The Digital medicine Outcomes Value Set (DOVeS) ontology aims to provide users with a set of ontologically structured healthcare outcomes (clinical, operational, economic, technical, and others) tailored to digital medicine and digital therapeutic applications. Digital medicine Outcomes Value Set (DOVeS) Ontology editor preferred label editor preferred label editor preferred term editor preferred term editor preferred term~editor preferred label The concise, meaningful, and human-friendly name for a class or property preferred by the ontology developers. (US-English) PERSON:Daniel Schober GROUP:OBI:<http://purl.obolibrary.org/obo/obi> editor preferred label editor preferred label editor preferred term editor preferred term editor preferred term~editor preferred label example A phrase describing how a term should be used and/or a citation to a work which uses it. May also include other kinds of examples that facilitate immediate understanding, such as widely know prototypes or instances of a class, or cases where a relation is said to hold. PERSON:Daniel Schober GROUP:OBI:<http://purl.obolibrary.org/obo/obi> example of usage example of usage has curation status PERSON:Alan Ruttenberg PERSON:Bill Bug PERSON:Melanie Courtot OBI_0000281 has curation status has curation status definition definition textual definition The official OBI definition, explaining the meaning of a class or property. Shall be Aristotelian, formalized and normalized. Can be augmented with colloquial definitions. The official definition, explaining the meaning of a class or property. Shall be Aristotelian, formalized and normalized. Can be augmented with colloquial definitions. 2012-04-05: Barry Smith The official OBI definition, explaining the meaning of a class or property: 'Shall be Aristotelian, formalized and normalized. Can be augmented with colloquial definitions' is terrible. Can you fix to something like: A statement of necessary and sufficient conditions explaining the meaning of an expression referring to a class or property. Alan Ruttenberg Your proposed definition is a reasonable candidate, except that it is very common that necessary and sufficient conditions are not given. Mostly they are necessary, occasionally they are necessary and sufficient or just sufficient. Often they use terms that are not themselves defined and so they effectively can't be evaluated by those criteria. On the specifics of the proposed definition: We don't have definitions of 'meaning' or 'expression' or 'property'. For 'reference' in the intended sense I think we use the term 'denotation'. For 'expression', I think we you mean symbol, or identifier. For 'meaning' it differs for class and property. For class we want documentation that let's the intended reader determine whether an entity is instance of the class, or not. For property we want documentation that let's the intended reader determine, given a pair of potential relata, whether the assertion that the relation holds is true. The 'intended reader' part suggests that we also specify who, we expect, would be able to understand the definition, and also generalizes over human and computer reader to include textual and logical definition. Personally, I am more comfortable weakening definition to documentation, with instructions as to what is desirable. We also have the outstanding issue of how to aim different definitions to different audiences. A clinical audience reading chebi wants a different sort of definition documentation/definition from a chemistry trained audience, and similarly there is a need for a definition that is adequate for an ontologist to work with. PERSON:Daniel Schober GROUP:OBI:<http://purl.obolibrary.org/obo/obi> definition definition textual definition editor note An administrative note intended for its editor. It may not be included in the publication version of the ontology, so it should contain nothing necessary for end users to understand the ontology. PERSON:Daniel Schober GROUP:OBI:<http://purl.obfoundry.org/obo/obi> IAO:0000116 uberon editor_note 1 editor_note editor note editor note term editor Name of editor entering the term in the file. The term editor is a point of contact for information regarding the term. The term editor may be, but is not always, the author of the definition, which may have been worked upon by several people 20110707, MC: label update to term editor and definition modified accordingly. See http://code.google.com/p/information-artifact-ontology/issues/detail?id=115. 20110707, MC: label update to term editor and definition modified accordingly. See https://github.com/information-artifact-ontology/IAO/issues/115. PERSON:Daniel Schober GROUP:OBI:<http://purl.obolibrary.org/obo/obi> definition editor term editor term editor alternative term An alternative name for a class or property which means the same thing as the preferred name (semantically equivalent) PERSON:Daniel Schober GROUP:OBI:<http://purl.obolibrary.org/obo/obi> alternative term alternative term definition source formal citation, e.g. identifier in external database to indicate / attribute source(s) for the definition. Free text indicate / attribute source(s) for the definition. EXAMPLE: Author Name, URI, MeSH Term C04, PUBMED ID, Wiki uri on 31.01.2007 PERSON:Daniel Schober Discussion on obo-discuss mailing-list, see http://bit.ly/hgm99w GROUP:OBI:<http://purl.obolibrary.org/obo/obi> definition source definition source curator note An administrative note of use for a curator but of no use for a user PERSON:Alan Ruttenberg IAO:0000232 uberon curator_notes 1 curator_notes curator note curator note curator notes elucidation person:Alan Ruttenberg Person:Barry Smith Primitive terms in a highest-level ontology such as BFO are terms which are so basic to our understanding of reality that there is no way of defining them in a non-circular fashion. For these, therefore, we can provide only elucidations, supplemented by examples and by axioms elucidation elucidation YH, JX a chinese translation represents a chinese translation of the existing term. Chinese translation The AE 'cough AE' has the 'label of AE outcome' of 'cough'; 'infection AE' has the 'label of AE outcom' of 'infection'. an annotation property that represents the label of an adverse event Yongqun Oliver He, Jiangan Hardy Xie label of adverse event outcome adverse event outcome has_MedDRA_id true true never_in_taxon never in taxon abbreviation ambiguous A synonym that is historic and discouraged dubious synonym Synonym to be removed from public release but maintained in edit version as record of external usage A synonym that is recorded for consistency with another source but is a misspelling A synonym that is used for non-human animal variants of a disease initial subset used by clingen disease_grouping classes where the corresponding DO term is both AR and AD https://github.com/monarch-initiative/monarch-disease-ontology/issues/406 GARD rare disease subset harrisons_view classes representing a historic epidemic in ORDO this is classified as genetic even though the class is used for non-genetic disorders this class merges distinct concepts in other resources A grouping of disease classes. Should be excluded from analysis condition has no severe phenotypes and is harmless or mostly harmless N of one classes that do not represent diseases obsoletion candidate biological anomaly particular clinical situation in a disease or syndrome clinical subtype clinical syndrome disease disorder etiological subtype group of disorders histopathological subtype classes where the corresponding ordo term is both AR and AD https://github.com/monarch-initiative/monarch-disease-ontology/issues/406 malformation syndrome morphological anomaly subtype of a disorder A bin for classes that are likely not diseases and may be moved to a separate hierarchy Diseases that are pre-dispositions to other diseases Conforms to the prototype design pattern where the classic/type1 form may be confused with the grouping type. See https://github.com/monarch-initiative/monarch-disease-ontology/issues/149 rare A hypothesized disease whose existence is speculative source subset_property synonym_type_property consider has_broad_synonym database_cross_reference has_exact_synonym has_narrow_synonym has_obo_namespace has_related_synonym shorthand label label label true true seeAlso seeAlso needsDefinition https://orcid.org/0000-0001-5208-3432 disease has primary infectious agent https://orcid.org/0000-0001-5208-3432 disease caused by reactivation of latent infectious agent http://orcid.org/0000-0002-4142-7153 Do not use this propety - this is just experimental. It will be moved to RO as soon as it is stable. cross-species analog disease_has_basis_in_disruption_of Editor note: TODO property chain: disease_has_location <- dhbido o occurs_in disease caused by disruption of disease_disrupts disease disrupts disease_has_infectious_agent disease has infectious agent has_user has_modified_accuracy has_associated_adverse_event has evidencetype has role has age group has specialty has_condition The condition that is associated with, or targeted, by a Digital Healthcare Application has technology has beneficiary has condition has accuracy has associated event has sex has outcome IAO:0000594 software application MONDO:0000001 A disease is a disposition to undergo pathological processes that exists in an organism because of one or more disorders in that organism. condition disease disease or disorder disease or disorder, non-neoplastic diseases diseases and disorders disorder disorders medical condition other disease disease MONDO:0000004 An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex (Addison's disease or primary adrenal insufficiency) or to inadequate secretion of ACTH by the pituitary gland (secondary adrenal insufficiency). adrenal cortical hypofunction adrenal cortical insufficiency adrenal gland insufficiency adrenal insufficiency adrenocortical insufficiency corticoadrenal insufficiency hypocortisolemia hypocortisolism hypoadrenalism adrenocortical insufficiency MONDO:0000005 alopecia, isolated MONDO:0000009 blood platelet disease platelet disorder bleeding disorder, platelet-type thrombocytopathy inherited bleeding disorder, platelet-type MONDO:0000014 colorblindness, partial MONDO:0000015 A genetic deficiency of any early component of the classical pathway (C1q, C1r/s, C2, C4, and C3) that is associated with autoimmune diseases due to the failure of clearance of immune complexes (IC) and apoptotic materials, and the impairment of normal humoral response. genetic deficiency of early component of the classical complement pathway classic complement early component deficiency https://rarediseases.info.nih.gov/diseases/9526/complement-component-deficiency MONDO:0000022 Urination during sleep. bedwetting enuresis, nocturnal sleep enuresis See genetic heterogeneity of OMIM 600631. nocturnal enuresis MONDO:0000023 fever-associated acute infantile liver failure syndrome infantile liver failure syndrome liver failure, infantile OMIM series 615438. Plus one non-syndrome. OMIM series covers only syndromes but I left off "syndrome" from the series name (smb). infantile liver failure MONDO:0000030 https://github.com/monarch-initiative/mondo/issues/3891 epilepsy, nocturnal frontal lobe sleep-related hypermotor epilepsy sleep-related hypermotor epilepsy MONDO:0000032 seizures, familial febrile febrile seizures, familial MONDO:0000044 Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium. hereditary hypophosphatemic rickets hereditary hypophosphatemic rickets https://rarediseases.info.nih.gov/diseases/6735/hypophosphatemic-rickets MONDO:0000045 https://github.com/monarch-initiative/mondo/issues/4069 hypothyroidism, congenital, nongoitrous MONDO:0000050 ICGHD IGHD congenital IGHD congenital isolated GH deficiency congenital isolated growth hormone deficiency familial isolated growth hormone deficiency isolated growth hormone deficiency non-acquired isolated growth hormone deficiency isolated congenital growth hormone deficiency MONDO:0000060 microcephalic osteodysplastic primordial dwarfism MONDO:0000062 A microphthalmia that is not part of a larger syndrome. microphthalmia, isolated nonsyndromic microphthalmia isolated microphthalmia MONDO:0000065 microvascular complications of diabetes Editor note: relationship to diabetic angiopathy microvascular complications of diabetes, susceptibility MONDO:0000066 mitochondrial complex deficiency MONDO:0000070 mycobacterium tuberculosis, susceptibility MONDO:0000075 See genetic heterogeneity of OMIM 182960. neuronopathy, distal hereditary motor MONDO:0000078 A common presentation of craniosynostosis and polysyndactyly. ACPS acrocephalopolysyndactyly MONDO:0000079 nephrolithiasis/osteoporosis, hypophosphatemic MONDO:0000082 Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines. Symptoms often include vaginal discomfort, dyspareunia; urinary stress incontinence; and fecal incontinence. Text of OMIM 613088 points to OMIM 176780 for disease description. pelvic organ prolapse MONDO:0000087 A developmental brain abnormality characterized by an excessive amount of small convolutions on the surface of the brain and cognitive dysfunction. polymicrogyria MONDO:0000088 Unusually early sexual maturity. pubertas praecox sexual precocity familial precocious puberty idiopathic sexual precocity precocious puberty https://rarediseases.info.nih.gov/diseases/7446/precocious-puberty MONDO:0000090 progressive external ophthalmoplegia with mtDNA deletions progressive external ophthalmoplegia with mitochondrial DNA deletions MONDO:0000093 Schistosoma mansoni infection, susceptibility MONDO:0000104 anemia, hypochromic microcytic, with iron overload anemia, hypochromic microcytic with iron overload MONDO:0000105 anemia, nonspherocytic hemolytic MONDO:0000107 Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress. auriculo-condylar syndrome question mark ear syndrome dysgnathia complex ears prominent and constricted question mark ear question-mark ear syndrome auriculocondylar syndrome MONDO:0000108 bacteremia, susceptibility MONDO:0000110 Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated. bifid nose MONDO:0000111 Text for OMIM 211910 includes 211920 and 611929 as other types. camptodactyly syndrome, Guadalajara MONDO:0000114 cerebelloparenchymal disorder MONDO:0000115 A rare genetic brain malformation characterized by displacement of the brain stem and cerebellum through the foramen magnum. It may result in hydrocephalus. (Arnold) Chiari malformation Arnold-Chiari malformation Chiari malformation Nomenclature of OMIM 118420 includes 207950 as another type. Chiari malformation MONDO:0000118 reticulate pigment disorders reticulate pigment disorder MONDO:0000119 CHTD Genetic heterogeneity of OMIM 306955 which includes CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED lists 614980, 614954 and 615779 as forms of this disease. congenital heart defects, multiple types MONDO:0000127 Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy''). https://github.com/monarch-initiative/mondo/issues/4666 geleophysic dwarfism geleophysic dwarfism syndrome geleophysic dysplasia MONDO:0000128 A rare inherited disorder affecting the neurofilaments. It is caused by mutations in the GAN gene. It is characterized by the presence of abnormally large nerve cell axons. Signs and symptoms include difficulty walking, sensory disturbances, lack of motor coordination and abnormal reflexes in the limbs. https://github.com/monarch-initiative/mondo/issues/2532 See genetic heterogeneity of OMIM 256850. giant axonal neuropathy MONDO:0000129 glutaric aciduria (disease) glutaric acidemia glutaric aciduria glutaric aciduria (disease) Editor note: check relationship to multiple acyl-CoA dehydrogenase deficiency glutaric aciduria MONDO:0000133 The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9. immunodeficiency-centromeric instability-facial anomalies immunodeficiency-centromeric instability-facial anomalies syndrome CIID ICF syndrome immunodeficiency-centromeric instability-facial anomalies syndrome MONDO:0000136 Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma. https://github.com/monarch-initiative/mondo/issues/4985 keratosis pilaris decalvans keratosis follicularis spinulosa decalvans MONDO:0000137 leukoencephalopathy, megalencephalic MONDO:0000138 metaphyseal chondrodysplasia (disease) metaphyseal chondrodysplasia metaphyseal chondrodysplasia (disease) metaphyseal chondrodysplasia MONDO:0000141 Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition. MVA1 Mosaic variegated aneuploidy syndrome 1 Warburton-Anyane-Yeboa syndrome mosaic variegated aneuploidy syndrome MONDO:0000144 See genetic heterogeneity of OMIM 614389. RPRGL4 exists only as and INCLUDED entity of OMIM 604759. pregnancy loss, recurrent, susceptibility MONDO:0000147 multiple polyps polyposis polyposis MONDO:0000148 See genetic heterogeneity of OMIM 614742. pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000151 symphalangism MONDO:0000152 thiamine-responsive dysfunction syndrome thiamine-responsive dysfunction syndrome MONDO:0000153 A congenital cardiac defect in which two heart vessels are reversed (transposed). TGA TGV complete transposition great vessels transposition transposition of great vessels transposition of the great vessels transposition of the great arteries MONDO:0000155 An inherited metabolic disease that is has its basis in the disruption of sequestering of triglyceride. inborn error of sequestering of triglyceride inborn sequestering of triglyceride disorder rare inborn error of sequestering of triglyceride See text of OMIM 190430. triglyceride storage disease MONDO:0000156 trigonocephaly trigonocephalia trigonocephalus trigonocephaly, isolated trigonocephaly MONDO:0000158 A spectrum of hip abnormalities commonly presenting in infancy involving the relationship between the femoral head and the acetabulum and that includes subluxation or dislocation at rest or upon provocation. congenital hip dysplasia congenital acetabular dysplasia congenital dysplasia of the hip dysplasia of acetabulum developmental dysplasia of the hip MONDO:0000159 Genetic heterogeneity of OMIM 614675 includes 615715. bone marrow failure syndrome MONDO:0000160 epilepsy, familial adult myoclonic MONDO:0000162 autoimmune thyroid disease, susceptibility to MONDO:0000166 encephalopathy, acute, infection-induced MONDO:0000167 A grouping for Huntington disease and similar diseases. Huntington disease and related disorders MONDO:0000169 microphthalmia, isolated, with cataract MONDO:0000170 A developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. MAC colobomatous microphthalmia microphthalmia with colobomatous cyst microphthalmia-anophthalmia-coloboma syndrome MCOPCB1 microphthalmia associated with colobomatous cyst microphthalmos bilateral, colobomatous orbital cyst microphthalmia, isolated, with coloboma https://rarediseases.info.nih.gov/diseases/3644/microphthalmia-associated-with-colobomatous-cyst MONDO:0000171 WWS Walker-Warburg muscular dystrophy Walker-Warburg syndrome cerebroocular dysplasia-muscular dystrophy syndrome hard syndrome hydrocephalus-agyria-retinal dysplasia syndrome Chemke syndrome Pagon syndrome Warburg syndrome cerebroocular dysgenesis cerebroocular dysplasia muscular dystrophy syndrome hard +/- E syndrome hydrocephalus, agyria and retinal dysplasia muscular dystrophy-dystroglycanopathy, type A MONDO:0000172 muscular dystrophy-dystroglycanopathy, type B MONDO:0000173 muscular dystrophy-dystroglycanopathy, type C MONDO:0000179 Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism. nuclear localization signal NLS Neu Laxova syndrome Neu-Laxova syndrome MONDO:0000181 Note that OMIM has two PS that appear to refer to the same thing microcephaly and chorioretinopathy MONDO:0000182 A congenital myasthenic syndrome with a finding of tubular aggregates in myofibers. https://github.com/monarch-initiative/mondo/issues/4069 CMS-TA myasthenic syndrome, congenital, with tubular aggregates congenital myasthenic syndrome with tubular aggregates MONDO:0000188 An epileptic encephalopathy resulting from impaired glucose transport into the brain. GLUT1 deficiency syndrome GLUT1DS Editor note: note that in contrast to other phenotypic series, all members are caused by the same gene, SLC2A1 GLUT1 deficiency syndrome MONDO:0000190 A disorder characterized by an electrocardiographic finding of a rapid grossly irregular ventricular rhythm with marked variability in QRS cycle length, morphology, and amplitude. The rate is typically greater than 300 bpm. (CDISC) ventricular fibrillation (disease) VF VFib fibrillation, ventricular ventricular fibrillation ventricular fibrillation (disease) ventricular fibrillation MONDO:0000192 polyglucosan body myopathy MONDO:0000193 A disorder in which there is a failure to regenerate the active glucocorticoid cortisol from cortisone via 11beta-HSD1. The resulting lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in childhood with precocious pseudopuberty and females presenting in adolescence and early adulthood with hirsutism, oligoamenorrhea, and infertility. 11-beta-hydroxysteroid dehydrogenase deficiency type 1 CORTRD deficiency of (R)-20-hydroxysteroid dehydrogenase deficiency of cortisone reductase hyperandrogenism due to cortisone reductase deficiency HSD 11B1 deficiency 11-alpha beta-hydroxysteroid dehydrogenase type I deficiency of cortisone reductase deficiency https://rarediseases.info.nih.gov/diseases/9882/cortisone-reductase-deficiency MONDO:0000200 Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet. Laband syndrome Zimmermann-Laband syndrome type 1 gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome Laband-Zimmermann syndrome ZLS ZLS1 Zimmerman Laband syndrome Zimmermann-Laband syndrome 1 fibromatosis gingival, hepatosplenomegaly other anomalies gingival fibromatosis, abnormal fingers, fingernails, nose and ears, and splenomegaly Zimmermann-Laband syndrome MONDO:0000208 MSSGM1 microcephaly, short stature, and impaired glucose metabolism 1 MSSGM microcephaly, short stature, and impaired glucose metabolism microcephaly, short stature, and impaired glucose metabolism 1 MONDO:0000209 SMABF spinal muscular atrophy with congenital bone fractures prenatal-onset spinal muscular atrophy with congenital bone fractures MONDO:0000210 thiopurine metabolic disease MONDO:0000211 An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity. ADSD autosomal dominant striatal neurodegeneration See genetic heterogeneity of OMIM 609161 smb. striatal degeneration, autosomal dominant MONDO:0000212 A hypercalcemia disease that occurs between 28 days to one year of life.. https://github.com/monarch-initiative/mondo/issues/2926 autosomal recessive hypercalcemia, infantile autosomal recessive infantile hypercalcemia familial infantile hypercalcemia with suppressed intact parathyroid hormone hypercalcemia disease of infancy hypercalcemia, idiopathic, of infancy hypercalcemia, infantile hypercalcemia, infantile, autosomal recessive idiopathic infantile hypercalcemia infantile hypercalcemia infantile hypercalcemia disease infantile onset hypercalcemia disease hypercalcemia, infantile MONDO:0000213 autoimmune disease, multisystem, infantile-onset MONDO:0000214 hypermanganesemia with dystonia MONDO:0000222 Acute form of gonococcal seminal vesiculitis. acute gonococcal seminal vesiculitis gonococcal seminal vesiculitis, acute seminal vesicle acute gonorrhea MONDO:0000224 An acquired metabolic disease that is has its basis in the disruption of carbohydrate metabolism. carbohydrate metabolism disease acquired carbohydrate metabolism disease MONDO:0000225 A form of ehrlichiosis associated with Ehrlichia chaffeensis, an obligate intracellular pathogen affecting monocytes and macrophages. human ehrlichiosis due to Ehrlichia chaffeensis HME Human ehrlichial infection, human monocytic type ehrlichiosis chafeensis human ehrlichiosis caused by Ehrlichia chaffeensis human monocytic ehrlichiosis https://rarediseases.info.nih.gov/diseases/72/human-monocytic-ehrlichiosis MONDO:0000226 disease of mineral metabolism disorder of mineral metabolism mineral metabolism disease MONDO:0000227 Rickettsia africae spotted fever South African tick-bite fever African tick-bite fever MONDO:0000229 An infectious disease caused by infection with rickettsia conorii subsp. coronorii. Indian tick typhus MONDO:0000230 An infectious disease caused by infection with rickettsia conorii subsp. israelensis. Israeli spotted fever Israeli tick typhus MONDO:0000231 Rickettsia heilongjiangensis spotted fever Far eastern spotted fever MONDO:0000232 A spotted fever that has material basis in Rickettsia honei, which is transmitted by cayenne ticks (Amblyomma cajennense). The infection has symptom mild spotted fever, has symptom eschar and has symptom adenopathy. Thai tick typhus FISF Flinders island spotted fever MONDO:0000233 A spotted fever that has material basis in Rickettsia japonica, which is transmitted by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has symptom fever, has symptom eschars, has symptom regional adenopathy, and has symptom rash on extremities. Japanese spotted fever Rickettsia japonica spotted fever Japanese spotted fevers fever, Japanese spotted fevers, Japanese spotted oriental spotted fever spotted fever, Japanese Japanese spotted fever MONDO:0000234 A spotted fever that has material basis in Rickettsia parkeri, which is transmitted by Gulf Coast tick (Amblyomma maculatum). The infection has symptom fever, has symptom headache, has symptom eschar, and has symptom rash. maculatum infection Rickettsia parkeri spotted fever MONDO:0000236 A anthrax infection that involves the oropharynx. oropharynx anthrax infection oropharyngeal anthrax MONDO:0000239 Adiaspiromycosis is a rare fungal infection in the lung and is caused by inhalation of spores of the saprophytic soil fungus Chrysosporium parvum var crescens (previously known as Emmonsia crescens). adiaspiromycosis adiaspirosis haplosporangiosis pulmonary adiaspiromycosis adiaspiromycosis MONDO:0000240 An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage. invasive aspergillosis MONDO:0000241 A congestive cardiomyopathy caused by a combination of dietary deficiency of selenium and the presence of a mutated strain of Coxsackievirus. https://github.com/monarch-initiative/mondo/issues/3205 congestive cardiomyopathy due to selenium deficiency enlarged heart and poor heart function The etiological mechanism of KD remains largely unclear, selenium and Coxsackie virus infection have been suggested to be highly involved in the pathogenesis of KD [PMID:33634251]. Keshan disease https://rarediseases.info.nih.gov/diseases/8761/keshan-disease MONDO:0000242 A dermatophytosis that involves the beard. beard dermatophytosis dermatophytosis of beard tinea barbae MONDO:0000243 A dermatophyte infection of the hair that infects the hair surface. ectothrix infectious disease MONDO:0000244 A dermatophyte infection of the hair that nvade the hair shaft and internalize into the hair cell. endothrix infectious disease MONDO:0000245 A tinea corporis that results in fungal infection located in skin, has material basis in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition. tinea imbricata MONDO:0000248 A dengue disease that involves the most severe form of dengue fever, has material basis in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted by Aedes mosquito bite. The infection has symptom easy bruising, has symptom blood spots, has symptom bleeding gums, and has symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth. DSS dengue shock syndrome MONDO:0000249 Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption. secretory diarrhea MONDO:0000250 A diarrhea that results from the presence of osmotically active, poorly absorbed solutes in the bowel lumen that inhibit normal water and electrolyte absorption. osmotic diarrhea permeability diarrhea osmotic diarrheal disease MONDO:0000251 A diarrhea that results from either increased or decreased motility in the bowel. diarrhea secondary to altered bowel motility motility-related diarrhea diarrheal disease secondary to altered bowel motility MONDO:0000252 An diarrhea (disease) involving a pathogenic inflammatory response in the intestinal mucosa. inflammatory diarrhea MONDO:0000253 Either of two diseases resulting from fungal infection of the hair shafts. Black piedra occurs mainly in and on the hairs of the scalp and is caused by Piedraia hortae; white piedra occurs in and on the hairs of the scalp, beard, moustache and genital areas and is caused by Trichosporon species. hair shaft fungal infectious disease Piedras, White Piedras, black White Piedras White piedra black Piedras black piedra piedra, White piedra, black steroid-modified tinea infection Piedras piedra MONDO:0000254 A mycosis that involves the integument and its appendages, including hair and nails. Infection may involve the stratum corneum or deeper layers of the epidermis. cutaneous mycosis MONDO:0000255 A mycosis that involves subcutaneous tissue. There are three general types of subcutaneous mycoses: chromoblastomycosis, mycetoma, and sporotrichosis. subcutaneous mycosis subcutaneous mycosis MONDO:0000256 A mycosis that involves the lungs, abdominal viscera, bones and or central nervous system. systemic fungal infection systemic mycosis MONDO:0000257 Acute form of diarrhea. acute diarrheal disease diarrhea (disease), acute diarrhea, acute diarrheal disease, acute acute diarrhea MONDO:0000259 asymptomatic dengue MONDO:0000261 An inflammatory disease involving a pathogenic inflammatory response in the pharyngeal tonsil. inflammation of pharyngeal tonsil pharyngeal tonsil inflammation pharyngeal tonsilitis chronic adenoiditis adenoiditis MONDO:0000262 Fungus infection of the external ear, usually by aspergillus species external ear fungal infectious disease Singapore ear otitis mycotic externa otomycosis MONDO:0000263 An inflammation of both larynx and trachea. laryngotracheitis MONDO:0000265 A type of lung inflammation resulting from the aspiration of food, liquid, or gastric contents into the upper respiratory tract. aspiration pneumonia (disease) Mendelson syndrome Mendelson's syndrome Mendelsons syndrome Pneumonias, aspiration acid aspiration syndrome acid aspiration syndromes aspiration Pneumonias aspiration pneumonia aspiration pneumonia (disease) gastric acid aspiration syndrome syndrome, Mendelson syndrome, Mendelson's syndrome, acid aspiration syndromes, acid aspiration inhalation pneumonia aspiration pneumonia MONDO:0000266 A aspergillosis that involves the lung. lung aspergillosis pulmonary aspergilloma MONDO:0000270 A disease involving the lower respiratory tract. disease of lower respiratory tract disease or disorder of lower respiratory tract disorder of lower respiratory tract lower respiratory tract disease lower respiratory tract disease or disorder lower respiratory tract disorder MONDO:0000271 An urogenital tuberculosis involving a pathogenic inflammatory response in the fallopian tube. fallopian tube tuberculosis tuberculous salpingitis MONDO:0000273 A West Nile encephalitis that results in infection located in brain, has material basis in Kunjin virus, a subtype of West Nile Virus, which is transmitted by Culex annulirostris mosquito bite. The infection has symptom fever, has symptom rigor, has symptom headache, has symptom confusion, and has symptom lethargy. Kunjin encephalitis Kunjin virus infectous disease MONDO:0000276 A disease caused by infection with Powassan virus. Powassan virus caused disease or disorder Powassan virus disease or disorder Powassan virus infectious disease powassan encephalitis virus infection encephalitis, powassan Powassan encephalitis MONDO:0000282 A viral infectious disease that is a hemorrhagic fever, has material basis in Whitewater Arroyo virus, which is transmitted by white-throated woodrats (Neotoma albigula). The infection has symptom fever, has symptom headache, has symptom myalgia, and has symptom hemorrhagic manifestations. Whitewater Arroyo hemorrhagic fever MONDO:0000283 Korean hemorrhagic fever Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type MONDO:0000284 nephropathis epidemica nephropathia epidemica Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type MONDO:0000286 A viral hepatitis that results in inflammation, located in liver, has material basis in Human herpesvirus 4 and has symptom headache, has symptom fatigue, has symptom fever, has symptom abdominal pain, has symptom nausea, and has symptom jaundice. Epstein-Barr virus hepatitis MONDO:0000288 human polycystic hydatid disease neotropical echinococcosis polycystic echinococcosis MONDO:0000290 A infectious disease involving the Naegleria fowleri. Naegleria fowleri infection infections, Naegleria fowleri primary amebic meningoencephalitis MONDO:0000291 Granulomatous amebic encephalitis is a life-threatening infection of the brain caused by the free-living amoebae Acanthamoeba spp., Balamuthia mandrillaris and Sappinia pedata. Acanthamoeba species, are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units. The disease affects immunocompromised peple and is very serious. Symptoms include mental status changes, loss of coordination, fever, muscular weakness or partial paralysis affecting one side of the body, double vision, sensitivity to light and other neurologic problems. The diagnosis is difficult and is often made at advanced stages. Tests useful in the diagnosis include brain scans, biopsies, or spinal taps and in disseminated disease, biopsy of the involved sites and testing by the laboratory experts. Early diagnosis is important for the prognosis. No single drug is effective; hence multiple antibiotics are needed for successful treatment. A combination of surgical and medical interventions involving multiple specialty experts is required to prevent death and morbidity in survivors. granulomatous amoebic encephalitis Acanthamoeba encephalitis Acanthamoeba granulomatous encephalitis granulomatous amebic encephalitis due to Acanthamoeba granulomatous amebic encephalitis https://rarediseases.info.nih.gov/diseases/12651/granulomatous-amebic-encephalitis MONDO:0000292 A disease caused by infection with Philophthalmus. Philophthalmus caused disease or disorder Philophthalmus disease or disorder Philophthalmus infectious disease philophthalmiasis MONDO:0000293 A parasitic infection that develops in the intermediate hosts of some tapeworm species (Taenia multiceps, T. serialis, T. brauni, or T. glomerata) and are caused by the coenurus, the larval stage of these worms. This disease occurs mainly in sheep and other ungulates, but occasionally can occur in humans too by accidental ingestion of worms' eggs. caenurosis coenuriasis coenurosis infection by larvae of multiceps infection by tapeworm larva sturdy coenurosis MONDO:0000294 An disease or disorder caused by infection with Mesocestoides. Mesocestoides caused disease or disorder Mesocestoides disease or disorder Mesocestoides infectious disease infection by Mesocestoides infection caused by Mesocestoides mesocestoidiasis MONDO:0000295 An disease or disorder caused by infection with Acanthocephala. Acanthocephala caused disease or disorder Acanthocephala disease or disorder Acanthocephala infectious disease disease caused by Acanthocephala disease due to Acanthocephala infection by Acanthocephala infection by thorny-headed worm acanthocephaliasis MONDO:0000297 An infection that is caused by the raccoon nematode Baylisascaris procyonis, which is transmitted by the ingestion of embryonated eggs in contaminated soil; symptoms depend on larval migration sites (visceral organs, eye, or brain) provoking severe inflammatory responses. Baylisascaris procyonis caused disease or disorder Baylisascaris procyonis disease or disorder Baylisascaris procyonis infectious disease raccoon roundworm infection baylisascariasis MONDO:0000298 A disease caused by infection with Dioctophyme renale. Dioctophyme renale caused disease or disorder Dioctophyme renale disease or disorder Dioctophyme renale infection Dioctophyme renale infectious disease dioctophyma renale infection dioctophymosis giant kidney worm disease dioctophymiasis MONDO:0000299 A disease caused by infection with Thelazia. Thelazia caused disease or disorder Thelazia disease or disorder Thelazia infectious disease infection by Thelazia thelaziasis conjunctival spirurosis infection caused by Thelazia thelaziosis verminous ophthalmia thelaziasis MONDO:0000301 An myiasis caused by infection with Oestrus ovis. Oestrus ovis caused myiasis Oestrus ovis myiasis ophthalmic myiasis ophthalmomyiasis ophthalmomyiasis MONDO:0000302 A disease caused by infection with Basidiobolus. Basidiobolus caused disease or disorder Basidiobolus disease or disorder Basidiobolus infectious disease basidiobolomycosis infection by Basidiobolus infection caused by Basidiobolus basidiobolomycosis MONDO:0000303 Conidiobolus infectious disease infection by Conidiobolus rhinoentomophthoromycosis conidiobolomycosis MONDO:0000304 A disease caused by infection with Talaromyces marneffei. Penicillium marneffei infectious disease Talaromyces marneffei caused disease or disorder Talaromyces marneffei disease or disorder Talaromyces marneffei infectious disease infection caused by Penicillium marneffei infection caused by Talaromyces marneffei infection due to Penicillium marneffei penicilliosis MONDO:0000306 Fungal infections caused by trichosporon that may become systemic especially in an immunocompromised host. Clinical manifestations range from superficial cutaneous infections to systemic lesions in multiple organs. Trichosporon caused disease or disorder Trichosporon disease or disorder Trichosporon infectious disease trichosporonosis MONDO:0000307 A disease caused by infection with Ichthyosporea. Ichthyosporea caused disease or disorder Ichthyosporea disease or disorder Ichthyosporea infectious disease parasitic Ichthyosporea infectious disease MONDO:0000308 A systemic mycosis that arises from infection in an immunologically normal host. primary systemic mycosis MONDO:0000309 A condition in which the ocular image of an object as seen by one eye differs in size and shape from that seen by the other. aniseikonia MONDO:0000310 A disease caused by infection with Alkhumra hemorrhagic fever virus. Alkhumra hemorrhagic fever virus caused disease or disorder Alkhumra hemorrhagic fever virus disease or disorder Alkhumra hemorrhagic fever virus infectious disease Alkhurma hemorrhagic fever MONDO:0000313 Lower than normal levels of phosphates in the circulating blood. hypophosphatemia (disease) hypophosphatemia hypophosphatemia (disease) hypophosphatemia MONDO:0000314 primary bacterial infectious disease MONDO:0000315 A bacterial infectious disease that results in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder. opportunistic bacterial infectious disease commensal bacterial infectious disease MONDO:0000316 opportunistic bacterial infectious disease MONDO:0000320 A tularemia that involves the lymph node. lymph node tularemia glandular tularemia MONDO:0000321 A tularemia that results in bacteremia and has symptom fever, has symptom chills, has symptom myalgia, has symptom malaise, and has symptom weight loss. typhoidal tularemia MONDO:0000327 A cutaneous infection caused by Mycobacterium ulcerans. It presents with painless nodular swelling of the skin, leading to the formation of necrotizing ulcers. Bairnsdale ulcer Buruli ulcer Daintree ulcer Mossman ulcer Mycobacterium ulcerans caused disease or disorder Mycobacterium ulcerans disease or disorder Mycobacterium ulcerans infectious disease Searl ulcer Searle's ulcer Buruli ulcer disease MONDO:0000328 Abnormally high level of phosphate in the blood. hyperphosphatemia (disease) hyperphosphatemia hyperphosphatemia (disease) hyperphosphatemia MONDO:0000330 A bacterial infection caused by Rickettsia typhi. Rickettsia felis spotted fever cat flea rickettsiosis endemic flea-borne typhus endemic typhus fever fleaborne typhus murine typhus rat-flea typhus toulon typhus urban typhus urban typhus of Malaya shop typhus endemic typhus MONDO:0000331 A disease caused by infection with Rickettsia helvetica. Rickettsia helvetica aneruptive fever Rickettsia helvetica caused disease or disorder Rickettsia helvetica disease or disorder Rickettsia helvetica infectious disease aneruptive fever Rickettsia helvetica spotted fever MONDO:0000332 An ehlrichiosis caused by Neorickettsia sennetsu. Neorickettsia sennetsu caused disease or disorder Neorickettsia sennetsu disease or disorder Neorickettsia sennetsu infectious disease sennetsu ehrlichiosis sennetsu fever Human Ehrlichial infection, sennetsu type sennetsu fever https://rarediseases.info.nih.gov/diseases/120/sennetsu-fever MONDO:0000333 A congenital syphilis that is manifested between 0 and 2 years old. https://github.com/monarch-initiative/mondo/issues/4069 Early congenital syphilis (less than 2 years) early congenital syphilis MONDO:0000334 Nodular goiter characterized by more than one discrete tissue mass. goiter, multinodular multinodular goiter MONDO:0000335 A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has symptom irritability, has symptom difficulty concentrating, has symptom deterioration of memory, has symptom defective judgment, has symptom headaches, has symptom insomnia, has symptom fatigue, and has symptom lethargy. parenchymatous neurosyphilis MONDO:0000336 A tertiary neurosyphilis that results in inflammation located in arteries of the brain or located in arteries of spinal cord. The infection has symptom headache, has symptom neck stiffness, has symptom dizziness, has symptom behavioral abnormalities, has symptom poor concentration, has symptom memory loss, has symptom lassitude, has symptom insomnia, has symptom blurred vision, has symptom weakness and wasting of shoulder-girdle and arm muscles, has symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has symptom paralysis of the legs due to thrombosis of spinal arteries. meningovascular neurosyphilis MONDO:0000337 An infection that is due to human herpesvirus (HHV) types 6 or 7; it is characterized by 3-5 days of high fever followed by the acute onset of a rosy, pink, non-pruritic, macular rash that is predominantly on the neck and trunk. exanthem subitum roseola roseola Infantum sixth disease pseudorubella exanthema subitum MONDO:0000338 variola major variola major infectious disease MONDO:0000339 A paralytic poliomyelitis in which the site of paralysis is the spinal cord. spinal polio MONDO:0000340 A paralytic poliomyelitis in which the site of paralysis is the bulbospinal tract. Editor note: TODO align with anatomy bulbospinal polio MONDO:0000341 A poliomyelitis that results in destruction located in motor neurons of central nervous system, has material basis in Human poliovirus 1, has material basis in Human poliovirus 2, or has material basis in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom loss of reflexes, has symptom muscle spasms, and has symptom acute flaccid paralysis. paralytic poliomyelitis MONDO:0000342 An disease or disorder caused by infection with O'nyong-nyong virus. O'nyong-nyong virus caused disease or disorder O'nyong-nyong virus disease or disorder O'nyong-nyong virus infectious disease O'nyong'nyong fever MONDO:0000343 A disease caused by infection with Barmah Forest virus. Barmah Forest virus caused disease or disorder Barmah Forest virus disease or disorder Barmah Forest virus infectious disease Barmah forest virus disease MONDO:0000344 A disease caused by infection with Ross River virus. Ross River virus caused disease or disorder Ross River virus disease Ross River virus disease or disorder Ross River virus infectious disease Ross river fever MONDO:0000345 A disease caused by infection with Oropouche virus. Oropouche virus caused disease or disorder Oropouche virus disease or disorder Oropouche virus infectious disease Oropouche fever MONDO:0000346 Balkan hemorrhagic fever Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type MONDO:0000351 An inherited metabolic disease that is has its basis in the disruption of methionine catabolic process. hypermethioninemia inborn error of methionine catabolic process inborn methionine catabolic process disorder rare inborn error of methionine catabolic process disorder of methionine catabolism MONDO:0000355 Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence. UCMD Ullrich scleroatonic muscular dystrophy scleroatonic Ullrich disease scleroatonic muscular dystrophy Ullrich disease congenital muscular dystrophy, Ullrich type late onset scleroatonic familial myopathy (subtype) Ullrich congenital muscular dystrophy MONDO:0000358 Editor notes: most subtypes are isolated orofacial cleft MONDO:0000359 Spondylocostal dysplasia is a rare genetic disorder characterized by defects of the bones of the spine (vertebrae) and abnormalities of the ribs. Ribs can be fused or missing in chaotic patterns. These malformations are present at birth (congenital). costovertebral dysplasia spondylocostal dysostosis spondylocostal dysplasia Jarcho-Levin syndrome SCD SCDO Most times, spondylocostal dysplasia is inherited in an autosomal recessive manner and is caused by a change (mutation) in one of four genes, DLL3, MESP2, LFNG, HES7. Rarely, spondylocostal dysplasia can be inherited in an autosomal dominant manner. One gene, TBX6, is known to cause autosomal dominant spondylocostal dysplasia. There is significant confusion in the medical literature regarding names for spondylocostal dysplasia. For years, this disorder and a similar disorder, spondylothoracic dysplasia, were considered the same disorder and referred to as Jarcho-Levin syndrome. Researchers now know that these disorders are separate entities with different causes and associated malformations. spondylocostal dysostosis MONDO:0000363 A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ. gummatous syphilis MONDO:0000365 Primary congenital glaucoma (PCG) is characterized by elevated intraocular pressure (IOP), enlargement of the globe (buphthalmos), edema, and opacification of the cornea with rupture of Descemet's membrane (Haab's striae), thinning of the anterior sclera and iris atrophy, anomalously deep anterior chamber, and structurally normal posterior segment except for progressive glaucomatous optic atrophy. Symptoms include photophobia, blepharospasm, and excessive tearing. Typically, the diagnosis is made in the first year of life. Depending on when treatment is instituted, visual acuity may be reduced and/or visual fields may be restricted. In untreated individuals, blindness invariably occurs. primary congenital glaucoma (disease) primary congenital glaucoma primary congenital glaucoma (disease) primary congenital glaucoma MONDO:0000367 A parasitic infection caused by tapeworms of the genus Taenia. Humans are infected by eating undercooked or raw meat of infected animals. It is usually an asymptomatic infection and patients may become aware of the infection by noticing segments of the tapeworm in their feces. If symptoms are present, they include nausea, abdominal pain, indigestion, constipation, or diarrhea. Taenia infection taenia saginata infection Taenia saginata infectious disease beef tapeworm infection infection by Taeniarhynchus saginatus infection by taenia saginata infections, Taenia unarmed tapeworm infection taeniasis MONDO:0000368 A tuberculosis that occurs at body sites other than the lung. extrapulmonary tuberculosis MONDO:0000369 An extrapulmonary tuberculosis that is located in gastrointestinal tract, located in peritoneum, located in omentum, located in mesentery, located in liver, located in spleen or located in pancreas. tuberculosis of abdomen abdominal tuberculosis MONDO:0000371 A in situ carcinoma that involves the oral cavity. carcinoma in situ of mouth carcinoma in situ of oral cavity carcinoma in situ of the mouth carcinoma in situ of the oral cavity mouth carcinoma in situ oral cavity in situ carcinoma stage 0 carcinoma of mouth stage 0 carcinoma of oral cavity stage 0 carcinoma of the mouth stage 0 carcinoma of the oral cavity stage 0 mouth carcinoma stage 0 oral cavity cancer stage 0 oral cavity cancer aJCC v6 stage 0 oral cavity cancer aJCC v6 and v7 stage 0 oral cavity cancer aJCC v7 stage 0 oral cavity carcinoma oral cavity carcinoma in situ MONDO:0000372 Stage 0 carcinoma of the pharynx according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions. carcinoma in situ of pharynx carcinoma in situ of the pharynx pharyngeal cancer stage 0 pharyngeal carcinoma in situ pharynx carcinoma in situ pharynx in situ carcinoma stage 0 carcinoma of pharynx stage 0 carcinoma of the pharynx stage 0 pharyngeal cancer stage 0 pharyngeal carcinoma stage 0 pharyngeal throat cancer stage 0 pharynx carcinoma pharynx carcinoma in situ MONDO:0000373 A carcinoma in situ involving a gall bladder. carcinoma in situ of gall bladder gall bladder in situ carcinoma stage 0 gall bladder carcinoma gall bladder carcinoma in situ MONDO:0000374 A carcinoma in situ involving a bile duct. bile duct in situ carcinoma carcinoma in situ of bile duct stage 0 bile duct carcinoma bile duct carcinoma in situ MONDO:0000375 A carcinoma in situ involving a bronchus. bronchus in situ carcinoma carcinoma in situ of bronchus stage 0 bronchus carcinoma bronchus carcinoma in situ MONDO:0000376 A malignant neoplasm involving the respiratory system cancer of respiratory system malignant neoplasm of respiratory system malignant respiratory system neoplasm respiratory system cancer respiratory system cancer MONDO:0000377 A Leydig cell tumor characterized by large tumor size, the presence of cytologic atypia, increased mitotic activity, necrosis, and vascular invasion. Approximately 10% of the testicular Leydig cell tumors show malignant characteristics and metastasize. Leydig cell tumors of the ovary follow a benign clinical course. Leydig cell cancer Leydig cell tumor, malignant cancer of Leydig cell malignant Leydig cell neoplasm malignant interstitial cell neoplasm malignant neoplasm of Leydig cell malignant interstitial cell tumor malignant Leydig cell tumor MONDO:0000378 A Sertoli cell tumor of the testis or the ovary which metastasizes to another anatomic site. Sertoli cell tumor, malignant malignant Androblastoma malignant Sertoli cell tumor MONDO:0000379 A malignant form of Sertoli-leydig cell tumor. Sertoli-Leydig cell tumor, malignant malignant Sertoli-Leydig cell tumor MONDO:0000380 A malignant epithelial neoplasm arising in the paranasal sinus. malignant neoplasm of paranasal sinus malignant paranasal sinus neoplasm paranasal sinus cancer accessory sinus cancer accessory sinus carcinoma cancer of paranasal sinus carcinoma of accessory sinus carcinoma of paranasal sinus carcinoma of the accessory sinus carcinoma of the paranasal sinus paranasal sinus carcinoma adenoid cystic carcinoma of accessory sinus adenoid cystic carcinoma of paranasal sinus epidermoid carcinoma of the paranasal sinus mucoepidermoid carcinoma of accessory sinus paranasal sinus adenocarcinoma paranasal sinus adenoid cystic carcinoma paranasal sinus mucoepidermoid carcinoma paranasal sinus squamous cell carcinoma squamous cell carcinoma of paranasal sinus paranasal sinus carcinoma MONDO:0000381 A infiltrating urothelial carcinoma that involves the renal pelvis. infiltrating renal pelvis transitional cell carcinoma MONDO:0000382 A benign neoplasm that involves the respiratory system. respiratory system benign neoplasm respiratory system benign neoplasm MONDO:0000383 A non-metastasizing neoplasm that arises from the male or female reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, uterine corpus leiomyoma, and benign ovarian serous tumor. benign reproductive system neoplasm reproductive organ benign neoplasm benign reproductive system neoplasm MONDO:0000384 A benign abnormal growth of the cells that comprise the bladder. benign bladder neoplasm benign bladder tumor benign neoplasm of bladder benign neoplasm of the bladder benign neoplasm of the urinary bladder benign neoplasm of urinary bladder benign tumor of bladder benign tumor of the bladder benign tumor of the urinary bladder benign tumor of urinary bladder benign urinary bladder neoplasm benign urinary bladder tumor urinary bladder benign neoplasm bladder benign neoplasm MONDO:0000385 A non-metastasizing neoplasm arising from any part of the digestive system. alimentary part of gastrointestinal system benign neoplasm benign GI neoplasm benign GI system neoplasm benign GI system tumor benign GI tumor benign digestive system tumor benign gastrointestinal neoplasm benign gastrointestinal system tumor benign gastrointestinal tumor benign neoplasm of digestive system benign neoplasm of gastrointestinal system benign neoplasm of the digestive system benign tumor of GI system benign tumor of digestive system benign tumor of gastrointestinal system benign tumor of the GI system benign tumor of the digestive system benign tumor of the gastrointestinal system gastrointestinal system benign neoplasm benign digestive system neoplasm MONDO:0000386 A well-differentiated neuroendocrine tumor arising from the digestive system. It is characterized by the presence of cells with features similar to those of the normal endocrine cells of the digestive system. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation and hormones. There is mild to moderate nuclear atypia and less than 20 mitoses per 10 HPF. It includes well-differentiated endocrine tumors or carcinoid tumors and well-differentiated endocrine carcinomas. alimentary part of gastrointestinal system neuroendocrine tumor digestive system NET digestive system neuroendocrine tumor digestive system well differentiated neuroendocrine tumor gastroenteropancreatic NET gastroenteropancreatic neuroendocrine tumor gastrointestinal NET gastrointestinal neuroendocrine tumor gastrointestinal neuroendocrine tumors gastrointestinal system neuroendocrine tumor malignant gastrointestinal neuroendocrine tumor GINET digestive system neuroendocrine tumor, grade 1/2 MONDO:0000387 Anemia in which the circulating RBCs are smaller than the usual size of RBCs (microcytic) and have decreased red color (hypochromic). hypochromic microcytic anemia (disease) hypochromic microcytic anemia hypochromic microcytic anemia (disease) hypochromic microcytic anemia MONDO:0000389 atelosteogenesis MONDO:0000390 A rare genetic disorder characterized by macular degeneration in the retina resulting in progressive loss of central vision with retention of the peripheral vision. macular dystrophy, vitelliform vitelliform macular dystrophy vitelliform macular dystrophy MONDO:0000393 A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure. partial fetal alcohol syndrome MONDO:0000395 A physical or cognitive mental abnormality caused by maternal alcohol consumption and its toxic effect on the developing embryo during pregnancy. ARBD alcohol related birth defect alcohol-related birth defect MONDO:0000396 A form of cerebral palsy wherein spasticity is the exclusive impairment present. hypertonic cerebral palsy spastic cerebral palsy MONDO:0000397 A form of cerebral palsy caused by damage to cerebellar structures. ataxic cerebral palsy MONDO:0000400 A subtype of cerebral palsy characterized by both the tight muscle tone of spastic cerebral palsy and the writhing, involuntary muscle movements of athetoid cerebral palsy. mixed cerebral palsy MONDO:0000402 A neuroendocrine carcinoma composed of small malignant cells which are often said to resemble "oat cells" under the microscope. Small cell carcinoma most often affects the lungs. Clinically, this is often a rapidly growing cancer that spreads to distant sites early. oat cell cancer oat cell carcinoma small cell NEC small cell cancer small cell car. (extrapulmonary) small cell carcinoma small cell carcinoma (extrapulmonary) small cell neuroendocrine carcinoma intermediate cell small cell carcinoma small cell carcinoma - intermediate cell small cell carcinoma, intermediate cell small cell carcinoma, intermediate cell (morphologic abnormality) small cell carcinoma MONDO:0000405 A malignant neoplasm involving the anal canal anal canal cancer cancer of anal canal malignant anal canal neoplasm malignant neoplasm of anal canal anal canal cancer MONDO:0000407 A malignant form of pleural solitary fibrous tumor. pleural solitary fibrous tumor, malignant malignant pleural solitary fibrous tumor MONDO:0000408 A group of disorders caused by a prenatal exposure to maternal consumption of alcohol leading to a range of behavioral, cognitive and neurological deficits in the offspring. It is characterized by physical growth problems, distinct facies, and varying psycho-neurological issues. fetal alcohol spectrum disorders FAE (fetal alcohol effects) FAEs (fetal alcohol effects) FASD FASDs alcohol related birth defects alcohol related neurodevelopmental disorder alcohol-related birth defects alcohol-related birth defects (ARBD) - type alcohol-related neurodevelopmental disorder (ARND) - type birth defects, alcohol-related fetal alcohol syndrome fetal alcohol syndrome (FAS) - type growth retardation, facial abnormalities, and central nervous system dysfunction partial fetal alcohol syndrome syndrome, fetal alcohol fetal alcohol spectrum disorder MONDO:0000409 A morphologic finding indicating inflammation of the fetal sac membranes. It is characterized by neutrophilic infiltration of the amnion and chorion. fetal membrane inflammation inflammation of fetal membrane intra-amniotic infection chorioamnionitis MONDO:0000410 An acute inflammation of the umbilical cord. It is characterized by the presence of polymorphonuclear cells migrating from the fetal umbilical cord vessels through the umbilical cord towards the bacteria containing amniotic fluid. funisitis MONDO:0000411 An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep. electro-clinical syndrome electroclinical syndrome MONDO:0000412 An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age. Editor notes: See https://github.com/monarch-initiative/mondo-build/issues/29 neonatal period electroclinical syndrome MONDO:0000413 An electroclinical syndrome with onset in infancy occurring between birth and one year of age. infancy electroclinical syndrome MONDO:0000414 A electroclinical syndrome that occurs during childhood. electroclinical syndrome of childhood pediatric electroclinical syndrome childhood electroclinical syndrome MONDO:0000415 An electroclinical syndrome with onset in adolescence and adulthood. adolescence-adult electroclinical syndrome MONDO:0000417 A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years. early onset absence epilepsy MONDO:0000421 An inherited metabolic disease that is has its basis in the disruption of L-serine biosynthetic process. inborn L-serine biosynthetic process disorder inborn error of L-serine biosynthetic process rare inborn error of L-serine biosynthetic process inborn serine deficiency MONDO:0000424 Low serum levels of vitamin B12 (cobalamin) due to poor intestinal absorption, decreased dietary intake, or increased physiologic requirement. inborn vitamin B12 deficiency (disease) cobalamin deficiency hypocobalaminemia inborn cobalamin metabolic process disorder inborn error of cobalamin metabolic process inborn vitamin B12 deficiency (disease) rare inborn error of cobalamin metabolic process inborn vitamin B12 deficiency MONDO:0000425 X-linked form of disease. X-linked disease or disorder X-linked hereditary disease X-linked hereditary disorder X-linked inherited disease X-linked inherited disorder disease or disorder, X-linked disease, X-linked X linked genetic diseases X-linked genetic disease X-linked genetic diseases disease, X-linked genetic diseases, X-linked genetic genetic disease, X-linked genetic diseases, X chromosome linked genetic diseases, X linked genetic diseases, X-chromosome linked X-linked disease MONDO:0000426 Autosomal dominant form of disease. autosomal dominant disease or disorder autosomal dominant hereditary disorder autosomal dominant inherited disorder disease or disorder, autosomal dominant disease, autosomal dominant autosomal dominant disease MONDO:0000428 Y-linked form of disease. Y-linked disease or disorder disease or disorder, Y-linked disease, Y-linked Y linked genetic diseases Y-linked genetic disease Y-linked genetic diseases disease, Y-linked genetic diseases, Y-linked genetic genetic disease, Y-linked genetic diseases, Y chromosome linked genetic diseases, Y linked genetic diseases, Y-chromosome linked Y-linked disease MONDO:0000429 A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes. autosomal hereditary disorder autosomal inherited disease autosomal inherited disorder autosomal genetic disease MONDO:0000430 This type of lymphoma is not frequently seen in the western hemisphere. Clinically, with the exception of anaplastic large cell lymphoma, mature T- and NK-cell lymphomas are among the most aggressive of all hematopoietic neoplasms. Representative disease entities include mycosis fungoides, angioimmunoblastic T-cell lymphoma, hepatosplenic T-cell lymphoma, and anaplastic large cell lymphoma. PTCL mature T-and NK-cell lymphoma mature T-cell and NK-cell lymphoma mature T-cell and NK-cell non-Hodgkin lymphoma mature T-cell and NK-cell non-Hodgkin's lymphoma mature T-cell lymphoma mature T-cell non-Hodgkin's lymphoma peripheral T-cell lymphoma NK-T cell lymphoma mature T-cell and natural killer cell lymphoma mature T-cell and NK-cell non-Hodgkin lymphoma https://rarediseases.info.nih.gov/diseases/7368/peripheral-t-cell-lymphoma MONDO:0000432 A clonal neoplasm of small B-lymphocytes, lymphoplasmacytoid cells, and plasma cells involving the bone marrow, lymph nodes, and the spleen. The majority of patients have a serum IgM paraprotein. Immunocytoma, lymphoplasmacytic type lymphoma, lymphoplasmacytic, malignant lymphoma, plasmacytic lymphoplasmacytic lymphoma lymphoplasmacytic lymphoma (Waldenstrom macroglobulinemia) lymphoplasmacytoid lymphoma lymphoplasmacytic lymphoma MONDO:0000437 A neurological syndrome characterised by clumsy and uncoordinated movement of the limbs, trunk, and cranial muscles. It results from pathology in the cerebellum and its connections, or in the proprioceptive sensory pathways. ataxia syndrome spinocerebellar Degeneration spinocerebellar ataxia ataxia ataxia, cerebellar ataxias, cerebellar cerebellar Ataxias cerebellar Dysmetrias cerebellar dysmetria rare ataxia In ORDO this is called rare ataxia, we rename as ataxia since all forms are individually rare cerebellar ataxia MONDO:0000440 metabolic acidosis MONDO:0000446 midface dysplasia MONDO:0000447 An autosomal dominant inherited condition characterized by many cysts of various sizes scattered throughout the liver. AD polycystic liver disease ADPLD PCLD isolated congenital polycystic liver disease isolated polycystic liver disease polycystic liver disease congenital cystic liver disease congenital hepatic cyst fibrocystic liver disease autosomal dominant polycystic liver disease https://rarediseases.info.nih.gov/diseases/9457/polycystic-liver-disease MONDO:0000448 A benign or malignant neoplasm arising from paraganglia located along the sympathetic or parasympathetic nerves. Infrequently, it may arise outside the usual distribution of the sympathetic and parasympathetic paraganglia. Tumors arising from the adrenal gland medulla are called pheochromocytomas. Morphologically, paragangliomas usually display a nesting (Zellballen) growth pattern. There are no reliable morphologic criteria to distinguish between benign and malignant paragangliomas. The only definitive indicator of malignancy is the presence of regional or distant metastases. Paraganglionic neoplasm Paraganglionic tumor neoplasm of paraganglion neoplasm of the paraganglion paraganglioma paragangliomas paraganglion neoplasm paraganglion tumor tumor of paraganglion tumor of the paraganglion chemodectoma paraganglioma MONDO:0000450 A multiple sclerosis with a clinical course characterized by a progressive accumulation of neurological disability, independent of relapses, following an initial relapsing-remitting (RR) phase. SPMS secondary-progressive MS secondary progressive multiple sclerosis MONDO:0000451 A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous. PPMS primary-progressive MS primary progressive multiple sclerosis MONDO:0000452 A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset. PRMS progressive-relapsing MS progressive relapsing multiple sclerosis MONDO:0000453 A genetic disease of the electrical system of the heart that consists of a constellation of signs and symptoms, consisting of a short QT interval on an EKG (< 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. Short QT syndrome appears to be inherited in an autosomal dominant pattern, and a few affected families have been identified short QT syndrome ventricular arrhythmia associated with short QT syndrome familial short QT syndrome short QT syndrome MONDO:0000455 An inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision. cone dystrophy progressive cone dystrophy stationary cone dystrophy retinal cone dystrophy cone dystrophy MONDO:0000456 Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency. CCDS CDS cerebral creatine deficiency syndrome creatine deficiency syndrome cerebral creatine deficiency syndrome MONDO:0000457 A molecular subtype of glioblastoma characterized by lack of p53 mutations, chromosome 7 amplifications or deletions, and high levels of EGFR amplification. classical glioblastoma glioblastoma classical subtype classical glioblastoma MONDO:0000458 A molecular subtype of glioblastoma that is associated with younger age at presentation and is characterized by p53 mutations and PDGFRa amplifications. proneural glioblastoma glioblastoma proneural subtype proneural glioblastoma MONDO:0000459 A molecular subtype of glioblastoma characterized by the presence of NF1 mutations. mesenchymal glioblastoma glioblastoma mesenchymal subtype mesenchymal glioblastoma MONDO:0000460 A molecular subtype of glioblastoma characterized by the expression of the neural markers NEFL, GABRA1, SYT1, and SLC12A5. neural glioblastoma glioblastoma neural subtype neural glioblastoma MONDO:0000461 B7 deficiency biotin deficiency biotin deficiency disease vitamine B7 deficiency Editor note: the DO class is 'biotin deficiency' but DO places as a subclass of nutritional. Consider adding grouping for inborn form, see PMID:3318710. MESH seems to refer to this? nutritional biotin deficiency MONDO:0000462 A disease involving the ocular adnexa. disease of ocular adnexa disease or disorder of ocular adnexa disorder of ocular adnexa ocular adnexa disease ocular adnexa disease or disorder eye adnexa disorder MONDO:0000463 Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression. Ochoa syndrome hydronephrosis with peculiar facial expression hydronephrosis-inverted smile syndrome inverted smile-neurogenic bladder syndrome partial facial palsy with urinary abnormalities urofacial syndrome UFS inverted smile and occult neuropathic bladder urofacial Ochoa's syndrome Ochoa syndrome MONDO:0000465 A heart block that is initiated in the atrioventricular node. atrioventricular block (disease) AV block AV nodal block AVB atrioventricular block atrioventricular block (disease) atrioventricular block MONDO:0000466 A disorder characterized by an electrocardiographic finding of prolonged PR interval for a specific population. For adults one common threshold is a PR interval greater than 0.20 seconds. AV block first degree atrioventricular block first degree atrioventricular block, first degree first degree AV block first degree atrioventricular block first-degree atrioventricular block MONDO:0000467 Intermittent failure of atrial electrical impulse conduction to the ventricles. AV block second degree atrioventricular block second degree atrioventricular block, second degree second degree AV block second degree atrioventricular block second-degree heart block second-degree atrioventricular block MONDO:0000468 A disorder characterized by an electrocardiographic finding of complete failure of atrial electrical impulse conduction to the ventricles. This is manifested on the ECG by disassociation of atrial and ventricular rhythms. The atrial rate must be faster than the ventricular rate. (CDISC) AV block third degree atrioventricular block complete atrioventricular block, third degree complete AV block complete atrioventricular block complete heart block non-congenital complete atrioventricular block third degree AV block third degree atrioventricular block third-degree atrioventricular block MONDO:0000469 A disease involving the sinoatrial node. disease of sinoatrial node disease or disorder of sinoatrial node disorder of sinoatrial node sinoatrial node disease sinoatrial node disease or disorder SA node sinuatrial node sinoatrial node disorder MONDO:0000470 A disease involving the endocardium. disease of endocardium disease or disorder of endocardium disorder of endocardium endocardial disease endocardium disease endocardium disease or disorder endocardiopathy endocardium disorder MONDO:0000471 A disease involving the tricuspid valve. disease of tricuspid valve disease or disorder of tricuspid valve disorder of tricuspid valve tricuspid disease tricuspid valve disease tricuspid valve disease or disorder tricuspid valve disorder RH. tricuspid valve disease rheumatic disease of tricuspid valve rheumatic tricuspid valve disease tricuspid valve disorder MONDO:0000473 An impairment of the structure or function of the blood vessels which carry blood away from the heart. arterial disease arterial disorder arteriopathy artery disease artery disease or disorder disease of artery disease or disorder of artery disorder of artery arterial disorder MONDO:0000474 A disease involving the pericardium. disease of pericardium disease or disorder of pericardium disorder of pericardium pericardium disease pericardium disease or disorder pericardium disorder MONDO:0000476 dystonia deformans progressiva Idiopathic torsion dystonia Idiopathic torsion dystonias Oppenheim Ziehen disease Oppenheim-Ziehen disease Progressive torsion spasm childhood torsion disease dystonia 12 dystonia deformans musculorum dystonia musculorum deformans dystonia, Idiopathic torsion dystonias, Idiopathic torsion dystonias, torsion familial dystonia fragments of torsion dystonia idiopathic familial dystonia idiopathic non-familial dystonia idiopathic torsion dystonia spasm, Progressive torsion symptomatic torsion dystonia torsion disease of childhood torsion disease, childhood torsion dystonia torsion dystonia, Idiopathic torsion spasm, Progressive Editor note: TODO generalized dystonia MONDO:0000477 A dystonia that is localized to a specific part of the body. focal dystonia MONDO:0000478 A dystonia that involves two or more unrelated body parts. multifocal dystonia MONDO:0000479 A dystonia that affects two or more adjacent parts of the body. segmental dystonia MONDO:0000480 A focal dystonia of the pelvic floor muscles during attempted defecation. anal region skeletal muscle focal dystonia focal dystonia of anal region skeletal muscle dyskinetic puborectalis dyssynergic defecation puborectalis syndrome rectosphincteric dyssynergia spastic pelvic floor syndrome sphincteric disobedience syndrome anismus MONDO:0000481 Cervical dystonia is a neurological condition characterized by excessive pulling of the muscles of the neck and shoulder resulting in abnormal movements of the head (dystonia).Most commonly, the head turns to one side or the other.Tilting sideways, or to the back or front may also occur.The turning or tilting movements may be accompanied by shaking movement (tremor) and/or soreness of the muscles of the neck and shoulders.Cervical dystonia can occur at any age, but most cases occur in middle age. It often begins slowly and usually reaches a plateau over a few months or years. The cause of cervical dystonia is often unknown. In some cases there is a family history. Several genes have been associated with cervical dystonia, including GNAL, THAP1, CIZ1, and ANO3. Other cases may be linked to an underlying disease (e.g. Parkinson disease), neck trauma, or certain medications. Treatment may include local injections of botulinum toxin, pain medications, benzodiazepines (anti-anxiety medications), anticholinergics,physical therapy, or surgery. spasmodic torticollis cervical dystonia https://rarediseases.info.nih.gov/diseases/10668/cervical-dystonia MONDO:0000482 A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions. hand and arm dystonia writer's cramp organic writer's cramp focal hand dystonia MONDO:0000483 A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes. oculogyric crisis MONDO:0000485 A chronic voice disorder characterized by momentary periods of uncontrolled spasms of the muscles of the larynx. laryngeal dyskinesia laryngeal dystonia spasmodic dysphonia spastic dysphonia abductor spasmodic dysphonia adductor spasmodic dysphonia mixed spasmodic dysphonia (type) spasmodic dystonia MONDO:0000486 A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck. cranio-facial dystonia craniofacial dystonia https://rarediseases.info.nih.gov/diseases/10667/craniofacial-dystonia MONDO:0000487 A multifocal dystonia that involves the arm and leg on the same side of the body. hemidystonia MONDO:0000488 A adenoma that involves the periampullary region of duodenum. periampullary region of duodenum adenoma periampullary adenoma MONDO:0000489 A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes. diabetic encephalopathy MONDO:0000490 A hardening of the kidney glomerulus caused by scarring of the blood vessels. glomerular sclerosis glomerulosclerosis MONDO:0000491 A ischemia that involves the limb. ischemic disease of limb limb ischemia limb ischemic disease limb ischemia MONDO:0000492 Chronic form of venous insufficiency (disease). chronic venous insufficiency (disease) venous insufficiency (disease), chronic chronic venous insufficiency MONDO:0000494 A final common manifestation of a wide variety of chronic kidney diseases characterized by glomerulosclerosis and tubulointerstitial fibrosis. renal fibrosis MONDO:0000495 A behavior disorder characterized by a persistent pattern of defiant, disobedient, and hostile behavior towards authority figures, manifested by a frequent loss of temper, arguing, becoming angry or vindictive, or other negativistic behaviors. oppositional defiant disorder (disease) oppositional defiant disorder oppositional defiant disorder (disease) oppositional defiant disorder MONDO:0000496 Inflammation of the bladder resulting in bloody urine. hemorrhagic cystitis MONDO:0000497 Inflammation of uterine musculature associated with pus in the uterine cavity. inflammation of myometrium myometrium inflammation pyometra pyometritis MONDO:0000498 An anterior ischemic neuropathy that is the cause of vision loss that occurs in temporal arteritis (aka giant cell arteritis) arteritic aion arteritic anterior ischemic optic neuropathy MONDO:0000499 NAION non-arteritic aion nonarteritic anterior ischemic optic neuropathy non-arteritic anterior ischemic optic neuropathy MONDO:0000500 A squamous cell carcinoma that arises from the tongue. It usually presents as a painful ulcerated or nodular lesion. The size of the tumor and the status of the lymph nodes are the most important factors that determine prognosis. scc of the tongue scc of tongue squamous cell carcinoma of the tongue squamous cell carcinoma of tongue tongue scc tongue squamous cell carcinoma tongue squamous cell carcinoma MONDO:0000502 An epithelial neoplasm morphologically characterized by the presence of a villous architectural pattern. Most often it occurs in the large intestine, small intestine, and the stomach in which the neoplastic epithelial cells show dysplastic features. It may also arise in the urinary bladder, urethra, and vagina. villous adenoma villous adenoma MONDO:0000503 A localized non-invasive adenocarcinoma of the lung measuring 3 cm or less. It is characterized by a pure lepidic growth pattern and the lack of stromal, vascular, or pleural invasion. lung adenocarcinoma In situ bronchioloalveolar carcinoma adenosquamous cell carcinoma in situ of lung adenosquamous cell carcinoma in situ of the lung bronchioalveolar carcinoma in situ pulmonary adenocarcinoma lung adenosquamous cell carcinoma in situ stage 0 adenosquamous cell carcinoma of lung stage 0 adenosquamous cell carcinoma of the lung stage 0 adenosquamous cell lung carcinoma stage 0 adenosquamous lung cancer stage 0 adenosquamous lung carcinoma aJCC v6 stage 0 adenosquamous lung carcinoma aJCC v6 and v7 stage 0 adenosquamous lung carcinoma aJCC v7 Editor note: check why NCIT has two classes lung adenocarcinoma in situ MONDO:0000507 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy); early-onset Paget disease of bone, manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia, manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure. IBMPFD inclusion body myopathy with Paget's disease of bone and frontotemporal dementia inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia inclusion body myopathy/Paget disease/frontotemporal dementia limb-girdle muscular dystrophy with Paget disease of bone pagetoid amyotrophic lateral sclerosis pagetoid neuroskeletal syndrome inclusion body myopathy with early-onset Paget disease and frontotemporal dementia inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0000508 A intellectual disability that is part of a larger syndrome. https://github.com/monarch-initiative/mondo/issues/5114 syndrome associated with intellectual disability syndromic intellectual disability syndromic intellectual disability MONDO:0000509 An intellectual disability that is not part of a larger syndrome. isolated intellectual disability nonsyndromic intellectual disability non-syndromic intellectual disability MONDO:0000510 A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. [url:http://en.wikipedia.org/wiki/Synucleinopathies ] alpha synucleinopathies synucleinopathies synucleinopathy MONDO:0000513 A ameloblastoma that involves the bone tissue. ameloblastoma of bone tissue bone tissue ameloblastoma bone ameloblastoma MONDO:0000514 A squamous cell carcinoma that involves the bone tissue. bone tissue squamous cell carcinoma bone squamous cell carcinoma MONDO:0000515 A chondrosarcoma (disease) that involves the bone tissue. bone tissue chondrosarcoma (disease) chondrosarcoma (disease) of bone tissue bone chondrosarcoma MONDO:0000516 A chondroma that involves the phalanx. phalanx chondroma phalanx chondroma MONDO:0000517 A medulloblastoma that involves the brainstem. brainstem medulloblastoma medulloblastoma of brainstem brain stem medulloblastoma MONDO:0000518 A chordoma (disease) that involves the fused sacrum. chordoma (disease) of fused sacrum fused sacrum chordoma (disease) sacrum chordoma MONDO:0000519 A oligodendroglioma that involves the corpus callosum. corpus callosum oligodendroglioma oligodendroglioma of corpus callosum corpus callosum oligodendroglioma MONDO:0000520 An ependymal tumor affecting the parietal lobe of the brain. ependymal tumor of parietal lobe parietal lobe ependymal tumor parietal lobe ependymoma parietal lobe ependymal tumor MONDO:0000521 A carcinoma that arises from the major or minor salivary glands. Representative examples include carcinoma ex pleomorphic adenoma, adenocarcinoma, adenoid cystic carcinoma, and mucoepidermoid carcinoma. salivary gland cancer carcinoma of saliva-secreting gland carcinoma of salivary gland carcinoma of the salivary gland saliva-secreting gland carcinoma salivary gland carcinoma salivary carcinoma salivary gland carcinoma MONDO:0000524 A mixed germ cell cancer that is located in areas of the body other than the ovary or testicle. mixed extragonadal germ cell cancer MONDO:0000525 A neoplasm that arises from the glandular epithelium of the cecal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features. cecum adenoma caecum villous adenoma cecal villous adenoma cecum villous adenoma villous adenoma of cecum villous adenoma of the cecum caecum adenoma cecum villous adenoma MONDO:0000527 An adenoma that arises from the colon. The group of colonic adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis. adenoma of colon adenoma of the colon colon adenoma colonic adenoma colon adenoma MONDO:0000530 An adenoma that arises from the rectum. The group of rectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis. adenoma of rectum adenoma of the rectum rectal adenoma rectum adenoma rectum adenoma MONDO:0000531 A mucoepidermoid carcinoma that involves the bronchus. bronchus mucoepidermoid carcinoma bronchus mucoepidermoid carcinoma MONDO:0000532 A lung combined type small cell carcinoma that has material basis in epithelial tissue of glandular origin. lung combined type small cell adenocarcinoma MONDO:0000534 A mucoepidermoid carcinoma that involves the trachea. trachea mucoepidermoid carcinoma trachea mucoepidermoid carcinoma MONDO:0000535 A squamous cell carcinoma that involves the tonsil. tonsil squamous cell carcinoma tonsil squamous cell carcinoma MONDO:0000536 A squamous cell carcinoma that arises from the pharynx. pharyngeal (including hypopharyngeal and oropharyngeal) squamous cell carcinoma pharyngeal squam. cell carcinoma pharyngeal squamous cell carcinoma pharyngeal throat squamous cell cancer pharynx squamous cell carcinoma pharyngeal squamous cell carcinoma MONDO:0000539 A rhabdoid tumor that involves the striated muscle tissue. striated muscle tissue rhabdoid tumor striated muscle rhabdoid tumor MONDO:0000540 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. carcinoid tumor of small bowel carcinoid tumor of small intestine carcinoid tumor of the small bowel carcinoid tumor of the small intestine grade 1 neuroendocrine neoplasm of small intestine small bowel carcinoid tumor small intestinal NET G1 small intestinal carcinoid tumor small intestinal neuroendocrine tumor G1 small intestine NET G1 small intestine carcinoid tumor small intestine carcinoid tumor (disease) small intestine neuroendocrine neoplasm G1 small intestine neuroendocrine tumor, well differentiated, low grade small intestine carcinoid neuroendocrine tumor small intestinal neuroendocrine tumor G1 MONDO:0000541 A adenocarcinoma that involves the jejunum. jejunal adenocarcinoma (disease) jejunal adenocarcinoma jejunal adenocarcinoma (disease) jejunum adenocarcinoma jejunal adenocarcinoma MONDO:0000543 A melanoma (disease) that involves the ovary. metastatic melanoma of ovary ovary melanoma (disease) ovary metastatic melanoma melanoma (disease) of ovary ovarian melanoma MONDO:0000544 A melanoma that arises from a mucosal site. mucosal melanoma mucosal melanoma MONDO:0000545 A adenoid cystic carcinoma that involves the sublingual gland. sublingual gland adenoid cystic carcinoma sublingual gland adenoid cystic carcinoma MONDO:0000548 An invasive malignant neoplasm that arises from the ovary and is characterized by a predominance of clear and hobnail malignant epithelial cells. clear-cell ovarian carcinoma malignant ovarian clear cell neoplasm malignant ovarian clear cell tumor ovarian clear cell carcinoma ovarian clear cell cancer MONDO:0000549 A relatively uncommon neuroblastoma that is found in the neck. neck neuroblastoma neuroblastoma of neck cervical neuroblastoma MONDO:0000550 A benign or malignant sympathetic paraganglioma arising from paraganglia outside the adrenal gland. Clinical symptoms are related to secretion of catecholamines. Representative examples include the superior and inferior paraaortic and bladder paragangliomas. extra-adrenal Chromaffinoma extra-adrenal chromaffin neoplasm extra-adrenal pheochromocytoma extra-adrenal sympathetic Paraganglionic neoplasm extra-adrenal sympathetic paraganglioma extraadrenal pheochromocytoma Editor note: DO classifies as cancer but we treat as neutral extra-adrenal sympathetic paraganglioma MONDO:0000551 A neuroblastoma that involves the retroperitoneal space. neuroblastoma of retroperitoneal space retroperitoneal space neuroblastoma retroperitoneal neuroblastoma MONDO:0000552 An adenocarcinoma of the breast arising from the lobules. This is a relatively uncommon carcinoma, represents approximately 10% of the breast adenocarcinomas and is often bilateral or multifocal. carcinoma of lobule of mammary gland lobular adenocarcinoma lobular breast carcinoma lobular carcinoma lobular carcinoma of breast lobular carcinoma of the breast lobule of mammary gland carcinoma breast lobular carcinoma MONDO:0000553 A endometrial carcinoma (disease) that involves the body of uterus. body of uterus endometrial carcinoma (disease) endometrial carcinoma (disease) of body of uterus uterine corpus endometrial carcinoma MONDO:0000554 An adenocarcinoma that arises from the endocervix. It is the most common type of endocervical adenocarcinoma. The neoplastic epithelium shows a pseudostratified architecture and the malignant cells have enlarged, elongated, and hyperchromatic nuclei. endocervical adenocarcinoma, usual type endocervix adenocarcinoma endocervical adenocarcinoma MONDO:0000563 GRID2-related spinocerebellar ataxia the DO class DOID:0050988 is named 'GRID2-related spinocerebellar ataxia' and it is asserted to be AD. Most GRID18 mutations are AR, but it is rarelt AD [https://www.ncbi.nlm.nih.gov/books/NBK1138/; Coutelier et al [2015b]]. Here we assume the DO class refers to the rare AD form. Consider merging. GRID2-related autosomal dominant spinocerebellar ataxia MONDO:0000565 Infective endocarditis (IE) is an infection of the inner lining of the heart chambers (endocardium) and valves. This condition is sometimes called 'endocarditis,' although it is important to distinguish it from non-infective endocarditis. IE is caused bybacteria, fungi, or other germs invading the bloodstream and attaching to the heart. IE can damagethe heart and cause serious and sometimes fatal complications. It can develop quickly or slowly depending on what type of germ is causing it and whether there is an underlying heart problem. Common symptoms of IE are fever and other flu-like symptoms, but signs and symptoms can vary. It can also cause problems in many other parts of the body besides the heart. IE is typically treated with antibiotics for several weeks; some individuals may need heart surgery to repair or replace heart valves or remove infected heart tissue. endocarditis infective endocarditis, infective infective endocarditis https://rarediseases.info.nih.gov/diseases/6337/infective-endocarditis MONDO:0000568 A hypersensitivity reaction type II disease that involves the central nervous system. central nervous system autoimmune disease central nervous system hypersensitivity reaction type II disease autoimmune disorder of central nervous system MONDO:0000569 A hypersensitivity reaction type II disease that involves the endocrine system. endocrine system autoimmune disease endocrine system hypersensitivity reaction type II disease autoimmune disorder of endocrine system MONDO:0000572 A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes. recombinase activating gene 1 deficiency recombinase activating gene 1 deficiency MONDO:0000573 A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes. recombinase activating gene 2 deficiency recombinase activating gene 2 deficiency MONDO:0000577 Anemia, the cause of which is present at birth. congenital anemia congenital anemia (disease) congenital anemia MONDO:0000583 IgB deficiency immunoglobulin beta deficiency MONDO:0000584 A hypobammaglobulinemia that is a B cell deficiency that has material basis in a mutation in a cytoplasmic linker or adaptor protein that plays a critical role in B cell development, the B cell linker protein (BLNK) gene. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. The BLNK gene is associated with intracellular calcium mobilization, essential for cell activation. B-cell linker protein deficiency BLNK deficiency B cell linker protein deficiency MONDO:0000586 A hypersensitivity reaction type II disease that involves the exocrine system. exocrine system autoimmune disease exocrine system hypersensitivity reaction type II disease autoimmune disorder of exocrine system MONDO:0000587 An autoimmune form of otorhinolaryngologic disease. autoimmune otorhinolaryngologic disease autoimmune disease of eyes, ear, nose and throat Editor note: ENT typically excludes eye, but the DOID class includes this autoimmune disease of ear, nose and throat MONDO:0000588 A hypersensitivity reaction type II disease that involves the alimentary part of gastrointestinal system. alimentary part of gastrointestinal system autoimmune disease alimentary part of gastrointestinal system hypersensitivity reaction type II disease autoimmune disease of alimentary part of gastrointestinal system autoimmune disorder of gastrointestinal tract MONDO:0000589 A hypersensitivity reaction type II disease that involves the musculoskeletal system. musculoskeletal system autoimmune disease musculoskeletal system hypersensitivity reaction type II disease autoimmune disorder of musculoskeletal system MONDO:0000590 A hypersensitivity reaction type II disease that involves the peripheral nervous system. peripheral nervous system autoimmune disease peripheral nervous system hypersensitivity reaction type II disease autoimmune disorder of peripheral nervous system MONDO:0000591 A cardiomyopathy that is due to abnormalities in heart muscle cells. intrinsic cardiomyopathy primary cardiomyopathy intrinsic cardiomyopathy MONDO:0000592 A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination. specific developmental disorder specific delays in development specific developmental disorder MONDO:0000594 A category of developmental disorders characterized by impaired communication and socialization skills. The impairments are incongruent with the individual's developmental level or mental age. These disorders can be associated with general medical or genetic conditions. pervasive development disorder pervasive child development disorders pervasive development disorders pervasive developmental disorder MONDO:0000595 A category of psychiatric disorders characterized by a disturbance in sexual desire and in the psychophysiological changes that make up the sexual response cycle. sexual disorder sexual and gender identity disorders MONDO:0000596 Disorders that include recurrent, intense sexually arousing fantasies, sexual urges, or behaviors generally involving nonhuman objects, suffering of oneself or partners, or children or other nonconsenting partners. (from DSM-V) disorder of sexual preference disorder, Paraphilic disorders, Paraphilic paraphilia disorder paraphilic disorder Deviations, Sex Paraphilias Sex Deviations Sex deviation deviation, Sex paraphilia paraphilic disorder MONDO:0000597 A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others. Munchausen by proxy syndrome Munchausen syndrome by proxy Munchausen by proxy https://rarediseases.info.nih.gov/diseases/7117/munchausen-by-proxy-syndrome MONDO:0000598 A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language. aphasia MONDO:0000599 A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition. writing disorder MONDO:0000600 A specific phobia that involves an irrational fear of contracting a disease. nosophobia MONDO:0000602 A hypersensitivity reaction type II disease that involves the blood. blood autoimmune disease blood hypersensitivity reaction type II disease autoimmune disorder of blood MONDO:0000603 A hypersensitivity reaction type II disease that involves the cardiovascular system. cardiovascular system autoimmune disease cardiovascular system hypersensitivity reaction type II disease autoimmune disorder of cardiovascular system MONDO:0000605 An immune system disease that has basis in dysregulation of the hypersensitivity reaction, an inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system. allergic reaction sensitive sensitivity hypersensitive hypersensitivity hypersensitivity reaction hypersensitivity reaction disease MONDO:0000607 A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma. CTCL PCTCL T-cell non-Hodgkin's lymphoma of skin T-cell non-Hodgkin's lymphoma of the skin cutaneous T cell lymphoma cutaneous T-cell lymphoma cutaneous T-cell non-Hodgkin lymphoma cutaneous T-cell non-Hodgkin's lymphoma primary cutaneous T-cell non-Hodgkin lymphoma primary cutaneous T-cell non-Hodgkin's lymphoma skin T-cell non-Hodgkin's lymphoma primary cutaneous T-cell non-Hodgkin lymphoma MONDO:0000608 FJHN familial juvenile gouty nephropathy familial juvenile hyperuricemic nephropathy familial nephropathy associated with hyperuricemia familial nephropathy with gout gouty nephropathy, familial juvenile juvenile gout juvenile gouty nephropathy nephropathy, familial, with gout tubulointerstitial kidney disease gouty nephropathy, familial familial juvenile hyperuricemic nephropathy MONDO:0000610 Formation of a non-infectious thrombus, referred to as vegetation, on previously undamaged endocardium. It usually occurs as a complication of connective-tissue diseases and cancers because of the associated hypercoagulable state (see thrombophilia). non-bacterial thrombotic endocarditis nonbacterial thrombotic endocarditis marantic endocarditis MONDO:0000611 A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer. pre-malignant neoplasm MONDO:0000612 A malignant neoplasm involving the lymphatic part of lymphoid system cancer of lymphatic part of lymphoid system lymphatic part of lymphoid system cancer malignant lymphatic part of lymphoid system neoplasm malignant neoplasm of lymphatic part of lymphoid system lymphatic system cancer MONDO:0000615 Editor note: check why not in NCIT; note also that triple-positive should be classified here progesterone-receptor positive breast cancer MONDO:0000616 Editor note: check why not in NCIT; note also that triple-negative should be classified here progesterone-receptor negative breast cancer MONDO:0000618 Her2-receptor negative breast cancer MONDO:0000620 A non-metastasizing neoplasm arising from the breast parenchyma. benign breast neoplasm benign breast tumor benign neoplasm of breast benign neoplasm of the breast benign tumor of breast benign tumor of the breast breast benign neoplasm breast benign neoplasm MONDO:0000621 A malignant neoplasm involving the immune system cancer of immune system immune system cancer malignant immune system neoplasm malignant neoplasm of immune system immune system cancer MONDO:0000624 A non-metastasizing neoplasm that arises from the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, and benign ovarian germ cell tumor. benign female reproductive system neoplasm benign female reproductive system tumor benign gynecologic neoplasm benign gynecologic tumor female reproductive organ benign neoplasm benign female reproductive system neoplasm MONDO:0000625 A non-metastasizing neoplasm that arises from the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, seminal vesicle cystadenoma, and epididymal adenomatoid tumor. benign Male reproductive system neoplasm benign Male reproductive system tumor male reproductive organ benign neoplasm benign male reproductive system neoplasm MONDO:0000626 A benign neoplasm that involves the vestibular gland. vestibular gland benign neoplasm vestibular gland benign neoplasm MONDO:0000627 A non-metastasizing, functioning or non-functioning neoplasm that arises from an endocrine organ. Representative examples include thyroid gland follicular adenoma and parathyroid gland adenoma. benign endocrine gland neoplasm benign endocrine gland tumor benign endocrine neoplasm benign endocrine tumor benign neoplasm of endocrine gland benign neoplasm of the endocrine gland benign tumor of endocrine gland benign tumor of the endocrine gland endocrine gland benign neoplasm endocrine organ benign neoplasm benign endocrine neoplasm MONDO:0000628 A benign neoplasm that involves the central nervous system. central nervous system benign neoplasm central nervous system organ benign neoplasm MONDO:0000629 A benign neoplasm that involves the cardiovascular system. cardiovascular system benign neoplasm cardiovascular organ benign neoplasm MONDO:0000630 A benign neoplasm that involves the immune organ. immune organ benign neoplasm immune system organ benign neoplasm MONDO:0000631 A neoplasm that arises from the bone or articular cartilage and does not invade adjacent tissues or metastasize to other anatomic sites. benign bone neoplasm benign bone tumor benign neoplasm of bone benign neoplasm of the bone benign osseous neoplasm benign osseous tumor benign tumor of bone benign tumor of the bone bone tissue benign neoplasm bone benign neoplasm MONDO:0000632 A non-metastasizing neoplasm that arises from the uterine corpus or the cervix. Representative examples include leiomyoma, adenomyoma, and endocervical polyp. Uterous neoplasms, benign Uterous tumors, benign benign neoplasm of the uterus benign neoplasm of uterus benign tumor of the uterus benign tumor of uterus benign uterine neoplasm benign uterine neoplasms benign uterine tumor benign uterine tumors benign uterus neoplasm benign uterus neoplasms benign uterus tumor benign uterus tumors uterine neoplasms, benign uterine tumors, benign uterus benign neoplasm uterine benign neoplasm MONDO:0000633 A benign neoplasm that involves the sense organ. sense organ benign neoplasm sensory organ benign neoplasm MONDO:0000634 A non-metastasizing neoplasm arising from any of the organs of the thoracic cavity. Representative examples include pleural adenomatoid tumor, chest wall lipoma, mediastinal schwannoma, and lung hamartoma. benign neoplasm of the thorax benign neoplasm of thorax benign thoracic neoplasm benign thoracic tumor benign tumor of the thorax benign tumor of thorax thoracic segment of trunk benign neoplasm thoracic benign neoplasm MONDO:0000636 A benign neoplasm that involves the musculoskeletal system. musculoskeletal system benign neoplasm musculoskeletal system benign neoplasm MONDO:0000637 A malignant neoplasm involving the musculoskeletal system cancer of musculoskeletal system malignant musculoskeletal system neoplasm malignant neoplasm of musculoskeletal system musculoskeletal system cancer skeletal system cancer musculoskeletal system cancer MONDO:0000638 A form of glioma without malignant characteristics. glioma, benign benign glioma MONDO:0000639 A cancer involving a cartilage tissue. cancer of cartilage tissue cartilage tissue cancer cartilaginous cancer malignant cartilage tissue neoplasm malignant neoplasm of cartilage tissue cartilage cancer https://rarediseases.info.nih.gov/diseases/6004/cartilaginous-cancer MONDO:0000640 A neuroectodermal tumor that involves the central nervous system. CNS PNET CNS primitive neuroectodermal neoplasm CNS primitive neuroectodermal tumor central nervous system PNET central nervous system neuroectodermal tumor central nervous system primitive neuroectodermal neoplasm central nervous system primitive neuroectodermal tumor central nervous system primitive neuroectodermal tumor (WHO grade IV) central primitive neuroectodermal neoplasm central primitive neuroectodermal tumor primitive neuroectodermal tumor of central nervous system NCIT calls this CNS embryonal tumor, NOS central nervous system primitive neuroectodermal neoplasm MONDO:0000642 A meningioma (disease) that involves the brain. brain meningioma (disease) meningioma (disease) of brain Editor note: TODO check brain meningioma MONDO:0000643 A non-metastasizing neoplasm that arises from the vulva. Representative examples include cellular angiofibroma, melanocytic nevus, nodular hidradenoma, and Bartholin gland adenoma. benign neoplasm of the vulva benign neoplasm of vulva benign tumor of the vulva benign tumor of vulva benign vulva neoplasm benign vulva tumor benign vulval neoplasm benign vulvar neoplasm benign vulvar tumor mammalian vulva benign neoplasm vulva benign neoplasm vulvar benign neoplasm MONDO:0000644 A non-metastasizing neoplasm that arises from the cervix. Representative examples include squamous papilloma, endocervical polyp, and rhabdomyoma. benign cervical neoplasm benign cervix uteri neoplasm benign cervix uteri tumor benign neoplasm of cervix uteri benign neoplasm of the cervix uteri benign neoplasm of the uterine cervix benign neoplasm of uterine cervix benign tumor of cervix uteri benign tumor of the cervix uteri benign tumor of the uterine cervix benign tumor of uterine cervix benign uterine cervix neoplasm benign uterine cervix tumor uterine cervix benign neoplasm cervical benign neoplasm MONDO:0000645 A non-metastasizing neoplasm that arises from the fallopian tube. Representative examples include papilloma, adenofibroma, and leiomyoma. benign fallopian tube neoplasm benign fallopian tube tumor benign neoplasm of fallopian tube benign neoplasm of the fallopian tube benign tumor of fallopian tube benign tumor of fallopian tubes benign tumor of the fallopian tube fallopian tube benign neoplasm fallopian tube neoplasm, benign fallopian tube tumor, benign fallopian tube benign neoplasm MONDO:0000646 A non-metastasizing neoplasm that arises from the ovary. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, benign Brenner tumor, thecoma, and fibroma. benign neoplasm of ovary benign neoplasm of the ovary benign ovarian neoplasm benign ovarian tumor benign tumor of ovary benign tumor of the ovary ovary benign neoplasm ovarian benign neoplasm MONDO:0000647 A non-metastasizing neoplasm that arises from the vagina. Representative examples include squamous papilloma and melanocytic nevus. benign neoplasm of the vagina benign neoplasm of vagina benign tumor of the vagina benign tumor of vagina benign vaginal neoplasm benign vaginal neoplasms benign vaginal tumor vagina benign neoplasm vagina female reproductive organ benign neoplasm vaginal benign neoplasm benign vaginal neoplasm MONDO:0000648 Abnormal growth of cells in the nervous system without evidence of malignant characteristics. Unlike other organ systems, tumors in the central nervous system can have benign histological characteristics but still have life threatening effects due to their location within the neuraxis (e.g., brainstem gliomas). benign neoplasm of nervous system benign neoplasm of the nervous system benign nervous system neoplasm benign nervous system tumor benign tumor of nervous system benign tumor of the nervous system nervous system benign neoplasm nervous system neoplasm, benign nervous system benign neoplasm MONDO:0000649 A malignant neoplasm involving the sensory system cancer of sensory system malignant neoplasm of sensory system malignant sensory system neoplasm sensory system cancer sensory system cancer MONDO:0000650 A non-metastasizing neoplasm that arises from the peritoneal cavity. Representative examples include adenomatoid tumor and disseminated peritoneal leiomyomatosis. benign peritoneal neoplasm peritoneum benign neoplasm peritoneal benign neoplasm MONDO:0000652 A benign neoplasm that involves the integumental system. integumental system benign neoplasm integumentary system benign neoplasm MONDO:0000653 A malignant neoplasm involving the integumental system cancer of integumental system integumental system cancer malignant integumental system neoplasm malignant neoplasm of integumental system integumentary system cancer MONDO:0000654 A non-metastasizing neoplasm that arises from the connective and soft tissue. Representative examples include lipoma, leiomyoma, fibroma, and osteoma. benign connective and soft tissue neoplasm benign connective and soft tissue tumor benign mesenchymal cell neoplasm benign neoplasm of the soft tissue and bone benign tumor of the soft tissue and bone connective and soft tissue neoplasm, benign connective tissue benign neoplasm neoplasm of soft tissue neoplasm of soft tissues soft tissue benign neoplasm tumor of the soft tissue benign connective and soft tissue neoplasm MONDO:0000659 A heavy chain disease that results from an overproduction of delta antibody (IgD). IgD heavy chain disease delta chain disease delta heavy chain disease delta-heavy chain disease MONDO:0000660 An agnosia that is a loss of motion perception. akinetopsia MONDO:0000661 An agnosia that is a deficiency in understanding, processing, or describing emotions. alexithymia MONDO:0000662 An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals. receptive amusia amusia MONDO:0000663 An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments. anosognosia MONDO:0000664 An agnosia that is a loss of the ability to distinguish visual shapes. apperceptive agnosia MONDO:0000665 Apraxia is a neurological disorder characterized by the inability to perform tasks or movements, despite having the desire and physical ability to perform them. It is caused by damage to the brain, especially the parietal lobe, and can arise from many diseases, tumors, a stroke, or traumatic brain injury. In some cases it is present from birth. There are several types of apraxia, which may occur alone or together. These include: Buccofacial or orofacial apraxia is the inability to carry out facial movements on demand. This may include licking the lips, sticking out the tongue, whistling, coughing, or winking. Ideational apraxia is the inability to carryout learned, complex tasks with multiple, sequential movements. This may include dressing, eating, and bathing. Ideomotor apraxia is the inability to perform a learned task (such as using a tool) or communicate using gestures (like waving good-bye). Limb-kinetic apraxia is the inability to make fine, precise movements with an arm or leg. This may include buttoning a shirt or tying a shoe. Verbal apraxia is difficulty coordinating mouth and speech movements. Verbal apraxia may be acquired or present from birth. Constructional apraxia is the inability to copy, draw, or construct simple figures. Oculomotor apraxia is difficulty moving the eyes on command. Treatment of apraxia may include physical, speech, or occupational therapy. If apraxia occurs as a symptom of another disorder, treatment should be directed to the underlying condition. Apraxias dyspraxia apraxia https://rarediseases.info.nih.gov/diseases/5838/apraxia MONDO:0000666 An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the abilty to describe them. associative agnosia associative visual agnosia MONDO:0000667 An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal. auditory agnosia MONDO:0000668 An agnosia that is a loss of the ability to orient parts of the body. autotopagnosia MONDO:0000669 An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it. color agnosia MONDO:0000670 An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact. cortical deafness MONDO:0000671 An agnosia characterized by an inabilty to distinguish, name, or recognize the fingers finger agnosia (disease) finger agnosia finger agnosia (disease) manual digit agnosia It is one of a tetrad of symptoms in Gerstmann syndrome, although it is also possible for finger agnosia to exist on its own without any other disorder: Della Sala, S, and Spinnler, H. Finger Agnosia: fiction or reality? Archives of Neurology 51.5 (1994): 448–50. finger agnosia MONDO:0000672 An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details. form agnosia MONDO:0000673 Agnosia characterized by the inability to integrate perceptual wholes within knowledge. integrative agnosia MONDO:0000674 An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field. mirror agnosia MONDO:0000675 Loss of the ability to perceive and process pain. analgesia pain agnosia MONDO:0000676 An agnosia that is a loss of the ability to recognize familiar voices. phonagnosia MONDO:0000677 An agnosia that is a loss of the ability to visually recognise an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognise the object. semantic agnosia MONDO:0000678 An agnosia that is a loss of the ability to recgonize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time. simultanagnosia https://rarediseases.info.nih.gov/diseases/11943/simultanagnosia MONDO:0000679 An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction. expressive agnosia social emotional agnosia MONDO:0000680 An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight. astereognosia (disease) astereognosia astereognosia (disease) somatosensory agnosia astereognosia MONDO:0000681 An agnosia that is a loss of the ability to recognize or identify objects by touch alone. tactile agnosia MONDO:0000682 An agnosia that is a loss of the ability to comprehend the succession and duration of events. time agnosia MONDO:0000683 An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognise objects. topographical agnosia MONDO:0000684 An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful. verbal auditory agnosia MONDO:0000685 An inability to recognize or interpret objects by sight. visual agnosia (disease) visual agnosia visual agnosia (disease) visuoperceptual agnosia visual agnosia MONDO:0000686 Loss of the power to comprehend written materials despite preservation of the ability to write (i.e., alexia without agraphia). This condition is generally attributed to lesions that 'disconnect' the visual cortex of the non-dominant hemisphere from language centers in the dominant hemisphere. This may occur when a dominant visual cortex injury is combined with underlying white matter lesions that involve crossing fibers from the occipital lobe of the opposite hemisphere. (From Adams et al., Principles of Neurology, 6th ed, p483) Agnosias, visual verbal agnosia, visual verbal alexia without agraphia Agraphias, alexia without Blindnesses, Pure Word Pure Word Blindnesses Pure Word blindness Pure alexia Pure alexia without agraphia Pure alexias Word Blindnesses, Pure Word blindness, Pure agraphia, alexia without alexia syndrome without agraphia alexia without Agraphias alexias, Pure blindness, Pure Word verbal Agnosias, visual verbal agnosia, visual visual verbal Agnosias visual verbal agnosia without Agraphias, alexia without agraphia, alexia alexia without agraphia MONDO:0000687 An alopecia areata that involves diffuse loss of hair over the whole scalp. Cazenave's vitiligo Celsus' vitiligo Jonston's alopecia alopecia celsi marginal alopecia patchy alopecia diffuse alopecia areata MONDO:0000688 An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage. https://github.com/monarch-initiative/mondo/issues/4985 disorder of organic acid metabolism organic acid metabolism disorder inborn error of organic acid metabolic process inborn organic acid metabolic process disorder organic acidemia organic aciduria rare inborn error of organic acid metabolic process inherited organic acidemia inborn organic aciduria https://rarediseases.info.nih.gov/diseases/9433/organic-acidemia MONDO:0000690 Preoccupations with appearance or self-image causing significant distress or impairment in important areas of functioning. body dysmorphia dysmorphic syndrome dysmorphophobia body dysmorphic disorder MONDO:0000693 A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes. bipolar II disorder bipolar 2 disorder bipolar ll disorder bipolar II disorder MONDO:0000694 A syndrome characterized by depressions that recur annually at the same time each year, usually during the winter months. Other symptoms include anxiety, irritability, decreased energy, increased appetite (carbohydrate cravings), increased duration of sleep, and weight gain. sad (seasonal affective disorder) can be treated by daily exposure to bright artificial lights (phototherapy), during the season of recurrence. SADS sad seasonal affective disorder winter depression seasonal affective disorder MONDO:0000698 An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway. gamma-amino butyric acid metabolism disorder MONDO:0000700 A migraine disorder characterized by individual and family history of aura that includes motor weakness. FHM familial hemiplegic migraine hereditary hemiplegic migraine hemiplegic migraine, familial hemiplegic-ophthalmoplegic migraine familial hemiplegic migraine MONDO:0000701 Inflammation of the colon due to colonic ischemia resulting from alterations in systemic circulation or local vasculature. colonic ischemia ischemic colitis MONDO:0000702 Inflammation of the colon that is only apparent by microscopic examination. microscopic colitis MONDO:0000703 A type of microscopic colitis of unknown etiology. It is characterized by the presence of collagen deposits in the lamina propria of the colonic mucosa. Patients present with chronic watery diarrhea. Colonoscopy reveals normal-appearing mucosa. The diagnosis is made with the microscopic examination of the colonic biopsy samples. collagenous colitis https://rarediseases.info.nih.gov/diseases/6135/collagenous-colitis MONDO:0000704 Microscopic colitis characterized by the accumulation of lymphocytes in the colonic epithelium and lamina propria. Patients present with chronic watery diarrhea. Colonoscopy reveals normal colonic mucosa. The diagnosis is made with the microscopic examination of the colonic biopsy samples. lymphocytic colitis MONDO:0000705 A bacterial infection of the colon secondary to infection with Clostridium difficile bacteria. This infection generally results from the loss of normal gut flora secondary to recent antibiotic use, and manifests as copious watery stools, with associated abdominal pain and myalgia. C. difficile is the most common cause of pseudomembranous colitis, and can progress to toxic megacolon if left untreated. C. diff colitis C. diff infection Clostridioides difficile caused colitis (disease) Clostridioides difficile colitis (disease) Clostridium difficile infection pseudomembranous colitis Clostridium difficile colitis MONDO:0000706 A colitis caused by the introduction of harsh chemicals to the colon by an enema or other procedure. Chemical colitis can resemble ulcerative colitis, infectious colitis and pseudomembranous colitis endoscopically. chemical colitis MONDO:0000707 A colitis which can occur as a complication of ileostomy or colostomy. diversion colitis MONDO:0000708 jejunoileitis Crohn jejunoileitis MONDO:0000709 An Crohn disease involving a pathogenic inflammatory response in the ileum. Crohn's ileitis ileitis Crohn ileitis MONDO:0000710 An inflammatory bowel disease characterized by inflammation located in stomach and located in duodenum, has symptom nausea, has symptom vomiting, has symptom weight loss and has symptom loss of appetite. gastroduodenal Crohn's disease upper GI Crohn's disease gastroduodenal Crohn disease MONDO:0000715 A adenoid cystic carcinoma that involves the lymph node. lymph node adenoid cystic carcinoma lymph node adenoid cystic cancer lymph node adenoid cystic carcinoma MONDO:0000716 An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell. agraphia MONDO:0000721 A metabolic metabolic disorder characterized by excess urinary excretion of the purine base xanthine. xanthinuria MONDO:0000722 A synpolydactyly that is not part of a larger syndrome. isolated synpolydactyly nonsyndromic synpolydactyly synpolydactyly non-syndromic synpolydactyly MONDO:0000723 A speech disorder characterized by frequent sound or syllable repetitions, sound prolongations, or other dysfluencies that are inappropriate for the individual's age. stammering stutter stuttering familial persistent stuttering stuttering, familial persistent Editor note: check this; consider subclass for familial stutter disorder MONDO:0000724 A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors. language impairment (disease) specific language impairment MONDO:0000726 A scoliosis with no known cause. idiopathic scoliosis MONDO:0000727 A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm. myopathy, scapuloperoneal scapuloperoneal syndrome, myopathic type scapuloperoneal myopathy MONDO:0000728 The drooping of the upper eyelid. ptosis (disease) blepharoptosis drooping eyelid eyelid ptosis ptosis ptosis (disease) ptosis MONDO:0000732 A mitochondrial oxidative phosphorylation disorder in which multiple mitochondrial respiratory chain complexes. combined oxidative phosphorylation deficiency https://rarediseases.info.nih.gov/diseases/12893/combined-oxidative-phosphorylation-deficiency MONDO:0000733 flat cornea cornea plana MONDO:0000734 Ohdo blepharophimosis syndrome Ohdo syndrome Ohdo syndrome and variants MONDO:0000736 A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution. dyschromatosis universalis DUH dyschromatosis universalis hereditaria https://rarediseases.info.nih.gov/diseases/1996/dyschromatosis-universalis-hereditaria MONDO:0000739 Inflammation of the uvula. inflammation of palatine uvula palatine uvula inflammation acute uvulitis uvulitis MONDO:0000740 An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has symptom snoring, has symptom hyponasality, has symptom otitis media with effusion, has symptom mouth breathing. adenoidal hypertrophy enlarged adenoids adenoid hypertrophy MONDO:0000741 Inflammation of the skin at the corners of the mouth characterized by redness, fissures or crusts. angle of oral opening cheilitis angular cheilitis angular cheilosis angular stomatitis cheilitis of angle of oral opening commissural cheilitis perleche perlèche cheilosis angular cheilitis MONDO:0000743 An epithelial hyperplasia of the oral cavity mucosa associated with Epstein-Barr virus and found almost exclusively in persons with HIV infection. The lesion consists of a white patch that is often corrugated or hairy. hairy leukoplakia of mouth hairy leukoplakia of oral mucosa hairy leukoplakia of the mouth hairy leukoplakia of the oral mucosa mouth hairy leukoplakia oral cavity hairy leukoplakia oral hairy keratosis hairy leukoplakia oral hairy leukoplakia MONDO:0000744 A bacterial, fungal or parasitic abscess that develops in the lung parenchyma. Causes include aspiration pneumonia, necrotizing pneumonia, necrotizing malignant tumors, and Wegener's granulomatosis. lung abscess (disease) lung abscess lung abscess (disease) lung abscess MONDO:0000745 Cessation of breathing and/or cardiac function. cardiopulmonary arrest circulatory arrest cardiac arrest MONDO:0000748 Inflammation of the mucosal lining of the mastoid antrum and mastoid air cell system of the mastoid process. mastoiditis (disease) inflammation of mastoid process of temporal bone mastoid process of temporal bone inflammation mastoid process of temporal boneitis mastoiditis mastoiditis (disease) mastoiditis MONDO:0000749 A breast disease characterized by a collection of pus in the breast. https://github.com/monarch-initiative/mondo/issues/4592 breast abscess MONDO:0000750 A tooth disease characterized by a localized collection of pus associated with a tooth. dental abscess MONDO:0000751 A polyp that arises from the surface of the cervix. cervical polyp (disease) adenomatous polyp of cervix adenomatous polyp of the cervix adenomatous polyp of the uterine cervix adenomatous polyp of uterine cervix cervical polyp cervical polyp (disease) cervix adenomatous polyp cervix polyp cervix uteri adenomatous polyp cervix uteri polyp polyp of cervix polyp of cervix uteri polyp of the cervix polyp of the cervix uteri polyp of the uterine cervix polyp of uterine cervix uterine cervix adenomatous polyp uterine cervix polyp cervical polyp MONDO:0000754 A pathologic tract that connects an opening in the anal canal to the perianal skin. In the vast majority of cases there is a history of perianal abscess. anal fistula (disease) anal fistula anal fistula (disease) anorectal fistula anal fistula MONDO:0000755 An abnormal pregnancy in which the conception is implanted outside the endometrial cavity. eccyesis extrauterine pregnancy pregnancy, ectopic ectopic pregnancy https://rarediseases.info.nih.gov/diseases/6318/ectopic-pregnancy MONDO:0000756 An embryonal rhabdomyosarcoma located in the parameningeal region. Editor note: check subclasses, does not appear to be complete parameningeal embryonal rhabdomyosarcoma MONDO:0000757 An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption. steroid-induced osteoporosis glucocorticoid-induced osteoporosis MONDO:0000758 A condition that is caused by infection with Bartonella, and which is characterized by vascular proliferation, usually in immunocompromised individuals. Bartonella angiomatosis Bartonella caused angiomatosis bacillary angiomatosis bacillary epithelioid angiomatosis epithelioid angiomatosis angiomatoses, bacillary angiomatoses, bacillary epithelioid angiomatoses, epithelioid angiomatosis, bacillary epithelioid angiomatosis, epithelioid bacillary Angiomatoses bacillary epithelioid Angiomatoses epithelioid Angiomatoses epithelioid Angiomatoses, bacillary epithelioid angiomatosis, bacillary bacillary angiomatosis MONDO:0000761 A chromosomal disorder consisting of the absence of a part of a chromosome. microdeletion syndrome chromosomal deletion syndrome Editor note: this is used in DOID to encompass typically partial deletions syndrome caused by partial chromosomal deletion MONDO:0000762 A chromosomal disorder consisting of the presence of a part of a chromosome in more copies than in a regular genome. microduplication sydrome chromosomal duplication syndrome This term includes partial trisomy (one additional copy of a chromosome part), and partial tetrasomy (2 additional copies of a chromosome part). Editor note: this is used in DOID to encompass typically partial duplications syndrome caused by partial chromosomal duplication MONDO:0000763 epithelial and subepithelial dystrophy epithelial and subepithelial corneal dystrophy MONDO:0000764 Any corneal dystrophy (disease) in which the cause of the disease is a mutation in the TGFBI gene. TGFBI corneal dystrophy (disease) corneal dystrophy (disease) caused by mutation in TGFBI epithelial-stromal TGFBI dystrophy MONDO:0000766 A corneal dystrophy (disease) that involves the corneal epithelium. corneal dystrophy (disease) of corneal epithelium endothelial dystrophy corneal endothelial dystrophy MONDO:0000769 An egg allergy triggered by Gallus gallus eggs. https://github.com/monarch-initiative/mondo/issues/498 2023-04-01 Gallus gallus egg allergy Reason of obsoletion: out of scope - MONDO:excludeAllergy. Term to consider: allergic disease-MONDO:0005271 chicken egg allergy MONDO:0000770 Allergic reaction to shellfish or shellfish products. shellfish allergy MONDO:0000771 A respiratory system disease with a basis in a pathological type I hypersensitivity reaction. airway allergy allergic form of respiratory system disease allergic respiratory system disease respiratory allergy allergic respiratory disease MONDO:0000774 An autoimmune form of peripheral neuropathy. autoimmune peripheral neuropathy Editor note: We do not draw a distinction between between neuropathy and peripheral neuropathy see https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/20 autoimmune neuropathy MONDO:0000775 Immunologically mediated adverse reactions to medicinal substances used legally or illegally. allergy of exposure to drug exposure to drug allergic disease drug allergy MONDO:0000777 A allergic disease that involves the digestive tract. allergic disease of digestive tract digestive tract allergic disease gastrointestinal allergy MONDO:0000778 A food allergy triggered by a plant fruit product. https://github.com/monarch-initiative/mondo/issues/498 2023-04-01 Reason of obsoletion: out of scope - MONDO:excludeAllergy. Term to consider: allergic disease-MONDO:0005271 fruit allergy MONDO:0000781 A fruit allergy triggered by Prunus avium plant fruit food product. https://github.com/monarch-initiative/mondo/issues/498 2023-04-01 Prunus avium fruit allergy Reason of obsoletion: out of scope - MONDO:excludeAllergy. Term to consider: allergic disease-MONDO:0005271 cherry allergy MONDO:0000782 A fruit allergy triggered by Ziziphus mauritiana plant fruit food product. https://github.com/monarch-initiative/mondo/issues/498 2023-04-01 Ziziphus mauritiana fruit allergy Reason of obsoletion: out of scope - MONDO:excludeAllergy. Term to consider: allergic disease-MONDO:0005271 Indian plum allergy MONDO:0000783 A fruit allergy triggered by Citrus sinensis plant fruit food product. https://github.com/monarch-initiative/mondo/issues/498 2023-04-01 Citrus sinensis fruit allergy orange allergy Reason of obsoletion: out of scope - MONDO:excludeAllergy. Term to consider: allergic disease-MONDO:0005271 orange allergy MONDO:0000784 A fruit allergy triggered by Cucumis melo plant fruit food product. https://github.com/monarch-initiative/mondo/issues/498 2023-04-01 Cucumis melo fruit allergy Reason of obsoletion: out of scope - MONDO:excludeAllergy. Term to consider: allergic disease-MONDO:0005271 melon allergy MONDO:0000807 Allergic reaction to products containing processed natural rubber latex such as rubber gloves, condoms, catheters, dental dams, balloons, and sporting equipment. Both T-cell mediated (hypersensitivity, delayed) and IgE antibody-mediated (hypersensitivity, immediate) allergic responses are possible. Delayed hypersensitivity results from exposure to antioxidants present in the rubber; immediate hypersensitivity results from exposure to a latex protein. Editor note: TODO request latex allergy MONDO:0000809 A severe, rapidly fatal reaction occurring most commonly in children following an infectious illness. It is characterized by large, rapidly spreading skin hemorrhages, fever, or shock. Purpura fulminans often accompanies or is triggered by disseminated intravascular coagulation. purpura gangrenosa fibrinolytic purpura purpura fulminans MONDO:0000811 A congenital coronary vessel anomaly in which the left main coronary artery originates from the pulmonary artery instead of from aorta. The congenital heart defect typically results in coronary artery fistula; left-sided heart failure and mitral valve insufficiency during the first months of life. ALCAPA ALCAPA disorder BWGS Bland-White-Garland syndrome White-Garland syndrome anomalous left coronary artery from the pulmonary artery MONDO:0000812 A disease involving the vertebral column. disease of spine disease of vertebral column disease or disorder of vertebral column disorder of vertebral column vertebral column disease vertebral column disease or disorder spinal disease vertebral column disorder MONDO:0000813 Pathological conditions of the cardiovascular system caused by infection of mycobacterium tuberculosis. Tuberculosis involvement may include the heart; the blood vessels; or the pericardium. https://github.com/monarch-initiative/mondo/issues/4143 cardiovascular tuberculosis cardiac tuberculosis MONDO:0000814 An acute B-lymphoblastic leukemia occurring in adults. B acute lymphoblastic leukemia B cell adult ALL B cell adult acute lymphoblastic leukemia B cell adult acute lymphocytic leukemia B-cell adult ALL B-cell adult acute lymphoblastic leukemia B-cell childhood acute lymphoblastic leukemia of adults adult B acute lymphoblastic leukemia adult B cell ALL adult B cell acute lymphoblastic leukemia adult B cell acute lymphocytic leukemia adult B-cell ALL adult B-cell acute lymphoblastic leukemia adult B-cell acute lymphocytic leukemia adult B-cell childhood acute lymphoblastic leukemia adult B-cell lymphocytic leukemia adult B-lymphoblastic leukemia adult precursor B-lymphoblastic leukemia B-cell adult acute lymphocytic leukemia MONDO:0000815 A specific developmental disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of nicotine during pregnancy. fetal nicotine spectrum disorder MONDO:0000816 https://github.com/monarch-initiative/mondo/issues/4425 metabolic syndrome metabolic syndrome X abdominal obesity-metabolic syndrome MONDO:0000819 A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus. anencephalus anencephaly MONDO:0000820 A disorder characterized by malformations in the structure of the capillaries in the brain. It is caused by mutations in the CCM2, KRIT1 and PDCD10 genes. The capillaries fill with blood and stretch, thereby creating cavernous spaces. Some patients experience headaches, seizures, or visual and hearing disturbances. Cerebral hemorrhage may also occur. CCM brain cavernous hemangioma cavernous angiomatous malformations cerebral capillary malformations cerebral cavernous malformation familial cavernous angioma cerebral cavernous malformation MONDO:0000824 https://github.com/monarch-initiative/mondo/issues/4069 diarrhea, congenital congenital diarrhea MONDO:0000827 Infections with bacteria of the genus salmonella. https://github.com/monarch-initiative/mondo/issues/254 Salmonella infection rare form of salmonellosis infections, Salmonella salmonellosis MONDO:0000828 juvenile-onset Parkinson's disease Editor notes: check onset axioms juvenile-onset Parkinson disease MONDO:0000831 The formation of a blood clot in the lumen of a vessel or heart chamber; causes include coagulation disorders and vascular endothelial injury. Clots, blood Thromboses blood Clots blood clot clot, blood thrombosis thrombotic disorder thrombus thrombotic disease MONDO:0000833 A bone disease that results in formation or resorption abnormalities located in bone. bone remodeling disease MONDO:0000836 bone structure disease disease of bone structure MONDO:0000837 A disease that has its basis in the disruption of bone resorption. Bone resorption is a process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products. bone resorption disease MONDO:0000840 A form of avascular necrosis where there is death of a portion of the bone that is thought to be caused by nitrogen embolism. DON caisson disease of bone dysbaric osteonecrosis MONDO:0000845 A genetic, non-inheritable disorder caused by osteoblastic differentiation defects that result in the replacement of bone marrow and trabecular bone by fibrous stroma and immature bone. It usually affects a single bone and less frequently multiple bones. Skull, femur, tibia, and humerus are the most frequently affected bones. It manifests with pain, deformities, and fractures. fibrous dysplasia of bone fibrous dysplasia MONDO:0000849 A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures. baker's disease fibrogenesis imperfecta ossium MONDO:0000858 neuronal intestinal dysplasia MONDO:0000859 The mildest form of spina bifida, characterized by any of several neural tube defects which may go undetected until an x-ray is performed. Treatment is symptomatic. spina bifida occulta (disease) spina bifida occulta spina bifida occulta (disease) spina bifida occulta MONDO:0000863 Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy. MLASA MSA mitochondrial myopathy and sideroblastic anemia myopathy, lactic acidosis and sideroblastic anemia myopathy, lactic acidosis, and siderblastic anemia myopathy with lactic acidosis and sideroblastic anemia sideroblastic anemia and mitochondrial myopathy myopathy, lactic acidosis, and sideroblastic anemia MONDO:0000866 myoglobinurias TODO: cede to HPO myoglobinuria MONDO:0000870 An acute lymphoblastic leukemia occurring during childhood. The majority of cases are B-acute lymphoblastic leukemias. Approximately 15% of the cases are T-acute lymphoblastic leukemias. acute lymphoblastic leukemia (ALL) childhood ALL childhood acute lymphoblastic leukemia childhood acute lymphocytic leukemia childhood acute lymphogenous leukemia childhood acute lymphoid leukemia childhood precursor lymphoblastic leukemia pediatric ALL pediatric acute lymphoblastic leukemia pediatric acute lymphocytic leukemia pediatric acute lymphocytic leukemia (ALL) pediatric acute lymphogenous leukemia pediatric acute lymphoid leukemia childhood acute lymphoblastic leukemia https://rarediseases.info.nih.gov/diseases/9240/childhood-acute-lymphoblastic-leukemia MONDO:0000871 An acute lymphoblastic leukemia of T-cell origin occurring in children. T acute lymphoblastic leukemia T-cell childhood ALL T-cell childhood acute lymphoblastic leukemia T-cell childhood acute lymphocytic leukemia T-cell pediatric ALL T-cell pediatric acute lymphoblastic leukemia T-cell pediatric acute lymphocytic leukemia childhood T acute lymphoblastic leukemia childhood T-ALL childhood T-cell acute lymphoblastic leukemia childhood precursor T-lymphoblastic leukemia T-cell childhood acute lymphocytic leukemia MONDO:0000872 An acute B-lymphoblastic leukemia occurring in children. B acute lymphoblastic leukemia B cell childhood ALL B cell childhood acute lymphoblastic leukemia B cell childhood acute lymphocytic leukemia B cell pediatric ALL B cell pediatric acute lymphoblastic leukemia B cell pediatric acute lymphocytic leukemia B-cell childhood ALL B-cell childhood acute lymphocytic leukemia B-cell childhood acute lymphogenous leukemia B-cell childhood acute lymphoid leukemia B-cell pediatric ALL B-cell pediatric acute lymphoblastic leukemia B-cell pediatric acute lymphocytic leukemia B-cell pediatric acute lymphogenous leukemia B-cell pediatric acute lymphoid leukemia childhood B acute lymphoblastic leukemia childhood B-ALL childhood precursor B-lymphoblastic leukemia B-cell childhood acute lymphoblastic leukemia MONDO:0000873 A lymphoma composed of immature small to medium-sized precursor lymphoid cells (lymphoblasts). It includes the B- and T-cell lymphoblastic lymphoma. lymphoblastic lymphoma lymphoma, lymphoblastic, malignant precursor cell lymphoblastic lymphoma precursor lymphoblastic lymphoma lymphoma, lymphoblastic lymphoblastic lymphoma https://rarediseases.info.nih.gov/diseases/3329/lymphoblastic-lymphoma MONDO:0000874 A T lymphoblastic lymphoma that occurs during childhood. T lymphoblastic lymphoma childhood T lymphoblastic lymphoma childhood precursor T-lymphoblastic lymphoma T-cell childhood lymphoblastic lymphoma MONDO:0000875 A acute monocytic leukemia that occurs in an adult. acute monocytic leukemia M5b adult acute differentiated monocytic leukemia M5b adult acute leukemia acute monocytic leukemia of adults adult acute differentiated monocytic leukemia (M5b) adult acute monocytic leukemia adult acute monocytic leukemia MONDO:0000878 Infection of the retina by cytomegalovirus characterized by retinal necrosis, hemorrhage, vessel sheathing, and retinal edema. Cytomegalovirus retinitis is a major opportunistic infection in aids patients and can cause blindness. CMV retinitis Cytomegaloviral Retinitis Cytomegalovirus caused retinitis Cytomegalovirus retinitis Retinitis, Cytomegaloviral cytomegalovirus retinitis cytomegalovirus retinitis https://rarediseases.info.nih.gov/diseases/9531/cytomegalovirus-retinitis MONDO:0000879 Candidiasis of the skin manifested as eczema-like lesions of the interdigital spaces, perleche, or chronic paronychia. (Dorland, 27th ed) zone of skin candidiasis cutaneous candidiasis MONDO:0000884 Editor note: check relation to MONDO:0007844 myeloid and lymphoid neoplasms associated with FGFR1 abnormalities MONDO:0000888 Inflammation of the mucous membranes lining the gastrointestinal tract. https://github.com/monarch-initiative/mondo/issues/5537 gastrointestinal system mucosa inflammation gastrointestinal system mucosaitis inflammation of gastrointestinal system mucosa mucositis gastrointestinal mucositis MONDO:0000889 Infections of the nervous system caused by bacteria of the genus haemophilus, and marked by prominent inflammation of the meninges. haemophilus influenzae type B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults. Haemophilus influenzae bacterial meningitis Haemophilus influenzae caused bacterial meningitis haemophilus meningitis MONDO:0000890 A congenital birth syndrome that arises from materal Zika infection. ZIKV congenital infection congenital Zika syndrome congenital Zika virus infection Zika virus congenital syndrome MONDO:0000891 A fibrolamellar carcinoma that is characterized by the presence of both pure fibrolamellar hepatocellular carcinoma and and conventional hepatocellular carcinoma components. mixed fibrolamellar hepatocellular carcinoma MONDO:0000892 A rare, invasive colon adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis. colon medullary carcinoma medullary carcinoma of the colon medullary colon carcinoma colon medullary carcinoma MONDO:0000893 A rare morphologic variant of bronchiolo-alveolar lung carcinoma characterized by the presence of both mucin and non-mucin producing cells. indeterminate bronchioloalveolar carcinoma mixed mucinous and non-mucinous bronchioloalveolar adenocarcinoma mixed mucinous and non-mucinous bronchioloalveolar carcinoma mixed mucinous and non-mucinous bronchioloalveolar lung carcinoma mixed mucinous and non-mucinous bronchoalveolar lung carcinoma mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma MONDO:0000894 A bronchiolo-alveolar adenocarcinoma that is characterized by a tumour cells containing abundant mucin in their cytoplasm and composed of tall columnar cells growing along alveolar walls without stromal invasion. mucinous bronchioloalveolar adenocarcinoma MONDO:0000895 A bronchiolo-alveolar adenocarcinoma that is characterized by cells with cuboidal or columnar morphology with eosinophilic or clear cytoplasm and shows Clara cell or type 2 pneumocyte differentiation. nonmucinous bronchioloalveolar adenocarcinoma MONDO:0000898 A malignant form of hemangioma. hemangioma, malignant Editor note: hemangiomas currently classified as benign. Consider obsoleting these malignant hemangioma MONDO:0000901 A diffuse large B-cell lymphoma characterized by less than 50 percent decrease in lesion size with induction therapy or the appearance of new lesions or the appearance of new lesions after attainment of complete remission. relapsed/refractory diffuse large B-cell lymphoma MONDO:0000902 Corpus callosum agenesis-neuropathy is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and "autistic-like" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait. Andermann syndrome Charlevoix disease agenesis of the corpus callosum with peripheral neuropathy corpus callosum agenesis-neuronopathy syndrome hereditary motor and sensory neuropathy with agenesis of the corpus callosum peripheral neuropathy associated with agenesis of the corpus callosum ACCPN HMSN/ACC agenesis of corpus callosum with neuronopathy agenesis of corpus callosum with peripheral neuropathy agenesis of corpus callosum with polyneuropathy corpus callosum agenesis neuronopathy corpus callosum, agenesis of, with neuronopathy polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum agenesis of the corpus callosum with peripheral neuropathy MONDO:0000903 Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks. DYT-SGCE dystonia with myoclonus hereditary essential myoclonus myoclonic dystonia myoclonus-dystonia syndrome DYT11 Hereditary essential myoclonus alcohol-responsive dystonia dystonia 11 dystonia 11, myoclonic dystonia, alcohol responsive dystonia, alcohol-responsive dystonia-11, myoclonic myoclonus, hereditary essential myoclonus-Dystonia myoclonus-dystonia myoclonus-dystonia syndrome MONDO:0000904 CDCBM complex cortical dysplasia with other brain malformations cortical dysplasia, complex, with other brain malformations complex cortical dysplasia with other brain malformations MONDO:0000908 Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the CTNNA3 gene. ARVC13 ARVD13 CTNNA3 arrhythmogenic right ventricular cardiomyopathy arrhythmogenic right ventricular cardiomyopathy 13 arrhythmogenic right ventricular cardiomyopathy caused by mutation in CTNNA3 arrhythmogenic right ventricular dysplasia type 13 arrhythmogenic right ventricular dysplasia, familial, 13 arrhythmogenic right ventricular dysplasia, familial, type 13 familial arrhythmogenic right ventricular dysplasia 13 arrhythmogenic right ventricular dysplasia 13 MONDO:0000909 A Bartter disease that has material basis in simultaneous mutation in both the CLCNKA and CLCNKB genes. BARTS4B Bartter disease type 4B Bartter syndrome, type 4B Bartter syndrome, type 4b, digenic neonatal Bartter syndrome type 4B with sensorineural deafness Bartter syndrome, infantile, with sensorineural deafness Bartter syndrome, type 4B, neonatal, with sensorineural deafness Bartter disease type 4B MONDO:0000910 A retinitis pigmentosa that has material basis in variation in the chromosome region Xp21.3-p21.2. RP6 retinitis pigmentosa 6 retinitis pigmentosa type 6 RP 6 retinitis pigmentosa, X-linked recessive, 6 retinitis pigmentosa 6 https://rarediseases.info.nih.gov/diseases/10377/retinitis-pigmentosa-6 MONDO:0000912 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 14q12. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB5 autosomal recessive deafness 5 autosomal recessive nonsyndromic deafness 5 autosomal recessive nonsyndromic deafness type 5 deafness, autosomal recessive 5 neurosensory nonsyndromic recessive deafness 5 autosomal recessive nonsyndromic hearing loss 5 MONDO:0000913 Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTB gene. HS2 SPH2 SPTB hereditary spherocytosis hereditary spherocytosis 2 hereditary spherocytosis caused by mutation in SPTB hereditary spherocytosis type 2 spherocytosis, type 2 spherocytosis, hereditary, 2 hereditary spherocytosis type 2 MONDO:0000914 A CADASIL characterized by migraine, strokes, and white matter lesions that has material basis in heterozygous mutation in the NOTCH3 gene on chromosome 19p13. https://github.com/monarch-initiative/mondo/issues/4521 cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy CADASIL 1 CADASIL syndrome CADASIL type 1 CADASIL1 autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 dementia, hereditary multi-infarct type hereditary multi-infarct dementia CADASIL CASIL cerebral arteriopathy with subcortical infarcts and leukoencephalopathy familial vascular leukoencephalopathy cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 MONDO:0000916 An infectious disease involving a pathogenic inflammatory response in the intestinal mucosa. bacterial enteritis intestinal infectious disease MONDO:0000918 An acute or chronic, usually bacterial infectious process affecting the endometrium. It may extend to the myometrium and parametrial tissues. Symptoms include lower abdominal pain, vaginal discharge, and vaginal bleeding. endometrium inflammation inflammation of endometrium uterine infection endometritis MONDO:0000919 A primary or metastatic malignant neoplasm involving the ampulla of Vater. cancer of hepatopancreatic ampulla hepatopancreatic ampulla cancer malignant ampulla of Vater neoplasm malignant ampulla of Vater tumor malignant hepatopancreatic ampulla neoplasm malignant neoplasm of ampulla of Vater malignant neoplasm of hepatopancreatic ampulla malignant neoplasm of the ampulla of Vater malignant tumor of ampulla of Vater malignant tumor of the ampulla of Vater malignant tumour of ampulla of vater ampulla of vater cancer MONDO:0000920 A primary or metastatic malignant neoplasm that affects the duodenum. Representative examples include carcinoma, lymphoma, and sarcoma. cancer of duodenum duodenal cancer duodenum cancer malignant duodenal neoplasm malignant duodenal tumor malignant duodenum neoplasm malignant neoplasm of duodenum malignant neoplasm of the duodenum malignant tumor of duodenum malignant tumor of the duodenum duodenum cancer MONDO:0000921 A benign or malignant neoplasm involving the ampulla of Vater. ampulla of Vater tumor hepatopancreatic ampulla neoplasm hepatopancreatic ampulla neoplasm (disease) hepatopancreatic ampulla tumor neoplasm of ampulla of Vater neoplasm of hepatopancreatic ampulla neoplasm of the ampulla of Vater tumor of ampulla of Vater tumor of hepatopancreatic ampulla tumor of the ampulla of Vater AMPULLAOFVATER ampulla of vater neoplasm MONDO:0000922 Pelvic inflammatory disease (PID) is an acute or chronic inflammation in the pelvic cavity. It is most commonly caused by sexually transmitted diseases, including chlamydia and gonorrhea that have ascended into the uterus, fallopian tubes, or ovaries as a result of intercourse or childbirth, or of surgical procedures, including insertion of IUDs or abortion. PID may be either symptomatic or asymptomatic. It may cause infertility and it may raise the risk of ectopic pregnancy. PID is a disease associated with HIV infection. PID pelvic inflammatory disease PID, pelvic inflammatory disease disease (PID), pelvic inflammatory inflammatory disease (PID), pelvic pelvic infection pelvic inflammatory disease, (PID) pelvic inflammatory disease MONDO:0000923 Pathologic accumulation of air in the interstitium of the lungs, which is caused by the rupture of alveoli and terminal bronchioles, and is most often seen in premature infants that need mechanical ventilation for respiratory distress syndrome. interstitial emphysema of lung pie pulmonary interstitial emphysema interstitial emphysema MONDO:0000924 compensatory emphysema MONDO:0000925 A lung with reduced markings on its chest radiograph and increased areas of transradiancy (hyperlucency). A hyperlucent lung is usually associated with pulmonary emphysema or pneumothorax. hyperlucent lung MONDO:0000926 Disease that disrupts the process by which the vertebrate eye changes optical power to maintain a clear image or focus on an object as its distance varies. disorder of accommodation eye accommodation disease MONDO:0000927 asymptomatic neurosyphilis MONDO:0000928 A melanoma that arises from the upper or lower eyelid. eyelid melanoma eyelid melanoma (disease) malignant eyelid melanoma malignant melanoma of eyelid malignant melanoma of the eyelid melanoma (disease) of eyelid melanoma of eyelid melanoma of the eyelid eyelid melanoma MONDO:0000929 A rare variant of melanoma with a vertical growth phase. It presents as a nodular or polypoid skin lesion. It is characterized by the presence of nodules which contain large melanoma cells with clear, foamy or finely vacuolated cytoplasm. The prognosis is similar to that of other melanomas matched for depth of invasion. balloon cell cutaneous (skin) melanoma balloon cell malignant melanoma of skin balloon cell malignant melanoma of the skin balloon cell malignant skin melanoma balloon cell melanoma balloon cell skin melanoma balloon cell malignant melanoma MONDO:0000930 An aggressive form of melanoma, frequently metastasizing to the lymph nodes. It presents as a papular or nodular raised skin lesion. It comprises approximately 10-15% of melanomas. Morphologically, it often displays an epithelioid appearance. nodular cutaneous (skin) melanoma nodular malignant melanoma of skin nodular malignant melanoma of the skin nodular malignant skin melanoma nodular melanoma nodular melanoma (morphologic abnormality) nodular malignant melanoma MONDO:0000931 A non-neoplastic or neoplastic disorder that affects the endometrium. Representative examples include endometritis, endometrial hyperplasia, and endometrial carcinoma. disease of endometrium disease or disorder of endometrium disorder of endometrium endometrial disorder endometrium disease endometrium disease or disorder endometrial disorder MONDO:0000933 A benign or malignant neoplasm that affects the subglottic area of the larynx. neoplasm of subglottis neoplasm of the subglottis subglottic neoplasm subglottic tumor subglottis neoplasm subglottis neoplasm (disease) subglottis tumor tumor of subglottis tumor of the subglottis subglottis neoplasm MONDO:0000934 A benign smooth muscle neoplasm arising from the larynx. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. laryngeal leiomyoma larynx leiomyoma leiomyoma of larynx leiomyoma of the larynx laryngeal leiomyoma MONDO:0000935 A benign exophytic neoplasm that arises from the larynx, usually the true vocal cords. It is related to human papillomavirus infection and may arise as a single or multiple lesions. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium. Hoarseness is the presenting symptom. Transformation to carcinoma is rare. laryngeal papilloma larynx papilloma larynx squamous papilloma papilloma of larynx papilloma of the larynx squamous papilloma of larynx squamous papilloma of the larynx larynx squamous papilloma MONDO:0000936 An infectious meningitis caused by infection with Treponema. Treponema caused infectious meningitis Treponema infectious meningitis meningeal syphilis meningitis, syphilitic syphilitic aseptic meningitis syphilitic meningitis MONDO:0000937 An encephalitis caused by infection with Treponema. Treponema caused encephalitis Treponema encephalitis syphilitic encephalitis MONDO:0000938 A rare benign smooth muscle neoplasm arising from the wall of the stomach. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. Unlike gastrointestinal stromal tumors, gastric leiomyomas are by definition negative for CD34 and CD117 (C-KIT). gastric leiomyoma leiomyoma of stomach leiomyoma of the stomach stomach leiomyoma gastric leiomyoma MONDO:0000939 An abscess that is located in the intracranial space. intracranial abscess MONDO:0000940 Infection with protozoa of the genus trypanosoma. Trypanosoma caused disease or disorder Trypanosoma disease or disorder Trypanosoma infectious disease Trypanosomiases trypanosomiasis MONDO:0000941 A neurodegenerative disease that involves the eyelid. eyelid neurodegenerative disease neurodegenerative disease of eyelid eyelid degenerative disorder MONDO:0000942 A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma. cornea disease cornea disease or disorder corneal disease corneal disorder disease of cornea disease or disorder of cornea disorder of cornea corneal disorder MONDO:0000943 keratoconus, acute hydrops acute corneal hydrops acute hydrops of cornea acute hydrops keratoconus MONDO:0000944 cerebral artery occlusion MONDO:0000945 Impaired venous blood flow or venous return (venous stasis), usually caused by inadequate venous valves. Venous insufficiency often occurs in the legs, and is associated with edema and sometimes with venous stasis ulcers at the ankle. venous insufficiency (disease) venous insufficiency venous insufficiency (disease) peripheral venous insufficiency venous insufficiency MONDO:0000946 Involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause. functional vaginismus non-organic vaginismus psychogenic vaginismus psychologic vaginismus MONDO:0000947 non-organic sexual dysfunction psychosexual disorder MONDO:0000948 Dryness of the eye due to inadequate production of tears. Causes include vitamin A deficiency, Sjogren syndrome, rheumatoid arthritis, systemic lupus erythematosus, and scleroderma. conjunctival xerosis xerophthalmia MONDO:0000949 conjunctival degeneration MONDO:0000950 Term generally used to describe complaints related to refractive error, ocular muscle imbalance, including pain or aching around the eyes, burning and itchiness of the eyelids, ocular fatigue, and headaches. accommodative strain asthenopia MONDO:0000951 A lymphoma that arises from the thymus. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma. Thymus lymphoma lymphoma of Thymus lymphoma of the Thymus lymphoma of thymus primary thymic lymphoma thymic lymphoma thymus lymphoma thymus lymphoma MONDO:0000952 A cancer that involves the hindlimb long bone. cancer of hindlimb long bone hindlimb long bone cancer malignant hindlimb long bone neoplasm malignant neoplasm of hindlimb long bone malignant neoplasm of long bones of leg long bones of lower limb cancer cancer of long bone of lower limb MONDO:0000953 malignant neoplasm of short bone of lower limb malignant neoplasm of short bones of leg cancer of short bone of lower limb MONDO:0000954 A cancer involving a Meckel's diverticulum. Meckel diverticulum cancer Meckel's diverticulum cancer cancer of Meckel's diverticulum malignant Meckel's diverticulum neoplasm malignant neoplasm of Meckel's diverticulum Meckel diverticulum cancer MONDO:0000955 A malignant neoplasm involving the ileum cancer of ileum ileum cancer malignant ileum neoplasm malignant neoplasm of ileum ileum cancer MONDO:0000956 A primary or metastatic malignant neoplasm involving the small intestine. cancer of small intestine malignant neoplasm of small bowel malignant neoplasm of small intestine malignant neoplasm of the small bowel malignant neoplasm of the small intestine malignant small bowel neoplasm malignant small bowel tumor malignant small intestinal neoplasm malignant small intestine neoplasm malignant small intestine tumor malignant tumor of small bowel malignant tumor of small intestine malignant tumor of the small bowel malignant tumor of the small intestine small intestine cancer malignant neoplasms of the small intestine small bowel tumors small intestine cancer https://rarediseases.info.nih.gov/diseases/9385/small-intestine-cancer MONDO:0000957 granuloma of lacrimal passages lacrimal passage granuloma MONDO:0000958 Neuroretinitis is an inflammation of the neural retina and optic nerve. Pathology: Direct invasion or autoimmune activation against the optic nerve may cause optic nerve vascular inflammation with secondary inflammation and edema in the nerve fiber layer of the retina. Juxtapapillary focal retinitis and retinochoroiditis focal retinitis and retinochoroiditis, juxtapapillary papilloretinitis neuroretinitis MONDO:0000959 malignant hypertensive renal disease MONDO:0000960 Diabetic angiopathy is a form of angiopathy associated with diabetic complications. diabetic angiopathy diabetic vascular disorder diabetic peripheral angiopathy MONDO:0000961 A rare benign adipose tissue neoplasm located within the lumen of a bronchus. It is predominantly found in males and usually originates within the fatty tissue between bronchial cartilage. May cause irreversible pulmonary damage distally. Two-thirds of the tumors occur on the right side and most are located on the first three subdivisions of the tracheobronchial tree. endobronchial lipoma Editor note: TODO check with NCIT why this is classified as lung endobronchial lipoma MONDO:0000962 A benign circumscribed tumor composed of spindled cells, adipocytes, and collagen bundles. There is no evidence of nuclear hyperchromasia or mitotic activity. spindle cell lipoma spindle cell lipoma (morphologic abnormality) spindle cell lipoma MONDO:0000963 A benign adipose tissue neoplasm of the esophagus. Clinical presentation includes obstruction, dysphagia, regurgitation, vomiting and reflux. It may be associated with aspiration and consecutive respiratory infections. esophageal lipoma esophagus lipoma lipoma of esophagus lipoma of the esophagus esophageal lipoma MONDO:0000964 A benign or malignant adipose tissue neoplasm of the skin. cutaneous lipoma cutaneous lipomatous tumor lipoma of skin lipoma of the skin lipoma of zone of skin skin lipoma zone of skin lipoma lipoma of face skin lipoma MONDO:0000965 A rare benign adipose tissue neoplasm of the liver. hepatic lipoma lipoma of liver lipoma of the liver liver lipoma liver lipoma MONDO:0000966 A benign circumscribed tumor characterized by small spindle cells, rounded hyperchromatic cells and multinucleated giant cells with radially arranged nuclei. pleomorphic lipoma pleomorphic lipoma (morphologic abnormality) pleomorphic lipoma MONDO:0000967 A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within subcutaneous tissue, deep soft tissues or on the surface of bones. classic type lipoma conventional lipoma conventional lipoma MONDO:0000968 A rare benign adipose tissue neoplasm of the kidney. It predominantly affects middle-aged females. It may originate from renal parenchymal fat or fat cells within the renal capsule. Clinical presentation includes hematuria and pain. kidney lipoma lipoma of kidney lipoma of the kidney renal lipoma kidney lipoma MONDO:0000969 A benign adipose tissue neoplasm of the pleural cavity. It may be purely intra-thoracic or extend to the chest wall. lipoma of pleura lipoma of the pleura pleura lipoma pleural lipoma pleural lipoma MONDO:0000970 A benign, mesenchymal neoplasm that arises from the breast. It is surrounded by a thin capsule and composed of mature adipose tissue cells. Atypia is absent. breast lipoma lipoma of breast lipoma of the breast breast lipoma MONDO:0000971 A benign adipose tissue neoplasm of the chest wall. chest wall lipoma lipoma of chest wall lipoma of the chest wall chest wall lipoma MONDO:0000972 A benign adipose tissue neoplasm involving the gallbladder wall. gall bladder lipoma gallbladder lipoma lipoma of gall bladder lipoma of gallbladder lipoma of the gallbladder gallbladder lipoma MONDO:0000973 A benign adipose tissue neoplasm of the external ear. external Ear lipoma external auditory meatus lipoma external ear lipoma lipoma of external Ear lipoma of external auditory meatus lipoma of external ear lipoma of the external Ear lipoma of the external auditory meatus lipoma of the external ear external ear lipoma MONDO:0000974 A benign adipose tissue neoplasm of the axilla. axilla lipoma axillary lipoma lipoma of axilla axillary lipoma MONDO:0000975 A benign adipose tissue neoplasm of the spermatic cord. This is the most common tumor amongst the benign paratesticular lesions. lipoma of spermatic cord lipoma of the spermatic cord spermatic cord lipoma lipoma of spermatic cord MONDO:0000976 A rare benign adipose tissue neoplasm of the paratesticular tissues. It is incidentally discovered and presents as a non-tender scrotal mass. It affects patients over a wide age range. paratesticular lipoma paratesticular lipoma MONDO:0000977 A rare benign adipose tissue neoplasm characterized by nests and cord of abundant univacuolated and multivacuolated lipoblasts and mature adipocytes in a prominent myxoid to hyalinized chondroid matrix admix. It predominantly affects females. chondroid lipoma MONDO:0000978 A rare benign adipose tissue neoplasm of the extrahepatic bile duct. extrahepatic bile duct lipoma lipoma of extrahepatic bile duct lipoma of the extrahepatic bile duct extrahepatic bile duct lipoma MONDO:0000979 An endemic bacterial infection caused by Treponema carateum. It is manifested with chronic cutaneous lesions. The early lesions consist of papules and erythematous plaques. The late lesions consist of hypochromic, achromic, hyperpigmented and atrophic lesions. The late skin lesions may cause destruction of bones and cartilage and produce disfiguring changes. pinta Azul Carate Empeines Lota Mal del pinto Tina endemic treponematosis caused by Treponema carateum infection by Treponema carateum NCBI Taxonomy appears to lack an entry for T carateum pinta disease MONDO:0000980 A atherosclerosis that involves the aorta. aortic atherosclerosis (disease) aorta atherosclerosis aortic atherosclerosis aortic atherosclerosis (disease) atherosclerosis of aorta aortic atherosclerosis MONDO:0000981 An pericarditis (disease) caused by infection with Histoplasma. Histoplasma caused pericarditis (disease) Histoplasma pericarditis (disease) histoplasmosis pericarditis histoplasmosis with pericarditis acute Histoplasma pericarditis Histoplasma pericarditis MONDO:0000983 A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the exposure of one's genitals to an unsuspecting stranger. exhibitionism MONDO:0000984 An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation. sickle-cell thalassemia with crisis sickle-cell thalassemia without crisis thalassemia Hb-S disease with crisis thalassemia Hb-S disease without crisis thalassemia MONDO:0000986 Inflammation of the pleura. It is usually caused by infections. Chest pain while breathing or coughing is the presenting symptom. inflammation of pleura pleura inflammation pleuritis pleurisy MONDO:0000987 A disorder characterized by a change in the gallbladder wall due to excess cholesterol. strawberry gallbladder cholesterolosis of gallbladder MONDO:0000988 Discharge or drainage of fluid from the ear. discharging ear MONDO:0000989 A contagious viral infection caused by the mumps virus. Symptoms include swollen and tender parotid glands, fever, muscle aches and fatigue. Due to vaccination programs, mumps has become a rare disease. Mumps virus caused disease or disorder Mumps virus disease or disorder Mumps virus infectious disease epidemic parotitis mumps mumps virus infectious disease mumps infectious disease https://rarediseases.info.nih.gov/diseases/7116/mumps MONDO:0000990 Acute form of subendocardial myocardial infarction. acute subendocardial infarction subendocardial myocardial infarction, acute acute nontransmural infarction subendocardial infarction acute myocardial infarction acute subendocardial myocardial infarction MONDO:0000992 A disease that has its basis in the disruption of the heart's electrical conduction system. cardiac conduction disease cardiac conduction disorder conduction disease of heart disease of cardiac conduction disorder of cardiac conduction heart rhythm disease heart conduction disease MONDO:0000993 An invasive prostate carcinoma characterized by the presence of squamous differentiation of the malignant cellular infiltrate. There is no evidence of glandular differentiation. prostate gland squamous cell carcinoma prostate squamous cell carcinoma squamous cell carcinoma of prostate squamous cell carcinoma of the prostate PRSC prostate squamous cell carcinoma MONDO:0000994 An unusual malignant tumor that arises from the prostate gland. It is characterized by the presence of glandular elements and a cellular stroma that exhibits mitotic activity and nuclear atypia. malignant phyllodes neoplasm of prostate malignant phyllodes neoplasm of the prostate malignant phyllodes tumor of prostate malignant phyllodes tumor of the prostate malignant prostate phyllodes neoplasm malignant prostate phyllodes tumor prostate malignant phyllodes tumor malignant prostate phyllodes tumor MONDO:0000995 A group of genetic neurological disorders caused by mutations in genes involved in the sodium and calcium channels in nerve cells. It is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally. familial periodic paralysis hereditary periodic paralysis (disease) familial periodic paralyses genetic periodic paralysis normokalemic periodic paralyses normokalemic periodic paralysis paralyses, normokalemic periodic paralysis, familial periodic paralysis, normokalemic periodic periodic paralyses, familial periodic paralyses, normokalemic periodic paralysis, familial periodic paralysis, normokalemic familial periodic paralysis https://rarediseases.info.nih.gov/diseases/6422/familial-periodic-paralysis MONDO:0000996 A rare non-Hodgkin or Hodgkin lymphoma that arises from the prostate gland. lymphoma of prostate lymphoma of prostate gland lymphoma of the prostate primary prostate lymphoma prostate gland lymphoma prostate lymphoma prostate lymphoma MONDO:0000997 A form of ocular misalignment characterized by an excessive convergence of the visual axes, resulting in a 'cross-eye' appearance. An example of this condition occurs when paralysis of the lateral rectus muscle causes an abnormal inward deviation of one eye on attempted gaze. monocular esotropia MONDO:0001000 Pneumoconiosis caused by the inhalation of mixed mineral dust particles. mineral duct pneumoconiosis mineral dust pneumoconiosis mixed mineral dust pneumoconiosis pneumoconiosis from mineral dust mixed mineral dust pneumoconiosis MONDO:0001001 A rare type of pneumoconiosis caused by long standing exposure to barium dust. It is characterized by the formation of fine dense lesions in the lung parenchyma. The lesions do not affect the lung function and disappear without treatment after the exposure to barium dust stops. deposition of barium in the lungs inhalation of barytes baritosis https://rarediseases.info.nih.gov/diseases/8371/baritosis MONDO:0001003 Pneumoconiosis caused by exposure to talc. It is characterized by fibrosis and granulomatous changes in the lung parenchyma. Chest x-rays reveal diffuse lung opacities and pleural abnormalities. talc pneumoconiosis pneumoconiosis due to talc MONDO:0001004 Pneumoconiosis caused by exposure to slate dust. Schistosis slate pneumoconiosis MONDO:0001005 Pneumoconiosis caused by inhalation of kaolin dust. Kaolinosis simple kaolinosis kaolin pneumoconiosis https://rarediseases.info.nih.gov/diseases/8355/kaolin-pneumoconiosis MONDO:0001006 glaucomatous atrophy [cupping] of optic disc glaucomatous atrophy of optic disc MONDO:0001007 Chronic form of meningitis (disease). chronic meningitis (disease) meningitis (disease), chronic chronic meningitis MONDO:0001008 The abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids. (Dorland, 27th ed) blepharophimosis (disease) blepharophimosis blepharophimosis (disease) blepharophimosis MONDO:0001009 A single, fluid-filled cyst in the breast parenchyma. solitary cyst of breast solitary cyst of the breast solitary cyst of breast MONDO:0001011 A cystic lesion located in breast tissue. cyst of the breast breast cyst MONDO:0001014 A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia. chronic leukemia chronic leukemia (disease) leukemia (disease), chronic CLL CML adult chronic leukemia chronic leukemia MONDO:0001015 Meningitis in which eosinophils predominate in the cerebrospinal fluid. eosinophilic meningitis MONDO:0001016 A primary or metastatic malignant neoplasm that affects the epididymis. Representative examples include primary epididymal adenocarcinoma and metastatic carcinoma to the epididymis arising from another anatomic site. cancer of epididymis epididymis cancer malignant epididymal neoplasm malignant epididymal tumor malignant epididymis neoplasm malignant neoplasm of epididymis malignant neoplasm of the epididymis malignant tumor of epididymis malignant tumor of the epididymis epididymis cancer MONDO:0001017 A rare adenocarcinoma that arises from the epididymis. It usually presents as a scrotal mass and may be associated with testicular pain. adenocarcinoma of the epididymis epididymal adenocarcinoma epididymis adenocarcinoma epididymal adenocarcinoma MONDO:0001019 A nonspecific term referring to impaired vision. Major subcategories include stimulus deprivation-induced amblyopia and toxic amblyopia. Stimulus deprivation-induced amblyopia is a developmental disorder of the visual cortex. A discrepancy between visual information received by the visual cortex from each eye results in abnormal cortical development. strabismus and refractive errors may cause this condition. Toxic amblyopia is a disorder of the optic nerve which is associated with alcoholism, tobacco smoking, and other toxins and as an adverse effect of the use of some medications. strabismic amblyopia suppression amblyopia MONDO:0001020 Decreased vision that results from abnormal visual development. amblyopia (disease) amblyopia amblyopia (disease) lazy eye amblyopia MONDO:0001021 refractive amblyopia ametropic amblyopia MONDO:0001022 deprivation amblyopia disuse amblyopia MONDO:0001023 A mature B- or T- cell leukemia with progressive clinical course. It is characterized by the presence of medium-sized lymphocytes with visible nucleoli (prolymphocytes) in the peripheral blood, bone marrow, and spleen. PLL prolymphocytic leukemia prolymphocytic leukemia (B or T) prolymphocytic leukemia (B or T-cell) prolymphocytic leukemia MONDO:0001024 A plague in which the bacteria have infected the lungs. primary pneumonic plague secondary pneumonic plague pneumonic plague MONDO:0001025 Chronic form of gonococcal seminal vesiculitis. chronic gonococcal seminal vesiculitis gonococcal seminal vesiculitis, chronic seminal vesicle chronic gonorrhea MONDO:0001027 A gonorrhea that involves the seminal vesicle. gonococcal seminal vesiculitis (acute) gonorrhea of seminal vesicle seminal vesicle gonorrhea gonococcal seminal vesiculitis MONDO:0001028 An acute inflammatory process that affects the tissues that surround and support the teeth. acute periodontitis periodontitis, acute acute pericementitis MONDO:0001029 A congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This syndrome can cause chronic headaches as well as pain in both the neck and the back.Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy. Klippel-Feil Sequence Klippel Feil syndrome Klippel-Feil and Turner syndrome Klippel-Feil deformity, deafness and facial asymmetry autosomal dominant Klippel-Feil syndrome cervical vertebral fusion congenital dystrophia brevicollis congenital synostosis of cervical vertebrae Usage notes: this class includes both isolated forms and forms that are features of other syndromes Klippel-Feil syndrome https://rarediseases.info.nih.gov/diseases/10280/klippel-feil-syndrome MONDO:0001030 stable condition keratoconus keratoconus, stable condition MONDO:0001031 Acute form of suppurative otitis media. acute suppurative otitis media suppurative otitis media, acute purulent acute otitis media MONDO:0001032 Mooren's ulcer Mooren ulcer MONDO:0001033 mycotic corneal ulcer MONDO:0001034 marginal corneal ulcer MONDO:0001035 hypopyon ulcer MONDO:0001036 An accumulation of pus in the anterior chamber of the eye. hypopyon MONDO:0001037 ring corneal ulcer MONDO:0001038 perforated corneal ulcer MONDO:0001039 Inflammation of the tonsillar tissue. chronic tonsillitis inflammation of tonsil throat infection - tonsillitis tonsil inflammation tonsilitis tonsillitis MONDO:0001040 An inflammatory process that affects the nasopharynx. chronic nasopharyngitis inflammation of nasopharynx nasopharynx inflammation nasopharyngitis MONDO:0001041 A dental caries that involves the dentine. compound dental caries dental caries extending into dentine dental caries of dentine dentine dental caries dentin caries MONDO:0001042 A tendinitis that involves the patella. patella tendinitis patellar tendonitis tendinitis of patella patellar tendinitis MONDO:0001044 A congenital abnormality of the esophagus in which the upper esophagus ends as a blind pouch and does not connect with the lower esophagus; it is often accompanied by a tracheoesophageal fistula. Signs and symptoms in a newborn with this abnormality include excessive salivation, choking, coughing, and the development of cyanosis and respiratory distress when fed. esophageal atresia (disease) congenital atresia of esophagus congenital esophageal atresia congenital imperforate esophagus esophageal atresia esophageal atresia (disease) imperforate esophagus oesophageal atresia esophageal atresia MONDO:0001045 A congenital malformation characterized by the absence of a normal opening in a part of the intestine. It can occur either in the small or the large intestine. intestinal atresia (disease) atresia of the intestine congenital intestinal atresia intestinal atresia intestinal atresia (disease) intestinal atresia MONDO:0001046 A congenital birth defect characterized by the absence of a normal anal opening. It may be associated with other congenital abnormalities. anal atresia anus, imperforate congenital atresia of anus congenital or infantile occlusion of anus imperforate anus anal stenosis anorectal malformations imperforate anus MONDO:0001048 A granuloma located on the orbit of the eye. orbital granuloma MONDO:0001049 A pericarditis characterized by inflammation, occurring after injury, located in pericardium. Dressler syndrome Dressler's syndrome postmyocardial infarction syndrome Editor note: TODO Dressler syndrome MONDO:0001050 An otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes. malignant otitis externa MONDO:0001051 Acute form of otitis externa. acute bacterial inflammation of external ear acute otitis externa acute otitis externa, diffuse acute swimmer's ear acute swimmers' ear beach ear otitis externa, acute tank ear acute otitis externa MONDO:0001052 Chronic form of otomycosis. chronic mycotic otitis externa chronic otomycosis otomycosis, chronic chronic fungal otitis externa MONDO:0001053 An otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species. acute infection of pinna MONDO:0001054 double pterygium MONDO:0001055 web eye conjunctival pterygium MONDO:0001056 A primary or metastatic malignant neoplasm involving the stomach. https://github.com/monarch-initiative/mondo/issues/4521 gastric neoplasm Ca lesser curvature - stomach cancer of stomach gastric cancer gastric cancer risk after h. pylori infection gastric cancer, somatic malignant gastric neoplasm malignant gastric tumor malignant neoplasm of lesser curve of stomach malignant neoplasm of stomach malignant neoplasm of the stomach malignant stomach neoplasm malignant tumor of body of stomach malignant tumor of greater curve of stomach malignant tumor of lesser curve of stomach malignant tumor of stomach malignant tumor of the stomach stomach cancer Ca body - stomach ca greater curvature of stomach malignant neoplasm of body of stomach gastric cancer, intestinal gastric cancer MONDO:0001057 A metastasizing granular cell tumor that arises from the stomach. malignant gastric granular cell neoplasm malignant gastric granular cell tumor malignant granular cell neoplasm of stomach malignant granular cell neoplasm of the stomach malignant granular cell stomach neoplasm malignant granular cell stomach tumor malignant granular cell tumor of stomach malignant granular cell tumor of the stomach malignant gastric granular cell tumor MONDO:0001059 An extranodal lymphoma that arises from the stomach with the bulk of the mass located in the stomach. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue. gastric lymphoma lymphoma of stomach lymphoma of the stomach primary gastric lymphoma stomach lymphoma gastric lymphoma MONDO:0001060 An invasive adenocarcinoma confined to the mucosa or mucosa and submucosa of the gastric wall. The regional lymph nodes may or may not be involved. It usually occurs in the lesser curvature. The 5-year survival rate following resection is between 80 percent and 95 percent, and remains high even when lymph node metastases are present. EGC early gastric cancer superficial gastric cancer superficial spreading gastric cancer surface gastric cancer microinvasive gastric cancer MONDO:0001061 A malignant neoplasm involving the pylorus. Ca pylorus - stomach cancer of pylorus malignant neoplasm of Prepylorus malignant neoplasm of pylorus malignant neoplasm of pylorus of stomach malignant pylorus neoplasm malignant tumor of pylorus pylorus cancer pylorus cancer MONDO:0001062 A malignant neoplasm involving the pyloric antrum. cancer of pyloric antrum malignant neoplasm of antrum of stomach malignant neoplasm of pyloric antrum malignant pyloric antrum neoplasm malignant tumor of pyloric antrum pyloric antrum cancer pyloric antrum cancer MONDO:0001063 A malignant neoplasm involving the cardia of stomach. Ca cardia - stomach cancer of cardia of stomach cardia of stomach cancer malignant cardia of stomach neoplasm malignant neoplasm of cardia of stomach cardia cancer MONDO:0001064 Acute form of otosalpingitis. acute eustachian tube salpingitis acute otosalpingitis otosalpingitis, acute acute eustachian salpingitis MONDO:0001065 A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus. antepartum maternal hypotension syndrome maternal hypotension syndrome postpartum maternal hypotension syndrome supine hypotensive syndrome MONDO:0001066 Late yaws is the tertiary, non-contagious stage of yaws, endemic tropical treponemal nonvenereal infection. Late yaws is characterized by destructive and deforming lesions of the skin, bones, and joints. gummata and ulcers due to yaws gummata of yaws gummatous frambeside multiple papillomata due to yaws and wet crab yaws nodular late yaws ulcers of yaws yaws gummata and ulcers late yaws MONDO:0001067 Early yaws includes primary and secondary stages of yaws, endemic tropical treponemal nonvenereal infection: development of initial lesion at inoculation site followed by widespread dissemination of treponemes and generalized secondary granulomatous lesions that may relapse repeatedly. bone and joint lesions due to yaws bone and joint yaws lesion chancre of yaws frambesia, initial or primary initial frambesial ulcer initial lesions of yaws primary frambesia early yaws MONDO:0001068 A metabolic bone disease that results from either a deficiency in vitamin D, or an abnormality in the metabolism of vitamin D, or a deficiency of calcium in the diet. The most common symptoms are bone pain and muscle weakness. When it occurs in children it is commonly referred to as rickets. (Diagnostic Surgical Pathology, 3rd ed.) --2003 osteomalacia (disease) osteomalacia osteomalacia (disease) osteomalacia MONDO:0001071 A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group. intellectual disabilities intellectual disability mental retardation intellectual disability MONDO:0001072 A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation. mild pre-eclampsia MONDO:0001073 idiopathic progressive polyneuropathy MONDO:0001074 A neurological disorder presenting in childhood that is characterized by either motor or phonic tics, but not both, that occur daily or nearly daily for at least a year and are not attributed to an identifiable cause. chronic motor or vocal tic disorder tic disorder, chronic chronic tic disorder MONDO:0001075 A finding of an excessive amount of fat in the stool. steatorrhea (disease) fatty stool fatty stool (finding) steatorrhea steatorrhea (disease) steatorrhea MONDO:0001076 The inability to regulate blood glucose levels resulting in hyperglycemia. glucose: [intolerance] or [malabsorption] glucose: intolerance glucose: malabsorption malabsorption of glucose glucose intolerance MONDO:0001078 A rare disorder of the digestive tract characterized by malabsorption and anemia. It is likely caused by infection leading to small intestinal mucosal injury, bacterial overgrowth and inflammatory changes. It is most prevalent in residents and visitors to tropical and subtropical climates. Clinical signs include anorexia, abdominal bloating, diarrhea and weight loss. Clinical course may progress to deficiencies of folate, vitamin B12 and iron. Prognosis is favorable with nutrient replacement and antibiotic therapy, however relapses are common. post-infective tropical malabsorption sprue - tropical tropical steatorrhea idiopathic tropical malabsorption syndrome tropical enteropathy tropical sprue https://rarediseases.info.nih.gov/diseases/7824/tropical-sprue MONDO:0001079 pancreatic steatorrhoea pancreatic steatorrhea MONDO:0001080 Acute form of gonococcal cervicitis. acute gonorrhea of cervix gonococcal cervicitis (acute) gonococcal cervicitis, acute acute gonococcal cervicitis MONDO:0001081 Acute inflammation of the cervix. Clinical manifestations include mucopurulent vaginal discharge and burning sensation. acute cervicitis (disease) cervicitis (disease), acute acute cervicitis MONDO:0001082 A primary or metastatic malignant tumor involving the lymph node. Lymphomas and metastatic carcinomas are representative examples. -- 2004 lymph node neoplasm cancer of lymph node lymph node cancer malignant lymph node neoplasm malignant neoplasm of lymph node lymph node cancer MONDO:0001083 A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients. adult Fanconi Anemia De toni-Fanconi syndrome De toni-debre-Fanconi syndrome Fanconi syndrome Fanconi's syndrome Fanconi-de toni syndrome Fanconi-de-toni syndrome Lignac-Fanconi syndrome deToni Fanconi syndrome adult Fanconi syndrome congenital Fanconi syndrome infantile nephropathic cystinosis toni-debre-Fanconi syndrome Fanconi renotubular syndrome https://rarediseases.info.nih.gov/diseases/9120/fanconi-syndrome MONDO:0001084 primary optic atrophy MONDO:0001085 Inflammation of the renal tubules and supporting tissues of the kidney. Tubulointerstitial nephritis renal tubulo-interstitial disease interstitial nephritis MONDO:0001086 partial optic atrophy MONDO:0001087 A disorder characterized by an enduring pattern of inability to establish close relationships coupled with cognitive or perceptual distortions, odd beliefs and speech, and eccentric behavior and appearance. schizotypal personality disorder MONDO:0001088 acute inferoposterior infarction acute inferoposterior myocardial infarction acute myocardial infarction of inferoposterior wall Editor note: TODO: positional superclass acute inferoposterior infarction MONDO:0001089 acute inferolateral myocardial infarction acute myocardial infarction of inferolateral wall Editor note: TODO: positional superclass acute inferolateral myocardial infarction MONDO:0001090 Acute form of anterolateral myocardial infarction. acute anterolateral myocardial infarction acute myocardial infarction of anterolateral wall anterolateral myocardial infarction, acute Editor note: TODO: positional superclass acute anterolateral myocardial infarction MONDO:0001091 A benign adipose tissue neoplasm originating in the colon. It is the second most common benign lesion of the colon after benign adenomatous polyps. Older patients are more likely to be affected, and most lesions are located at the right side of large bowel. Colon lipomas may lead to intestinal obstruction. colon lipoma colonic lipoma lipoma of colon lipoma of the colon lipoma of colon MONDO:0001092 A well-circumscribed benign smooth muscle neoplasm arising from the colon. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. colon leiomyoma colonic leiomyoma leiomyoma of colon leiomyoma of the colon colon leiomyoma MONDO:0001093 A lymphangioma arising from the colon. colon lymphangioma colonic lymphangioma lymphangioma of colon lymphangioma of the colon colonic lymphangioma MONDO:0001094 open-angle glaucoma residual stage residual stage of open angle glaucoma residual stage of open angle glaucoma MONDO:0001095 A neuroblastoma arising from the mediastinum. mediastinum neuroblastoma neuroblastoma of mediastinum mediastinal neuroblastoma neuroblastoma of the mediastinum mediastinum neuroblastoma MONDO:0001096 A ganglioneuroblastoma arising from the mediastinum. ganglioneuroblastoma (disease) of mediastinum ganglioneuroblastoma of mediastinum ganglioneuroblastoma of the mediastinum mediastinal ganglioneuroblastoma mediastinum ganglioneuroblastoma (disease) mediastinum ganglioneuroblastoma MONDO:0001098 An anxiety disorder characterized by recurrent excessive distress due to fear of separation from the home or from major attachment figures; the distress is developmentally inappropriate and causes impairment in social, academic, or other areas of functioning. separation anxiety disorder MONDO:0001099 Single or multiple, milk-containing nodules in the breast. It is caused by obstruction of the breast ducts during lactation. Needle aspiration of the milk is the treatment of choice. galactocele Galactocoele lacteal cyst lactocele MONDO:0001100 Excessive enlargement of one or both breasts. Causes include pregnancy, obesity, and penicillamine therapy. It may result in neck, back, and shoulder pain. breast Hypertrophy breasts enlarged gigantomastia hypertrophy of the breast large breast macromastia drug-induced gigantomastia (subtype) gestational gigantomastia (subtype) idiopathic gigantomastia (subtype) juvenile gigantomastia (subtype) medication-induced gigantomastia (subtype) pregnancy-induced gigantomastia (subtype) puberty-induced gigantomastia (subtype) hypertrophy of breast MONDO:0001101 Localized necrosis of the adipose tissue in the breast. Clinically, it may present as a mass. Causes include injury, surgical procedures, and radiation treatment. breast fat necrosis fat Necrosis of the breast fat necrosis of breast MONDO:0001103 An infection of the small intestine caused by the flagellated protozoan giardia lamblia. It is spread via contaminated food and water and by direct person-to-person contact. Giardia infection beaver feaver infection by Giardia lamblia Giardia Giardiases Lambliases infections, Giardia lambliasis giardiasis MONDO:0001104 toxic diffuse goiter MONDO:0001105 Hypertension caused by the kidney's hormonal response to narrowing or occlusion of the renal arteries. renovascular hypertension renal hypertension MONDO:0001106 An acute or chronic condition that is characterized by the inability of the kidneys to adequately filter the blood. failure, renal renal failure renal failure syndrome renal insufficiency kidney failure MONDO:0001108 A malignant neoplasm involving the broad ligament of uterus. broad ligament of uterus cancer cancer of broad ligament of uterus malignant broad ligament of uterus neoplasm malignant neoplasm of broad ligament of uterus broad ligament malignant neoplasm MONDO:0001109 Inflammation of petrous bone. acute petrositis chronic petrositis inflammation of petrous part of temporal bone petrous part of temporal bone inflammation inflammation of petrous bone petrositis MONDO:0001110 Persistent pyelonephritis. pyelonephritis, chronic chronic pyelonephritis MONDO:0001112 A plague in which the bacteria have infected the lymphatic system. black death bubonic plague https://rarediseases.info.nih.gov/diseases/183/bubonic-plague MONDO:0001113 fiedler myocarditis idiopathic myocarditis isolated (Fiedler's) myocarditis Fiedler's myocarditis MONDO:0001114 Myocarditis that is caused by an infection with a bacterial agent. septic myocarditis bacterial myocarditis MONDO:0001115 Polycythemia that occurs in groups of related individuals. erythrocytosis, familial familial polycythemia hereditary polycythemia (disease) primary polycythemia familial polycythemia MONDO:0001116 Inflammation of the mesenteric lymph nodes. lymphadenitis (disease) of mesentery mesenteric adenitis mesenteric lymphadenitis mesentery lymphadenitis (disease) mesenteric lymphadenitis MONDO:0001117 An inherited or acquired condition characterized by abnormally increased levels of methemoglobin in the blood. https://github.com/monarch-initiative/mondo/issues/4614 methemoglobinemias methemoglobinemia MONDO:0001118 A spotted fever that has material basis in Rickettsia australis, which is transmitted by ticks (Ixodes holocyclus). The infection has symptom fever, has symptom headache, has symptom myalgia, has symptom maculopapular rash, and has symptom lymphadenopathy. Rickettsia australis spotted fever Australian tick typhus North Queensland tick typhus Queensland tick typhus MONDO:0001119 Cessation of menstruation before the age of 40. Symptoms include hot flashes, night sweats, mood swings, and decreased sex drive. POF early menopause menopause - premature menopause praecox premature menopause premature ovarian failure premature menopause MONDO:0001120 Inflammation of the frontal sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties. frontal sinusitis, chronic chronic frontal sinusitis MONDO:0001121 An acute or chronic inflammatory process affecting the mucous membrane of the frontal sinus. frontal sinusitis MONDO:0001122 Inflammation of the maxillary sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties. chronic antritis maxillary sinusitis, chronic chronic maxillary sinusitis MONDO:0001123 Inflammation of the sphenoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties. chronic sphenoid sinusitis sphenoid sinusitis, chronic sphenoidal sinus-chr. chronic sphenoidal sinusitis MONDO:0001125 Acute form of gonococcal epididymo-orchitis. gonococcal epididymo-orchitis (acute) gonococcal epididymo-orchitis, acute acute gonococcal epididymo-orchitis MONDO:0001126 An ulcerated lesion in the mucosal surface of the stomach. It may progress to involve the deeper layers of the gastric wall. gastric ulcer (disease) gastric ulcer gastric ulcer (disease) peptic ulcer disease of stomach stomach peptic ulcer disease acute gastric ulcer with haemorrhage and perforation acute gastric ulcer with hemorrhage and obstruction acute gastric ulcer with hemorrhage and perforation acute gastric ulcer with hemorrhage and perforation, with obstruction acute gastric ulcer with hemorrhage and perforation, without mention of obstruction acute gastric ulcer with hemorrhage and with perforation but without obstruction acute gastric ulcer with hemorrhage, with obstruction acute gastric ulcer with hemorrhage, with perforation and with obstruction acute gastric ulcer with perforation acute gastric ulcer with perforation and obstruction acute gastric ulcer with perforation, with obstruction acute gastric ulcer without hemorrhage and without perforation acute gastric ulcer without hemorrhage, without perforation and without obstruction acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction bleeding acute gastric ulcer chronic gastric ulcer without hemorrhage and without perforation chronic gastric ulcer without hemorrhage and without perforation but with obstruction chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction gastric ulcer MONDO:0001127 A tendinitis that involves the tibialis. tendinitis of tibialis tibialis tendinitis tibialis tendinitis MONDO:0001128 A malignant neoplasm involving the nasal cavity cancer of nasal cavity malignant nasal cavity neoplasm malignant nasal cavity tumor malignant neoplasm of nasal cavities malignant neoplasm of nasal cavity malignant neoplasm of the nasal cavity malignant tumor of nasal cavity malignant tumor of the nasal cavity nasal cavity cancer nasal cavity cancer MONDO:0001129 An olfactory neuroblastoma arising in the nasal cavity. nasal cavity olfactory neuroblastoma olfactory neuroblastoma of nasal cavity olfactory neuroblastoma of the nasal cavity nasal cavity olfactory neuroblastoma MONDO:0001130 A primary lymphoma that affects the nasal cavity and the bulk of the tumor is in this anatomic area. lymphoma of nasal cavity lymphoma of the nasal cavity nasal cavity lymphoma primary nasal cavity lymphoma nasal cavity lymphoma MONDO:0001132 A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving acts (real, not simulated) in which the psychological or physical suffering of a victim is sexually exciting to the individual. sexual sadism sexual sadism disorder MONDO:0001133 Essential hypertension with rapid progression to severe high blood pressure, papilledema, and renal failure. accelerated essential hypertension malignant essential hypertension malignant essential hypertension MONDO:0001134 Hypertension that presents without an identifiable cause. idiopathic hypertension primary hypertension essential hypertension MONDO:0001135 A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving observing an unsuspecting person who is naked, disrobing, or engaging in sexual activity. voyeurism MONDO:0001136 chylocele of tunica vaginalis MONDO:0001137 An disease caused by infection with Murray Valley encephalitis virus. Australian X disease Australian encephalitis Murray Valley encephalitis virus caused disease or disorder Murray Valley encephalitis virus disease or disorder Murray Valley encephalitis virus infectious disease Murray valley encephalitis MONDO:0001138 A angiodysplasia that involves the intestine. intestine angiodysplasia angiodysplasia of intestine MONDO:0001139 A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the act (real, not simulated) of being humiliated, beaten, bound, or otherwise made to suffer. sexual masochism sexual masochism disorder MONDO:0001141 As accumulation of granulation tissue in the middle ear that results from the degeneration of blood and a chronic inflammatory response. cholesterin granuloma cholesterin granuloma of middle ear middle ear cholesterol granuloma MONDO:0001142 A disease involving the saliva-secreting gland. disease of saliva-secreting gland disease or disorder of saliva-secreting gland disorder of saliva-secreting gland saliva-secreting gland disease saliva-secreting gland disease or disorder salivary gland disease salivary gland disorder non-neoplastic salivary gland disease salivary gland disorder MONDO:0001143 incomitant dissociation paralytic squint paralytic strabismus MONDO:0001144 partial third nerve palsy third nerve palsy with pupil sparing third or oculomotor nerve palsy, partial partial third-nerve palsy MONDO:0001145 third nerve palsy with pupil involved third or oculomotor nerve palsy, total total third nerve palsy total third-nerve palsy MONDO:0001146 A cranial nerve palsy that involves the trochlear nerve. cranial nerve palsy of trochlear nerve fourth nerve palsy fourth or trochlear nerve palsy trochlear nerve cranial nerve palsy fourth cranial nerve palsy MONDO:0001147 A congenital abnormality in which the meninges protrude through a defect in the spinal column or the cranium. meningocele (disease) central nervous system meningocele meningocele meningocele (disease) spinal meningocele meningocele MONDO:0001148 A thrombophlebitis that involves the iliac vein. iliac vein thrombophlebitis phlebitis and thrombophlebitis of the iliac vein thrombophlebitis of iliac vein iliac vein thrombophlebitis MONDO:0001149 A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex. microcephaly (disease) microcephalus microcephaly microcephaly (disease) microencephaly microcephaly MONDO:0001150 A disorder characterized by an abnormal increase of cerebrospinal fluid in the ventricles of the brain. hydrocephalus, X-linked hydrocephalus, nonsyndromic, autosomal recessive hydrocephalus MONDO:0001151 A condition of mild to moderate high blood pressure that has no identifiable cause. benign essential hypertension benign essential hypertension MONDO:0001152 Systematic and extensive loss of memory caused by organic or psychological factors. The loss may be temporary or permanent, and may involve old or recent memories. Korsakoff's psychosis or syndrome amnesia amnestic syndrome amnesic syndrome amnestic disorder MONDO:0001153 A marked difference between the individual's expressed/experienced gender and the gender others would assign him or her, and it must continue for at least six months. (from DSM-5) transsexualism gender dysphoria MONDO:0001154 A spotted fever that has material basis in Rickettsia sibirica, which is transmitted by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has symptom fever, has symptom eschar, has symptom regional adenopathy, and has symptom maculopapular rash. Manchurian typhus North Asian tick fever North Asian tick fever (disorder) [ambiguous] North Asian tick typhus Rickettsia sibirica spotted fever Siberian tick typhus MONDO:0001155 acute gastrojejunal ulcer with hemorrhage acute gastrojejunal ulcer with hemorrhage and obstruction acute gastrojejunal ulcer with hemorrhage and perforation acute gastrojejunal ulcer with hemorrhage and perforation, with obstruction acute gastrojejunal ulcer with hemorrhage, with perforation and with obstruction acute gastrojejunal ulcer with perforation acute gastrojejunal ulcer with perforation and obstruction acute gastrojejunal ulcer with perforation, with obstruction acute gastrojejunal ulcer without hemorrhage and without perforation acute gastrojejunal ulcer without hemorrhage, without perforation and without obstruction acute gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction acute gastrojejunal ulcer, with hemorrhage, with obstruction chronic gastrojejunal ulcer without hemorrhage and without perforation chronic gastrojejunal ulcer without hemorrhage, without perforation and without obstruction chronic gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction gastrojejunal ulcer MONDO:0001156 A disorder characterized by an enduring pattern of unstable self-image and mood together with volatile interpersonal relationships, self-damaging impulsivity, recurrent suicidal threats or gestures and/or self-mutilating behavior. borderline personality disorder (disease) BPD borderline personality disorder borderline personality disorder (disease) borderline personality disorder MONDO:0001157 A disorder characterized by an enduring pattern of an extreme need to be taken care of together with fear of separation that lead the individual to urgently seek out and submit to another person and allow that person to make decisions that impact all areas of the individual's life. dependent personality disorder MONDO:0001158 A disorder characterized by an enduring pattern of inflexibility, extreme orderliness, and perfectionism which interfere with efficiency and which may manifest in many different contexts, including work and leisure activities, financial matters, and issues of morality or ethics. OCD OCPD anankastic personality disorder obsessional personality obsessive-compulsive personality disorder MONDO:0001159 A disorder characterized by the presence of two or more identities with distinct patterns of perception and personality which recurrently take control of the person's behavior; this is accompanied by a retrospective gap in memory of important personal information that far exceeds ordinary forgetfulness. The changes in identity are not due to substance use or to a general medical condition. dissociative identity disorder multiple personality disorder MONDO:0001160 A category of psychiatric disorders which are characterized by a disruption in the usually integrated functions of consciousness, memory, identity, and/or perception of the environment. dissociative disease dissociative reaction dissociative disorder MONDO:0001161 A disorder characterized by an enduring pattern of extreme social detachment and lack of involvement in interpersonal activities, coupled with emotional coldness. schizoid personality disorder MONDO:0001162 A category of behaviors that can be loosely defined as the failure to resist an impulsive act or behavior that may be harmful to self or others. ICD impulse-control disorder impulse control disorder MONDO:0001163 A disorder characterized by an enduring pattern of behavior based on the pervasive belief that the motives of others are malevolent and that they should not be trusted. paranoid personality disorder MONDO:0001164 A disorder characterized by a pervasive pattern of disregard for and violation of the rights of others that is manifested in childhood or early adolescence. (adapted from DSM-IV) Sociopathy asocial personality dissocial personality disorder psychopath.personality psychopathic personality psychopathic personality disorder psychopathy sociopathic personality antisocial personality disorder MONDO:0001165 A disease involving the tongue. disease of tongue disease or disorder of tongue disorder of tongue tongue disease tongue disease or disorder tongue disorder MONDO:0001166 Inflammation of renal tissue. inflammation of kidney kidney inflammation nephritis MONDO:0001167 A type of cerebral palsy characterized by spasticity and hypertonia of the lower extremities bilaterally, particularly the legs, hips, and pelvis; this is the most common (70%) form of cerebral palsy. Little disease Little's disease cerebral spastic infantile paralysis diplegic infantile cerebral palsy infantile diplegic cerebral palsy infantile spastic cerebral palsy cerebral palsy spastic diplegic spastic diplegia https://rarediseases.info.nih.gov/diseases/9637/spastic-diplegia-cerebral-palsy MONDO:0001168 A type of spastic cerebral palsy characterized by increased muscle tone of the arm and leg on the same side of the body. hemiplegic cerebral palsy hemiplegic infantile cerebral palsy spastic hemiplegic cerebral palsy congenital hemiplegia spastic hemiplegia MONDO:0001169 A spastic cerebral palsy that affects only one limb. infantile monoplegic cerebral palsy monoplegic infantile cerebral palsy spastic monoplegic cerebral palsy spastic monoplegia MONDO:0001170 Severe or complete loss of motor function on one side of the body. This condition is usually caused by brain diseases that are localized to the cerebral hemisphere opposite to the side of weakness. Less frequently, brain stem lesions; cervical spinal cord diseases; peripheral nervous system diseases; and other conditions may manifest as hemiplegia. The term hemiparesis (see paresis) refers to mild to moderate weakness involving one side of the body. infantile hemiplegia postnatal infantile hemiplegia hemiplegia https://rarediseases.info.nih.gov/diseases/6583/hemiplegia MONDO:0001171 Acute form of salpingo-oophoritis. acute salpingitis and oophoritis salpingo-oophoritis, acute acute salpingo-oophoritis MONDO:0001172 Tubo-ovarian inflammatory disease salpingitis/oophoritis tubo ovarian abscess tubo-ovarian abscess tubo-ovarian abscess (disorder) salpingo-oophoritis MONDO:0001173 Acute inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy. salpingitis, acute acute salpingitis MONDO:0001174 A disorder of the vasculature of the cornea. conjunctival vascular abnormality conjunctival vascular disorder conjunctival vasculature disease conjunctival vasculature disease or disorder disease of conjunctival vasculature disease or disorder of conjunctival vasculature disorder of conjunctival vasculature vascular abnormalities of conjunctiva conjunctival vascular disorder MONDO:0001175 A cataract disease in which the cataract contains some transparent protein incipient cataract incipient senile cataract water clefts immature cataract MONDO:0001176 A disease involving the lens of camera-type eye. disease of lens of camera-type eye disease or disorder of lens of camera-type eye disorder of lens of camera-type eye lens disorder lens of camera-type eye disease lens of camera-type eye disease or disorder Includes cataracts, lens subluxation and aphakia lens disorder MONDO:0001177 stenosis of rectum and anus anorectal stricture MONDO:0001178 pseudopterygium MONDO:0001179 A yellowish thickened lesion on the conjunctiva near the cornea representing a benign degenerative change in the conjunctiva caused by the leakage and deposition of certain blood proteins through the permeable capillaries near the limbus. pinguecula MONDO:0001180 Keratopathy that is characterized by the presence of epithelial bullae. bullous keratopathy MONDO:0001181 secondary corneal edema MONDO:0001182 idiopathic corneal edema MONDO:0001183 contact lens corneal edema MONDO:0001184 Chronic form of rapidly progressive glomerulonephritis. chronic glomerulonephritis with lesion of rapidly progressive glomerulonephritis rapidly progressive glomerulonephritis, chronic chronic rapidly progressive glomerulonephritis MONDO:0001185 A disorder characterized by a retrospective gap in memory of important personal information, usually of a traumatic or stressful nature; the memory loss far exceeds ordinary forgetfulness and is not the result of substance use or the consequence of a medical condition. psychogenic amnesia dissociative amnesia MONDO:0001186 A disorder characterized by persistent or recurrent episodes of feeling detached from one's self (either one's body or one's mental processes), although the sufferer remains aware that this is only a feeling and does not represent reality. neurotic derealization depersonalization disorder https://rarediseases.info.nih.gov/diseases/6260/depersonalization-disorder MONDO:0001187 A primary or metastatic malignant neoplasm involving the bladder. https://github.com/monarch-initiative/mondo/issues/4521 tumor of the bladder bladder cancer, somatic cancer of urinary bladder malignant bladder neoplasm malignant bladder tumor malignant neoplasm of bladder malignant neoplasm of the bladder malignant neoplasm of the urinary bladder malignant neoplasm of urinary bladder malignant neoplasm, bladder malignant neoplasm, urinary bladder malignant tumor of bladder malignant tumor of the bladder malignant tumor of the urinary bladder malignant tumor of urinary bladder malignant tumor, urinary bladder malignant urinary bladder neoplasm malignant urinary bladder tumor urinary bladder cancer urinary bladder malignant neoplasm urinary bladder malignant tumor urinary bladder cancer MONDO:0001188 An extranodal lymphoma that arises from the esophagus with the bulk of the mass located in the esophagus. Dysphagia may be the presenting symptom. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue. esophageal lymphoma esophagus lymphoma lymphoma of esophagus lymphoma of the esophagus primary esophageal lymphoma esophagus lymphoma MONDO:0001190 An disease or disorder caused by infection with Brucella suis. Brucella suis caused disease or disorder Brucella suis disease or disorder Brucella suis infectious disease Brucella suis brucellosis MONDO:0001191 An disease or disorder caused by infection with Hirudinea. Hirudinea caused disease or disorder Hirudinea disease or disorder Hirudinea infectious disease leeches hirudiniasis MONDO:0001192 A melanoma affecting the esophageal wall. Melanoma in the esophagus is more commonly metastatic than primary. Primary melanomas of the esophagus are polypoid and clinically aggressive. (WHO, 2000) esophageal melanoma esophagus melanoma esophagus melanoma (disease) melanoma (disease) of esophagus melanoma of esophagus melanoma of the esophagus mucosal melanoma of the esophagus esophageal melanoma MONDO:0001195 A type of tick-borne disease which presents on the skin caused by bacteria of the genus Rickettsia. spotted fever spotted fever group rickettsial disease spotted fever rickettsiae disease spotted fever rickettsiosis fever, spotted fevers, spotted spotted fever Group Rickettsioses spotted fever Group rickettsiosis spotted fevers spotted fever https://rarediseases.info.nih.gov/diseases/4998/spotted-fever MONDO:0001196 dyspareunia, psychogenic non-organic dyspareunia psychologic dyspareunia MONDO:0001197 qualitative platelet defect qualitative platelet deficiency qualitative platelet defect MONDO:0001198 An instance of thrombocytopenia that is acquired during the lifetime of the individual. acquired thrombocytopenia secondary thrombocytopenia acquired thrombocytopenia MONDO:0001199 Ossicular chain dislocation is a separation of the middle ear bones. It results in a hearing loss due to sound not being transmitted properly (conductive hearing loss). Ossicular chain dislocation is also called ossicular chain discontinuity. dislocation of ear ossicles dislocation of ossicles ossicle chain disarticulation ossicle chain discontinuity ossicle chain disruption ossicular dislocation dislocation of ear ossicle MONDO:0001200 High blood pressure caused by an underlying medical condition. secondary hypertension MONDO:0001202 cyst of prostate prostatic cyst MONDO:0001203 dislocation of lacrimal gland prolapse of lacrimal gland MONDO:0001204 A malignant soft tissue neoplasm that arises from the esophagus. Representative examples include Kaposi sarcoma, leiomyosarcoma, rhabdomyosarcoma, and synovial sarcoma. esophageal sarcoma esophagus sarcoma sarcoma of esophagus sarcoma of the esophagus sarcoma, esophagus esophagus sarcoma MONDO:0001205 hypersecretion glaucoma MONDO:0001206 aqueous misdirection MONDO:0001207 respiratory failure of newborn neonatal respiratory failure MONDO:0001208 Life-threatening respiratory failure that develops rapidly. Causes include injury, sepsis, drug overdose, and pancreatitis. It manifests with dyspnea and cyanosis and may lead to cardiovascular shock. acute respiratory failure respiratory failure, acute acute respiratory failure MONDO:0001209 A wart caused by human papillomavirus. It can appear anywhere on the skin. common wart verruca vulgaris viral Warts viral Warts due to papilloma virus viral wart wart common wart MONDO:0001210 Abnormal recession of the eyeball within the eye socket. enophthalmos (disease) enophthalmos enophthalmos (disease) enophthalmos MONDO:0001211 total internal ophthalmoplegia MONDO:0001212 A otitis media which involves transudation of fluid in the middle ear without pus formation. nonsuppurative otitis media non-suppurative otitis media MONDO:0001213 Chronic form of serous otitis media. chronic serous otitis media serous otitis media, chronic chronic secretory otitis media, serous serous glue ear MONDO:0001214 Acute inflammation of the conjunctiva. acute conjunctivitis (disease) conjunctivitis (disease), acute acute conjunctivitis MONDO:0001215 A primary systemic mycosis that results in systemic fungal infection, has material basis in Pseudallescheria boydii, which results in formation of abscesses. Petriellidosis allescheriosis MONDO:0001216 Deterioration of the normal pulp tissue. pulp degeneration MONDO:0001217 Conjunctivitis that is characterized by formation of a pseudomembrane. conjunctivitis with pseudomembrane pseudomembranous conjunctivitis https://rarediseases.info.nih.gov/diseases/8446/conjunctivitis-with-pseudomembrane MONDO:0001218 An upper respiratory tract disease which involves inflammation of both larynx and pharynx. acute laryngopharyngitis MONDO:0001219 serous conjunctivitis, except viral serous conjunctivitis except viral MONDO:0001220 Hypoparathyroidism is is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). Common signs and symptoms includeabdominal pain, brittle nails, cataracts, dry hair and skin,muscle cramps,tetany, pain in the face, legs, and feet, seizures, tingling sensation,and weakened tooth enamel (in children). It may be caused byinjury to the parathyroid glands (e.g., during surgery). Other causes, include low blood magnesium levels, a side effect of radioactive iodine treatment for hyperthyroidism, metabolic alkalosis, DiGeorge syndrome, and type I polyglandular autoimmune syndrome. The goal of treatment is to restore the calcium and mineral balance in the body. hypoparathyroidism, idiopathic (subtype) parathyroid, underactivity of hypoparathyroidism https://rarediseases.info.nih.gov/diseases/6733/hypoparathyroidism MONDO:0001221 Abnormally dilated veins of the esophagus. esophageal varices esophageal varices in disease classified elsewhere, with bleeding esophageal varices with bleeding in disease EC esophageal varices without mention of bleeding esophageal varix esophagus varicose disease varicose disease of esophagus bleeding esophageal varices bleeding oesophageal varices esophageal varices MONDO:0001222 A broad classification of inherited disorders presenting at birth that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective. congenital T-cell immunodeficiency T cell deficiency congenital T-cell immunodeficiency MONDO:0001223 A disease involving the parathyroid gland. disease of parathyroid gland disease of parathyroid glands disease or disorder of parathyroid gland disorder of parathyroid gland parathyroid disease parathyroid gland disease parathyroid gland disease or disorder parathyroid gland diseases parathyroid gland disorder parathyroid gland disorders parathyroid gland disorder MONDO:0001224 Atopic conjunctivitis that is of relatively short duration and that has a rapid onset. Angelucci syndrome Angelucci's syndrome acute atopic conjunctivitis Angelucci syndrome MONDO:0001225 A substance abuse that involves the recurring use of opioid drugs despite negative consequences. opioid abuse MONDO:0001226 Acute inflammation of the conjunctiva characterized by pink or red color in the eyes. Contagious opthalmia conjunctivitis infective pinkeye acute contagious conjunctivitis MONDO:0001227 Chronic form of tympanitis. tympanitis, chronic chronic tympanitis MONDO:0001228 acute follicular conjunctivitis conjunctival folliculosis MONDO:0001229 A diverticulitis that involves the small intestine. diverticulitis of small intestine diverticulosis of small intestine with hemorrhage small intestine diverticulitis small intestine diverticulitis MONDO:0001230 acute inflammation of orbit acute orbital inflammation MONDO:0001231 orbital periostitis MONDO:0001232 orbital osteomyelitis orbital osteomyelitis MONDO:0001233 tenonitis orbital tenonitis MONDO:0001234 An auditory system disease that is characterized by a thin retracted ear drum becomes sucked into the middle-ear space and stuck (i.e., adherent) to the ossicles and other bones of the middle ear. adhesive middle ear disease adhesive otitis media chronic adhesive otitis media fibrotic adhesive otitis media adhesive otitis media MONDO:0001235 A malignant neoplasm involving the vermiform appendix cancer of the appendix cancer of vermiform appendix malignant appendix neoplasm malignant appendix tumor malignant neoplasm of appendix malignant neoplasm of appendix vermiformis malignant neoplasm of the appendix malignant neoplasm of vermiform appendix malignant tumor of appendix malignant tumor of the appendix malignant vermiform appendix neoplasm vermiform appendix cancer appendix cancer MONDO:0001236 A benign or malignant neoplasm involving the appendix. appendix neoplasm appendix tumor neoplasm of appendix neoplasm of the appendix neoplasm of vermiform appendix tumor of appendix tumor of the appendix tumor of vermiform appendix vermiform appendix neoplasm vermiform appendix neoplasm (disease) vermiform appendix tumor appendiceal neoplasm MONDO:0001237 A lymphoma arising from the appendix. The majority of lymphomas affecting the appendix represent disease extension from the intestinal wall; primary lymphomas of the appendix are rare. appendiceal lymphoma appendix lymphoma lymphoma of appendix lymphoma of the appendix lymphoma of vermiform appendix primary appendix lymphoma vermiform appendix lymphoma appendix lymphoma MONDO:0001238 A condition in which the red blood cell level is greater than established reference ranges in a newborn. neonatal polycythemia polycythemia neonatorum polycythemia of the newborn plethora of newborn polycythemia neonatorum MONDO:0001239 A blood disorder characterized by low hemoglobin levels in premature neonates that usually spontaneously resolves within 3-6 months post birth. A combination of factors including the transition from the liver to the bone marrow for erythropoiesis in a neonate, blood loss experienced during delivery, the shortened life span of fetal blood cells, and an acclimation to a relatively hyperoxic environment outside the womb can predispose a neonate to this condition. AOP anemia of prematurity MONDO:0001240 The mildest form of erythroblastosis fetalis in which anemia is the chief manifestation. anemia neonatal neonatal anemia MONDO:0001241 transient neonatal neutropenia MONDO:0001242 A clotting condition characterized as a disruption in the homeostatic balance of the coagulation and fibrinolytic systems presenting as a pathological activation of coagulation mechanisms leading to the formation of small clots inside the blood vessels throughout the body of the newborn. DIC in newborn disseminated intravascular coagulation in newborn neonatal disseminated intravascular coagulation disseminated intravascular coagulation in newborn MONDO:0001243 A pathological process where the blood starts to coagulate throughout the whole body. This depletes the body of its platelets and coagulation factors, and there is an increased risk of hemorrhage. DIC DIC, disseminated intravascular coagulation coagulation (DIC), disseminated intravascular consumptive coagulopathy defibrination syndrome diffuse or disseminated intravascular coagulation disseminated intravascular coagulation disseminated intravascular coagulation (DIC) intravascular coagulation (DIC), disseminated disseminated intravascular coagulation MONDO:0001244 Deficiency of vitamin K. It may lead to bleeding, manifested with ecchymoses, petechiae, and hematomas. In infants it may cause hemorrhagic disease of newborn with intracranial and retroperitoneal bleeding. deficiency of vitamin K vitamin K deficiency vitamin K deficiency coagulation disorder vitamin K deficiency hemorrhagic disease MONDO:0001245 Anemia in which the red blood cell volume is decreased. microcytic anemia MONDO:0001246 A group of infectious diseases that include epidemic typhus, scrub typhus and murine typhus. typhus fever typhus-group rickettsiae disease typhus-group rickettsiosis endemic flea-borne typhus endemic typhus fever epidemic louse-borne typhus exanthematic typhus fever flea typhus louse-borne [epidemic] typhus murine [endemic] typhus European typhus Mexican typhus Moscow typhus Urban typhus classical typhus classical typhus (fever) epidemic (louse-borne) typhus epidemic louse-borne typhus fever due to Rickettsia prowazekii exanthematous typhus famine fever flea-borne rickettsiosis flea-borne typhus hospital fever jail fever louse-borne rickettsiosis louse-borne typhus murine typhus petechial fever prison fever rat flea typhus ship fever shop typhus typhus exanthematique typhus MONDO:0001247 An anxiety disorder characterized by an intense, irrational fear of one or more social or performance situations in which the individual believes that he or she will be scrutinized by others. Exposure to social situations immediately provokes an anxiety response. In adults, the social phobia is recognized as excessive or unreasonable. social anxiety disorder social phobia MONDO:0001249 A chronic infection of the conjunctiva and cornea caused by chlamydia trachomatis. active stage trachoma trachoma dubium trachoma https://rarediseases.info.nih.gov/diseases/10374/trachoma MONDO:0001250 An eye disorder that results from vitamin A deficiency, with basis in disruption of maintenance of the specialized epithelial surfaces, leading to atrophic changes in the normal mucosal surface, with loss of goblet cells, and replacement of the normal epithelium by an inappropriate keratinized stratified squamous epithelium. In addition, the substantia propria of the cornea breaks down and liquefies, resulting in keratomalacia. keratomalacia MONDO:0001251 Chronic form of periapical periodontitis. chronic periapical periodontitis periapical periodontitis, chronic chronic apical periodontitis MONDO:0001252 Nodular enlargement of the thyroid gland associated with hyperthyroidism. Plummer disease Plummer's disease Toxic goiter toxic nodular goiter Plummer disease MONDO:0001255 An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease. Air-conditioner and humidifier lung humidifier lung humidifiers lung ventilation systems lung ventilation pneumonitis MONDO:0001256 A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures. arteriovenous angioma arteriovenous hemangioma arteriovenous hemangioma/malformation racemose aneurysm racemose aneurysm (morphologic abnormality) racemose angioma racemose hemangioma racemose hemangioma (morphologic abnormality) arteriovenous malformation cirsoid aneurysm Editor note: NCIT conflates hemangioma and malformation arteriovenous hemangioma/malformation MONDO:0001257 Will be obsoleted in favor of HP class, see https://github.com/obophenotype/human-phenotype-ontology/issues/4265 retinal microaneurysm MONDO:0001258 occlusion and stenosis of vertebral artery vertebral artery occlusion vertebrobasial artery occlusion vertebral artery occlusion MONDO:0001259 Ischemic necrosis of the pituitary gland. pituitary gland infarction pituitary infarct pituitary infarction pituitary gland infarction MONDO:0001260 An unusual presentation of schistosomiasis characterized by a pruritic papular rash in the perigenital or periumbilical area due to an allergic reaction to schistosoma eggs deposited in the skin. Sea bather's eruption cutaneous schistosomiasis duck Itch lake Itch swimmer's itch cercarial dermatitis https://rarediseases.info.nih.gov/diseases/9747/cercarial-dermatitis MONDO:0001261 A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a relatively constant PR interval prior to the block of an atrial impulse. (CDISC) AV block second degree Mobitz type II AV block second degree Möbitz type II Mobitz (type) II atrioventricular block Mobitz II Mobitz II atrioventricular block Mobitz type II second degree AV block Möbitz II Möbitz type II second degree AV block second degree atrioventricular block Mobitz type II second degree atrioventricular block Möbitz type II type 2 2nd degree AV block type 2 second degree AV block type II second degree AV block type II second degree atrioventricular block Mobitz type II atrioventricular block MONDO:0001262 An disease or disorder caused by infection with Histoplasma capsulatum var. duboisii. African histoplasmosis Histoplasma capsulatum var. duboisii caused disease or disorder Histoplasma capsulatum var. duboisii disease or disorder Histoplasma capsulatum var. duboisii infectious disease Histoplasma duboisii infection infection by Histoplasma duboisii large form histoplasmosis African histoplasmosis MONDO:0001263 An retinitis caused by infection with Histoplasma capsulatum. Histoplasma capsulatum caused retinitis Histoplasma capsulatum retinitis histoplasmosis with retinitis histoplasmosis retinitis MONDO:0001265 A disorder that differs from schizophrenia specifically in total duration (schizophreniform disorder lasts at least 1 month but less than 6 months whereas schizophrenia lasts at least 6 months); schizophreniform disorder also typically causes less impairment in the individual's social and occupational functioning. schizophreniform disorder MONDO:0001266 An infection of the upper layers of the skin caused by species of streptococcus. Erysipelas results in a fiery red rash with raised edges that can easily be distinguished from the skin around it. The affected skin may be warm to the touch. The most common cause is group A streptococcal bacteria, especially Streptococcus pyogenes erysipelas https://rarediseases.info.nih.gov/diseases/6370/erysipelas MONDO:0001268 A loss of gum tissue resulting in an exposure of the roots of the teeth. gingival recession gingival recession, localized gingival recession, unspecified localized gingival recession minimal gingival recession moderate gingival recession severe gingival recession gingival recession MONDO:0001269 A disorder affecting the sclera. Examples include inflammatory processes (e.g., scleritis and episcleritis), and degenerative processes. Primary tumors of the sclera are extremely rare. disease of sclera disease or disorder of sclera disorder of sclera sclera disease sclera disease or disorder sclera disorder scleral disorder scleral disorder MONDO:0001270 calculus in diverticulum of bladder stone in bladder diverticulum MONDO:0001271 A partial dislocation of the lens of the eye. lens subluxation (disease) lens subluxation lens subluxation (disease) subluxation of lens lens subluxation MONDO:0001272 functional diarrhea MONDO:0001273 An abnormal dilation of the colon not due to obstruction. dilatation of colon megacolon MONDO:0001274 anal spasm MONDO:0001275 Spinal meningioma isa rare type of spinal cord cancer. The spinal cord is part of the central nervous system. This tumor often affects middle-aged women. Tumors of the spinal cord can be either primary or arise from other primary tumors (metastatic), and are typically slow growing. The initial signs and symptoms include headacheand recent onset of seizures. Other features are motor deficits, sensory deficits, pain, and sphincter dysfunction. The thoracic spine (middle back) is the most common site, followed by the cervical spine (neck). These tumors are rarely seen in the lumbar region (lower back). T he only proven risk factor in the development of meningioma is exposure to ionizing radiation. Also, patients with neurofibromatosis type 2 are at increased risk of developing meningioma. Surgery is the treatment of choice and complete tumor removal is reached in the vast majority of patients. The prognosis after surgical resection is excellent. meningioma (disease) of spinal cord meningioma of spinal cord meningioma of the spinal cord spinal cord meningioma spinal cord meningioma (disease) meningioma, spine spinal meningioma https://rarediseases.info.nih.gov/diseases/10264/spinal-meningioma MONDO:0001276 A disorder characterized by an impairment in the development of an individual's expressive language which is in contrast to his/her nonverbal intellect and receptive language development. The impairment may be acquired (i.e., due to a brain lesion or head trauma) or developmental (i.e., no known neurological insult). developmental expressive language disorder expressive language disorder expressive language disorder MONDO:0001277 An inflammatory disease involving a pathogenic inflammatory response in the cerebral artery. cerebral artery inflammation inflammation of cerebral artery cerebral arteritis MONDO:0001279 A meningioma that arises from the spinal meninges. intraspinal meningioma meningioma of spinal canal and spinal cord meningioma of the spinal canal and spinal cord spinal canal and spinal cord meningioma intraspinal meningioma MONDO:0001280 An inflammatory process that affects the choroid. Choroiditides choroiditis posterior uveitis posterior uveitis (disease) choroiditis MONDO:0001281 A form of ocular misalignment where the visual axes diverge inappropriately. For example, medial rectus muscle weakness may produce this condition as the affected eye will deviate laterally upon attempted forward gaze. An exotropia occurs due to the relatively unopposed force exerted on the eye by the lateral rectus muscle, which pulls the eye in an outward direction. alternating exotropia MONDO:0001282 Endometriosis that affects the fallopian tube. Symptoms include infertility, pelvic pain, painful menstruation, and painful intercourse. endometriosis (disease) of fallopian tube endometriosis of fallopian tube fallopian tube endometriosis fallopian tube endometriosis (disease) fallopian tube endometriosis MONDO:0001283 A benign pathologic process characterized by the transformation of the mesothelium into fallopian tube epithelium. It occurs in the peritoneum and may affect the serosa surface of the uterus and the adnexa. It may be asymptomatic or present as pelvic pain. endosalpingiosis endosalpingiosis is not a variant of endometriosis - PMID:22819185 endosalpingiosis MONDO:0001284 Endometriosis that affects the intesines. endometriosis (disease) of intestine intestine endometriosis (disease) endometriosis of intestine MONDO:0001285 endometriosis of pelvic peritoneum MONDO:0001286 A form of strabismus in which the eyes are deviated laterally. divergent concomitant strabismus divergent strabismus exotropia MONDO:0001287 endometriosis in scar of skin scar endometriosis endometriosis in cutaneous scar MONDO:0001288 Endometriosis that affects the vagina. It is characterized by the presence of endometrial stroma with or without endometrial-type glands in the vagina. vaginal endometriosis endometriosis of rectovaginal septum and vagina MONDO:0001290 Inflammation of the small vessels of the skin that is mediated by the immune system. allergic cutaneous angiitis autoimmune hypersensitivity angiitis allergic cutaneous vasculitis MONDO:0001291 brain compression MONDO:0001292 A disease involving the autonomic nervous system. autonomic nervous disease autonomic nervous system disease autonomic nervous system disease or disorder autonomic nervous system disorder disease of autonomic nervous system disease or disorder of autonomic nervous system disorder of autonomic nervous system disorder of peripheral autonomic nervous system disorder of the autonomic nervous system autonomic peripheral nervous system diseases dysautonomia peripheral autonomic nervous system diseases ANS (autonomic nervous system) diseases ANS disease ANS diseases autonomic central nervous system diseases autonomic disease autonomic diseases autonomic dysfunction, segmental autonomic dysfunctions, segmental autonomic nervous system disorders central autonomic nervous system diseases disorders of the autonomic nervous system nervous system diseases, autonomic nervous system diseases, sympathetic segmental autonomic dysfunction segmental autonomic dysfunctions Editor note: We follow uberon and treat ANS as part of PNS. TODO - curate subtypes from http://neuromuscular.wustl.edu/autonomic.html autonomic nervous system disorder MONDO:0001293 A malignant neoplasm that affects the subglottic area of the larynx. The vast majority of cases are squamous cell carcinomas. Ca larynx - subglottis cancer of subglottis malignant neoplasm of subglottis malignant neoplasm of the subglottis malignant subglottic neoplasm malignant subglottic tumor malignant subglottis neoplasm malignant subglottis tumor malignant tumor of subglottis malignant tumor of the subglottis subglottis cancer subglottis cancer MONDO:0001294 Horner's syndrome is a rare condition characterized by miosis (constriction of thepupil), ptosis (drooping of the upper eyelid), and anhidrosis (absence of sweating of the face). It iscaused by damage to the sympathetic nerves of the face. The underlying causes of Horner's syndrome vary greatly and may include a tumor, stroke, or other damage to a part of the brain called the brain stem ; injury to the carotid artery ;and trauma to the brachial plexus. In rare cases, Horner's syndrome is congenital (present from birth) and associated with a lack of pigmentation of the iris (colored part of the eye). Treatment of Horner's syndrome depends on the underlying cause. Bernard Horner syndrome Horner syndrome Horner's syndrome cervical sympathetic paralysis Bernard-Horner syndrome oculosympathetic palsy Horner syndrome https://rarediseases.info.nih.gov/diseases/6670/horners-syndrome MONDO:0001295 idiopathic peripheral autonomic neuropathy MONDO:0001296 An instance of night blindness that is acquired during the lifetime of the individual. acquired night blindness acquired night blindness MONDO:0001297 Acute compression of the heart caused by increased intrapericardial pressure due to the collection of blood or fluid in the pericardium from rupture of the heart, penetrating trauma, or progressive effusion. pericardial tamponade rose's tamponade cardiac tamponade MONDO:0001298 Dysfunction of the mitral valve characterized by incomplete valve closure. congenital insufficiency of mitral valve congenital mitral insufficiency congenital mitral regurgitation insufficiency, mitral mitral insufficiency mitral regurgitation mitral valve incompetence mitral valve insufficiency congenital mitral valve insufficiency MONDO:0001299 Autonomic neuropathy that is caused by diabetes mellitus. diabetic autonomic neuropathy MONDO:0001300 An inherited or acquired peripheral neuropathy affecting the autonomic nervous system. It results in disruption of the involuntary body functions. Inherited causes include Fabry disease and porphyrias. Acquired causes include diabetes, uremia, hepatic disorders, vitamin deficiencies, toxins, and drug toxicities. autonomic nervous system peripheral neuropathy autonomic peripheral neuropathy peripheral neuropathy of autonomic nervous system autonomic neuropathy MONDO:0001301 Rumination disorder is the backward flow of recently eaten food from the stomach to the mouth. The food is then re-chewed and swallowed or spat out. A non-purposeful contraction of stomach muscles is involved in rumination. It may be initially triggered by a viral illness, emotional distress, or physical injury. In many cases, no underlying trigger is identified. Behavioral therapy is the mainstay of treatment. psychogenic rumination rumination rumination syndrome rumination disorder https://rarediseases.info.nih.gov/diseases/7594/rumination-disorder MONDO:0001302 Abnormal enlargement of the heart resulting from long-standing hypertension. hypertensive heart disease hypertensive cardiomegaly hypertensive cardiopathy hypertensive cardiovascular disease hypertensive heart disease MONDO:0001303 abnormal pupillary function (disease) abnormal pupillary function abnormal pupillary function (disease) abnormal pupillary function MONDO:0001304 hypertensive renal disease, benign hypertensive renal disease, benign, without mention of renal failure benign hypertensive renal disease MONDO:0001305 Narrowing of the laryngeal airway. stenosis of larynx laryngostenosis MONDO:0001307 An abscess of the cornea. Editor note: consider placing in HPO corneal abscess MONDO:0001308 deposits - cornea Editor note: consider placing in HPO corneal deposit MONDO:0001309 Paralysis of the oculomotor nerve. III nerve palsy IIIrd nerve paralysis cranial nerve palsy of oculomotor nerve oculomotor nerve cranial nerve palsy oculomotor nerve paralysis oculomotor palsy third cranial nerve paralysis oculomotor nerve paralysis MONDO:0001310 Bowman membrane folds or rupture folds and/or rupture of bowman's membrane Bowman's membrane folds or rupture MONDO:0001312 A acute transudative otitis media with thin, watery and sterile effusion. acute non-suppurative otitis media - serous acute serous otitis media MONDO:0001313 A acute serous otitis media caused by an allergen. acute allergic serous otitis media MONDO:0001314 An acute episode of pain, swelling, and redness, sometimes associated with fever. It is caused by the deposition of calcium pyrophosphate crystals in the joints. calcium pyrophosphate deposition disease pseudogout chondrocalcinosis MONDO:0001315 A clinical syndrome characterized by palpitation, shortness of breath, labored breathing, subjective complaints of effort and discomfort, all following slight physical exertion. Other symptoms may be dizziness, tremulousness, sweating, and insomnia. Neurocirculatory asthenia is most typically seen as a form of anxiety disorder. Da Costa's syndrome Krishaber's disease cardiovascular malfunction arising from mental factors cardiovascular neurosis neurocirculatory asthenia MONDO:0001316 An infectious meningitis caused by infection with Streptococcus. Streptococcus caused infectious meningitis Streptococcus infectious meningitis streptococcal meningitis MONDO:0001317 Phlyctenular keratoconjunctivitis strumous ophthalmia phlyctenulosis MONDO:0001318 disorder of function of stomach disorder of gastric function disorder of stomach function functional gastric disorder functional gastric disturbance functional gastric disease MONDO:0001319 Lateral Wall of bladder malignant neoplasm of lateral wall of urinary bladder bladder lateral wall cancer MONDO:0001320 Editor note: consider placing in HPO ring staphyloma MONDO:0001322 A malignant neoplasm involving the pericardium. pericardial tumor cancer of pericardium malignant neoplasm of pericardium malignant neoplasm of the pericardium malignant pericardial neoplasm malignant pericardial tumor malignant pericardium neoplasm malignant tumor of pericardium malignant tumor of the pericardium pericardium cancer pericardium cancer MONDO:0001323 Transient bilateral swelling of breast tissue in a neonate that results from the waning influence of maternal estrogen. breast engorgement in newborn neonatal gynaecomastia infant gynecomastia MONDO:0001325 A primary or metastatic malignant neoplasm that affects the penis. Representative examples include penile carcinoma and penile sarcoma. penile neoplasm Ca penis cancer of penis malignant neoplasm of body of penis malignant neoplasm of penis malignant neoplasm of the penis malignant penile neoplasm malignant penile tumor malignant penis neoplasm malignant tumor of penis malignant tumor of the penis penile Ca penile cancer penis cancer penile cancer MONDO:0001326 Death of pulp tissue with or without bacterial invasion. When the necrosis is due to ischemia with superimposed bacterial infection, it is referred to as pulp gangrene. When the necrosis is non-bacterial in origin, it is called pulp mummification. necrosis of pulp necrosis of the pulp necrotic pulp pulp necrosis dental pulp necrosis MONDO:0001327 pelvic muscle wasting MONDO:0001328 An inherited autosomal recessive trait, characterized by peripheral resistance to thyroid hormones and the resulting elevation in serum levels of thyroxine and triiodothyronine. generalized thyroid hormone resistance thyroid hormone resistance thyroid hormone resistance syndrome thyroid hormone responsiveness defect RTH TSH resistance resistance to thyroid stimulating hormone resistance to thyrotropin thyroid hormone resistance syndrome MONDO:0001329 spasm of accommodation accommodative spasm MONDO:0001330 The normal decreasing elasticity of the crystalline lens that leads to loss of accommodation. presbyopia MONDO:0001331 conjunctival deposit MONDO:0001332 A syndrome that involves sudden and rapidly developing attacks of arthritis with a remission period that results in no joint damage or symptoms. Hench's syndrome Hench-Rosenberg syndrome palindromic rheumatism MONDO:0001334 A hypertrichosis (disease) that involves the eyelid. eyelid hypertrichosis (disease) hypertrichosis (disease) of eyelid hypertrichosis of eyelid MONDO:0001335 A hypotrichosis that involves the eyelid. eyelid hypotrichosis hypotrichosis of eyelid MONDO:0001336 An instance of hyperlipidemia (disease) that is caused by an inherited modification of the individual's genome. hyperlipemia hyperlipidaemia hereditary hyperlipidemia (disease) familial hyperlipemia familial hyperlipoproteinemia familial hyperlipidemia MONDO:0001337 inflamed seborrheic keratosis MONDO:0001338 acute apical periodontitis of pulpal origin acute apical periodontitis MONDO:0001339 The formation of a blood clot (thrombus) in the portal vein. portal vein thrombotic disease thrombotic disease of portal vein portal vein thrombosis MONDO:0001340 A malignant neoplasm involving the heart Cardiac tumor tumour of heart Cardiac neoplasm, malignant cancer of heart heart cancer malignant Cardiac neoplasm malignant Cardiac tumor malignant heart neoplasm malignant heart tumor malignant neoplasm of heart malignant neoplasm of the heart malignant tumor of heart malignant tumor of the heart heart cancer MONDO:0001341 A dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class A (IgA). It is the most common primary antibody deficiency. It may be inherited or the reversible sequela of infection or certain drugs. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Though affected persons may be asymptomatic, low levels of IgA will reduce the immune system's ability to combat infection where IgA is normally secreted, at mucosal surfaces. Selective IgA deficiency is seen in greater proportion among patients with autoimmune disorders. IgA deficiency SIgAD gamma-A-globulin deficiency immunoglobulin A deficiency selective IgA immunodeficiency selective immunoglobulin A deficiency IgA deficiencies deficiencies, IgA deficiency, IgA immunoglobulin alpha deficiency selective IgA deficiency disease MONDO:0001342 An immunologic deficiency state characterized by selective deficiencies of one or more, but not all, classes of immunoglobulins. dysgammaglobulinemia (disease) dysgammaglobulinemia dysgammaglobulinemia (disease) dysgammaglobulinemia (finding) dysgammaglobulinemia MONDO:0001343 Any disease in which the causes of the disease is a perturbation of the kidney leading to its dysfunction. disease of kidney kidney disease impaired renal function disease MONDO:0001345 A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences. antidepressant type abuse MONDO:0001347 An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm. Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well. FSH dystrophy FSHD Landouzy Dejerine muscular dystrophy Landouzy-Dejerine muscular dystrophy Landouzy-Dejerine myopathy facioscapulohumeral dystrophy facioscapulohumeral muscular dystrophy facioscapulohumeral myopathy muscular dystrophy, Landouzy-Dejerine facioscapulohumeral muscular dystrophy MONDO:0001349 odontoclasia MONDO:0001350 A malignant neoplasm involving the parametrium. cancer of parametrium malignant neoplasm of parametrium malignant parametrium neoplasm parametrium cancer parametrium malignant neoplasm MONDO:0001351 Editor note: TODO add uberon class uterine adnexa cancer MONDO:0001352 A malignant neoplasm involving the round ligament of uterus. cancer of round ligament of uterus malignant neoplasm of round ligament malignant neoplasm of round ligament of uterus malignant round ligament of uterus neoplasm round ligament of uterus cancer round ligament malignant neoplasm MONDO:0001353 Any disease caused by infection with by Bordetella parapertussis. The symptoms are similar but less severe than Bordetella pertussis whooping cough. Bordetella parapertussis caused disease or disorder Bordetella parapertussis disease or disorder infection due to Bordetella parapertussis Bordetella parapertussis infection Bordetella parapertussis whooping cough infection caused by Bordetella parapertussis Bordetella parapertussis infectious disease MONDO:0001355 A hemosiderosis that involves the camera-type eye. camera-type eye hemosiderosis hemosiderosis of camera-type eye siderosis bulbi siderosis of eye siderosis of globe ocular siderosis MONDO:0001356 Anemia caused by low iron intake, inefficient iron absorption in the gastrointestinal tract, or chronic blood loss. iron-deficiency anemia iron deficiency anemia MONDO:0001357 Anemia caused by the reduction of hemoglobin in relation to the red cell volume. As a result, the red cells have an area of central pallor which is increased in size. The leading cause is iron deficiency. hypochromic anemia (disease) anemia hypochromic hypochromic anemia hypochromic anemia (disease) hypochromic anemia MONDO:0001358 A disease involving the bronchus. bronchial disorder bronchospasm bronchus disease bronchus disease or disorder disease of bronchus disease or disorder of bronchus disorder of bronchus bronchial disorder MONDO:0001360 blind hypotensive eye MONDO:0001361 Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272) ocular nystagmus searching eye movements visual deprivation nystagmus spontaneous ocular nystagmus MONDO:0001363 blind hypertensive eye MONDO:0001364 regular astigmatism MONDO:0001365 partial loss or necrosis of ear ossicles Editor note: TODO consider cede to HPO necrosis of ear ossicle MONDO:0001366 Editor note: TODO consider cede to HPO splenic sequestration MONDO:0001367 Chronic form of congestive splenomegaly. congestive splenomegaly, chronic chronic congestive splenomegaly MONDO:0001368 phthisical cornea MONDO:0001369 Persistent laryngitis usually caused by smoking, heavy alcohol consumption, voice abuse, or gastroesophageal reflux disease. It results in hoarseness and other voice changes. laryngitis, chronic chronic laryngitis MONDO:0001370 Fluid collection within the pericardial sac, usually due to inflammation. pericardial effusion (disease) fluid, pericardial pericardial effusion pericardial effusion (disease) pericardial fluid pericardial effusion MONDO:0001371 A nutritional deficit that is caused by inadequate protein or calorie intake. Protein energy malnutrition protein-energy malnutrition MONDO:0001372 A malignant neoplasm involving the neck of urinary bladder. cancer of neck of urinary bladder malignant neck of urinary bladder neoplasm malignant neoplasm of neck of urinary bladder malignant neoplasm of urinary bladder neck malignant tumor of bladder neck neck of urinary bladder cancer bladder neck cancer MONDO:0001373 malignant neoplasm of posterior wall of urinary bladder urinary bladder posterior wall cancer MONDO:0001374 A malignant mesenchymal cell neoplasm that affects the urinary bladder. bladder sarcoma sarcoma of bladder sarcoma of the bladder sarcoma of the urinary bladder sarcoma of urinary bladder urinary bladder sarcoma bladder sarcoma MONDO:0001375 A malignant neoplasm involving the trigone of urinary bladder. cancer of trigone of urinary bladder malignant neoplasm of trigone of urinary bladder malignant trigone of urinary bladder neoplasm trigone of urinary bladder cancer bladder trigone cancer MONDO:0001376 malignant neoplasm of anterior wall of urinary bladder urinary bladder anterior wall cancer MONDO:0001377 vitreous degeneration Editor note: TODO consider cede to HPO vitreous syneresis MONDO:0001378 A malignant neoplasm involving the urachus. cancer of urachus malignant neoplasm of urachus malignant tumor of urachus malignant urachus neoplasm urachus cancer urachus cancer MONDO:0001379 A malignant neoplasm involving the ureteral orifice. cancer of ureteral orifice malignant neoplasm of ureteral orifice malignant neoplasm of ureteric orifice of urinary bladder malignant tumor of ureteric orifice malignant ureteral orifice neoplasm orifice of the ureter ureteral orifice cancer ureteric orifice cancer MONDO:0001380 Cancer of the upper, convex surface of the bladder. cancer of fundus of urinary bladder fundus of urinary bladder cancer malignant fundus of urinary bladder neoplasm malignant neoplasm of apex of urinary bladder malignant neoplasm of dome of urinary bladder malignant neoplasm of fundus of urinary bladder malignant tumor of vault of bladder superior surface of bladder bladder dome cancer MONDO:0001381 A lymphoma that involves the urinary bladder. lymphoma of bladder lymphoma of the bladder lymphoma of the urinary bladder lymphoma of urinary bladder primary bladder lymphoma urinary bladder lymphoma bladder lymphoma MONDO:0001382 Hepatorenal syndrome is a form of impaired kidney function that occurs in individuals with advanced chronic liver disease. As many as 40% of individuals with cirrhosis and ascites will develop hepatorenal syndrome. Symptoms may include fatigue, abdominal pain, and a general feeling of ill health (malaise). There are two distinct types of hepatorenal syndrome. Type I progresses quickly (within days), leading to kidney failure. Individuals with type I typically have dramatically reduced urine output, edema, and jaundice, and often suffer from hepatic encephalopathy. Type II progresses more slowly, over weeks or months, and the symptoms are less severe. The cause of hepatorenal syndrome is unknown. A contributing factor seems to be a narrowing of the blood vessels that connect into the kidneys. This causes a decrease in blood flow to the kidneys, impairing their function. In some cases, triggers or precipitating factors (infections, blood loss from the gastrointestinal tract, low blood pressure) are involved. Treatment is aimed at helping the liver work better and maintaining kidney function. In many cases, a liver transplant is needed. In some cases, individuals also need a kidney transplant. hepato-renal syndrome hepatorenal syndrome https://rarediseases.info.nih.gov/diseases/6610/hepatorenal-syndrome MONDO:0001383 Excessive axial myopia associated with complications (especially posterior staphyloma and choroidal neovascularization) that can lead to blindness. degenerative progressive high myopia pathological myopia progressive high (degenerative) myopia progressive high myopia degenerative myopia MONDO:0001384 The condition in which the individual does not see far distances clearly. myopia (disease) myopia myopia (disease) near vision near-sightedness short-sightedness myopia MONDO:0001385 Visual impairment due to visual cortex dysfunction. cortical blindness MONDO:0001386 Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as epilepsy or 'seizure disorder.' epilepsy, visual visual epilepsy MONDO:0001387 A malignant soft tissue neoplasm that arises from the penis. Representative examples include Kaposi sarcoma, leiomyosarcoma, and angiosarcoma. penile sarcoma penis sarcoma sarcoma of penis sarcoma of the penis penile sarcoma MONDO:0001388 A malignant neoplasm involving the glans penis. cancer of glans penis glans penis cancer malignant glans penis neoplasm malignant neoplasm of glans penis malignant tumor of glans penis malignant tumour of glans penis glans penis cancer MONDO:0001389 congenital anomaly of coronary artery coronary artery abnormality coronary artery abnormality [ambiguous] coronary artery anomaly coronary artery anomaly, congenital congenital coronary artery anomaly MONDO:0001390 transient refractive change MONDO:0001391 A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules. indeterminate leprosy [group I] uncharacteristic leprosy indeterminate leprosy MONDO:0001392 monocular exotropia MONDO:0001393 peripheral focal chorioretinitis MONDO:0001394 chronic erythremia MONDO:0001395 macular keratitis MONDO:0001396 abnormal dark adaptation curve abnormal threshold of rods MONDO:0001397 Disease or trauma involving a single peripheral nerve in isolation, or out of proportion to evidence of diffuse peripheral nerve dysfunction. Mononeuropathy multiplex refers to a condition characterized by multiple isolated nerve injuries. Mononeuropathies may result from a wide variety of causes, including ischemia; traumatic injury; compression; connective tissue diseases; cumulative trauma disorders; and other conditions. mononeuropathy MONDO:0001398 Cancer or tumors of the ureter which may cause obstruction leading to hydroureter, hydronephrosis, and pyelonephritis. hematuria is a common symptom. ureteral tumor benign neoplasm of the ureter benign neoplasm of ureter benign tumor of the ureter benign tumor of ureter benign ureter neoplasm benign ureter tumor benign ureteral neoplasm benign ureteral tumor benign ureteric neoplasm ureter benign neoplasm ureteral benign neoplasm ureter benign neoplasm MONDO:0001399 A benign smooth muscle neoplasm arising from the ureter. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. leiomyoma of the ureter leiomyoma of ureter ureter leiomyoma ureteral leiomyoma ureter leiomyoma MONDO:0001400 A benign nerve sheath tumor composed of Schwann cells, occurring in the ureter. neurilemmoma of the ureter neurilemmoma of ureter schwannoma of the ureter ureter neurilemmoma ureter schwannoma ureteral neurilemmoma ureteral schwannoma schwannoma of ureter MONDO:0001401 malignant neoplasm of nipple and areola of female breast malignant neoplasm of nipple or areola of female breast female breast nipple and areola cancer MONDO:0001402 A primary or metastatic malignant neoplasm involving the vagina. Representative examples include carcinomas and sarcomas. vagina neoplasm vaginal tumor cancer of vagina malignant neoplasm of the vagina malignant neoplasm of vagina malignant tumor of the vagina malignant tumor of vagina malignant vagina neoplasm malignant vagina tumor malignant vaginal neoplasm malignant vaginal tumor vagina cancer vaginal cancer https://rarediseases.info.nih.gov/diseases/9348/vaginal-cancer MONDO:0001403 A malignant neoplasm involving the labium majora. cancer of labium majora labium majora cancer malignant labia majora neoplasm malignant labia majora tumor malignant labium majora neoplasm malignant neoplasm of labia majora malignant neoplasm of labium majora malignant neoplasm of the labia majora malignant tumor of labia majora malignant tumor of the labia majora labium majus cancer MONDO:0001404 An ulcerative pyoderma usually caused by group A beta-hemolytic streptococcal infection at the site of minor trauma. (Dorland, 27th ed) ecthyma MONDO:0001405 Dermatophytosis involving the stratum corneum of the skin of the groin and perianal area. Dhobie itch dermatophytosis of groin & perianal area dermatophytosis of groin and perianal area tinea cruris dermatophytosis of groin and perianal area MONDO:0001406 A benign or malignant neoplasm arising from a peripheral nerve or the perineural sheaths. PNS neoplasm PNS neoplasms PNS tumor neoplasm of PNS neoplasm of peripheral nerve neoplasm of peripheral nervous system neoplasm of the PNS neoplasm of the peripheral nerve neoplasm of the peripheral nervous system neoplasms, PNS neoplasms, peripheral nervous system peripheral nerve neoplasm peripheral nerve tumor peripheral nervous system neoplasm peripheral nervous system neoplasm (disease) peripheral nervous system tumor tumor of PNS tumor of peripheral nerve tumor of peripheral nervous system tumor of the PNS tumor of the peripheral nerve tumor of the peripheral nervous system CNS-excluded nervous sys. cancer nerve sheath neoplasm nerve sheath tumors peripheral nervous system neoplasm MONDO:0001407 A malignant neoplasm involving the trachea tracheal neoplasm Ca trachea cancer of trachea malignant neoplasm of the trachea malignant neoplasm of trachea malignant trachea neoplasm malignant trachea tumor malignant tracheal neoplasm malignant tracheal tumor malignant tumor of the trachea malignant tumor of trachea trachea cancer tracheal cancer MONDO:0001408 Neuropathy that is caused by inadequate blood supply. ischemic peripheral neuropathy ischemic neuropathy MONDO:0001409 An acute or chronic inflammatory disease affecting the esophageal wall. esophagitis (disease) esophagitis esophagitis (disease) esophagus inflammation inflammation of esophagus acute esophagitis esophagitis MONDO:0001410 Inflammation of the vagina due to thinning of the vaginal wall and decreased lubrication associated with reduced estrogen levels at menopause. atrophic vaginitis senile vaginitis postmenopausal atrophic vaginitis MONDO:0001411 A disease characterized by abnormal union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue. synostosis MONDO:0001412 conjunctival concretion MONDO:0001413 A tularemia that results in painful regional lymphadenopathy and an ulcerated skin lesion. ulceroglandular tularemia MONDO:0001414 A rare autosomal dominant inherited disorder characterized by the presence of small areas of increased density throughout the bones. osteopoikilosis (disease) osteopoikilosis osteopoikilosis (disease) osteopathia condensans disseminata spotted bones osteopoikilosis MONDO:0001415 Loss of testicular volume. testicular atrophy atrophy of testis MONDO:0001416 A primary or metastatic malignant neoplasm involving the female reproductive system. Representative examples include endometrial carcinoma, cervical carcinoma, ovarian carcinoma, uterine corpus leiomyosarcoma, adenosarcoma, malignant mixed mesodermal (mullerian) tumor, and gestational choriocarcinoma. cancer of female reproductive organ female reproductive cancer female reproductive organ cancer gynecologic cancer malignant female reproductive organ neoplasm malignant female reproductive system neoplasm malignant female reproductive system tumor malignant gynecologic neoplasm malignant gynecologic tumor malignant neoplasm of female genital organ malignant neoplasm of female reproductive organ malignant neoplasm of female reproductive system malignant neoplasm of the female reproductive system malignant tumor of female reproductive system malignant tumor of the female reproductive system female reproductive organ cancer MONDO:0001417 A rare lymphoma that arises from the trachea. Signs and symptoms include dyspnea, cough, wheezing, and stridor. lymphoma of the trachea lymphoma of trachea primary tracheal lymphoma trachea lymphoma tracheal lymphoma tracheal lymphoma MONDO:0001418 A rare malignant soft tissue neoplasm that arises from the trachea. sarcoma of the trachea sarcoma of trachea trachea sarcoma tracheal sarcoma trachea sarcoma MONDO:0001419 A rare squamous cell carcinoma that arises from the mucosal lining of the trachea. It usually grows as an intraluminal mass and later invades extraluminal structures. The majority of patients present with hemoptysis, coughing, dyspnea, or stridor. epidermoid carcinoma of the trachea epidermoid carcinoma of trachea squamous cell carcinoma of the trachea squamous cell carcinoma of trachea trachea epidermoid carcinoma trachea squamous cell carcinoma tracheal epidermoid carcinoma tracheal squamous cell carcinoma trachea squamous cell carcinoma MONDO:0001420 Benign and malignant neoplasms which arise from or metastasize to the trigeminal or fifth cranial nerve which provides sensory innervation to the face, oral cavity and sinuses and the muscles of mastication. Clinical features may include facial pain or sensory loss or weakness of jaw closure. cranial nerve V neoplasms cranial nerve V tumors fifth cranial nerve neoplasm fifth cranial nerve tumor neoplasm of fifth cranial nerve neoplasm of the fifth cranial nerve neoplasm of the trigeminal nerve neoplasm of trigeminal nerve neoplasms, cranial nerve V trigeminal nerve neoplasm trigeminal nerve neoplasm (disease) trigeminal nerve neoplasms trigeminal nerve tumor trigeminal nerve tumors tumor of fifth cranial nerve tumor of the fifth cranial nerve tumor of the trigeminal nerve tumor of trigeminal nerve tumors, cranial nerve V trigeminal nerve neoplasm MONDO:0001421 A neoplasm involving a frontal lobe. frontal lobe neoplasm (disease) frontal lobe tumor neoplasm of frontal lobe neoplasm of the frontal lobe tumor of frontal lobe tumor of the frontal lobe malignant neoplasm of frontal lobe frontal lobe neoplasm MONDO:0001422 An endocrine disorder characterized by excessive production of aldosterone by the adrenal glands. Causes include adrenal gland adenoma and adrenal gland hyperplasia. The overproduction of aldosterone results in sodium and water retention and hypokalemia. Patients present with high blood pressure, muscle weakness, and headache. Conn syndrome Conn's syndrome primary aldosteronism primary hyperaldosteronism Editor note: DOID class refers to adenoma-caused Conn syndrome primary aldosteronism MONDO:0001423 drug-induced mental disorder MONDO:0001426 A neurofibroma that arises from the posterior mediastinum. Excision is usually curative. mediastinal neurofibroma mediastinum neurofibroma neurofibroma of mediastinum neurofibroma of the mediastinum mediastinum neurofibroma MONDO:0001427 Dieulafoy lesion is an abnormally large artery (a vessel that takes blood from the heart to other areas of the body) in the lining of the gastrointestinal system. It is most common in the stomach but can occur in other locations, including the small and large intestine. Dieulafoy lesions can cause severe and sudden gastrointestinal bleeding. The condition occurs in people of all ages, but is more common in males than in females.Depending upon the site of the bleeding, symptoms may include vomiting up blood (hematemesis); sticky, dark-colored stools (melena); passage of fresh blood in the stool (hematochezia); or coughing up blood (hemoptysis). Some affected individuals may only present with blood pressure problems. Treatment may include endoscopic and/or surgical techniques. Though treatment can be effective, Dieulafoy lesions and the associated blood loss can be fatal, especially if not diagnosed and treated promptly. Dieulafoy lesion (hemorrhagic) of intestine Dieulafoy lesion (hemorrhagic) of stomach and duodenum Dieulafoy disease Dieulafoy's lesion Exulceratio simplex Dieulafoy Dieulafoy lesion https://rarediseases.info.nih.gov/diseases/10930/dieulafoy-lesion MONDO:0001428 pylorospasm MONDO:0001429 Arthropathy that is not permanent. transient arthropathy involving forearm transient arthropathy involving hand transient arthropathy involving lower leg transient arthropathy involving multiple sites transient arthropathy involving pelvic region and thigh transient arthropathy involving shoulder region transient arthropathy involving upper arm transient arthropathy MONDO:0001430 deep vascularization of cornea deep corneal vascularisation MONDO:0001431 A disease with basis in optic nerve damage secondary to a toxic substance and/or nutritional deficiency. nutritional optic neuropathy toxic or nutritional optic neuropathy MONDO:0001433 A non-neoplastic or neoplastic disorder that affects the vagina. Representative examples include vaginal infection, vaginal polyp, and vaginal squamous cell carcinoma. disease of vagina disease or disorder of vagina disorder of vagina vagina disease vagina disease or disorder vaginal disease vaginal disorder vaginal disorder MONDO:0001434 inflammatory spondylopathies in disease EC inflammatory spondylopathies in disease classified elsewhere inflammatory spondylopathy in disease classified elsewhere inflammatory spondylopathy MONDO:0001435 bullous retinoschisis MONDO:0001436 Accumulation of iron in internal organs. haemosiderosis hemosiderosis https://rarediseases.info.nih.gov/diseases/6595/hemosiderosis MONDO:0001437 A rare lung disorder characterized by the filling of the pulmonary alveoli with proteinaceous material which stains positive with periodic acid-Schiff stain. It may be idiopathic or secondary due to hematologic malignancies or the inhalation of mineral dusts. Signs and symptoms include dyspnea, cough and low grade fever. PAP pulmonary alveolar proteinosis pulmonary alveolar proteinosis MONDO:0001438 post-inflammatory pulmonary fibrosis postinflammatory pulmonary fibrosis postinflammatory pulmonary fibrosis MONDO:0001439 episcleritis periodica fugax MONDO:0001440 neurotrophic keratoconjunctivitis MONDO:0001441 An eating disorder characterized by the persistent eating of nonnutritive substances such as clay or soil; this behavior must be inappropriate to the level of the individual's development. Pica Pica eating disorder pica disease MONDO:0001442 A chronic mood disorder in which the symptoms are similar to, though milder than, those diagnosed in depression. dysthymia dysthymic disorder MONDO:0001443 The formation of dense connective tissue in the tympanic membrane that does not necessarily cause or lead to loss of hearing. tympanosclerosis MONDO:0001444 A parasitic infection caused by Trypanosoma cruzi. It is transmitted by insect bites. It is characterized by an acute and chronic phase; in the acute phase patients may have fever, malaise, and swelling at the site of the insect bite. In the chronic phase patients develop hepatosplenomegaly, lymphadenopathy, cardiomyopathy and arrhythmias. Chagas disease Chagas' disease Chagas' disease with digestive system involvement Chagas' disease with nervous system involvement Chagas' disease with other organ involvement Trypanosoma cruzi caused disease or disorder Trypanosoma cruzi disease or disorder Trypanosoma cruzi infectious disease infection by trypanosoma cruzi American trypanosomiasis Chagas-mazza disease infection caused by trypanosoma cruzi south American trypanosomiasis Chagas disease MONDO:0001446 hyperactivity of bladder hypertonic bladder hypertonicity of bladder low bladder compliance low compliance bladder MONDO:0001447 detrusor sphincter dyssynergia (disease) detrusor sphincter dyssynergia detrusor sphincter dyssynergia (disease) detrusor sphincter dyssynergia MONDO:0001449 A form of meningitis caused by lymphocytic choriomeningitis virus. mice and other rodents serve as the natural hosts, and infection in humans usually occurs through inhalation or ingestion of infectious particles. Clinical manifestations include an influenza-like syndrome followed by stiff neck, alterations of mentation, ataxia, and incontinence. Maternal infections may result in fetal malformations and injury, including neonatal hydrocephalus, aqueductal stenosis, chorioretinitis, and microcephaly. (From Joynt, Clinical Neurology, 1996, Ch26, pp1-3) lymphocytic meningitis LCM lymphocytic choriomeningitis mammarenavirus caused infectious meningitis lymphocytic choriomeningitis mammarenavirus infectious meningitis lymphocytic choriomeningitis virus encephalomyelitis lymphocytic meningoencephalitis lymphocytic choriomeningitis MONDO:0001451 Degeneration of the peripheral retina. peripheral degeneration of retina peripheral retinal Degeneration peripheral retinal degeneration MONDO:0001452 secondary pigmentary degeneration of retina secondary pigmentary retinal degeneration pseudoretinitis pigmentosa MONDO:0001453 Senile reticular degeneration of retina senile reticular retinal degeneration MONDO:0001454 Blessig cysts Iwanoff's cysts Microcystoid degeneration of retina Microcystoid retinal degeneration Blessig's cysts MONDO:0001455 palisade degeneration of retina retinal lattice degeneration MONDO:0001456 paving stone degeneration of retina paving stone retinal degeneration cobblestone retinal degeneration MONDO:0001457 secondary vitreoretinal degeneration MONDO:0001458 A peripheral nerve lesion that involves the ulnar nerve. lesion of ulnar nerve peripheral nerve lesion of ulnar nerve ulnar nerve peripheral nerve lesion Editor note: todo DP for lesions ulnar nerve lesion MONDO:0001459 Disease involving the radial nerve. Clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. Sensation may be impaired over regions of the dorsal forearm. Common sites of compression or traumatic injury include the axilla and radial groove of the humerus. peripheral neuropathy of radial nerve radial nerve peripheral neuropathy radial neuropathy MONDO:0001460 dyshormonogenic goiter MONDO:0001461 A dermatophyte disease of the glabrous skin, excluding the scalp, beard, face, hands, feet, and groin. dermatophytosis of the body dermatophytosis of the trunk tinea corporis MONDO:0001462 A malignant neoplasm involving the descending colon. Ca descending colon cancer of descending colon descending colon cancer malignant descending colon neoplasm malignant neoplasm of descending colon malignant neoplasm of left colon malignant tumor of descending colon descending colon cancer MONDO:0001463 A malignant neoplasm involving the splenic flexure of colon. Ca splenic flexure - colon cancer of splenic flexure of colon malignant neoplasm of splenic flexure malignant neoplasm of splenic flexure of colon malignant splenic flexure of colon neoplasm malignant tumor of splenic flexure splenic flexure of colon cancer splenic flexure cancer MONDO:0001464 A malignant neoplasm involving the sigmoid colon. Ca sigmoid colon cancer of sigmoid colon malignant neoplasm of sigmoid colon malignant sigmoid colon neoplasm malignant tumor of sigmoid colon sigmoid colon cancer sigmoid colon cancer MONDO:0001465 superficial keratitis MONDO:0001466 Thygeson superficial punctate keratitis Thygeson's superficial punctate keratitis punctate keratitis punctate epithelial keratoconjunctivitis MONDO:0001468 plica syndrome synovial plica of knee synovial plica syndrome MONDO:0001469 hourglass stricture or stenosis of stomach cascade stomach MONDO:0001470 A squamous cell carcinoma arising from the perianal skin. anal margin squamous cell carcinoma perianal skin squamous cell carcinoma squamous cell carcinoma of anal margin squamous cell carcinoma of the anal margin anal margin squamous cell carcinoma MONDO:0001471 An infectious meningitis caused by infection with Histoplasma capsulatum. Histoplasma capsulatum caused infectious meningitis Histoplasma capsulatum infectious meningitis histoplasmosis with meningitis histoplasmosis meningitis MONDO:0001472 A lymphoma that arises from the testis and is not associated with lymphoma in another anatomic site. lymphoma of testis lymphoma of the testis malignant lymphoma of testis primary testicular lymphoma testicular lymphoma TLYM testicular lymphoma MONDO:0001473 medulloadrenal hyperfunction MONDO:0001474 Chronic form of salpingo-oophoritis. chronic salpingitis and oophoritis chronic salpingitis/oophoritis chronic salpingo-oophoritis salpingo-oophoritis, chronic chronic salpingo-oophoritis MONDO:0001475 A decrease in the number of neutrophils found in the blood. neutropenia neutropenic disorder neutropenia MONDO:0001476 An abnormality in which a part of a structure in one or both eyes is missing. coloboma of eye coloboma of the eye ocular coloboma coloboma of macula congenital ocular coloboma coloboma MONDO:0001478 A condition of an inequality of refractive power of the two eyes. anisometropia (disease) anisometropia anisometropia (disease) anisometropia MONDO:0001479 A usually mild form of diphtheria characterized by infection of the skin by corynebacterium diphtheria and the resulting formation of a chronic, shallow ulcer that is sometimes bordered or followed by a bulla. cutaneous diphtheria cutaneous diphtheria MONDO:0001480 malignant neoplasm of retained testis malignant neoplasm of undescended testis malignant tumor of retained testis malignant tumor of undescended testis MONDO:0001481 A thrombophlebitis that involves the femoral vein. femoral vein thrombophlebitis phlebitis and thrombophlebitis of femoral vein phlebitis and thrombophlebitis of femoral vein (deep) (superficial) thrombophlebitis of deep femoral vein thrombophlebitis of femoral vein thrombophlebitis of the femoral vein femoral vein thrombophlebitis MONDO:0001482 A myeloid or more commonly lymphoid leukemia (acute or chronic) affecting the testis. Microscopically, there is interstitial infiltration of the testis by leukemic cells. Acute lymphoblastic leukemia with testicular involvement is not uncommon in boys. Sometimes (up to 10% of the cases), testicular involvement may be the initial manifestation of relapsed acute lymphoblastic leukemia. --03 testicular leukemia testicular leukemia MONDO:0001484 A subtype of schizophrenia characterized by prominent delusions (typically persecutory or grandiose) or hallucinations in the context of a relative preservation of cognitive functioning and affect. chronic paranoid schizophrenia paranoid type schizophrenia paranoid type schizophrenia subchronic state paraphrenia - late paraphrenic schizophrenia paranoid schizophrenia MONDO:0001485 A mood disorder that is characterized by mood reactivity (paradoxical anhedonia) and positivity, significant weight gain or increased appetite ("comfort eating"), excessive sleep or somnolence (hypersomnia), a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection. atypical depression atypical depressive disorder MONDO:0001487 A cancer that involves the intrahepatic bile duct. Ca intrahepatic bile ducts cancer of intrahepatic bile duct malignant intrahepatic bile duct neoplasm malignant neoplasm of intrahepatic bile duct malignant neoplasm of intrahepatic bile ducts malignant neoplasm of intrahepatic biliary passages intrahepatic bile duct cancer MONDO:0001488 anterior corneal pigmentations anterior corneal pigmentation MONDO:0001490 A stromal corneal dystrophy that is caused by mutation(s) in the TGFBI gene. granular corneal dystrophy corneal granular dystrophy MONDO:0001491 An asthma that is characterized by chronic nonproductive cough without shortness of breath. cough variant asthma MONDO:0001492 kyphoscoliotic heart disease MONDO:0001493 Heart disease which occurs as a result of a primary pulmonary disease. Cor pulmonale most often manifests as right ventricular hypertrophy; it can also lead to right ventricular failure. Cor pulmonale chronic pulmonary heart disease MONDO:0001495 Hemorrhage into a canal or cavity of the body, such as the space covered by the serous membrane (tunica vaginalis) around the testis leading to testicular hematocele or scrotal hematocele. hematocele male hematocele hematocele of tunica vaginalis testis MONDO:0001496 stricture of male genital organs male genital organ stricture MONDO:0001497 vascular disorder of male genital organs male genital organ vascular disease MONDO:0001498 A condition characterized by the dilated tortuous veins of the spermatic cord with a marked left-sided predominance. Adverse effect on male fertility occurs when varicocele leads to an increased scrotal (and testicular) temperature and reduced testicular volume. scrotal varices scrotum varicose disease varicose disease of scrotum varicocele MONDO:0001499 A lymphoma that involves the retroperitoneal space. lymphoma of retroperitoneal space primary retroperitoneal lymphoma retroperitoneal lymphoma retroperitoneal space lymphoma retroperitoneal lymphoma MONDO:0001500 A disorder characterized by a strong and persistent cross-gender identification (such as stating a desire to be the other sex or frequently passing as the other sex) coupled with persistent discomfort with his or her sex (manifested in adults, for example, as a preoccupation with altering primary and secondary sex characteristics through hormonal manipulation or surgery). gender identity disorder MONDO:0001501 A sarcoma involving a retroperitoneal space. retroperitoneal sarcoma retroperitoneal space sarcoma sarcoma of retroperitoneal space retroperitoneal sarcoma MONDO:0001502 A carcinoma that arises from epithelial cells of the retroperitoneal space. retroperitoneal cancer carcinoma of retroperitoneal space carcinoma of retroperitoneum carcinoma of the retroperitoneum retroperitoneal carcinoma retroperitoneal space carcinoma retroperitoneum carcinoma MONDO:0001503 primary hypotony of eye primary eye hypotony MONDO:0001504 A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the use of nonliving objects such as women's wearing apparel (the "fetish"). fetishism MONDO:0001505 Acute hepatitis resulting from ingestion of alcohol. acute alcoholic Hepatitis acute alcoholic hepatitis acute alcoholic liver disease alcoholic Hepatitis alcoholic hepatitis alcoholic hepatitis MONDO:0001506 prostatocystitis MONDO:0001507 An labyrinthitis caused by infection with Viruses. Viruses caused labyrinthitis Viruses labyrinthitis epidemic vertigo epidemic vertigo (finding) viral labyrinthitis MONDO:0001508 A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection. patulous eustachian tube MONDO:0001509 Progressive inflammation and damage to tissues around the eyes, especially extraocular muscle, connective, and fatty tissue occurring in patients with hyperthyroidism or a history of hyperthyroidism due to Graves’ disease. https://github.com/monarch-initiative/mondo/issues/5472 Graves’ eye disease Graves’ ophthalmopathy Graves’ orbitopathy TED thyroid eye disease thyroid-associated ophthalmopathy endocrine exophthalmos MONDO:0001510 lateral displacement of globe lateral displacement of eye MONDO:0001511 thyrotoxic exophthalmos MONDO:0001512 intermittent exophthalmos intermittent proptosis MONDO:0001513 pulsating exophthalmos MONDO:0001514 Prolapse of the urethral mucosa from the exterior urethral opening. urethrocele prolapse of urethra MONDO:0001515 corneal degeneration MONDO:0001516 Spinal muscular atrophy (SMA) refers to a group of inherited conditions that affect the muscles. The severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. In general, people with SMA experience progressive weakness and atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. Breathing and swallowing may also be affected in severe cases. SMA is generally caused by changes (mutations) in the SMN1 gene and is inherited in an autosomal recessive manner. Extra copies of the SMN2 gene modify the severity of SMA. Rare autosomal dominant (caused by mutations in DYNC1H1, BICD2, or VAPB genes) and X-linked (caused by mutations in UBA1) forms of SMA exist. Treatment is based on the signs and symptoms present in each person. spinal muscular atrophy https://rarediseases.info.nih.gov/diseases/7674/spinal-muscular-atrophy MONDO:0001517 Acute inflammation of the intestine associated with infectious diarrhea of various etiologies, generally acquired by eating contaminated food containing toxins, biological derived from bacteria or other microorganisms. Dysentery is characterized initially by watery feces then by bloody mucoid stools. It is often associated with abdominal pain; fever; and dehydration. https://github.com/monarch-initiative/mondo/issues/3703 diarrheal disease, infectious dysenteric diarrhea infectious diarrhea infectious diarrheal disease infectious diarrheal diseases infective diarrhea dysentery MONDO:0001518 spastic entropion MONDO:0001519 The turning inward (inversion) of the edge of the eyelid, with the tarsal cartilage turned inward toward the eyeball. (Dorland, 27th ed) entropion (disease) entropion entropion (disease) entropion MONDO:0001520 A disorder characterized by the recurrent failure to resist the impulse to steal items of little intrinsic value; the individual experiences a rising subjective sense of tension before the theft and a sense of gratification or relief during the theft. kleptomania pathological stealing kleptomania MONDO:0001521 A disorder characterized by recurrent episodes of serious assaultive acts or destruction of property due to a failure to resist aggressive impulses; the degree of aggression during these episodes is grossly out of proportion to any psychosocial provocation. The aggressive episodes are not etiologically linked to another mental disorder, a general medical condition, or substance use. explosive personality disorder intermittent explosive disorder MONDO:0001522 A disorder characterized by a fascination with fire and recurrent episodes of fire setting during which the individual experiences a rising subjective sense of tension before the fire setting and a sense of gratification or relief when setting the fire. There is no ulterior motive (such as monetary gain or the expression of political ideology) to the fire setting. firesetting behavior pathological firesetting pyromania MONDO:0001523 luxation of eye luxation of globe MONDO:0001525 disorder of thyrocalcitonin secretion thyrocalcitonin secretion disease MONDO:0001526 A malignant neoplasm that affects the labia minora. cancer of labium minora labium minora cancer malignant labia minora neoplasm malignant labia minora tumor malignant labium minora neoplasm malignant neoplasm of labia minora malignant neoplasm of labium minora malignant neoplasm of labium minus malignant neoplasm of the labia minora malignant tumor of labia minora malignant tumor of the labia minora labia minora cancer MONDO:0001527 palsy of conjugate gaze conjugate gaze palsy MONDO:0001528 A primary or metastatic malignant neoplasm involving the vulva. neoplasm of vulva vulval neoplasm Ca vulva cancer of mammalian vulva malignant mammalian vulva neoplasm malignant neoplasm of mammalian vulva malignant neoplasm of the vulva malignant neoplasm of vulva malignant neoplasm of vulva unspecified malignant neoplasm of vulva, unspecified malignant tumor of the vulva malignant tumor of vulva malignant vulva neoplasm malignant vulva tumor malignant vulvar neoplasm malignant vulvar tumor mammalian vulva cancer vulval cancer vulvar cancer vulva cancer MONDO:0001529 A finding of low numbers of red and white blood cells and platelets in the peripheral blood. pancytopenia MONDO:0001530 hyperparathyroidism due to renal insufficiency secondary hyperparathyroidism (of renal origin) secondary hyperparathyroidism of renal origin MONDO:0001531 A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood. blood coagulation disorder coagulation defect coagulation disorder coagulation disorder, blood coagulation disorders, blood coagulopathy disorder, blood coagulation disorders, blood coagulation postpartum coagulation defect postpartum coagulation defect with delivery blood coagulation disease MONDO:0001532 A infectious disease involving the Capillaria. Capillaria infection infections, Capillaria capillariasis MONDO:0001533 pes anserinus tendinitis or bursitis MONDO:0001534 hyperemia eye hyperemia of conjunctiva ocular hyperemia MONDO:0001535 A disease involving the vagus nerve. Vagus nerve disorder disease of vagus nerve disease or disorder of vagus nerve disorder of pneumogastric [10th] nerve disorder of vagal nerve disorder of vagus nerve vagus nerve disease vagus nerve disease or disorder vagus nerve disorder MONDO:0001536 A benign smooth muscle neoplasm arising from the vagina. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. leiomyoma of the vagina leiomyoma of vagina vagina leiomyoma vaginal leiomyoma vaginal leiomyoma MONDO:0001537 An urogenital tuberculosis involving a pathogenic inflammatory response in the epididymis. tuberculous epididymitis MONDO:0001538 A ischemic disease that involves the retina. ischemic disease of retina retina ischemic disease retinal ischemia MONDO:0001539 A usually small tearing of the retina occurring when the vitreous separates from the retina. It may lead to retinal detachment. Symptoms include flashes and floaters. retinal break retinal dialysis retinal tear retinal perforation MONDO:0001540 An occupational lung disorder caused by inhalation of bagasse dust. In the acute phase, it manifests as cough, dyspnea, fever, chills, and weakness. Chronic exposure may lead to interstitial lung fibrosis. bagasse extrinsic allergic alveolitis bagasse workers lung extrinsic allergic alveolitis from bagasse sugar cane worker pneumonitis bagassosis MONDO:0001541 A peripheral nerve lesion that involves the plantar nerve. lesion of plantar nerve peripheral nerve lesion of plantar nerve plantar nerve peripheral nerve lesion plantar nerve lesion MONDO:0001542 A peripheral nerve lesion that involves the common fibular nerve. common fibular nerve peripheral nerve lesion peripheral nerve lesion of common fibular nerve common peroneal nerve lesion MONDO:0001543 A peripheral nerve lesion that involves the sciatic nerve. peripheral nerve lesion of sciatic nerve sciatic nerve peripheral nerve lesion lesion of sciatic nerve MONDO:0001544 Editor note: todo tibial nerve palsy MONDO:0001546 coccygeal hypermobility syndrome hypermobility of the coccyx hypermobility of coccyx MONDO:0001547 atrophic nonflaccid tympanic membrane MONDO:0001548 A syndrome characterized by central nervous system dysfunction in association with liver failure, including portal-systemic shunts. Clinical features include lethargy and confusion (frequently progressing to coma); asterixis; nystagmus, pathologic; brisk oculovestibular reflexes; decorticate and decerebrate posturing; muscle spasticity; and bilateral extensor plantar reflexes (see reflex, babinski). electroencephalography may demonstrate triphasic waves. (From Adams et al., Principles of Neurology, 6th ed, pp1117-20; Plum & Posner, Diagnosis of Stupor and Coma, 3rd ed, p222-5) hepatocerebral intoxication hepatic coma MONDO:0001549 Acute kidney injury associated with microangiopathic hemolytic anemia and thrombocytopenia. HUS haemolytic-uraemic syndrome hemolytic uremic syndrome acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells') hemolytic-uremic syndrome MONDO:0001551 ulceration of vulva vulvar ulceration ulceration of vulva MONDO:0001552 A wide group of related learning disorders characterized by difficulties with mathematics and manipulating numbers; the difficulty with math may be caused or exacerbated by visuo-spatial or language processing difficulties. dyscalculia (disease) disorder of arithmetical skills dyscalculia dyscalculia (disease) mathematics disorder dyscalculia MONDO:0001553 An abnormal condition characterized by an acute autoimmune reaction of the eye. It is caused by hypersensitivity of the eye to the protein of the crystalline lens and commonly follows trauma to the crystalline lens or cataract surgery. Associated symptoms include swelling and inflammation of the eye, severe pain, and blurred vision. The substance of the lens is invaded by polymorphonuclear cells and mononuclear phagocytes. Accurate diagnosis must differentiate between this condition and infectious endophthalmitis. Therapy is supportive and commonly includes the administration of corticosteroids and atropine. Refractory cases may require surgical removal of the lens. phacolytic glaucoma MONDO:0001554 Secondary glaucoma caused by either excessive size or spheric shape of the lens. phacomorphic glaucoma lens induced angle closure glaucoma lens swelling glaucoma phacogenic glaucoma MONDO:0001555 A hypermetabolic syndrome characterized by tachycardia, palpitations, tremor, weight loss, and moist skin that is caused by the elevation of thyroid hormone levels in the serum of the newborn infant or thyroid-axis receptor activation, most commonly due to transplacental passage of thyroid stimulating globulins. infantile hyperthyroidism neonatal thyrotoxicosis MONDO:0001556 Blockage of the normal flow of urine in the urethra. urethral obstruction (disease) obstruction of urethra urethral obstruction urethral obstruction (disease) urethral obstruction MONDO:0001557 A bursitis that involves the olecranon. Miners' elbow bursitis of elbow bursitis of elbow region bursitis of olecranon capped elbow elbow bursitis elbow bursitis (& olecranon) miner's elbow olecranon bursitis shoe boil olecranon bursitis MONDO:0001558 A rare, lethal congenital malformation characterized by bilateral renal agenesis and the absence or decreased volume of amniotic fluid (oligohydramnios). The presence of oligohydramnios gives rise to congenital anomalies that include hypoplastic lungs, lower extremities abnormalities, and characteristic facial features (low-set ears, widely separated eyes, nose flattening, and receding chin). Newborn infants usually die of respiratory failure. Potter syndrome Potter's sequence Potter's syndrome oligohydramnios sequence Editor note: check for subtypes, relationship to OMIM:263200 Potter sequence MONDO:0001559 perineocele MONDO:0001560 An abnormality characterized by thickening of the muscle in the wall of the pylorus. It results in the narrowing of the pyloric channel. The overlying mucosa may appear hypertrophic as well. Clinical signs and symptoms appear early in life and include projectile vomiting and dehydration. IHPS congenital Hypertrophy of the pylorus congenital constriction of the pylorus congenital hypertrophic pyloric stenosis congenital or infantile stricture of pylorus congenital pyloric stenosis congenital stricture of the pylorus infantile Hypertrophy of the pylorus infantile constriction of the pylorus infantile hypertrophic pyloric stenosis infantile pyloric stenosis infantile stricture of the pylorus pyloric stenosis, infantile hypertrophic pyloric stenosis MONDO:0001561 Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer. pyloric stenosis (disease) GOO gastric outflow obstruction gastric outlet obstruction pyloric stenosis pyloric stenosis (disease) pyloric stenosis MONDO:0001562 congenital hiatus hernia displacement of cardia through esophageal hiatus MONDO:0001563 A disease involving the vestibulocochlear nerve. acoustic nerve disease acoustic nerve disorder acoustic nerve disorder NOS disease of vestibulocochlear nerve disease or disorder of vestibulocochlear nerve disorder of acoustic nerve disorder of vestibulocochlear nerve vestibulocochlear nerve disease vestibulocochlear nerve disease or disorder vestibulocochlear nerve disorder disorder of acoustovestibular nerve disorder of eighth nerve disorder of the vestibulocochlear nerve vestibulocochlear nerve disorder MONDO:0001564 Any inability to efficiently utilize and/or sustain binocular vision. binocular vision disorder simultaneous visual perception without fusion binocular vision disease MONDO:0001565 abnormal retinal correspondence MONDO:0001566 Abnormally high concentration of calcium in the peripheral blood. hypercalcemia hypercalcemia disease MONDO:0001567 Nephrocalcinosis is a disorder that occurs when too much calcium is deposited in the kidneys. It commonly occurs in premature infants. Individuals may not have symptoms or may have symptoms related to thecondition causing nephrocalcinosis. If kidney stones are present, symptoms may include blood in the urine, fever and chills, nausea and vomiting, and severe pain in the belly area, sides of the back (flank), groin, or testicles. Later symptoms may be associated with chronic kidney failure. It may be caused by use of certain medications or supplements, infection, or any condition that leads to high levels of calcium in the blood or urine including hyperparathyroidism, renal tubular acidosis, Alport syndrome, Bartter syndrome,and a variety of other conditions. Some of the underlying disorders that can cause nephrocalcinosis are genetic, with the inheritance pattern depending on the specific disorder. Treatment differs depending on the cause of nephrocalcinosis and often aims to prevent more calcium from being deposited in the kidneys. hypercalcemic nephropathy nephrocalcinosis https://rarediseases.info.nih.gov/diseases/7177/nephrocalcinosis MONDO:0001568 A disorder characterized by an impairment in the development of an individual's expressive and receptive language capabilities which is in contrast to his/her nonverbal intellect. The impairment may be acquired (i.e., due to a brain lesion or head trauma) or developmental (i.e., no known neurological insult). mixed receptive-expressive language disorder MONDO:0001569 A type of benign brain tumor that begins in the Schwann cells, which produce the myelin that protects the acoustic nerve - the nerve of hearing. https://github.com/monarch-initiative/mondo/issues/4201 vestibular schwannoma (disease) acoustic tumor acoustic neurilemmoma acoustic neurilemoma acoustic neurinoma acoustic neuroma acoustic schwannoma neurilemoma, acoustic neurinoma of the acoustic nerve neuroma, acoustic vestibular neurilemmoma vestibular schwannoma vestibular schwannoma (disease) acoustic neuroma MONDO:0001571 Development of breast tissue in males. https://github.com/monarch-initiative/mondo/issues/4949 hypertrophy of breast of male organism male organism hypertrophy of breast gynecomastia disorder MONDO:0001572 A well-circumscribed benign smooth muscle neoplasm characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. fibroid fibroid neoplasm fibroid tumor leiomyoma leiomyoma, benign leiomyomatous neoplasm leiomyomatous neoplasm (morphologic abnormality) leiomyomatous tumor leiomyoma MONDO:0001574 A disease involving a capillary. capillary disease capillary disease or disorder disease of capillaries disease of capillary disease or disorder of capillary disorder of capillary capillary disorder MONDO:0001575 Chronic form of gonococcal salpingitis. gonococcal salpingitis gonococcal salpingitis, chronic chronic gonococcal salpingitis MONDO:0001576 Local dilatation of small vessels resulting in red discoloration of the skin or mucous membranes. telangiectasia telangiectasis MONDO:0001577 Infection with the respiratory syncytial virus, an RNA virus of the genus Pneumovirus, in the family Paramyxoviridae, which is characterized by the formation of syncytia in tissue culture. It causes minor respiratory infection with rhinitis and cough in adults, but is capable of causing severe bronchitis and bronchopneumonia in young children. Human respiratory syncytial virus infection respiratory syncytial virus infection infections, Human respiratory syncytial virus respiratory syncytial virus infectious disease MONDO:0001579 corneal staphyloma MONDO:0001580 A primary or metastatic malignant neoplasm affecting the lacrimal duct. cancer of lacrimal drainage system lacrimal drainage system cancer malignant lacrimal drainage system neoplasm malignant lacrimal duct neoplasm malignant lacrimal duct tumor malignant neoplasm of lacrimal drainage system malignant neoplasm of lacrimal duct malignant neoplasm of the lacrimal duct malignant tumor of lacrimal duct malignant tumor of the lacrimal duct lacrimal duct cancer MONDO:0001582 cicatricial ectropion MONDO:0001583 diabetes mellitus with polyneuropathy polyneuropathy in diabetes diabetic polyneuropathy MONDO:0001584 disorder of eye movements eye movement disorder ocular motility disease MONDO:0001585 A substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences. hallucinogen abuse MONDO:0001586 The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome). Alpha-L-iduronidase deficiency MPS I - Hurler syndrome MPS1 MPSI iduronidase deficiency disease lipochondrodystrophy mucopolysaccharidosis type 1 mucopolysaccharidosis type I mucopolysaccharidosis, MPS-I mucopolysaccharidosis, type 1 Hurler syndrome Hurler syndrome (subtype) Hurler-Scheie syndrome (subtype) IDUA deficiency MPS 1 MPS I Scheie syndrome (subtype) formerly known as Mucopoly-saccharidosis type V) attenuated MPS I (subtype, includes Hurler-Scheie and Scheie syndrome) mucopolysaccharidosis I severe MPS I (subtype, also known as Hurler syndrome) mucopolysaccharidosis type 1 MONDO:0001588 chronic enlargement of lacrimal gland chronic lacrimal gland enlargement MONDO:0001590 Paralysis of all four limbs. bilateral diplegia tetraplegia quadriplegia MONDO:0001591 involutional entropion senile entropion MONDO:0001592 Editor note: requires review prolapse of female genital organ MONDO:0001593 A disease that involves the rectum. disease of rectum disease or disorder of rectum disorder of rectum rectal disorder rectum disease rectum disease or disorder rectal disorder MONDO:0001594 An bursitis involving a pathogenic inflammatory response in the calcaneal tendon. Achilles bursitis or tendinitis Haglund's deformity Haglund's disease capped hock Achilles bursitis MONDO:0001595 A neurological condition affecting the involuntary movements. It is characterized by brief, non-repetitive irregular muscle contractions. It is seen in patients with Huntington's disease. benign familial chorea BHC chorea, benign hereditary hereditary benign chorea hereditary progressive chorea without dementia Bch hereditary chorea choreatic disease MONDO:0001596 A somatoform disorder in which an individual is preoccupied with having a serious illness despite not having been given a corroborating diagnosis. hypochondria hypochondriacal disorder hypochondriacal neurosis hypochondriasis MONDO:0001597 A disease involving the submandibular gland. disease of submandibular gland disease or disorder of submandibular gland disorder of submandibular gland submandibular gland disease submandibular gland disease or disorder submandibular gland disorder MONDO:0001598 A benign lesion that involves the salivary glands, usually the parotid gland. It affects females more often than males and it may be a manifestation of autoimmune diseases such as Sjogren syndrome. There is an increased incidence of benign lymphoepithelial lesions in HIV-positive patients. It is characterized by the presence of a marked lymphocytic infiltrate and epi-myoepithelial islands in the affected salivary gland. Patients usually present with firm and painless swelling of the affected salivary gland. There is an increased risk for development of lymphoma. Godwin tumor benign lymphoepithelial lesion of salivary gland benign lymphoepithelial lesion of the salivary gland benign salivary gland lymphoepithelial lesion benign lymphoepithelial lesion of salivary gland MONDO:0001600 A benign cyst located in the salivary gland that is lined by epithelium and filled with mucoid fluid, tissue, or other material; it is usually caused by duct obstruction. mucous retention cyst of salivary gland ranula salivary cyst salivary gland mucocele mucocele of salivary gland MONDO:0001601 An malaria caused by infection with Plasmodium ovale. Malariaby Plasmodium ovale ovale malaria Plasmodium ovale malaria MONDO:0001602 A carcinoma that arises from the labia minora. labia minora cancer carcinoma of labia minora carcinoma of labium minora carcinoma of the labia minora labia minora carcinoma labium minora carcinoma labia minora carcinoma MONDO:0001603 paralytic lagophthalmos (disease) paralytic lagophthalmos paralytic lagophthalmos (disease) paralytic lagophthalmos MONDO:0001604 lagophthalmos MONDO:0001606 Leukemia infiltrating the central nervous system structures. CNS leukemia central nervous system leukemia central nervous system leukemia (disease) leukemia (disease) of central nervous system leukemia of CNS leukemia of central nervous system leukemia of the CNS leukemia of the central nervous system central nervous system leukemia MONDO:0001607 leukemic reticuloendotheliosis involving intrapelvic lymph nodes leukemic reticuloendotheliosis of intrapelvic lymph nodes intrapelvic lymph node leukemic reticuloendotheliosis MONDO:0001608 A neoplasm involving a vagus nerve. Vagus nerve neoplasm Vagus nerve neoplasms Vagus nerve tumor Vagus nerve tumors Xth cranial nerve neoplasms Xth cranial nerve tumors neoplasm of Vagus nerve neoplasm of tenth cranial nerve neoplasm of the Vagus nerve neoplasm of the tenth cranial nerve neoplasm of vagus nerve tenth cranial nerve neoplasm tenth cranial nerve neoplasms tenth cranial nerve tumor tenth cranial nerve tumors tumor of Vagus nerve tumor of tenth cranial nerve tumor of the Vagus nerve tumor of the tenth cranial nerve tumor of vagus nerve vagus nerve neoplasm (disease) vagus nerve tumor vagus nerve neoplasm MONDO:0001609 A decrease in the number of mature granulocytes (neutrophils, eosinophils, and basophils) in the peripheral blood. Granulocytopenic disorder Granulopenia granulocytopenia agranulocytosis MONDO:0001610 Acute form of dacryocystitis. dacryocystitis - acute dacryocystitis, acute acute dacryocystitis MONDO:0001611 phlegmonous dacryocystitis MONDO:0001612 A narrowing of the carotid artery lumen. It is usually caused by the formation of an atherosclerotic plaque. Symptoms are usually present when there is severe narrowing or obstruction of the arterial lumen and manifest as ischemic cerebrovascular accidents. carotid artery stenosis stenosis, carotid artery carotid stenosis MONDO:0001613 Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the brain stem; cerebellum; occipital lobe; medial temporal lobe; and thalamus. Characteristic clinical features include syncope; lightheadedness; visual disturbances; and vertigo. brain stem infarctions or other brain infarction may be associated. vertebro-basilar insufficiency vertebrobasilar arterial insufficiency vertebrobasilar artery syndrome vertebrobasilar insufficiency vertebrobasilar insufficiency MONDO:0001614 malignant mast cell tumors involving intra-abdominal lymph nodes mast cell malignancy of intra-abdominal lymph nodes intra-abdominal lymph node mast cell malignancy MONDO:0001615 Keratoconjunctivitis resulting from infection by adenoviruses. EKC shipyard eye epidemic keratoconjunctivitis MONDO:0001616 A chronic, fungal, subcutaneous infection endemic in rural regions in South America and Central America. The causal organism is Lacazia labol. cutaneous lobomycosis infection by Loboa loboi cutaneous blastomycosis lobomycosis MONDO:0001617 A condition characterized by sudden, temporary, usually short-lived memory loss, not associated with a neurologic disorder. Affected individuals lose memory function for recent events and have a decreased ability to retain new information. It is usually a solitary event. transient global amnesia (disease) transient global amnesia transient global amnesia (disease) transient global amnesia MONDO:0001618 balanoposthitis MONDO:0001620 An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected lice; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated. Relapsing fever, louse-borne louse-borne relapsing fever MONDO:0001621 An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected ticks; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated. Relapsing fever, tick-borne tick-borne relapsing fever MONDO:0001622 mechanical lagophthalmos MONDO:0001623 cicatricial lagophthalmos (disease) cicatricial lagophthalmos cicatricial lagophthalmos (disease) cicatricial lagophthalmos MONDO:0001624 Acute form of sphenoid sinusitis. acute sphenoid sinusitis sphenoid sinusitis, acute sphenoidal sinus -acute acute sphenoidal sinusitis MONDO:0001625 A ovarian cyst (disease) that involves the corpus luteum. corpus luteum ovarian cyst (disease) ovarian cyst (disease) of corpus luteum corpus luteum cyst MONDO:0001626 glaucoma associated with ocular trauma traumatic glaucoma MONDO:0001627 Loss of intellectual abilities interfering with an individual's social and occupational functions. Causes include Alzheimer's disease, brain injuries, brain tumors, and vascular disorders. dementia (disease) dementia dementia (disease) dementia MONDO:0001628 A fungal infection of the nail, usually caused by dermatophytes; yeasts; or nondermatophyte molds. cellulitis and abscess of buttock cellulitis and abscess of face cellulitis and abscess of finger cellulitis and abscess of finger and toe cellulitis and abscess of gluteal region cellulitis and abscess of trunk cellulitis and abscess of upper arm and forearm dermatophytic onychia dermatophytic onychomycosis dermatophytosis of nail nail dermatophytosis onychomycosis onychomycosis due to dermatophyte tinea unguium cellulitis and abscess tinea unguium MONDO:0001629 Jaccoud syndrome Jaccoud's syndrome Jaccoud syndrome MONDO:0001630 An occlusion of a branch of the retinal artery. https://github.com/obophenotype/human-phenotype-ontology/issues/4266 arterial retinal branch occlusion retinal arterial branch occlusion branch retinal artery occlusion MONDO:0001631 A syndrome which occurs as a result of the occlusion of one of the vertebral arteries. It may be caused by atherosclerosis, embolism or hemorrhage. Collateral circulation through the circle of Willis is usually comprised as well. Clinical signs may include vertigo, nystagmus, dysarthria, ataxia and sensorimotor deficits. Clinical course may lead to persistence of neurologic deficits. Prognosis is variable with a substantial risk for recurrent infarction. vertebral artery syndrome vertebral artery insufficiency MONDO:0001632 Vascular diseases characterized by thickening and hardening of the walls of arteries inside the skull. There are three subtypes: (1) atherosclerosis with fatty deposits in the arterial intima; (2) Monckeberg's sclerosis with calcium deposits in the media and (3) arteriolosclerosis involving the small caliber arteries. Clinical signs include headache; confusion; transient blindness (amaurosis fugax); speech impairment; and hemiparesis. intracranial arteriosclerosis MONDO:0001633 Blockage of the central retinal artery. central retinal arterial occlusion central retinal artery occlusion MONDO:0001634 A well-circumscribed benign smooth muscle neoplasm arising from the bladder. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. bladder leiomyoma leiomyoma of bladder leiomyoma of the bladder leiomyoma of the urinary bladder leiomyoma of urinary bladder urinary bladder leiomyoma bladder leiomyoma MONDO:0001635 A rare, benign neoplasm of bladder that is composed of papillary cores with overlying histologically benign squamous epithelium. bladder squamous papilloma bladder squamous papilloma MONDO:0001636 mechanical entropion MONDO:0001637 cicatricial entropion MONDO:0001638 anemia due to protein deficiency protein-deficiency anemia MONDO:0001639 deficiency anemias unspecified deficiency anemia deficiency anemia MONDO:0001640 An spondylitis caused by infection with Neisseria gonorrhoeae. gonococcal spondylitis MONDO:0001641 Preeclampsia with a systolic blood pressure of 160 mmHg or higher, or a diastolic blood pressure of 110 mmHg or higher on two occasions at least 4 hours apart while on bedrest. It is associated with thrombocytopenia (platelets less than 100,000 per microliter), impaired liver function (twice normal elevation of hepatic transaminases; severe, persistent right upper quadrant or epigastric pain), progressive renal insufficiency (serum creatinine greater than 1.1 mg/dL or doubling of baseline in the absence of other renal disease), pulmonary edema, or new-onset cerebral or visual disturbances. Preeclampsia with severe features antepartum severe pre-eclampsia postpartum severe pre-eclampsia severe pre-eclampsia, with delivery severe preeclampsia severe pre-eclampsia MONDO:0001642 A hordeolum that results from obstruction and infection of an eyelash follicle and adjacent glands of Zeis or Moll glands. Follicle obstruction may be associated with blepharitis. external stye hordeolum externum MONDO:0001643 exophthalmic ophthalmoplegia MONDO:0001644 Inflammation of the glomeruli status post infection with nephritogenic streptococci, most often group A beta hemolytic streptococcus. acute glomerulonephritis with lesion of proliferative glomerulonephritis post-streptococcal glomerulonephritis proliferative glomerulonephritis, acute acute proliferative glomerulonephritis MONDO:0001645 A histopathologic term for a pattern of diseases characterized by extensive crescent formation in the glomeruli; patients present clinically with rapid deterioration of renal function, and possible progression to end-stage renal failure within weeks or months. crescentic glomerulonephritis (disease) crescentic glomerulonephritis crescentic glomerulonephritis (disease) crescentic glomerulonephritis MONDO:0001646 Mild to moderate high blood pressure that is caused by an underlying medical condition. benign secondary hypertension MONDO:0001647 benign renovascular hypertension MONDO:0001648 Esophagitis resulting from Candida. Candida esophagitis candidal esophagitis candidiasis of the esophagus esophageal moniliasis esophageal thrush esophageal candidiasis MONDO:0001649 Infection of the esophagus caused by fungi, most often candida albicans and candida tropicalis. It usually affects patients with immunodeficiency disorders or diabetes mellitus. Symptoms include dysphagia and pain on swallowing. fungal esophagitis fungal esophagitis MONDO:0001650 An acute infection of the bladder. It is usually caused by bacteria. Signs and symptoms include increased frequency of urination, pain or burning during urination, fever, cloudy or bloody urine, and suprapubic pain. acute cystitis (disease) acute cystitis acute cystitis (disease) cystitis, acute acute cystitis MONDO:0001651 A rare squamous cell carcinoma that arises from the scrotum. It has been associated with exposure to environmental and industrial carcinogens. The prognosis depends on the extent of lymph node involvement. scrotal squamous cell carcinoma scrotum squamous cell carcinoma squamous cell carcinoma of the scrotum squamous cell carcinoma of scrotum scrotum squamous cell carcinoma MONDO:0001652 A melanoma (disease) that involves the scrotum. melanoma (disease) of scrotum melanoma of scrotum melanoma of the scrotum scrotal melanoma scrotum melanoma (disease) scrotum melanoma MONDO:0001653 A malignant neoplasm involving the prepuce. cancer of prepuce malignant neoplasm of foreskin malignant neoplasm of prepuce malignant prepuce neoplasm malignant tumor of foreskin prepuce cancer prepuce cancer MONDO:0001654 A malignant neoplasm involving the spermatic cord. cancer of spermatic cord malignant neoplasm of spermatic cord malignant neoplasm of the spermatic cord malignant spermatic cord neoplasm malignant spermatic cord tumor malignant tumor of spermatic cord malignant tumor of the spermatic cord spermatic cord Ca spermatic cord cancer spermatic cord cancer MONDO:0001655 dissociated nystagmus dissociated nystagmus MONDO:0001656 An abnormal dilation of the esophagus not due to obstruction. megaesophagus MONDO:0001657 A primary or metastatic malignant neoplasm affecting the brain. brain neoplasm tumor of the brain brain cancer brain neoplasms, malignant cancer of brain cancer of the brain malignant brain neoplasm malignant brain tumor malignant brain tumour malignant neoplasm of brain malignant neoplasm of the brain malignant tumor of brain malignant tumor of the brain primary malignant neoplasm of brain adult brain tumor adult malignant brain neoplasm malignant primary brain neoplasm malignant primary brain tumor malignant tumor of adult brain BT - brain tumour brain neoplasm, adult brain tumor, adult neoplasm of unspecified nature of brain primary brain neoplasm primary brain tumor brain cancer MONDO:0001658 Sporadic enlargement of the thyroid gland that is not associated with changes in thyroid function or malignancy. Nodule-thyroid, non tox euthyroid goiter goiter, non-toxic goitre, non-toxic non-toxic goiter non-toxic goitre non-toxic simple goitre nontoxic goiter nontoxic goiter MONDO:0001660 Advanced retinopathy due to diabetes mellitus characterized by the formation of new vessels in the retina. The new vessels are abnormal and fragile. If hemorrhage occurs due to the vascular fragility, there is increased risk of vision loss or blindness. proliferative diabetic retinopathy MONDO:0001661 An early stage of diabetic retinopathy that is characterized by retinal hemorrhage and exudate, but without proliferation of the blood vessels. non proliferative diabetic retinopathy non-proliferative diabetic retinopathy background diabetic retinopathy MONDO:0001663 macular cyst or hole macular cyst, hole, or pseudohole of retina macular pseudohole retinal cyst hole retinal cyst MONDO:0001664 submucous leiomyoma of uterus submucous uterine fibroid MONDO:0001665 A tularemia that results in inflammation of eye and swelling of lymph glands in front of the ear. oculoglandular tularemia MONDO:0001666 A retinal dystrophy with etiology arising from Bruch's membrane, the site of drusen generation. Bruch's membrane inherited retinal dystrophy inherited retinal dystrophy of Bruch's membrane retinal dystrophies primarily involving Bruch membrane Editor note: This class originated in DO from ICD9, it is not in ICD10 and does not appear to be a general grouping retinal dystrophies primarily involving Bruch's membrane MONDO:0001667 infection caused by streptobacillus streptobacillus infection streptobacillus infectious disease MONDO:0001668 internal pathologic resorption internal resorption of tooth internal granuloma of pulp internal pathological resorption internal resorption of crown of tooth pathological tooth resorption - internal pink spot lesion of tooth pink tooth of mummery internal pathological resorption of tooth MONDO:0001670 Resorption of calcified dental tissue, involving demineralization due to reversal of the cation exchange and lacunar resorption by osteoclasts. There are two types: external (as a result of tooth pathology) and internal (apparently initiated by a peculiar inflammatory hyperplasia of the pulp). (From Jablonski, Dictionary of Dentistry, 1992, p676) tooth resorption MONDO:0001671 Accumulation of mucus within the appendix. Appendicele mucocele appendiceal mucocele mucocele of the appendix mucocele of appendix MONDO:0001672 A malignant neoplasm involving the bronchus bronchus cancer cancer of bronchus malignant bronchus neoplasm malignant neoplasm of bronchus malignant neoplasm of bronchus and lung malignant neoplasm of bronchus and lung, unspecified malignant neoplasm of bronchus or lung bronchus cancer MONDO:0001673 The condition of having at least three loose or liquid bowel movements each day. diarrhea diarrheal disease diarrheal disorder diarrhoea frequent stools loose stools diarrhea of presumed infectious origin diarrheal disease MONDO:0001674 Inflammation of the colonic diverticula, generally with abscess formation and subsequent perforation. colon diverticulitis colonic diverticular disease diverticulitis of colon MONDO:0001676 A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. Signs and symptoms include painful cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas, erythrodontia, red discoloration of urine, hemolytic anemia, and splenomegaly. EPP (erythropoietic protoporphyria porphyria) protoporphyria erythropoietic protoporphyria MONDO:0001678 A tuberculosis that involves the intestine. intestine tuberculosis tuberculosis of intestine intestinal tuberculosis MONDO:0001680 A benign papilloma that arises from the vagina in infants and young women. vaginal Muellerian papilloma vaginal Mullerian papilloma vaginal Müllerian papilloma vaginal mullerian papilloma MONDO:0001681 A cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder. diphtheritic cystitis MONDO:0001682 A peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae. diphtheritic peritonitis MONDO:0001683 pancreatic mucinous ductal ectasia MONDO:0001684 Inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine. Patients present with symptoms of malabsorption syndrome, abdominal discomfort, and bloating. Causes include chronic pancreatitis, cystic fibrosis, and autoimmune disorders. exocrine pancreatic insufficiency exocrine pancreas insufficiency pancreatic insufficiency exocrine pancreatic insufficiency MONDO:0001685 chronic follicular conjunctivitis MONDO:0001686 anatomical narrow angle borderline glaucoma MONDO:0001687 cataract - diabetic diabetic cataract MONDO:0001688 Editor note: todo - grouping class toxic optic neuropathy MONDO:0001689 tongue papillary hypertrophy hypertrophy of tongue papillae MONDO:0001690 parasitic conjunctivitis MONDO:0001691 A malignant neoplasm involving the laryngeal cartilage. cancer of laryngeal cartilage laryngeal cartilage cancer malignant laryngeal cartilage neoplasm malignant neoplasm of laryngeal cartilage malignant neoplasm of laryngeal cartilages malignant tumor of laryngeal cartilage laryngeal cartilage cancer MONDO:0001692 A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving sexual activity with a prepubescent child or children. Paedophilia pedophilia MONDO:0001693 A gender identity disorder that is characterized by having a sexual orientation or an attraction that is at odds with one's idealized self-image, causing anxiety and a desire to change one's orientation or become more comfortable with one's sexual orientation. ego-dystonic sexual orientation MONDO:0001694 diffuse interstitial keratitis MONDO:0001695 involutional ectropion senile ectropion MONDO:0001697 A learning disability involving difficulty reading resulting primarily from neurological factors which affect any part of the reading process. reading disorder MONDO:0001698 A dermatophytosis that involves the deep dermal layers. granuloma trichophyticum Majocchi's granuloma deep seated dermatophytosis tinea profunda MONDO:0001699 A dermatophytosis that involves the hands. Tinea manus dermatophytosis of hand dermatophytosis of manus manus dermatophytosis tinea manuum MONDO:0001700 Anemia characterized by the presence of unusually large erythroblasts in the bone marrow called megaloblasts. It is usually caused by vitamin B12 or folic acid deficiency. Other causes include toxins and drugs. megaloblastic anemia (disease) Grasbeck-Imerslund syndrome MGA1 Norwegian type RH-MGA1 megaloblastic anemia megaloblastic anemia (disease) recessive hereditary megaloblastic anemia 1 IGS megaloblastic anemia MONDO:0001701 An anthrax disease that results in infection located in mucosa of gastrointestinal tract, has material basis in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite. gastrointestinal anthrax MONDO:0001702 A carcinoma that arises from the labia majora. carcinoma of labia majora carcinoma of labium majora carcinoma of the labia majora labia majora cancer labia majora carcinoma labium majora carcinoma labia majora carcinoma MONDO:0001703 The absence of or defect in the perception of colors. blindness color color vision defects color vision deficiency color-vision disease colour blindness colour vision deficiency color blindness color vision disorder MONDO:0001704 A benign or malignant neoplasm that arises from the vagina and is characterized by the presence of neoplastic glandular epithelial cells. Representative examples include adenoma, endometrioid adenocarcinoma, and clear cell adenocarcinoma. vagina glandular cell neoplasm vaginal glandular neoplasm vaginal glandular tumor vaginal glandular neoplasm MONDO:0001705 A disease characterized by normocytic, normochromic anemia, low hematocrit, reticulocytopenia, and selective erythroid hypoplasia. PRCA primary red cell aplasia pure red cell aplasia red cell hypoplasia pure red-cell aplasia MONDO:0001706 Sarcoidosis of the cerebrum. cerebral sarcoidosis sarcoidosis of telencephalon telencephalon sarcoidosis cerebral sarcoidosis MONDO:0001707 Sarcoidosis affecting the tissues of the heart. heart sarcoidosis sarcoidosis of heart cardiac sarcoidosis MONDO:0001708 Sarcoidosis affecting the lung parenchyma. It is characterized by the presence of non-necrotizing granulomas in the lung tissues. It is manifested with dyspnea, cough, fever, night sweats, fatigue, and weight loss. lung sarcoidosis sarcoidosis of lung pulmonary sarcoidosis MONDO:0001709 Sarcoidosis with a complication of hypercalcemia. hypercalcemic sarcoidosis MONDO:0001710 A rupture in the wall of the extrahepatic or intrahepatic bile duct due to traumatic or pathologic processes. perforation of bile duct MONDO:0001711 Hepatic encephalopathy is a syndrome observed in some patients with cirrhosis. It is defined as a spectrum of neuropsychiatric abnormalities in patients with liver dysfunction, when other known brain disease has been excluded.Signs and symptomsmay be debilitating, and they can begin mildly and gradually, or occur suddenly and severely. They may includepersonality or moodchanges, intellectual impairment, abnormal movements,a depressed level of consciousness, and other symptoms.There are several theories regarding the exact cause, butdevelopment of the condition isprobablyat least partiallydue to the effect of substances that are toxic to nerve tissue (neurotoxic), which are typically present with liver damage and/or liver disease. Treatment depends upon the severity of mental status changes and upon the certainty of the diagnosis. portal-systemic encephalopathy Hepatoencephalopathy encephalopathy, hepatic hepatic encephalopathy https://rarediseases.info.nih.gov/diseases/10452/hepatic-encephalopathy MONDO:0001712 A receptive visual aphasia characterized by the loss of a previously possessed ability to comprehend the meaning or significance of handwritten words, despite intact vision. This condition may be associated with posterior cerebral artery infarction (infarction, posterior cerebral artery) and other brain diseases. https://github.com/monarch-initiative/mondo/issues/4484 aphemesthaesia Blindnesses, acquired Word Word Blindnesses, acquired Word blindness, acquired acquired Word Blindnesses acquired Word blindness acquired alexia acquired dyslexia acquired global dyslexia acquired reading disabilities acquired reading disability acquired spelling dyslexia alexia, acquired blindness, acquired Word disabilities, acquired reading disability, acquired reading dyslexia, acquired global dyslexia, acquired spelling global dyslexia, acquired reading disabilities, acquired reading disability, acquired spelling dyslexia, acquired alexia MONDO:0001713 An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes leukopenia and thrombocytopenia. constitutional aplastic anemia hereditary aplastic anemia rare constitutional aplastic anemia congenital aplastic anemia congenital hypoplastic anemia constitutional aplastic anaemia hypoplastic anemia - familial In DO this is classified as idiopathic; however, ORDO classifies idiopathic as acquired which leads to an inconsistency inherited aplastic anemia MONDO:0001714 A chronic skin and tissue disease caused by infection by the endemicum subspecies of the spirochete Treponema pallidum. Njovera Treponema pallidum subsp. endemicum caused disease or disorder Treponema pallidum subsp. endemicum disease or disorder Treponema pallidum subsp. endemicum infectious disease nonvenereal endemic syphilis Dichuchwa Frenga endemic syphilis nonvenereal syphilis bejel https://rarediseases.info.nih.gov/diseases/5905/bejel MONDO:0001715 basilar artery occlusion MONDO:0001716 argentous corneal deposits argyrosis of cornea corneal argyrosis MONDO:0001717 posterior corneal pigmentations posterior corneal pigmentation MONDO:0001718 Inflammation of the sclera. scleritis (disease) scleritis scleritis (disease) scleritis MONDO:0001719 An bursitis caused by infection with Neisseria gonorrhoeae. Neisseria gonorrhoeae bursitis Neisseria gonorrhoeae caused bursitis gonococcal bursitis MONDO:0001720 An synovitis (disease) caused by infection with Neisseria gonorrhoeae. gonococcal synovitis &/or tenosynovitis gonococcal synovitis and tenosynovitis gonococcal synovitis or tenosynovitis gonococcal synovitis MONDO:0001721 intrinsic (urethral) sphincter deficiency [ISD] urethral intrinsic sphincter deficiency MONDO:0001722 central pterygium MONDO:0001723 progressive peripheral pterygium MONDO:0001724 A malignant neoplasm that affects the supraglottic area of the larynx. The vast majority of cases are squamous cell carcinomas. supraglottis Ca larynx - supraglottis cancer of supraglottic part of larynx malignant neoplasm of extrinsic larynx malignant neoplasm of supraglottic part of larynx malignant neoplasm of supraglottis malignant neoplasm of the supraglottis malignant supraglottic neoplasm malignant supraglottic part of larynx neoplasm malignant supraglottic tumor malignant supraglottis neoplasm malignant supraglottis tumor malignant tumor of supraglottis malignant tumor of the supraglottis supraglottic part of larynx cancer supraglottis cancer MONDO:0001725 A chronic and progressive inflammatory process that affects the glans penis and the foreskin. It presents with white atrophic patches in the glans of penis and foreskin and it is often associated with the development of a sclerotic, whitish ring in the tip of the foreskin that may lead to phimosis. It is also known as lichen sclerosus of the penis. lichen Sclerosus of penis lichen Sclerosus of the penis penile lichen Sclerosus balanitis xerotica obliterans MONDO:0001727 active Meniere's disease, cochleovestibular active cochleovestibular Meniere disease active cochleovestibular Meniere's disease cochleovestibular active Mnire's disease active cochleovestibular Meniere disease MONDO:0001728 active Meniere's disease, vestibular active vestibular Meniere disease active vestibular Meniere's disease vestibular active Mnire's disease active vestibular Meniere disease MONDO:0001729 active Meniere's disease, cochlear active cochlear Meniere disease active cochlear Meniere's disease cochlear active Mnire's disease active cochlear Meniere disease MONDO:0001730 urethral syndrome MONDO:0001731 A non-metastasizing neoplasm that arises from the vagina and is characterized by the presence of benign epithelial and benign mesenchymal elements. benign vaginal mixed epithelial and mesenchymal neoplasm benign vaginal mixed epithelial and mesenchymal tumor benign vaginal carcinosarcoma benign vaginal mixed epithelial and mesenchymal neoplasm MONDO:0001732 Inflammation of the trigone of the urinary bladder. inflammation of trigone of urinary bladder trigone of urinary bladder inflammation trigonitis MONDO:0001733 venous tributary (branch) occlusion of retina venous tributary branch occlusion of retina venous tributary occlusion of retina occlusion of tributary of retinal vein MONDO:0001734 Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade. https://github.com/monarch-initiative/mondo/issues/1489 Bourneville syndrome Bourneville's disease Bourneville's syndrome Epiloia TSC cerebral sclerosis tuberose sclerosis tuberous sclerosis tuberous sclerosis complex tuberous sclerosis syndrome Bourneville Phacomatosis Bourneville disease Bourneville phakomatosis Bourneville pringle disease Bourneville pringle's disease Bourneville-Pringles disease Bourneville-pringle disease Bourneville-pringle's disease Phacomatosis, Bourneville adenoma sebaceum adenoma sebaceum syndrome bourneville's disease cerebral Scleroses disease, Bourneville-pringle disease, Bourneville-pringle's phakomatosis, Bourneville sclerosis Tuberosa sclerosis, cerebral sclerosis, tuberose sclerosis, tuberous syndrome, Bourneville syndrome, Bourneville's ts - tuberous sclerosis tuberous sclerosis Complex tuberous sclerosis MONDO:0001735 A disease involving the paranasal sinus. disease of paranasal sinus disease or disorder of paranasal sinus disorder of nasal sinus disorder of paranasal sinus paranasal sinus disease paranasal sinus disease or disorder paranasal sinus disorder sinus disorder paranasal sinus disorder MONDO:0001736 neonatal infective mastitis MONDO:0001737 A syndrome of generalized rigidity with muscle spasms and seizures in the neonatal period resulting from Clostridium tetani toxin production. neonatal tetanus tetanus neonatorum MONDO:0001739 A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma. bacterial labyrinthitis suppurative labyrinthitis acute suppurative labyrinthitis purulent labyrinthitis MONDO:0001740 A rare squamous cell carcinoma that arises from the cornea. cornea epidermoid carcinoma cornea squamous cell carcinoma corneal epidermoid carcinoma corneal squamous cell carcinoma epidermoid carcinoma of cornea epidermoid carcinoma of the cornea squamous cell carcinoma of cornea squamous cell carcinoma of the cornea cornea squamous cell carcinoma MONDO:0001741 Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary; primary hyperparathyroidism is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. Secondary hyperparathyroidism is caused by the chronic stimulation of the parathyroid glands in patients with chronic renal failure, rickets, and malabsorption syndromes. hyperparathyroidism hyperparathyroidism MONDO:0001742 angle-closure glaucoma, subacute intermittent angle-closure glaucoma prodromal angle closure glaucoma interval angle-closure glaucoma MONDO:0001743 A lymphoma that arises from the paranasal sinus. Representative examples include diffuse large B-cell lymphoma and extranodal NK/T-cell lymphoma, nasal type. accessory sinus lymphoma lymphoma of accessory sinus lymphoma of paranasal sinus lymphoma of the accessory sinus lymphoma of the paranasal sinus paranasal sinus lymphoma primary paranasal sinus lymphoma paranasal sinus lymphoma MONDO:0001744 The sudden increase of intraocular pressure, resulting in pain and an abrupt decrease in visual acuity. ACG - angle-closure glaucoma Narrow cleft glaucoma angle closure glaucoma primary open-angle glaucoma with narrow angles angle-closure glaucoma MONDO:0001745 subserous leiomyoma of uterus subserous uterine fibroid MONDO:0001746 Optic disk bodies composed primarily of acid mucopolysaccharides that may produce pseudopapilledema (elevation of the optic disk without associated intracranial hypertension) and visual field deficits. Drusen may also occur in the retina (see retinal drusen). (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p355) drusen of optic disc optic nerve head drusen optic disk drusen MONDO:0001747 tibial collateral ligament bursitis MONDO:0001748 A carcinoma that arises from the maxillary sinus. Representative examples include squamous cell carcinoma, adenocarcinoma, and adenoid cystic carcinoma. cancer of maxillary sinus carcinoma of maxillary sinus malignant maxillary sinus neoplasm malignant maxillary sinus tumor malignant neoplasm of antrum malignant neoplasm of maxillary sinus malignant neoplasm of the maxillary sinus malignant tumor of maxillary sinus malignant tumor of the maxillary sinus maxillary sinus cancer maxillary sinus carcinoma maxillary sinus carcinoma MONDO:0001749 A senile cataract that involves the lens cortex. cortical senile cataract lens cortex senile cataract senile cataract of lens cortex cortical senile cataract MONDO:0001750 non-renal secondary hyperparathyroidism MONDO:0001751 Impairment of the bile flow caused by obstruction within the liver, or outside the liver in the bile duct system. bile occlusion obstruction of bile duct cholestasis MONDO:0001752 A condition sometimes occurring after tooth extraction, particularly after traumatic extraction, resulting in a dry appearance of the exposed bone in the socket, due to disintegration or loss of the blood clot. It is basically a focal osteomyelitis without suppuration and is accompanied by severe pain (alveolalgia) and foul odor. (Dorland, 28th ed) alveolitis of jaw dry socket dry tooth socket extrinsic allergic alveolitis of jaw skeleton jaw skeleton extrinsic allergic alveolitis alveolar periostitis MONDO:0001753 infertility, female, of uterine origin female infertility of uterine origin MONDO:0001754 A potentially life-threatening pregnancy-related disorder characterized by tonic-clonic seizures in association with hypertension after the twentieth week of gestation and up to six weeks postpartum and in the absence of other potential causes of seizures. eclampsia in puerperium eclampsia, postpartum postpartum eclampsia eclampsia https://rarediseases.info.nih.gov/diseases/6316/eclampsia MONDO:0001756 A malignant neoplasm involving the frontal sinus. cancer of frontal sinus frontal sinus cancer malignant frontal sinus neoplasm malignant frontal sinus tumor malignant neoplasm of frontal sinus malignant neoplasm of the frontal sinus malignant tumor of frontal sinus malignant tumor of the frontal sinus frontal sinus cancer MONDO:0001757 A benign or malignant neoplasm that affects the frontal sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. frontal sinus neoplasm (disease) frontal sinus tumor neoplasm of frontal sinus neoplasm of the frontal sinus tumor of frontal sinus tumor of the frontal sinus frontal sinus neoplasm MONDO:0001758 A malignant soft tissue neoplasm that arises from the paranasal sinus. accessory sinus sarcoma paranasal sinus sarcoma sarcoma of accessory sinus sarcoma of paranasal sinus sarcoma of the accessory sinus sarcoma of the paranasal sinus paranasal sinus sarcoma MONDO:0001760 Injury to the cornea secondary to ultraviolet light. ultraviolet keratitis photokeratitis MONDO:0001761 A condition associated with glucose-6-phosphate dehydrogenase deficiency, which is characterized by hemolysis. favism MONDO:0001762 A tooth erosion, non-bacterial that involves the dentine. dentine tooth erosion, non-bacterial tooth erosion, non-bacterial of dentine dentine erosion MONDO:0001763 A malignant neoplasm involving the ethmoid sinus. cancer of ethmoid sinus ethmoid sinus cancer malignant ethmoid sinus neoplasm malignant ethmoid sinus tumor malignant ethmoidal sinus neoplasm malignant ethmoidal sinus tumor malignant neoplasm of ethmoid sinus malignant neoplasm of ethmoidal sinus malignant neoplasm of the ethmoid sinus malignant neoplasm of the ethmoidal sinus malignant tumor of ethmoid sinus malignant tumor of ethmoidal sinus malignant tumor of the ethmoid sinus malignant tumor of the ethmoidal sinus ethmoid sinus cancer MONDO:0001764 A benign or malignant neoplasm that affects the ethmoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. ethmoid sinus neoplasm ethmoid sinus neoplasm (disease) ethmoid sinus tumor ethmoidal sinus neoplasm ethmoidal sinus tumor neoplasm of ethmoid sinus neoplasm of ethmoidal sinus neoplasm of the ethmoid sinus neoplasm of the ethmoidal sinus tumor of ethmoid sinus tumor of ethmoidal sinus tumor of the ethmoid sinus tumor of the ethmoidal sinus ethmoidal sinus neoplasm MONDO:0001765 polyneuropathy in collagen vascular disease MONDO:0001766 eversion of lacrimal punctum MONDO:0001767 stenosis of lacrimal punctum MONDO:0001768 stenosis of lacrimal canaliculi stenosis of lacrimal passage MONDO:0001769 acquired nasolacrimal duct stenosis acquired stenosis of nasolacrimal duct stenosis of nasolacrimal duct, acquired tear duct - acquired stenosis acquired tear duct stenosis MONDO:0001770 gastrin secretion abnormality MONDO:0001771 infective urethral stricture MONDO:0001772 anal and rectal ulcer ulcer of anus and rectum MONDO:0001773 An acute or subacute inflammatory process of the central nervous system characterized histologically by multiple foci of perivascular demyelination. Symptom onset usually occurs several days after an acute viral infection or immunization, but it may coincide with the onset of infection or rarely no antecedent event can be identified. Clinical manifestations include confusion, somnolence, fever, nuchal rigidity, and involuntary movements. The illness may progress to coma and eventually be fatal. (Adams et al., Principles of Neurology, 6th ed, p921) encephalitis following immunization procedures postvaccinal encephalomyelitis post-vaccinal encephalitis MONDO:0001774 posterior scleritis MONDO:0001775 chronic duodenal ileus MONDO:0001776 A concretion in the prostate. Stone of prostate calculus of prostate lower urinary tract calculus of prostate gland prostate gland lower urinary tract calculus prostatic lithiasis prostatic stone prostate calculus MONDO:0001777 Acute form of gonococcal cystitis. acute gonorrhea of bladder gonococcal cystitis (acute) gonococcal cystitis, acute acute gonococcal cystitis MONDO:0001778 A benign hamartomatous tumor that possesses various epidermal derivatives and is due to sequestration of skin along the lines of embryonic closure. cutaneous dermoid cyst cystic skin teratoma dermoid cyst of skin dermoid cyst of skin (finding) dermoid cyst of the skin skin dermoid skin dermoid cyst subcutaneous dermoid cyst zone of skin dermoid cyst dermoid cyst of skin MONDO:0001779 A benign papillary neoplasm that arises from the vagina and is characterized by the presence of a fibrovascular stalk lined by normal squamous epithelium. There is no evidence of atypia or relation to human papillomavirus. squamous papilloma of the vagina squamous papilloma of vagina vagina squamous papilloma vaginal squamous papilloma vaginal squamous papilloma MONDO:0001780 A disorder characterized by persistent or recurrent ejaculation before or after penetration and before the person wishes it. premature ejaculation (disease) premature ejaculation premature ejaculation (disease) premature ejaculation MONDO:0001781 A benign mesothelial tumor of the serosal surface of the uterine body and myometrium. It is characterized by the presence of gland-like structures. body of uterus adenomatoid tumor uterine corpus adenomatoid tumor uterine corpus localized epithelial mesothelioma uterine corpus adenomatoid tumor MONDO:0001782 A cataract that produces swelling and opacity of the entire lens; cataracts are removed before maturity. total or mature cataract total, mature senile cataract May be ceded to HPO. Note current classification may be incorrect mature cataract MONDO:0001783 A non-infiltrating, benign mesenchymal neoplasm arising from the uterine corpus. It is characterized by the presence of neoplastic cells that resemble the cells of the proliferative phase of endometrial stroma and numerous thin-walled small vessels. It usually presents with abnormal uterine bleeding and menorrhagia. endometrial stromal nodule MONDO:0001784 malignant renal artery stenosis malignant renal hypertension malignant renovascular hypertension MONDO:0001785 malignant secondary hypertension MONDO:0001786 inflammatory disease of the uterus uterine inflammatory disease MONDO:0001787 https://github.com/monarch-initiative/mondo/issues/5537 infarct of liver hepatic infarction MONDO:0001788 chronic passive congestion of liver nutmeg liver MONDO:0001789 A neurofibroma that arises from the spinal cord. neurofibroma of spinal cord spinal cord neurofibroma neurofibroma of spinal cord MONDO:0001790 A benign adipose tissue neoplasm of the spinal cord. It is usually associated with dysraphism in which the intraspinal component communicates with a subcutaneous lipoma through a defect in the posterior elements of the spine. Non-dysraphic intramedullary spinal cord lipomas are very rare. lipoma of spinal cord spinal cord lipoma spinal cord lipoma MONDO:0001791 urinary tract infection of newborn neonatal urinary tract infectious disease MONDO:0001792 epiphora due to insufficient drainage MONDO:0001793 Profuse lacrimation. epiphora excessive tear production watering eye apparatus disease, lacrimal apparatus diseases, lacrimal disease, lacrimal apparatus diseases, lacrimal apparatus lacrimal apparatus disease excessive tearing MONDO:0001794 Infestation of the pubic hair by the pthirus pubis parasite which results in mild to intense itching and macular lesions. The parasite, also known as crab lice, is transmitted through skin to skin contact with an infected person or through direct contact with infested objects. Pediculus pubis Phthirus pubis Phthirus pubis [pubic louse] Phthirus/pediculus pubis - pubic lice - crabs Phthirus/pediculus pubis - pubic lice - crabs (& infestation) Pthirus pubis infection crabs infestation by Phthirus pubis pediculosis pubis phthiriasis phthiriasis pubis infections, Pthirus pubis Pthirus pubis infestation MONDO:0001795 A wart in the plantar surface of the foot. It is caused by human papillomavirus. plantar wart verruca plantaris plantar wart MONDO:0001797 Chancroid is a bacterial infection that is spread through sexual contact. It is caused by a type of bacteria called Haemophilus ducreyi. Chancroid is characterized by a small bump on the genital which becomes a painful ulcer. Men may have just one ulcer, but women often develop four or more.About half of the people who are infected with a chancroid will develop enlarged inguinal lymph nodes, the nodes located in the fold between the leg and the lower abdomen. In some cases, the nodes will break through the skin and cause draining abscesses. The swollen lymph nodes and abscesses are often called buboes. Chancroid infections can be treated with antibiotics, including azithromycin, ceftriaxone, ciprofloxacin, and erythromycin. Large lymph node swellings need to be drained, either with a needle or local surgery. Ulcus molle, skin Chancroids chancroid https://rarediseases.info.nih.gov/diseases/9522/chancroid MONDO:0001798 benign joint hypermobility hypermobility syndrome MONDO:0001799 anterior staphyloma, localized localized anterior staphyloma MONDO:0001800 equatorial staphyloma MONDO:0001801 staphyloma posticum MONDO:0001802 acute myringitis acute tympanitis MONDO:0001803 A tympanic membrane disease that is characterized by blisters on the eardrum resulting from infection. bullous myringitis myringitis bullosa hemorrhagica MONDO:0001804 anterior scleritis MONDO:0001805 malignant neoplasm of central part of female breast malignant neoplasm of central portion of female breast female breast central part cancer MONDO:0001806 A benign or malignant neoplasm that arises from the squamous epithelium of the vagina. Representative examples include condyloma acuminatum, squamous papilloma, and squamous cell carcinoma. vagina squamous cell neoplasm vaginal squamous neoplasm vaginal squamous tumor vaginal squamous tumor MONDO:0001808 chronic subinvolution of uterus MONDO:0001809 band of uterus intrauterine synechiae adhesions of uterus MONDO:0001810 A disease involving the hypoglossal nerve. disease of hypoglossal nerve disease or disorder of hypoglossal nerve disorder of 12th nerve disorder of XII nerve disorder of hypoglossal [12th] nerve disorder of hypoglossal nerve disorder of the XII nerve hypoglossal nerve disease hypoglossal nerve disease or disorder hypoglossal nerve disorder twelfth nerve disorder hypoglossal nerve disorder MONDO:0001811 A cataract resulting from hypocalcemia. hypocalcaemic cataract tetanic cataract MONDO:0001812 parasitic eyelid infestation parasitic infestation of eyelid parasitic eyelid infestation MONDO:0001813 squamous blepharitis MONDO:0001815 extrapyramidal and movement disease MONDO:0001816 scleritis with corneal involvement scleroperikeratitis MONDO:0001817 Acute form of angle-closure glaucoma. acute angle-closure glaucoma angle-closure glaucoma, acute acute closed-angle glaucoma MONDO:0001818 Neuralgic syndromes which feature chronic or recurrent facial pain as the primary manifestation of disease. Disorders of the trigeminal and facial nerves are frequently associated with these conditions. facial nerve neuralgia neuralgia of facial nerve facial neuralgia MONDO:0001819 multiple cranial nerve palsies multiple cranial nerve palsy MONDO:0001820 A labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. This is caused by a chronic suppurative otitis media, mastoiditis, or cholesteatoma. circumscribed labyrinthitis focal labyrinthitis MONDO:0001821 A disorder characterized by a recurrent or persistent lack of desire for sexual activity. The lack of sexual desire is not attributable to another psychiatric disorder or to the physiological effects of substance use or a general medical condition. lack or loss of sexual desire hypoactive sexual desire disorder MONDO:0001822 Conditions with abnormally low levels of lipoproteins in the blood. This may involve any of the lipoprotein subclasses, including alpha-lipoproteins (high-density lipoproteins); beta-lipoproteins (low-density lipoproteins); and prebeta-lipoproteins (very-low-density lipoproteins). hypolipoproteinemia (disease) hypolipoproteinaemia hypolipoproteinemia hypolipoproteinemia (disease) lipoprotein deficiencies hypolipoproteinemia MONDO:0001823 A constellation of signs and symptoms which may include syncope, fatigue, dizziness, and alternating periods of bradycardia and atrial tachycardia, which is caused by sinoatrial node dysfunction. SSS sinus node infection sick sinus syndrome MONDO:0001824 A disease or disorder affecting more than one nerve. polyneuropathy polyneuropathy MONDO:0001825 A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy. Most frequently it arises in the oral cavity, nasopharynx, larynx, esophagus, vagina, and vulva. epidermoid cell papilloma epidermoid papilloma keratotic papilloma papilloma, squamous cell, benign squamous cell papilloma squamous cell papilloma (morphologic abnormality) squamous papilloma squamous papilloma MONDO:0001827 A superficial mycosis due to T beigelii that is characterized by a soft, friable, beige nodule of the distal ends of hair shafts. Tinea blanca white piedra MONDO:0001828 Non-heritable difficulty in distinguishing colors. acquired color vision deficiencies acquired color vision deficiency acquired color vision disorder acquired color blindness MONDO:0001829 A nerve plexus disease that involves the lumbosacral nerve plexus. lumbosacral nerve plexus nerve plexus disease lumbosacral plexus lesions nerve plexus disease of lumbosacral nerve plexus lumbosacral plexus lesion MONDO:0001830 Disorders having the presence of physical symptoms that suggest a general medical condition but that are not fully explained by a another medical condition, by the direct effects of a substance, or by another mental disorder. The symptoms must cause clinically significant distress or impairment in social, occupational, or other areas of functioning. In contrast to factitious disorders and malingering, the physical symptoms are not under voluntary control. (apa, dsm-V) Briquet's disorder Somatisation disorder Polysomatising disorder somatization disorder MONDO:0001831 irregular astigmatism MONDO:0001832 An acute bacterial infection that affects the esophagus. Symptoms include severe pain on swallowing and retrosternal pain. Endoscopic examination reveals esophageal mucosal ulcerations and pseudomembranous formations. bacterial esophagitis bacterial esophagitis MONDO:0001833 Blockage of the tear duct. blocked lacrimal canaliculus obstruction of lacrimal canaliculus obstruction of lacrimal ducts lacrimal duct obstruction MONDO:0001834 A disorder of the neural pathway from the optic nerve to the visual cortex. disease of optic tract disease or disorder of optic tract disorder of optic tract optic tract disease optic tract disease or disorder visual pathway disorder optic tract disorder Editor note: see notes on uberon class, different sources are more or less inclusive on where the ends of the tract/pathway are. DO is very inclusive and includes entire visual cortex; NCIT does not include any subclasses. Consider using a more generic concept than optic tract visual pathway disorder MONDO:0001835 Severe or complete loss of facial muscle motor function. This condition may result from central or peripheral lesions. Damage to CNS motor pathways from the cerebral cortex to the facial nuclei in the pons leads to facial weakness that generally spares the forehead muscles. facial nerve diseases generally results in generalized hemifacial weakness. neuromuscular junction diseases and muscular diseases may also cause facial paralysis or paresis. face palsy facial palsy palsy of face facial paralysis MONDO:0001836 The absence of menses in a woman who has achieved reproductive age. amenorrhea (disease) absence of menstruation amenia amenorrhea amenorrhea (disease) amenorrhea MONDO:0001837 Acute form of gonococcal salpingitis. gonococcal salpingitis, acute gonococcal salpingitis, specified as acute acute gonococcal salpingitis MONDO:0001838 Acute form of gonococcal prostatitis. gonococcal prostatitis acute gonococcal prostatitis gonococcal prostatitis (acute) gonococcal prostatitis, acute acute gonococcal prostatitis MONDO:0001841 A morphologic variant of uterine corpus leiomyoma characterized by the presence of round or polygonal epithelioid smooth muscle cells forming clusters. uterine corpus epithelioid leiomyoma MONDO:0001842 A rare morphologic variant of uterine corpus leiomyoma. Macroscopically, it is characterized by large, fungating, and multinodular neoplasm masses arising from the uterine corpus, and extending into the broad ligament or the peritoneal cavity. Microscopically, it shows neoplastic smooth muscle cells infiltrating the myometrium. The neoplastic cells are arranged in a micronodular pattern. Hydropic changes and increased vascularity are also present. Cotyledonoid dissecting leiomyoma Sternberg tumor uterine corpus dissecting leiomyoma MONDO:0001843 intramural leiomyoma of uterus uterus interstitial leiomyoma MONDO:0001844 A morphologic variant of uterine corpus leiomyoma characterized by extensive myxoid degeneration of the neoplasm connective tissue stroma. uterine corpus myxoid leiomyoma MONDO:0001845 A rare morphologic variant of uterine corpus leiomyoma characterized by the presence of scattered islands of mature adipocytes within the smooth muscle neoplasm. uterine corpus lipomatous leiomyoma uterine corpus lipoleiomyoma MONDO:0001846 A morphologic variant of uterine corpus leiomyoma characterized by significant cytologic atypia. The atypical cells are large with pleomophic hyperchromatic nuclei. bizarre leiomyoma of body of uterus body of uterus bizarre leiomyoma uterine corpus Symplastic leiomyoma uterine corpus bizarre leiomyoma uterine corpus leiomyoma with bizarre nuclei uterine corpus leiomyoma, atypical variant uterine corpus bizarre leiomyoma MONDO:0001847 A senile cataract that involves the lens nucleus. Senile nuclear cataract Senile nuclear sclerosis lens nucleus senile cataract senile cataract of lens nucleus nuclear senile cataract MONDO:0001848 A form of hypermature cataract formed by liquefaction of the cortex and sinking of the dense nucleus to the bottom of the capsular bag. hypermature cataract Morgagnian cataract Morgagni cataract MONDO:0001849 chronic inflammation of orbit chronic orbital inflammation MONDO:0001850 malignant neoplasm of lower-outer quadrant of female breast female breast lower-outer quadrant cancer MONDO:0001851 primary lacrimal atrophy MONDO:0001852 A non-Hodgkin or Hodgkin lymphoma that arises from the small intestine. lymphoma of small bowel lymphoma of small intestine lymphoma of the small bowel lymphoma of the small intestine primary small intestinal lymphoma small bowel lymphoma small intestinal lymphoma small intestine lymphoma small intestine lymphoma MONDO:0001853 contact blepharoconjunctivitis MONDO:0001854 A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus. disease of lacrimal apparatus disease or disorder of lacrimal apparatus disorder of lacrimal apparatus disorder of lacrimal system lacrimal apparatus disease lacrimal apparatus disease or disorder lacrimal system disease lacrimal system disorder lachrymal system disorders lacrimal apparatus disorder MONDO:0001855 rubeosis iridis MONDO:0001856 splenic artery aneurysm MONDO:0001857 A brucellosis involving an infection caused by Brucella canis [NCBITaxon:36855] in dogs and humans. The disease has symptom fever, has symptom sweats, has symptom weakness, has symptom weight loss, has symptom headache, has symptom lymphadenopathy and has symptom splenomegaly. Brucella canis brucellosis MONDO:0001858 Idiopathic painful nonsuppurative swellings of one or more costal cartilages, especially of the second rib. The anterior chest pain may mimic that of coronary artery disease. Costalchondritis Costochondritis Tietze syndrome Tietze's disease Tietze's syndrome costochondral joint syndromic disease costochondral junction syndrome slipping rib syndrome syndromic disease of costochondral joint Chondropathia tuberosa Tietze syndrome MONDO:0001859 algoneurodystrophy MONDO:0001860 folate deficiency anemia folate-deficiency anemia folate-deficient megaloblastic anaemia folic acid deficiency anemia MONDO:0001861 primary malignant neoplasm of parietal pleura malignant parietal pleura tumor MONDO:0001862 primary malignant neoplasm of visceral pleura malignant visceral pleura tumor MONDO:0001863 An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta. atresia and stenosis of aorta congenital atresia and stenosis of aorta aorta atresia MONDO:0001864 residual stage of angle-closure glaucoma residual stage angle-closure glaucoma MONDO:0001866 A bipolar disorder that is characterized by at least one manic or mixed episode. bipolar 1 disorder bipolar I disorder bipolar I disorder MONDO:0001867 An opportunistic fungal infection caused by any of a variety of normally saprophytic fungi with hyaline hyphal elements. For example, Fusarium spp. infect neutropenic patients to cause pneumonia, fungemia, and disseminated infection with cutaneous lesions. infection by dematiacious fungi infection by dematiacious fungi [Phaehyphomycosis] phaehyphomycosis phaeohyphomycosis https://rarediseases.info.nih.gov/diseases/12803/phaeohyphomycosis MONDO:0001868 An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component. primary angle closure glaucoma primary angle-closure glaucoma MONDO:0001869 A malignant neoplasm involving the paraurethral gland. cancer of paraurethral gland malignant neoplasm of paraurethral gland malignant paraurethral gland neoplasm malignant tumor of paraurethral gland malignant tumor of the paraurethral gland paraurethral gland cancer paraurethral gland cancer MONDO:0001870 Acute post streptococcal glomerulonephritis is an immunologic response of the kidney to infection, characterized by the sudden appearance of edema, hematuria, proteinuria and hypertension. It is essentially a disease of childhood that accounts for approximately 90% of renal disorders in children. The disease occurs especially in children between the ages of 2 and 12 years and young adults, and more often in male than in female. post-streptococcal glomerulonephritis acute poststreptococcal glomerulonephritis MONDO:0001871 An acute inflammation of the glomeruli, in which all glomeruli are affected, resulting in acute renal failure. acute diffuse glomerulonephritis diffuse glomerulonephritis, acute acute diffuse nephritis acute diffuse glomerulonephritis MONDO:0001873 Diseases of the facial nerve or nuclei. Pontine disorders may affect the facial nuclei or nerve fascicle. The nerve may be involved intracranially, along its course through the petrous portion of the temporal bone, or along its extracranial course. Clinical manifestations include facial muscle weakness, loss of taste from the anterior tongue, hyperacusis, and decreased lacrimation. geniculate ganglion inflammation geniculate ganglionitis inflammation of geniculate ganglion geniculate ganglionitis MONDO:0001874 A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicyclic acid, amiodarone, quinine, cisplatinum, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic. ototoxicity toxic labyrinthitis MONDO:0001875 Inflammation of the lateral epicondyle. andrel epicondylitis archer's elbow ectepicondyle of humerus inflammation golfer's elbow hockey elbow inflammation of ectepicondyle of humerus lateral epicondylitis medial epicondylitis shooter's elbow tennis elbow epicondylitis MONDO:0001876 A atherosclerosis that involves the renal artery. atherosclerosis of renal artery renal artery atherosclerosis renal atherosclerosis renal artery atheroma MONDO:0001877 infertility due to extratesticular causes infertility due to extratesticular cause MONDO:0001878 An instance of hypertrophic pyloric stenosis that is acquired during the lifetime of the individual. acquired gastric outlet stenosis acquired hypertrophic pyloric stenosis adult hypertrophic pyloric stenosis acquired hypertrophic pyloric stenosis MONDO:0001879 A malignant neoplasm involving the anus anus cancer cancer of anus malignant anal neoplasm malignant anal tumor malignant anus neoplasm malignant neoplasm of anus malignant neoplasm of the anus malignant tumor of anus malignant tumor of the anus anus cancer MONDO:0001880 persistent tuberculum impar median rhomboid glossitis MONDO:0001881 A rare acute life-threatening systemic bacterial noncontagious illness caused by exotoxins from bacteria of either the Streptococcus pyogenes or Staphylococcus aureus type. It is characterized by high fever, hypotension, rash, multi-organ dysfunction, and cutaneous desquamation during the early convalescent period. The toxins affect the host immune system, causing an exuberant and pathological host inflammatory response. Laboratory findings include leukocytosis, elevated prothrombin time, hypoalbuminemia, hypocalcemia, and pyuria. TSS TSS, toxic shock syndrome bacterial TSS bacterial toxic-shock syndrome shock syndrome (TSS), toxic syndrome (TSS), toxic shock toxic shock toxic shock syndrome toxic shock syndrome, (TSS) staphylococcal toxic shock syndrome toxic shock syndrome MONDO:0001882 The presence of bacteria in the urine which is normally bacteria-free. These bacteria are from the urinary tract and are not contaminants of the surrounding tissues. Bacteriuria can be symptomatic or asymptomatic. Significant bacteriuria is an indicator of urinary tract infection. bacteriuria (disease) bacteriuria bacteriuria (disease) bacteriuria MONDO:0001883 A condition that is caused by recurring atheroembolism in the lower extremities. It is characterized by cyanotic discoloration of the toes, usually the first, fourth, and fifth toes. Discoloration may extend to the lateral aspect of the foot. Despite the gangrene-like appearance, blue toes may respond to conservative therapy without amputation. blue toe syndrome MONDO:0001884 A neoplasm involving a abducens nerve. VIth cranial nerve neoplasms VIth cranial nerve tumors abducens nerve neoplasm (disease) abducens nerve neoplasms abducens nerve tumor abducens nerve tumors neoplasm of abducens nerve neoplasm of sixth cranial nerve neoplasm of the abducens nerve neoplasm of the sixth cranial nerve sixth cranial nerve neoplasm sixth cranial nerve neoplasms sixth cranial nerve tumor sixth cranial nerve tumors tumor of abducens nerve tumor of sixth cranial nerve tumor of the abducens nerve tumor of the sixth cranial nerve abducens nerve neoplasm MONDO:0001885 lateral cystocele MONDO:0001886 midline cystocele MONDO:0001887 A syndrome characterized by laceration in the posterior leaf of broad ligament along with abnormally mobile cervix. Broad ligament laceration syndrome Masters-Allen syndrome Allen-Masters syndrome MONDO:0001888 A usually large cell non-Hodgkin lymphoma of B-cell phenotype, arising from the anus. Lymphomas originating from the anal region are rare in the general population, but they are seen with a higher frequency in HIV-positive patients, particularly homosexual men. anal lymphoma anus lymphoma lymphoma of anus lymphoma of the anus primary anal lymphoma anus lymphoma MONDO:0001889 The inability of the ovaries to function. ovarian failure ovarian hypofunction ovarian insufficiency ovarian dysfunction MONDO:0001890 A tooth erosion, non-bacterial that involves the dental pulp. dental pulp tooth erosion, non-bacterial tooth erosion, non-bacterial of dental pulp pulp erosion MONDO:0001892 A non-Hodgkin or Hodgkin lymphoma that arises in the spinal cord as a primary lesion. lymphoma of spinal cord lymphoma of the spinal cord primary spinal cord lymphoma spinal cord lymphoma spinal cord cancer spinal cord lymphoma MONDO:0001893 A melanoma (disease) that involves the spinal cord. melanoma (disease) of spinal cord melanoma of spinal cord melanoma of the spinal cord spinal cord melanoma spinal cord melanoma (disease) spinal cord melanoma MONDO:0001894 A sarcoma that arises from the spinal cord. sarcoma of spinal cord sarcoma of the spinal cord spinal cord sarcoma spinal cord sarcoma MONDO:0001895 Acute form of retrobulbar neuritis. retrobulbar neuritis (acute) retrobulbar neuritis, acute acute retrobulbar neuritis MONDO:0001896 An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of an obstruction at any location within the ventricular system that prevents cerebrospinal fluid flowing into the subarachnoid space. non-communicating hydrocephalus obstructive hydrocephalus MONDO:0001897 hyperactive bilateral labyrinthine dysfunction hyperactive labyrinth, bilateral bilateral hyperactive labyrinth MONDO:0001898 A disease involving the optic choroid. choroid disorder disease of optic choroid disease or disorder of optic choroid disorder of optic choroid optic choroid disease optic choroid disease or disorder choroid disease optic choroid disorder MONDO:0001899 congestive rheumatic heart failure rheumatic heart failure rheumatic heart failure (congestive) rheumatic congestive heart failure MONDO:0001901 A classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the four immunoglobulin class G (IgG) subclasses. Selective IgG1 deficiency is rare and primarily decreases the immune response to bacterial protein antigens. Selective IgG2 deficiency is the most common subclass deficiency among children and primarily leads to an inadequate response to bacterial polysaccharide antigens. Selective IgG3 deficiency is the most common subclass deficiency among adults and also primarily lowers the response to bacterial proteins. Selective IgG4 deficiency may be a clinically insignificant developmental variant, as IgG4 is a subclass that is virtually undetectable until the end of the first decade of life. Low levels of any IgG subclass will reduce the immune system's effectiveness and thus the clinical presentation of these diseases is usually recurrent infection, particularly by encapsulated bacteria. Immunoglobin G subclass deficiency selective Immunoglobulin G subclass deficiency selective deficiency of IgG selective immunoglobulin G deficiency selective IgG deficiency disease selective IgG immunodeficiency selective IgG subclass deficiency MONDO:0001902 An instance of agammaglobulinemia that is present from birth. congenital agammaglobulinemia congenital hypogammaglobulinaemia congenital hypogammaglobulinemia (finding) congenital agammaglobulinemia MONDO:0001903 calcific tendinitis MONDO:0001904 polyneuropathy due to drug MONDO:0001905 bicipital tenosynovitis MONDO:0001906 May be obsoleted as it represents a finding; TODO add HPO class posterior dislocation of lens MONDO:0001907 Dermatomyositis in an adult. adult onset dermatomyositis dermatomyositis of adults adult dermatomyositis MONDO:0001909 A group of genetic disorders of the kidney tubules characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis. Defective renal acidification of urine (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as hypokalemia, hypercalcinuria with nephrolithiasis and nephrocalcinosis, and rickets. renal tubular acidosis https://rarediseases.info.nih.gov/diseases/7552/renal-tubular-acidosis MONDO:0001910 A disorder characterized by bluish-black discoloration of the cartilaginous tissues due to accumulation of homogentisic acid. It is associated with alkaptonuria. Signs and symptoms include dark urine, skin pigmentation, and arthritis. ochronosis ochronosis disorder MONDO:0001911 Abnormal deposits of calcium in the tracheal tissue. calcification of trachea Editor note: consider ceding to HPO tracheal calcification MONDO:0001912 Acute form of frontal sinusitis. frontal sinusitis, acute acute frontal sinusitis MONDO:0001913 Decreased number of spermatozoa in the semen. oligospermia MONDO:0001914 A rare form of necrotizing anterior scleritis without pain in which the sclera is notably white, avascular and thin. Both choroidal exposure and staphyloma formation may occur. scleromalacia perforans MONDO:0001915 orbit cyst Divided into cysts of surface epithelium, teratomatous cysts, neural cysts, secondary cysts, inflammatory cysts, and noncystic lesions with cystic component. Cysts of the surface epithelium are further divided into simple epithelial cyst (epidermal, conjunctival, respiratory, and apocrine gland), and dermoid cyst (epidermal and conjunctival) [PMID:15110666] orbital cyst MONDO:0001916 A tularemia that results in formation of ulcerative lesions located in gastrointestinal tract. The infection has symptom fever, has symptom chills, has symptom malaise, has symptom muscle aches, and has symptom vomiting. enteric tularemia intestinal tularaemia gastrointestinal tularemia MONDO:0001917 Chronic form of perichondritis of auricle. chronic perichondritis of auricle chronic pinna perichondritis perichondritis of auricle, chronic chronic perichondritis of pinna MONDO:0001918 epiphora due to excess lacrimation MONDO:0001919 cystoid macular degeneration of retina cystoid macular retinal degeneration MONDO:0001920 Otitis media that persists for at least six weeks, and that is associated with otorrhea through a perforated tympanic membrane. CSOM chronic suppurative otitis Media chronic suppurative otitis media suppurative otitis media, chronic chronic purulent otitis media MONDO:0001921 A chronic purulent otitis media which involves perforation in the attic region (pars flaccida of the tympanic membrane) or at the posterosuperior margin, with in-growth of squamous epithelium into the middle ear. This is caused as a result of poor ventilation of the middle ear and episodes of infection. chronic atticoantral suppurative otitis media chronic atticoantral disease MONDO:0001922 An abscess that is located in the ureter. ureter abscess pyoureter MONDO:0001923 vitreoretinal dystrophies vitreoretinal dystrophy MONDO:0001924 dystrophies primarily involving the retinal pigment epithelium MONDO:0001925 retinal dystrophy in systemic or cerebroretinal lipidoses MONDO:0001926 A non-neoplastic or neoplastic disorder affecting the ureter. disease of ureter disease or disorder of ureter disorder of ureter ureter disease ureter disease or disorder ureter disorder ureteric disease ureteric disorder ureteral disorder MONDO:0001927 Dysfunction of the pulmonary valve characterized by incomplete valve closure. pulmonary incompetence pulmonary incompetence, non-rheumatic pulmonary insufficiency following trauma and surgery pulmonary regurg. pulmonary regurgitation pulmonary valve regurgitation pulmonary valvular regurgitation pulmonic insufficiency pulmonic valve regurgitation regurgitation, pulmonary pulmonary valve insufficiency MONDO:0001928 Cholangitis that is characterized by pyogenic organisms. suppurative cholangitis suppurative cholangitis MONDO:0001929 Acute infection of the bile ducts caused by bacteria ascending from the small intestine. ascending cholangitis ascending cholangitis MONDO:0001930 Cholangitis that is both sudden in onset and of a relatively short duration. acute cholangitis cholangitis, acute acute cholangitis MONDO:0001931 Inflammation of the tissue surrounding the biliary ducts. pericholangitis MONDO:0001933 A disease involving the endocrine pancreas. disease of endocrine pancreas disease or disorder of endocrine pancreas disorder of endocrine pancreas endocrine pancreas disease endocrine pancreas disease or disorder endocrine pancreas disorder disorder of islets of langerhans disorder of pancreatic islets endocrine pancreas disorder MONDO:0001935 Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly tabes dorsalis, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed) Charcot's arthropathy arthropathy associated with neurological disorder neuropathic arthropathy neuropathic arthropathy (& Charcot's) Charcot's joint neurogenic arthropathy MONDO:0001936 brawny scleritis MONDO:0001938 A non-neoplastic lesion that affects the vulva and is characterized by thinning or thickening of the skin and dryness. dystrophy of vulva vulvar dystrophy MONDO:0001939 A hemangioma arising from the skin. It is characterized by the presence of epithelioid endothelial cells. angiolymphoid cutaneous hyperplasia angiolymphoid hyperplasia of skin angiolymphoid hyperplasia of the skin epithelioid hemangioma of skin epithelioid hemangioma of the skin histiocytoid hemangioma of skin histiocytoid hemangioma of the skin histiocytoid hemangioma of zone of skin skin epithelioid hemangioma zone of skin histiocytoid hemangioma skin epithelioid hemangioma MONDO:0001940 Inflammation of the lung parenchyma that is associated with pleurisy, inflammation of the pleura. pleuropneumonia MONDO:0001941 The lack of vision. It is caused by neurological or physiological factors. vision impairment vision loss visual impairment blindness blindness (disorder) MONDO:0001942 An anxiety disorder characterized by excessive and difficult-to-control worry about a number of life situations. The worry is accompanied by restlessness, fatigue, inability to concentrate, irritability, muscle tension, and/or sleep disturbance and lasts for at least 6 months. GAD generalized anxiety disorder MONDO:0001943 Malaria resulting from infection by Plasmodium malariae. malaria by Plasmodium malariae quartan malaria Plasmodium malariae malaria MONDO:0001944 A malaria that involves infection with more than one species of Plasmodium at the same time. malaria by more than one parasite malaria fever by more than one parasite mixed malaria MONDO:0001945 A disease believed to be caused by a viral illness that triggers degeneration of the nerve cells in the substantia nigra. Overall, this degeneration leads to clinical parkinsonism. postencephalitic Parkinsonism postencephalitic parkinsonism postencephalitic Parkinson disease MONDO:0001947 Acute inflammatory disease of the thyroid gland due to infections by bacteria; fungi; or other microorganisms. Symptoms include tender swelling, fever, and often with leukocytosis. abscess of thyroid acute suppurative thyroiditis infectious thyroiditis suppurative thyroiditis suppurative thyroiditis MONDO:0001949 Acute form of thyroiditis (disease). acute thyroiditis (disease) thyroiditis (disease), acute acute thyroiditis MONDO:0001950 corneal ectasia MONDO:0001951 A rare, severe form of scabies that is associated with immunosuppression. It is characterized by an immense number of mites and hyperkeratotic crusted lesions, and is usually accompanied by lymphadenopathy and eosinophilia. crusted scabies seven year itch Norwegian scabies MONDO:0001952 A malignant neoplasm involving the parietal lobe cancer of parietal lobe malignant neoplasm of parietal lobe malignant parietal lobe neoplasm parietal lobe cancer parietal lobe neoplasm parietal lobe cancer MONDO:0001953 The presence of excessive white blood cells in the urine as determined by urinalysis. pyuria (disease) pus cells in urine pyuria pyuria (disease) pyuria MONDO:0001954 A thrombophlebitis that is characterized by repeated occurances of thrombophlebitis in different locations. thrombophlebitis migrans MONDO:0001955 A dysentery that involves protozoan infection. protozoal dysentery MONDO:0001956 A syndrome characterized by leakage of intravascular fluids into the extravascular space. This syndrome is observed in patients who demonstrate a state of generalized leaky capillaries following shock syndromes, low-flow states, ischemia-reperfusion injuries, toxemias, medications, or poisoning. It can lead to generalized edema and multiple organ failure. AVLS CLS Clarkson disease SCLS acute vascular leak syndrome capillary hyperpermeability syndrome capillary leak syndrome idiopathic capillary leak syndrome systemic capillary leak syndrome capillary leak syndrome with monoclonal gammopathy periodic systemic capillary leak syndrome capillary leak syndrome MONDO:0001957 critical illness polyneuropathy MONDO:0001959 bilateral loss of labyrinthine reactivity loss of labyrinthine reactivity, bilateral labyrinthine bilateral reactive loss MONDO:0001962 glucagon secretion abnormality abnormality of glucagon secretion MONDO:0001964 A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. It is caused by episodes of upper respiratory infections. chronic tubotympanic suppurative otitis media MONDO:0001965 sclerokeratitis sclerosing keratitis MONDO:0001966 Chronic form of angle-closure glaucoma. anatomical narrow angle glaucoma angle-closure glaucoma, chronic chronic angle-closure glaucoma chronic narrow angle glaucoma chronic closed-angle glaucoma MONDO:0001967 A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics. gonadal dysgenesis syndrome gonadal dysgenesis https://rarediseases.info.nih.gov/diseases/2538/gonadal-dysgenesis MONDO:0001969 A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,xx; 45,X/46,xx/47,xxx; 46,xxp-; 45,X/46,xy; 45,X/47,xyy; 46,xypi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,xx or 46,xy constitution. gonadal dysgenesis mixed mixed gonadal dysgenesis https://rarediseases.info.nih.gov/diseases/2539/gonadal-dysgenesis-mixed MONDO:0001971 Hypersensitivity pneumonitis caused by the repeated exposure and inhalation of biological dust (such as hay dust, mold spores, or other agricultural products). It is considered a type II hypersensitivity inflammatory reaction. In the acute phase, signs and symptoms include fever, chills, cough, dyspnea, headache, and chest tightness. The subacute phase manifests as chronic cough, dyspnea, anorexia, and weight loss. The chronic phase results from the prolonged exposure to the antigen and is characterized by severe dyspnea and irreversible damage to the lungs. Farmers lung farmer lung farmer's lung farmer's lung disease https://rarediseases.info.nih.gov/diseases/6427/farmers-lung MONDO:0001972 A brucellosis that involves an infection caused by Brucella melitensis [NCBITaxon:29459] in cattle, goats, sheep and humans. The disease has symptom fever, has symptom malaise, has symptom anorexia, has symptom limb pain and has symptom back pain. Brucella melitensis brucellosis MONDO:0001973 A bacterial infection caused by Brucella abortus that spreads from cattle to humans. Brucella abortus can cause of range of signs and symptoms including fever, chills, sweats, weight loss, malaise, headaches, myalgia, and arthralgia. Brucella abortus brucellosis MONDO:0001974 A hemangioma arising from the orbit. angioma of orbit angioma of the orbit hemangioma of the orbit orbit angioma orbit hemangioma hemangioma of orbit MONDO:0001975 A cavernous hemangioma arising from the orbit. cavernous angioma of orbit cavernous angioma of the orbit cavernous hemangioma of the orbit orbit cavernous angioma orbit cavernous hemangioma cavernous hemangioma of orbit MONDO:0001976 A rare movement disorder developed during pregnancy, characterized by involuntary jerky motion (chorea) and inability to maintain stable position of body parts (athetosis). rheumatic fever and collagen vascular disorders are frequently associated with this disease. Chorea may vary from mild to severe and occurs in approximately 1 per 2,000 to 3,000 pregnancies. (From Md Med J 1997 Sep;46(8):436-9) chorea gravidarum MONDO:0001977 A lymphoma that involves the ureter. lymphoma of the ureter lymphoma of ureter primary ureter lymphoma ureter lymphoma ureteral lymphoma ureteral lymphoma MONDO:0001978 Carcinoma of the ureter without spread to any other region. regional malignant ureteral tumor regional ureter carcinoma regional ureteric carcinoma regional ureteric cancer MONDO:0001979 A disorder of the gastrointestinal tract. It is typically caused by the rapid emptying of undigested food from the stomach to the small intestine following gastroesophageal surgery but may be seen secondary to diabetes or the use of certain medications. Clinical signs may be seen 30-60 minutes after eating (early dumping): cramping, nausea, vomiting and diarrhea or they may be seen 1-3 hours later as a result of hyperinsulinemic hypoglycemia (late dumping): sweating, dizziness, confusion and heart palpitations. Untreated, the clinical course progresses to malnutrition and weight loss. dumping (jejunal) syndrome jejunal syndrome dumping syndrome MONDO:0001982 A group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell. Niemann-Pick disease with cholesterol esterification block Niemann-Pick disease, subacute juvenile form lipoid histiocytosis lipoid histiocytosis (classical phosphatide) sphingomyelin lipidosis sphingomyelin/cholesterol lipidosis sphingomyelinase deficiency disease type A Niemann-Pick disease Niemann-Pick disease MONDO:0001983 peripheral degenerations of cornea peripheral degeneration of cornea MONDO:0001984 A candidiasis that results in fungal infection of the outer-most layer located in nail, has material basis in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury. candidiasis of skin candidiasis of skin and nails candidal paronychia MONDO:0001985 A partial occlusion of the retinal artery. partial retinal arterial occlusion retinal partial arterial occlusion partial arterial retinal occlusion MONDO:0001986 Argyll Robertson phenomenon or pupil, nonsyphilitic Argyll Robertson pupil, atypical atypical Argyll-Robertson pupil Argyll Robertson pupil MONDO:0001987 Senile brain degen. senile degeneration of brain MONDO:0001988 external pathological resorption MONDO:0001989 Hunter's glossitis atrophy of tongue papillae glossitis, Hunter's smooth atrophic tongue atrophic glossitis MONDO:0001990 A very rare malignant peripheral nerve sheath tumor that arises from the heart. CARDIAC schwannoma, malignant Cardiac MPNST Cardiac malignant peripheral nerve sheath tumor MPNST of heart MPNST of the heart heart MPNST heart malignant peripheral nerve sheath tumor malignant Cardiac neurilemmoma malignant Cardiac peripheral nerve sheath neoplasm malignant Cardiac peripheral nerve sheath tumor malignant Cardiac schwannoma malignant heart neurilemmoma malignant heart peripheral nerve sheath neoplasm malignant heart peripheral nerve sheath tumor malignant heart schwannoma malignant neurilemmoma of heart malignant neurilemmoma of the heart malignant peripheral nerve sheath neoplasm of heart malignant peripheral nerve sheath neoplasm of the heart malignant peripheral nerve sheath tumor of heart malignant peripheral nerve sheath tumor of the heart malignant schwannoma of heart malignant schwannoma of the heart malignant cardiac peripheral nerve sheath neoplasm MONDO:0001991 A rare malignant germ cell tumor that arises from the pericardium. malignant Cardiac germ cell neoplasm malignant Cardiac germ cell tumor malignant germ cell neoplasm of heart malignant germ cell neoplasm of the heart malignant germ cell tumor of heart malignant germ cell tumor of the heart malignant heart germ cell neoplasm malignant heart germ cell tumor malignant cardiac germ cell tumor MONDO:0001992 A carcinoma that arises from glandular epithelial cells of the rete testis adenocarcinoma of rete testis adenocarcinoma of the rete testis carcinoma, rete testis, malignant rete testis adenocarcinoma rete testis adenocarcinoma MONDO:0001993 A carcinoma that arises from glandular epithelial cells of the seminal vesicle seminal vesicle adenocarcinoma seminal vesicle adenocarcinoma MONDO:0001994 A malignant neoplasm involving the sphenoidal sinus. cancer of sphenoidal sinus malignant neoplasm of sphenoid sinus malignant neoplasm of sphenoidal sinus malignant neoplasm of the sphenoid sinus malignant neoplasm of the sphenoidal sinus malignant sphenoid sinus neoplasm malignant sphenoid sinus tumor malignant sphenoidal sinus neoplasm malignant sphenoidal sinus tumor malignant tumor of sphenoid sinus malignant tumor of sphenoidal sinus malignant tumor of the sphenoid sinus malignant tumor of the sphenoidal sinus sphenoidal sinus cancer sphenoidal sinus cancer MONDO:0001995 A squamous cell carcinoma that arises from the mucosal epithelial surface of the sphenoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis. epidermoid carcinoma of sphenoid sinus epidermoid carcinoma of sphenoidal sinus epidermoid carcinoma of the sphenoid sinus epidermoid carcinoma of the sphenoidal sinus sphenoid sinus epidermoid carcinoma sphenoid sinus squamous cell carcinoma sphenoidal sinus epidermoid carcinoma sphenoidal sinus squamous cell carcinoma squamous cell carcinoma of sphenoid sinus squamous cell carcinoma of sphenoidal sinus squamous cell carcinoma of the sphenoid sinus squamous cell carcinoma of the sphenoidal sinus sphenoid sinus squamous cell carcinoma MONDO:0001996 borderline glaucoma steroid responder steroid responders borderline glaucoma steroid-induced glaucoma - borderline MONDO:0001997 Resorption in which cementum or dentin is lost from the root of a tooth owing to cementoclastic or osteoclastic activity in conditions such as trauma of occlusion or neoplasms. (Dorland, 27th ed) root resorption MONDO:0001998 Conditions which produce injury or dysfunction of the second cranial or optic nerve, which is generally considered a component of the central nervous system. Damage to optic nerve fibers may occur at or near their origin in the retina, at the optic disk, or in the nerve, optic chiasm, optic tract, or lateral geniculate nuclei. Clinical manifestations may include decreased visual acuity and contrast sensitivity, impaired color vision, and an afferent pupillary defect. Foster-Kennedy syndrome MONDO:0001999 Increased blood pressure in the arteries of the lungs; the etiology is unknown. primary pulmonary hypertension pulmonary hypertension, primary primary pulmonary hypertension MONDO:0002000 meningitis caused by anaerobic bacteria meningitis due to anaerobic bacteria anaerobic meningitis MONDO:0002002 post-surgical hypothyroidism postoperative hypothyroidism postsurgical hypothyroidism MONDO:0002003 Swelling around the optic disc, usually due to increased intracranial pressure or pressure on the optic nerve by a tumor. https://github.com/monarch-initiative/mondo/issues/5537 papilloedema Choked disk edema of the optic disc papilledema https://rarediseases.info.nih.gov/diseases/7318/papilledema MONDO:0002004 A cholesterol embolism that involves the kidney. cholesterol embolism of kidney kidney cholesterol embolism atheroembolism of kidney MONDO:0002006 A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections. acute serous labyrinthitis serous labyrinthitis MONDO:0002008 Inflammation of the inner ear. The cause is often not clear. It may be due to a virus, but it can also arise from bacterial infection, head injury, extreme stress, an allergy, or as a reaction to medication. inflammation of internal ear internal ear inflammation inner ear infection otitis interna Note that DO has distinct classes for both labyrinthitis and otitis interna. These are generally regarded as synonyms. We intentionally make these two classes equivalent. However, the DO class may potentially represent the infectious form, although the sub/superclass relationships are inverted if this is the case. labyrinthitis MONDO:0002009 An episode of depression lasting two or more weeks without an intervening episode of mania. https://github.com/monarch-initiative/mondo/issues/4521 major depressive disorder 1 major depressive disorder 2 major depression major depressive disorder major depressive disorder and accelerated response to antidepressant drug treatment major depressive disorder, response to citalopram therapy in recurrent major depression single major depressive episode unipolar depression unipolar depression, susceptibility to major depressive disorder MONDO:0002010 FG syndrome (FGS) is a genetic condition that affects many parts of the body and occurs almost exclusively in males. 'FG' represents the surname initials of the firstindividuals diagnosed with the disorder.People withFG syndrome frequently have intellectual disability ranging from mild to severe, hypotonia, constipation and/or anal anomalies, a distinctive facial appearance, broad thumbs and great toes,alarge head compared to body size (relative macrocephaly), and abnormalities of the corpus callosum. Medical problems including heart defects, seizures, undescended testicle, and an inguinal hernia have also been reported in some affected individuals. Researchers have identified five regions of the X chromosome that are linked to FG syndrome in affected families. Mutations in the MED12 gene appears to be the most common cause of this disorder, leading to FG syndrome 1. Other genes involved with FG syndrome include FLNA (FGS2), CASK (FGS4), UPF3B (FGS6), and BRWD3 (FGS7).FGS is inherited in an X-linked recessive pattern.Individualized early intervention and educational services are important so that each child can reach their fullest potential. Keller syndrome FGS1 Opitz-Kaveggia syndrome FGS intellectual disability, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum FG syndrome https://rarediseases.info.nih.gov/diseases/2317/fg-syndrome MONDO:0002012 A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease. methylmalonic aciduria METHYLMALONICACIDURIA due to methylmalonic CoA mutase deficiency METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl A METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl B methylmalonic acidemia, cblA type methylmalonic acidemia, cblB type methylmalonic aciduria cblB type methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency methylmalonic aciduria mut type methylmalonic aciduria type cblA methylmalonic aciduria type cblB methylmalonic aciduria, mut type methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type methylmalonic acidemia MONDO:0002013 A benign lesion composed of dilated lymphatic channels. Painless swelling is the usual clinical manifestation. benign lymphangioma benign lymphangioma (morphologic abnormality) lymphangioma lymphangioma, benign congenital lymphangioma LM lymphangioma MONDO:0002014 The rare autosomal recessive form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported. Ehlers-Danlos syndrome, recessive type 4 Ehlers-Danlos syndrome, vascular type, autosomal recessive autosomal recessive type IV Ehlers-Danlos syndrome autosomal recessive Ehlers-Danlos syndrome, vascular type MONDO:0002016 A condition marked by recurrent seizures that occur during the first 4-6 weeks of life despite an otherwise benign neonatal course. Autosomal dominant familial and sporadic forms have been identified. Seizures generally consist of brief episodes of tonic posturing and other movements, apnea, eye deviations, and blood pressure fluctuations. These tend to remit after the 6th week of life. The risk of developing epilepsy at an older age is moderately increased in the familial form of this disorder. (Neurologia 1996 Feb;11(2):51-5) familial neonatal seizures benign familial neonatal epilepsy MONDO:0002017 A group of sporadic and inherited neurodegenerative disorders affecting the cerebellum, pons, and inferior olives. Dejerine-Thomas syndrome WADIA-swami syndrome OPCA Thomas' syndrome olivopontocerebellar atrophy MONDO:0002021 A disease involving the gingiva. disease of gingiva disease or disorder of gingiva disorder of gingiva gingiva disease gingiva disease or disorder gingival disorder MONDO:0002022 A disease that involves the orbital region. disease of orbital region disease or disorder of orbital region disorder of eye region disorder of orbital region orbital region disease orbital region disease or disorder eye and adnexa disease ophthalmological disorder disorder of orbital region MONDO:0002025 A disorder characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. The symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. Representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia. Psychiatric disease Psychiatric disorder disease of mental health mental disorder mental dysfunction mental illness psychiatric disorder MONDO:0002026 Infection with the organism Candida. Candida <Debaryomycetaceae> infection Candida infection Candidosis thrush disseminated candidiasis systemic candidiasis infections, Candida <Debaryomycetaceae> candidiasis MONDO:0002027 A disorder characterized by an enduring pattern of avoidance of social situations and interpersonal contact due to overwhelming feelings of social inadequacy and a hypersensitivity to negative evaluation or rejection. anxious personality disorder avoidant personality disorder MONDO:0002028 A diverse category of psychiatric disorders characterized by behavior that deviates markedly from the expectations of the individual's culture; this pattern of deviation is pervasive and inflexible and is stable over time. The behavioral pattern negatively interferes with relationships and work. personality disorder (disease) character disorder personality disorder personality disorder (disease) personality disorder MONDO:0002029 Chronic form of gonococcal cervicitis. chronic gonococcal cervicitis gonococcal cervicitis, chronic chronic gonorrhea of cervix MONDO:0002030 Chronic inflammation of the cervix. cervicitis (disease), chronic chronic cervicitis (disease) chronic cervicitis MONDO:0002031 Pathological developments in the cecum. caecum disease caecum disease or disorder disease of caecum disease or disorder of caecum disorder of caecum cecal disorder MONDO:0002032 A carcinoma that arises from epithelial cells of the colon colon cancer carcinoma of colon carcinoma of the colon colon carcinoma colonic carcinoma colon carcinoma MONDO:0002033 A malignant neoplasm involving the caecum caecum cancer cancer of caecum malignant caecum neoplasm malignant cecum neoplasm malignant cecum tumor malignant neoplasm of caecum malignant neoplasm of cecum malignant neoplasm of the cecum malignant tumor of cecum malignant tumor of the cecum cecum cancer MONDO:0002034 An extranodal lymphoma that arises from the cecum. The majority are B-cell non-Hodgkin lymphomas. caecum lymphoma cecal lymphoma cecum lymphoma lymphoma of caecum lymphoma of cecum lymphoma of the cecum primary cecum lymphoma cecum lymphoma MONDO:0002035 An extranodal lymphoma that arises from the colon. The majority are B-cell non-Hodgkin lymphomas. colon lymphoma colonic lymphoma lymphoma of colon lymphoma of the colon primary colon lymphoma colon lymphoma MONDO:0002036 A non-neoplastic or neoplastic disorder that affects the penis. Representative examples of non-neoplastic disorders include phimosis, balanitis, and hypospadias. Representative examples of neoplastic disorders include hemangioma, penile intraepithelial neoplasia, and penile carcinoma. disease of penis disease or disorder of penis disorder of penis penile disease penile disorder penis disease penis disease or disorder penile disorder MONDO:0002037 A non-neoplastic or neoplastic disorder that affects the pleura. Representative examples include pleural infection, pleural mesothelioma, and pleural solitary fibrous tumor. disease of pleura disease or disorder of pleura disorder of pleura pleura disease pleura disease or disorder pleural disorder pleural disorders non-neoplastic pleural disease pleural disorder MONDO:0002038 A carcinoma that arises from the head and neck region. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma. carcinoma of craniocervical region carcinoma of head and neck carcinoma of neck carcinoma of the head and neck craniocervical region carcinoma head and neck carcinoma neck carcinoma carcinoma of the neck head and neck cancer head and neck carcinoma MONDO:0002039 A disease affects cognitive processes. cognitive disease cognitive disorder organic mental disorder cognitive disorder MONDO:0002040 Superficial infections of the skin or its appendages by any of various fungi. dermatomycosis MONDO:0002041 An infection caused by a fungus. Fungi caused disease or disorder Fungi disease or disorder Fungi infection Fungi infectious disease mycosis fungal infection infection, fungal infections, Fungi mycoses fungal infectious disease MONDO:0002042 An ectropion with a mechanical etiology. mechanical ectropion MONDO:0002043 The turning outward (eversion) of the edge of the eyelid, resulting in the exposure of the palpebral conjunctiva. (Dorland, 27th ed) ectropion (disease) ectropion ectropion (disease) ectropion of eyelid everted margin ectropion MONDO:0002044 spastic ectropion MONDO:0002045 An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of impaired cerebrospinal fluid reabsorption by the arachnoid granulations. non-obstructive hydrocephalus communicating hydrocephalus MONDO:0002046 The use of alcoholic beverages to excess, either on individual occasions ("binge drinking") or as a regular practice. alcohol abuse ethanol abuse abuse, alcohol addiction, alcohol alcohol addiction alcohol dependence alcohol use disorder alcoholic intoxication, chronic alcoholism chronic alcoholic intoxication dependence, alcohol intoxication, chronic alcoholic alcohol abuse MONDO:0002047 lung disease with systemic sclerosis lung involvement in systemic sclerosis scleroderma lung disease scleroderma of lung pulmonary systemic sclerosis MONDO:0002048 A general class of thrombocytopenia due to immune destruction of platelets. It includes idiopathic thrombocytopenic purpura, as well as immune destruction-related thrombocytopenias due to other reasons (e.g., AIDS, transfusion, lupus erythematosus). immune thrombocytopenia auto-immune thrombocytopenia thrombocytopenia due to immune destruction thrombocytopenia due to platelet alloimmunization thrombocytopenia due to immune destruction MONDO:0002049 A laboratory test result indicating that there is an abnormally small number of platelets in the circulating blood. platelet count decreased thrombocytopenic disorder thrombocytopenia MONDO:0002050 A melancholy feeling of sadness and despair. depression mental depression melancholia melancholias syndrome, depressive syndromes, depressive depressive disorder MONDO:0002051 A disease involving the integumental system. disease of integumental system disease or disorder of integumental system disorder of integumental system integumental system disease integumental system disease or disorder integumentary disease disorder of integument integumentary system disorder MONDO:0002052 Acute or chronic inflammation of one or more lymph nodes. It is usually caused by an infectious process. lymphadenitis (disease) Inflammation of lymph node adenitis inflammation of lymph node lymph node inflammation lymph nodeitis lymphadenitis lymphadenitis (disease) acute adenitis acute lymphadenitis chronic adenitis chronic lymphadenitis lymph gland infection lymphadenitis MONDO:0002055 A very rare, benign sweat gland neoplasm that affects the breast. It is characterized by the proliferation of basaloid epithelial cells. benign breast eccrine spiradenoma benign eccrine breast spiradenoma benign eccrine spiradenoma of breast benign eccrine spiradenoma of the breast benign eccrine breast spiradenoma MONDO:0002056 A benign tumor of the breast characterized by the presence of stromal and epithelial elements. It presents as a painless, solitary, slow growing, firm, and mobile mass. It is the most common benign breast lesion. It usually occurs in women of childbearing age. The majority of fibroadenomas do not recur after complete excision. A slightly increased risk of developing cancer within fibroadenomas or in the breast tissue of patients previously treated for fibroadenomas has been reported. Complex fibroadenoma of breast breast fibroadenoma cellular fibroadenoma fibroadenoma fibroadenoma of breast fibroadenoma of the breast fibroadenoma, benign juvenile fibroadenoma juvenile fibroadenoma (morphologic abnormality) juvenile fibroadenoma of breast FA breast fibroadenoma MONDO:0002057 A well-circumscribed benign smooth muscle neoplasm arising from the breast. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. breast leiomyoma leiomyoma of breast breast leiomyoma MONDO:0002058 A benign, well circumscribed neoplasm that arises from the breast. Representative examples include apocrine adenoma, tubular adenoma, and pleomorphic adenoma. Ademoma - breast breast adenoma breast adenoma MONDO:0002060 An intraluminal papillary epithelial neoplasm arising within the ducts. Representative examples are the intraductal breast papilloma and the salivary gland intraductal papilloma. duct adenoma duct papilloma ductal papilloma intraductal papilloma intraductal papilloma (morphologic abnormality) intraductal papilloma MONDO:0002061 A benign or malignant papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by epithelial proliferations. This category includes intraductal papilloma and intraductal papillary carcinoma. intraductal papillary breast neoplasm intraductal papillary breast neoplasm MONDO:0002062 A myofibroblastoma occurring in the breast of both women and men. It presents as a slowly growing mass. breast myofibroblastoma breast myofibroblastoma MONDO:0002063 A benign breast neoplasm characterized by the proliferation of multiple papillomas. breast papillomatosis papillomatosis of breast papillomatosis of the breast breast papillomatosis MONDO:0002064 A benign diffuse vascular proliferation in the breast. It is characterized by the formation of capillary-sized and cavernous vascular spaces. breast angiomatosis MONDO:0002065 A benign, nodular tumor that arises from the breast parenchyma. It is characterized by the proliferation of myoepithelial cells around spaces that are lined by epithelial cells. Occasionally, adenomyoepitheliomas may undergo malignant transformation. benign adenomyoepithelioma of breast benign adenomyoepithelioma of the breast benign breast adenomyoepithelioma breast adenomyoepithelioma, benign benign breast adenomyoepithelioma MONDO:0002066 A usually benign tumor arising from the breast. It is characterized by the proliferation of cells with myoepithelial differentiation around spaces which are lined by epithelial cells. Rarely, the epithelial and/or myoepithelial cells may undergo malignant transformation. Cases with malignant transformation may follow an aggressive clinical course, including recurrences and local and distant metastases. adenomyoepithelioma of the breast breast adenomyoepithelioma breast adenomyoepithelioma with malignant change malignant adenomyoepithelioma of breast BRAME breast adenomyoepithelioma MONDO:0002067 malignant neoplasm of upper-inner quadrant of female breast female breast upper-inner quadrant cancer MONDO:0002068 malignant neoplasm of lower-inner quadrant of female breast female breast lower-inner quadrant cancer MONDO:0002069 A cancer that involves the UBERON:0035289. axillary tail of breast cancer cancer of axillary tail of breast malignant axillary tail of breast neoplasm malignant neoplasm of axillary tail of breast malignant neoplasm of axillary tail of female breast female breast axillary tail cancer MONDO:0002070 The presence of a defect (opening) in the septum that separates the two ventricles of the heart. It can be congenital or acquired. ventricular septal defect (disease) VSD interventricular communication interventricular septal defect ventricular septal abnormality ventricular septal defect ventricular septal defect (disease) heart septal defects, ventricular ventricular septal defects ventricular septal defect MONDO:0002071 Primary and metastatic (secondary) tumors of the brain located above the tentorium cerebelli, a fold of dura mater separating the CEREBELLUM and brain STEM from the cerebral hemispheres and DIENCEPHALON (i.e., THALAMUS and HYPOTHALAMUS and related structures). In adults, primary neoplasms tend to arise in the supratentorial compartment, whereas in children they occur more frequently in the infratentorial space. Clinical manifestations vary with the location of the lesion, but SEIZURES; APHASIA; HEMIANOPSIA; hemiparesis; and sensory deficits are relatively common features. Metastatic supratentorial neoplasms are frequently multiple at the time of presentation. brain neoplasm, supratentorial malignant supratentorial neoplasm malignant supratentorial tumor supratentorial neoplasms, malignant supratentorial cancer MONDO:0002072 A rare neoplasm usually occurring in infants. It is characterized by the presence of a mixture of melanin-containing epithelial cells and smaller neuroblast-like cells. It may involve the skull and facial bones, or the epididymis. It usually has a benign clinical course. MNTI infantile melanotic neuroectodermal neoplasm melanotic Progonoma melanotic neuroectodermal tumor (morphologic abnormality) melanotic neuroectodermal tumor of infancy melanotic neuroectodermal tumor of infancy (morphologic abnormality) pigmented neuroectodermal tumor pigmented neuroectodermal tumour of infancy retinal anlage neoplasm melanotic neuroectodermal tumor MONDO:0002073 A malignant germ cell tumor that arises in the pineal region. Representative examples include germinoma, immature teratoma, choriocarcinoma, embryonal carcinoma and yolk sac tumor. malignant germ cell neoplasm of pineal gland malignant germ cell neoplasm of pineal parenchyma malignant germ cell neoplasm of the pineal gland malignant germ cell neoplasm of the pineal parenchyma malignant germ cell tumor of pineal gland malignant germ cell tumor of pineal parenchyma malignant germ cell tumor of the pineal gland malignant germ cell tumor of the pineal parenchyma malignant pineal area germ cell tumor malignant pineal gland germ cell neoplasm malignant pineal gland germ cell tumor malignant pineal parenchymal germ cell neoplasm malignant pineal parenchymal germ cell tumor malignant pineal region germ cell neoplasm malignant pineal region germ cell tumor pineal germ cell neoplasm, malignant pineal germ cell tumor pineal region germ cell tumor pineal cell tumor pineal cell tumour pineal region germinoma malignant pineal area germ cell neoplasm MONDO:0002074 Arthropathy resulting from Behcet's syndrome. Behcet syndrome arthropathy Behcet's syndrome arthropathy arthropathy in Behcet's syndrome arthropathy in Behcet's syndrome involving ankle and foot arthropathy in Behcet's syndrome involving forearm arthropathy in Behcet's syndrome involving hand arthropathy in Behcet's syndrome involving lower leg arthropathy in Behcet's syndrome involving multiple sites arthropathy in Behcet's syndrome involving pelvic region and thigh arthropathy in Behcet's syndrome involving shoulder region arthropathy in Behcet's syndrome involving upper arm Behcet syndrome arthropathy MONDO:0002075 spontaneous tension pneumothorax MONDO:0002076 Abnormal presence of air in the pleural cavity. pneumothorax (disease) pneumothorax pneumothorax (disease) pneumothorax MONDO:0002077 low implantation of placenta MONDO:0002078 A congenital disorder characterized by the presence of an abnormal communication between the atria or the ventricles of the heart due to defects in the cardiac septum. Cardiac septal defects congenital septal defect congenital septal defect of heart holes in the heart septal defect heart septal defect MONDO:0002081 A disease involving the musculoskeletal system. disease of musculoskeletal system disease or disorder of musculoskeletal system disorder of musculoskeletal system musculoskeletal disease musculoskeletal system disease musculoskeletal system disease or disorder musculoskeletal system disorder musculoskeletal disorder musculoskeletal system disorder MONDO:0002082 A benign or malignant neoplasm arising from the epithelial cells of an endocrine organ. Representative examples include pituitary gland adenoma, pituitary gland carcinoma, thyroid gland carcinoma, carcinoid tumor, and neuroendocrine carcinoma. endocrine gland neoplasm (disease) endocrine gland tumor endocrine neoplasm endocrine system neoplasm endocrine system tumor endocrine tumor neoplasm of endocrine gland tumor of endocrine gland malignant endocrine tumor endocrine gland neoplasm MONDO:0002083 Transformation of chronic lymphocytic leukemia into aggressive non-Hodgkin's lymphoma, usually diffuse large B-cell lymphoma (immunoblastic or centroblastic variant). Occasional cases of transformation to Hodgkin's lymphoma have also been described, particularly in patients treated with purine nucleotide analogues. Molecular genetic studies suggest that in approximately half of the cases, the lymphoma is clonally related to the underlying chronic lymphocytic leukemia, whereas in the remaining cases the lymphoma probably represents a secondary, unrelated neoplasm. Richter syndrome Richter transformation Richter's syndrome Richter's transformation Richter syndrome MONDO:0002085 benign shuddering attacks MONDO:0002086 An acanthoma characterized by the presence of psoriasiform epidermal acanthosis and basal cells with pale cytoplasm. Degos acanthoma clear cell acanthoma (morphologic abnormality) pale (clear cell) acanthoma clear cell acanthoma MONDO:0002087 A malignant neoplasm involving the peritoneum cancer of peritoneum cancer of the peritoneum malignant neoplasm of peritoneum malignant peritoneal neoplasm malignant peritoneum neoplasm peritoneal cancer peritoneal cavity cancer peritoneum cancer peritoneal neoplasm peritoneum cancer MONDO:0002088 partial occlusion of retinal vein partial retinal vein occlusion partial retinal vein occlusion MONDO:0002089 An occlusion of the retinal vasculature. retinal vascular occlusion retinal vascular occlusion, unspecified retinal vascular occlusion MONDO:0002090 A neoplasm involving a eccrine sweat gland. eccrine neoplasm eccrine neoplasm of skin eccrine neoplasm of the skin eccrine skin neoplasm eccrine skin tumor eccrine sweat gland neoplasm (disease) eccrine sweat gland tumor eccrine tumor eccrine tumor of skin eccrine tumor of the skin neoplasm of eccrine sweat gland tumor of eccrine sweat gland eccrine sweat gland neoplasm MONDO:0002092 A benign smooth muscle neoplasm arising from the small intestine. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. leiomyoma of small bowel leiomyoma of small intestine leiomyoma of the small bowel leiomyoma of the small intestine leiomyoma, small bowel leiomyoma, small intestine small bowel leiomyoma small intestinal leiomyoma small intestine leiomyoma small intestine leiomyoma MONDO:0002093 A benign skin neoplasm composed of epithelial cells. acanthoma (disease) acanthoma acanthoma (disease) acanthoma MONDO:0002095 A malignant neoplasm arising from the blood vessels. Haemangiomatous tumour blood vessel neoplasm blood vessel tumor blood vessel tumor (morphologic abnormality) blood vessel tumors blood vessel tumors (morphologic abnormality) blood vessel tumour disorder neoplasm of great vessel vascular tumors cancer of vasculature malignant blood vessel neoplasm malignant blood vessel tumor malignant neoplasm of vasculature malignant vascular neoplasm malignant vascular tumor malignant vasculature neoplasm pulmonary artery cancer pulmonary artery malignant neoplasm pulmonary vein malignant neoplasm vasculature cancer leiomyosarcoma of the renal vein malignant tumor of pulmonary artery malignant tumor of pulmonary vein renal vein leiomyosarcoma vascular tissue neoplasm Editor note: see also NCIT:C7390 vascular cancer MONDO:0002096 A malignant melanoma within the conjunctiva of the eye. conjunctiva melanoma conjunctiva melanoma (disease) conjunctival malignant melanoma conjunctival melanoma malignant conjunctiva melanoma malignant conjunctival melanoma malignant melanoma of conjunctiva malignant melanoma of the conjunctiva melanoma (disease) of conjunctiva melanoma of conjunctiva melanoma of the conjunctiva CM malignant conjunctival melanoma MONDO:0002098 A disease involving the facial nerve. disease of facial nerve disease or disorder of facial nerve disorder of facial nerve facial nerve disease facial nerve disease or disorder facial nerve disorder disorder of seventh cranial nerve disorders of the VIIth cranial nerve disorders of the seventh nerve facial neuropathy facial nerve disorder MONDO:0002099 An disease or disorder caused by infection with Histoplasma capsulatum. Histoplasma capsulatum caused disease or disorder Histoplasma capsulatum disease or disorder infection by Histoplasma capsulatum American histoplasmosis classical histoplasmosis darling's disease infection caused by Histoplasma capsulatum small form histoplasmosis Histoplasma capsulatum infectious disease MONDO:0002100 A primary or metastatic malignant neoplasm involving the cardiovascular system. cardiovascular neoplasm cancer of cardiovascular system cardiovascular system cancer cardiovascular tumors malignant cardiovascular neoplasm malignant cardiovascular system neoplasm malignant neoplasm of cardiovascular system cardiovascular cancer MONDO:0002101 A neoplasm involving a facial nerve. VIIth cranial nerve neoplasms VIIth cranial nerve tumors facial nerve neoplasm facial nerve neoplasm (disease) facial nerve neoplasms facial nerve tumor facial nerve tumors neoplasm of Facial nerve neoplasm of facial nerve neoplasm of seventh cranial nerve neoplasm of the Facial nerve neoplasm of the seventh cranial nerve seventh cranial nerve neoplasm seventh cranial nerve neoplasms seventh cranial nerve tumor seventh cranial nerve tumors tumor of Facial nerve tumor of facial nerve tumor of seventh cranial nerve tumor of the Facial nerve tumor of the seventh cranial nerve facial nerve neoplasm MONDO:0002102 An inflammatory process affecting the lip. inflammation of lip lip inflammation cheilitis MONDO:0002103 A category of psychiatric disorders which are characterized by physical or psychological symptoms that are intentionally produced in order to assume the sick role; there is no external incentive for the behavior, such as economic gain or avoiding legal responsibility, and the person is unaware of any self-motivating factors. Munchausen syndrome factitious disorder MONDO:0002104 Conversion disorder is a disorder in which a person experiences blindness, paralysis, or other symptoms affecting the nervous system that cannot be explained solely by a physical illness or injury. Symptoms usually begin suddenly after a period of emotional or physical distress or psychological conflict. Conversion disorder is thought to be caused by the bodys reaction to a stressful physical or emotional event. Some research has identified potential neurological changes that may be related to symptoms of the disorder. Diagnosis of conversion disorder is based on identifying particular signs that are common among people with the disorder, as well as performing tests to rule out other causes of the symptoms. Treatment may include psychotherapy, hypnosis, and stress management training to help reduce symptoms. Treatment of any underlying psychological disorder is also recommended. The affected body part may require physical or occupational therapy until symptoms resolve. conversion hysteria or reaction conversion hysterical neurosis hysterical neurosis, conversion type FND functional movement disorder functional neurological disorder conversion disorder https://rarediseases.info.nih.gov/diseases/6191/conversion-disorder MONDO:0002105 An acute form of megacolon, severe pathological dilatation of the colon. It is associated with clinical conditions such as ulcerative colitis; crohn disease; amebic dysentery; or clostridium enterocolitis. toxic megacolon MONDO:0002106 loss of labyrinthine reactivity, unilateral unilateral loss of labyrinthine reactivity labyrinthine unilateral reactive loss MONDO:0002107 hyperactive labyrinth, unilateral hyperactive unilateral labyrinthine dysfunction unilateral hyperactive labyrinth MONDO:0002108 A malignant neoplasm involving the thyroid gland neoplasm of thyroid gland thyroid gland neoplasm cancer of thyroid gland malignant neoplasm of the thyroid malignant neoplasm of the thyroid gland malignant neoplasm of thyroid malignant neoplasm of thyroid gland malignant thyroid gland neoplasm malignant thyroid gland tumor malignant thyroid neoplasm malignant thyroid tumor malignant tumor of the thyroid malignant tumor of the thyroid gland malignant tumor of thyroid malignant tumor of thyroid gland malignant tumour of thyroid gland thyroid gland cancer thyroid cancer MONDO:0002109 A primary or metastatic malignant neoplasm affecting the pituitary gland. Representative examples include functioning or non-functioning carcinomas arising from the anterior lobe of the pituitary gland, chordomas, chondrosarcomas, and metastatic carcinomas from the breast, lung, and gastrointestinal tract. pituitary gland neoplasm pituitary neoplasm cancer of pituitary gland malignant neoplasm of pituitary malignant neoplasm of pituitary gland malignant neoplasm of the pituitary malignant neoplasm of the pituitary gland malignant pituitary gland neoplasm malignant pituitary gland tumor malignant pituitary neoplasm malignant pituitary tumor malignant tumor of pituitary malignant tumor of pituitary gland malignant tumor of the pituitary malignant tumor of the pituitary gland pituitary cancer pituitary gland cancer pituitary neoplasms, malignant pituitary tumor, malignant pituitary cancer MONDO:0002110 A benign, testicular or ovarian tumor, derived from adrenal embryonic rest cells. It is composed of hyperplastic adrenal cortical tissue, and it is associated with congenital adrenal hyperplasia. adrenal rest neoplasm adrenal rest tumor adrenal rest tumor MONDO:0002112 A rare, benign neoplasm that arises from the peritoneum and is characterized by the presence of gland like structures. Cytologic atypia is absent. mesothelioma of peritoneum peritoneal adenomatoid tumor peritoneum benign mesothelioma benign peritoneal mesothelioma MONDO:0002113 A rare carcinoma that arises from the peritoneum and resembles the malignant surface epithelial-stromal tumors that arise from the ovary. Serous adenocarcinoma is the most common histologic variant. It affects women almost exclusively. The diagnosis of primary peritoneal carcinoma can be made only if both ovaries are not involved by tumor, or, if the ovaries are involved, the tumor is confined to the ovarian surface without invasion of the ovarian stroma and the peritoneal involvement is greater than the ovarian surface involvement. carcinoma of peritoneum peritoneum carcinoma primary peritoneal carcinoma peritoneal carcinoma MONDO:0002114 A lymphoma that arises from the pancreas with the bulk of the tumor localized to this organ. The vast majority of cases are non-Hodgkin lymphomas of B-cell phenotype and include mucosa-associated lymphoid tissue lymphomas, follicular lymphomas, and diffuse large B-cell lymphomas. lymphoma of pancreas lymphoma of the pancreas pancreas lymphoma pancreatic lymphoma pancreas lymphoma MONDO:0002116 A malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue. pancreatic exocrine tumor cancer of exocrine pancreas exocrine pancreas cancer malignant exocrine pancreas neoplasm malignant exocrine pancreas tumor malignant neoplasm of exocrine pancreas malignant neoplasm of the exocrine pancreas malignant tumor of exocrine pancreas malignant tumor of the exocrine pancreas tumor of exocrine pancreas malignant exocrine pancreas neoplasm MONDO:0002117 A rare malignant soft tissue neoplasm that occurs primarily in the pancreas. pancreas sarcoma pancreatic sarcoma sarcoma of pancreas sarcoma of the pancreas pancreas sarcoma MONDO:0002118 A disease involving the renal system. disease of renal system disease or disorder of renal system disease, urinary tract disease, urologic disease, urological diseases, urinary tract diseases, urologic diseases, urological disorder of renal system disorder of the urinary system disorder of urinary system non-neoplastic urinary tract disease renal system disease renal system disease or disorder urinary disease urinary system disease urinary system disorder urinary tract disease urinary tract diseases urinary tract disorder urologic disease urologic disorder urological disease urological diseases urological disorder urological disorders urinary system disorder MONDO:0002119 A well circumscribed lesion of the bone, most frequently arising from the posterior mandible. It is characterized by the presence of fibrous tissue and a mineralized component which may be woven bone, lamellar bone, or cementum-like material. Complete removal is recommended, since it continues to enlarge if left untreated. ossifying fibroma (disease) Cementifying fibroma cemento-ossifying fibroma fibro-osteoma fibroma, ossifying, benign ossifying fibroma ossifying fibroma (disease) juvenile ossifying fibroma peripheral ossifying fibroma ossifying fibroma MONDO:0002120 A malignant neuroendocrine neoplasm composed of cells containing secretory granules that stain positive for NSE and chromogranin. The neoplastic cells are often round and form clusters or trabecular sheets. Representative examples are small cell carcinoma, large cell neuroendocrine carcinoma, and Merkel cell carcinoma. NEC neuroendocrine cancer neuroendocrine carcinoma neuroendocrine carcinoma MONDO:0002121 Neuritis of a single nerve. mononeuritis mononeuritis simplex MONDO:0002122 A neuropathy arising from inflammation of one or more nerves. nerve inflammation peripheral neuritis neuritis MONDO:0002123 Deposition of calcium in the tissues. It may be the result of a metabolic disorder or long-standing infection, or it may be associated with the presence of cancer. calcification calcium deposit(s) deposit(s), calcium macrocalcification pathologic calcification pathologically calcified structure calcinosis MONDO:0002124 secondary lacrimal atrophy consecutive atrophy of lacrimal gland secondary atrophy of lacrimal gland secondary lacrimal atrophy MONDO:0002125 A life-threatening situation in which the brain is in a continuous state of seizure. grand mal status GCSE SE generalized convulsive status epilepticus status epilepticus https://rarediseases.info.nih.gov/diseases/10191/status-epilepticus MONDO:0002127 Narrowing of any part of the urethra. It is characterized by decreased urinary stream and often other obstructive voiding symptoms. urethral stricture (disease) urethral stricture urethral stricture (disease) urethral stricture MONDO:0002128 A painful asymmetric asynchronous sensory and motor peripheral neuropathy involving isolated damage to at least 2 separate nerve areas; associated with (but not limited to) systemic disorders such as diabetes, vasculitis, amyloidosis, direct tumor involvement, polyarteritis nodosa, rheumatoid arthritis, systemic lupus erythematosus, and paraneoplastic syndromes. It also may be associated with Lyme disease, Wegener's granulomatosis, Sjogren syndrome, cryoglobulinemia, hypereosinophilia, temporal arteritis, scleroderma, sarcoidosis, leprosy, acute viral hepatitis A, and acquired immunodeficiency syndrome. mononeuritis multiplex mononeuritis multiplex https://rarediseases.info.nih.gov/diseases/7056/mononeuritis-multiplex MONDO:0002129 A primary or metastatic malignant neoplasm affecting the bone or articular cartilage. bone neoplasm bone tumour osseous tumor CA - bone cancer bone cancer cancer of bone cancer of skeletal element cancer of the bone malignant bone neoplasm malignant bone tumor malignant bone tumour malignant neoplasm of bone malignant neoplasm of skeletal element malignant neoplasm of the bone malignant osseous neoplasm malignant osseous tumor malignant skeletal element neoplasm malignant tumor of bone malignant tumor of the bone osseous cancer skeletal element cancer bone cancer MONDO:0002130 A disease affecting a single peripheral nerve of the upper limb. forelimb mononeuritis simplex mononeuritis of upper limb mononeuritis of upper limb, unspecified mononeuritis simplex of forelimb mononeuritis upper limb upper limb mononeuronitis MONDO:0002131 A malignant neoplasm involving the jaw skeleton jaw neoplasm neoplasm of jaw cancer of jaw skeleton jaw skeleton cancer malignant jaw skeleton neoplasm malignant neoplasm of jaw skeleton jaw cancer MONDO:0002132 A malignant neoplasm involving the skull. cancer of skull malignant neoplasm of skull malignant skull neoplasm skull cancer skull cancer MONDO:0002133 Chronic form of rheumatic pericarditis. rheumatic pericarditis, chronic chronic rheumatic pericarditis MONDO:0002134 Physiological disturbances in normal sexual performance in either the male or the female. Sex disorders sexual dysfunction physiological sexual disorder physiological sexual dysfunction physiological sexual disorders physiological sexual dysfunctions sexual disorder, physiological sexual disorders, physiological sexual dysfunctions, physiological physiological sexual disorder MONDO:0002135 A non-neoplastic or neoplastic disorder affecting the optic nerve (second cranial nerve). cranial nerve II disease cranial nerve II disease or disorder disease of cranial nerve II disease or disorder of cranial nerve II disorder of cranial nerve II disorder of the second nerve optic nerve disorder optic neuropathy second cranial nerve disorder optic nerve disorder MONDO:0002136 eczematous dermatitis of eyelid MONDO:0002137 non-infected eyelid dermatoses noninfectious dermatoses of eyelid MONDO:0002138 A allergic contact dermatitis that involves the eyelid. contact and allergic dermatitis of eyelid eyelid allergic contact dermatitis allergic contact dermatitis of eyelid MONDO:0002139 Pathological processes in the sigmoid colon region of the large intestine (intestine, large). sigmoid disease MONDO:0002140 A malignant mesenchymal neoplasm that arises from the vagina. Representative examples include botryoid-type embryonal rhabdomyosarcoma, leiomyosarcoma, and endometrioid stromal sarcoma. sarcoma of the vagina sarcoma of vagina vagina sarcoma vaginal sarcoma vagina sarcoma MONDO:0002141 An undifferentiated pleomorphic sarcoma arising from the skin. It is characterized by the presence of spindle cells in a storiform pattern and histiocytes with abundant cytoplasm. cutaneous malignant fibrous histiocytoma cutaneous unclassified pleomorphic sarcoma cutaneous unclassified pleomorphic sarcoma (formerly cutaneous "MFH") cutaneous unclassified pleomorphic sarcoma (formerly cutaneous "malignant fibrous histiocytoma") cutaneous unclassified pleomorphic sarcoma (formerly cutaneous) cutaneous undifferentiated pleomorphic sarcoma malignant cutaneous fibrous histiocytoma malignant fibrous histiocytoma of skin malignant fibrous histiocytoma of the skin malignant skin fibrous histiocytoma undifferentiated pleomorphic sarcoma of zone of skin zone of skin undifferentiated pleomorphic sarcoma cutaneous undifferentiated pleomorphic sarcoma MONDO:0002142 An undifferentiated soft tissue sarcoma characterized by the presence of a pleomorphic malignant cellular infiltrate. It is also known as malignant fibrous histiocytoma. MFH Storiform-pleomorphic MFH Storiform-pleomorphic fibrous histiocytoma Storiform-pleomorphic malignant fibrous histiocytoma UPS Unclassified Pleomorphic sarcoma (formerly "MFH") Unclassified Pleomorphic sarcoma (formerly "malignant fibrous histiocytoma") adult malignant fibrous histiocytoma adult unclassified pleomorphic sarcoma adult undifferentiated pleomorphic sarcoma fibrous histiocytoma, malignant fibrous histiocytoma, malignant (morphologic abnormality) fibroxanthosarcoma fibroxanthosarcoma (morphologic abnormality) histiocytoma, fibrous, malignant malignant fibrous cytoma malignant fibrous histiocytoma malignant fibrous histiocytoma of soft tissue and bone malignant fibrous histiocytoma of the soft tissue and bone malignant fibroxanthoma unclassified pleomorphic sarcoma undifferentiated pleomorphic sarcoma undifferentiated pleomorphic soft tissue sarcoma malignant fibrohistiocytic tumors undifferentiated pleomorphic sarcoma/malignant fibrous histiocytoma/high-grade spindle cell sarcoma undifferentiated pleomorphic sarcoma https://rarediseases.info.nih.gov/diseases/6963/undifferentiated-pleomorphic-sarcoma MONDO:0002143 A rare yolk sac tumor that arises from the vagina. Patients present with abnormal vaginal bleeding or bloody discharge. vaginal endodermal sinus neoplasm vaginal endodermal sinus tumor vaginal yolk Sac neoplasm vaginal yolk Sac tumor yolk sac tumor vaginal yolk sac tumor MONDO:0002145 A congenital disorder characterized by abnormalities in the development of the sexual characteristics. https://github.com/monarch-initiative/mondo/issues/4091 https://github.com/monarch-initiative/mondo/issues/4949 CARD DSD conditions affecting reproductive development differences of sex development disorder of sex development disorder of sex differentiation disorder of sexual differentiation disorders of sex development intersex intersex conditions sex differentiation disease sex differentiation disorder sexual differentiation disorder disorders of sex development (DSD) disorder of sexual differentiation MONDO:0002146 A disorder characterized by decreased function of the gonads. Clinical manifestations in both males and females include poor libido, infertility, and osteoporosis. Additional signs in males include erectile dysfunction, muscle atrophy, gynecomastia and increased abdominal fat. In females, additional signs include shrinking of the breasts and loss of, or failure to develop menstruation. gonadotropin deficiency hypogonadotropism hypogonadism MONDO:0002149 A malignant neoplasm involving the reproductive organ reproductive tumor cancer of reproductive organ cancer of reproductive system malignant neoplasm of reproductive organ malignant neoplasm of reproductive system malignant reproductive organ neoplasm malignant reproductive system neoplasm reproductive organ cancer reproductive system cancer reproductive system cancer MONDO:0002150 Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; autonomic nervous system diseases; sleep disorders; behavioral symptoms related to dysfunction of the limbic system; and neuroendocrine disorders. disease of hypothalamus disease or disorder of hypothalamus disorder of hypothalamus hypothalamus disease hypothalamus disease or disorder hypothalamic disorder MONDO:0002152 intermittent heterotropia intermittent squint MONDO:0002153 A scalp hair loss condition characterized by excessive shedding of hair in the resting phase of growth, usually following a fever or major body stress. telogen effluvium MONDO:0002154 An infection that is caused by Trichomonas. Trichomonas infection infections, Trichomonas trichomoniasis MONDO:0002155 An acute or chronic inflammation involving the gallbladder wall. It may be associated with the presence of gallstones. acute and chronic cholecystitis gall bladder inflammation inflammation of gall bladder acute cholecystitis acute on chronic cholecystitis chronic cholecystitis acalculous cholecystitis gallstone cholecystitis cholecystitis MONDO:0002156 A disease involving the fallopian tube. disease of fallopian tube disease or disorder of fallopian tube disorder of fallopian tube fallopian tube disease fallopian tube disease or disorder fallopian tube disorder fallopian tube disorder MONDO:0002158 A primary or metastatic malignant neoplasm that affects the fallopian tube. Representative examples include carcinoma, carcinosarcoma, and leiomyosarcoma. tumor of the fallopian tube cancer of fallopian tube cancer of fallopian tubes fallopian tube cancer fallopian tube malignant neoplasm fallopian tube malignant tumor malignant fallopian tube neoplasm malignant fallopian tube tumor malignant neoplasm of fallopian tube malignant neoplasm of the fallopian tube malignant neoplasm of uterine tube malignant tubal tumor malignant tumor of fallopian tube malignant tumor of fallopian tubes malignant tumor of the fallopian tube malignant tumour of fallopian tube neoplasm, fallopian tube, malignant tubal cancer tumor, fallopian tube, malignant fallopian tube cancer MONDO:0002159 An aggressive malignant smooth muscle neoplasm, arising from the fallopian tube. It is characterized by a proliferation of neoplastic spindle cells. fallopian tube leiomyosarcoma leiomyosarcoma of fallopian tube fallopian tube leiomyosarcoma MONDO:0002162 An extremely rare malignant neoplasm that arises from the fallopian tube and is characterized by the presence of a benign epithelial component and a sarcomatous component. adenosarcoma of fallopian tube fallopian tube Mullerian adenosarcoma fallopian tube Müllerian adenosarcoma fallopian tube adenosarcoma fallopian tube mullerian adenosarcoma fallopian tube adenosarcoma MONDO:0002163 A well-circumscribed tumor of the thymus composed of islands of normal thymic parenchyma and mature adipose tissue. It is not clear if thymolipoma is a neoplastic or non-neoplastic lesion. Thymolipoma Thymolipomatous hamartoma lipoma of thymus thymus lipoma thymus lipoma MONDO:0002164 focal chorioretinitis MONDO:0002165 A benign or malignant neoplasm that affects the rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms. neoplasm of rectum neoplasm of the rectum rectal neoplasm rectal tumor rectum neoplasm rectum neoplasm (disease) rectum tumor tumor of rectum tumor of the rectum rectal neoplasm MONDO:0002166 An extranodal lymphoma that arises from the rectum. The majority are B-cell non-Hodgkin lymphomas. lymphoma of rectum lymphoma of the rectum primary rectal lymphoma rectal lymphoma rectum lymphoma rectum lymphoma MONDO:0002167 An aggressive malignant melanocytic neoplasm that arises from the rectum. malignant melanoma of rectum malignant melanoma of the rectum melanoma (disease) of rectum melanoma of rectum melanoma of the rectum rectal malignant melanoma rectal melanoma rectum melanoma rectum melanoma (disease) rectum malignant melanoma MONDO:0002168 A malignant soft tissue neoplasm that arises from the rectum. Representative examples include angiosarcoma, Kaposi sarcoma, and leiomyosarcoma. rectal sarcoma rectum sarcoma sarcoma of rectum sarcoma of the rectum rectum sarcoma MONDO:0002169 An adenocarcinoma arising from the rectum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectal adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma. adenocarcinoma - rectum adenocarcinoma of rectum adenocarcinoma of the rectum rectal adenocarcinoma rectum adenocarcinoma read rectum adenocarcinoma MONDO:0002170 Chronic form of otosalpingitis. chronic eustachian tube salpingitis chronic otosalpingitis otosalpingitis, chronic chronic eustachian salpingitis MONDO:0002171 A benign, intermediate, or malignant tumor that arises from the bone or soft tissue. It is characterized by the presence of multinucleated osteoclast-like giant cells. giant cell neoplasm giant cell tumor giant cell tumor (morphologic abnormality) giant cell tumor (qualifier value) giant cell tumor NOS (morphologic abnormality) giant cell tumors (morphologic abnormality) tumor of the giant cell giant cell tumors editor note: consider separate term for neoplasm (C3055 in NCIT) giant cell tumor MONDO:0002172 An inflammatory disease involving a pathogenic inflammatory response in the pharyngotympanic tube. Eustachian salpingitis Eustachian tube salpingitis inflammation of pharyngotympanic tube pharyngotympanic tube inflammation otosalpingitis MONDO:0002173 A tumor that grows from a nerve or is composed of nerve cells and nerve fibers. Note that this class represents a grouping of benign neoplasms plus non-neoplastic swellings and growth such as traumatic neuromas. In future it may be split neuroma MONDO:0002174 A membrane on the vitreal surface of the retina resulting from the proliferation of one or more of three retinal elements: (1) fibrous astrocytes; (2) fibrocytes; and (3) retinal pigment epithelial cells. Localized epiretinal membranes may occur at the posterior pole of the eye without clinical signs or may cause marked loss of vision as a result of covering, distorting, or detaching the fovea centralis. Epiretinal membranes may cause vascular leakage and secondary retinal edema. In younger individuals some membranes appear to be developmental in origin and occur in otherwise normal eyes. The majority occur in association with retinal holes, ocular concussions, retinal inflammation, or after ocular surgery. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p291) cellophane maculopathy macular puckering of retina macular retinal puckering preretinal fibrosis MONDO:0002175 degeneration of macula and posterior pole of retina degeneration of macula or posterior pole degeneration of macula and posterior pole MONDO:0002177 Abnormally high levels of insulin in the blood. hyperinsulinism (disease) hyperinsulinemia hyperinsulinism hyperinsulinism (disease) hyperinsulinism MONDO:0002178 A malignant neoplasm involving the placenta. placental tumors cancer of placenta deciduoma, malignant malignant neoplasm of placenta malignant neoplasm of the placenta malignant placenta neoplasm malignant placenta tumor malignant placental neoplasm malignant placental tumor malignant tumor of placenta malignant tumor of the placenta placenta cancer placental cancer primary malignant neoplasm of placenta placenta cancer MONDO:0002181 Non-neoplastic overgrowth of bone. bone osteophyte bone spur bony outgrowth exostosis osteophyte orbital exostosis swimmer's exostosis Editor note: compare with osteophyte exostosis MONDO:0002182 A disorder characterized by an individual's inability to comprehend or share ideas or feelings because of an impairment in language, speech, or hearing. communicative disorders communication disorder https://rarediseases.info.nih.gov/diseases/3857/muscular-fibrosis-multifocal-obstructed-vessels MONDO:0002183 A disorder involving the attachment of a tendon or ligament to a bone disease of enthesis disease or disorder of enthesis disorder of enthesis enthesis disease enthesis disease or disorder enthesopathy MONDO:0002184 Liver disease lasting six months or more, caused by an adverse drug effect. The adverse effect may result from a direct toxic effect of a drug or metabolite, or an idiosyncratic response to a drug or metabolite. drug-induced chronic hepatitis drug-induced hepatitis MONDO:0002185 Excessive thickening of bone. bone hypertrophy hypertrophy of bone hypertrophy of bone (morphologic abnormality) hyperostosis MONDO:0002186 Acute form of maxillary sinusitis. acute antritis maxillary sinusitis, acute acute maxillary sinusitis MONDO:0002187 A non-neoplastic or neoplastic disorder that affects the vulva. Representative examples include infection, Bartholin gland adenoma, and vulvar carcinoma. disorder of vulva vulvar disease vulvar disorder vulval disorder vulvar disease MONDO:0002188 A benign neoplasm that arises from sweat glands in the vulva and is characterized by the presence of lobules composed of epithelial cells with clear cytoplasm. mammalian vulva nodular hidradenoma nodular hidradenoma of mammalian vulva vulvar nodular hidradenoma vulvar nodular hidradenoma MONDO:0002189 A benign epithelial neoplasm arising from the sweat glands. It presents as a nodular lesion usually in the scalp, trunk, and proximal extremities. It is characterized by a nodular growth pattern. Complete excision is curative. nodular hidradenoma solid and cystic hidradenoma eccrine nodular hidradenoma nodular hidradenoma MONDO:0002190 A benign neoplasm that arises from eccrine ducts in the vulva and is characterized by the presence of tubules and cysts which are lined by epithelial cells in the densely fibrotic dermis. mammalian vulva syringoma syringoma of mammalian vulva vulvar syringoma vulvar syringoma MONDO:0002191 A benign sweat gland neoplasm usually affecting the lower eyelids and upper cheeks. The lesions are papular and are usually numerous. Morphologically, there are nests, cords, and tubules of epithelial cells present, surrounded by a dense stroma in the reticular dermis. eccrine syringoma syringoma syringoma MONDO:0002192 An uncommon benign lesion in the vulva. It manifests with multiple papular lesions which are purple in color. They are usually asymptomatic. Histologically, there is hyperkeratosis, papillomatosis, and dilated blood vessels in the papillary dermis. angiokeratoma of mammalian vulva mammalian vulva angiokeratoma mammalian vulva angiokeratoma of Fordyce angiokeratoma of Fordyce of mammalian vulva vulvar angiokeratoma MONDO:0002193 A benign neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma. Bartholin gland neoplasm tumor of Bartholin's gland major vestibular gland benign neoplasm Bartholin gland benign neoplasm MONDO:0002194 A benign papillary neoplasm that arises from the vulva and is characterized by the presence of a delicate fibrovascular stalk lined by squamous epithelium. There is no evidence of epithelial atypia. mammalian vulva squamous papilloma vestibular papilloma vulvar squamous papilloma vestibular papilloma MONDO:0002195 A benign, precancerous, or malignant neoplasm that arises from the squamous epithelium of the vulva. Representative examples include vestibular papilloma, intraepithelial neoplasia, and squamous cell carcinoma. mammalian vulva squamous cell neoplasm vulvar squamous neoplasm vulvar squamous tumor vulvar squamous neoplasm MONDO:0002196 perinatal intestinal perforation MONDO:0002197 A rare, benign neoplasm that arises from the vulva It is characterized by the presence of clusters of small glands lined by mucinous epithelial cells. Bartholin duct structures are not present. adenoma of minor vestibular glands minor vestibular gland adenoma minor vestibular glands adenoma MONDO:0002198 A benign or malignant neoplasm that arises from the vulva and is composed of glandular epithelial cells. Representative examples include adenoma of the minor vestibular glands, Bartholin gland adenoma, and Bartholin gland adenocarcinoma. mammalian vulva glandular cell neoplasm vulvar glandular neoplasm vulvar glandular tumor vulvar glandular neoplasm MONDO:0002199 A benign neoplasm that arises from the vulva and is characterized by the presence of epithelial cells forming nests and tubules in a fibrotic stroma. It may recur locally and complete excision is recommended. benign mixed tumor of the vulva chondroid syringoma of the vulva benign mixed tumor of the vulva MONDO:0002200 A rare, benign, slow-growing and painless neoplasm of sweat glands. It usually arises in the head and neck. It is characterized by the presence of a mesenchymal chondroid stroma, fibrosis, and epithelial structures. benign mixed tumor of skin benign mixed tumor of skin (chondroid syringoma) benign mixed tumor of the skin benign mixed tumor of the skin (chondroid syringoma) chondroid syringoma eccrine mixed tumor eccrine mixed tumor (morphologic abnormality) eccrine sweat gland mixed neoplasm mixed eccrine neoplasm of the skin mixed tumor of the skin (chondroid syringoma) eccrine mixed tumor of skin MONDO:0002201 A benign neoplasm that arises from the vulva and is characterized by the presence of nests of monomorphic basaloid cells forming small cysts that contain keratin. mammalian vulva trichoblastoma trichoblastoma of mammalian vulva vulvar trichoblastoma vulvar trichoepithelioma vulvar trichoepithelioma MONDO:0002202 outlet dysfunction constipation MONDO:0002203 Irregular and infrequent or difficult evacuation of the bowels. constipation Dyschezia colonic inertia constipation disorder MONDO:0002204 Arthritis that is not permanent. transient arthropathy transient arthritis MONDO:0002205 A usually pigmented, nodular or polypoid malignant neoplasm that originates from melanocytes and arises from the vulva. It presents with bleeding and dysuria. vulvar melanoma (disease) malignant melanoma of vulva mammalian vulva melanoma mammalian vulva melanoma (disease) melanoma (disease) of mammalian vulva vulvar melanoma vulvar melanoma (disease) vulvar melanoma MONDO:0002206 A malignant neoplasm that affects the sweat glands. cancer of sweat gland malignant neoplasm of sweat gland malignant neoplasm of the sweat gland malignant sweat gland neoplasm malignant tumor of sweat gland malignant tumor of the sweat gland sweat gland cancer sweat gland neoplasms, malignant sweat gland cancer MONDO:0002207 An uncommon intraepithelial malignant neoplasm of eccrine or apocrine origin, arising from the vulva. It usually affects post-menopausal women. In approximately 10-20% of the cases there is an associated anorectal, or urothelial carcinoma or a skin appendage adenocarcinoma identified. It presents as a red, eczematous lesion. Microscopically, it is characterized by the presence of the typical Paget cells which are large, round cells with abundant cytoplasm and prominent nuclei. Paget disease of the vulva Paget's disease of the vulva Paget's disease of vulva mammalian vulva Paget disease vulva Paget's disease vulval Paget disease vulval Paget's disease vulvar Paget's disease vulval Paget disease MONDO:0002209 A bony outgrowth on the lower surface of the calcaneus. Though often presenting along with plantar fasciitis (fasciitis, plantar), they are not considered causally related. calcaneus exostosis calcaneal spur heel spur MONDO:0002211 A broad classification of disorders where circulating numbers of B lymphocytes are decreased or ineffective. Complement components and the production of antibodies may also be deficient. B cell (antibody) deficiencies B-cell deficiency deficiency of humoral immunity immunoglobulin heavy chain deficiency immunoglobulin heavy chain deletion See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/18 B cell deficiency MONDO:0002212 A tularemia that is located in lungs. The bacteria are transmitted by breathing dusts or aerosols containing the organisms. The infection has symptom cough, has symptom chest has symptom pain, and has symptom difficulty breathing. bronchopneumonic tularemia pneumonic tularaemia pulmonary tularemia pneumonic tularemia MONDO:0002214 A germinoma (disease) that involves the brain. intracranial germinoma brain germinoma (disease) germinoma of brain germinoma of the brain brain germinoma MONDO:0002216 A sarcoma arising from the brain. brain sarcoma primary brain sarcoma sarcoma of brain sarcoma of the brain brain sarcoma MONDO:0002217 A sarcoma that arises from the central nervous system. CNS sarcoma central nervous system sarcoma sarcoma of CNS sarcoma of central nervous system sarcoma of the CNS sarcoma of the central nervous system central nervous system sarcoma MONDO:0002218 A cancer that involves the temporal lobe. cancer of temporal lobe malignant neoplasm of temporal lobe malignant temporal lobe neoplasm temporal lobe cancer temporal lobe neoplasm temporal lobe cancer MONDO:0002219 A neoplasm (disease) that involves the paraurethral gland. neoplasm of paraurethral gland neoplasm of paraurethral glands paraurethral gland neoplasm (disease) paraurethral gland tumor tumor of paraurethral gland tumor of the paraurethral gland paraurethral gland neoplasm MONDO:0002220 disorder of hard tissues of teeth teeth hard tissue disease teeth hard tissue diseases tooth hard tissue disease MONDO:0002221 Papilloma's are benign epithelial neoplasms that produce visible warty projections from epithelial surfaces. Papilloma's of the urethra typically occur just within or on the external meatus. - 2003 urethra urothelial papilloma urethral urothelial papilloma urethral urothelial papilloma MONDO:0002222 A benign smooth muscle neoplasm arising from the urethra. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. leiomyoma of the urethra leiomyoma of urethra urethra leiomyoma urethral leiomyoma urethra leiomyoma MONDO:0002223 A rare malignant mesothelial neoplasm that usually involves both the ovarian surface and the ovarian stroma. In most cases there is bilateral ovarian involvement. malignant mesothelioma (disease) of ovary ovarian malignant mesothelioma ovary malignant mesothelioma (disease) ovarian malignant mesothelioma MONDO:0002224 A cystic cancerous tumor arising from the ovary. malignant ovarian cyst malignant ovarian cyst (disease) ovarian cyst (disease), malignant malignant ovarian cyst MONDO:0002225 A rare, aggressive malignant mesenchymal neoplasm that arises from the ovary. The prognosis is poor. ovarian sarcoma ovary sarcoma sarcoma of ovary sarcoma of the ovary ovarian sarcoma MONDO:0002226 An urogenital tuberculosis involving a pathogenic inflammatory response in the ovary. tuberculous oophoritis MONDO:0002227 A lymphoma that affects the ovary. Lymphomatous involvement of the ovary is rare and in approximately half of the cases both ovaries are affected. lymphoma of ovary ovarian lymphoma ovary lymphoma primary ovarian lymphoma ovarian lymphoma MONDO:0002229 A benign, borderline, or malignant tumor that originates from the surface epithelium of the ovary. It is composed of epithelial cells and stroma. Representative examples of benign tumors include serous cystadenoma, mucinous cystadenoma, and benign Brenner tumor. Representative examples of borderline tumors include serous surface papillary tumor, mucinous adenofibroma, and borderline Brenner tumor. Representative examples of malignant tumors include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, and malignant Brenner tumor. epithelial neoplasm of ovary epithelial neoplasm of the ovary epithelial tumor of ovary epithelial tumor of the ovary ovarian epithelial tumor ovarian surface epithelial-stromal tumor ovarian surface-epithelial stromal neoplasm ovary epithelial neoplasm OVT ovary epithelial cancer ovarian epithelial tumor MONDO:0002230 An embryonal neoplasm arising from the ovary with morphologic features resembling Wilms tumor of the kidney. It occurs during the reproductive age and may present as a rapidly growing adnexal mass. ovarian Wilms tumor ovarian Wilms' tumor ovary Wilms tumor ovarian Wilms' cancer ovarian Wilms tumor MONDO:0002232 A disease involving the nasal cavity. disease of nasal cavity disease or disorder of nasal cavity disorder of nasal cavity nasal cavity disease nasal cavity disease or disorder nasal cavity disorder nasal cavity disorder MONDO:0002233 A dental caries that involves the enamel. dental caries limited to enamel dental caries of enamel enamel dental caries primary dental caries simple dental cavity enamel caries MONDO:0002234 A non-infectious or infectious inflammatory process affecting the vagina. vaginitis (disease) inflammation of vagina vagina inflammation vaginal Inflammation vaginal inflammation vaginitis vaginitis (disease) vaginitis MONDO:0002235 A benign or malignant neoplasm that affects the eyelid. Representative examples include hemangioma, nevus, and carcinoma. eyelid neoplasm eyelid neoplasm (disease) eyelid tumor neoplasm of eyelid neoplasm of the eyelid palpebral tumor tumor of eyelid tumor of the eyelid eyelid neoplasm MONDO:0002236 A benign or malignant neoplasm affecting the structures of the eye. eye neoplasm neoplasm of eye ocular tumor cancer of eye cancer of eyeball of camera-type eye cancer of the eye eye cancer eye neoplasm, malignant eyeball of camera-type eye cancer malignant eye neoplasm malignant eye tumor malignant eyeball of camera-type eye neoplasm malignant neoplasm of eye malignant neoplasm of eyeball of camera-type eye malignant neoplasm of the eye malignant ocular neoplasm malignant ocular tumor malignant tumor of eye malignant tumor of the eye neoplasm of eye proper Editor note: check to see whether structure is eye or eye + adnexa ocular cancer MONDO:0002237 An infection of cutaneous and subcutaneous tissue that consists of a cluster of boils. Commonly, the causative agent is staphylococcus aureus. Carbuncles produce fever, leukocytosis, extreme pain, and prostration. carbuncle and furuncle of any part of face except eye carbuncle and furuncle of buttock carbuncle and furuncle of face carbuncle and furuncle of foot carbuncle and furuncle of gluteal region carbuncle and furuncle of hand carbuncle and furuncle of leg except foot carbuncle and furuncle of neck carbuncle and furuncle of trunk carbuncle and furuncle of upper arm and forearm carbuncle MONDO:0002238 A malignant neoplasm involving the ascending colon. Ca ascending colon ascending colon cancer cancer of ascending colon malignant ascending colon neoplasm malignant neoplasm of ascending colon malignant neoplasm of right colon malignant tumor of ascending colon ascending colon cancer MONDO:0002239 postsurgical hypoinsulinemia post-surgical hypoinsulinemia MONDO:0002240 Acute form of perichondritis of auricle. acute perichondritis of auricle perichondritis of auricle, acute acute perichondritis of pinna MONDO:0002241 An acquired or inherited coagulation disorder due to reduced levels and activity of factor XIII. https://github.com/monarch-initiative/mondo/issues/5537 FXIIID factor XIII deficiency MONDO:0002242 Congenital or acquired deficiency of one of the coagulation factors. It results in bleeding. coagulation factor deficiency coagulation factor deficiency syndrome coagulation protein disease MONDO:0002243 Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (blood coagulation disorders) or another abnormality causing a structural flaw in the blood vessels (hemostatic disorders). bleeding diathesis bleeding disorder bleeding predisposition bleeding tendency hemorrhagic diathesis hemorrhagic disease hemorrhagic disease MONDO:0002244 A coagulation disorder characterized by the partial or complete absence of factor VII activity in the blood. F7 deficiency deficiency, stable factor 7 deficiency factor VII deficiency factor VII deficiency MONDO:0002245 Disorders caused by abnormalities in platelet count or function. platelet abnormality platelet disorder thrombocytopathy blood platelet disease MONDO:0002246 An otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it. perichondritis and chondritis of pinna perichondritis of pinna perichondritis of pinna, unspecified perichondritis of auricle MONDO:0002247 A coagulation disorder characterized by the partial or complete absence of factor X activity in the blood. factor X deficiency MONDO:0002249 A disease characterized by higher than normal platelet counts in the peripheral blood. Platelet count increased Thrombocythaemia elevated Platelet count thrombocytosis thrombocytosis disease MONDO:0002250 A syndrome which occurs as a result of the occlusion of the basilar artery. It may be caused by atherosclerosis, embolism or hemorrhage. Clinical signs include dizziness, headache, vomiting, hemiparesis or hemiplegia, dysarthria, dysphagia, blurred vision and loss of consciousness. The clinical course is variable and is dependent upon the extent of the occlusion and the location of the clot along the basilar artery which determines the resultant neurologic impairment. Prognosis is dismal in cases where a complete occlusion occurs with rapid deterioration of neurological function. basilar artery syndrome basilar artery insufficiency MONDO:0002251 An active inflammatory process affecting the liver for more than six months. Causes include viral infections, autoimmune disorders, drugs, and metabolic disorders. Hepatitis hepatitis inflammation of liver liver inflammation acute and subacute liver necrosis acute hepatitis acute/subac. necrosis of liver animal hepatitis chronic hepatitis chronic persistent hepatitis Hepatitides hepatitis MONDO:0002252 Hepatitis that is characterized by the presence of granulomas. granulomatous hepatitis MONDO:0002253 A degenerative spinal disease that can involve any part of the vertebra, the intervertebral disk, and the surrounding soft tissue. lumbar spondylosis with myelopathy lumbosacral spondylosis without myelopathy spondylogenic compression of lumbar spinal cord spondylogenic compression of thoracic spinal cord spondylosis with myelopathy thoracic or lumbar spondylosis with myelopathy spondylosis MONDO:0002254 A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition. cluster, symptom clusters, symptom symptom cluster symptom clusters syndrome syndrome associated with disease or disorder syndromes syndromic disease syndromic disease or disorder syndromic disease MONDO:0002255 hypertrophic elongation of cervix MONDO:0002256 A non-neoplastic or neoplastic disorder that affects the cervix. Representative examples include cervicitis, endocervical polyp, and carcinoma. cervical disorder disease of uterine cervix disease or disorder of uterine cervix disorder of uterine cervix uterine cervix disease uterine cervix disease or disorder cervix disorder MONDO:0002257 Fixation and immobility of a joint. ankylosis (disease) ankylosis ankylosis (disease) ankylosis MONDO:0002258 Inflammation of the throat most often caused by viral and bacterial infections. Other causes include allergens, chemical substances, and trauma. pharyngeal disease pharyngeal disorder Sore throat inflamed throat inflammation of throat throat inflammation Sore throat - chronic acute pharyngitis acute sore throat chronic pharyn/nasopharyngitis chronic pharyngitis chronic pharyngitis and nasopharyngitis chronic sore throat persistent sore throat pharyngitis - acute pharyngitis MONDO:0002259 A non-neoplastic or neoplastic disorder that affects the testis or the ovary. disease of gonad disease or disorder of gonad disorder of gonad disorder of gonads gonad disease gonad disease or disorder gonadal disorder gonadal disorders gonadal disorder MONDO:0002260 An inflammatory disease involving a pathogenic inflammatory response in the apocrine sweat gland. Hydradenitis apocrine sweat gland apocrine sweat gland inflammation inflammation of apocrine sweat gland hidradenitis MONDO:0002261 Any disorder of the cornea. keratopathy MONDO:0002262 A lymphangioma that involves the capillary. capillary lymphangioma cutaneous lymphangioma capillary lymphangioma MONDO:0002263 A disease involving the female reproductive system. disease of female reproductive system disease or disorder of female reproductive system disorder of female genital system disorder of female reproductive system female reproductive disease female reproductive system disease female reproductive system disease or disorder female reproductive system disorder disease of female genital system disorder of female genital tract gynecological disease female reproductive system disorder MONDO:0002265 Motor behavior that is repetitive, often seemingly driven, and nonfunctional. This behavior markedly interferes with normal activities or results in severe bodily self-injury. The behavior is not due to the direct physiological effects of a substance or a general medical condition. (dsm-iv, 1994) stereotyped repetitive movements stereotyped repetitive movements NOS (finding) stereotypy habit disorder stereotypic movement disorder MONDO:0002266 An extrinsic allergic alveolitis caused by infection with Aspergillus. Aspergillus caused extrinsic allergic alveolitis Aspergillus extrinsic allergic alveolitis Malt workers' lung Malt-workers' lung malt worker lung malt workers lung alveolitis due to aspergillus clavatus malt worker's lung MONDO:0002267 Any disorder marked by obstruction of conducting airways of the lung. airway obstruction may be acute, chronic, intermittent, or persistent. respiratory airway obstruction obstructive lung disease MONDO:0002268 An uncomfortable, often painful feeling in the stomach, resulting from impaired digestion. Symptoms include burning stomach pain, bloating, heartburn, nausea, and vomiting. Causes include gastritis, gastric ulcer, gastroesophageal reflux disease, pancreatic disease, and gallbladder disease. dyspepsia, indigestion indigestion dyspepsia MONDO:0002269 An inflammatory disorder that affects the upper and lower gastrointestinal tract. Most commonly, this is attributed to viruses; however bacteria, parasites or adverse reactions can also be the culprit. Symptoms include acute diarrhea and vomiting. cholera morbus inflammation of intestine intestine inflammation infectious colitis, enteritis and gastroenteritis gastroenteritis MONDO:0002270 Inflammation of the stomach resulting from viral infection. Viruses caused gastritis (disease) Viruses gastritis (disease) viral gastritis viral gastritis MONDO:0002271 A carcinoma that arises from glandular epithelial cells of the colon adenocarcinoma - colon adenocarcinoma of colon adenocarcinoma of the colon colon adenocarcinoma colonic adenocarcinoma COAD colon adenocarcinoma MONDO:0002272 A laboratory test result indicating abnormally high proliferation of gamma globulins in the blood originating from multiple cell lines. polyclonal hypergammaglobulinemia Editor note: check HP:0003459 Polyclonal elevation of IgM polyclonal hypergammaglobulinemia MONDO:0002273 An inherited metabolic disorder that involves plasma protein metabolism malfunction. plasma protein metabolism disease MONDO:0002274 A disease characterized by the presence of excessive amounts of paraprotein or single monoclonal gammaglobulin in the blood. It is usually due to an underlying immunoproliferative disorder or hematologic neoplasms, especially multiple myeloma. monoclonal paraproteinaemia monoclonal paraproteinemia paraproteinaemia monoclonal paraproteinemia disease MONDO:0002275 Atherosclerosis that is not localized. generalised atherosclerosis generalized and unspecified atherosclerosis generalized atherosclerosis MONDO:0002277 A vascular disorder characterized by thickening and hardening of the walls of the arteries. arterial sclerosis arteriosclerosis arteriosclerotic cardiovascular disease arteriosclerotic vascular disease cardiovascular arteriosclerosis vascular sclerosis arteriosclerosis disorder MONDO:0002278 A non-metastasizing neoplasm arising from the wall of the colon. colon neoplasm colonic tumor benign colon neoplasm benign colon tumor benign colonic neoplasm benign colonic tumor benign neoplasm of colon benign neoplasm of the colon benign tumor of colon benign tumor of the colon colon benign neoplasm colonic Mass colonic benign neoplasm benign colon neoplasm MONDO:0002279 Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization. disorder of iron metabolism iron disorder disorder, iron metabolism disorders, iron metabolism iron metabolism disorder metabolism disorder, iron metabolism disorders, iron iron metabolism disease MONDO:0002280 A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability. anemia (disease) anaemia anemia anemia (disease) anemia MONDO:0002281 Anemia that is characterized by increased red blood cell volume. macrocytic anemia (disease) D22S676 D22S750 anemia macrocytic macrocytic Anemia macrocytic anaemia macrocytic anaemia of unspecified cause macrocytic anemia macrocytic anemia (disease) macrocytic anemia MONDO:0002282 A mosquito-borne viral illness caused by the west nile virus, a flavivirus and endemic to regions of Africa, Asia, and Europe. Common clinical features include headache; fever; maculopapular rash; gastrointestinal symptoms; and lymphadenopathy. meningitis; encephalitis; and myelitis may also occur. The disease may occasionally be fatal or leave survivors with residual neurologic deficits. (From Joynt, Clinical Neurology, 1996, Ch26, p13; Lancet 1998 Sep 5;352(9130):767-71) West Nile virus caused disease or disorder West Nile virus disease or disorder West Nile virus infectious disease West Nile fever MONDO:0002283 A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927) neuroaxonal dystrophy MONDO:0002285 A disease involving the pupil. disease of pupil disease or disorder of pupil disorder of pupil pupil disease pupil disease or disorder pupillary disorder pupil disorder MONDO:0002286 A disease involving the renal artery. renal vascular disease vascular disorder of kidney renal artery disease MONDO:0002287 A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by metaplastic glandular cells. cystitis glandularis glandular cystitis MONDO:0002289 A disease involving the iris. disease of iris disease or disorder of iris disorder of iris iris disease iris disease or disorder iris disorder iris disorder MONDO:0002290 A malignant neoplasm that affects the clitoris. cancer of clitoris clitoral Ca clitoris cancer malignant clitoral neoplasm malignant clitoral tumor malignant clitoris neoplasm malignant clitoris tumor malignant neoplasm of clitoris malignant neoplasm of the clitoris malignant tumor of clitoris malignant tumor of the clitoris carcinoma of clitoris clitoris cancer MONDO:0002291 A granular cell tumor that involves the zone of skin. cutaneous granular cell neoplasm cutaneous granular cell tumor granular cell neoplasm of skin granular cell neoplasm of the skin granular cell skin tumor granular cell tumor of skin granular cell tumor of the skin granular cell tumor of zone of skin skin granular cell neoplasm zone of skin granular cell tumor skin granular cell tumor cutaneous granular cell tumor MONDO:0002293 A ganglioneuroma arising from the skin. cutaneous ganglioneuroma ganglioneuroma of skin ganglioneuroma of the skin skin ganglioneuroma cutaneous ganglioneuroma MONDO:0002295 A glomus tumor arising from the skin. It usually presents as a small red-blue nodule and it often associated with pain at the site. glomus neoplasm of skin glomus neoplasm of the skin glomus skin neoplasm glomus skin tumor glomus tumor of skin glomus tumor of the skin skin glomus neoplasm zone of skin glomus tumor skin glomus tumor MONDO:0002297 A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands. Epidermal appendage neoplasm Epidermal appendage tumor adnexal neoplasm of skin adnexal neoplasm of the skin adnexal tumor of skin adnexal tumor of the skin cutaneous adnexal neoplasm cutaneous appendage neoplasm cutaneous appendage neoplasm (disease) cutaneous appendage tumor neoplasm of Epidermal appendage neoplasm of cutaneous appendage neoplasm of skin appendage neoplasm of skin with adnexal differentiation neoplasm of the skin appendage skin appendage neoplasm skin appendage tumor skin appendage tumour tumor of Epidermal appendage tumor of cutaneous appendage tumor of skin appendage tumor of the skin appendage epidermal appendage tumor MONDO:0002298 A glomus tumor arising from the skin. It is characterized by the presence of dilated veins surrounded by glomus cells. cutaneous glomangioma glomangioma of skin glomangioma of the skin skin glomangioma zone of skin glomangioma cutaneous glomangioma MONDO:0002299 A morphologic variant of the glomus tumor characterized by the presence of dilated veins, surrounded by small clusters of glomus cells. Glomangiomas are most often present in patients with multiple lesions. glomangioma glomangioma MONDO:0002300 A benign, intermediate, or malignant neoplasm that arises from the dermis. dermal neoplasm dermal tumor dermis neoplasm dermis neoplasm (disease) dermis tumor neoplasm of dermis neoplasm of the dermis tumor of dermis tumor of the dermis dermis tumor MONDO:0002301 A squamous cell carcinoma that arises from the mucosal epithelial surface of the frontal sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis. epidermoid carcinoma of frontal sinus epidermoid carcinoma of the frontal sinus frontal sinus epidermoid carcinoma frontal sinus squamous cell carcinoma squamous cell carcinoma of frontal sinus squamous cell carcinoma of the frontal sinus frontal sinus squamous cell carcinoma MONDO:0002303 Blockage of the central retinal vein. central retinal Venous occlusion central retinal vein retinal vein occlusion retinal vein occlusion of central retinal vein central retinal vein occlusion MONDO:0002304 Protein S deficiency is a disorder that causes abnormal blood clotting. When someone bleeds, the blood begins a complicated series of rapid chemical reactions involving proteins called blood coagulation factors to stop the bleeding. Other proteins in the blood, such as protein S, usually regulate these chemical reactions to prevent excessive clotting. When protein S is missing (deficient), clotting may not be regulatednormally and affected individuals havean increased risk of forming a blood clot called a thrombosis. People at risk to haveprotein S deficiencyare those with an individual or family history of multiple blood clots in the veins. Treatment may include taking medication known as blood thinners to decrease the chance of developing a blood clot. Protein S deficiency Protein S deficiency disease Editor note: TODO axiomatize protein S deficiency https://rarediseases.info.nih.gov/diseases/4524/protein-s-deficiency MONDO:0002305 A condition characterized by an abnormally high level of thrombi. Causes include thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and antiphospholipid antibody syndrome. excessive blood clotting hypercoagulability hypercoagulability state hypercoagulable thrombophilia MONDO:0002306 A blepharoconjunctivitis that is characterized by fissuring, scaling, maceration and erythema of the lateral or medial canthal area. angular blepharoconjunctivitis MONDO:0002307 Inflammation of both the eyelids and the conjunctiva. blepharoconjunctivitis MONDO:0002308 Conjunctivitis that is associated with contact lens wear, and which is characterized by giant papillae in the tarsal conjunctiva. GPC giant papillary conjunctivitis https://rarediseases.info.nih.gov/diseases/8445/giant-papillary-conjunctivitis MONDO:0002309 Conjunctivitis that is characterized by the formation of papillae on the palpebral conjunctiva. papillary conjunctivitis MONDO:0002310 anterior dislocation of lens MONDO:0002311 Retinal damage resulting from diminished blood flow/oxygenation due to abnormalities of the retinal vessels. Causes include hypertension, diabetes, thrombosis, embolism, and hemorrhage. retina circulation disorder retinal vascular disorder retinal vascular disorder MONDO:0002312 A mycosis that arises from infection in an immunologically compromised host. opportunistic mycoses opportunistic systemic mycoses opportunistic mycosis MONDO:0002313 Inflammation of the cornea that is seasonal in nature. vernal conjunctivitis MONDO:0002314 Conjunctivitis that is persistent and long-standing. chronic conjunctivitis chronic conjunctivitis (disease) chronic conjunctivitis, unspecified conjunctivitis (disease), chronic chronic conjunctivitis MONDO:0002316 Inflammation or degeneration of the peripheral motor nerves. peripheral motor neuropathy HSMN HSMN - hereditary sensory and motor neuropathy hereditary motor and sensory neuropathy neuropathic muscular atrophy motor peripheral neuropathy MONDO:0002317 An illusion of movement, either of the external world revolving around the individual or of the individual revolving in space. Vertigo may be associated with disorders of the inner ear (ear, inner); vestibular nerve; brainstem; or cerebral cortex. Lesions in the temporal lobe and parietal lobe may be associated with focal seizures that may feature vertigo as an ictal manifestation. (From Adams et al., Principles of Neurology, 6th ed, pp300-1) central vestibular vertigo vertigo of central origin central nervous system origin vertigo MONDO:0002318 A benign smooth muscle neoplasm arising from the trachea. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. trachea neoplasm tracheal neoplasm tracheal tumor leiomyoma of the trachea leiomyoma of trachea trachea leiomyoma tracheal leiomyoma trachea leiomyoma MONDO:0002319 A metabolic disorder that affects the phosphate homeostasis. disorder of phosphorus metabolism phosphorus disorder phosphorus metabolic disorder phosphorus metabolism disorder phosphorus metabolism disease MONDO:0002320 An abnormality of the nervous system that is present at birth or detected in the neonatal period. congenital abnormality of the nervous system congenital nervous system disorder congenital neurologic anomaly congenital nervous system disorder MONDO:0002321 Inflammation or degeneration of the sensory nerves. peripheral neuropathy of sensory nerve peripheral sensory neuropathy sensory nerve peripheral neuropathy sensory neuropathy sensory peripheral neuropathy MONDO:0002322 Acquired degenerative dilation or expansion (ectasia) of normal blood vessels, often associated with aging. They are isolated, tortuous, thin-walled vessels and sources of bleeding. They occur most often in mucosal capillaries of the gastrointestinal tract leading to gastrointestinal hemorrhage and anemia. angiodysplasia of stomach and duodenum with hemorrhage angiodysplasia MONDO:0002323 A capillary hemangioma of the skin, presenting as a red papular lesion. Senile angioma Senile hemangioma Senile naevus of skin cherry angioma cherry hemangioma cherry hemangioma MONDO:0002325 Progressive loss of tooth tissue by chemical processes that do not involve bacterial action. (Jablonski, Dictionary of Dentistry, 1992, p296) tooth erosion generalized erosion localized erosion tooth erosion, non-bacterial MONDO:0002326 alcohol-induced mental disorder MONDO:0002327 A cavernous hemangioma arising from the brain and meninges. intracranial cavernoma intracranial cavernous angioma intracranial cavernous hemangioma intracranial cavernous angioma MONDO:0002328 A hemangioma arising from the brain and meninges. brain hemangioma angioma of intracranial structure angioma of the intracranial structure hemangioma of brain hemangioma of intracranial structure hemangioma of intracranial structures hemangioma of the intracranial structure intracranial angioma intracranial hemangioma intracranial structure hemangioma intracranial hemangioma MONDO:0002329 A non-neoplastic or neoplastic disorder affecting the testis. Representative examples include torsion, infarction, germ cell tumor, sex cord-stromal tumor, lymphoma, and leukemia. disease of testis disease or disorder of testis disorder of testis testicular disease testicular disorder testis disease testis disease or disorder testis disorder testicular disorder MONDO:0002330 A group of mental disorders associated with organic brain damage and caused by poisoning from alcohol. alcoholic psychoses alcoholic psychosis MONDO:0002331 Pathological processes of the KIDNEY without inflammatory or neoplastic components. Nephrosis may be a primary disorder or secondary complication of other diseases. It is characterized by the NEPHROTIC SYNDROME indicating the presence of PROTEINURIA and HYPOALBUMINEMIA with accompanying EDEMA. Nephroses nephrosis MONDO:0002332 A disease involving the spleen. Dyssplenism disease of spleen disease or disorder of spleen disorder of spleen spleen disease spleen disease or disorder spleen disorder splenic disease splenic disorder splenic disorder MONDO:0002333 An abscess that is located in the spleen. splenic abscess (disease) splenic abscess splenic abscess (disease) splenic abscess MONDO:0002334 Neoplasms of the hematopoietic system, including hematopoietic cell neoplasms (e.g. leukemias, lymphomas) and non-hematopoietic cell neoplasms that can affect the hematopoietic system (e.g. lymph node and splenic sarcomas). --2003 hematologic neoplasm hematopoietic neoplasm hematopoietic neoplasm (morphologic abnormality) blood neoplasm (disease) blood tumor hematological tumors hematopoietic and lymphoid system neoplasm hematopoietic and lymphoid system tumor hematopoietic system neoplasm hematopoietic system tumor hematopoietic tumors neoplasm of blood neoplasm of hematopoietic system tumor of blood tumor of hematopoietic system blood cancer hematologic malignancy hematopoietic cancer malignant hematopoietic neoplasm (morphologic abnormality) hematologic cancer hematopoietic and lymphoid system neoplasm MONDO:0002335 An immunologic inflammatory disorder characterized by loss of myelin in the peripheral nerves. Patients present with progressive weakness and loss of sensory function in the legs and arms. chronic inflammatory demyelinating polyneuropathy Editor note: todo add polyneuritis chronic inflammatory demyelinating polyneuritis MONDO:0002337 A hemangioma arising from organs within the abdominal cavity. abdominal cavity hemangioma hemangioma of abdominal cavity hemangioma of intra-abdominal structure hemangioma of intra-abdominal structures hemangioma, intra-abdominal intra-abdominal hemangioma intra-abdominal hemangioma MONDO:0002338 An epilepsy syndrome that is located in an area of the brain other than the temporal lobe. extratemporal epilepsy extratemporal epilepsy MONDO:0002340 tactile epilepsy MONDO:0002341 Inflammation of the arteries that is characterized by the presence of granulomas. Granulomatous arteritis granulomatous angiitis MONDO:0002342 Pathological processes involving the chondral tissue (cartilage). chondromalacia MONDO:0002343 A hemangioma arising from the spleen. angioma of spleen angioma of the spleen hemangioma of spleen hemangioma of the spleen spleen angioma spleen hemangioma splenic angioma splenic hemangioma splenic hemangioma MONDO:0002345 An acute or chronic inflammatory process that affects the cervix. Causes include sexually transmitted diseases and bacterial infections. Clinical manifestations include abnormal vaginal bleeding and vaginal discharge. cervicitis (disease) cervicitis cervicitis (disease) cervicitis MONDO:0002347 A drug dependence that involves the continued use of barbiturates despite problems related to use of the substance. barbiturate dependence MONDO:0002350 An instance of nephrotic syndrome that is caused by an inherited modification of the individual's genome. congenital nephrotic syndrome hereditary nephrotic syndrome familial nephrotic syndrome MONDO:0002351 A malignant neoplasm that affects the glottic area of the larynx. The vast majority of cases represent squamous cell carcinomas. Ca larynx - glottis cancer of glottis glottis cancer malignant glottis neoplasm malignant glottis tumor malignant neoplasm of glottis malignant neoplasm of the glottis malignant tumor of glottis malignant tumor of the glottis glottis cancer MONDO:0002352 A primary or metastatic malignant neoplasm involving the larynx. The majority are carcinomas. cancer of larynx larynx cancer malignant laryngeal neoplasm malignant laryngeal tumor malignant larynx neoplasm malignant larynx tumor malignant neoplasm of larynx malignant neoplasm of the larynx malignant tumor of larynx malignant tumor of the larynx larynx cancer MONDO:0002353 A benign or malignant neoplasm that affects the glottic area of the larynx. glottis neoplasm glottis neoplasm (disease) glottis tumor neoplasm of glottis neoplasm of the glottis tumor of glottis tumor of the glottis glottis neoplasm MONDO:0002354 A non-metastasizing neoplasm that arises from the larynx. Representative examples include squamous papilloma and hemangioma. laryngeal tumor larynx neoplasm benign laryngeal neoplasm benign laryngeal tumor benign larynx neoplasm benign larynx tumor benign neoplasm of larynx benign neoplasm of the larynx benign tumor of larynx benign tumor of the larynx laryngeal neoplasm, benign larynx benign neoplasm laryngeal benign neoplasm benign laryngeal neoplasm MONDO:0002355 A carcinoma that arises from epithelial cells of the glottis. cancer of glottis cancer of the glottis glottic throat cancer glottis cancer carcinoma of glottis carcinoma of the glottis glottic carcinoma glottis carcinoma glottis carcinoma MONDO:0002356 A non-neoplastic or neoplastic disorder that affects the pancreas. Representative examples of non-neoplastic disorders include pancreatitis and pancreatic insufficiency. Representative examples of neoplastic disorders include cystadenomas, carcinomas, lymphomas, and neuroendocrine neoplasms. disease of pancreas disease or disorder of pancreas disorder of pancreas pancreas disease pancreas disease or disorder pancreatic disorder disease, pancreatic diseases, pancreatic pancreatic disease pancreas disorder MONDO:0002357 A malignant neoplasm involving the hepatic flexure of colon. Ca hepatic flexure - colon cancer of hepatic flexure of colon hepatic flexure of colon cancer malignant hepatic flexure of colon neoplasm malignant neoplasm of hepatic flexure malignant neoplasm of hepatic flexure of colon malignant tumor of hepatic flexure hepatic flexure cancer MONDO:0002358 Carcinoma that arises from the laryngeal epithelium. More than 90% of laryngeal carcinomas are squamous cell carcinomas. The remainder are adenoid cystic carcinomas, mucoepidermoid carcinomas and carcinomas with neuroendocrine differentiation. cancer of larynx cancer of the larynx laryngeal cancer laryngeal throat cancer carcinoma of larynx carcinoma of the larynx laryngeal carcinoma larynx carcinoma laryngeal carcinoma MONDO:0002359 A benign neoplasm of bone surface composed of hyaline cartilage. It arises beneath the periosteum and is characterized by the presence of chondrocytes, a lobulated growth pattern, and calcification. juxtacortical chondroma juxtacortical chondroma (morphologic abnormality) periosteal chondroma periosteal chondroma MONDO:0002360 A benign well circumscribed neoplasm of hyaline cartilage arising from bone or soft tissue. It is characterized by the presence of chondrocytes. central chondroma chondroma chondroma, benign chondroma https://rarediseases.info.nih.gov/diseases/6052/chondroma MONDO:0002361 A malignant neoplasm involving the transverse colon. Ca transverse colon cancer of transverse colon malignant neoplasm of transverse colon malignant transverse colon neoplasm malignant tumor of transverse colon transverse colon cancer transverse colon cancer MONDO:0002362 A non-invasive papillary serous epithelial neoplasm usually arising from the ovary. serous surface papilloma serous surface papilloma (morphologic abnormality) serous surface papilloma NOS (morphologic abnormality) serous surface papilloma MONDO:0002363 A benign epithelial neoplasm that projects above the surrounding epithelial surface and consists of villous or arborescent outgrowths of fibrovascular stroma. papilloma papilloma (except papilloma of bladder M-81201) (morphologic abnormality) papilloma, benign papillomatosis NOS (morphologic abnormality) papilloma MONDO:0002365 A hemangiopericytoma arising from the kidney. hemangiopericytoma of kidney hemangiopericytoma of the kidney kidney hemangiopericytoma kidney spindle cell tumor renal hemangiopericytoma kidney hemangiopericytoma MONDO:0002366 Benign and malignant neoplasms which arise from or directly involve the central or peripheral elements of the autonomic nervous system. autonomic nervous system neoplasm autonomic nervous system neoplasm (disease) autonomic nervous system neoplasms autonomic nervous system tumor neoplasm of autonomic nervous system neoplasm of the autonomic nervous system tumor of autonomic nervous system tumor of the autonomic nervous system autonomic nervous system neoplasm MONDO:0002367 Primary or metastatic malignant neoplasm involving the kidney. cancer of kidney kidney cancer malignant kidney neoplasm malignant kidney tumor malignant neoplasm of kidney malignant neoplasm of kidney except pelvis malignant neoplasm of the kidney malignant renal neoplasm malignant renal tumor malignant tumor of kidney malignant tumor of the kidney malignant tumour of kidney kidney cancer MONDO:0002368 A malignant cystic serous epithelial neoplasm characterized by the presence of malignant glandular epithelial cells forming papillary structures. Stromal invasion is present. papillary serous carcinoma papillary serous adenocarcinoma papillary serous cystadenocarcinoma serous surface papillary carcinoma (morphologic abnormality) micropapillary serous carcinoma papillary serous cystadenocarcinoma MONDO:0002369 A benign or borderline cystic epithelial neoplasm arising from the glandular epithelium. The epithelial cells line the cystic spaces which contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenomas. cystadenoma cystadenoma (morphologic abnormality) cystadenoma, benign cystoma cystadenoma MONDO:0002370 A benign, borderline, or malignant transitional cell neoplasm arising from the ovary. It constitutes between 1% and 2% of all ovarian neoplasms. The average age at presentation is about 50 years. Grossly it is usually unilateral, firm and white or yellowish. Microscopically it consists of solid and cystic nests of epithelial cells resembling transitional epithelium surrounded by an abundant stromal component of dense, fibroblastic nature. https://github.com/monarch-initiative/mondo/issues/5537 Brenner tumor Brenner neoplasm of ovary Brenner neoplasm of the ovary Brenner tumor of ovary Brenner tumor of the ovary ovarian Brenner neoplasm ovarian Brenner tumor ovary Brenner tumor benign ovarian Brenner tumor ovarian Brenner tumor MONDO:0002371 A morphologic variant of breast fibroadenoma without clinical significance. It is characterized by circumferential proliferation of stromal cells around the ducts. This results in the formation of rounded ductal-epithelial structures. breast pericanalicular fibroadenoma pericanalicular breast fibroadenoma pericanalicular fibroadenoma pericanalicular fibroadenoma (morphologic abnormality) pericanalicular fibroadenoma of breast pericanalicular fibroadenoma of the breast breast pericanalicular fibroadenoma MONDO:0002372 A teratoma of the ovary composed exclusively or predominantly of a single type of tissue derived from the ectoderm or endoderm. A representative example is struma ovarii which is a teratoma composed exclusively or predominantly of thyroid tissue. ovarian germ cell monodermal and highly specialized teratoma ovarian monodermal and highly specialized teratoma ovarian monodermal and highly specialized teratoma MONDO:0002373 A benign proliferative neoplasm made up of epithelial and mesenchymal cells of the mesothelium which make up part of the serosal covering and lining of various organ surfaces within the body. benign tumor of mesothelial tissue benign tumor of mesothelium mesothelioma, benign benign mesothelioma MONDO:0002375 A benign, well circumscribed neoplasm arising from the sebaceous glands. It usually presents as a small yellowish tumor in the sun exposed skin of head and neck. It is characterized by the presence of sebaceous cells aggregates with a peripheral rim of basaloid cells. adenoma of sebaceous gland adenoma of the sebaceous gland adenoma, sebaceous, benign sebaceous adenoma (morphologic abnormality) sebaceous gland adenoma skin appendage sebaceous adenoma sebaceous adenoma MONDO:0002376 A malignant vascular neoplasm arising from the spleen. angiosarcoma (disease) of spleen angiosarcoma of spleen angiosarcoma of the spleen hemangiosarcoma of spleen hemangiosarcoma of the spleen spleen angiosarcoma (disease) splenic angiosarcoma splenic hemangiosarcoma spleen angiosarcoma MONDO:0002377 A morphologic variant of breast fibroadenoma without clinical significance. It is characterized by distortion and compression of the ducts by proliferating stromal cells. breast intracanalicular fibroadenoma intracanalicular breast fibroadenoma intracanalicular fibroadenoma intracanalicular fibroadenoma of breast intracanalicular fibroadenoma of the breast breast intracanalicular fibroadenoma MONDO:0002378 A mature teratoma characterized by the presence of a cyst which is lined by mature tissue resembling the epidermis and the epidermal appendages. It occurs in the ovary, testis, and extragonadal sites including central nervous system and skin. benign cystic teratoma cystic dermoid choristoma dermoid dermoid choristoma dermoid cyst dermoid cyst, benign dermoid tumor dermoid tumour mature cystic teratoma subcutaneous cystic teratoma teratoma, benign teratoma, benign (morphologic abnormality) dermoid cyst MONDO:0002379 cystic teratoma cystic teratoma MONDO:0002380 A benign or malignant tumor characterized by the presence of cells that show myoepithelial differentiation. Based on its morphologic features, it is classified as benign or malignant. A representative example of benign myoepithelioma is benign salivary gland myoepithelioma. Representative examples of malignant myoepithelioma or myoepithelial carcinoma are malignant breast myoepithelioma and salivary gland myoepithelial carcinoma. myoepithelial adenoma myoepithelial neoplasm myoepithelial tumor myoepithelioma benign myoepithelioma myoepithelial tumor MONDO:0002381 A benign or malignant neoplasm arising from the sweat glands. neoplasm of sweat gland neoplasm of the sweat gland sweat gland neoplasm sweat gland neoplasm (disease) sweat gland neoplasms sweat gland tumor sweat gland tumor (morphologic abnormality) sweat gland tumor NOS (morphologic abnormality) tumor of sweat gland tumor of the sweat gland sweat gland neoplasm MONDO:0002382 A term describing a benign soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation. mesenchymal tumor, benign mesenchymoma, benign mesenchymoma, benign (morphologic abnormality) benign mesenchymoma MONDO:0002383 A neurofibroma characterized by the presence of structures which resemble Vater-Pacini corpuscles. Pacinian neurofibroma Pacinian tumor (morphologic abnormality) Pacinian tumor MONDO:0002385 A benign encapsulated neoplasm of the kidney, characterized by the presence of cysts separated by septa. There are no solid areas present. The septa are lined by one layer of epithelial cells that have eosinophilic or clear cytoplasm. The cystic spaces contain serous or hemorrhagic fluid. benign cystic nephroma benign multilocular cystic nephroma cystic nephroma benign cystic nephroma MONDO:0002386 A rare, usually benign neoplasm that arises from the kidney. It usually affects females. It is characterized by the presence of a biphasic pattern with tubular and cystic structures in a spindle cell stroma. Patients usually present with flank pain and hematuria. MEST benign MEST mixed epithelial and stromal tumour of kidney mixed epithelial stromal tumor of the kidney adult mesoblastic nephroma mixed epithelial stromal tumor of the kidney MONDO:0002387 A malignant vascular neoplasm arising from the liver. angiosarcoma (disease) of liver angiosarcoma of liver angiosarcoma of the liver hemangiosarcoma of liver hemangiosarcoma of the liver hepatic angiosarcoma hepatic hemangiosarcoma liver angiosarcoma liver angiosarcoma (disease) liver hemangiosarcoma primary angiosarcoma of liver primary angiosarcoma of the liver Lias liver angiosarcoma https://rarediseases.info.nih.gov/diseases/5813/angiosarcoma-of-the-liver MONDO:0002388 A papillary epithelial neoplasm arising in a cystically dilated breast duct. intracystic papillary adenoma intracystic papillary adenoma (morphologic abnormality) intracystic papilloma intracystic papillary adenoma MONDO:0002395 An adenoma arising from the renal cortex. adenoma, renal cell, benign kidney adenoma renal adenoma renal cell adenoma renal cell adenoma (morphologic abnormality) renal tubule adenoma renal adenoma MONDO:0002396 A benign, solitary, and partially cystic neoplasm arising from the kidney. It occurs in children and adults. Presenting symptoms include hematuria and polycythemia. It is characterized by the presence of epithelial nodules embedded in a stroma containing spindle cells. metanephric adenofibroma nephrogenic adenofibroma MONDO:0002397 A malignant soft tissue neoplasm that arises from the liver. Representative examples include angiosarcoma, undifferentiated (embryonal) sarcoma, rhabdomyosarcoma, and leiomyosarcoma. hepatic sarcoma liver sarcoma sarcoma of liver sarcoma of the liver liver sarcoma MONDO:0002398 A benign adenofibroma characterized by the presence of epithelial cells which contain intracytoplasmic mucin and a fibrotic stroma. A representative example is the ovarian mucinous adenofibroma. Cases with epithelial atypia described in the ovary lacking stromal invasion are designated as borderline mucinous adenofibromas and have a low grade malignant potential. mucinous adenofibroma mucinous adenofibroma MONDO:0002399 A well-circumscribed, lobulated tumor, completely or partially covered by a fibrous capsule. It usually arises in the fingers. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. The tumor is slow-growing, usually developing over several years. Clinical presentation includes painless edema of the affected site. localized giant cell neoplasm of Tenosynovium localized giant cell neoplasm of tendon sheath localized giant cell neoplasm of the Tenosynovium localized giant cell tumor of Tenosynovium localized giant cell tumor of tendon sheath localized giant cell tumor of the Tenosynovium localized tenosynovial giant cell neoplasm localized tenosynovial giant cell tumor nodular tenosynovitis synovioma, benign (morphologic abnormality) tenosynovial giant cell tumor, localized type benign synovioma benign tumor of synovium tenosynovial giant cell tumor, localized type MONDO:0002400 Inflammation of a synovial membrane. synovitis (disease) inflammation of synovial membrane of synovial joint synovial membrane of synovial joint inflammation synovitis synovitis (disease) Synovitides synovitis MONDO:0002401 An uncommon malignant tumor arising from the tendon sheath. Morphologically, it is characterized by the presence of a cellular infiltrate reminiscent of a giant cell tumor with prominent malignant characteristics. Recurrent giant cell tumors with a sarcomatous dedifferentiation are included in this category as well. giant cell tumour of tendon sheath, malignant malignant giant cell neoplasm of tendon sheath malignant giant cell neoplasm of the tendon sheath malignant giant cell tumor of tendon sheath malignant giant cell tumor of the tendon sheath malignant tendon sheath giant cell neoplasm malignant tendon sheath giant cell tumor malignant tenosynovial giant cell tumor tenosynovial giant cell tumor, malignant malignant tenosynovial giant cell tumor MONDO:0002402 A malignant neoplasm characterized by then presence of atypical giant cells. giant cell tumor, malignant malignant giant cell neoplasm malignant giant cell tumor malignant tumor, giant cell type malignant tumor, giant cell type (morphologic abnormality) malignant giant cell tumor MONDO:0002403 A cancer that involves the layer of synovial tissue. cancer of layer of synovial tissue cancer of synovial membrane of synovial joint layer of synovial tissue cancer malignant layer of synovial tissue neoplasm malignant neoplasm of layer of synovial tissue malignant neoplasm of synovial membrane of synovial joint malignant neoplasm of synovium malignant neoplasm of the synovium malignant synovial membrane of synovial joint neoplasm malignant synovial neoplasm malignant synovial tumor malignant tumor of synovium malignant tumor of the synovium synovial membrane of synovial joint cancer synovium cancer MONDO:0002404 A hemangioma arising from the liver. angioma of liver hemangioma of liver hepatic angioma liver hemangioma angioma of the liver hemangioma of the liver hepatic hemangioma liver angioma liver hemangioma MONDO:0002405 A non-neoplastic or neoplastic vascular disorder that affects the liver. Representative examples include veno-occlusive disease, hemangioma, lymphangioma, and angiosarcoma. hepatic vascular disorder liver vascular disorder vascular disorder of liver hepatic vascular disorder MONDO:0002406 An inflammatory process affecting the skin. Signs include red rash, itching, and blister formation. Representative examples are contact dermatitis, atopic dermatitis, and seborrheic dermatitis. inflammation of skin inflammation of the skin inflammation of zone of skin inflammatory skin disease skin inflammation zone of skin inflammation dermatitis MONDO:0002407 A common hemangioma characterized by the presence of capillary-sized vascular channels without prominent epithelioid endothelial cells. capillary angioma capillary hemangioma capillary hemangioma (morphologic abnormality) congenital vascular hamartoma congenital vascular naevus strawberry haemangioma strawberry nevus strawberry nevus of skin cellular hemangioma of infancy cellular hemangioma of infancy (strawberry nevus) infantile hemangioma juvenile hemangioma capillary hemangioma MONDO:0002408 An inherited disorder affecting the metabolism of bilirubin. It results in increased levels of bilirubin in the blood. Representative examples of this condition include Gilbert syndrome and Crigler-Najjar syndrome. bilirubin metabolic disorder hyperbilirubinaemia hyperbilirubinemia hereditary hyperbilirubinemia hereditary hyperbilirubinemia MONDO:0002409 A disease involving the auditory system. auditory disease auditory system disease auditory system disease or disorder disease of auditory system disease or disorder of auditory system disorder of auditory system ear and mastoid disease auditory system disorder MONDO:0002410 pyeloureteritis cystica MONDO:0002411 A disorder characterized by an enduring pattern of grandiose beliefs and arrogant behavior together with an overwhelming need for admiration and a lack of empathy for (and even exploitation of) others. narcissistic personality disorder MONDO:0002412 An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues. https://github.com/monarch-initiative/mondo/issues/4985 GSD glycogen metabolism disorder glycogen storage disease glycogen storage disorder glycogenoses glycogenosis inborn error of glycogen metabolic process inborn glycogen metabolic process disorder inborn glycogen storage disorder rare inborn error of glycogen metabolic process disorder of glycogen metabolism MONDO:0002413 Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b, and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver. G6P deficiency GSD due to G6P deficiency GSD type 1 GSD type I GSD1 deficiency of glucose-6-phosphatase glycogen storage disease I glycogen storage disease due to G6P deficiency glycogen storage disease due to glucose-6-phosphatase deficiency glycogen storage disease type 1 glycogen storage disease type I glycogen storage disease, type I glycogenosis type 1 glycogenosis type I hepatorenal glycogenosis von Gierke disease von Gierke's disease glycogen storage disease I MONDO:0002414 A hemangioma arising from the stomach. angioma of stomach angioma of the stomach gastric angioma gastric hemangioma hemangioma of stomach hemangioma of the stomach stomach hemangioma gastric hemangioma MONDO:0002415 A carcinoma that involves the bone element. bone element carcinoma carcinoma of bone element bone carcinoma MONDO:0002416 A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis. epidermoid carcinoma of ethmoid sinus epidermoid carcinoma of ethmoidal sinus epidermoid carcinoma of the ethmoid sinus epidermoid carcinoma of the ethmoidal sinus ethmoid sinus epidermoid carcinoma ethmoid sinus squamous cell carcinoma ethmoidal sinus epidermoid carcinoma ethmoidal sinus squamous cell carcinoma squamous cell carcinoma of ethmoid sinus squamous cell carcinoma of ethmoidal sinus squamous cell carcinoma of the ethmoid sinus squamous cell carcinoma of the ethmoidal sinus ethmoid sinus squamous cell carcinoma MONDO:0002418 A carcinoma that arises from glandular epithelial cells of the epithelial cell adenocarcinoma of the ethmoid sinus adenocarcinoma of ethmoid sinus ethmoid sinus adenocarcinoma MONDO:0002419 A neurological disorder presenting in childhood that is characterized by motor and/or phonic tics that occur daily or nearly daily for one to twelve months and are not attributed to an identifiable cause. benign Tic disorder of childhood transient tic disorder MONDO:0002420 Disorders characterized by recurrent TICS that may interfere with speech and other activities. Tics are sudden, rapid, nonrhythmic, stereotyped motor movements or vocalizations which may be exacerbated by stress and are generally attenuated during absorbing activities. Tic disorders are distinguished from conditions which feature other types of abnormal movements that may accompany another another condition. (From DSM-IV, 1994) tic disorder MONDO:0002422 A low grade malignant neoplasm arising from the long bones. The tibia is the most frequently affected bone site. Patients present with swelling which may or may not be associated with pain. Morphologically, it is characterized by a biphasic pattern consisting of an epithelial and an osteofibrous component. The vast majority of cases recur if they are not treated with radical surgery. In a minority of cases the tumor may metastasize to other anatomic sites including lymph nodes, lungs, liver, brain, and skeleton. Extragnathic adamantinoma adamantinoma adamantinoma of long bones adamantinoma of long bones (morphologic abnormality) adamantinoma, malignant long bone adamantinoma adamantinoma of long bone adamantinoma MONDO:0002423 A benign or malignant neoplasm that affects the rectosigmoid region. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectosigmoid adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms. neoplasm of rectosigmoid junction neoplasm of the rectosigmoid junction rectosigmoid junction neoplasm (disease) rectosigmoid junction tumor rectosigmoid neoplasm rectosigmoid tumor tumor of rectosigmoid junction tumor of the rectosigmoid junction rectosigmoid junction neoplasm MONDO:0002424 A malignant epithelial neoplasm that arises from the rectosigmoid area and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. About 50% of colorectal carcinomas occur in the rectosigmoid area. carcinoma of rectosigmoid junction rectosigmoid cancer rectosigmoid carcinoma rectosigmoid junction carcinoma rectosigmoid carcinoma MONDO:0002425 A primary or metastatic malignant neoplasm that affects the rectosigmoid area. Representative examples include carcinoma, lymphoma, and sarcoma. cancer of rectosigmoid junction malignant neoplasm of rectosigmoid malignant neoplasm of rectosigmoid junction malignant neoplasm of the rectosigmoid junction malignant rectosigmoid junction neoplasm malignant rectosigmoid neoplasm malignant rectosigmoid tumor malignant tumor of rectosigmoid junction malignant tumor of the rectosigmoid junction rectosigmoid junction cancer rectosigmoid junction cancer MONDO:0002426 A malignant mesenchymal neoplasm that arises from the lung. Representative examples include Kaposi sarcoma, leiomyosarcoma, and synovial sarcoma. lung sarcoma pulmonary sarcoma sarcoma of lung sarcoma of the lung lung sarcoma MONDO:0002427 Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, gait ataxia, and muscle hypotonia. cerebellum disease cerebellum disease or disorder disease of cerebellum disease or disorder of cerebellum disorder of cerebellum cerebellar disorder MONDO:0002428 An infection that is caused by protozoans. protozoal infection Mastigophora infectious disease sarcomastigophora infectious disease parasitic protozoa infectious disease protozoa infectious disease MONDO:0002429 A class of diffuse lung diseases that typically affect the pulmonary interstitium, although some also have a component affecting the airways (for instance, Cryptogenic organizing pneumonitis). IIp diffuse idiopathic pulmonary fibrosis idiopathic fibrosing alveolitis idiopathic interstitial pneumonitis noninfectious pneumonia IPF idiopathic interstitial pneumonia MONDO:0002432 A malignant neoplasm involving the vestibulocochlear nerve. cancer of the vestibulocochlear nerve cancer of vestibulocochlear nerve malignant acoustic nerve neoplasm malignant acoustic nerve tumor malignant eighth cranial nerve neoplasm malignant eighth cranial nerve tumor malignant neoplasm of eighth cranial nerve malignant neoplasm of the acoustic nerve malignant neoplasm of the eighth cranial nerve malignant neoplasm of the vestibulocochlear nerve malignant neoplasm of vestibulocochlear nerve malignant tumor of acoustic nerve malignant tumor of acoustic vestibular nerve malignant tumor of eighth cranial nerve malignant tumor of the acoustic nerve malignant tumor of the eighth cranial nerve malignant tumor of the vestibulocochlear nerve malignant tumor of vestibulocochlear nerve malignant tumour of acoustic vestibular nerve malignant vestibulocochlear nerve neoplasm malignant vestibulocochlear nerve tumor vestibulocochlear nerve cancer malignant neoplasm of acoustic nerve MONDO:0002433 Abnormal malignant growth of the cells that comprise the cranial nerve. cancer of cranial nerve cranial nerve cancer cranial nerve neoplasm, malignant malignant cranial nerve neoplasm malignant cranial nerve tumor malignant neoplasm of cranial nerve malignant neoplasm of cranial nerves malignant neoplasm of the cranial nerve malignant tumor of cranial nerve malignant tumor of the cranial nerve cranial nerve malignant neoplasm malignant cranial nerve neoplasm MONDO:0002434 A cancer involving a oculomotor nerve. IIIrd cranial nerve neoplasm, malignant cancer of oculomotor nerve malignant neoplasm of oculomotor nerve malignant oculomotor nerve neoplasm oculomotor nerve cancer oculomotor nerve neoplasm, malignant primary malignant neoplasm of oculomotor nerve malignant oculomotor nerve tumor oculomotor nerve cancer MONDO:0002435 A neoplasm involving a oculomotor nerve. IIIrd cranial nerve tumor neoplasm of oculomotor nerve oculomotor nerve neoplasm oculomotor nerve neoplasm (disease) oculomotor nerve tumor tumor of oculomotor nerve cranial nerve III tumor oculomotor nerve neoplasm MONDO:0002436 A disease involving the nose. disease of nose disease or disorder of nose disorder of nose disorder of the nose nasal disorder nose disease nose disease or disorder nasal disorder MONDO:0002437 Polycythemia resulting from dehydration. dehydration polycythemia MONDO:0002438 An instance of polycythemia that is acquired during the lifetime of the individual. acquired polycythemia acquired polycythemia (disease) polycythemia, secondary acquired polycythemia MONDO:0002440 Polycythemia that is caused by excess erythropoietin. nephrogenous polycythemia polycythaemia due to Excess erythropoetin production polycythemia due to excess erythopoetin production polycythemia, nephrogenous secondary polycythemia with excess erythropoietin erythropoietin polycythemia MONDO:0002441 An autosomal recessive inherited syndrome caused by mutations in the KCNE1 and KCNQ1 genes. It is characterized by congenital hearing loss and arrhythmia. It is a form of long QT syndrome. Jervell Lange-Nielsen syndrome Jervell and Lange Nielsen syndrome Jervell and Lange-Nielson syndrome Jervell-Lange Nielsen syndrome long QT interval-deafness syndrome Cardioauditory syndrome of Jervell and Lange-Nielsen JLNS1 Jervell and Lange-Nielsen syndrome 1 Jervell and Lange-Nielsen syndrome type 1 Surdo-cardiac syndrome deafness, congenital, and functional heart disease prolonged QT interval in EKG and sudden death Jervell and Lange-Nielsen syndrome https://rarediseases.info.nih.gov/diseases/3048/jervell-lange-nielsen-syndrome MONDO:0002442 A condition that is characterized by episodes of fainting (syncope) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are Romano-Ward syndrome (also known as long QT syndrome 1) and Jervell-Lange Nielsen syndrome. LQT long Q-T syndrome long QT syndrome ventricular arrhythmia associated with long QT syndrome long QT syndrome MONDO:0002443 Excessive clenching of the jaw and grinding of the teeth. https://github.com/monarch-initiative/mondo/issues/5537 bruxism (disease) bruxism bruxism (disease) bruxism - teeth grinding grinding teeth sleep related bruxism teeth grinding bruxism MONDO:0002444 A subtype of depression characterized by the inability to find pleasure in positive things combined with physical agitation, insomnia, or decreased appetite. depression with melancholic features melancholic depression melancholia MONDO:0002447 A malignant tumor arising from the epithelium that lines the cavity of the uterine body. The vast majority of endometrial carcinomas are adenocarcinomas; squamous cell and adenosquamous carcinomas represent a minority of the cases. Endometrioid adenocarcinoma is the most frequently seen variant of endometrial adenocarcinoma. Uterine bleeding is an initial clinical sign. The prognosis depends on the stage of the tumor, the depth of myometrial wall invasion, and the degree of differentiation. endometrial carcinoma (disease) endometrial cancer carcinoma of endometrium carcinoma of the endometrium carcinoma, endometrial, malignant endometrial carcinoma endometrial carcinoma (disease) endometrium carcinoma endometrial carcinoma MONDO:0002448 A rare malignant soft tissue neoplasm that arises from the larynx. laryngeal sarcoma larynx sarcoma sarcoma of larynx sarcoma of the larynx laryngeal sarcoma MONDO:0002449 nodular degeneration of cornea MONDO:0002450 Focal benign glandular hyperplasia in the prostate gland. adenoma - prostate adenoma of prostate adenoma of the prostate benign adenoma of prostate prostate adenoma prostate gland adenoma prostatic adenoma MONDO:0002451 A rare benign neoplasm that arises from the prostate gland and is characterized by the presence of hyperplastic glands and stroma that contains spindle-shaped cells. phyllodes neoplasm of the prostate prostate phyllodes tumor benign phyllodes neoplasm of prostate benign phyllodes neoplasm of the prostate benign phyllodes tumor of prostate benign phyllodes tumor of the prostate benign prostate phyllodes neoplasm benign prostate phyllodes tumor prostate phyllodes tumor, benign benign prostate phyllodes tumor MONDO:0002452 A benign smooth muscle neoplasm arising from the prostate. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. leiomyoma of prostate leiomyoma of prostate gland leiomyoma of the prostate prostate gland leiomyoma prostate leiomyoma prostatic leiomyoma prostate leiomyoma MONDO:0002453 Pathological processes involving the vestibulocochlear nerve; brainstem; or central nervous system. When hearing loss is due to retrocochlear pathology, it is called retrocochlear hearing loss. retrocochlear disease MONDO:0002455 A carcinoma that arises from the squamous epithelium of the exocervix. carcinoma of ectocervix carcinoma of exocervix carcinoma of the exocervix ectocervix carcinoma exocervical cancer exocervical carcinoma exocervix carcinoma exocervical carcinoma MONDO:0002457 Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects. Franceschetti syndrome Franceschetti-Klein syndrome Treacher-Collins syndrome mandibulofacial dysostosis without limb anomalies MFD1 TCOF TCS Treacher Collins syndrome Treacher-Collins syndrome MONDO:0002459 A disease that has its basis in the disruption of type IV hypersensitivity. DTH delayed hypersensitivity reaction delayed-type hypersensitivity delayed-type hypersensitivity response disorder of type IV hypersensitivity type 4 hypersensitivity reaction type IV hypersensitivity type IV hypersensitivity reaction hypersensitivity reaction type IV disease immunoproliferative disease We make this equivalent with the UMLS concept for the reaction type IV hypersensitivity disease MONDO:0002460 A cancer that involves the lacrimal apparatus. cancer of lacrimal apparatus lacrimal apparatus cancer lacrimal system neoplasm lacrimal system neoplasms lacrimal system tumor malignant lacrimal apparatus neoplasm malignant neoplasm of lacrimal apparatus neoplasm of lacrimal system neoplasm of the lacrimal system tumor of lacrimal system tumor of the lacrimal system lacrimal system cancer MONDO:0002461 Inflammation of the glomeruli characterized by deposits at the intraglomerular mesangium, resulting in thickening of the glomerular basement membrane, activation of complement, and impaired kidney function secondary to damaged glomeruli. membranoproliferative glomerulonephritis (disease) chronic glomerulonephritis, lobular lobular glomerulonephritis membranoproliferative glomerulonephritis membranoproliferative glomerulonephritis (disease) membranoproliferative glomerulonephritis MONDO:0002462 A renal disorder characterized by damage in the glomeruli. It may be acute or chronic, focal or diffuse, and it may lead to renal failure. Causes include autoimmune disorders, infections, diabetes, and malignancies. glomerulonephritis (disease) glomerular nephritis glomerulonephritis glomerulonephritis (disease) nephritis of renal glomerulus renal glomerulus nephritis bright's disease glomerulonephritis MONDO:0002463 A carcinoma that arises from epithelial cells of the lacrimal gland. carcinoma of lacrimal gland carcinoma of the lacrimal gland lacrimal gland carcinoma lacrimal gland carcinoma MONDO:0002464 A malignant neoplasm involving the lacrimal gland. tumor of the lacrimal gland cancer of lacrimal gland lacrimal gland cancer malignant lacrimal gland neoplasm malignant lacrimal gland tumor malignant neoplasm of lacrimal gland malignant neoplasm of the lacrimal gland malignant tumor of lacrimal gland malignant tumor of the lacrimal gland malignant tumour of lacrimal gland lacrimal gland cancer MONDO:0002465 Inflammation of the bronchioles characterized by swelling of the bronchioles and mucus accumulation. It is usually caused by the respiratory syncytial virus and affects children. Signs and symptoms include coughing, wheezing, and shortness of breath. bronchiolitis (disease) bronchiolitis bronchiolitis (disease) wheezy bronchitis RSV bronchiolitis viral bronchiolitis bronchiolitis MONDO:0002466 A carcinoma that arises from epithelial cells of the eye carcinoma of eye carcinoma of eyeball of camera-type eye carcinoma of the eye eye carcinoma eyeball of camera-type eye carcinoma ocular carcinoma eye carcinoma MONDO:0002467 A non-neoplastic or neoplastic disorder affecting the inner ear. Causes are inner ear infections, head injuries, and neoplasms (e.g., acoustic schwannoma). Symptoms include dizziness, imbalance, nausea, and vision problems. disease of internal ear disease or disorder of internal ear disorder of internal ear inner Ear disorder internal Ear disorder internal ear disease internal ear disease or disorder labyrinthine disease vestibular disorder inner ear disorder MONDO:0002468 hyperimmunoglobulin syndrome hyperimmunoglobulin syndrome MONDO:0002469 A carcinoma arising in a pre-existing pleomorphic adenoma in the lacrimal gland. carcinoma Ex pleomorphic adenoma of the lacrimal gland carcinoma ex pleomorphic adenoma of lacrimal gland carcinoma ex pleomorphic adenoma of the lacrimal gland lacrimal gland carcinoma ex pleomorphic adenoma lacrimal gland malignant mixed neoplasm lacrimal gland malignant mixed tumor malignant mixed neoplasm of lacrimal gland malignant mixed neoplasm of the lacrimal gland malignant mixed tumor of lacrimal gland malignant mixed tumor of the lacrimal gland mixed lacrimal gland cancer lacrimal gland carcinoma ex pleomorphic adenoma MONDO:0002470 A trichothiodystrophy that is photosensitive, and caused by defects in the NER pathway trichothiodystrophy trichothiodystrophy with congenital ichthyosis IBIDS syndrome Tay syndrome sulfur-deficient brittle hair syndrome Ichtyosis, brittle hair, intellectual impairment, decreased fertility, and short stature trichothiodystrophy with congenital ichtyosis photosensitive trichothiodystrophy MONDO:0002471 Inflammation or irritation of a synovial bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin. inflammation of synovial bursa synovial bursa inflammation Bursitides Capsulitides Capsulitides, adhesive Capsulitides, shoulder adhesive adhesive Capsulitides adhesive Capsulitides, shoulder adhesive capsulitis adhesive capsulitis of the shoulder adhesive capsulitis, shoulder capsulitis capsulitis, adhesive capsulitis, shoulder adhesive frozen shoulder frozen shoulders shoulder adhesive Capsulitides shoulder adhesive capsulitis shoulder, frozen shoulders, frozen bursitis MONDO:0002472 A carcinoma arising in a pre-existing pleomorphic adenoma. It most often occurs in the parotid gland and less often in the submandibular gland and minor salivary gland. Patients usually present with a history of a long-standing mass which recently had undergone rapid growth. The prognosis depends on the invasiveness of the malignant component. Patients with non-invasive or minimally invasive tumors usually have a good prognosis following surgical resection. Invasive tumors are usually aggressive and are associated with recurrences and metastases. carcinoma ex pleomorphic adenoma carcinoma ex pleomorphic adenoma (morphologic abnormality) carcinoma in pleomorphic adenoma carcinoma ex pleomorphic adenoma MONDO:0002473 A congenital or acquired kidney disorder characterized by the presence of renal cysts. cystic renal disease kidney cyst renal cyst cystic kidney disease MONDO:0002474 A hereditary disorder characterized by excessive oxalate production, leading to hyperoxaluria. hyperoxaluria, primary primary hyperoxaluria primary hyperoxaluria MONDO:0002475 A carcinoma that arises from glandular epithelial cells of the lacrimal gland adenocarcinoma of lacrimal gland adenocarcinoma of the lacrimal gland lacrimal gland adenocarcinoma lacrimal gland adenocarcinoma MONDO:0002476 Absence of urine output. suppression of urinary secretion anuria MONDO:0002477 A neoplasm with neuroendocrine differentiation that arises from the prostate gland. This category includes carcinoid tumors and small cell carcinomas. neuroendocrine neoplasm of prostate neuroendocrine neoplasm of prostate gland neuroendocrine neoplasm of the prostate neuroendocrine tumor of the prostate prostate gland NET prostate gland neuroendocrine neoplasm prostate gland neuroendocrine tumor prostate gland neuroendocrine tumor, well differentiated, low or intermediate grade prostate neuroendocrine neoplasm prostate neuroendocrine carcinoma prostate neuroendocrine neoplasm MONDO:0002478 A biphasic neoplasm that arises from the ovary or the testis. It is characterized by the presence of neoplastic germ cells and neoplastic sex cord-stromal cells. It includes the gonadoblastoma and mixed germ cell-sex cord stromal tumor, unclassifiable. mixed germ cell-Sex cord neoplasm mixed germ cell-Sex cord tumor mixed germ cell-Sex cord-stromal neoplasm mixed germ cell-Sex cord-stromal tumor mixed germ cell-sex cord-stromal tumor (morphologic abnormality) mixed germ cell-sex cord-stromal tumor MONDO:0002479 A sex cord-gonadal stromal tumor consists of leydig cells; sertoli cells; and fibroblasts in varying proportions and degree of differentiation. Most such tumors produce androgens in the Leydig cells, formerly known as androblastoma or arrhenoblastoma. Androblastomas occur in the testis or the ovary causing precocious masculinization in the males, and defeminization, or virilization (virilism) in the females. In some cases, the Sertoli cells produce estrogens. Sertoli-Leydig cell tumor MONDO:0002480 A benign, borderline, or malignant epithelial tumor of the female reproductive system characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells. endometrioid neoplasm endometrioid neoplasm of female reproductive system endometrioid neoplasm of the female reproductive system endometrioid tumor endometrioid tumor (morphologic abnormality) endometrioid tumor of female reproductive system endometrioid tumor of the female reproductive system female reproductive endometrioid neoplasm female reproductive endometrioid tumor female reproductive endometrioid cancer endometrioid tumor MONDO:0002481 An epithelial neoplasm with neuroendocrine differentiation that arises from the ovary. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma. neuroendocrine neoplasm of ovary neuroendocrine neoplasm of the ovary neuroendocrine tumor of ovary ovarian neuroendocrine neoplasm ovary NET ovary neuroendocrine neoplasm ovary neuroendocrine tumor ovary neuroendocrine tumor, well differentiated, low or intermediate grade ovarian neuroendocrine neoplasm MONDO:0002482 A benign or malignant neoplasm that arises in the area of the nipple. neoplasm of nipple neoplasm of the nipple nipple neoplasm nipple neoplasm (disease) nipple tumor tumor of nipple tumor of the nipple nipple neoplasm MONDO:0002483 A benign or malignant tumor that arises from the breast and originates from or is composed of myoepithelial cells. Representative examples include adenomyoepithelioma, myoepitheliosis, and malignant myoepithelioma. breast myoepithelial neoplasm breast myoepithelial tumor breast myoepithelial tumor MONDO:0002485 A neoplasm that arises from the breast and is composed of cells of neuroendocrine origin. Most cases are neuroendocrine carcinomas. Primary carcinoid tumors of the breast are very rare. breast NET breast endocrine neoplasm breast neuroendocrine neoplasm breast neuroendocrine tumor breast neuroendocrine tumor, well differentiated, low or intermediate grade neuroendocrine neoplasm of breast neuroendocrine neoplasm of the breast neuroendocrine tumor of the breast breast neuroendocrine neoplasm MONDO:0002486 A spectrum of non-invasive neoplastic lesions that arise from the terminal ductal lobular units of the breast. There is atypical small epithelial cell proliferation. Pagetoid involvement of the terminal ducts may or may not be present. In the minority of cases, there is a risk for subsequent development of invasive ductal or invasive lobular carcinoma. LIN LN lobular intraepithelial neoplasia lobular neoplasia lobular neoplasia MONDO:0002487 A usually benign neoplasm that arises from the breast. It presents as a single, firm, and painless mass. It is characterized by the presence of neoplastic cells with eosinophilic granular cytoplasm. breast granular cell tumor granular cell tumor of breast breast granular cell tumor MONDO:0002488 A benign or malignant epithelial neoplasm that arises anywhere in the ductal system of the breast. This category includes intraductal papilloma, intraductal papillary carcinoma, ductal hyperplasia with or without atypia, and ductal carcinoma in situ. intraductal breast neoplasm intraductal breast neoplasm MONDO:0002489 A phyllodes tumor of the breast characterized by infiltrative margins and a sarcomatous stromal component. The sarcomatous stroma usually displays features of fibrosarcoma. Liposarcomatous, osteosarcomatous, or rhabdomyosarcomatous elements may also be present. malignant phyllodes neoplasm phyllodes breast neoplasm phyllodes breast tumor phyllodes tumor, malignant (morphologic abnormality) breast phyllodes tumor, malignant malignant breast phyllodes neoplasm malignant breast phyllodes tumor malignant cystosarcoma phyllodes of breast malignant cystosarcoma phyllodes of the breast malignant mammary phyllodes neoplasm malignant mammary phyllodes tumor malignant phyllodes breast neoplasm malignant phyllodes neoplasm of breast malignant phyllodes neoplasm of the breast malignant phyllodes tumor (morphologic abnormality) malignant phyllodes tumor of breast malignant phyllodes tumor of the breast breast malignant phyllodes tumor malignant cystosarcoma phyllodes malignant cystosarcoma phyllodes (morphologic abnormality) malignant breast phyllodes tumor MONDO:0002490 A malignant mesenchymal neoplasm that arises from the breast. Representative examples include angiosarcoma, liposarcoma, leiomyosarcoma, rhabdomyosarcoma, and extraskeletal osteosarcoma. breast sarcoma sarcoma of breast sarcoma of the breast PBS breast sarcoma MONDO:0002491 The use of a drug for a reason other than which it was intended or in a manner or in quantities other than directed. substance abuse MONDO:0002492 Sudden and sustained deterioration of the kidney function characterized by decreased glomerular filtration rate, increased serum creatinine or oliguria. AKI ARF acute kidney injury acute renal failure kidney failure, acute acute kidney failure MONDO:0002493 An invasive adenocarcinoma of the prostate gland composed of secretory cells. It is the most common histologic type of prostate adenocarcinoma. Several morphologic variants exist, including atrophic, pseudohyperplastic, foamy gland, and oncocytic variants. acinar adenocarcinoma of prostate acinar adenocarcinoma of the prostate acinar prostate adenocarcinoma prostate acinar adenocarcinoma prostatic acinar adenocarcinoma prostatic acinar adenocarcinoma MONDO:0002494 A category of psychiatric disorders which include disorders related to the taking of a drug of abuse (including alcohol, prescribed medications and recreational drugs). substance induced mood disorders substance-related disorder substance-related disorder MONDO:0002495 An invasive adenocarcinoma of the colon characterized by the presence of malignant glandular epithelial cells which contain prominent intracytoplasmic mucin (signet ring cells). The signet ring cells constitute more than 50% of the malignant cells. colon signet Ring cell adenocarcinoma colonic signet Ring adenocarcinoma colonic signet Ring cell adenocarcinoma signet Ring cell adenocarcinoma of colon signet Ring cell adenocarcinoma of the colon signet Ring cell colon adenocarcinoma colon signet ring adenocarcinoma colon signet ring cell adenocarcinoma MONDO:0002496 An adenocarcinoma of the colon that has invaded into the submucosa. submucosal invasive colon adenocarcinoma submucosal invasive colon adenocarcinoma MONDO:0002501 A WHO grade IV malignant astrocytic tumor that arises from the brain, usually the cerebral hemispheres. It is characterized by the presence of poorly differentiated astrocytes, cellular polymorphism, nuclear atypia, and increased mitotic activity. The prognosis is poor. brain glioblastoma brain glioblastoma (disease) brain glioblastoma multiforme brain glioblastoma multiforme (disease) glioblastoma (disease) of brain glioblastoma multiforme of brain glioblastoma multiforme of the brain grade IV astrocytic neoplasm of brain grade IV astrocytic neoplasm of the brain grade IV astrocytic tumor of brain grade IV astrocytic tumor of the brain grade IV brain astrocytic neoplasm grade IV brain astrocytic tumor brain glioblastoma MONDO:0002503 An astrocytic tumor occurring during adulthood. Representative examples include diffuse astrocytoma, anaplastic astrocytoma, and glioblastoma. astrocytic tumor adult astrocytic neoplasm adult astrocytic tumor adult astrocytoma adult astrocytic tumour MONDO:0002505 An astrocytic tumor appearing before the age of twenty one without designation of benign or malignant nor designated location. astrocytic tumor astrocytic tumor of childhood astrocytic tumors, childhood childhood astrocytic neoplasm childhood astrocytic tumor childhood astrocytic tumour juvenile astrocytoma juvenile astrocytoma (morphologic abnormality) pediatric astrocytic neoplasm pediatric astrocytic tumor pediatric astrocytoma childhood astrocytic tumor MONDO:0002507 Excessive growth of the gingiva either by an increase in the size of the constituent cells (gingival hypertrophy) or by an increase in their number (gingival hyperplasia). (From Jablonski's Dictionary of Dentistry, 1992, p574) gingival enlargement gingival overgrowth MONDO:0002508 A disorder involving inflammation of the gums; may affect surrounding and supporting structures of the teeth. gingiva inflammation gingivitis inflammation of gingiva acute gingivitis chronic gingivitis gingivitis MONDO:0002509 Granulomatous inflammation of the testis. It is characterized by the formation of granulomas around the seminiferous tubules. History of trauma may be present. It is assumed to be a reactive process due to autoimmune phenomena. granulomatous orchitis non-specific granulomatous orchitis MONDO:0002511 stenosis of lacrimal sac MONDO:0002512 A morphologic variant of adenocarcinoma. It is characterized by the presence of a papillary growth pattern. Representative examples include thyroid gland papillary carcinoma, invasive papillary breast carcinoma, and ovarian serous surface papillary adenocarcinoma. adenocarcinoma, papillary, malignant papillary adenocarcinoma papillary adenocarcinoma (morphologic abnormality) papillary adenocarcinoma NOS (morphologic abnormality) infiltrating and papillary adenocarcinoma infiltrating papillary adenocarcinoma papillary adenocarcinoma MONDO:0002513 A non-metastasizing neoplasm that arises from the kidney. Representative examples include cystic nephroma, metanephric adenoma, oncocytoma, and urothelial papilloma of the renal pelvis. benign kidney neoplasm benign kidney tumor benign neoplasm of kidney benign neoplasm of the kidney benign renal neoplasm benign renal tumor benign tumor of kidney benign tumor of the kidney kidney benign neoplasm renal and ureteral tumor renal neoplasm, benign renal tumor, benign kidney benign neoplasm MONDO:0002514 A benign or malignant neoplasm that affects the liver parenchyma, bile ducts, and gallbladder. Representative examples of benign neoplasms include hepatocellular adenoma, bile duct adenoma, and gallbladder lipoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic and extrahepatic cholangiocarcinoma, and gallbladder carcinoma. hepatic and biliary neoplasms hepatic and biliary tumors hepatic, biliary, and gallbladder neoplasms hepato-biliary neoplasm hepato-biliary tumor hepatobiliary neoplasm hepatobiliary system neoplasm hepatobiliary system neoplasm (disease) hepatobiliary system tumor hepatobiliary tumor hepatobiliary tumors liver and biliary neoplasm liver and biliary system neoplasm neoplasm of hepatobiliary system tumor of hepatobiliary system hepatobiliary benign neoplasm hepatobiliary neoplasm MONDO:0002515 A non-neoplastic or neoplastic disorder that affects the liver, bile ducts, and gallbladder. Representative examples of non-neoplastic disorders include hepatitis, cirrhosis, cholangitis, and cholecystitis. Representative examples of neoplastic disorders include hepatocellular adenoma, hepatocellular carcinoma, and cholangiocarcinoma. disease of hepatobiliary system disease or disorder of hepatobiliary system disorder of hepatobiliary system hepatobiliary disorder hepatobiliary system disease hepatobiliary system disease or disorder liver and biliary disease liver and biliary disorder liver and biliary system disorder liver and biliary tract disease hepatobiliary disorder MONDO:0002516 A primary or metastatic malignant neoplasm involving any part of the digestive system. GI tumor cancer of digestive system digestive system cancer gastrointestinal system cancer gastrointestinal tract cancer malignant digestive system neoplasm malignant gastrointestinal neoplasm malignant gastrointestinal system neoplasm malignant neoplasm of digestive system digestive system cancer MONDO:0002517 tenosynovitis of foot and ankle MONDO:0002518 A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the gallbladder. Intraepithelial neoplasia is present. gall bladder papillary epithelial neoplasm gallbladder papillary neoplasm gallbladder papillomatosis intracystic papillary neoplasm gallbladder papillary neoplasm MONDO:0002519 A non-neoplastic or neoplastic disorder that affects the anal canal or anal margin. Representative examples of non-neoplastic disorders include hemorrhoids and anal ulcer. Representative examples of neoplastic disorders include carcinoma, lymphoma, and melanoma. anal disease anal disorder anus disease anus disease or disorder disease of anus disease or disorder of anus disorder of anal region disorder of anus Ulcer of anus anal fissure anal fissure and fistula anal ulcer fissure in ano nontraumatic tear of anus solitary anal ulcer anus disorder MONDO:0002520 A group of metabolic diseases due to deficiency of one of a number of liver enzymes in the biosynthetic pathway of heme. They are characterized by the accumulation and increased excretion of porphyrins or its precursors. Clinical features include neurological symptoms (porphyria, acute intermittent), cutaneous lesions due to photosensitivity (porphyria cutanea tarda), or both (hereditary coproporphyria). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues. ALAD deficiency Delta-aminolevulinate dehydratase deficiency hepatic porphyria liver porphyria porphobilinogen synthase deficiency porphyria of liver acute hepatic porphyria acute porphyria hepatic Porphyrias porphyria, hepatic hepatic porphyria MONDO:0002522 A tumor usually arising in the synovium of joints, bursa or tendon sheath. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. According to the growth pattern, it is classified as localized or diffuse. fibrous histiocytoma of tendon sheath giant cell neoplasm of Tenosynovium giant cell neoplasm of tendon sheath giant cell neoplasm of the Tenosynovium giant cell tumor of Tenosynovium giant cell tumor of tendon sheath giant cell tumor of the Tenosynovium tendon sheath giant cell neoplasm tendon sheath giant cell tumor tenosynovial giant cell neoplasm tenosynovial giant cell tumor tenosynovial giant cell tumor MONDO:0002523 The mucinoses are a diverse group of disorders which have in common the deposition of basophilic, finely granular and stringy material (mucin) in the connective tissues of the dermis (dermal mucinoses), in the pilosebaceous follicles (follicular mucinoses), or in the epidermis and tumors derived therefrom (epithelial mucinoses). mucinosis mucinosis affecting the skin mucinoses Editor note: consider splitting by location cutaneous mucinosis MONDO:0002525 An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production. disorder of lipid metabolism dyslipidemia lipid metabolism disorder fatty acid metabolism disorder inherited lipid metabolism disorder MONDO:0002526 unilateral segmental cavernous hemangioma unilateral segmental cavernous hemangioma of the skin dermal unilateral segmental cavernous angioma MONDO:0002527 A dome-shaped, rapidly growing skin lesion composed of well differentiated squamous cells. It represents a proliferation of the infundibular epithelium of the hair follicle and its morphologic distinction from a well differentiated carcinoma may be difficult or impossible. Keratoacanthomas affect males more frequently than females and the majority tend to regress spontaneously. It has been suggested that keratoacanthoma represents a distinct subtype of squamous cell carcinoma of the skin. Clinically and histologically, it may be confused with a de novo highly malignant squamous cell carcinoma (SCC). However, KA may be viewed as an abortive cancer that only rarely progresses into an aggressive SCC - PMID:8277007. keratoacanthoma MONDO:0002528 A benign or malignant soft tissue neoplasm arising exclusively from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath, localized giant cell tumor of tendon sheath, and malignant giant cell tumor of tendon sheath. neoplasm of synovial membrane of synovial joint neoplasm of synovium neoplasm of the synovium synovial membrane of synovial joint neoplasm synovial membrane of synovial joint neoplasm (disease) synovial membrane of synovial joint tumor synovial neoplasm synovial neoplasm (morphologic abnormality) synovial neoplasm NOS (morphologic abnormality) synovial tumor tumor of synovial membrane of synovial joint tumor of synovium tumor of the synovium synovium neoplasm MONDO:0002529 A carcinoma arising from the squamous cells of the epidermis. Skin squamous cell carcinoma is most commonly found on sun-exposed areas. The majority of the tumors are well-differentiated. cutaneous squamous cell carcinoma epidermoid carcinoma of skin epidermoid carcinoma of the skin epidermoid skin carcinoma skin squamous cell cancer skin squamous cell carcinoma squamous cell carcinoma - skin squamous cell carcinoma of skin squamous cell carcinoma of the skin squamous cell skin carcinoma zone of skin squamous cell carcinoma CSCC skin squamous cell carcinoma MONDO:0002531 A benign or malignant tumor involving the skin. Representative examples of benign skin neoplasms include the benign melanocytic skin nevus, acanthoma, sebaceous adenoma, sweat gland adenoma, lipoma, hemangioma, fibroma, and benign fibrous histiocytoma. Representative examples of malignant skin neoplasms include basal cell carcinoma, squamous cell carcinoma, melanoma, and Kaposi sarcoma. neoplasm of skin neoplasm of skin by site neoplasm of the skin neoplasm of zone of skin skin neoplasm skin neoplasms skin tumor tumor of skin tumor of the skin tumor of zone of skin zone of skin neoplasm zone of skin neoplasm (disease) zone of skin tumor skin skin benign neoplasm skin neoplasm MONDO:0002532 A neoplasm that is composed of squamous epithelial cells. Squamous cell carcinoma is a representative example. epidermoid cell neoplasm epidermoid cell tumor squamous cell neoplasm squamous cell tumor squamous cell tumor (qualifier value) squamous cell neoplasm MONDO:0002533 An adenoma characterized by the presence of papillary epithelial patterns. adenoma, papillary, benign papillary adenoma papillary adenoma NOS (morphologic abnormality) glandular papilloma papillary adenoma MONDO:0002534 A benign epithelial neoplasm that arises from the fallopian tube. It is characterized by the presence of fibrovascular stalks lined by serous epithelial cells. fallopian tube papilloma fallopian tube serous papilloma fallopian tube papilloma MONDO:0002535 A benign epithelial neoplasm characterized by a papillary growth pattern, lack of significant cytologic atypia, and a wart-like appearance. verrucous papilloma MONDO:0002536 A benign papillary neoplastic growth on the skin composed of epithelial cells and a fibrous stalk. It usually develops in the eyelid, axilla, neck, upper chest, and groin. basosquamous tumor, benign cutaneous papilloma papilloma of skin papilloma of the skin skin papilloma zone of skin papilloma skin papilloma MONDO:0002537 An endophytic benign papillary epithelial neoplasm that results from the invagination and proliferation of epithelial cells in the underlying stroma. Representative examples are the inverted urothelial papilloma that arises from the urinary tract and inverted Schneiderian papilloma that arises from the nasal cavity or paranasal sinuses. inverted papilloma inverted papilloma, squamous cell inverted papilloma MONDO:0002540 An oligodendroglioma that arises from the central nervous system and occurs during childhood. oligodendroglioma oligodendroglioma of childhood pediatric oligodendroglioma childhood oligodendroglioma MONDO:0002541 A oligodendroglioma that involves the spinal cord. oligodendroglioma of spinal cord spinal cord oligodendroglioma well differentiated spinal cord oligodendroglial tumor well differentiated spinal cord oligodendroglioma spinal cord oligodendroglioma MONDO:0002542 A neoplasm that arises from glial cells in the spinal cord. Representative examples include astrocytoma, oligodendroglioma, and ependymoma. glial neoplasm spinal cord glial tumor of spinal cord glioma of spinal cord malignant glioma of spinal cord spinal cord glial neoplasm spinal cord glial tumor spinal cord glioma spinal cord malignant glioma spinal cord glioma MONDO:0002543 An oligodendroglioma occurring during adulthood. oligodendroglioma adult oligodendroglioma grade II adult oligodendroglial tumor oligodendroglioma of adults adult brain oligodendroglioma adult oligodendroglioma MONDO:0002544 A oligodendroglioma that involves the brain. brain oligodendroglioma oligodendroglioma of brain oligodendroglioma of the brain brain oligodendroglioma MONDO:0002545 A disease involving the spinal cord. disease of spinal cord disease of the spinal cord disease or disorder of spinal cord disorder of spinal cord spinal cord disease spinal cord disease or disorder spinal cord disorder myelopathy spinal cord disorder MONDO:0002546 A benign, usually encapsulated slow growing tumor composed of Schwann cells. It affects peripheral and cranial nerves. It recurs infrequently and only rare cases associated with malignant transformation have been reported. benign neurilemmoma benign schwannoma neurilemmoma neurinoma peripheral fibroblastoma psammomatous schwannoma schwannoma schwannoma (WHO grade I) schwannoma, benign SCHW neurolemmoma schwannoma https://rarediseases.info.nih.gov/diseases/4767/schwannoma MONDO:0002547 A benign or malignant neoplasm arising from the perineural cells in the sheaths surrounding the nerves. Representative examples include neurofibroma, schwannoma, and malignant peripheral nerve sheath tumor. neoplasm of nerve sheath neoplasm of the nerve sheath nerve sheath neoplasm nerve sheath tumor nerve sheath tumour peripheral nerve sheath neoplasm tumor of nerve sheath nerve sheath neoplasm MONDO:0002548 A morphologic variant of schwannoma characterized by hypercellularity, Antoni A pattern, and the absence of well-formed Verocay bodies. cellular neurilemmoma cellular neurinoma cellular schwannoma CSCHW cellular schwannoma MONDO:0002549 A schwannoma that involves the hypoglossal nerve. hypoglossal nerve neurilemmoma hypoglossal nerve schwannoma hypoglossal neurilemmoma hypoglossal schwannoma neurilemmoma of hypoglossal nerve neurilemmoma of the hypoglossal nerve neurilemmoma of the twelfth cranial nerve neurilemmoma of twelfth cranial nerve schwannoma of hypoglossal nerve schwannoma of the hypoglossal nerve schwannoma of the twelfth cranial nerve schwannoma of twelfth cranial nerve twelfth cranial nerve neurilemmoma twelfth cranial nerve schwannoma schwannoma of twelfth cranial nerve MONDO:0002550 A neoplasm involving a hypoglossal nerve. XIIth cranial nerve neoplasms XIIth cranial nerve tumors hypoglossal nerve neoplasm hypoglossal nerve neoplasm (disease) hypoglossal nerve neoplasms hypoglossal nerve tumor hypoglossal nerve tumors neoplasm of hypoglossal nerve neoplasm of the hypoglossal nerve neoplasm of the twelfth cranial nerve neoplasm of twelfth cranial nerve tumor of hypoglossal nerve tumor of the hypoglossal nerve tumor of the twelfth cranial nerve tumor of twelfth cranial nerve twelfth cranial nerve neoplasm twelfth cranial nerve neoplasms twelfth cranial nerve tumor twelfth cranial nerve tumors hypoglossal nerve neoplasm MONDO:0002551 cerebellar Pontine angle neurinoma cerebellopontine angle neurinoma cerebellopontine angle schwannoma c-P angle neurinoma MONDO:0002552 vascular myelopathies vascular myelopathy MONDO:0002553 A neoplasm that affects the cerebellopontine angle. Representative examples include vestibular schwannoma and meningioma. C-P angle neoplasm C-P angle tumor cerebellar Pontine angle neoplasm cerebellar Pontine angle tumor cerebellopontine angle neoplasm cerebellopontine angle neoplasm (disease) cerebellopontine angle tumor neoplasm of C-P angle neoplasm of cerebellar Pontine angle neoplasm of cerebellopontine angle neoplasm of the C-P angle neoplasm of the cerebellar Pontine angle neoplasm of the cerebellopontine angle tumor of C-P angle tumor of cerebellar Pontine angle tumor of cerebellopontine angle tumor of the C-P angle tumor of the cerebellar Pontine angle tumor of the cerebellopontine angle cerebellopontine angle tumor MONDO:0002554 A benign tumor derived from schwann cells of the peripheral sympathetic nervous system, including the sympathetic plexus. sympathetic schwannoma sympathetic neurilemmoma MONDO:0002555 A schwannoma that involves the trigeminal nerve. fifth cranial nerve neurilemmoma fifth cranial nerve schwannoma neurilemmoma of fifth cranial nerve neurilemmoma of the fifth cranial nerve neurilemmoma of the trigeminal nerve neurilemmoma of trigeminal nerve schwannoma of fifth cranial nerve schwannoma of the fifth cranial nerve schwannoma of the trigeminal nerve schwannoma of trigeminal nerve trigeminal nerve schwannoma trigeminal neurilemmoma trigeminal schwannoma trigeminal schwannoma MONDO:0002556 The rarest histopathologic subtype of Schwannoma. The reported cases have been located in the gastrointestinal submucosa or subcutaneous tissue. Morphologically it is characterized by the presence of a microcyst-rich network of spindle cells with minimal amount of cytoplasm and Antoni A tissue. microcystic/reticular schwannoma microcystic/reticular schwannoma MONDO:0002558 A rare circumscribed, non-encapsulated and grossly pigmented nerve sheath tumor. It is composed of cells with the immunophenotypic and electron microscopic features of Schwann cells which contain melanosomes and are positive for melanoma markers. It usually involves spinal nerve roots but may occur in other locations. It may be associated with PRKAR1A gene mutation and Carney complex. Malignant behavior has been reported in a significant number of patients. melanocytic neurilemmoma melanocytic schwannoma melanotic neurinoma melanotic schwannoma melanotic schwannoma (morphologic abnormality) pigmented neurilemmoma pigmented schwannoma MSCHW melanotic neurilemmoma MONDO:0002559 A schwannoma characterized by a plexiform or multinodular growth pattern. It usually arises from the skin or subcutaneous tissues in the extremities, trunk, and head and neck. plexiform neurilemmoma plexiform neurinoma plexiform schwannoma plexiform schwannoma (morphologic abnormality) plexiform schwannoma MONDO:0002561 A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins. disorder of lysosomal enzyme disorder of lysosomal enzymes inborn lysosomal enzyme disorder lysosomal disease lysosomal disorder lysosomal storage disorder lysosomal storage metabolism disorder lysosome disease lysosome disorder phospholipidosis lysosomal storage disease MONDO:0002562 A broad group of disorders that affect the myelin sheaths that cover the neurons. Myelin sheathes cover neuronal axons in the central and peripheral nervous system and function to increase travelling impulse speeds. Disruption of this sheath impairs neuronal transmission and can result in disorders such as multiple sclerosis and Guillain-Barre syndrome, among others. demyelinating disorder demyelinating disease MONDO:0002563 A somatostatin-producing neuroendocrine tumor that arises from the jejunum. It is characterized by the presence of tubulo-glandular structures. Delta cell tumor of jejunum Delta cell tumor of the jejunum Somatosatinoma of jejunum Somatosatinoma of the jejunum jejunal delta cell somatostatin producing tumor jejunal somatostatin producing tumor jejunal somatostatin-producing NET jejunal somatostatin-producing neuroendocrine tumor jejunal somatostatinoma MONDO:0002564 A benign or malignant neoplasm that affects the wall of the jejunum. Representative examples include adenoma, carcinoma, and lymphoma. jejunal tumor jejunum neoplasm jejunum neoplasm (disease) jejunum tumor neoplasm of jejunum neoplasm of the jejunum tumor of jejunum tumor of the jejunum jejunal neoplasm MONDO:0002565 An inflammatory process affecting the spinal cord. Causes include viral infections, autoimmune disorders, vascular disorders, and toxic agents. Symptoms include weakness, paresthesia, sensory loss, pain, and incontinence. inflammation of spinal cord spinal cord inflammation myelitis https://rarediseases.info.nih.gov/diseases/7130/myelitis MONDO:0002567 A non-neoplastic or neoplastic disorder that affects the trachea. Representative examples of non-neoplastic disorders include congenital malformations and infection. Representative examples of neoplastic disorders include carcinoma and lymphoma. disease of trachea disease or disorder of trachea disorder of trachea trachea disease trachea disease or disorder tracheal disorder tracheal disorder MONDO:0002568 Narrowing of the lumen of the trachea. stenosis of trachea tracheal stenosis MONDO:0002569 Abnormal distention of the stomach due to accumulation of gastric contents that may reach 10 to 15 liters. Gastric dilatation may be the result of gastric outlet obstruction; ileus; gastroparesis; or denervation. stomach dilatation gastric dilatation MONDO:0002570 A syndrome related to increased atmospheric pressure and characterized by tremors, nausea, dizziness, decreased motor and mental performance, and seizures. This condition may occur in those who dive deeply (c. 1000 ft) usually while breathing a mixture of oxygen and helium. The condition is associated with a neuroexcitatory effect of helium. high pressure neurological syndrome MONDO:0002571 A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis. CNS lymphoma PCNSL central nervous system lymphoma lymphoma of central nervous system malignant lymphomas of CNS malignant lymphomas of the CNS microglioma primary CNS lymphoma primary brain lymphoma primary central nervous system lymphoma primary lymphoma, CNS primary central nervous system lymphoma MONDO:0002572 Inflammation of the lungs due to the inhalation of solid or liquid material. chemical pneumonitis aspiration pneumonia aspiration pneumonitis MONDO:0002574 A malignant mesenchymal neoplasm of the prostate. It is characterized by the presence of skeletal muscle exhibiting embryonic features. embryonal rhabdomyosarcoma (disease) of prostate gland embryonal rhabdomyosarcoma of prostate embryonal rhabdomyosarcoma of the prostate prostate embryonal rhabdomyosarcoma prostate gland embryonal rhabdomyosarcoma (disease) prostate embryonal rhabdomyosarcoma MONDO:0002576 An embryonal rhabdomyosarcoma that arises from the extrahepatic bile ducts. embryonal extrahepatic bile duct rhabdomyosarcoma embryonal rhabdomyosarcoma (disease) of extrahepatic bile duct embryonal rhabdomyosarcoma of extrahepatic bile duct embryonal rhabdomyosarcoma of the extrahepatic bile duct extrahepatic bile duct embryonal rhabdomyosarcoma extrahepatic bile duct embryonal rhabdomyosarcoma (disease) embryonal extrahepatic bile duct rhabdomyosarcoma MONDO:0002577 A malignant mesenchymal tumor with skeletal muscle differentiation, arising from the extrahepatic bile ducts. bile duct rhabdomyosarcoma (disease) extrahepatic bile duct rhabdomyosarcoma extrahepatic bile duct rhabdomyosarcoma (disease) rhabdomyosarcoma (disease) of extrahepatic bile duct rhabdomyosarcoma of extrahepatic bile duct rhabdomyosarcoma of the bile duct rhabdomyosarcoma of the extrahepatic bile duct bile duct rhabdomyosarcoma extrahepatic bile duct rhabdomyosarcoma MONDO:0002578 A morphologic variant of embryonal rhabdomyosarcoma arising from organs with a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma. botryoid sarcoma botryoid sarcoma (morphologic abnormality) botryoid-type embryonal rhabdomyosarcoma sarcoma botryoides botryoid rhabdomyosarcoma MONDO:0002579 A malignant mesenchymal neoplasm that arises from the orbit. It is characterized by the presence of skeletal muscle tissue exhibiting embryonic features. embryonal rhabdomyosarcoma of orbit embryonal rhabdomyosarcoma of the orbit orbit embryonal rhabdomyosarcoma MONDO:0002580 A malignant mesenchymal neoplasm with skeletal muscle differentiation that arises from the orbit. orbital region rhabdomyosarcoma orbital region rhabdomyosarcoma (disease) rhabdomyosarcoma (disease) of orbital region rhabdomyosarcoma of orbit rhabdomyosarcoma of the orbit orbit rhabdomyosarcoma MONDO:0002581 An uncommon variant of rhabdomyosarcoma characterized by the presence of whorls of spindle cells forming a storiform pattern. In children it usually arises in the paratesticular region. In adults it usually arises from the deep soft tissues in the head and neck. spindle cell rhabdomyosarcoma (morphologic abnormality) SCRMS spindle cell rhabdomyosarcoma MONDO:0002582 A leukemia that is in between acute and chronic leukemia and is characterized by a moderate duration or severity. subacute leukemia MONDO:0002583 A benign neoplasm of the ovary characterized by the presence of cystic structures lined by mucinous columnar epithelial cells. benign mucinous cystadenoma of ovary benign mucinous cystadenoma of the ovary benign ovarian mucinous cystadenoma mucinous cystadenoma of ovary mucinous cystadenoma of the ovary ovarian mucinous cystadenoma ovary mucinous cystadenoma mucinous ovarian cystadenoma MONDO:0002585 Breast fibrocystic change characterized by the presence of epithelial cell hyperplasia. Epithelial atypia may be present or absent. proliferative fibrocystic change benign proliferative breast disease breast fibrocystic change, proliferative type fibrocystic change, proliferative type with atypia fibrocystic disease, proliferative type with atypia proliferating lesion of breast without atypia proliferating lesion of the breast without atypia proliferative breast disease proliferative breast lesion proliferative type fibrocystic change of breast proliferative type fibrocystic change of the breast breast fibrocystic change, proliferative type MONDO:0002586 A primary or metastatic malignant neoplasm involving the thymus. This category includes malignant thymomas, thymic lymphomas, primary thymic carcinomas, and metastatic carcinomas from other anatomic sites. thymic neoplasm thymic tumor Thymus cancer cancer of Thymus cancer of the Thymus cancer of thymus malignant Thymus neoplasm malignant Thymus tumor malignant neoplasm of Thymus malignant neoplasm of the Thymus malignant neoplasm of thymus malignant thymus neoplasm malignant tumor of Thymus malignant tumor of the Thymus thymus cancer thymus cancer MONDO:0002587 A thymoma that is confined within the capsule and may display benign or malignant morphologic characteristics. encapsulated thymoma encapsulated thymoma MONDO:0002588 A thymic epithelial neoplasm characterized by the presence of spindle and/or oval neoplastic epithelial cells. Lymphocytic infiltration is minimal or absent. It may be associated with myasthenia gravis or pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. Approximately 20% of the cases occur as stage II or stage III tumors. Type A thymoma generally behaves as a benign tumor and the overall survival is reported to be 100% at 5 and 10 years. medullary thymoma primary thymic epithelial neoplasm type A primary thymic epithelial tumor type A spindle cell thymoma thymoma type A thymoma, medullary thymoma type A MONDO:0002590 combined thymoma MONDO:0002592 A malignant thymoma that extends beyond the capsule and infiltrates the surrounding tissues. infiltrating thymoma invasive malignant thymoma malignant thymoma, invasive thymoma malignant invasive invasive malignant thymoma MONDO:0002594 An infection that is caused by an Orthopoxvirus, which is transmitted by primates or rodents, and which is characterized by a prodromal syndrome of fever, chills, headache, myalgia, and lymphedema; initial symptoms are followed by a generalized papular rash that typically progresses from vesiculation through crusting over the course of two weeks. Monkeypox virus infection infections, Monkeypox virus monkeypox https://rarediseases.info.nih.gov/diseases/10722/monkeypox MONDO:0002595 The cutaneous and occasional systemic reactions associated with vaccination using smallpox (variola) vaccine. vaccinia MONDO:0002597 A bone tumor arising from the remnants of the fetal notochord. This category includes the chordoma and benign notochordal cell tumor. cancer of notochord malignant neoplasm of notochord malignant notochord neoplasm neoplasm of notochord notochord cancer notochord neoplasm notochord tumor notochordal neoplasm notochordal tumor tumor of notochord notochordal cancer notochordal tumor MONDO:0002598 A malignant germ cell tumor arising in the central nervous system. It is characterized by the presence of primitive, large malignant germ cells and lymphocytes. germinoma (disease) germinoma germinoma (disease) germinoma MONDO:0002599 A germ cell tumor characterized by the presence of an embryonal carcinoma component and a teratoma component. mixed embryonal carcinoma and teratoma teratocarcinoma teratocarcinoma (morphologic abnormality) teratocarcinoma MONDO:0002601 A non-seminomatous germ cell tumor characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). It occurs in the testis, ovary, and extragonadal sites including central nervous system, mediastinum, lung, and stomach. According to the level of differentiation of the tissues which comprise the tumor, teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal-type tissues. Testicular teratomas in children follow a benign clinical course. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor. teratoma teratoma MONDO:0002602 A disease involving the central nervous system. CNS disorder central nervous disease central nervous system disease central nervous system disease or disorder central nervous system disorder disease of central nervous system disease of the central nervous system disease or disorder of central nervous system disorder of central nervous system central nervous system disorder MONDO:0002603 A neoplasm with perivascular epithelioid cell differentiation often associated with tuberous sclerosis. It is characterized by a mixture of epithelioid cells, smooth muscle, vessels, and mature adipose tissue. The kidney is the most common site of involvement. Other sites of involvement include the liver, lung, lymph nodes, and retroperitoneum. The vast majority of cases follow a benign clinical course. However, cases of metastatic angiomyolipomas with sarcomatoid features have been described. angiomyolipoma (morphologic abnormality) angiomyolipoma MONDO:0002604 A benign or malignant mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels. Pericytic neoplasm Pericytic tumor perivascular neoplasm perivascular tumor malignant perivascular cancer pericytic neoplasm MONDO:0002605 An angiomyolipoma arising from the liver. liver PEComa liver angiomyolipoma hepatic angiomyolipoma MONDO:0002606 An angiomyolipoma composed exclusively or predominantly by polygonal epithelioid cells with eosinophilic cytoplasm, often associated with cytologic atypia. epithelioid type angiomyolipoma MONDO:0002610 A small blood vessel hemorrhage into the skin and/or mucous membranes. Newer lesions appear reddish in color. Older lesions are usually a darker purple color and eventually become a brownish-yellow color. purpura (disease) purpura purpura (disease) purpuric disorder purpura MONDO:0002612 A localization-related (focal) form of epilepsy characterized by seizures which arise in the frontal lobe. A variety of clinical syndromes exist depending on the exact location of the seizure focus. Frontal lobe seizures may be idiopathic (cryptogenic) or caused by an identifiable disease process such as traumatic injuries, neoplasms, or other macroscopic or microscopic lesions of the frontal lobes (symptomatic frontal lobe seizures). (From Adams et al., Principles of Neurology, 6th ed, pp318-9) epilepsy of frontal lobe frontal lobe epilepsy frontal lobe epilepsy MONDO:0002613 A disorder characterized by an enduring pattern of excessively intense and superficial emotionality, attention seeking behavior, seductive appearance and speech, self dramatization and/or theatrical behavior. histrionic personality disorder (disease) histrionic personality disorder histrionic personality disorder (disease) histrionic personality disorder MONDO:0002614 Inflammation of the bone. bone inflammatory disease inflammatory disorder of bone osteitis bone inflammation disease MONDO:0002615 A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the skin; tendons; joints of knees and elbows. Xanthomatosis is associated with disturbance of lipid metabolism and formation of foam cells. xanthomatosis (disease) xanthelasmatosis xanthomatosis xanthomatosis (disease) xanthomatosis MONDO:0002616 A benign, intermediate, or malignant neoplasm that arises from the mesenchyma-derived cells of the soft tissue or bone. Representative examples include lipoma, leiomyoma, leiomyosarcoma and osteosarcoma. benign miscellaneous mesenchymal tumor mesenchymal cell neoplasm mesenchymal cell tumor mesenchymal neoplasm mesenchymal tumor mesenchymal cell neoplasm MONDO:0002617 A high-grade malignant vascular neoplasm that arises from the bone. It is characterized by the presence of neoplastic cells with endothelial differentiation. angiosarcoma (disease) of bone tissue bone Hemangioendothelial sarcoma bone angioendothelial sarcoma bone angiosarcoma bone hemangiosarcoma bone tissue angiosarcoma (disease) osseous angioendothelial sarcoma osseous angiosarcoma osseous hemangiosarcoma bone angiosarcoma MONDO:0002618 A rare, high-grade pleomorphic malignant neoplasm arising from the bone. It usually presents with pain which may or may not be associated with swelling in the affected area. It is characterized by the presence of spindle-shaped cells, polygonal or epithelioid cells, multinucleated giant cells, and inflammatory cells. The neoplastic cells exhibit nuclear pleomorphism and high mitotic activity. It metastasizes frequently, most often in the lungs. malignant bone fibrous histiocytoma malignant fibrous histiocytoma of bone malignant fibrous histiocytoma of the bone undifferentiated high grade pleomorphic sarcoma undifferentiated high grade pleomorphic sarcoma of bone undifferentiated high-grade pleomorphic sarcoma undifferentiated high grade pleomorphic sarcoma of bone MONDO:0002619 A usually aggressive malignant neoplasm arising from the bone. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. bone fibrosarcoma bone tissue fibrosarcoma (disease) fibrosarcoma of bone fibrosarcoma of the bone bone fibrosarcoma MONDO:0002620 A non-disseminated osteosarcoma. localized osteogenic sarcoma localized osteosarcoma osteosarcoma, localized localized osteosarcoma MONDO:0002621 An osteosarcoma arising from the soft tissue. extraosseous osteosarcoma extraskeletal osteogenic sarcoma extraskeletal osteosarcoma osteosarcoma, extraskeletal, malignant soft tissue osteosarcoma extraosseous osteosarcoma MONDO:0002622 A primary bone osteosarcoma affecting multiple bone sites. multicentric osteosarcoma multifocal osteosarcoma multifocal osteogenic sarcoma MONDO:0002623 An osteosarcoma occurring in childhood. osteosarcoma childhood osteogenic sarcoma childhood osteosarcoma childhood osteosarcoma (disease) osteosarcoma (disease) of childhood pediatric osteosarcoma pediatric osteosarcoma (disease) pediatric osteosarcoma MONDO:0002624 A rare aggressive malignant smooth muscle neoplasm, arising from the bone. It is characterized by a proliferation of neoplastic spindle cells. bone leiomyosarcoma bone tissue leiomyosarcoma leiomyosarcoma of bone leiomyosarcoma of bone tissue bone leiomyosarcoma MONDO:0002625 A small round cell bone tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It often affects the diaphysis or metaphyseal-diaphyseal portion of long bones. Clinical findings include pain and a mass in the involved area. fever, anemia, leukocytosis, and an increased sedimentation rate are often seen. X-ray examination reveals osteolytic lesions. The prognosis depends on the stage, anatomic location, and size of the tumor. Ewing sarcoma of bone Ewing's sarcoma of bone Ewing's sarcoma, osseous Ewing's sarcoma/bone peripheral primitive neuroectodermal tumor bone Ewing sarcoma bone Ewing's sarcoma bone localized Ewing sarcoma bone localized Ewing's sarcoma bone tissue Ewing sarcoma localized skeletal Ewing's sarcoma osseous Ewing's sarcoma osseous Ewing's tumor skeletal Ewing's sarcoma skeletal Ewing's tumor Ewing sarcoma of bone MONDO:0002626 A neoplasm involving a accessory XI nerve spinal component. XIth cranial nerve neoplasms XIth cranial nerve tumors accessory XI nerve spinal component neoplasm accessory XI nerve spinal component neoplasm (disease) accessory XI nerve spinal component tumor accessory nerve neoplasm eleventh cranial nerve neoplasm eleventh cranial nerve neoplasms eleventh cranial nerve tumor eleventh cranial nerve tumors neoplasm of accessory XI nerve spinal component neoplasm of accessory nerve neoplasm of eleventh cranial nerve neoplasm of spinal accessory nerve neoplasm of the eleventh cranial nerve neoplasm of the spinal accessory nerve spinal accessory nerve neoplasm spinal accessory nerve neoplasms spinal accessory nerve tumor spinal accessory nerve tumors tumor of accessory XI nerve spinal component tumor of eleventh cranial nerve tumor of spinal accessory nerve tumor of the eleventh cranial nerve tumor of the spinal accessory nerve spinal accessory nerve neoplasm MONDO:0002627 An osteosarcoma characterised by the presence of atypical cartilage of variable cellularity. It may or may not be associated with the presence of myxoid areas or focal bone formation. chondroblastic osteogenic sarcoma chondroblastic osteosarcoma chondroblastic osteosarcoma (morphologic abnormality) chondrosarcomatous osteogenic sarcoma CHOS chondroblastic osteosarcoma MONDO:0002628 A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. bone surface (peripheral) osteosarcoma peripheral osteosarcoma surface osteosarcoma peripheral osteosarcoma MONDO:0002629 A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5537 bone osteosarcoma osteosarcoma of bone osteosarcoma, somatic osteosarcoma, somatic mutation primary osteosarcoma of bone bone osteosarcoma MONDO:0002630 An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of small cells and osteoid production. The prognosis is usually unfavorable. round cell osteosarcoma small cell osteosarcoma SCOS small cell osteogenic sarcoma MONDO:0002631 A high grade malignant bone-forming mesenchymal neoplasm producing osteoid. The tumor arises from the medullary portion of the bone. It affects the long bones and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis. central osteosarcoma conventional central osteosarcoma conventional osteosarcoma intracortical osteogenic sarcoma intracortical osteosarcoma intracortical osteosarcoma (morphologic abnormality) medullary osteosarcoma conventional osteosarcoma MONDO:0002632 A bone osteosarcoma that has metastasized to skeletal or extraskeletal sites. metachronous osteosarcoma metachronous osteosarcoma of the bone metachronous osteosarcoma of the bone MONDO:0002633 Abnormal growth of the cells that comprise the cranial nerves. cranial nerve neoplasm cranial nerve neoplasm (disease) cranial nerve neoplasms cranial nerve tumor neoplasm of cranial nerve neoplasm of the cranial nerve tumor of cranial nerve tumor of the cranial nerve cranial nerve neoplasm MONDO:0002634 A very rare malignant adipose tissue neoplasm that arises from the bone. bone liposarcoma bone tissue liposarcoma liposarcoma of bone liposarcoma of bone tissue liposarcoma of the bone liposarcoma of bone MONDO:0002635 An inflammatory process of the gingival tissues and/or periodontal membrane of the teeth, resulting in an abnormally deep gingival sulcus, possibly producing periodontal pockets and loss of alveolar bone support. disease of periodontium disease of supporting structures of teeth disease or disorder of periodontium disorder of periodontium periodontal disease periodontal disorder periodontium disease periodontium disease or disorder periodontium disorder periodontal disorder MONDO:0002636 A disease involving the accessory XI nerve. accessory XI nerve disease accessory XI nerve disease or disorder accessory nerve disorder disease of accessory XI nerve disease or disorder of accessory XI nerve disorder of 11th nerve disorder of accessory XI nerve disorder of accessory [11th] nerve disorder of accessory nerve disorder of the 11th nerve eleventh nerve disorder accessory nerve disorder MONDO:0002637 A morphologic finding indicating tissue infiltration by non-neoplastic or neoplastic histiocytes. chronic histiocytosis X hand Schuller Christian disease histiocytic infiltrate histiocytic syndrome histiocytic and dendritic cell neoplasms histiocytosis MONDO:0002638 A neoplasm involving a glossopharyngeal nerve. IXth cranial nerve neoplasms IXth cranial nerve tumors Ninth cranial nerve neoplasm Ninth cranial nerve neoplasms Ninth cranial nerve tumor Ninth cranial nerve tumors glossopharyngeal nerve neoplasm glossopharyngeal nerve neoplasm (disease) glossopharyngeal nerve neoplasms glossopharyngeal nerve tumor glossopharyngeal nerve tumors neoplasm of Ninth cranial nerve neoplasm of glossopharyngeal nerve neoplasm of the Ninth cranial nerve neoplasm of the glossopharyngeal nerve tumor of Ninth cranial nerve tumor of glossopharyngeal nerve tumor of the Ninth cranial nerve tumor of the glossopharyngeal nerve glossopharyngeal nerve neoplasm MONDO:0002639 A disease involving the glossopharyngeal nerve. IX nerve disorder disease of glossopharyngeal nerve disease or disorder of glossopharyngeal nerve disorder of glossopharyngeal nerve glossopharyngeal nerve disease glossopharyngeal nerve disease or disorder glossopharyngeal nerve disorder ninth nerve disorder glossopharyngeal nerve disorder MONDO:0002640 Benign and malignant neoplasms which arise from or metastasize to the optic or second cranial nerve which extends from the optic disc of the eye and joins the optic chiasm. Clinical features may include visual loss, proptosis, and local pain. The majority of optic nerve tumors or optic gliomas. cranial nerve II neoplasm cranial nerve II neoplasm (disease) cranial nerve II neoplasms cranial nerve II tumor neoplasm of cranial nerve II neoplasm of optic nerve neoplasm of second cranial nerve neoplasm of the optic nerve neoplasm of the second cranial nerve neoplasms, optic nerve neoplasms, second cranial nerve optic nerve neoplasm optic nerve neoplasms optic nerve tumor second cranial nerve neoplasm second cranial nerve neoplasms second cranial nerve tumor tumor of cranial nerve II tumor of optic nerve tumor of second cranial nerve tumor of the optic nerve tumor of the second cranial nerve tumour of optic nerve optic nerve neoplasm MONDO:0002641 A subclavian aneurysm is weakness or bulging in the wall of the subclavian artery, which is located below the collarbone. If the aneurysm ruptures, it can cause life-threatening, uncontrolled bleeding. Blood clots caused by the aneurysm can potentially lead to stroke or loss of fingers, the hand or, in rare cases, the entire arm. Editor note: consider moving to HPO subclavian artery aneurysm MONDO:0002642 A neoplasm involving a trochlear nerve. IVth cranial nerve neoplasms IVth cranial nerve tumors fourth cranial nerve neoplasm fourth cranial nerve neoplasms fourth cranial nerve tumor fourth cranial nerve tumors neoplasm of fourth cranial nerve neoplasm of the fourth cranial nerve neoplasm of the trochlear nerve neoplasm of trochlear nerve trochlear nerve neoplasm (disease) trochlear nerve neoplasms trochlear nerve tumor trochlear nerve tumors tumor of fourth cranial nerve tumor of the fourth cranial nerve tumor of the trochlear nerve tumor of trochlear nerve trochlear nerve neoplasm MONDO:0002643 Pathological processes of the vestibular labyrinth which contains part of the balancing apparatus. Patients with vestibular diseases show instability and are at risk of frequent falls. disease of vestibular labyrinth disease of vestibular system disease or disorder of vestibular labyrinth disorder of vestibular labyrinth vertigo, vestibular disorder vestibular labyrinth disease vestibular labyrinth disease or disorder vestibular system disease disorder of vestibular system vestibular disorder MONDO:0002644 idiopathic granulomatous myositis granulomatous myositis idiopathic granulomatous myositis MONDO:0002645 Inflammation of the cerebrum. cerebral hemisphere inflammation inflammation of cerebral hemisphere cerebritis MONDO:0002646 Acute inflammation of the larynx caused by viruses, including rhinovirus, influenza virus, parainfluenza virus, and adenovirus. Viruses caused laryngitis Viruses laryngitis viral laryngitis MONDO:0002647 An acute or chronic, bacterial or viral inflammatory process affecting the larynx. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness. inflammation of larynx laryngeal Inflammation laryngeal inflammation larynx inflammation laryngitis MONDO:0002648 A malignant neoplasm in which there is infiltration of the skin overlying the breast by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It is almost always associated with an intraductal or invasive ductal carcinoma of the breast. The clinical features include focal skin reddening, and eczema. Retraction of the nipple may sometimes occur. Paget cell neoplasm Paget disease of the breast Paget's disease of breast Paget's disease of the breast breast Paget disease mammary Paget disease mammary Paget's disease mammary Paget disease MONDO:0002649 A mammary Paget's disease that involves the scrotum. Paget disease of the scrotum Paget's disease of scrotum Paget's disease of the scrotum scrotal Paget's disease scrotum Paget disease scrotum Paget's disease scrotum mammary Paget's disease scrotum Paget disease MONDO:0002650 A carcinoma that arises from epithelial cells of the scrotum. cancer of scrotum cancer of the scrotum scrotal cancer carcinoma of scrotum carcinoma of the scrotum scrotum carcinoma scrotal carcinoma MONDO:0002651 A slowly spreading, erythematous eczematoid plaque in the anal region. Histologically, the basal part or whole thickness of the squamous epithelium is infiltrated by large cells with abundant pale cytoplasm and large nuclei. Half of the cases are associated with an internal malignancy, most often a colorectal adenocarcinoma. The other half of the cases, have a high local recurrence rate and they may become invasive (WHO). Paget disease of the anus Paget's disease of anus Paget's disease of the anus anal Paget disease anal Paget's disease anus Paget disease anus mammary Paget's disease anal Paget disease MONDO:0002652 An adenocarcinoma arising in the anal canal epithelium, including the mucosal surface, the anal glands, and the lining of fistulous tracts. The prognosis is related to the stage at diagnosis. adenocarcinoma of anus adenocarcinoma of the anus anal adenocarcinoma anus adenocarcinoma anus adenocarcinoma MONDO:0002653 A premalignant condition morphologically characterised by the presence of the characteristic Paget cells in the intraepithelial tissue of the penis. It presents as a smooth raised reddish area that may or may not be painful. -- 2003 Paget disease of the penis Paget's disease of penis Paget's disease of the penis penis Paget disease penis mammary Paget's disease penile adenocarcinoma penis Paget's disease Paget disease of the penis MONDO:0002654 A non-neoplastic or neoplastic disorder that affects the uterine corpus or the cervix. Representative examples of non-neoplastic disorders include endometritis and cervicitis. Representative examples of neoplastic disorders include endometrial carcinoma, carcinosarcoma, and cervical carcinoma. disease of uterus disease or disorder of uterus disorder of uterus uterine disease uterine disorder uterus disease uterus disease or disorder uterine disorder MONDO:0002655 A skin carcinoma that is characterized by infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli. cutaneous Paget disease cutaneous Paget's disease extramammary Paget's disease zone of skin Paget disease cutaneous Paget disease MONDO:0002656 A carcinoma that arises from epithelial cells of the zone of skin carcinoma of skin carcinoma of the skin carcinoma of zone of skin non-melanoma cancer of skin non-melanoma cancer of the skin non-melanoma skin cancer nonmelanoma skin cancer skin cancer, non-melanoma skin carcinoma zone of skin carcinoma skin carcinoma MONDO:0002657 A disease involving the breast. breast disease breast disease or disorder breast diseases breast disorder disease of breast disease or disorder of breast disorder of breast breast disorder MONDO:0002658 A malignant neoplasm involving the iris. tumor of the iris cancer of iris iris cancer malignant iris neoplasm malignant iris tumor malignant neoplasm of iris malignant neoplasm of the iris malignant tumor of iris malignant tumor of the iris iris cancer MONDO:0002659 A primary or metastatic malignant neoplasm that affects the choroid, ciliary body, or iris. uveal tumor cancer of uvea malignant neoplasm of the uvea malignant neoplasm of uvea malignant tumor of the uvea malignant tumor of uvea malignant uvea neoplasm malignant uvea tumor malignant uveal neoplasm malignant uveal tumor uvea cancer uveal cancer MONDO:0002660 An eyelid disease that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over the lid margins. blepharochalasis (disease) blepharochalasis blepharochalasis (disease) blepharochalasis MONDO:0002661 A non-neoplastic or neoplastic disorder that affects the uvea. Representative examples include uveitis, chorioretinitis, and uveal melanoma. disease of uvea disease or disorder of uvea disorder of uvea uvea disease uvea disease or disorder uveal disease uveal disorder uveal tract disease disorder of uveal tract uveal diseases uveal disorder MONDO:0002664 An adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of signet ring malignant epithelial cells. bile duct signet Ring cell carcinoma bile duct signet ring cell carcinoma extrahepatic bile duct signet Ring cell carcinoma signet Ring cell bile duct carcinoma signet Ring cell carcinoma of bile duct signet Ring cell carcinoma of the bile duct extrahepatic bile duct signet ring cell carcinoma MONDO:0002665 A carcinoma that arises from glandular epithelial cells of the extrahepatic bile duct adenocarcinoma of extrahepatic bile duct adenocarcinoma of the extrahepatic bile duct extrahepatic bile duct adenocarcinoma extrahepatic bile duct adenocarcinoma MONDO:0002666 A rare pancreatic ductal adenocarcinoma with poor prognosis. It is characterized by the presence of malignant signet ring cells infiltrating the pancreatic parenchyma in an individual cell pattern. pancreas signet ring cell carcinoma pancreatic signet Ring cell carcinoma pancreatic signet ring cell carcinoma signet Ring cell carcinoma of pancreas signet Ring cell carcinoma of the pancreas pancreatic signet ring cell adenocarcinoma MONDO:0002667 An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of signet ring malignant epithelial cells. gall bladder signet ring cell carcinoma gallbladder signet Ring cell carcinoma signet Ring cell carcinoma of gallbladder signet Ring cell carcinoma of the gallbladder gallbladder signet ring cell adenocarcinoma MONDO:0002669 An adenocarcinoma arising from the ampulla of Vater. Morphologically, it is characterized by the presence of mucin-containing signet-ring cells. ampulla of Vater signet Ring cell carcinoma ampullary signet Ring cell carcinoma ampullary signet ring cell carcinoma ampullary signet ring cell adenocarcinoma MONDO:0002670 A carcinoma that arises from glandular epithelial cells of the hepatopancreatic ampulla adenocarcinoma of ampulla of Vater ampulla of Vater adenocarcinoma ampullary adenocarcinoma hepatopancreatic ampulla adenocarcinoma invasive adenocarcinoma of the ampullary region adenocarcinoma of ampulla of vater ampulla of vater adenocarcinoma MONDO:0002671 An invasive breast adenocarcinoma characterized by the presence of malignant epithelial cells with signet ring appearance. SRC breast carcinoma SRC carcinoma of breast SRC carcinoma of the breast breast signet ring cell carcinoma mammary signet Ring cell carcinoma primary SRC breast carcinoma primary SRC carcinoma of breast primary SRC carcinoma of the breast primary mammary signet Ring cell carcinoma primary signet Ring cell breast carcinoma primary signet Ring cell carcinoma of breast primary signet Ring cell carcinoma of the breast signet Ring cell breast carcinoma signet Ring cell carcinoma of breast signet Ring cell carcinoma of the breast breast carcinoma with signet ring breast signet ring cell adenocarcinoma signet ring cell carcinoma of breast signet ring cell breast carcinoma MONDO:0002672 A morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of signet ring malignant cells. acinar prostate adenocarcinoma, signet Ring variant prostate gland signet ring cell carcinoma prostate signet Ring cell carcinoma prostate signet ring cell carcinoma signet Ring cell carcinoma of prostate signet Ring cell carcinoma of the prostate prostate signet ring cell adenocarcinoma acinar prostate adenocarcinoma, signet ring variant MONDO:0002674 stricture or kinking of ureter MONDO:0002675 A malignant tumor that arises from small cutaneous nerves, is locally aggressive, and has a potential for metastasis. Characteristic histopathologic features include proliferating atypical spindle cells with slender wavy and pointed nuclei, hypocellular areas, and areas featuring organized whorls of fibroblastic proliferation. The most common primary sites are the extremities, retroperitoneum, and trunk. These tumors tend to present in childhood, often in association with neurofibromatosis 1. (From DeVita et al., Cancer: Principles & Practice of Oncology, 5th ed, p1662; Mayo Clin Proc 1990 Feb;65(2):164-72) neurosarcoma neurosarcoma [obs] neurofibrosarcoma MONDO:0002676 A malignant mesenchymal neoplasm composed of fibroblasts. It is characterized by collagen production and a herringbone architectural pattern. It is more commonly seen in middle-aged and older adults. It usually affects the deep soft tissues of extremities, trunk, head and neck. Adult fibrosarcomas may recur and metastasize to the lungs and bones. fibrosarcoma adult fibrosarcoma adult fibrosarcoma (disease) fibrosarcoma (disease) of adults adult fibrosarcoma MONDO:0002677 A malignant mesenchymal neoplasm composed of fibroblasts, and characterized by collagen production and usually a herringbone architectural pattern. classic fibrosarcoma classical fibrosarcoma conventional fibrosarcoma conventional fibrosarcoma MONDO:0002678 A malignant neoplasm arising from the deep soft tissues in children. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. fibrosarcoma childhood fibrosarcoma pediatric fibrosarcoma pediatric fibrosarcoma MONDO:0002679 An ischemic condition of the brain, producing a persistent focal neurological deficit in the area of distribution of the cerebral arteries. CVA - cerebral infarction brain infarction of telencephalon cerebral infarct cerebral infarction cerebral ischemia cerebral, infarction infarction, cerebral telencephalon brain infarction cerebral infarction MONDO:0002681 A malignant neoplasm involving the choroid plexus https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/16 choroid plexus neoplasm tumor of choroid plexus cancer of choroid plexus choroid plexus cancer malignant choroid plexus neoplasm malignant choroid plexus neoplasms malignant choroid plexus tumor malignant choroid plexus tumors malignant neoplasm of choroid plexus malignant neoplasm of the choroid plexus malignant tumor of choroid plexus malignant tumor of the choroid plexus choroid plexus cancer MONDO:0002682 A neoplasm that involves a brain ventricle. It may be a primary neoplasm arising from a brain ventricle, a metastasis from a distant anatomic site, or an extension of an invasive neoplasm from an adjacent brain structure. brain neoplasms, intraventricular brain ventricle cancer cancer of brain ventricle cerebral ventricle neoplasm intraventricular brain neoplasm intraventricular brain neoplasms intraventricular brain tumor intraventricular neoplasm of brain intraventricular neoplasm of the brain intraventricular neoplasms intraventricular tumor of brain intraventricular tumor of the brain malignant brain ventricle neoplasm malignant neoplasm of brain ventricle cerebral ventricle cancer https://rarediseases.info.nih.gov/diseases/6025/cerebral-ventricle-cancer MONDO:0002683 A choroid plexus neoplasm that occurs in an adult. choroid plexus neoplasm adult choroid plexus neoplasm adult choroid plexus tumor choroid plexus neoplasm of adults neoplasm of adult choroid plexus neoplasm of the adult choroid plexus tumor of adult choroid plexus tumor of the adult choroid plexus adult choroid plexus cancer adult choroid plexus neoplasm MONDO:0002684 A choroid plexus papilloma characterized by increased mitotic activity. atypical CPP atypical choroid plexus papilloma atypical choroid plexus papilloma (morphologic abnormality) atypical papilloma of choroid plexus ACPP atypical choroid plexus papilloma MONDO:0002685 A choroid plexus carcinoma that occurs during childhood. childhood choroid plexus neoplasm childhood choroid plexus carcinoma choroid plexus carcinoma of childhood pediatric choroid plexus carcinoma childhood choroid plexus cancer childhood choroid plexus carcinoma MONDO:0002687 Superior mesenteric artery syndrome (SMAS) is a digestive condition that occurs when the duodenum (the first part of the small intestine) is compressed between two arteries (the aorta and the superior mesenteric artery). This compression causes partial or complete blockage of the duodenum. Symptoms vary based on severity, but can be severely debilitating. Symptoms may include abdominal pain, fullness, nausea, vomiting, and/or weight loss. SMAS typically is due toloss of the mesenteric fat pad (fatty tissue that surrounds the superior mesenteric artery). The most common cause is significant weight loss caused by medical disorders, psychological disorders, or surgery. In younger patients, it most commonly occurs after corrective spinal surgery for scoliosis. Delays in diagnosis may result in significant complications. Depending on the cause and severity, treatment options may include addressing the underlying cause, dietary changes (small feedings or a liquid diet), and/or surgery. Symptoms may not resolve completely after treatment. superior mesenteric artery syndrome superior mesenteric artery syndromic disease syndromic disease of superior mesenteric artery Arteriomesenteric duodenal compression syndrome Cast syndrome Wilkie syndrome vascular compression of the duodenum superior mesenteric artery syndrome https://rarediseases.info.nih.gov/diseases/7712/superior-mesenteric-artery-syndrome MONDO:0002688 Blockage of the normal flow of stomach contents through the duodenum. duodenal obstruction MONDO:0002691 An epithelial or non-epithelial malignant neoplasm that arises from the liver. Representative examples include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, lymphoma, and sarcoma. Ca liver - primary Resectable malignant neoplasm of liver ca liver - primary cancer of liver hepatic cancer hepatic neoplasm liver cancer malignant hepato-biliary neoplasm malignant liver neoplasm malignant neoplasm of liver malignant neoplasm of liver, not specified as primary or secondary malignant neoplasm of liver, primary malignant tumor of liver non-resectable primary hepatic malignant neoplasm primary liver cancer primary malignant liver neoplasm primary malignant neoplasm of liver resectable malignant neoplasm of the liver primary cancer of liver primary tumor of the liver liver cancer MONDO:0002692 Formation or presence of a blood clot (thrombus) in the cranial sinuses, large endothelium-lined venous channels situated within the skull. Intracranial sinuses, also called cranial venous sinuses, include the superior sagittal, cavernous, lateral, petrous sinuses, and many others. Cranial sinus thrombosis can lead to severe headache; seizure; and other neurological defects. intracranial sinus thrombosis MONDO:0002693 Formation or presence of a blood clot (thrombus) in the lateral sinuses. This condition is often associated with ear infections (otitis media or mastoiditis) without antibiotic treatment. In developed nations, lateral sinus thrombosis can result from craniocerebral trauma; brain neoplasms; neurosurgical procedures; thrombophilia; and other conditions. Clinical features include headache; vertigo; and increased intracranial pressure. thrombosis of lateral venous sinus thrombosis transverse sinus lateral sinus thrombosis MONDO:0002694 Formation or presence of a blood clot (thrombus) in the cavernous sinus of the brain. Infections of the paranasal sinuses and adjacent structures, craniocerebral trauma, and thrombophilia are associated conditions. Clinical manifestations include dysfunction of cranial nerves iii, iv, V, and vi, marked periorbital swelling, chemosis, fever, and visual loss. (From Adams et al., Principles of Neurology, 6th ed, p711) thrombosis of cavernous venous sinus cavernous sinus thrombosis MONDO:0002695 Formation or presence of a blood clot (thrombus) in the superior sagittal sinus or the inferior sagittal sinus. Sagittal sinus thrombosis can result from infections, hematological disorders, craniocerebral trauma; and neurosurgical procedures. Clinical features are primarily related to the increased intracranial pressure causing headache; nausea; and vomiting. Severe cases can evolve to seizures or coma. thrombosis of superior longitudinal sinus thrombosis of superior sagittal sinus sagittal sinus thrombosis MONDO:0002696 A sex cord-stromal tumor of the testis or the ovary. It is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent. It may be associated with Peutz-Jeghers syndrome. In males, the presenting symptom is a slow growing testicular mass. Most cases follow a benign clinical course. In females it may present with estrogenic or androgenic manifestations. The vast majority of cases have a benign clinical course. Sertoli cell tumor tubular androblastoma tubular androblastoma NOS (morphologic abnormality) Sertoli cell tumor MONDO:0002697 A neoplasm that arises from the ovary and is composed of tissues that resemble dysgerminoma or seminoma and are admixed with sex cord tissues. It is found in children or young adults and usually is associated with secondary sex organs abnormalities. The majority of patients present as phenotypic females with virilization. The minority of patients present as phenotypic males with feminization. It typically affects both gonads. If a malignant germ cell component is present, it may metastasize to other anatomic sites. ovarian gonadoblastoma (disease) GBY gonadoblastoma gonadoblastoma of ovary ovarian gonadoblastoma ovarian gonadoblastoma (disease) ovary gonadoblastoma ovarian gonadoblastoma MONDO:0002698 A testicular mixed germ cell-sex cord-stromal tumor. It is usually associated with mixed gonadal dysgenesis and ambiguous genitalia. It is characterized by the presence of nests of large neoplastic germ cells and immature cells that resemble Sertoli cells. testicular gonadoblastoma (disease) gonadoblastoma of testis testicular gonadoblastoma testicular gonadoblastoma (disease) testis gonadoblastoma testicular gonadoblastoma MONDO:0002701 An invasive cystic adenocarcinoma arising from the ovary. It is characterized by the presence of malignant glandular epithelial cells which contain intracytoplasmic mucin. The malignant cells invade the ovarian stroma and the cystic spaces contain mucoid material. In a minority of cases both ovaries are involved by the tumor. The prognosis for stage I tumors is excellent. Patients with metastases usually have a poor prognosis. mucinous cystadenocarcinoma of ovary mucinous cystadenocarcinoma of the ovary ovarian mucinous cystadenocarcinoma ovary mucinous cystadenocarcinoma ovarian mucinous cystadenocarcinoma MONDO:0002702 An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma. cystadenocarcinoma of ovary cystadenocarcinoma of the ovary ovarian cystadenocarcinoma ovary cystadenocarcinoma ovarian cystadenocarcinoma MONDO:0002703 An adenocarcinoma arising from the appendix, characterized by the presence of mucinous stroma formation and cystic structures. appendiceal colloid cystadenocarcinoma appendiceal colloidal cystadenocarcinoma appendiceal mucinous cystadenocarcinoma appendix colloid cystadenocarcinoma appendix colloidal cystadenocarcinoma appendix mucinous cystadenocarcinoma colloid cystadenocarcinoma of appendix colloid cystadenocarcinoma of the appendix colloidal cystadenocarcinoma of appendix colloidal cystadenocarcinoma of the appendix mucinous cystadenocarcinoma of appendix mucinous cystadenocarcinoma of the appendix vermiform appendix mucinous cystadenocarcinoma appendix mucinous cystadenocarcinoma MONDO:0002705 An invasive breast adenocarcinoma characterized by the presence of tall columnar neoplastic cells that contain intracytoplasmic mucin. Grossly, cystic changes are identified. breast mucinous cystadenocarcinoma breast mucinous cystadenocarcinoma MONDO:0002706 Endometriosis that affects the cervix. Most patients are asymptomatic. Some patients may present with recurrent minimal uterine bleeding. cervical endometriosis endometriosis (disease) of uterine cervix endometriosis of cervix uterine cervix endometriosis (disease) cervix endometriosis MONDO:0002707 An invasive adenocarcinoma of the breast characterized by the presence of islands of small and uniform cells, surrounded by large amounts of mucin. Pure mucinous breast carcinomas generally have a favorable prognosis. breast mucinous carcinoma colloid breast carcinoma colloid carcinoma of breast colloid carcinoma of the breast infiltrating colloid breast carcinoma infiltrating mucinous breast carcinoma invasive colloid breast carcinoma invasive mucinous breast carcinoma mucinous breast cancer mucinous breast carcinoma mucinous carcinoma of breast mucinous carcinoma of the breast breast invasive mixed mucinous carcinoma breast mucinous carcinoma MONDO:0002708 Inflammation of the retina. inflammation of retina retina inflammation retinitis MONDO:0002710 An uncommon lipoma characterized by prominent vascularity that invades the surrounding deep tissue. angiolipoma, infiltrating angiolipoma, infiltrating (morphologic abnormality) infiltrating angiolipoma infiltrating angiolipoma MONDO:0002712 An uncommon lipoma characterized by prominent vascularity that arises in the epidural space of the spinal canal. angiolipoma of epidural space angiolipoma of epidural spinal canal angiolipoma of extradural spinal canal angiolipoma of the epidural spinal canal angiolipoma of the extradural spinal canal epidural space angiolipoma extradural spinal canal angiolipoma epidural spinal canal angiolipoma MONDO:0002713 A primary or metastatic neoplasm that involves the space between the vertebral periosteum and dura mater that surrounds the spinal cord. epidural neoplasm epidural space neoplasm epidural space tumor epidural spinal canal neoplasm epidural spinal canal tumor epidural spinal canal tumors epidural spinal neoplasms epidural spinal tumors epidural tumor extradural neoplasm extradural spinal canal neoplasm extradural spinal canal neoplasms extradural spinal canal tumor extradural spinal neoplasms extradural spinal tumors extradural tumor neoplasm of epidural space neoplasm of epidural spinal canal neoplasm of extradural spinal canal neoplasm of the epidural spinal canal neoplasm of the extradural spinal canal tumor of epidural space tumor of epidural spinal canal tumor of extradural spinal canal tumor of the epidural spinal canal tumor of the extradural spinal canal epidural spinal canal neoplasm MONDO:0002714 A malignant neoplasm involving the central nervous system CNS neoplasm central nervous system tumor CNS cancer CNS malignant neoplasms CNS neoplasms, malignant cancer of CNS cancer of central nervous system cancer of the CNS cancer of the central nervous system central nervous system cancer central nervous system neoplasms, malignant central nervous system tumors malignant CNS neoplasm malignant CNS neoplasms malignant CNS tumor malignant central nervous system neoplasm malignant central nervous system tumor malignant neoplasm of CNS malignant neoplasm of central nervous system malignant neoplasm of the CNS malignant neoplasm of the central nervous system malignant tumor of CNS malignant tumor of central nervous system malignant tumor of the CNS malignant tumor of the central nervous system central nervous system cancer MONDO:0002715 Primary or metastatic malignant neoplasm involving the uterine corpus and/or the cervix. neoplasm of uterus tumour of uterus uterine tumor uterus neoplasm CA - cancer of uterus cancer of the uterus cancer of uterus malignant neoplasm of the uterus malignant neoplasm of uterus malignant tumor of the uterus malignant tumor of uterus malignant uterine neoplasm malignant uterine tumor malignant uterus neoplasm uterine cancer uterus cancer uterine cancer MONDO:0002716 A benign or malignant neoplasm affecting the spinal cord during childhood. childhood spinal cord neoplasm pediatric spinal cord neoplasm spinal cord neoplasm of childhood childhood spinal cord tumor MONDO:0002717 intramedullary spinal cord teratoma intramedullary spinal teratoma intramedullary teratoma of spinal cord intramedullary teratoma of the spinal cord spinal cord intramedullary teratoma MONDO:0002718 A mature or immature teratoma that affects the central nervous system. CNS teratoma central nervous system teratoma teratoma of CNS teratoma of central nervous system teratoma of the CNS teratoma of the central nervous system central nervous system teratoma MONDO:0002719 A neoplasm (disease) that involves the conus medullaris. conus medullaris neoplasm conus medullaris neoplasm (disease) conus medullaris tumor neoplasm of conus medullaris neoplasm of the conus medullaris tumor of conus medullaris tumor of the conus medullaris conus medullaris neoplasm MONDO:0002720 A benign or malignant neoplasm that occurs in sella turcica. Representative examples include craniopharyngioma and pituitary gland adenoma. neoplasm of sella turcica neoplasm of the sella turcica sella turcica neoplasm sella turcica tumor sellar neoplasm sellar tumor tumor of sella turcica tumor of the sella turcica selt sella turcica neoplasm MONDO:0002721 Ischemic or hemorrhagic necrosis of the pituitary gland. pituitary gland Necrosis pituitary necrosis necrosis of pituitary MONDO:0002722 Benign and malignant neoplasms which arise from or metastasize to the olfactory or first cranial nerve. Clinical features may include facial pain and impairments of taste or smell. cranial nerve I neoplasms first cranial nerve neoplasm first cranial nerve neoplasms first cranial nerve tumor neoplasm of first cranial nerve neoplasm of olfactory nerve neoplasm of the first cranial nerve neoplasm of the olfactory nerve neoplasms, cranial nerve I neoplasms, olfactory nerve olfactory nerve neoplasm olfactory nerve neoplasm (disease) olfactory nerve neoplasms olfactory nerve tumor olfactory neural neoplasm olfactory neural tumor tumor of first cranial nerve tumor of olfactory nerve tumor of the first cranial nerve tumor of the olfactory nerve olfactory nerve neoplasm MONDO:0002724 A heterogeneous group of disorders characterized by the abnormal growth and accumulation of mast cells in one or more organ systems. Recent data suggest that most variants of mast cell neoplasms are clonal disorders. (WHO, 2001) Mast cell proliferative disease Mast cell tumor mast cell neoplasm mast cell tumor neoplasm of Mast cells neoplasm of the Mast cells tumor of Mast cells tumor of the Mast cells mast cell neoplasm MONDO:0002726 A variant of cutaneous mastocytosis which occurs as a single lesion usually in infants. It is found mostly in the wrist and trunk and there is no atypical cytomorphology. skin solitary mastocytoma solitary mastocytoma of skin solitary mastocytoma of the skin cutaneous solitary mastocytoma MONDO:0002727 A disease involving the olfactory nerve. disease of olfactory nerve disease or disorder of olfactory nerve disorder of 1st nerve disorder of olfactory [1st] nerve disorder of olfactory nerve disorder of the 1st nerve olfactory nerve disease olfactory nerve disease or disorder olfactory nerve disorder olfactory nerve disorder MONDO:0002728 An aggressive malignant embryonal neoplasm usually occurring during childhood. It is characterized by the presence of large cells with abundant cytoplasm, large eccentric nucleus, and a prominent nucleolus and it is associated with abnormalities of chromosome 22. It can arise from the central nervous system, kidney, and the soft tissues. The prognosis is poor. malignant rhabdoid tumor malignant rhabdoid tumour rhabdoid sarcoma rhabdoid tumor rhabdoid cancer rhabdoid tumor MONDO:0002729 A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor. MRTK kidney rhabdoid tumor malignant rhabdoid tumor of kidney malignant rhabdoid tumor of the kidney renal rhabdoid neoplasm renal rhabdoid tumor rhabdoid neoplasm of kidney rhabdoid neoplasm of the kidney rhabdoid tumor of the kidney rhabdoid tumor of the kidney (RTK) rhabdoid tumour of kidney rhabdoid tumour of the kidney kidney rhabdoid cancer rhabdoid tumor of the kidney MONDO:0002730 A kidney neoplasm that occurs during childhood. kidney neoplasm childhood kidney neoplasm childhood kidney tumor childhood renal neoplasm childhood renal tumor kidney neoplasm of childhood pediatric kidney neoplasm pediatric kidney tumor pediatric renal neoplasm pediatric renal tumor childhood kidney neoplasm MONDO:0002731 A cancer that involves the cerebral hemisphere. tumor of cerebrum cancer of cerebral hemisphere cancer of telencephalon cerebral cancer malignant cerebral hemisphere neoplasm malignant cerebral hemispheric neoplasm malignant cerebral hemispheric tumor malignant cerebral neoplasm malignant cerebral tumor malignant neoplasm of cerebral hemisphere malignant neoplasm of cerebral hemispheres malignant neoplasm of cerebrum malignant neoplasm of telencephalon malignant neoplasm of the cerebral hemispheres malignant neoplasm of the cerebrum malignant telencephalon neoplasm malignant tumor of cerebral hemispheres malignant tumor of cerebrum malignant tumor of the cerebral hemispheres malignant tumor of the cerebrum telencephalon cancer cerebrum cancer cerebral hemisphere cancer MONDO:0002732 A non-metastasizing neoplasm that arises from the lung parenchyma or the bronchi. Representative examples include lung adenoma, lung hamartoma, and endobronchial lipoma. tumor of the lung benign lung neoplasm benign lung tumor benign neoplasm of lung benign neoplasm of the lung benign tumor of lung benign tumor of the lung lung benign neoplasm lung benign neoplasm MONDO:0002734 An anal adenocarcinoma characterized by the presence of mucoid stroma formation. anal colloid adenocarcinoma anal colloidal adenocarcinoma anal mucinous adenocarcinoma anus mucinous adenocarcinoma colloid adenocarcinoma of anus colloid adenocarcinoma of the anus colloidal adenocarcinoma of anus colloidal adenocarcinoma of the anus mucinous adenocarcinoma of anus mucinous adenocarcinoma of the anus anal mucinous adenocarcinoma MONDO:0002735 An anal adenocarcinoma arising from the anal canal mucosa. Morphologically, it resembles the adenocarcinoma which arises from the colorectal glandular epithelium. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding. anal canal adenocarcinoma (disease) adenocarcinoma arising in anal mucosa adenocarcinoma arising in the anal mucosa adenocarcinoma of anal canal adenocarcinoma of the anal canal anal canal adenocarcinoma anal canal adenocarcinoma (disease) anal canal adenocarcinoma MONDO:0002736 A carcinoma with glandular differentiation arising from the ampulla of Vater. Morphologically, it is characterized by the presence of mucoid stroma formation. ampulla of Vater mucinous adenocarcinoma hepatopancreatic ampulla mucinous adenocarcinoma ampulla of vater mucinous adenocarcinoma MONDO:0002737 A acute transudative otitis media which involves bloody effusion. acute sanguinous otitis media MONDO:0002738 Acute form of non-suppurative otitis media. acute non-suppurative otitis media acute nonsuppurative otitis media acute otitis media with effusion acute secretory otitis media acute transudative otitis media non-suppurative otitis media, acute acute transudative otitis media MONDO:0002739 An adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of extracellular mucin that constitutes more than fifty-percent of the tumor. bile duct colloid carcinoma bile duct colloidal carcinoma bile duct mucinous adenocarcinoma colloid adenocarcinoma of bile duct colloid adenocarcinoma of extrahepatic bile duct colloid adenocarcinoma of the bile duct colloid adenocarcinoma of the extrahepatic bile duct colloid bile duct adenocarcinoma colloid bile duct carcinoma colloid carcinoma of bile duct colloid carcinoma of the bile duct colloid extrahepatic bile duct adenocarcinoma colloidal adenocarcinoma of bile duct colloidal adenocarcinoma of extrahepatic bile duct colloidal adenocarcinoma of the bile duct colloidal adenocarcinoma of the extrahepatic bile duct colloidal bile duct adenocarcinoma colloidal bile duct carcinoma colloidal carcinoma of bile duct colloidal carcinoma of the bile duct colloidal extrahepatic bile duct adenocarcinoma extrahepatic bile duct mucinous adenocarcinoma mucinous adenocarcinoma of bile duct mucinous adenocarcinoma of extrahepatic bile duct mucinous adenocarcinoma of the bile duct mucinous adenocarcinoma of the extrahepatic bile duct mucinous bile duct adenocarcinoma mucinous carcinoma of bile duct mucinous carcinoma of the bile duct mucinous extrahepatic bile duct adenocarcinoma extrahepatic bile duct mucinous adenocarcinoma MONDO:0002740 A rare mucinous adenocarcinoma that arises from the uterine ligament. uterine ligament mucinous adenocarcinoma uterine ligament mucinous adenocarcinoma MONDO:0002741 A rare adenocarcinoma that arises from the uterine ligament. uterine ligament adenocarcinoma uterine ligament adenocarcinoma MONDO:0002742 A usually well to moderately differentiated cervical adenocarcinoma characterized by the presence of malignant glandular cells that contain significant amount of intracytoplasmic mucin. cervical mucinous adenocarcinoma uterine cervix mucinous adenocarcinoma cervical mucinous adenocarcinoma MONDO:0002744 An extremely rare adenocarcinoma that arises from the fallopian tube. It is characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin. The cases that have been reported are predominantly in situ mucinous adenocarcinomas. fallopian tube mucinous adenocarcinoma fallopian tube mucinous adenocarcinoma MONDO:0002745 A rare borderline or malignant epithelial tumor of the fallopian tube characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract. fallopian tube mucinous neoplasm fallopian tube mucinous tumor fallopian tube mucinous tumor MONDO:0002746 A carcinoma that arises from glandular epithelial cells of the fallopian tube adenocarcinoma of fallopian tube adenocarcinoma of the fallopian tube fallopian tube adenocarcinoma fallopian tube adenocarcinoma MONDO:0002747 A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin. endometrial mucinous adenocarcinoma endometrium mucinous adenocarcinoma uterine corpus mucinous adenocarcinoma uterine mucinous carcinoma endometrial mucinous adenocarcinoma MONDO:0002748 An invasive adenocarcinoma of the rectum characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion. colloid adenocarcinoma of rectum colloid adenocarcinoma of the rectum colloidal adenocarcinoma of rectum colloidal adenocarcinoma of the rectum mucinous adenocarcinoma of rectum mucinous adenocarcinoma of the rectum rectal colloid adenocarcinoma rectal colloidal adenocarcinoma rectal mucinous adenocarcinoma rectum mucinous adenocarcinoma rectum mucinous adenocarcinoma MONDO:0002749 A neuroblastoma arising from an anatomic site other than the brain. extracranial neuroblastoma extracranial neuroblastoma MONDO:0002750 bladder mucinous adenocarcinoma bladder colloid adenocarcinoma MONDO:0002751 A carcinoma that arises from glandular epithelial cells of the urinary bladder adenocarcinoma of bladder adenocarcinoma of the bladder adenocarcinoma of the urinary bladder adenocarcinoma of urinary bladder bladder adenocarcinoma urinary bladder adenocarcinoma blad bladder adenocarcinoma MONDO:0002752 An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma. adenocarcinoma of ovary adenocarcinoma of the ovary ovarian adenocarcinoma ovary adenocarcinoma ovarian adenocarcinoma MONDO:0002754 A plasma cell neoplasm arising at an extraosseous site. There is no involvement of the bone marrow. It most frequently involves the oropharynx, nasopharynx, sinuses, and larynx. Other sites of involvement include the gastrointestinal tract, central nervous system, breast, skin, lymph nodes, and bladder. A minority of patients have a monoclonal gammopathy. Treatment includes radiation therapy. Progression to plasma cell myeloma occurs in a minority of patients. extramedullary plasmacytoma extramedullary plasmacytoma (clinical) extraosseous plasmacytoma plasmacytoma, extramedullary plasmacytoma, extramedullary (not occurring in bone) EP extramedullary plasmacytoma MONDO:0002755 A localized, clonal (malignant) plasma cell infiltrate in the bone, without peripheral blood involvement. The most commonly affected bones are the vertebrae, ribs, skull, pelvis and femur. X-rays examination reveals a solitary lytic lesion. isolated osseous plasmacytoma isolated plasmacytoma of bone solitary plasmacytoma of bone SPB solitary osseous plasmacytoma MONDO:0002756 A solitary plasmacytoma that arises from the chest wall. chest wall plasmacytoma chest wall solitary plasmacytoma plasmacytoma of chest wall solitary plasmacytoma of chest wall solitary plasmacytoma of the chest wall solitary plasmacytoma of chest wall MONDO:0002757 A acute sanguinous otitis media caused by an allergen. acute allergic sanguinous otitis media MONDO:0002758 A highly differentiated squamous cell carcinoma that arises from the vulva. It is characterized by the presence of a warty and hyperkeratinized surface, malignant cells with abundant eosinophilic cytoplasm, minimal cytologic atypia, and absence or rarity of mitotic figures. The tumor infiltrates the underlying stroma with a pushing border. mammalian vulva verrucous carcinoma verrucous carcinoma of the vulva verrucous carcinoma of vulva vulvar verrucous carcinoma vulva verrucous carcinoma MONDO:0002759 A verrucous carcinoma that involves the urinary bladder. bladder verrucous carcinoma bladder verrucous squamous cell carcinoma urinary bladder verrucous carcinoma bladder verrucous carcinoma MONDO:0002760 A squamous cell carcinoma of the bladder arising from metaplastic epithelium. It represents less than 10% of bladder carcinomas. The exception is the Middle East along the Nile Valley, where it represents the most common form of carcinoma because of the endemic nature of schistosomiasis. Bladder squamous cell carcinoma is often associated with long-standing chronic inflammation of the bladder and usually has a poor prognosis. The diagnosis of squamous cell carcinoma of the bladder should be reserved for those tumors that are predominantly keratin forming. bladder epidermoid carcinoma bladder squamous cell cancer bladder squamous cell carcinoma epidermoid carcinoma of bladder epidermoid carcinoma of the bladder epidermoid carcinoma of the urinary bladder epidermoid carcinoma of urinary bladder squamous cell carcinoma of bladder squamous cell carcinoma of the bladder squamous cell carcinoma of the urinary bladder squamous cell carcinoma of urinary bladder urinary bladder epidermoid carcinoma urinary bladder squamous cell carcinoma BLSC bladder squamous cell carcinoma MONDO:0002761 A highly differentiated variant of cervical squamous cell carcinoma characterized by the presence of a warty surface and stromal invasion with pushing borders. The malignant cells have abundant cytoplasm and minimal nuclear atypia. Koilocytosis is not present. cervical verrucous carcinoma uterine cervix verrucous carcinoma cervical verrucous carcinoma MONDO:0002762 A rare variant of esophageal squamous cell carcinoma. It is an exophytic, cauliflower-like or papillary mass that can arise in any part of the esophagus. This variant of squamous cell carcinoma grows slowly and invades locally, with a very low metastasizing potential. (WHO) esophageal verrucous cancer esophageal verrucous carcinoma esophagus verrucous carcinoma verrucous carcinoma of esophagus verrucous carcinoma of the esophagus esophagus verrucous carcinoma MONDO:0002763 A verrucous carcinoma that involves the urethra. urethra verrucous carcinoma urethral verrucous carcinoma urethral verrucous carcinoma MONDO:0002764 A well differentiated, moderately differentiated, or poorly differentiated squamous cell carcinoma that arises from the male or female urethra. epidermoid carcinoma of the urethra epidermoid carcinoma of urethra squamous cell carcinoma of the urethra squamous cell carcinoma of urethra urethra epidermoid carcinoma urethra squamous cell carcinoma urethral epidermoid carcinoma urethral squamous cell cancer urethral squamous cell carcinoma USCC urethra squamous cell carcinoma MONDO:0002765 A verrucous carcinoma that involves the plantar part of pes. plantar part of pes verrucous carcinoma plantar verrucous carcinoma of skin plantar verrucous carcinoma of the skin plantar verrucous skin carcinoma plantar verrucous skin carcinoma MONDO:0002766 A well differentaited, non-metastasizing squamous cell carcinoma arising from the larynx. It is an exophytic, warty, and slow growing tumor affecting predominantly older men. It is associated with tobacco smoking. Symptoms include hoarseness, airway obstruction, weight loss, dysphagia, and throat pain. If left untreated, it may cause extensive local destruction. laryngeal throat verrucous cancer laryngeal verrucous carcinoma larynx verrucous carcinoma verrucous carcinoma of larynx verrucous carcinoma of the larynx larynx verrucous carcinoma MONDO:0002768 A rare condition characterized by the unequivocal presence of both testicular and ovarian tissues in an individual. It is usually manifested with ambiguous external genitalia. hermaphroditism ovotestis true hermaphroditism true hermaphroditism MONDO:0002769 Whitish or yellowish mucosal vaginal discharge. discharge - leukorrhea leukorrhea of vagina leukorrhea MONDO:0002770 Normal or abnormal secretions from the vagina. Mucus produced by the cervical glands is discharged from the vagina naturally, especially during the childbearing years. Causes of abnormal vaginal discharge include infectious agents (e.g., Neisseria gonorrhea, Chlamydia trachomatis, Trichomonas, and Candida albicans), the presence of foreign bodies, and cervical or vaginal cancer. Discharge, vaginal vaginal discharge MONDO:0002771 Chronic progressive interstitial lung disorder characterized by the replacement of the lung tissue by connective tissue, leading to progressive dyspnea, respiratory failure, or right heart failure. Causes include chronic inflammatory processes, exposure to environmental irritants, radiation therapy, autoimmune disorders, certain drugs, or it may be idiopathic (no identifiable cause). fibrosis of lung pulmonary interstitial fibrosis pulmonary fibrosis MONDO:0002772 A meningioma that affects the ventricles of the brain. brain ventricle meningioma (disease) meningioma (disease) of brain ventricle intraventricular meningioma MONDO:0002775 The absence of ovulation. anovulation MONDO:0002776 A disease involving the external ear. disease of external ear disease or disorder of external ear disorder of external ear external ear disease external ear disease or disorder external ear disorder preauricular sinus and fistula preauricular cyst preauricular cyst (disorder) preauricular sinus and fistula (disorder) preauricular sinus or fistula preauricular sinus or fistula NOS (disorder) external ear disorder MONDO:0002778 A meningioma that arises in the epidural spinal canal space. meningioma of epidural spinal canal meningioma of the epidural spinal canal epidural spinal canal meningioma MONDO:0002779 An extraskeletal chondroma usually arising from the dura. CNS chondroma CNS osteochondroma central nervous system chondroma central nervous system osteochondroma chondroma of CNS chondroma of central nervous system chondroma of the CNS chondroma of the central nervous system osteochondroma of CNS osteochondroma of central nervous system osteochondroma of the CNS osteochondroma of the central nervous system central nervous system chondroma MONDO:0002781 Paralysis of the glossopharyngeal nerve. cranial nerve palsy of glossopharyngeal nerve glossopharyngeal nerve cranial nerve palsy glossopharyngeal nerve paralysis MONDO:0002782 Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness. cranial nerve palsy cranial nerve paralysis cranial nerve palsies cranial nerve palsy MONDO:0002783 Hemorrhagic necrosis that was first demonstrated in rabbits with a two-step reaction, an initial local (intradermal) or general (intravenous) injection of a priming endotoxin (endotoxins) followed by a second intravenous endotoxin injection (provoking agent) 24 h later. The acute inflammation damages the small blood vessels. The following intravascular coagulation leads to capillary and venous thrombosis and necrosis. Shwartzman phenomenon can also occur in other species with a single injection of a provoking agent, and during infections or pregnancy. Its susceptibility depends on the status of immune system, coagulation, fibrinolysis, and blood flow. Shwartzman reaction Shwartzman reaction (function) Shwartzman phenomenon https://rarediseases.info.nih.gov/diseases/7636/shwartzman-phenomenon MONDO:0002785 A benign or malignant neoplasm that affects the skull base. basicranium neoplasm basicranium neoplasm (disease) basicranium tumor neoplasm of basicranium neoplasm of skull base neoplasm of the skull base skull base neoplasm skull base tumor tumor of basicranium tumor of skull base tumor of the skull base tumors of skull base skull base cancer skull base neoplasm MONDO:0002786 A cancer involving a diencephalon. cancer of diencephalon diencephalon cancer malignant diencephalic neoplasm malignant diencephalic neoplasms malignant diencephalic tumor malignant diencephalon neoplasm malignant neoplasm of diencephalon tumor of diencephalon diencephalic neoplasm diencephalic cancer MONDO:0002787 A craniopharyngioma consisting of broad strands, cords and bridges of a multistratified squamous epithelium with peripheral palisading of nuclei. Diagnostic features include nodules of compact 'wet' keratin and dystrophic calcification. (Adapted from WHO) adamantinomatous craniopharyngioma adamantinous Rathke's pouch neoplasm adamantinous Rathke's pouch tumor adamantinous craniopharyngioma (morphologic abnormality) adamantinous neoplasm of Rathke's pouch adamantinous tumor of Rathke's pouch craniopharyngioma, adamantinomatous adamantinous craniopharyngioma MONDO:0002788 A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO) craniopharyngioma, papillary craniopharyngioma, papillary (morphologic abnormality) papillary Rathke pouch neoplasm papillary Rathke's pouch neoplasm papillary Rathke's pouch tumor papillary craniopharyngioma (morphologic abnormality) papillary neoplasm of Rathke's pouch papillary tumor of Rathke's pouch papillary craniopharyngioma MONDO:0002789 A term that refers to vascular neoplasms with a prominent hemangiopericytic growth pattern. hemangiopericytic neoplasm Editor note: TODO check relationship to spindle cell tumor hemangiopericytic tumor MONDO:0002790 A benign or malignant neoplasm that affects the seminal vesicle. Representative examples include cystadenoma and adenocarcinoma. neoplasm of seminal vesicle seminal vesicle neoplasm seminal vesicle neoplasm (disease) seminal vesicle tumor tumor of seminal vesicle seminal vesicle tumor MONDO:0002791 A medulloblastoma composed of large cells with prominent nucleoli and a larger amount of cytoplasm in contrast with the cells of the classic medulloblastoma. large cell medulloblastoma large cell medulloblastoma (morphologic abnormality) large cell medulloblastoma MONDO:0002792 A medulloblastoma arising from the vermis of the cerebellum. cerebellar vermis medulloblastoma medulloblastoma of cerebellar vermis medulloblastoma of the cerebellar vermis vermis medulloblastoma cerebellar vermis medulloblastoma MONDO:0002794 A medulloblastoma arising from the brain, occurring in adults. medulloblastoma adult brain medulloblastoma medulloblastoma of adults adult medulloblastoma MONDO:0002795 A central nervous system embryonal tumor, not otherwise specified that occurs in adults. adult CNS PNET adult CNS primitive neuroectodermal neoplasm adult CNS primitive neuroectodermal tumor adult central nervous system primitive neuroectodermal neoplasm adult central nervous system primitive neuroectodermal tumor adult central primitive neuroectodermal neoplasm adult central primitive neuroectodermal tumour central nervous system primitive neuroectodermal neoplasm of adults adult central nervous system primitive neuroectodermal neoplasm MONDO:0002796 A rare malignant embryonal neoplasm characterized by the presence of small cells which resemble the cells of classic medulloblastoma and a minor population of melanin-forming neuroepithelial cells. It usually has an unfavorable clinical course. medulloblastoma with melanotic differentiation medulloblastoma, melanotic medulloblastoma, melanotic (morphologic abnormality) melanocytic medulloblastoma melanotic medulloblastoma MMBL melanotic medulloblastoma MONDO:0002797 A medulloblastoma occurring in children. medulloblastoma childhood medulloblastoma medulloblastoma of childhood pediatric medulloblastoma medulloblastoma, childhood childhood medulloblastoma https://rarediseases.info.nih.gov/diseases/9350/medulloblastoma-childhood MONDO:0002798 A central nervous system embryonal tumor, not otherwise specified that occurs in childhood. Central nervous system embryonal tumor, NOS central nervous system primitive neuroectodermal neoplasm of childhood childhood CNS PNET childhood CNS primitive neuroectodermal neoplasm childhood CNS primitive neuroectodermal tumor childhood central nervous system PNET childhood central nervous system primitive neuroectodermal neoplasm childhood central nervous system primitive neuroectodermal tumor childhood central primitive neuroectodermal neoplasm childhood central primitive neuroectodermal tumor pediatric CNS PNET pediatric CNS primitive neuroectodermal neoplasm pediatric CNS primitive neuroectodermal tumor pediatric central nervous system primitive neuroectodermal neoplasm pediatric central nervous system primitive neuroectodermal tumor pediatric central primitive neuroectodermal neoplasm pediatric central primitive neuroectodermal tumor childhood central nervous system primitive neuroectodermal neoplasm MONDO:0002799 A medulloblastoma characterized by nodularity and neuronal differentiation. nodular medulloblastoma MONDO:0002800 Inflammation of the veins associated with the presence of a thrombus. phlebitis and thrombophlebitis of superficial vessels of lower extremities superficial thrombophlebitis of leg thrombophlebitis of a superficial leg vein thrombophlebitis of superficial veins of lower extremity thrombophlebitis MONDO:0002801 Functional obstruction of the colon leading to megacolon in the absence of obvious colonic diseases or mechanical obstruction. When this condition is acquired, acute, and coexisting with another medical condition (trauma, surgery, serious injuries or illness, or medication), it is called Ogilvie's syndrome. primary chronic pseudo-obstruction of colon Ogilvie's syndrome ACPO acute colonic ileus acute colonic pseudo-obstruction colonic pseudo-obstruction MONDO:0002802 Chronic or recurrent colonic disorders without an identifiable structural or biochemical explanation. The widely recognized irritable bowel syndrome falls into this category. functional colonic disease MONDO:0002803 Intestinal pseudo-obstruction is a digestive disorder in whichthe intestinal walls are unable to contract normally (called hypomotility); the conditionresembles a true obstruction, but no actual blockage exists. Signs and symptoms may include abdominal pain; vomiting; diarrhea; constipation; malabsorption of nutrients leading to weight loss and/or failure to thrive ; and other symptoms. It may be classified as neuropathic (from lack of nerve function)or myopathic (from lack of muscle function), depending on the source of the abnormality. The condition is sometimes inherited (in an X-linked recessive or autosomal dominant manner)and may be caused by mutations in the FLNA gene; it may also be acquired after certain illnesses. The goal of treatment is to provide relief from symptoms andensure that nutritional support is adequate. intestinal pseudo-obstruction intestine pseudoobstruction pseudo-obstruction of intestine hollow visceral myopathy intestinal pseudoobstruction intestinal pseudo-obstruction https://rarediseases.info.nih.gov/diseases/6789/intestinal-pseudo-obstruction MONDO:0002804 A benign epithelial neoplasm arising from the apocrine sweat glands. Representative examples include tubular apocrine adenoma and external auditory canal ceruminous adenoma. tubular apocrine adenoma apocrine adenoma MONDO:0002805 A benign epithelial neoplasm arising from the sweat glands. Variants include the clear cell and nodular hidradenoma. hidradenoma hidradenoma of skin syringoadenoma acrospiroma eccrine acrospiroma sweat gland adenoma hidradenoma MONDO:0002806 A lung carcinoma arising from the bronchial epithelium. BC - bronchogenic carcinoma bronchial carcinoma bronchiogenic carcinoma bronchogenic carcinoma bronchogenic lung cancer bronchogenic lung carcinoma bronchus carcinoma carcinoma of bronchus carcinoma, bronchial, malignant bronchogenic carcinoma MONDO:0002807 Tumors or cancer of the bronchi. bronchial neoplasm (disease) bronchial neoplasm bronchial neoplasm (disease) bronchus neoplasm bronchus neoplasm (disease) bronchus tumor neoplasm of bronchus tumor of bronchus bronchial neoplasm MONDO:0002808 A benign, non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of glycogen-rich epithelial cells which produce a watery fluid. Signs and symptoms include abdominal mass, abdominal pain, nausea, vomiting, and weight loss. pancreas serous cystadenoma pancreatic microcystic adenoma pancreatic serous cystadenoma serous cystadenoma of pancreas serous cystadenoma of the pancreas PSC pancreatic serous cystadenoma MONDO:0002809 A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. cystadenoma of pancreas cystadenoma of the pancreas exocrine pancreas cystadenoma pancreatic cystadenoma pancreatic cystadenoma MONDO:0002810 A benign or malignant epithelial neoplasm that is usually cystic and arises from the exocrine pancreas. It is characterized by the presence of neoplastic epithelial cells that produce fluid similar to serum. Representative examples include serous cystadenoma and serous cystadenocarcinoma. pancreatic serous cystic neoplasm pancreatic serous neoplasm pancreatic serous cystic neoplasm MONDO:0002811 A malignant neoplasm involving the main bronchus. Ca main bronchus cancer of main bronchus main bronchus cancer malignant main bronchus neoplasm malignant neoplasm of main bronchus main bronchus cancer MONDO:0002812 Inflammation of the anatomical structures of the inner ear secondary to an infectious process. Symptoms include severe vertigo, nausea, vomiting, anxiety, and pain. Viral etiology is most common, and recent history of an upper respiratory infection is common. In rare cases an infection of the middle ear can spread to the inner ear, resulting in a bacterial or fungal etiology. infectious labyrinthitis infectious otitis interna inner Ear infection inner ear infection internal Ear infection infectious otitis interna MONDO:0002813 A malignant mesenchymal neoplasm arising from adipocytes. adipose tissue cancer cancer of adipose tissue malignant adipose tissue neoplasm malignant adipose tissue tumor malignant lipomatous neoplasm malignant lipomatous tumor malignant neoplasm of adipose tissue malignant neoplasm of the adipose tissue malignant tumor of adipose tissue malignant tumor of the adipose tissue lipomatous cancer MONDO:0002814 A carcinoma involving a adrenal gland. adrenal gland carcinoma carcinoma of adrenal gland carcinoma of the adrenal gland adrenal carcinoma MONDO:0002815 The sudden onset of inflammation of heart muscle with myocellular necrosis; this is generally secondary to an infectious cause, and patients often have a recent history of a flu-like illness. myocarditis, acute acute myocarditis MONDO:0002816 A disease involving the adrenal cortex. adrenal cortex disease adrenal cortex disease or disorder disease of adrenal cortex disease or disorder of adrenal cortex disorder of adrenal cortex adrenal cortex disorder MONDO:0002817 A malignant neoplasm involving the adrenal gland adrenal neoplasm tumor of the adrenal gland adrenal cancer adrenal gland cancer cancer of adrenal gland malignant adrenal gland neoplasm malignant adrenal gland tumor malignant adrenal neoplasm malignant adrenal tumor malignant neoplasm of adrenal gland malignant neoplasm of the adrenal gland malignant tumor of adrenal gland malignant tumor of the adrenal gland adrenal gland cancer MONDO:0002821 follicular adenocarcinoma, trabecular follicular adenocarcinoma, trabecular (morphologic abnormality) trabecular follicular carcinoma trabecular follicular adenocarcinoma MONDO:0002822 A malignant epithelial neoplasm characterized by the presence of a trabecular glandular architectural pattern. trabecula adenocarcinoma trabecular adenocarcinoma trabecular adenocarcinoma (morphologic abnormality) trabecular carcinoma Merkel cell carcinoma trabecular adenocarcinoma MONDO:0002824 A cardiomyopathy that is not due to abnormalities in heart muscle cells. secondary cardiomyopathy extrinsic cardiomyopathy MONDO:0002828 A rare carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant urothelial-type epithelial cells. Bartholin gland transitional cell carcinoma Bartholin's gland transitional cell carcinoma major vestibular gland transitional cell carcinoma Bartholin gland transitional cell carcinoma MONDO:0002829 A carcinoma that arises from the Bartholin gland. It usually affects women over fifty and presents with enlargement of the Bartholin gland. Various histologic subtypes have been identified and include adenocarcinoma, squamous cell carcinoma, adenoid cystic carcinoma, adenosquamous carcinoma, transitional cell carcinoma, and small cell carcinoma. Bartholin gland cancer Bartholin gland carcinoma (disease) Bartholin's gland cancer Bartholin's gland carcinoma bartholin gland carcinoma carcinoma of Bartholin's gland carcinoma of major vestibular gland carcinoma of the Bartholin's gland major vestibular gland carcinoma bartholin gland carcinoma MONDO:0002831 A squamous cell carcinoma of the sinonasal tract characterized by a plexiform or ribbon-like growth pattern, cytological atypia, and lack of histological evidence of keratinization. cylindrical cell carcinoma non-keratinizing sinonasal squamous cell carcinoma Ringertz carcinoma Schneiderian carcinoma Sinonasal Schneiderian carcinoma Sinonasal cylindrical cell carcinoma Sinonasal transitional cell carcinoma sinonasal squamous cell carcinoma Editor note: TODO check ONCOTREE mapping non-keratinizing sinonasal squamous cell carcinoma MONDO:0002832 A rare primary carcinoma of the endometrium characterized by the presence of malignant epithelial cells resembling urothelial transitional cells. The malignant transitional cells constitute at least 90% of the tumor cells. endometrial transitional cell carcinoma endometrial transitional cell carcinoma MONDO:0002833 A rare transitional cell carcinoma that arises from the fallopian tube. fallopian tube transitional cell cancer fallopian tube transitional cell carcinoma fallopian tube transitional cell carcinoma MONDO:0002834 An urothelial carcinoma that arises from the urothelial lining of the prostatic ducts or the prostatic urethra. primary prostate urothelial cancer primary prostate urothelial carcinoma prostate gland transitional cell carcinoma prostate transitional cell carcinoma prostate urothelial carcinoma transitional cell carcinoma of prostate transitional cell carcinoma of the prostate primary prostate urothelial carcinoma MONDO:0002836 A transitional cell carcinoma that arises from the male or female urethra. transitional cell carcinoma of the urethra transitional cell carcinoma of urethra urethra transitional cell carcinoma urethral transitional cell carcinoma urethral urothelial cancer urethral urothelial carcinoma UCU urethra transitional cell carcinoma MONDO:0002837 A poorly differentiated transitional cell carcinoma characterized by the presence of malignant cells with spindle cell morphologic features. sarcomatoid transitional cell carcinoma transitional cell carcinoma, sarcomatoid transitional cell spindle cell carcinoma transitional spindle cell carcinoma sarcomatoid transitional cell carcinoma MONDO:0002839 A cancer-related condition in which the gastric wall becomes thickened and rubbery (leather-bottle stomach). It is most often associated with diffuse gastric adenocarcinomas. linitis plastica linitis plastica (morphologic abnormality) leather-bottle stomach MONDO:0002840 An eosinophilic gastroenteritis that is characterized by inflammation of the stomach. https://github.com/monarch-initiative/mondo/issues/403 eosinophilic gastritis eosinophilic gastritis MONDO:0002842 Gastritis resulting from bacteria. Bacteria caused gastritis (disease) Bacteria gastritis (disease) bacterial gastritis bacterial gastritis MONDO:0002843 Gastritis resulting from fungi. Fungi caused gastritis (disease) Fungi gastritis (disease) fungal gastritis fungal gastritis MONDO:0002844 lymphocytic gastritis lymphocytic gastritis MONDO:0002845 A variant of phlegmonous gastritis, typically progressing to gastric gangrene. necrotizing gastritis necrotizing gastritis MONDO:0002846 Gastritis that is associated with the presence of granulomas. granulomatous gastritis granulomatous gastritis MONDO:0002847 A malignant neoplasm arising from skeletal muscle. cancer of skeletal muscle tissue malignant neoplasm of skeletal muscle malignant neoplasm of skeletal muscle tissue malignant neoplasm of the skeletal muscle malignant skeletal muscle neoplasm malignant skeletal muscle tissue neoplasm malignant skeletal muscle tumor malignant tumor of skeletal muscle malignant tumor of the skeletal muscle skeletal muscle tissue cancer skeletal muscle cancer MONDO:0002848 A benign or malignant mesenchymal neoplasm arising from skeletal muscle. neoplasm of skeletal muscle neoplasm of skeletal muscle tissue neoplasm of the skeletal muscle skeletal muscle neoplasm skeletal muscle tissue neoplasm skeletal muscle tissue neoplasm (disease) skeletal muscle tissue tumor skeletal muscle tumor tumor of skeletal muscle tumor of skeletal muscle tissue tumor of the skeletal muscle skeletal muscle neoplasm MONDO:0002849 A malignant mesenchymal tumor with skeletal muscle differentiation affecting the liver. hepatic rhabdomyosarcoma liver rhabdomyosarcoma liver rhabdomyosarcoma (disease) rhabdomyosarcoma (disease) of liver rhabdomyosarcoma of liver rhabdomyosarcoma of the liver liver rhabdomyosarcoma MONDO:0002850 A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the central nervous system. CNS rhabdomyosarcoma central nervous system rhabdomyosarcoma central nervous system rhabdomyosarcoma (disease) rhabdomyosarcoma (disease) of central nervous system rhabdomyosarcoma of CNS rhabdomyosarcoma of central nervous system rhabdomyosarcoma of the CNS rhabdomyosarcoma of the central nervous system central nervous system rhabdomyosarcoma MONDO:0002851 A malignant mesenchymal tumor with skeletal muscle differentiation affecting the mediastinum. mediastinal rhabdomyosarcoma mediastinum rhabdomyosarcoma (disease) rhabdomyosarcoma (disease) of mediastinum rhabdomyosarcoma of mediastinum rhabdomyosarcoma of the mediastinum mediastinum rhabdomyosarcoma MONDO:0002852 A rare sarcoma that arises from the mediastinum. Examples include liposarcoma, leiomyosarcoma, and angiosarcoma. mediastinal sarcoma mediastinum sarcoma sarcoma of mediastinum sarcoma of the mediastinum mediastinum sarcoma MONDO:0002853 A malignant mesenchymal tumor with skeletal muscle differentiation affecting the rectum. rectal rhabdomyosarcoma rectum rhabdomyosarcoma (disease) rhabdomyosarcoma (disease) of rectum rhabdomyosarcoma of rectum rhabdomyosarcoma of the rectum rectum rhabdomyosarcoma MONDO:0002854 A rare malignant soft tissue neoplasm that arises from the prostate gland. Representative examples include leiomyosarcoma, rhabdomyosarcoma, and stromal sarcoma. prostate gland sarcoma prostate sarcoma sarcoma of prostate sarcoma of prostate gland sarcoma of the prostate prostate sarcoma MONDO:0002855 An aggressive malignant mesenchymal neoplasm of the nervous system or soft tissues. It is characterized by the presence of a sarcomatous component (most often rhabdomyosarcoma) and a ganglionic or a neuroectodermal component. ectomesenchymoma malignant ectomesenchymoma rhabdomyosarcoma with ganglionic differentiation rhabdomyosarcoma with ganglionic differentiation (morphologic abnormality) sarcoma with ganglionic or neuroectodermal differentiation ectomesenchymoma MONDO:0002856 A rhabdomyosarcoma that is located in the gallbladder. gall bladder rhabdomyosarcoma gall bladder rhabdomyosarcoma (disease) gallbladder rhabdomyosarcoma rhabdomyosarcoma (disease) of gall bladder rhabdomyosarcoma of gallbladder rhabdomyosarcoma of the gallbladder gallbladder rhabdomyosarcoma MONDO:0002857 A malignant soft tissue neoplasm that arises from the gallbladder. Representative examples include Kaposi sarcoma, leiomyosarcoma, and rhabdomyosarcoma. gall bladder sarcoma gallbladder sarcoma malignant mesenchymal tumor of gallbladder sarcoma of gall bladder sarcoma of gallbladder sarcoma of the gallbladder gallbladder sarcoma MONDO:0002858 A malignant mesenchymal tumor with skeletal muscle differentiation affecting the ovaries. ovarian rhabdomyosarcoma ovary rhabdomyosarcoma (disease) rhabdomyosarcoma (disease) of ovary rhabdomyosarcoma of ovary rhabdomyosarcoma of the ovary ovary rhabdomyosarcoma MONDO:0002859 A malignant mesenchymal tumor with skeletal muscle differentiation affecting the breast. breast rhabdomyosarcoma breast rhabdomyosarcoma (disease) rhabdomyosarcoma (disease) of breast rhabdomyosarcoma of breast rhabdomyosarcoma of the breast breast rhabdomyosarcoma MONDO:0002860 A malignant mesenchymal tumor with skeletal muscle differentiation affecting the testis. rhabdomyosarcoma (disease) of testis rhabdomyosarcoma of testis rhabdomyosarcoma of the testis testicular rhabdomyosarcoma testis rhabdomyosarcoma (disease) testis rhabdomyosarcoma MONDO:0002861 A sarcoma that arises from the testis. The majority of cases arise from teratomas or spermatocytic seminomas. sarcoma of testis sarcoma of the testis testicular sarcoma testis sarcoma testis sarcoma MONDO:0002862 A sarcoma that involves the bile duct. bile duct sarcoma sarcoma of bile duct sarcoma of the bile duct bile duct sarcoma MONDO:0002863 A rhabdomyosarcoma composed of embryonic and alveolar components. It is characterized by the presence of spindle cells with myoblastic differentiation, a myxoid stroma, and fibrous septa. These tumors were previously considered variants of alveolar rhabdomyosarcoma. The lack of PAX3-FOXO1 fusions in most of these tumors suggests that are biologically and clinically related to embryonal rhabdomyosarcoma. mixed alveolar rhabdomyosarcoma mixed embryonal rhabdomyosarcoma and alveolar rhabdomyosarcoma mixed type alveolar rhabdomyosarcoma mixed type rhabdomyosarcoma rhabdomyosarcoma with mixed embryonal and alveolar features rhabdomyosarcoma with mixed embryonal and alveolar features MONDO:0002864 A malignant mesenchymal tumor with skeletal muscle differentiation affecting the anus. anal rhabdomyosarcoma anus rhabdomyosarcoma (disease) rhabdomyosarcoma (disease) of anus rhabdomyosarcoma of anus rhabdomyosarcoma of the anus anus rhabdomyosarcoma MONDO:0002865 A malignant soft tissue neoplasm arising from the anus. Representative examples include leiomyosarcoma, rhabdomyosarcoma, and Kaposi sarcoma. anal sarcoma anus sarcoma sarcoma of anus sarcoma of the anus anus sarcoma MONDO:0002866 Pathological conditions in the duodenum region of the small intestine (intestine, small). disease of duodenum disease or disorder of duodenum disorder of duodenum duodenum disease duodenum disease or disorder duodenum disorder duodenal disorder MONDO:0002867 A cystic adenocarcinoma that arises from the pancreas. It includes the acinar cell and serous cystadenocarcinoma subtypes. cystadenocarcinoma - pancreas cystadenocarcinoma of pancreas cystadenocarcinoma of the pancreas pancreas cystadenocarcinoma pancreatic cystadenocarcinoma pancreatic cystadenocarcinoma MONDO:0002868 A mucinous cystic neoplasm that arises from the intrahepatic or extrahepatic bile ducts and it is associated with an invasive carcinomatous component. biliary cystadenocarcinoma bile duct cystadenocarcinoma bile duct cystadenocarcinoma (morphologic abnormality) bile duct mucinous cystic neoplasm with an associated invasive carcinoma cystadenocarcinoma of bile duct cystadenocarcinoma of the bile duct Editor note: adenocarcinoma and adenoma are disjoint in MONDO, we represent carcinoma as a distint component bile duct mucinous cystic neoplasm with an associated invasive carcinoma MONDO:0002869 A disease involving the cardial valve. cardial valve disease cardial valve disease or disorder disease of cardial valve disease or disorder of cardial valve disorder of cardial valve disorder of heart valve heart valve disorder valvular heart disease valvular heart disorder heart valve disorder MONDO:0002870 The backflow of blood from the right ventricle into the right atrium, owning to imperfect functioning/insufficiency of the tricuspid valve. insufficiency, tricuspid tricuspid incompetence tricuspid insufficiency tricuspid regurgitation tricuspid valve regurgitation tricuspid valve insufficiency MONDO:0002871 A tumor that arises from the testis and is composed of neoplastic trophoblastic cells. The vast majority of cases are choriocarcinomas. testicular trophoblastic tumor testicular trophoblastic tumor MONDO:0002872 A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells. Representative examples include hydatidiform mole and choriocarcinoma. neoplasm of trophoblast trophoblast neoplasm trophoblast neoplasm (disease) trophoblast tumor trophoblastic neoplasm trophoblastic neoplasm (morphologic abnormality) trophoblastic neoplasm NOS (morphologic abnormality) trophoblastic neoplasms trophoblastic tumor trophoblastic tumor (qualifier value) tumor of trophoblast trophoblastic neoplasm MONDO:0002874 A germ cell tumor that arises from the testis and is characterized by the presence of one histologic component. This category includes seminoma, teratoma, embryonal carcinoma, yolk sac tumor, and trophoblastic tumor. testicular Pure germ cell tumor testicular pure germ cell tumor MONDO:0002875 Infestations by parasites which live on, or burrow into, the surface of their host's epidermis. Most ectoparasites are arthropods. ectoparasitism Infestations, ectoparasitic ectoparasitic infestation infestation, ectoparasitic parasitic ectoparasitic infectious disease MONDO:0002876 A rare malignant mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign epithelial elements. adenosarcoma of the cervix uteri adenosarcoma of uterine cervix cervical Muellerian adenosarcoma cervical Mullerian adenosarcoma cervical Müllerian adenosarcoma cervical adenosarcoma uterine cervix adenosarcoma cervical adenosarcoma MONDO:0002877 A mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign or malignant epithelial elements. This category includes adenosarcoma and carcinosarcoma. carcinosarcoma of the cervix uteri cervical carcinosarcoma cervical malignant Mullerian mixed tumor cervical malignant Müllerian mixed tumor cervical malignant mixed Mullerian tumor cervical malignant mixed mesodermal (Mullerian) tumor cervical malignant mixed mesodermal (Müllerian) tumor cervical malignant mixed mesodermal mullerian tumor cervical mixed epithelial and mesenchymal neoplasm malignant Mullerian mixed tumor of the cervix uteri malignant Müllerian mixed tumor of the cervix uteri uterine cervix carcinosarcoma cervical carcinosarcoma MONDO:0002878 A primary polypoid malignant neoplasm of the uterine corpus characterized by the presence of a sarcomatous mesenchymal component and a benign epithelial component. Patients usually present with abnormal vaginal bleeding. It is considered a low grade malignant neoplasm and may recur following resection. adenosarcoma of body of uterus adenosarcoma of the body of uterus adenosarcoma of the corpus uteri adenosarcoma of the uterine body adenosarcoma of the uterine corpus adenosarcoma of uterine body adenosarcoma of uterine corpus body of uterus adenosarcoma uterine body adenosarcoma uterine corpus Mullerian adenosarcoma uterine corpus Müllerian adenosarcoma uterine corpus adenosarcoma uterine corpus mullerian adenosarcoma Mullerian adenosarcoma of the uterus adenosarcoma of the uterus uterine adenosarcoma uterine corpus adenosarcoma https://rarediseases.info.nih.gov/diseases/9636/adenosarcoma-of-the-uterus MONDO:0002879 A primary malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. This category includes carcinosarcoma, carcinofibroma, and adenosarcoma. malignant body of uterus mixed neoplasm malignant body of uterus mixed tumor malignant corpus uteri mixed neoplasm malignant corpus uteri mixed tumor malignant mixed neoplasm of body of uterus malignant mixed neoplasm of corpus uteri malignant mixed neoplasm of the body of uterus malignant mixed neoplasm of the corpus uteri malignant mixed neoplasm of the uterine body malignant mixed neoplasm of the uterine corpus malignant mixed neoplasm of uterine body malignant mixed neoplasm of uterine corpus malignant mixed tumor of body of uterus malignant mixed tumor of corpus uteri malignant mixed tumor of the body of uterus malignant mixed tumor of the corpus uteri malignant mixed tumor of the uterine body malignant mixed tumor of the uterine corpus malignant mixed tumor of uterine body malignant mixed tumor of uterine corpus malignant uterine body mixed neoplasm malignant uterine body mixed tumor malignant uterine corpus mixed epithelial and mesenchymal neoplasm malignant uterine corpus mixed tumor uterine body mixed cancer MONDO:0002880 A biphasic neoplasm that arises from the ovary and is characterized by the presence of mullerian-type epithelial tissue in a mesenchymal sarcomatous stroma. The presence of a high grade sarcomatous component is associated with recurrences and metastases. adenosarcoma of ovary ovarian Mullerian adenosarcoma ovarian Müllerian adenosarcoma ovarian adenosarcoma ovarian mesodermal adenosarcoma ovarian mullerian adenosarcoma ovary adenosarcoma ovarian adenosarcoma MONDO:0002881 A malignant mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant mesenchymal component and a benign or atypical mullerian-type epithelial component. adenosarcoma of vagina vagina adenosarcoma vaginal Mullerian adenosarcoma vaginal Müllerian adenosarcoma vaginal adenosarcoma vaginal adenosarcoma MONDO:0002882 A neoplasm with neuroendocrine differentiation that arises from the colon. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). colon NET colon neuroendocrine neoplasm colon neuroendocrine tumor colon neuroendocrine tumor, well differentiated, low or intermediate grade colonic neuroendocrine neoplasm colonic neuroendocrine tumor neuroendocrine neoplasm of colon neuroendocrine neoplasm of the colon neuroendocrine tumor of the colon colon neuroendocrine neoplasm MONDO:0002883 A neoplasm with neuroendocrine differentiation that arises from the small or large intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). intestinal neuroendocrine neoplasm intestine NET intestine neuroendocrine neoplasm intestine neuroendocrine tumor intestine neuroendocrine tumor, well differentiated, low or intermediate grade neuroendocrine neoplasm of intestine neuroendocrine neoplasm of the intestine neuroendocrine tumor of intestine intestinal neuroendocrine benign tumor intestinal neuroendocrine neoplasm MONDO:0002884 A disease involving the nail. disease of nail disease or disorder of nail disorder of nail nail disease nail disease or disorder nail disorder MONDO:0002885 A chronic bacterial infection of major folds of the skin, caused by Corynebacterium minutissimum. infection due to Corynebacterium minutissimum erythrasma MONDO:0002886 A disease involving the common bile duct. common bile duct disease common bile duct disease or disorder disease of common bile duct disease or disorder of common bile duct disorder of common bile duct common bile duct disorder MONDO:0002887 A disease involving the bile duct. bile duct disease bile duct disease or disorder bile duct disorder disease of bile duct disease or disorder of bile duct disorder of bile duct bile duct disorder MONDO:0002888 A meningioma that affects the intraorbital structures. intraorbital meningioma intraorbital meningioma MONDO:0002889 A primary or metastatic malignant neoplasm involving the orbit. neoplasm of orbit proper orbital tumor cancer of orbit of skull malignant neoplasm of orbit malignant neoplasm of orbit of skull malignant neoplasm of the orbit malignant orbit neoplasm malignant orbit of skull neoplasm malignant orbit tumor malignant orbital neoplasm malignant orbital tumor malignant tumor of orbit malignant tumor of the orbit orbit cancer orbit of skull cancer orbital cancer MONDO:0002892 A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells.. chordoma of skull base chordoma of the skull base skull base chordoma skull base chordoma MONDO:0002894 A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the spine. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells. chordoma of spinal column chordoma of spine chordoma of the spinal column spinal Chordomas spinal chordoma spinal column chordoma spinal chordoma MONDO:0002896 The subclinical or symptomatic stage of syphilis, occurring at an average of three weeks after contact with an infected individual. It manifests with one or more painless, indurated ulcers (chancres) of the skin or mucous membranes at the site of inoculation. These lesions heal spontaneously within a few weeks. early symptomatic syphilis early syphilis, symptomatic symptomatic early syphilis primary syphilis MONDO:0002897 The secondary stage of syphilis typically that is characterized by generalized rash (including palms and soles), mucocutaneous lesions, and lymphadenopathy. It usually begins one to two months after the primary stage. secondary syphilis of viscera or bone secondary syphilis MONDO:0002898 A malignant neoplasm involving the zone of skin CA - skin cancer cancer of zone of skin malignant neoplasm of skin malignant neoplasm of the skin malignant neoplasm of zone of skin malignant skin neoplasm malignant skin tumor malignant tumor of skin malignant tumor of the skin malignant zone of skin neoplasm melanoma and non-melanoma skin cancer skin cancer skin cancer, Including melanoma skin neoplasm, malignant zone of skin cancer cancer of skin skin cancer MONDO:0002899 A neuroblastoma in which the differentiating neuroblasts constitute more than five-percent of the tumor cells. differentiating neuroblastoma differentiating neuroblastoma MONDO:0002900 A neuroblastoma arising from the cerebral hemispheres. central nervous system neuroblastoma cerebral hemispheric neuroblastoma cerebral neuroblastoma cerebral neuroblastoma, PNET neuroblastoma of brain neuroblastoma of cerebral hemispheres neuroblastoma of cerebrum neuroblastoma of telencephalon neuroblastoma of the cerebral hemisphere neuroblastoma of the cerebral hemispheres neuroblastoma of the cerebrum telencephalon neuroblastoma cerebral neuroblastoma MONDO:0002901 May be obsoleted as it represents a finding blood group incompatibility MONDO:0002903 A disorder characterized by the failure to use developmentally expected speech sounds that are appropriate for the individual's age (i.e., the individual makes errors in sound production or use or omits sounds such as final consonants). articulation impairment phonological disorder articulation disorder MONDO:0002904 A symptom of neurologic or psychiatric dysfunction in which the individual involuntarily and meaninglessly repeats a recently heard word, series of words, or a song. echolalia (disease) echolalia echolalia (disease) echolalia MONDO:0002905 The inability to generate oral-verbal expression, despite normal comprehension of speech. This may be associated with brain diseases or mental disorders. Organic mutism may be associated with damage to the frontal lobe; brain stem; thalamus; and cerebellum. Selective mutism is a psychological condition that usually affects children characterized by continuous refusal to speak in social situations by a child who is able and willing to speak to selected persons. Kussmal aphasia refers to mutism in psychosis. mutism (disease) mutism mutism (disease) mutism MONDO:0002907 Formation or presence of a blood clot (thrombus) in a blood vessel within the skull. Intracranial thrombosis can lead to thrombotic occlusions and brain infarction. The majority of the thrombotic occlusions are associated with atherosclerosis. cerebral thrombosis intracranial thrombosis MONDO:0002908 A metabolic disorder characterized by abnormal blood glucose levels. disorder of glucose metabolism glucose metabolism disorder glucose metabolism disease MONDO:0002909 Abnormally high level of glucose in the blood. hyperglycemia MONDO:0002910 Disease involving the common peroneal nerve or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with paralysis of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the fibula is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31) peroneal neuropathy peroneal neuropathy MONDO:0002911 A neuroglial tumor that arises from the brain stem. brain stem glioma brain stem neuroglial neoplasm brain stem neuroglial tumor brainstem glioma brainstem malignant glioma brainstem neuroglial neoplasm brainstem neuroglial tumor diffuse brainstem glioma glioma of brain stem glioma of brainstem glioma of the brain stem glioma of the brainstem malignant glioma of brainstem brain stem glioma MONDO:0002912 A primary or metastatic malignant neoplasm that affects the brain stem. malignant brain stem neoplasm malignant brain stem tumor malignant brainstem neoplasm malignant brainstem tumor neoplasm of adult brain stem neoplasm of brain stem primary brain stem neoplasm primary brain stem tumor tumor of the brainstem brainstem cancer cancer of brainstem malignant neoplasm of brain stem malignant neoplasm of brainstem malignant neoplasm of the brain stem malignant neoplasm of the brainstem malignant tumor of brain stem malignant tumor of brainstem malignant tumor of the brain stem malignant tumor of the brainstem brain stem cancer brainstem cancer https://rarediseases.info.nih.gov/diseases/8244/brain-stem-cancer MONDO:0002913 A benign or malignant (primary or metastatic) tumor involving the cerebellum. -- 2003 cerebellar neoplasm cerebellar tumor cerebellum neoplasm cerebellum neoplasm (disease) cerebellum tumor neoplasm of cerebellum neoplasm of the cerebellum tumor of cerebellum tumor of the cerebellum malignant tumor of cerebellum cerebellum cancer cerebellar neoplasm MONDO:0002914 A neoplasm that affects the brain stem and occurs during childhood. brain stem neoplasm brainstem cancer of childhood childhood brain stem neoplasm childhood brain stem tumor childhood brainstem cancer childhood brainstem neoplasm childhood brainstem tumor childhood neoplasm of brain stem childhood neoplasm of brainstem childhood neoplasm of the brain stem childhood neoplasm of the brainstem childhood tumor of brain stem childhood tumor of brainstem childhood tumor of the brain stem childhood tumor of the brainstem pediatric brain stem neoplasm pediatric brain stem tumor pediatric brainstem cancer pediatric brainstem neoplasm pediatric brainstem tumor pediatric neoplasm of brain stem pediatric neoplasm of brainstem pediatric neoplasm of the brain stem pediatric neoplasm of the brainstem pediatric tumor of brain stem pediatric tumor of brainstem pediatric tumor of the brain stem pediatric tumor of the brainstem childhood brain stem neoplasm MONDO:0002915 A neoplasm that affects the infratentorial region of the brain and occurs during childhood. childhood infratentorial neoplasm childhood infratentorial neoplasms childhood infratentorial tumor childhood infratentorial tumors infratentorial neoplasm of childhood pediatric infratentorial neoplasm pediatric infratentorial tumor childhood infratentorial neoplasm MONDO:0002916 A morphologic variant of meningioma arising from the brain stem. It is characterized by the presence of clear glycogen-rich polygonal cells. brain stem intraparenchymal clear cell meningioma intraparenchymal clear cell meningioma of brainstem intraparenchymal clear cell meningioma of the brainstem brainstem intraparenchymal clear cell meningioma MONDO:0002917 A disease that involves the pilosebaceous unit. disease of pilosebaceous unit disease or disorder of pilosebaceous unit disorder of pilosebaceous unit hair and hair follicle diseases hair disorder hair/hair follicle diseases pilosebaceous unit disease pilosebaceous unit disease or disorder hair disease disorder of pilosebaceous unit MONDO:0002918 A WHO grade II morphologic variant of meningioma characterized by the presence of clear glycogen-rich polygonal cells. clear cell meningioma clear cell meningioma (morphologic abnormality) CCM clear cell meningioma MONDO:0002919 A meningioma that affects the posterior cranial fossa. meningioma (disease) of posterior cranial fossa meningioma of posterior cranial fossa meningioma of the posterior cranial fossa posterior cranial fossa meningioma (disease) posterior cranial fossa meningioma MONDO:0002920 A malignant neoplasm that arises from the ovary and is characterized by the presence of an invasive malignant transitional cell component and nests of benign transitional cells in a fibrotic stroma. When the neoplasm is confined to the ovary, the prognosis is good. malignant Brenner tumor of ovary malignant Brenner tumor of the ovary malignant ovarian Brenner tumor ovarian Brenner tumor, malignant malignant ovarian Brenner tumor MONDO:0002921 A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills. https://github.com/monarch-initiative/mondo/issues/5656 centronuclear myopathy congenital structural myopathy MONDO:0002922 Any skin disease that is pyegenic. pyoderma MONDO:0002923 A uterine corpus sarcoma originating from the endometrial stroma. It is further subdivided into low grade and high grade endometrial stromal sarcoma. body of uterus endometrial stromal sarcoma body of uterus endometrioid stromal sarcoma endometrioid stromal sarcoma of body of uterus uterine corpus endometrial stromal sarcoma uterine corpus endometrial stromal tumor uterine corpus ess uterine corpus endometrial stromal sarcoma MONDO:0002924 A malignant neoplasm arising from smooth muscle. cancer of smooth muscle cancer of the smooth muscle malignant neoplasm of smooth muscle malignant neoplasm of the smooth muscle malignant smooth muscle neoplasm malignant smooth muscle tumor malignant tumor of smooth muscle malignant tumor of the smooth muscle smooth muscle cancer smooth muscle cancer MONDO:0002926 A rare malignant neoplasm with melanocytic differentiation characterized by the presence of polygonal or spindle shaped clear cells. This sarcoma usually affects the tendons and aponeuroses and is associated with a poor prognosis due to recurrences and metastases. adult soft part clear cell sarcoma chordoid sarcoma clear cell sarcoma (morphologic abnormality) clear cell sarcoma - not kidney clear cell sarcoma of soft parts clear cell sarcoma of soft tissue clear cell sarcoma/malignant melanoma of soft parts (excluding clear cell sarcoma of the kidney) malignant melanoma of soft tissues malignant melanoma of the soft parts melanoma, malignant, of soft parts malignant melanoma of soft parts clear cell sarcoma MONDO:0002927 A malignant mesenchymal neoplasm composed of spindle-shaped cells. This is a morphologic term which can be applied to a wide range of sarcomas. spindle cell sarcoma spindle cell sarcoma MONDO:0002928 A malignant tumor composed of a mixture of carcinomatous and sarcomatous elements. MMMT carcinosarcoma carcinosarcoma, malignant malignant mixed Mullerian tumor malignant mixed mesodermal (mullerian) tumor mesodermal mixed tumor mesodermal mixed tumor (morphologic abnormality) mixed mesodermal (mullerian) tumor mullerian mixed tumor mullerian mixed tumor (morphologic abnormality) mixed Mullerian tumor mixed tumor, Mullerian carcinosarcoma MONDO:0002929 primary atelectasis of newborn primary atelectasis, in perinatal period pulmonary immaturity MONDO:0002930 A sarcoma involving a kidney. kidney sarcoma renal sarcoma sarcoma of kidney sarcoma of the kidney kidney sarcoma MONDO:0002931 conjunctivochalasis MONDO:0002933 Abnormally high bone density. osteosclerosis MONDO:0002934 A morphologic variant of angioleiomyoma characterized by the adherence of neoplastic smooth muscle cells to the walls of vascular channels. intravascular angioleiomyoma intravascular angiomyoma intravascular angioleiomyoma MONDO:0002935 A basal cell carcinoma of the penis with an indolent clinical course. It is usually superficial and arises from the shaft and rarely the glans. basal cell carcinoma of the penis penile basal cell cancer penile basal cell carcinoma penis skin basal cell carcinoma skin basal cell carcinoma of penis skin of penis skin basal cell carcinoma penis basal cell carcinoma MONDO:0002936 A scrotal carcinoma that involves the basal cell. basal cell carcinoma of scrotum basal cell scrotal carcinoma scrotal basal cell carcinoma scrotum skin basal cell carcinoma skin basal cell carcinoma of scrotum basal cell carcinoma of the scrotum scrotum basal cell carcinoma MONDO:0002937 A basal cell carcinoma of the skin that often appears as elevated nodules which may become ulcerated. Nodulo-ulcerative basal cell carcinoma Rodent Ulcer basal cell carcinoma, nodular basal cell carcinoma, nodular (morphologic abnormality) circumscribed solid basal cell carcinoma skin nodulo-ulcerative basal cell carcinoma skin solid (nodular) basal cell carcinoma nodular basal cell carcinoma MONDO:0002938 A skin carcinoma displaying cytological characteristics intermediate to nodular basal cell carcinoma and squamous cell carcinoma. basosquamous carcinoma of skin skin metatypical basal cell carcinoma skin metatypical carcinoma metatypical basal cell carcinoma MONDO:0002939 A basal cell carcinoma that contains large amounts of melanin. The melanin is produced by symbiotic nontumoral proliferating melanocytes. - 2002. pigmented basal cell carcinoma skin pigmented basal cell carcinoma skin pigmented basal cell carcinoma MONDO:0002940 A basal cell carcinoma arising from the perianal skin. Local excision is the treatment of choice. Metastases are extremely rare. anal margin basal cell carcinoma basal cell carcinoma of anal margin basal cell carcinoma of perianal skin basal cell carcinoma of the anal margin basal cell carcinoma of the perianal skin perianal skin basal cell carcinoma perianal skin skin basal cell carcinoma skin basal cell carcinoma of perianal skin anal margin basal cell carcinoma MONDO:0002941 A carcinoma that arises from epithelial cells of the perianal skin anal margin cancer anal margin carcinoma carcinoma of anal margin carcinoma of perianal skin carcinoma of the anal margin perianal skin carcinoma anal margin carcinoma MONDO:0002942 skin basosebaceous basal cell carcinoma sebaceous basal cell carcinoma MONDO:0002943 A basal cell carcinoma that arises from the skin of the external ear. basal cell carcinoma of external Ear basal cell carcinoma of the external Ear basal cell carcinoma of the external ear basal cell external ear carcinoma external Ear basal cell carcinoma external ear skin basal cell carcinoma skin basal cell carcinoma of external ear basal cell carcinoma of external ear external ear basal cell carcinoma MONDO:0002944 A carcinoma that arises from epithelial cells of the external ear carcinoma of external Ear carcinoma of external ear carcinoma of the external Ear carcinoma of the external ear external Ear carcinoma external ear carcinoma external ear carcinoma MONDO:0002945 A basal cell carcinoma of the skin characterized by the presence of small nodules that permeate the dermis. It presents as an elevated or flat infiltrating tumor, usually in the back. skin micronodular basal cell carcinoma micronodular basal cell carcinoma MONDO:0002946 A congenital or acquired occlusion of an opening in any part of the female genital tract. gynatresia MONDO:0002947 adamantinoid basal cell carcinoma basal cell carcinoma - adamantinoid melanotic adamantinoma of skin skin adamantinoid basal cell carcinoma skin adamantinoid basal cell epithelioma adamantinoid basal cell epithelioma MONDO:0002948 A variant of basal cell carcinoma presenting as an elevated or erythematous nodular lesion usually in the back. Morphologically, it is characterized by the presence of cords of basaloid cells extending from the epidermis into the dermis, creating a fenestrating pattern. It follows an indolent course. Pinkus tumor fibroepithelioma of Pinkus fibroepithelioma of Pinkus type fibroepithelial basal cell carcinoma skin fibroepithelial basal cell carcinoma MONDO:0002949 A histologic variant of basal cell carcinoma of the skin characterized by the presence of strands and nests of malignant cells that are embedded in a dense fibrotic stroma. basal cell carcinoma sclerosing type basal cell carcinoma, morphea cicatricial basal-cell carcinoma morphea-type (sclerosing) basal cell carcinoma morphea-type basal cell carcinoma morpheaform basal cell carcinoma sclerosing type basal cell carcinoma skin morphea-type (sclerosing) basal cell carcinoma morpheaform basal cell carcinoma MONDO:0002950 A morphologic variant of basal cell carcinoma characterized by the presence of clear cells. clear cell basal cell carcinoma skin clear cell basal cell carcinoma skin clear cell basal cell carcinoma MONDO:0002951 A variant of basal cell carcinoma morphologically characterized by the presence of thin strands of basaloid cells forming a reticulate pattern. adenoid basal cell carcinoma skin adenoid basal cell carcinoma Editor note: adenoid refers to histological subtype, not tonsils skin adenoid basal cell carcinoma MONDO:0002952 follicular (pilar) basal cell carcinoma skin follicular basal cell carcinoma follicular basal cell carcinoma MONDO:0002953 A variant of basal cell carcinoma presenting as a pale, indurated plaque, usually in the upper trunk or face. Morphologically, it is characterized by the presence of strands, cords, and columns of basaloid cells infiltrating the dermis. Perineural invasion may be present and the basaloid cell infiltrate may extend into deeper tissues. infiltrating basal cell carcinoma skin infiltrating basal cell carcinoma infiltrative basal cell carcinoma skin infiltrative basal cell carcinoma MONDO:0002954 A superficial basal cell carcinoma of the skin characterized by the presence of lobules of basaloid cells which are separated by large distances and represent multifocal discrete tumors. multicentric basal cell carcinoma multifocal superficial basal cell carcinoma multifocal superficial basal cell carcinoma (morphologic abnormality) superficial multicentric basal-cell carcinoma superficial multifocal basal cell carcinoma superficial basal cell carcinoma superficial multifocal basal cell carcinoma MONDO:0002955 A slow growing, locally infiltrating carcinoma that arises from the vulva. It is characterized by the presence of malignant cells that resemble the basal cells that are present in the epidermis. basal cell carcinoma of the vulva basal cell carcinoma of vulva mammalian vulva skin basal cell carcinoma skin basal cell carcinoma of mammalian vulva vulvar basal cell cancer vulvar basal cell carcinoma vulva basal cell carcinoma MONDO:0002956 cystic basal cell carcinoma skin cystic basal cell carcinoma skin cystic basal cell carcinoma MONDO:0002957 skin sarcomatoid basal cell carcinoma sarcomatoid basal cell carcinoma MONDO:0002958 signet Ring cell basal cell carcinoma skin signet Ring cell basal cell carcinoma skin signet ring cell basal cell carcinoma signet ring basal cell carcinoma MONDO:0002959 Disease involving a spinal nerve root (see spinal nerve roots) which may result from compression related to intervertebral disk displacement; spinal cord injuries; spinal diseases; and other conditions. Clinical manifestations include radicular pain, weakness, and sensory loss referable to structures innervated by the involved nerve root. nerve root disorder Editor note: DO classifies under polyradiculopathy, which we invert radiculopathy MONDO:0002960 A radiculopathy that is present in more than one nerve. polyradiculopathy MONDO:0002961 large cell acanthoma MONDO:0002962 A benign epithelial verrucous lesion of the skin. Morphologically, it is characterized by the presence of epidermolytic hyperkeratosis and papillomatosis. epidermolytic acanthoma MONDO:0002963 A benign epithelial neoplasm of the skin. It presents as a papular or nodular lesion. Morphologically, it is characterized by the presence of hyperkeratosis, acanthosis, papillomatosis, and prominent acantholysis. acantholytic acanthoma acantholytic acanthoma MONDO:0002965 A cyst (cysts) near the ovary, derived from anomalies of the fallopian tubes or the broad ligament. The paramesonephric type consists of ciliated cells similar to the oviduct epithelium. The mesonephric type consisted of an epithelium with minimally surface structures. They can be found on the thin oviduct (paratubal cysts) or near its fimbriated end (hydatid of Morgagni). cyst, fimbrial embryonic fimbrial cyst parovarian cyst Morgagni Hydatids Morgagni hydatid Morgagni hydatid cyst Morgagni hydatid cysts Paratubal cyst Paratubal cysts cyst, Paratubal cyst, parovarian cysts, Paratubal cysts, parovarian fimbrial cyst hydatid cyst of Morgagni hydatid of Morgagni parovarian cysts parovarian cyst MONDO:0002966 A prolymphocytic leukemia that involves the spleen. prolymphocytic leukemia of spleen spleen prolymphocytic leukemia splenic manifestation of prolymphocytic leukemia splenic manifestation of prolymphocytic leukemia MONDO:0002967 Dermatophytosis involving the stratum corneum of the skin of the scalp and beard area. Trichophyton rubrum tinea capitis dermatophytosis of scalp and beard scalp dermatophytosis scalp ringworm tinea capitis due to Trichophyton rubrum dermatophytosis of scalp tinea capitis dermatophytosis of scalp or beard MONDO:0002968 A cystic lesion containing lymph. It usually results from injury, gynecologic surgery, or urologic surgery. lymph cyst lymphocele MONDO:0002969 A malignant neoplasm involving the ciliary body. tumor of the ciliary body cancer of ciliary body ciliary body cancer malignant ciliary body neoplasm malignant ciliary body tumor malignant neoplasm of ciliary body malignant neoplasm of the ciliary body malignant tumor of ciliary body malignant tumor of the ciliary body ciliary body cancer MONDO:0002970 A disease involving the ciliary body. ciliary body disease ciliary body disease or disorder ciliary body disorder disease of ciliary body disease or disorder of ciliary body disorder of ciliary body ciliary body disorder MONDO:0002971 A melanoma characterized by the complete absence of melanin pigment in the melanoma cells. It occurs more frequently on the face and it is often associated with desmoplastic reaction. amelanotic melanoma amelanotic melanoma (morphologic abnormality) melanoma, amelanotic, malignant amelanotic melanomas melanomas, amelanotic amelanotic melanoma MONDO:0002972 A malignant neoplasm involving the posterior mediastinum. cancer of posterior mediastinum malignant neoplasm of posterior mediastinum malignant posterior mediastinum neoplasm posterior mediastinum cancer posterior mediastinum cancer MONDO:0002973 A melanoma characterized by the presence of malignant large epithelioid melanocytes. epithelioid cell malignant melanoma epithelioid cell melanoma epithelioid cell melanoma (morphologic abnormality) epithelioid melanoma epithelioid cell melanoma MONDO:0002974 A primary or metastatic malignant neoplasm involving the cervix. https://github.com/monarch-initiative/mondo/issues/4521 cervical neoplasm tumor of the cervix uteri uterine cervical neoplasm cancer of uterine cervix cervical cancer, somatic cervix cancer cervix uteri cancer malignant cervical neoplasm malignant cervical tumor malignant cervix neoplasm malignant cervix tumor malignant cervix uteri neoplasm malignant cervix uteri tumor malignant neoplasm of cervix malignant neoplasm of cervix uteri malignant neoplasm of the cervix malignant neoplasm of the cervix uteri malignant neoplasm of the uterine cervix malignant neoplasm of uterine cervix malignant tumor of cervix malignant tumor of cervix uteri malignant tumor of the cervix malignant tumor of the cervix uteri malignant tumor of the uterine cervix malignant tumor of uterine cervix malignant uterine cervix neoplasm malignant uterine cervix tumor uterine cervix cancer cervical cancer MONDO:0002975 A melanoma that arises usually from the breast skin and less often from the breast glandular tissue. Primary breast melanomas are rare. breast melanoma breast melanoma (disease) malignant breast melanoma malignant melanoma of breast malignant melanoma of the breast melanoma (disease) of breast malignant breast melanoma MONDO:0002976 A pathological condition characterized by the presence of a number of gastric diverticula in the stomach. stomach diverticulosis MONDO:0002977 A disorder characterized by the degeneration of the nervous system due to autoimmunity. Representative examples include multiple sclerosis, Guillain-Barre syndrome, and myasthenia gravis. autoimmune disease of nervous system autoimmune disease, neurologic autoimmune diseases, nervous system autoimmune diseases, neurologic autoimmune disorders of the nervous system autoimmune disorders, nervous system autoimmune nervous system diseases autoimmune nervous system disorder disease, neurologic autoimmune diseases, neurologic autoimmune immune diseases, nervous system immune disorders, nervous system nervous system autoimmune disease nervous system autoimmune diseases nervous system hypersensitivity reaction type II disease nervous system immune diseases nervous system immune disorders neurologic autoimmune disease neurologic autoimmune diseases autoimmune disorder of the nervous system MONDO:0002978 A malignant mesenchymal neoplasm that arises in the orbit. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma. alveolar rhabdomyosarcoma of orbit alveolar rhabdomyosarcoma of the orbit orbit alveolar rhabdomyosarcoma MONDO:0002979 A well differentiated squamous cell carcinoma characterized by a papillary, exophytic growth pattern and hyperkeratosis. The most commonly affected anatomic sites are the larynx, penis, cervix, vagina, and vulva. papillary epidermoid carcinoma papillary epidermoid cell carcinoma papillary squamous carcinoma papillary squamous cell carcinoma papillary squamous carcinoma MONDO:0002981 A small round cell tumor with neural differentiation arising from the bone. It may be associated with pain. bone peripheral neuroepithelioma bone tissue peripheral primitive neuroectodermal tumor osseous peripheral neuroepithelioma peripheral neuroectodermal tumor of bone peripheral neuroectodermal tumor of the bone peripheral neuroepithelioma of bone peripheral neuroepithelioma of the bone peripheral primitive neuroectodermal tumor of bone peripheral primitive neuroectodermal tumor of bone tissue peripheral primitive neuroectodermal tumor of bone MONDO:0002982 A small round cell tumor with neural differentiation arising from the soft tissues. peripheral neuroectodermal tumor of soft tissues peripheral neuroectodermal tumor of the soft tissues peripheral neuroepithelioma of soft tissues peripheral neuroepithelioma of the soft tissues peripheral primitive neuroectodermal tumor of soft tissues soft tissue peripheral neuroepithelioma peripheral primitive neuroectodermal tumor of soft tissues MONDO:0002984 A rare cutaneous lesion composed of eosinophilic histiocytes, which are often multinucleated. The lesions are yellow-brown papules affecting any part of the body. Patients are usually adult men. The prognosis is excellent. -- 2003 Reticulohistiocytoma reticulohistiocytic granuloma (morphologic abnormality) solitary Reticulohistiocytoma solitary reticulohistiocytoma solitary histiocytoma solitary reticulohistiocytosis reticulohistiocytic granuloma MONDO:0002987 A chronic inflammatory skin condition characterized by itchiness and a rash in the chest and abdominal areas. It affects males more than females and is usually contracted at a relatively young age. It is thought to be caused by an allergic reaction to food, insect bites, or medication. spongiotic dermatitis MONDO:0002988 An aggressive malignant tumor of melanocytic origin that arises from the cervix. cervical melanoma melanoma of the cervix primary malignant melanoma of the cervix uteri primary malignant melanoma of the uterine cervix cervix melanoma MONDO:0002989 A benign neoplasm composed of fibroblastic spindle cells in a whorled storiform pattern. It is characterized by the presence of foam cells, inflammatory cells, hemosiderin deposition and stromal hemorrhage. benign fibrous histiocytoma benign fibrous histiocytoma (morphologic abnormality) fibrous histiocytoma fibrous histiocytoma NOS (morphologic abnormality) fibroxanthoma fibroxanthoma NOS (morphologic abnormality) histiocytoma, fibrous, benign benign fibrous histiocytoma MONDO:0002990 A rare, well-circumscribed, pseudo-encapsulated benign fibrous histiocytoma that arises entirely within the subcutaneous tissue or deep soft tissue. It usually affects the extremities or the head and neck region. It recurs locally in a minority of cases. benign deep fibrous histiocytoma deep benign fibrous histiocytoma benign deep fibrous histiocytoma MONDO:0002991 A carcinoma arising from the ovary. It is characterized by the presence of malignant epithelial cells in a fibrotic stroma. Histologic variants include clear cell, serous, mucinous, and endometrioid adenocarcinofibroma. adenocarcinofibroma adenofibroma, malignant malignant adenofibroma adenocarcinofibroma MONDO:0002993 A neuroendocrine tumor arising from the delta cells of the pancreas. It is characterized by inappropriate secretion of somatostatin and associated with diabetes mellitus, hypochlorhydria, gallbladder disease, diarrhea, steatorrhea, anemia, and weight loss. pancreatic delta cell somatostatin producing neoplasm pancreatic somatostatin cell tumor pancreatic somatostatinoma MONDO:0002994 A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. It may be associated with inappropriate secretion of somatostatin and an associated clinical syndrome, or it may be hormonally inactive (non-functioning). pancreatic Delta cell NET pancreatic Delta cell neoplasm pancreatic Delta cell neuroendocrine tumor pancreatic Delta cell tumor pancreatic delta cell neoplasm pancreatic delta cell neuroendocrine tumor MONDO:0002995 A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the small intestine. small intestinal NET small intestinal neuroendocrine tumor small intestinal well differentiated endocrine tumor small intestine neuroendocrine tumor small intestinal well differentiated endocrine tumor/carcinoma carcinoid tumor of small intestine small intestine neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0002996 A meningioma that affects the cavernous sinus. cavernous sinus meningioma (disease) meningioma (disease) of cavernous sinus meningioma of cavernous sinus meningioma of the cavernous sinus cavernous sinus meningioma MONDO:0002997 A meningioma that affects the anterior cranial fossa. anterior cranial fossa meningioma (disease) anterior fossa meningioma meningioma (disease) of anterior cranial fossa meningioma of anterior cranial fossa meningioma of anterior fossa meningioma of the anterior cranial fossa meningioma of the anterior fossa anterior cranial fossa meningioma MONDO:0002998 A meningioma that arises from the skull base. basicranium meningioma (disease) meningioma (disease) of basicranium meningioma of the skull base skull base meningioma meningioma of skull base skull base meningioma MONDO:0002999 A malignant germ cell tumor arising from the central nervous system. It is composed of uniform cells resembling primitive germ cells. These cells have large, vesicular nuclei, prominent nucleoli and a clear, glycogen-rich cytoplasm. Additional features are lymphoid or lymphoplasmacytic infiltrates and, less frequently, scattered syncytiotrophoblastic giant cells. (Adapted from WHO) central nervous system germinoma central nervous system germinoma (disease) germinoma of CNS germinoma of central nervous system germinoma of the CNS germinoma of the central nervous system intracranial germinoma central nervous system germinoma MONDO:0003000 A unique group of rare tumors of the central nervous system that affect mainly children and adolescents. Their morphologic and biologic profile corresponds to that of homologous germ cell tumors that arise in the gonads and in other extragonadal sites. Representative examples include: germinoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, and teratoma. CNS germ cell neoplasm CNS germ cell tumor central nervous system germ cell neoplasm central nervous system germ cell tumor central nervous system rare germ cell tumor germ cell neoplasm of CNS germ cell neoplasm of central nervous system germ cell neoplasm of the CNS germ cell neoplasm of the central nervous system germ cell tumor of CNS germ cell tumor of central nervous system germ cell tumor of the CNS germ cell tumor of the central nervous system central nervous system germ cell tumor MONDO:0003001 A radiosensitive malignant germ cell tumor found in the testis (especially undescended), and extragonadal sites (anterior mediastinum and pineal gland). It is characterized by the presence of uniform cells with clear or dense cytoplasm which contains glycogen, and by a large nucleus which contains one or more nucleoli. The neoplastic germ cells form aggregates separated by fibrous septa. The fibrous septa contain chronic inflammatory cells, mainly lymphocytes. seminoma seminoma, malignant seminoma, pure seminoma MONDO:0003002 A malignant germ cell tumor characterized by the presence of a monotonous primitive germ cell population. The neoplastic cells form aggregates and have an abundant pale cytoplasm and uniform nuclei. The aggregates of the germ cells are separated by fibrous septa which contain inflammatory cells, mostly T-lymphocytes. It arises primarily in the ovaries, but can occur both primarily and secondarily at other sites, particularly the central nervous system. It responds to chemotherapy and radiotherapy. Its prognosis is related to the tumor stage. dysgerminoma (disease) dysgerminoma dysgerminoma (disease) dysgerminoma, malignant dysgerminoma MONDO:0003003 An alveolar soft part sarcoma arising from the cervix. cervical alveolar soft part sarcoma MONDO:0003004 Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration. macula lutea retinal degeneration macula retinal degeneration macular degeneration of retina retinal degeneration of macula lutea macular degeneration MONDO:0003005 Accumulation of intraretinal fluid and protein in the macula, which may result in swelling and decreased central vision. macula lutea retinal edema macular edema retinal edema of macula lutea edema, macular macular retinal edema MONDO:0003007 A renal cell carcinoma that occurs during childhood. renal cell cancer childhood kidney cell carcinoma childhood renal cell carcinoma childhood renal cell carcinoma (disease) pediatric kidney cell carcinoma pediatric renal cell carcinoma pediatric renal cell carcinoma (disease) renal cell carcinoma (disease) of childhood childhood kidney cell carcinoma MONDO:0003008 An instance of renal cell carcinoma (disease) that is caused by an inherited modification of the individual's genome. hereditary renal cell cancer hereditary renal cell carcinoma hereditary renal cell carcinoma (disease) familial renal carcinoma hereditary renal carcinoma hereditary renal cell carcinoma https://rarediseases.info.nih.gov/diseases/9571/hereditary-renal-cell-carcinoma MONDO:0003009 Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia. primary hyperaldosteronism hyperaldosteronism MONDO:0003010 A rare type of renal cell carcinoma. It is a well-circumscribed multicystic mass without solid areas. The inner lining of the cystic structures is composed of clear cells. MCRCC cystadenocarcinoma of kidney multilocular clear cell adenocarcinoma multilocular clear cell carcinoma multilocular clear cell renal cell adenocarcinoma multilocular clear cell renal cell carcinoma multilocular cystic clear cell renal cell neoplasm of low malignant potential multilocular cystic renal cell adenocarcinoma multilocular cystic renal cell cancer multilocular cystic renal cell carcinoma renal cystadenocarcinoma multilocular cystic renal neoplasm of low malignant potential multilocular clear cell renal cell carcinoma MONDO:0003011 A low grade carcinoma of the kidney characterized by the presence of tubules which are separated by mucinous stroma. Often the tubular structures have a spindle cell appearance. Patients are usually asymptomatic and occasionally they may present with hematuria or flank pain. carcinoma, renal, tubular, malignant mucinous tubular and spindle cell carcinoma of the kidney mucinous tubular and spindle cell renal carcinoma renal mucinous tubular spindle cell carcinoma mucinous tubular and spindle renal cell carcinoma MONDO:0003012 A high grade carcinoma of the kidney. It is not a distinct clinicopathological entity and includes a diverse group of renal cell carcinomas which have been transformed from a lower to a higher grade. RCC w/ sarcomatoid features renal cell carcinoma with sarcomatoid features renal cell carcinoma, spindle cell sarcomatoid renal cell cancer sarcomatoid renal cell carcinoma SRCC sarcomatoid renal cell carcinoma MONDO:0003014 An inflammation of the mucous membrane lining the nose, usually associated with nasal discharge. inflammation of nasal cavity mucosa nasal cavity mucosa inflammation runny nose rhinitis MONDO:0003017 A malignant form of peritoneal solitary fibrous tumor. peritoneal solitary fibrous tumor, malignant pleural and peritoneal solitary fibrous tumor malignant peritoneal solitary fibrous tumor MONDO:0003019 Any disorder caused by an insufficient amount or availability of potassium, which generally manifests with myalgia, tetany, hypotension, polyuria, and polydipsia. hypokalemia hypopotassemia potassium deficiency disorder Editor note: NCIT hypokalemia is a finding. We use potassium deficiency disorder for equivalence but this is listed as nutritional in NCIT potassium deficiency disease MONDO:0003021 A malignant vascular neoplasm arising from the brain, spinal cord or meninges. CNS angiosarcoma CNS hemangiosarcoma angiosarcoma (disease) of central nervous system angiosarcoma of CNS angiosarcoma of central nervous system angiosarcoma of the CNS angiosarcoma of the central nervous system central nervous system angiosarcoma central nervous system angiosarcoma (disease) central nervous system hemangiosarcoma hemangiosarcoma of CNS hemangiosarcoma of central nervous system hemangiosarcoma of the CNS hemangiosarcoma of the central nervous system central nervous system angiosarcoma MONDO:0003022 An angiosarcoma occurring in childhood. angiosarcoma angiosarcoma (disease) of childhood childhood angiosarcoma childhood angiosarcoma (disease) childhood hemangiosarcoma pediatric angiosarcoma pediatric angiosarcoma (disease) pediatric hemangiosarcoma pediatric angiosarcoma MONDO:0003023 A malignant vascular neoplasm arising from the aorta. angiosarcoma (disease) of aorta angiosarcoma of aorta angiosarcoma of the aorta aorta angiosarcoma (disease) aortic angiosarcoma aortic hemangiosarcoma hemangiosarcoma of aorta hemangiosarcoma of the aorta aorta angiosarcoma MONDO:0003024 A malignant vascular neoplasm arising from the breast. angiosarcoma (disease) of breast angiosarcoma of breast angiosarcoma of the breast breast angiosarcoma breast angiosarcoma (disease) breast hemangiosarcoma hemangiosarcoma of breast hemangiosarcoma of the breast BA breast angiosarcoma https://rarediseases.info.nih.gov/diseases/9974/angiosarcoma-of-the-breast MONDO:0003025 An angiosarcoma characterized by the presence of malignant spindle endothelial cells. conventional angiosarcoma conventional angiosarcoma MONDO:0003026 An angiosarcoma that is located in the gallbladder. angiosarcoma (disease) of gall bladder angiosarcoma of gallbladder angiosarcoma of the gallbladder gall bladder angiosarcoma (disease) gallbladder angiosarcoma gallbladder hemangiosarcoma hemangiosarcoma of gallbladder hemangiosarcoma of the gallbladder gallbladder angiosarcoma MONDO:0003027 A usually aggressive malignant vascular tumor primarily involving the thyroid gland. It is often associated with longstanding nodular goiter. angiosarcoma (disease) of thyroid gland angiosarcoma of the thyroid angiosarcoma of the thyroid gland angiosarcoma of thyroid angiosarcoma of thyroid gland hemangiosarcoma of the thyroid hemangiosarcoma of the thyroid gland hemangiosarcoma of thyroid hemangiosarcoma of thyroid gland thyroid angiosarcoma thyroid gland angiosarcoma thyroid gland angiosarcoma (disease) thyroid gland hemangiosarcoma thyroid gland malignant hemangioendothelioma thyroid hemangiosarcoma thyroid gland angiosarcoma MONDO:0003028 A malignant soft tissue neoplasm primarily involving the thyroid gland. sarcoma of the thyroid sarcoma of the thyroid gland sarcoma of thyroid sarcoma of thyroid gland thyroid gland sarcoma thyroid sarcoma thyroid sarcoma MONDO:0003029 A malignant vascular neoplasm arising from the skin. angiosarcoma (disease) of zone of skin angiosarcoma of skin angiosarcoma of the skin hemangiosarcoma of skin hemangiosarcoma of the skin skin angiosarcoma skin hemangiosarcoma zone of skin angiosarcoma (disease) skin angiosarcoma MONDO:0003030 A rare sarcoma that arises from the cervix. This category includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma. endometrial stromal sarcoma of the cervix endometrioid stromal sarcoma of the cervix endometrioid stromal sarcoma of uterine cervix uterine cervix endometrioid stromal sarcoma cervical endometrial stromal sarcoma endometrioid stromal sarcoma of the cervix MONDO:0003031 A category of rare neoplasms that arise from the cervix. It includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma. endometrioid stromal and related neoplasms of the cervix endometrioid stromal and related tumors of the cervix cervix endometrial stromal tumor endometrioid stromal and related neoplasms of the cervix MONDO:0003032 A malignant vascular neoplasm arising from the superior vena cava. angiosarcoma (disease) of anterior vena cava angiosarcoma of Superior vena cava angiosarcoma of the Superior vena cava anterior vena cava angiosarcoma (disease) superior vena cava angiosarcoma MONDO:0003033 A malignant vascular neoplasm arising from the prostate. angiosarcoma (disease) of prostate gland angiosarcoma of prostate angiosarcoma of the prostate hemangiosarcoma of prostate hemangiosarcoma of the prostate prostate angiosarcoma prostate gland angiosarcoma (disease) prostate hemangiosarcoma prostatic angiosarcoma prostatic hemangiosarcoma prostate angiosarcoma MONDO:0003034 A malignant vascular neoplasm arising from the mediastinum. angiosarcoma (disease) of mediastinum angiosarcoma of mediastinum angiosarcoma of the mediastinum hemangiosarcoma of mediastinum hemangiosarcoma of the mediastinum mediastinal angiosarcoma mediastinal hemangiosarcoma mediastinum angiosarcoma (disease) mediastinum angiosarcoma MONDO:0003035 A malignant vascular neoplasm arising from the ovary. angiosarcoma (disease) of ovary angiosarcoma of ovary angiosarcoma of the ovary hemangiosarcoma of ovary hemangiosarcoma of the ovary ovarian hemangiosarcoma ovary angiosarcoma (disease) ovarian angiosarcoma MONDO:0003036 A carcinoma morphologically characterized the presence of cuboidal mucous cells, goblet-like mucous cells, squamoid cells, cystic changes, and a fibrotic stromal formation. It can occur in several anatomic sites, including parotid gland, oral cavity, paranasal sinus, skin, breast, lung, larynx, and lacrimal ducts. It is classified as low or high grade. MEC mucoepidermoid carcinoma mucoepidermoid carcinoma (morphologic abnormality) mucoepidermoid tumor MUCC mucoepidermoid tumors tumor, mucoepidermoid tumors, mucoepidermoid Editor notes: classified as a salivary gland carcinoma in DO but not correct as there are other subtypes mucoepidermoid carcinoma https://rarediseases.info.nih.gov/diseases/10671/mucoepidermoid-carcinoma MONDO:0003037 A congenital condition, usually due to genetic aberrations, that is characterized by a lack of hair growth on the head and/or body. hypotrichosis MONDO:0003038 Loss or impairment of the ability to write (letters, syllables, words, or phrases) due to an injury to a specific cerebral area or occasionally due to emotional factors. This condition rarely occurs in isolation, and often accompanies aphasia. (From Adams et al., Principles of Neurology, 6th ed, p485; apa, Thesaurus of Psychological Index Terms, 1994) dysgraphia (disease) dysgraphia dysgraphia (disease) dysgraphia MONDO:0003039 Impaired ability to retrieve words; in particular, an inability to recall the names of objects and people. anomia anomic aphasia anomic aphasia (finding) nominal aphasia MONDO:0003040 The loss of access to memories that were previously encoded; this disorder is most commonly preceded by trauma, including physical brain injury, stroke, or seizure, but may also be psychogenic in origin. Memory loss may be temporary or permanent, but the ability to encode new memories or skills is not generally affected. retrograde amnesia MONDO:0003041 A mesenchymal chondrosarcoma occurring in children. mesenchymal chondrosarcoma childhood mesenchymal chondrosarcoma mesenchymal chondrosarcoma of childhood pediatric mesenchymal chondrosarcoma pediatric mesenchymal chondrosarcoma MONDO:0003042 A mesenchymal chondrosarcoma occurring in adults. adult mesenchymal chondrosarcoma mesenchymal chondrosarcoma of adults adult mesenchymal chondrosarcoma MONDO:0003045 Tumors or cancer of the anal gland. gland of anal canal neoplasm gland of anal canal neoplasm (disease) gland of anal canal tumor neoplasm of gland of anal canal tumor of gland of anal canal anal gland neoplasm MONDO:0003046 A benign or malignant neoplasm that affects the anal canal or anal margin. Representative examples of benign neoplasms include squamous papilloma and papillary hidradenoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and melanoma. anal neoplasm anal neoplasms, benign and malignant anal tumor anal tumors anus neoplasm anus neoplasm (disease) anus tumor neoplasm of anus neoplasm of the anus tumor of anus tumor of the anus anus neoplasm MONDO:0003047 An aggressive, non-small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and, almost always, necrosis. Thymus large cell carcinoma large cell carcinoma of the Thymus large cell neuroendocrine carcinoma of Thymus large cell neuroendocrine carcinoma of the Thymus large cell neuroendocrine carcinoma of thymus thymic LCNEC thymic large cell neuroendocrine carcinoma thymus large cell carcinoma thymus large cell neuroendocrine carcinoma thymic large cell neuroendocrine carcinoma MONDO:0003049 A carcinoma that arises from the ovary and is characterized by the presence of large malignant cells exhibiting neuroendocrine differentiation. The prognosis is poor. large cell neuroendocrine carcinoma of ovary large cell neuroendocrine carcinoma of the ovary large-cell neuroendocrine carcinoma of ovary large-cell neuroendocrine carcinoma of the ovary non-small-cell type neuroendocrine carcinoma of ovary non-small-cell type neuroendocrine carcinoma of the ovary ovarian large cell NEC ovarian large cell neuroendocrine carcinoma ovarian non-small-cell type neuroendocrine carcinoma ovary large cell neuroendocrine carcinoma ovarian large-cell neuroendocrine carcinoma MONDO:0003050 A poorly differentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular or squamous differentiation. There is a male predilection. anaplastic lung carcinoma large cell carcinoma of lung large cell carcinoma of the lung large cell lung cancer large cell lung carcinoma large cell undifferentiated lung carcinoma lung large cell carcinoma LCLC lung large cell carcinoma MONDO:0003051 Chronic endometritis characterized by the presence of plasmacytic infiltrates in the endometrium. There are no granulomas present. non specific chronic endometritis non specific chronic endometritis MONDO:0003052 Chronic inflammation of the endometrium characterized by the presence of epithelioid granulomas. Causes include tuberculosis, fungal infections, parasitic infections, and sarcoidosis. granulomatous endometritis granulomatous endometritis MONDO:0003053 A meningioma that affects the choroid plexus. choroid meningioma (morphologic abnormality) choroid plexus meningioma choroid plexus meningioma (disease) meningioma (disease) of choroid plexus meningioma of the choroid plexus meningioma of choroid plexus choroid plexus meningioma MONDO:0003054 A grade I, slowly growing meningioma. Only a minority of tumors recur following complete resection. benign meningioma (WHO grade I) meningioma (disease), benign meningioma, benign benign meningioma MONDO:0003055 A WHO grade I meningioma characterized by the presence of epithelial differentiation and numerous intracellular PAS positive bodies that are rich in glycogen. secretory meningioma secretory meningioma (morphologic abnormality) secretory meningioma MONDO:0003056 A WHO grade I meningioma characterized by the presence of prominent chronic inflammatory infiltrates that predominate over the meningioma cells. lymphoplasmacyte-rich meningioma lymphoplasmocyte-rich meningioma lymphoplasmocyte-rich meningioma (morphologic abnormality) lymphoplasmacyte-rich meningioma MONDO:0003057 A meningioma that occurs during childhood. meningioma childhood meningioma childhood meningioma (disease) meningioma (disease) of childhood pediatric meningioma pediatric meningioma (disease) pediatric meningioma MONDO:0003058 A WHO grade I meningioma characterized by the presence of intercellular microcystic spaces that contain mucinous fluid. microcystic meningioma microcystic meningioma (morphologic abnormality) microcystic meningioma MONDO:0003059 A malignant neoplasm involving the bile duct bile duct tumor Ca extrahepatic bile ducts bile duct cancer cancer of bile duct malignant bile duct neoplasm malignant neoplasm of bile duct malignant neoplasm of the extrahepatic bile duct bile duct cancer MONDO:0003060 A malignant neoplasm involving the biliary tree biliary tree cancer cancer of biliary tree malignant biliary tree neoplasm malignant neoplasm of biliary tree malignant tumour of biliary tract biliary tract cancer https://rarediseases.info.nih.gov/diseases/5924/biliary-tract-cancer MONDO:0003061 A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue. muscle neoplasm myomatous tumor benign muscle neoplasm benign muscle tumor benign neoplasm of muscle benign neoplasm of the muscle benign tumor of muscle benign tumor of the muscle muscle tissue neoplasm myoma muscle benign neoplasm benign muscle neoplasm MONDO:0003062 A benign neoplasm that involves the intestine. benign intestinal neoplasm benign intestinal neoplasms benign intestinal tumor benign intestinal tumors benign intestine neoplasm benign intestine tumor benign neoplasm of intestines benign neoplasm of the intestines benign neoplasms of large and/or small intestine benign neoplasms of the large and/or small intestine benign tumor of intestines benign tumor of the intestines intestinal neoplasms, benign intestinal tumors, benign intestine benign neoplasm intestinal benign neoplasm MONDO:0003064 A benign papillary neoplasm composed of transitional cells and characterized by an endophytic growth pattern. inverted transitional cell papilloma inverted transitional papilloma transitional papilloma, inverted inverted transitional cell papilloma MONDO:0003065 A benign neoplasm that arises from the ciliated respiratory mucosa that lines the nasal cavity. It results from the invagination and proliferation of epithelial cells in the underlying stroma. Clinical manifestations include nasal obstruction, epistaxis, and anosmia. It has the tendency to recur and extend to adjacent structures. Inverted papillomas are occasionally associated with the development or presence of carcinomas, usually squamous cell carcinomas. inverting papilloma of nasal cavity inverting papilloma of the nasal cavity nasal cavity Schneiderian papilloma, inverted type nasal cavity inverted papilloma nasal cavity inverting papilloma MONDO:0003066 Inflammation of the submandibular lymph nodes. lymphadenitis (disease) of submandibular gland submandibular gland lymphadenitis (disease) submandibular lymphadenitis submandibular adenitis MONDO:0003067 Inflammation of the cervical lymph nodes. cervical adenitis lymphadenitis (disease) of neck neck lymphadenitis (disease) cervical lymphadenitis MONDO:0003068 Inflammation of the postauricular lymph nodes. lymphadenitis (disease) of mastoid lymph node mastoid lymph node lymphadenitis (disease) postauricular lymphadenitis MONDO:0003069 A form of lymphadenitis that is characterized by formation of pus; it is most often caused by staphylococcal or streptococcal bacteria. suppurative lymphadenopathy suppurative lymphadenitis MONDO:0003070 An infection of the lymph nodes in the axilla. axilla lymphadenitis (disease) axillary lymphadenitis lymphadenitis (disease) of axilla axillary adenitis axillary lymphadenitis MONDO:0003072 A malignant neoplasm involving the retina. retinal tumor cancer of retina malignant neoplasm of retina malignant neoplasm of the retina malignant retina neoplasm malignant retina tumor malignant retinal neoplasm malignant retinal tumor malignant tumor of retina malignant tumor of the retina retina cancer retinal cancer MONDO:0003073 Trilateral retinoblastoma refers to bilateral (or less often unilateral) retinoblastoma associated with an intracranial primitive neuroectodermal tumor in the pineal or suprasellar region. This syndrome is often associated with a increased familial incidence of retinoblastoma. (From Cancer 86(1): 135-141, 1999). trilateral retinoblastoma MONDO:0003075 Retinoblastoma involving both eyes. This occurs in the majority of patients with the inherited variant. A minority of patient with bilateral retinoblastoma were found to have involvement of the pineal gland as well. bilateral retinoblastoma MONDO:0003076 A retinoblastoma that only involves a single eye. unilateral retinoblastoma MONDO:0003077 Retinoblastoma restricted to local involvement. intraocular retinoblastoma intraocular retinoblastoma MONDO:0003078 Retinoblastoma that has spread beyond the eye e.g. to brain, soft tissue/bone, bone marrow. extraocular retinoblastoma metastatic retinoblastoma extraocular retinoblastoma MONDO:0003079 A localized tumor composed of sheets of mast cells without atypia. It includes the cutaneous mastocytoma which involves the dermis and subcutaneous tissue, and the extracutaneous mastocytoma. Most cases of extracutaneous mastocytoma have been reported in the lung. mastocytoma mastocytoma MONDO:0003081 A disorder of the thalamus. Causes include brain neoplasms, cerebrovascular disorders, brain trauma, brain hypoxia, infections, and brain hemorrhage. Signs and symptoms include movement and sensory abnormalities, visual abnormalities, ataxia, and coma. disease of dorsal plus ventral thalamus disease or disorder of dorsal plus ventral thalamus disorder of dorsal plus ventral thalamus dorsal plus ventral thalamus disease dorsal plus ventral thalamus disease or disorder thalamic disorder MONDO:0003082 filamentary keratitis MONDO:0003083 A rare slow growing benign tumor of aberrant and ectatic venous connections. Venous angioma Venous malformation venous hemangioma MONDO:0003084 Neuropathy resulting from uremia. uremic neuropathy MONDO:0003085 A corneal disease that is characterized by inflammation of the cornea. cornea inflammation inflammation of cornea keratitis MONDO:0003086 A rare primary thymic carcinoma, characterized by the presence of squamous cells, intermediate type cells, and mucus-producing cells. Published information on clinical course is limited to single-case reports. Thymus mucoepidermoid carcinoma mucoepidermoid carcinoma of Thymus mucoepidermoid carcinoma of the Thymus thymic mucoepidermoid carcinoma thymus mucoepidermoid carcinoma thymic mucoepidermoid carcinoma MONDO:0003087 A carcinoma of the breast characterized by pools of mucin and islands of malignant squamous cells. Mucoepidermoid carcinomas of the breast are extremely rare. breast mucoepidermoid carcinoma mucoepidermoid breast carcinoma mucoepidermoid carcinoma of breast mucoepidermoid carcinoma of the breast mucoepidermoid breast carcinoma MONDO:0003088 A hemangioma arising from skeletal muscle. intramuscular angioma intramuscular hemangioma (morphologic abnormality) intramuscular hemangioma MONDO:0003089 A mucoepidermoid carcinoma that arises from the extrahepatic bile ducts. bile duct mucoepidermoid carcinoma extrahepatic bile duct mucoepidermoid carcinoma mucoepidermoid carcinoma of bile duct mucoepidermoid carcinoma of the bile duct extrahepatic bile duct mucoepidermoid carcinoma MONDO:0003090 A carcinoma that arises from epithelial cells of the extrahepatic bile duct. carcinoma of extrahepatic bile duct carcinoma of the extrahepatic bile duct extrahepatic bile duct cancer extrahepatic bile duct carcinoma extrahepatic bile duct carcinoma MONDO:0003091 A mucoepidermoid carcinoma that involves the zone of skin. mucoepidermoid skin carcinoma zone of skin mucoepidermoid carcinoma cutaneous mucoepidermoid carcinoma MONDO:0003092 An extremely rare carcinoma that arises from the lacrimal gland. It is characterized by the presence of infiltrating nests of epidermoid cells and mucus producing cells. lacrimal gland mucoepidermoid carcinoma mucoepidermoid carcinoma of lacrimal gland mucoepidermoid carcinoma of the lacrimal gland lacrimal gland mucoepidermoid carcinoma MONDO:0003093 A rare carcinoma of the esophagus which contains squamous cells, mucus secreting cells, and cells of an intermediate type. (WHO) esophagus mucoepidermoid carcinoma mucoepidermoid carcinoma of the esophagus mucoepidermoid esophageal carcinoma MONDO:0003095 A rare mucoepidermoid carcinoma of the larynx. It usually arises from the supraglottic area. Hoarseness and dysphagia are the presenting symptoms. laryngeal mucoepidermoid carcinoma laryngeal throat mucoepidermoid cancer larynx mucoepidermoid carcinoma mucoepidermoid carcinoma of larynx mucoepidermoid carcinoma of the larynx laryngeal mucoepidermoid carcinoma MONDO:0003096 A hemangioma arising from the deep soft tissues. deep angioma deep hemangioma deep hemangioma MONDO:0003097 childhood mediastinal neurogenic neoplasm childhood mediastinal neurogenic tumor childhood neurogenic neoplasm of mediastinum childhood neurogenic neoplasm of the mediastinum childhood neurogenic tumor of mediastinum childhood neurogenic tumor of the mediastinum pediatric mediastinal neurogenic neoplasm pediatric mediastinal neurogenic tumor pediatric neurogenic neoplasm of mediastinum pediatric neurogenic neoplasm of the mediastinum pediatric neurogenic tumor of mediastinum pediatric neurogenic tumor of the mediastinum childhood mediastinal neurogenic neoplasm MONDO:0003098 A neurogenic tumor that arises from the mediastinum. Neural tumors are the most common tumors that arise from the posterior mediastinum. Representative examples include Schwannoma, neurofibroma, and neuroblastoma. mediastinal neural neoplasm mediastinal neural tumor mediastinal neurogenic neoplasm mediastinal neurogenic tumor neurogenic neoplasm of mediastinum neurogenic neoplasm of the mediastinum neurogenic tumor of mediastinum neurogenic tumor of the mediastinum malignant mediastinal neurogenic neoplasm mediastinal neural neoplasm MONDO:0003100 A neoplasm (disease) that involves the nerve plexus. neoplasm of nerve plexus neoplasm of the nerve plexus nerve plexus neoplasm nerve plexus neoplasm (disease) nerve plexus neoplasms nerve plexus tumor nerve plexus tumors neural plexus neoplasms neural plexus tumors tumor of nerve plexus tumor of the nerve plexus nerve plexus neoplasm MONDO:0003103 Benign and malignant neoplasms arising from one or more of the cervical, thoracic, lumbar, sacral, or coccygeal nerve roots. The majority of these tumors are benign. Clinical manifestations may include pain, weakness and loss of sensation along the course of the involved nerve root. Large tumors may cause spinal cord compression. neoplasm of nerve Root neoplasm of nerve root neoplasm of the nerve Root neoplasms, nerve Root nerve Root neoplasms nerve Root tumor nerve Root tumors nerve root neoplasm (disease) nerve root tumor tumor of nerve Root tumor of nerve root tumor of the nerve Root nerve root neoplasm MONDO:0003104 A malignant neoplasm involving the epicardium. epicardial tumor cancer of epicardium epicardium cancer malignant epicardial neoplasm malignant epicardial tumor malignant epicardium neoplasm malignant neoplasm of epicardium malignant neoplasm of the epicardium malignant tumor of epicardium malignant tumor of the epicardium epicardium cancer MONDO:0003105 A disease involving the prostate gland. disease of prostate gland disease or disorder of prostate gland disorder of prostate gland prostate disease prostate disorder prostate gland disease prostate gland disease or disorder prostate disorder MONDO:0003107 Malignant neoplasms which arise or occur within the intracranial cavity below the tentorium cerebelli. This includes neoplasms within the brain and/or surrounding spaces. brain neoplasm, infratentorial infratentorial neoplasms, malignant malignant infratentorial neoplasm malignant infratentorial tumor malignant infratentorial tumors infratentorial cancer MONDO:0003108 cervicomedullary junction neoplasms cervicomedullary junction tumor neoplasm of cervicomedullary junction neoplasm of the cervicomedullary junction tumor of cervicomedullary junction tumor of the cervicomedullary junction cervicomedullary junction neoplasm MONDO:0003109 A meningioma that affects the foramen magnum. foramen magnum meningioma (disease) meningioma (disease) of foramen magnum meningioma of Foramen magnum meningioma of the Foramen magnum foramen magnum meningioma MONDO:0003110 A hemangioma arising from the skin. angioma of skin angioma of the skin angiomatous naevus of skin hemangioma of skin hemangioma of the skin hemangioma of zone of skin skin angioma skin hemangioma zone of skin hemangioma skin hemangioma MONDO:0003111 A neoplasm with neuroendocrine differentiation that arises from the stomach. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). NET of stomach gastric neuroendocrine neoplasm neuroendocrine neoplasm of stomach neuroendocrine neoplasm of the stomach neuroendocrine tumor of the stomach stomach NET stomach neuroendocrine neoplasm stomach neuroendocrine tumor stomach neuroendocrine tumor, well differentiated, low or intermediate grade neuroendocrine tumor of stomach Some subtypes are malignant. gastric neuroendocrine neoplasm MONDO:0003112 A malignant germ cell tumor that arises from the stomach. It includes choriocarcinoma and immature teratoma. germ cell tumor of the stomach malignant gastric germ cell neoplasm malignant gastric germ cell tumor malignant germ cell neoplasm of stomach malignant germ cell neoplasm of the stomach malignant germ cell tumor of stomach malignant germ cell tumor of the stomach malignant gastric germ cell tumor MONDO:0003113 A malignant germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary. extragonadal germ cell malignant tumor extragonadal germ cell tumor, malignant malignant extragonadal germ cell tumor malignant neoplasm of extragonadal germ cell malignant neoplasm of the extragonadal germ cell malignant tumor of extragonadal germ cell malignant tumor of the extragonadal germ cell tumor of extragonadal germ cell extragonadal germ cell cancer MONDO:0003115 A hemangioma arising from the subglottic area. angioma of subglottis angioma of the subglottis hemangioma of subglottis hemangioma of the subglottis subglottic angioma subglottic hemangioma subglottis angioma subglottis hemangioma subglottic hemangioma MONDO:0003117 A category of psychiatric disorders which are characterized by the presence of physical symptoms that suggest a medical condition but are not fully explained by any known medical reasons. somatoform disorder physiological malfunction arising from mental factor psychophysiologic disorder psychosomatic disorder somatoform disorder MONDO:0003118 An uncommon usually benign neoplasm that arises from the testis. It is characterized by the presence of cysts lined by transitional cells and solid nests of transitional cells in a spindle cell stroma. testes, rudimentary Brenner tumor testis Brenner tumor testicular Brenner tumor MONDO:0003120 A malignant germ cell tumor that arises from the testis and is characterized by the presence of more than one histologic component. Representative examples include mixed choriocarcinoma and embryonal carcinoma, mixed embryonal carcinoma and seminoma, and mixed yolk sac tumor and teratoma. mixed germ cell neoplasm of testis mixed germ cell neoplasm of the testis mixed germ cell tumor mixed germ cell tumor of testis mixed germ cell tumor of the testis mixed testicular germ cell tumor testicular germ cell tumor (mixed) testicular mixed germ cell neoplasm testicular mixed germ cell tumor testis mixed germ cell tumor mixed testicular germ cell cancer MONDO:0003121 A meningioma that affects the middle cranial fossa. meningioma (disease) of middle cranial fossa meningioma of middle cranial fossa meningioma of the middle cranial fossa middle cranial fossa meningioma (disease) middle cranial fossa meningioma MONDO:0003122 A progressive neurodegenerative disorder caused by a disruption in the connection between the striatum and the substantia nigra. It is a type of multiple system atrophy (MSA). Signs and symptoms include rigidity, instability, impaired speech, and slow movements. striatonigral degeneration MONDO:0003124 A sex cord-stromal tumor that arises from the testis and is characterized by the presence of cells that resemble the successive stages of development of Leydig cells. It usually presents as a painless testicular mass. Gynecomastia is present in approximately thirty percent of the cases. Libido may be decreased. In children, precocious puberty may be present. A minority of cases exhibit malignant characteristics. Leydig cell neoplasm of testis Leydig cell neoplasm of the testis Leydig cell tumor of testis testicular Leydig cell neoplasm testicular Leydig cell tumor testis Leydig cell tumor Leydig cell tumor of the testis testicular Leydig cell tumor MONDO:0003125 A benign or malignant tumor that arises from the testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the tumor or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, ten percent of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group. sex cord-stromal tumor of testis testicular sex cord-stromal neoplasm testicular sex cord-stromal tumor testis sex cord-stromal tumor sex cord-stromal neoplasm sex cord-stromal neoplasm of testis sex cord-stromal neoplasm of the testis sex cord-stromal tumor of the testis testicular sex cord-stromal neoplasm MONDO:0003126 A capillary or cavernous hemangioma arising from the breast. angioma of breast angioma of the breast breast angioma breast hemangioma hemangioma of breast hemangioma of the breast breast hemangioma MONDO:0003128 A pulmonary blastoma composed of a mixture of irregular tubular structures and mesenchymal elements. biphasic pulmonary blastoma classic pulmonary blastoma classic pulmonary blastoma MONDO:0003129 A non-encapsulated, well defined pulmonary blastoma, composed of irregular tubular structures. It affects mostly middle-aged adults and it is rare in children. The prognosis is better compared to the biphasic pulmonary blastoma. epithelial predominant pulmonary blastoma epithelial predominant pulmonary blastoma MONDO:0003130 A solid, unencapsulated tumor of the kidney composed of spindle mesenchymal cells that resemble fibroblasts or muscle cells. The homogeneous mass typically extends into the renal parenchyma and replaces most of the kidney. In most cases, mesoblastic nephroma is benign and occurs in the fetus or newborn, and rarely in the older child or the adult. mesoblastic nephroma mesoblastic nephroma (morphologic abnormality) mesoblastic nephroma MONDO:0003133 Inflammation of the glomeruli with infiltration by polymorphonuclear leukocytes. exudative glomerulonephritis MONDO:0003134 A constellation of renal disorders characterized by an increase number of cells in the glomerulus; these disorders generally present with nephrotic syndrome, and generally progress to end stage renal failure over a matter of weeks to years, depending on the etiology. Examples include IgA nephropathy, membranoproliferative glomerulonephritis, and rapidly progressive glomerulonephritis. proliferative glomerulonephritis MONDO:0003135 Inflammation of a specific segment of glomeruli, which is associated with subacute bacterial endocarditis, and frequently produces microscopic hematuria without azotemia. focal embolic glomerulonephritis MONDO:0003136 Inflammation of the glomeruli secondary to presence of autoantibodies directed at specific antigenic targets within the glomerular basement membrane, causing hematuria, proteinuria, and impaired renal function. anti-GBM antibody disease anti-glomerular basement Membrane antibody disease anti-basement membrane glomerulonephritis MONDO:0003137 Inflammation of the glomeruli, in which all glomeruli are affected, resulting in renal failure. diffuse glomerulonephritis MONDO:0003138 A term that refers to glomerular damage resulting in hematuria, proteinuria, and azotemia. The histopathologic changes include rapidly progressive glomerulonephritis and membranoproliferative glomerulonephritis. subacute glomerulonephritis MONDO:0003139 Mesangial proliferative glomerulonephritis (MPGN) is a condition that affects the kidneys. Many experts consider it a variant of minimal change disease, but some experts believe it is a separate condition. It may present with nephrotic syndrome, which is a group of symptoms that include protein in the urine (proteinuria), low blood protein levels, high cholesterol levels, high triglyceride levels, and swelling. It can also present with blood in the urine (hematuria). MPGN is characterized by an increased number of mesangial cells in the glomeruli in the kidneys and damage to the glomeruli. Glomeruli are the structures that help filter wastes and fluids. MPGN may occur in several renal diseases such as IgA nephropathy (commonly), IgM nephropathy, lupus nephritis, and C1q nephropathy.However, in some cases, the underlying cause of MPGN remains unclear. Treatment may depend on the cause (if known) and may include steroids, mycophenolate mofetil, and/or cyclophosphamide, and other therapies to treat specific symptoms. Most people with MPGN have a good prognosis, but some may develop chronic kidney disease, which can progress to end stage renal failure. Mesangioproliferative glomerulonephritis glomerulonephritis - mesangial proliferative mesangial proliferative GN mesangial proliferative glomerulonephritis https://rarediseases.info.nih.gov/diseases/9580/mesangial-proliferative-glomerulonephritis MONDO:0003140 Inflammation of the glomeruli characterized by the accumulation of antibody-antigen immune complexes, resulting in glomerular damage and impaired kidney function. immune Complex glomerulonephritis immune-complex glomerulonephritis MONDO:0003141 A central nervous system embryonal tumor, not otherwise specified arising from the cerebellopontine angle of the infratentorial brain. C-P angle PNET C-P angle primitive neuroectodermal neoplasm C-P angle primitive neuroectodermal tumor cerebellar Pontine angle PNET cerebellar Pontine angle primitive neuroectodermal neoplasm cerebellar Pontine angle primitive neuroectodermal tumor cerebellopontine angle PNET cerebellopontine angle primitive neuroectodermal neoplasm cerebellopontine angle primitive neuroectodermal tumor primitive neuroectodermal neoplasm of C-P angle primitive neuroectodermal neoplasm of cerebellar Pontine angle primitive neuroectodermal neoplasm of cerebellopontine angle primitive neuroectodermal neoplasm of the C-P angle primitive neuroectodermal neoplasm of the cerebellar Pontine angle primitive neuroectodermal neoplasm of the cerebellopontine angle primitive neuroectodermal tumor of C-P angle primitive neuroectodermal tumor of cerebellar Pontine angle primitive neuroectodermal tumor of cerebellopontine angle primitive neuroectodermal tumor of the C-P angle primitive neuroectodermal tumor of the cerebellar Pontine angle primitive neuroectodermal tumor of the cerebellopontine angle cerebellopontine angle primitive neuroectodermal cerebellopontine angle embryonal tumor MONDO:0003142 A primitive neuroectodermal tumor that involves the brain. brain primitive neuroectodermal tumor intracranial PNET intracranial primitive neuroectodermal neoplasm intracranial primitive neuroectodermal tumor primitive neuroectodermal tumor of brain intracranial primitive neuroectodermal tumor MONDO:0003143 A vascular lesion in the papillary dermis resulting from ectasia of pre-existing vessels. It is associated with secondary proliferative changes in the overlying epidermis (hyperkeratosis). It can present with widespread lesions (angiokeratoma corporis diffusum, often associated with inborn errors of metabolism) or as a localized lesion (angiokeratoma of Fordyce, angiokeratoma circumscriptum, and angiokeratoma of Mibelli). angiokeratoma (morphologic abnormality) angiokeratoma of skin angiokeratoma of the skin cutaneous angiokeratoma skin angiokeratoma angiokeratoma MONDO:0003144 A rare, usually aggressive malignant embryonal neoplasm of the central nervous system occurring in children. It is characterized by the presence of neuroepithelial cells which form papillary, trabecular, or tubular structures and absence of C19MC amplification. Symptoms include headache, nausea, and vomiting. Diktyoma, malignant central nervous system medulloepithelioma medulloepithelioma NOS (morphologic abnormality) medulloepithelioma of the central nervous system medulloepithelioma, central nervous system MDEP medulloepithelioma MONDO:0003145 A central nervous system embryonal tumor, not otherwise specified arising from the supratentorial region. CNS/supratentorial PNET supratent. primitive neuro. tumor supratentorial PNET supratentorial primitive neuroectodermal tumor supratentorial primitive neuroectodermal tumor MONDO:0003147 Disorder characterized by nausea, vomiting, and dizziness, possibly in response to vestibular disorientation or fluid shifts associated with space flight. (From Webster's New World Dictionary) Space adaptation syndrome adaptation syndrome, Space motion sickness, Space syndrome, Space adaptation space motion sickness MONDO:0003150 A disease involving the male reproductive system. Male reproductive system disease Male reproductive system disorder disease of male reproductive system disease or disorder of male reproductive system disorder of Male reproductive system disorder of male reproductive system male reproductive disease male reproductive system disease male reproductive system disease or disorder male reproductive system disorder MONDO:0003152 adult brain stem gliosarcoma adult brainstem gliosarcoma adult brainstem gliosarcoma MONDO:0003153 A brain stem glioma that occurs in an adult. brain stem glioma adult brain stem glioma adult brainstem glioma adult brainstem neuroglial neoplasm adult brainstem neuroglial tumor brain stem glioma of adults glioma of adult brain stem glioma of the adult brain stem adult brainstem glioma MONDO:0003154 A hemangioma arising from the peripheral nerves. hemangioma of nerve hemangioma of peripheral nerve nerve hemangioma hemangioma of peripheral nerve MONDO:0003155 A hemangioma characterized by the presence of cavernous vascular spaces. cavernoma cavernous angioma cavernous haemangioma cavernous hemangioma cavernous hemangioma (morphologic abnormality) cavernous hemangioma MONDO:0003157 Syndromes of bone destruction where the cause is not obvious such as neoplasia, infection, or trauma. The destruction follows various patterns: massive (Gorham disease), multicentric (hajdu-cheney syndrome), or carpal/tarsal. essential osteolysis phantom bone disease Gorham's disease Gorham-Stout syndrome massive osteolysis disappearing bone disease MONDO:0003158 An infiltrating malignant tumor characterized by the presence of atypical cells with myoepithelial differentiation. Representative examples include malignant breast myoepithelioma and salivary gland myoepithelial carcinoma. malignant myoepithelioma myoepithelial carcinoma myoepithelioma, malignant myoepithelioma carcinoma soft tissue myoepithelial carcinoma malignant myoepithelioma https://rarediseases.info.nih.gov/diseases/10558/myoepithelial-carcinoma MONDO:0003159 Pathological processes involving the integrity of blood circulation. Hemostasis depends on the integrity of blood vessels, blood fluidity, and blood coagulation. Majority of the hemostatic disorders are caused by disruption of the normal interaction between the vascular endothelium, the plasma proteins (including blood coagulation factors), and platelets. disorder, vascular hemostatic disorders, vascular hemostatic hemostatic disorder hemostatic disorder, vascular hemostatic disorders, vascular vascular hemostatic disorder vascular hemostatic disorders vascular hemostatic disease MONDO:0003163 intradural extramedullary Cauda equina astrocytoma intradural extramedullary astrocytic tumor of the Cauda equina intradural extramedullary astrocytoma of Cauda equina intradural extramedullary astrocytoma of the Cauda equina cauda equina intradural extramedullary astrocytoma MONDO:0003164 A neoplasm involving a cauda equina. Cauda equina neoplasms cauda equina neoplasm (disease) cauda equina tumor neoplasm of cauda equina neoplasm of the Cauda equina tumor of Cauda equina tumor of cauda equina tumor of the Cauda equina cauda equina neoplasm MONDO:0003165 Benign and malignant neoplasms of the cerebellum that arise from astrocytes. During childhood the majority are benign pilocytic astrocytomas. In adults both benign and relatively higher grade forms may occur. The most common presenting symptoms are headache, nausea, vomiting, ataxia of gait or limb, paresis, diplopia, and dizziness. Objective signs include weakness, long tract signs, dysmetria, gait ataxia, papilledema, and nystagmus. Surgical resection is often curative. astrocytoma (excluding glioblastoma) of cerebellum astrocytoma of cerebellum astrocytoma of the cerebellum astrocytoma, cerebellar cerebellar astrocytoma cerebellum astrocytoma cerebellum astrocytoma (excluding glioblastoma) cerebellar astrocytoma MONDO:0003168 A WHO Grade 1 astrocytoma which arises in the cerebellum. The tumor is composed of spindle shaped cells with numerous collections of reddish astrocytic fibers called Rosenthal fibers. Over 80% or the cerebellar astrocytomas of childhood are pilocytic. Pilocytic astrocytomas may rarely occur in adults. They are usually treated by surgical resection and in most cases have a favorable prognosis. cerebellar pilocytic astrocytoma cerebellum pilocytic astrocytoma pilocytic astrocytoma of cerebellum pilocytic astrocytoma of the cerebellum cerebellar pilocytic astrocytoma MONDO:0003169 A astrocytoma that involves the diencephalon. astrocytoma (excluding glioblastoma) of diencephalon astrocytoma of diencephalon astrocytoma of the diencephalon diencephalic astrocytoma diencephalon astrocytoma diencephalon astrocytoma (excluding glioblastoma) diencephalic astrocytomas MONDO:0003170 An astrocytic tumor affecting young people. Morphologically, it is characterized by the presence of collagenous tissue surrounding neoplastic astrocytes. In some cases the collagen is produced by the tumor cells (desmoplastic astrocytoma), whereas in others it is produced by mesenchymal cells (mixed glioma/fibroma). gliofibroma (morphologic abnormality) gliofibroma MONDO:0003171 A astrocytoma that involves the pineal body. astrocytoma (excluding glioblastoma) of pineal body astrocytoma of pineal gland astrocytoma of the pineal gland pineal astrocytic tumor pineal astrocytoma pineal body astrocytoma pineal body astrocytoma (excluding glioblastoma) pineal gland astrocytoma MONDO:0003172 glomeruloid hemangioma MONDO:0003173 An astrocytoma that arises from the brain stem. astrocytoma (excluding glioblastoma) of brainstem brain stem astrocytoma brainstem astrocytoma brainstem astrocytoma (excluding glioblastoma) brain stem astrocytic neoplasm MONDO:0003174 A low or high grade astrocytoma that arises in the spinal cord. astrocytoma (excluding glioblastoma) of spinal cord astrocytoma of spinal cord astrocytoma of the spinal cord spinal astrocytoma spinal cord astrocytoma spinal cord astrocytoma (excluding glioblastoma) spinal cord astrocytoma MONDO:0003175 An adenoid cystic carcinoma arising from the salivary gland. It is characterized by the presence of epithelial and myoepithelial cells forming tubular, cribriform, and solid patterns. It usually presents as a slow growing mass. Patients may experience pain because of the tumor propensity for perineural invasion. The tumor may follow an aggressive clinical course with recurrences and mestastases to distant sites including lungs, bones, brain, and liver. adenoid cystic cancer adenoid cystic carcinoma (morphologic abnormality) adenoid cystic carcinoma of salivary gland adenoid cystic carcinoma of the salivary gland cylindroma (morphologic abnormality) saliva-secreting gland adenoid cystic carcinoma salivary gland adenoid cystic cancer salivary gland adenoid cystic carcinoma salivary gland adenoid cystic carcinoma MONDO:0003177 An adenoid cystic carcinoma that arises from the prostate gland. adenoid cystic carcinoma of prostate adenoid cystic carcinoma of the prostate prostate adenoid cystic carcinoma prostate gland adenoid cystic carcinoma prostate adenoid cystic carcinoma MONDO:0003180 A adenoid cystic carcinoma that involves the skin of body. adenoid cystic carcinoma of skin adenoid cystic carcinoma of the skin adenoid cystic cutaneous carcinoma adenoid cystic eccrine carcinoma adenoid cystic eccrine carcinoma (morphologic abnormality) adenoid cystic eccrine carcinoma of skin adenoid cystic skin carcinoma primary cutaneous adenocystic carcinoma skin of body adenoid cystic carcinoma cutaneous adenocystic carcinoma MONDO:0003181 A rare usually indolent lung carcinoma characterized by a cribiform and tubular pattern and the presence of glandular epithelial cells. Clinical symptoms include shortness of breath, cough, wheeze, hemopytsis and chest pain. adenocystic carcinoma of lung adenocystic carcinoma of the lung adenoid cystic carcinoma of lung adenoid cystic carcinoma of the lung lung adenocystic carcinoma lung adenoid cystic cancer lung adenoid cystic carcinoma pulmonary adenocystic carcinoma pulmonary adenoid cystic carcinoma LUACC lung adenoid cystic carcinoma MONDO:0003182 Anterior horn disease is one of a number of medical disorders affecting the anterior horn of the spinal cord. Anterior horn diseases include spinal muscular atrophy, poliomyelitis and amyotrophic lateral sclerosis. disease of ventral horn of spinal cord disease or disorder of ventral horn of spinal cord disorder of ventral horn of spinal cord ventral horn of spinal cord disease ventral horn of spinal cord disease or disorder TODO - check this. DO places as a subtype of SMA, but we invert this. Consider merging into MND anterior horn disorder MONDO:0003184 A carcinoma that arises from epithelial cells of the trachea. cancer of trachea trachea cancer cancer of the trachea carcinoma of the trachea carcinoma of trachea trachea carcinoma tracheal carcinoma trachea carcinoma MONDO:0003185 An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent. adenocystic breast carcinoma adenocystic carcinoma of breast adenocystic carcinoma of the breast adenoid cystic breast carcinoma adenoid cystic carcinoma of breast adenoid cystic carcinoma of the breast breast adenoid cystic carcinoma mammary adenocystic carcinoma mammary adenoid cystic carcinoma adenoid cystic breast cancer adenoid cystic breast carcinoma MONDO:0003186 An infrequent esophageal carcinoma arising from esophageal glands. (WHO) adenoid cystic carcinoma of esophagus adenoid cystic carcinoma of the esophagus adenoid cystic carcinoma, esophagus adenoid cystic esophagus carcinoma esophageal adenoid cystic cancer esophageal adenoid cystic carcinoma esophagus adenoid cystic carcinoma esophageal adenoid cystic carcinoma MONDO:0003187 A carcinoma that arises from the Bartholin gland and is characterized by the presence of islands of uniform malignant cells forming cribriform patterns. Bartholin gland adenoid cystic carcinoma Bartholin's gland adenoid cystic carcinoma major vestibular gland adenoid cystic carcinoma Bartholin gland adenoid cystic carcinoma MONDO:0003189 A carcinoma that arises from glandular epithelial cells of the middle ear adenocarcinoma of middle Ear adenocarcinoma of the middle Ear adenocarcinoma of the middle ear middle Ear adenocarcinoma middle ear adenocarcinoma adenocarcinoma of middle ear middle ear adenocarcinoma MONDO:0003190 A carcinoma that arises from epithelial cells of the middle ear carcinoma of middle Ear carcinoma of middle ear carcinoma of the middle Ear carcinoma of the middle ear middle Ear carcinoma middle ear carcinoma middle ear carcinoma MONDO:0003191 An exceptionally rare adenocarcinoma that arises from the rete ovarii. rete ovarii adenocarcinoma rete ovarii adenocarcinoma MONDO:0003192 A benign or malignant neoplasm that arises from the rete ovarii which is located in the ovarian hilus. It includes adenoma, cystadenoma, cystadenofibroma, and adenocarcinoma. neoplasm of rete ovarii rete ovarii neoplasm (disease) rete ovarii tumor tumor of rete ovarii rete ovarii neoplasm MONDO:0003193 A carcinoma that arises from glandular epithelial cells of the bile duct bile duct adenocarcinoma bile duct adenocarcinoma MONDO:0003194 A hemangioma that involves the lung. lung hemangioma pulmonary hemangioma hemangioma of lung MONDO:0003195 A rare, serous adenocarcinoma that arises from the lining of the peritoneum. It affects females. The clinical behavior and pathologic characteristics are similar to the serous adenocarcinoma that arises from the ovary. peritoneum serous adenocarcinoma primary peritoneal serous adenocarcinoma peritoneal serous adenocarcinoma MONDO:0003196 A carcinoma that arises from epithelial cells of the vermiform appendix appendix cancer Ca appendix appendix carcinoma carcinoma of appendix carcinoma of the appendix carcinoma of vermiform appendix vermiform appendix carcinoma appendix carcinoma MONDO:0003197 An adenocarcinoma characterized by the presence of malignant epithelial cells with granular cytoplasm. granular cell adenocarcinoma granular cell carcinoma granular cell carcinoma (morphologic abnormality) granular cell carcinoma MONDO:0003198 An adenocarcinoma that arises from the small intestine. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma. adenocarcinoma - small intest. adenocarcinoma of small bowel adenocarcinoma of small instestine adenocarcinoma of small intestine adenocarcinoma of the small bowel adenocarcinoma of the small intestine small bowel adenocarcinoma small intestinal adenocarcinoma small intestine adenocarcinoma adenocarcinoma of the small instestine small intestine adenocarcinoma MONDO:0003199 A carcinoma that arises from epithelial cells of the anus Ca anus anal cancer cancer of anus cancer of the anus anal carcinoma anus carcinoma carcinoma of anus carcinoma of the anus anal carcinoma MONDO:0003200 A carcinoma that arises from glandular epithelial cells of the urethra adenocarcinoma of the urethra adenocarcinoma of urethra urethra adenocarcinoma urethral adenocarcinoma UAD urethra adenocarcinoma MONDO:0003202 basophil adenocarcinoma basophil carcinoma basophil carcinoma (morphologic abnormality) pituitary gland basophil carcinoma basophilic carcinoma pituitary gland basophilic carcinoma MONDO:0003204 An adenocarcinoma characterized by the presence of a villous architectural pattern. It may arise from a villous adenoma. villous adenocarcinoma villous adenocarcinoma (morphologic abnormality) villous adenocarcinoma MONDO:0003205 A carcinoma that arises from glandular epithelial cells of the renal pelvis adenocarcinoma of kidney pelvis adenocarcinoma of renal pelvis adenocarcinoma of the kidney pelvis adenocarcinoma of the renal pelvis kidney pelvis adenocarcinoma kidney renal pelvis adenocarcinoma renal pelvis adenocarcinoma renal pelvis adenocarcinoma MONDO:0003206 A hemangioma that is not present at birth but develops later in life. acquired hemangioma acquired hemangioma MONDO:0003208 A rare, low grade invasive adenocarcinoma of the breast characterized by the presence of cells that secrete milk-like material. Morphologically, it usually appears as a circumscribed lesion, composed of cystic spaces, tubular structures, and solid areas. cystic hypersecretory breast carcinoma cystic hypersecretory carcinoma of breast cystic hypersecretory carcinoma of the breast infiltrating cystic hypersecretory duct breast carcinoma invasive cystic hypersecretory duct breast carcinoma juvenile breast carcinoma juvenile carcinoma of breast juvenile carcinoma of the breast juvenile carcinoma of the breast (morphologic abnormality) juvenile secretory breast carcinoma juvenile secretory carcinoma of breast juvenile secretory carcinoma of the breast secretory breast carcinoma secretory carcinoma secretory carcinoma of breast secretory carcinoma of the breast JSCB SBC juvenile carcinoma (formerly) breast secretory carcinoma https://rarediseases.info.nih.gov/diseases/9408/secretory-breast-carcinoma MONDO:0003209 A rare primary thymic carcinoma, characterized by the presence of carcinoma cells with glandular differentiation. Thymus adenocarcinoma adenocarcinoma of Thymus adenocarcinoma of the Thymus thymic adenocarcinoma thymus adenocarcinoma thymus gland adenocarcinoma MONDO:0003210 A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor. ICC cholangiocarcinoma, intrahepatic, malignant intrahepatic Cholangiocellular carcinoma intrahepatic bile duct cancer (cholangiocarcinoma) intrahepatic bile duct carcinoma intrahepatic carcinoma of bile duct intrahepatic carcinoma of the bile duct intrahepatic cholangiocarcinoma intrahepatic cholangiocarcinoma (bile duct cancer) peripheral cholangiocarcinoma IHCH intrahepatic cholangiocarcinoma https://rarediseases.info.nih.gov/diseases/6042/intrahepatic-cholangiocarcinoma MONDO:0003211 A carcinoma that arises from glandular epithelial cells of the nasal cavity adenocarcinoma of nasal cavity adenocarcinoma of the nasal cavity nasal cavity adenocarcinoma nasal cavity adenocarcinoma MONDO:0003212 A carcinoma that arises from epithelial cells of the nasal cavity cancer of nasal cavity cancer of the nasal cavity nasal cavity cancer carcinoma of nasal cavity carcinoma of the nasal cavity nasal cavity carcinoma nasal cavity carcinoma MONDO:0003214 A carcinoma with apocrine differentiation arising from the sweat glands. It presents as single or multiple nodular lesions which may be ulcerated or hemorrhagic and is usually in the axilla and less often in the anogenital region. It grows in the dermis and infiltrates subcutaneous tissues. It is characterized by the presence of large cells with abundant eosinophilic cytoplasm and large often vesicular nuclei. Most cases are slow growing tumors and have a prolonged course. apocrine adenocarcinoma (morphologic abnormality) apocrine carcinoma apocrine gland adenocarcinoma apocrine gland carcinoma carcinoma of apocrine gland carcinoma of the apocrine gland apocrine adenocarcinoma MONDO:0003215 A malignant neoplasm involving the apocrine sweat gland. apocrine sweat gland cancer cancer of apocrine sweat gland malignant apocrine neoplasm malignant apocrine neoplasm of skin malignant apocrine neoplasm of the skin malignant apocrine skin neoplasm malignant apocrine skin tumor malignant apocrine sweat gland neoplasm malignant apocrine tumor malignant apocrine tumor of skin malignant apocrine tumor of the skin malignant neoplasm of apocrine sweat gland apocrine sweat gland cancer MONDO:0003216 A carcinoma that arises from glandular epithelial cells of the ureter adenocarcinoma of the ureter adenocarcinoma of ureter ureter adenocarcinoma ureteral adenocarcinoma ureter adenocarcinoma MONDO:0003218 A lesion in which the normally situated glands are partially or completely replaced by atypical cells with malignant characteristics. adenocarcinoma in situ AIS adenocarcinoma in situ MONDO:0003219 A carcinoma that arises from glandular epithelial cells of the esophagogastric junction. adenocarcinoma - GEJ adenocarcinoma of cardioesophageal junction adenocarcinoma of gastroesophageal junction adenocarcinoma of the EG junction adenocarcinoma of the GE junction adenocarcinoma of the cardioesophageal junction adenocarcinoma of the esophagogastric junction adenocarcinoma of the gastroesophageal junction esophagogastric junction adenocarcinoma gastroesophageal junction adenocarcinoma esophagogastric adenocarcinoma gastroesophageal junction adenocarcinoma MONDO:0003220 A carcinoma that arises from epithelial cells of the gall bladder gallbladder cancer Gall bladder carcinoma (adeno) Gall bladder carcinoma (adenocarcinoma) cancer of gallbladder cancer of the gallbladder carcinoma gallbladder carcinoma of gall bladder carcinoma of gallbladder carcinoma of the gallbladder gall bladder carcinoma gallbladder carcinoma gallbladder carcinoma MONDO:0003222 A primary tumor of the central nervous system that arises from leptomeningeal melanocytes. It may present as a diffuse proliferative leptomeningeal process (often as a component of the neurocutaneous melanosis complex) or as a distinct mass lesion. CNS melanocytic neoplasm CNS melanocytic tumor central nervous system melanocytic neoplasm central nervous system melanocytic neoplasms central nervous system melanocytic tumor melanocytic neoplasm of CNS melanocytic neoplasm of central nervous system melanocytic neoplasm of the CNS melanocytic neoplasm of the central nervous system melanocytic tumor of CNS melanocytic tumor of central nervous system melanocytic tumor of the CNS melanocytic tumor of the central nervous system central nervous system primary melanocytic lesion primary melanocytic lesion of meninges primary melanocytic lesions of the CNS central nervous system melanocytic neoplasm MONDO:0003223 A solitary fibrous tumor/hemangiopericytoma that arises from the meninges. hemangiopericytoma of meninges hemangiopericytoma of the meninges meningeal cluster hemangiopericytoma meningeal cluster spindle cell tumor meningeal hemangiopericytoma meningeal solitary fibrous tumor/hemangiopericytoma meninges hemangiopericytoma hemangiopericytoma of the central nervous system meninges hemangiopericytoma MONDO:0003225 Any disease of the bone marrow. bone marrow disease bone marrow disease or disorder bone marrow disorder disease of bone marrow disease or disorder of bone marrow disorder of bone marrow bone marrow disorder MONDO:0003227 Impaired ability to recognize other human faces in the absence of a vision disorder. It may be a congenital disorder or the result of brain injury. prosopagnosia (disease) face blindness prosopagnosia prosopagnosia (disease) prosopagnosia MONDO:0003231 A poliomyelitis that does not exhibit paralysis. acute nonparalytic poliomyelitis nonparalytic poliomyelitis non-paralytic aseptic meningitis acute nonparalytic poliomyelitis MONDO:0003232 Acute or chronic inflammation of the pancreas due to excessive alcohol drinking. Alcoholic pancreatitis usually presents as an acute episode but it is a chronic progressive disease in alcoholics. alcoholic pancreatitis alcoholic pancreatitis MONDO:0003233 A relatively common disorder characterized by a fairly specific pattern of tremors which are most prominent in the upper extremities and neck, inducing titubations of the head. The tremor is usually mild, but when severe may be disabling. An autosomal dominant pattern of inheritance may occur in some families (i.e., familial tremor). (Mov Disord 1988;13(1):5-10) benign essential tremor shaky hand syndrome essential hereditary tremor tremor, hereditary essential essential tremor MONDO:0003234 A astrocytoma (excluding glioblastoma) that involves the cranial nerve II. astrocytic tumor of optic nerve astrocytoma (excluding glioblastoma) of cranial nerve II astrocytoma of optic nerve astrocytoma of the optic nerve cranial nerve II astrocytoma (excluding glioblastoma) optic nerve astrocytoma optic tract astrocytoma optic tract astrocytoma (excluding glioblastoma) optic nerve astrocytoma MONDO:0003235 A glioma that affects the optic nerve. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group. cranial nerve II glioma glioma of cranial nerve II glioma of optic nerve glioma of the optic nerve optic nerve glioma optic nerve glioma MONDO:0003236 An adenomyoma characterized by the presence of marked glandular architectural complexity. atypical polypoid adenomyoma atypical polypoid adenomyoma (morphologic abnormality) atypical polypoid adenomyoma MONDO:0003237 A usually polypoid, benign neoplasm that arises from the uterine corpus. It is characterized by the presence of benign epithelial glands embedded in benign fibromyomatous tissue. adenomyoma of body of uterus adenomyoma of corpus uteri adenomyoma of the body of uterus adenomyoma of the corpus uteri adenomyoma of the uterine body adenomyoma of the uterine corpus adenomyoma of uterine body adenomyoma of uterine corpus body of uterus adenomyoma corpus uteri adenomyoma uterine body adenomyoma uterine corpus adenomyoma adenomyoma of uterine corpus MONDO:0003238 A rare, benign, usually polypoid neoplasm that arises from the cervix. It is characterized by the presence of a glandular component and a smooth muscle cell component. Variants include the endocervical type, endometrial type, and atypical polypoid adenomyoma. cervical adenomyoma cervical adenomyoma MONDO:0003240 A disease involving the thyroid gland. disease of thyroid gland disease or disorder of thyroid gland disorder of thyroid gland thyroid disease thyroid gland disease thyroid gland disease or disorder thyroid gland diseases thyroid gland disorder thyroid gland disorders thyroid gland disorder MONDO:0003241 A hemangioma arising from the brain and spinal cord. central nervous system hemangioma hemangioma of CNS hemangioma of central nervous system hemangioma of the CNS hemangioma of the central nervous system central nervous system hemangioma MONDO:0003243 A morphologic variant of hepatocellular carcinoma characterized by the presence of clear cells. clear cell carcinoma of liver cells clear cell carcinoma of the liver cells clear cell hepatocellular cancer clear cell hepatocellular carcinoma hepatocellular clear cell carcinoma liver cell clear cell carcinoma hepatocellular clear cell carcinoma MONDO:0003244 A benign or malignant mesenchymal neoplasm originating in the central nervous system or the meninges and showing fibrous, fibrohistiocytic, adipose, myoid, endothelial, chondroid or osseous, but not meningothelial differentiation. Depending on the histological features and clinical behavior of these neoplasms, their grade ranges from benign (WHO grade I) to highly malignant (WHO grade IV). (Adapted from WHO) CNS soft tissue neoplasm CNS soft tissue tumor central nervous system mesenchymal, non-meningothelial neoplasm central nervous system mesenchymal, non-meningothelial tumor central nervous system soft tissue neoplasm central nervous system soft tissue tumor mesenchymal non-meningothelial tumor of the central nervous system mesenchymal, non-meningothelial tumor of CNS mesenchymal, non-meningothelial tumor of central nervous system mesenchymal, non-meningothelial tumor of the CNS non-meningothelial mesenchymal tumor soft tissue neoplasm of CNS soft tissue neoplasm of central nervous system soft tissue neoplasm of the CNS soft tissue neoplasm of the central nervous system soft tissue tumor of CNS soft tissue tumor of central nervous system soft tissue tumor of the CNS soft tissue tumor of the central nervous system central nervous system mesenchymal non-meningothelial tumor MONDO:0003245 A hepatocellular carcinoma that develops following exposure to aflatoxin. aflatoxins-related hepatocellular cancer aflatoxins-related hepatocellular carcinoma aflatoxin-related hepatocellular carcinoma MONDO:0003246 An uncommon type of hepatocelluar carcinoma, morphologically characterized by significant fibrosis around the sinusoid-like spaces and atrophy of the tumor trabeculae. scirrhous hepatocellular cancer scirrhous hepatocellular carcinoma sclerosing hepatic carcinoma sclerosing hepatocellular carcinoma sclerosing hepatic carcinoma MONDO:0003248 A pineal parenchymal cell neoplasm (pineocytoma or pineoblastoma) occurring in adults. pineal parenchymal cell tumor adult pineal gland neoplasm adult pineal gland tumor adult pineal parenchymal cell neoplasm adult pineal parenchymal cell tumor adult pineal parenchymal neoplasm adult pineal parenchymal tumor parenchymal neoplasm of adult pineal gland parenchymal neoplasm of the adult pineal gland parenchymal tumor of adult pineal gland parenchymal tumor of the adult pineal gland pineal parenchymal cell neoplasm of adults adult pineal parenchymal tumor MONDO:0003249 Abnormal malignant growth of the cells that comprise the pineal parenchyma. neoplasm of the pineal region pineocytic tumor tumor of the pineal region cancer of pineal body malignant neoplasm of pineal body malignant neoplasm of pineal gland malignant neoplasm of the pineal gland malignant pineal area neoplasm malignant pineal area tumor malignant pineal body neoplasm malignant pineal gland neoplasm malignant pineal gland tumor malignant pineal region neoplasm malignant pineal region tumor malignant tumor of pineal gland malignant tumor of the pineal gland pineal body cancer pinealoma pineal gland cancer MONDO:0003250 A granular cell tumor that is confined to the site of origin, without metastatic potential. benign granular cell myoblastoma benign granular cell neoplasm benign granular cell tumor granular cell tumor, benign myoblastoma benign granular cell tumor MONDO:0003251 A tumor that usually presents with small nodules or small sessile polyps, predominantly in the distal esophagus. Histologically, it is composed of sheets of oval to polygonal cells with a small central nucleus and abundant granular cytoplasm. This is usually a benign tumor. (WHO, 2000) -- 2003 esophageal granular cell myoblastoma esophageal granular cell neoplasm esophageal granular cell tumor esophagus granular cell tumor granular cell esophageal tumor granular cell esophagus myoblastoma granular cell esophagus neoplasm granular cell esophagus tumor granular cell myoblastoma of esophagus granular cell myoblastoma of the esophagus granular cell neoplasm of esophagus granular cell neoplasm of the esophagus granular cell tumor of esophagus granular cell tumor of the esophagus malignant granular cell esophageal tumor esophageal granular cell tumor MONDO:0003252 An uncommon granular cell tumor which may metastasize to other anatomic sites. Morphologic characteristics include the presence of spindling neoplastic cells, necrosis, extensive pleomorphism, prominent nucleoli, and increased mitiotic activity. granular cell tumor, malignant granular cell tumor, malignant (morphologic abnormality) malignant granular cell myoblastoma malignant granular cell neoplasm malignant granular cell tumor myoblastoma, malignant granular cell cancer MONDO:0003253 A usually benign granular cell tumor that arises from the vulva. granular cell tumor of mammalian vulva mammalian vulva granular cell tumor vulvar granular cell tumor vulvar granular cell tumor MONDO:0003254 A very rare granular cell tumor that arises from the heart. Cardiac granular cell neoplasm Cardiac granular cell tumor granular cell neoplasm of heart granular cell neoplasm of the heart granular cell tumor of heart granular cell tumor of the heart heart granular cell tumor cardiac granular cell neoplasm MONDO:0003255 An exceptionally rare, generally benign, granular cell tumor that arises from the mediastinum. All the reported cases were located in the posterior mediastinum. granular cell myoblastoma of mediastinum granular cell myoblastoma of the mediastinum granular cell neoplasm of mediastinum granular cell neoplasm of the mediastinum granular cell tumor of mediastinum granular cell tumor of the mediastinum mediastinal granular cell myoblastoma mediastinal granular cell neoplasm mediastinal granular cell tumor mediastinum granular cell tumor mediastinal granular cell myoblastoma MONDO:0003256 A generally benign intrasellar and/or suprasellar mass arising from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes. It generally has a slow progression and lacks invasive growth. (Adapted from WHO) granular cell tumor of Neurohypophysis granular cell tumor of neurohypophysis granular cell tumor of the Neurohypophysis (WHO grade I) granular cell tumor of the neurohypophysis granular cell tumor of the posterior pituitary gland neurohypophysis granular cell tumor neurohypophysis granular cell tumor MONDO:0003257 A low-grade neoplasm that arises from the neurohypophysis. It includes the granular cell tumor of the neurohypophysis and pituicytoma. Neurohypophysis neoplasm Neurohypophysis tumor PITUICYTOMA, benign neoplasm of neurohypophysis neurohypophysis neoplasm neurohypophysis neoplasm (disease) neurohypophysis tumor posterior pituitary gland neoplasm posterior pituitary gland tumor posterior pituitary neoplasm posterior pituitary tumor tumor of neurohypophysis posterior pituitary gland neoplasm MONDO:0003258 A hemangioma characterized by the presence of hobnail endothelial cells. Targetoid Hemosiderotic hemangioma hobnail hemangioma hobnail hemangioma MONDO:0003260 A cerebellar neoplasm that occurs in an adult. adult cerebellar neoplasm adult cerebellar neoplasms adult cerebellar tumor adult cerebellar tumors cerebellar neoplasm of adults neoplasm of adult cerebellum neoplasm of the adult cerebellum tumor of adult cerebellum tumor of the adult cerebellum adult cerebellar neoplasm MONDO:0003261 A papillary meningioma that affects the cerebellum. cerebellum papillary meningioma papillary meningioma of cerebellum papillary meningioma of the cerebellum cerebellar papillary meningioma papillary meningioma of the cerebellum MONDO:0003262 A WHO grade III meningioma characterized by the predominant presence of rhabdoid cells forming sheets. meningioma, rhabdoid meningioma, rhabdoid (morphologic abnormality) papillary meningioma (morphologic abnormality) rhabdoid meningioma papillary meningioma rhabdoid meningioma MONDO:0003263 A neoplasm that affects the cerebellum and occurs during childhood. childhood cerebellar neoplasm childhood cerebellar neoplasms childhood cerebellar tumor childhood cerebellar tumors childhood neoplasm of cerebellum childhood neoplasm of the cerebellum childhood tumor of cerebellum childhood tumor of the cerebellum pediatric cerebellar neoplasm pediatric cerebellar tumor pediatric neoplasm of cerebellum pediatric neoplasm of the cerebellum pediatric tumor of cerebellum pediatric tumor of the cerebellum childhood cerebellar neoplasm MONDO:0003264 A basal cell carcinoma which displays squamous differentiation. The neoplastic cells have more abundant cytoplasm with more marked keratinization than typical basal cell carcinomas. It usually has a more aggressive clinical course compared to typical basal cell carcinoma, and it may produce regional or widespread metastases. Basisquamous cell carcinoma basosquamous carcinoma basosquamous cell carcinoma basosquamous tumor, malignant metatypical carcinoma metatypical carcinoma (morphologic abnormality) skin basosquamous cell carcinoma skin mixed basal and squamous cell carcinoma basosquamous carcinoma MONDO:0003265 A category of psychiatric disorders which are characterized by emotional or behavioral symptoms that develop within 3 months of a stressor and do not persist for more than an additional 6 months after the stressor is no longer present. adjustment disease adjustment disorder adjustment reaction adaptation reaction disorder, adjustment disorder, reactive disorders, adjustment disorders, reactive adjustment disorder MONDO:0003266 A group of neoplasms which arise from the ependymal lining of the cerebral ventricles and from the remnants of the central canal of the spinal cord. Ependymal tumors occur predominantly in children and young adults with varied morphological features and biological behavior. There are 4 types: ependymoma, anaplastic ependymoma, myxopapillary ependymoma and subependymoma. (WHO) ependymal neoplasm ependymal tumor ependymal tumors ependymomal tumor ependymal tumor MONDO:0003268 A tumor composed of two or more glial cell types (astrocytes, ependymal cells, and oligodendrocytes). glioma, mixed glioma, mixed, malignant mixed glial neoplasm mixed glial tumor mixed glioma mixed glioma (morphologic abnormality) mixed gliomas mixed neuroglial neoplasm mixed neuroglial tumor mixed glioma MONDO:0003271 iodine hypothyroidism MONDO:0003272 mixed epithelial stromal tumour mixed epithelial stromal tumor MONDO:0003273 A malignant neoplasm involving the sternum neoplasm of sternum cancer of sternum malignant neoplasm of sternum malignant neoplasm of the sternum malignant sternal neoplasm malignant sternal tumor malignant sternum neoplasm malignant tumor of sternum malignant tumor of the sternum sternum cancer sternum cancer MONDO:0003274 A primary or metastatic malignant neoplasm affecting the tissues of the thorax. thoracic tumor thorax neoplasm tumor of thorax cancer of thoracic segment of trunk malignant neoplasm of the thorax malignant neoplasm of thoracic segment of trunk malignant neoplasm of thorax malignant thoracic neoplasm malignant thoracic segment of trunk neoplasm malignant thoracic tumor malignant tumor of the thorax malignant tumor of thorax thoracic segment of trunk cancer thorax cancer thoracic cancer MONDO:0003275 A malignant neoplasm involving the middle ear tumor of the middle ear cancer of middle ear malignant middle Ear tumor malignant middle ear neoplasm malignant neoplasm of middle ear malignant neoplasm of the middle Ear malignant tumor of middle Ear malignant tumor of the middle Ear middle ear cancer middle ear cancer MONDO:0003276 A disease involving the middle ear. disease of middle ear disease or disorder of middle ear disorder of middle ear middle Ear disorder middle ear disease middle ear disease or disorder middle ear disorder MONDO:0003277 A malignant neoplasm that affects the ear. Representative examples include ceruminous adenocarcinoma and squamous cell carcinoma of the external ear and adenocarcinoma of the middle ear. cancer of ear ear cancer malignant Ear neoplasm malignant Ear tumor malignant ear neoplasm malignant neoplasm of Ear malignant neoplasm of ear malignant neoplasm of the Ear malignant tumor of Ear malignant tumor of ear malignant tumor of the Ear auricular cancer malignant ear neoplasm MONDO:0003278 A malignant neoplasm involving the internal ear. cancer of internal ear internal ear cancer malignant internal ear neoplasm malignant neoplasm of internal ear inner ear cancer MONDO:0003279 Ischemic necrosis of the testis usually caused by torsion of the spermatic cord, trauma, or severe epididymo-orchitis. infarction of testis testicular infarction testicular infarct MONDO:0003281 A teratoma that arises from the ovary and is characterized by the presence of cystic structures. Representative example is the dermoid cyst. ovary cystic teratoma ovarian cystic teratoma MONDO:0003282 ovarian cyst (disease) ovarian cyst ovarian cyst (disease) corpus luteum cyst corpus luteum cysts cyst, corpus luteum cyst, ovarian cysts, corpus luteum cysts, ovarian ovarian cyst MONDO:0003283 A benign or malignant neoplasm that affects the epididymis. Representative examples include epididymal adenomatoid tumor and epididymal adenocarcinoma. epididymal neoplasm epididymis neoplasm epididymis neoplasm (disease) epididymis tumor neoplasm of epididymis neoplasm of epididymus tumor of epididymis epididymal neoplasm MONDO:0003284 A benign smooth muscle neoplasm arising from the mediastium. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. leiomyoma of mediastinum leiomyoma of the mediastinum mediastinal leiomyoma mediastinum leiomyoma mediastinum leiomyoma MONDO:0003285 A benign smooth muscle neoplasm arising from the fallopian tube. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. fallopian tube leiomyoma leiomyoma of fallopian tube fallopian tube leiomyoma MONDO:0003286 A benign smooth muscle neoplasm arising from an extrahepatic bile duct. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. extrahepatic bile duct leiomyoma leiomyoma of extrahepatic bile duct leiomyoma of the extrahepatic bile duct extrahepatic bile duct leiomyoma MONDO:0003287 A benign smooth muscle neoplasm arising from the central nervous system. It is characterized by the presence of intersecting fascicles composed of spindle cells that often lack mitotic activity. central nervous system leiomyoma leiomyoma of CNS leiomyoma of central nervous system leiomyoma of the CNS leiomyoma of the central nervous system central nervous system leiomyoma MONDO:0003288 A morphologic variant of leiomyoma characterized by the presence of pleomorphic muscle cells with bizarre hyperchromatic nuclei and eosinophilic cytoplasm. Symplastic leiomyoma atypical leiomyoma bizarre leiomyoma pleomorphic leiomyoma bizarre leiomyoma MONDO:0003289 A rare benign smooth muscle neoplasm arising from deep tissue. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. deep leiomyoma deep leiomyoma MONDO:0003290 simple partial epilepsy MONDO:0003291 A benign smooth muscle neoplasm arising from the arrector pili muscle, tunica media of blood vessels, and dartos muscle of the genitalia. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. cutaneous (skin) leiomyoma cutaneous leiomyoma leiomyoma cutis leiomyoma of skin leiomyoma of the skin leiomyoma of zone of skin skin leiomyoma zone of skin leiomyoma leiomyoma cutis MONDO:0003292 A well-circumscribed benign smooth muscle neoplasm arising from the anus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. anal leiomyoma anus leiomyoma leiomyoma of anus leiomyoma of the anus anus leiomyoma MONDO:0003293 A benign smooth muscle neoplasm arising from the lung. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. leiomyoma of lung leiomyoma of the lung lung leiomyoma pulmonary leiomyoma lung leiomyoma MONDO:0003294 A benign smooth muscle neoplasm arising from the pericardium. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. leiomyoma of pericardium leiomyoma of the pericardium pericardial leiomyoma pericardium leiomyoma pericardium leiomyoma MONDO:0003295 A condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body. leiomyomatosis leiomyomatosis, no ICD-O subtype leiomyomatosis, no ICD-O subtype (morphologic abnormality) leiomyomatosis MONDO:0003296 A morphologic variant of classic leiomyoma characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern. cellular leiomyoma cellular leiomyoma (morphologic abnormality) cellular leiomyoma MONDO:0003297 A benign smooth muscle neoplasm arising from the gallbladder. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. gall bladder leiomyoma gallbladder leiomyoma leiomyoma of gall bladder leiomyoma of gallbladder leiomyoma of the gallbladder gallbladder leiomyoma MONDO:0003298 A benign smooth muscle neoplasm arising from the vulva. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. leiomyoma of mammalian vulva mammalian vulva leiomyoma vulvar leiomyoma vulvar leiomyoma MONDO:0003299 A well-circumscribed benign smooth muscle neoplasm arising from the colorectal area. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. colorectal leiomyoma colorectum leiomyoma large bowel leiomyoma large intestine leiomyoma leiomyoma of large bowel leiomyoma of large intestine leiomyoma of the large bowel leiomyoma of the large intestine colorectal leiomyoma MONDO:0003300 A well-circumscribed benign smooth muscle neoplasm arising from the appendix. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. appendiceal leiomyoma appendix leiomyoma leiomyoma of appendix leiomyoma of the appendix leiomyoma of vermiform appendix vermiform appendix leiomyoma appendix leiomyoma MONDO:0003301 A cutaneous leiomyoma arising from the dartos muscle of the scrotum or labia majora. dartoic leiomyoma dartoic myoma dartos muscle leiomyoma leiomyoma of dartos muscle dartoic leiomyoma MONDO:0003302 A rare neurofibroma with epithelioid morphology. epithelioid neurofibroma epithelioid neurofibroma MONDO:0003303 A non-metastasizing encapsulated neoplasm arising from nerves in the gallbladder. Morphologically, it is characterized by the presence of fibroblasts and Schwann cells. gall bladder neurofibroma gallbladder neurofibroma neurofibroma of gall bladder neurofibroma of gallbladder neurofibroma of the gallbladder neurofibroma of gallbladder MONDO:0003304 An elongated and multinodular neurofibroma, formed when the tumor involves either multiple trunks of a plexus or multiple fascicles of a large nerve, such as the sciatic. Some plexiform neurofibromas resemble a bag of worms, others produce a massive ropy enlargement of the nerve. (Adapted from WHO.) plexiform neurofibroma (disease) plexiform neurofibroma plexiform neurofibroma (disease) plexiform neurofibroma MONDO:0003305 A neurofibroma characterized by the presence of areas with increased cellularity. cellular neurofibroma cellular neurofibroma MONDO:0003306 A neurofibroma characterized by the presence of cellular pleomorphism. atypical neurofibroma atypical neurofibroma MONDO:0003307 multiple mucosal neuromas multiple mucosal neuroma MONDO:0003308 A neoplasm that arises from the mesothelial cells of the pleura. The primary cause is exposure to asbestos. The major histologic variants are the epithelioid malignant mesothelioma, desmoplastic malignant mesothelioma, and sarcomatoid malignant mesothelioma. Patients present with persistent cough and shortness of breath. mesothelioma of pleura mesothelioma of the pleura pleura mesothelioma pleural mesothelioma pleural mesothelioma (disease) benign pleural mesothelioma pleural mesothelioma (disease), benign pleural mesothelioma MONDO:0003310 A type of arteriosclerosis in which calcification of the tunica media is the predominant feature. Mönckeberg arteriosclerosis Monckeberg arteriosclerosis MONDO:0003311 Neoplasms of the endometrial stroma that sometimes involve the myometrium. These tumors contain cells that may closely or remotely resemble the normal stromal cells. Endometrial stromal neoplasms are divided into three categories: (1) benign stromal nodules; (2) low-grade stromal sarcoma, or endolymphatic stromal myosis; and (3) malignant endometrial stromal sarcoma (sarcoma, endometrial stromal). endometrial stroma neoplasm endometrial stroma tumor endometrial stromal neoplasm endometrial stromal tumor endometrial stromal tumor (morphologic abnormality) neoplasm of endometrial stroma tumor of endometrial stroma endometrial stromal tumor MONDO:0003312 A category of rare neoplasms that arise from the ovary. It includes low grade endometrioid stromal sarcoma and undifferentiated sarcoma. endometrioid stromal and related neoplasms of ovary ovarian endometrioid stromal and related neoplasms ovary endometrioid stromal and related neoplasms ovarian endometrioid stromal sarcoma ovarian endometrioid stromal and related neoplasms MONDO:0003313 A rare sarcoma that arises from the vagina. This category includes low grade endometrioid stromal sarcoma and undifferentiated vaginal sarcoma. endometrioid stromal sarcoma of the vagina endometrioid stromal sarcoma of vagina vagina endometrioid stromal sarcoma vaginal endometrial stromal sarcoma endometrioid stromal sarcoma of the vagina MONDO:0003314 A category of rare neoplasms that arise from the vagina. It includes low grade endometrioid stromal sarcoma and undifferentiated sarcoma. endometrioid stromal and related neoplasms of the vagina endometrioid stromal and related neoplasms of vagina endometrioid stromal and related tumors of the vagina vagina endometrioid stromal and related neoplasms vaginal endometrial stromal tumor endometrioid stromal and related neoplasms of the vagina MONDO:0003315 A carcinoma in situ involving a endometrium. carcinoma in situ of endometrium endometrial carcinoma in situ endometrium in situ carcinoma stage 0 endometrium carcinoma endometrium carcinoma in situ MONDO:0003316 Wilms tumor of the kidney characterized by the absence of nuclear anaplasia. nonanaplastic kidney Wilms tumor nonanaplastic renal Wilm's tumor nonanaplastic renal Wilms tumor nonanaplastic renal Wilms' tumor nonanaplastic kidney Wilms tumor MONDO:0003317 Wilms tumor arising in the remaining kidney following treatment of the original Wilms tumor. metachronous Wilms tumor metachronous Wilms tumor of the kidney metachronous Wilms' tumor metachronous kidney Wilms' tumor MONDO:0003318 Wilms tumor of the kidney characterized by the presence of blastema, epithelial, and mesenchymal components (triphasic pattern) or a combination of two of them (biphasic pattern). Mixed cell type Wilms tumor mixed cell type kidney Wilms tumor mixed cell type kidney adenosarcoma mixed cell type nephroblastoma mixed cell type renal Wilm's tumor mixed cell type renal Wilms tumor mixed cell type renal Wilms' tumor mixed cell type renal adenosarcoma mixed cell type kidney Wilms' tumor MONDO:0003319 A benign or malignant neoplasm that affects the scrotum. neoplasm of scrotum neoplasm of the scrotum scrotal Ca scrotal neoplasm scrotal tumor scrotum neoplasm (disease) scrotum tumor tumor of scrotum tumor of the scrotum malignant scrotal neoplasm malignant tumor of scrotum malignant tumour of scrotum scrotum neoplasm MONDO:0003320 Wilms tumor of the kidney characterized by the predominance of the blastema component. blastema predominant Wilms tumor blastema predominant kidney Wilms tumor blastema predominant kidney adenosarcoma blastema predominant nephroblastoma blastema predominant renal Wilm's tumor blastema predominant renal Wilms tumor blastema predominant renal Wilms' tumor blastema predominant renal adenosarcoma blastema predominant kidney Wilms' tumor blastema predominant kidney Wilms tumor MONDO:0003321 Familial embryonal neoplasm derived from nephrogenic blastemal cells. Several lines of differentiation, including blastemal, stromal and epithelial, are usually expressed. Comprises approximately 1% of Wilms tumors. (AFIP fascicle version 2.0) familial Wilms tumor familial Wilms' tumor hereditary Wilms tumor hereditary Wilms' tumor hereditary kidney adenosarcoma hereditary nephroblastoma hereditary renal adenosarcoma WT1 hereditary Wilms tumor MONDO:0003322 Wilms tumor of the kidney characterized by the predominance of the epithelial component. The epithelial cells may form papillary and tubular patterns and pseudorosettes. epithelial predominant Wilms tumor epithelial predominant kidney Wilms tumor epithelial predominant kidney adenosarcoma epithelial predominant nephroblastoma epithelial predominant renal Wilm's tumor epithelial predominant renal Wilms tumor epithelial predominant renal Wilms' tumor epithelial predominant renal adenosarcoma epithelial predominant Wilms' tumor MONDO:0003325 A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a Schwannian stroma, and the formation of hemorrhagic neuroblastic nodules. ganglioneuroblastoma, nodular nodular ganglioneuroblastoma MONDO:0003326 A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a Schwannian stroma, without the presence of hemorrhagic neuroblastic nodules. ganglioneuroblastoma, intermixed ganglioneuroblastoma, intermixed (Schwannian Stroma-rich) intermixed schwannian stroma-rich ganglioneuroblastoma MONDO:0003327 A ganglioneuroblastoma arising from the peripheral nervous system. PNS ganglioneuroblastoma ganglioneuroblastoma (disease) of peripheral nervous system peripheral ganglioneuroblastoma peripheral nervous system ganglioneuroblastoma peripheral nervous system ganglioneuroblastoma (disease) Editor note: logical definition removed as it leads to equivalency with parent peripheral ganglioneuroblastoma MONDO:0003328 A benign neoplasm that arises from the fallopian tube and originates from mesothelial cells. It is characterized by the presence of gland-like structures that are lined by flat or cuboidal cells. It is usually discovered as an incidental finding. fallopian tube adenomatoid tumor fallopian tube adenomatoid tumor MONDO:0003329 Blockage in any part of the ureter causing obstruction of urine flow from the kidney to the urinary bladder. The obstruction may be congenital, acquired, unilateral, bilateral, complete, partial, acute, or chronic. Depending on the degree and duration of the obstruction, clinical features vary greatly such as hydronephrosis and obstructive nephropathy. ureteral obstruction (disease) ureteral obstruction ureteral obstruction (disease) ureteral obstruction MONDO:0003330 Blockage of the normal flow of contents of the urinary tract. obstructive uropathy urinary obstruction urinary tract obstruction MONDO:0003331 A teratoma that arises from the ovary and is characterized by the presence of tissues derived exclusively from one embryonic germ cell layer. monodermal teratoma monodermal teratoma (morphologic abnormality) ovarian monodermal teratoma ovarian monodermal teratoma MONDO:0003332 An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue with morphologic changes identical to thyroid carcinoma. Patients may present with abdominal mass and unusual symptoms due to thyrotoxicosis, or with Meigs syndrome (ascites and pleural effusion). struma ovarii, malignant struma ovarii, malignant (morphologic abnormality) malignant struma ovarii MONDO:0003333 A mature monodermal teratoma that arises from the ovary and is characterized by the presence of benign, thyroid-type tissues. benign struma ovarii struma ovarii, benign benign struma ovarii MONDO:0003334 Polyneuropathy that is characterized by demyelination of axons. peripheral demyelinating neuropathy demyelinating polyneuropathy MONDO:0003335 Polyneuropathy that is persistent or long-standing in nature. polyneuropathy, chronic chronic polyneuropathy MONDO:0003336 A fulminant and often fatal demyelinating disease of the brain which primarily affects young adults and children. Clinical features include the rapid onset of weakness, seizures, and coma. It may follow a viral illness or mycoplasma pneumoniae infections but in most instances there is no precipitating event. Pathologic examination reveals marked perivascular demyelination and necrosis of white matter with microhemorrhages. (Adams et al., Principles of Neurology, 6th ed, pp924-5) acute necrotizing encephalitis ANE acute necrotizing encephalopathy acute necrotizing encephalitis MONDO:0003337 Acute encephalitis that is characterized by bleeding. acute hemorrhagic encephalitis acute hemorrhagic encephalitis MONDO:0003340 A very rare morphologic variant of glomus tumor with a size greater than 2 cm. The tumor arises in subfascial or visceral tissues. It is characterized by the presence of atypical mitotic figures, or marked nuclear atypia, or the combination of both. It has an aggressive clinical course. glomangiosarcoma glomus tumor, malignant malignant glomus neoplasm malignant glomus tumor malignant glomus tumor MONDO:0003341 A glomus tumor arising in the finger and usually associated with pain. subungual glomus tumor subungual glomus tumor MONDO:0003342 A benign mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels. benign Pericytic neoplasm benign Pericytic tumor benign pericytic neoplasm benign perivascular neoplasm benign perivascular tumor pericytic neoplasm, benign benign perivascular tumor MONDO:0003343 A hemangioblastoma that arises from the retina. It is typically a sign of von Hippel-Lindau disease. It may also be seen as an isolated entity without systemic involvement. hemangioblastoma of vasculature of retina retinal capillary hemangioblastoma retinal hemangioblastoma vasculature of retina hemangioblastoma retinal hemangioblastoma MONDO:0003345 A cholangiocarcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts. Klatskin tumor Klatskin's tumor cholangiocarcinoma of hilar portion of hepatic duct hilar CC hilar CCA hilar cholangiocarcinoma hilar portion of hepatic duct cholangiocarcinoma perihilar extrahepatic bile duct carcinoma hilar cholangiocellular carcinoma perihilar cholangiocarcinoma hilar cholangiocarcinoma https://rarediseases.info.nih.gov/diseases/10175/klatskin-tumor MONDO:0003346 Vasculitis affecting the blood vessels of the brain and/or spinal cord. central nervous system vasculitis vasculitis of central nervous system central nervous system vasculitis MONDO:0003347 A morphologic variant of leiomyosarcoma characterized by the presence of an inflammatory infiltrate admixed with malignant spindle cells. inflammatory leiomyosarcoma inflammatory leiomyosarcoma MONDO:0003348 An uncommon, aggressive malignant smooth muscle neoplasm. It is characterized by the presence of atypical large spindle or round cells, nuclear palisading, tumor cell necrosis, mitotic figures and may be associated with vascular invasion. classic leiomyosarcoma conventional leiomyosarcoma conventional leiomyosarcoma MONDO:0003349 An aggressive malignant smooth muscle neoplasm, arising from the central nervous system. It is characterized by a proliferation of neoplastic spindle cells. CNS leiomyosarcoma central nervous system leiomyosarcoma leiomyosarcoma of CNS leiomyosarcoma of central nervous system leiomyosarcoma of the CNS leiomyosarcoma of the central nervous system central nervous system leiomyosarcoma MONDO:0003350 An aggressive malignant smooth muscle neoplasm. It is characterized by the presence of malignant smooth muscle cells with granular cytoplasmic changes. granular cell leiomyosarcoma granular cell leiomyosarcoma MONDO:0003351 An aggressive malignant smooth muscle neoplasm that arises from the colon. It is characterized by a proliferation of neoplastic spindle cells. colon leiomyosarcoma colonic leiomyosarcoma leiomyosarcoma of colon leiomyosarcoma of the colon colon leiomyosarcoma MONDO:0003352 A malignant soft tissue neoplasm that arises from the colon. Representative examples include angiosarcoma, Kaposi sarcoma, and leiomyosarcoma. colon sarcoma colonic sarcoma sarcoma of colon sarcoma of the colon colon sarcoma MONDO:0003353 An aggressive malignant smooth muscle neoplasm, arising from the heart. It is characterized by a proliferation of neoplastic spindle cells. Cardiac leiomyosarcoma heart leiomyosarcoma leiomyosarcoma of heart leiomyosarcoma of the heart heart leiomyosarcoma MONDO:0003354 A malignant soft tissue neoplasm that arises from the heart. The majority of cases are angiosarcomas. Cardiac sarcoma cardiac sarcoma heart sarcoma sarcoma of heart sarcoma of the heart heart sarcoma MONDO:0003355 An aggressive malignant smooth muscle neoplasm, arising from the ovary. It is characterized by a proliferation of neoplastic spindle cells. leiomyosarcoma of ovary leiomyosarcoma of the ovary ovarian leiomyosarcoma ovary leiomyosarcoma ovary leiomyosarcoma MONDO:0003356 A morphologic variant of leiomyosarcoma characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm. epithelioid leiomyosarcoma epithelioid leiomyosarcoma MONDO:0003357 An aggressive malignant smooth muscle neoplasm, arising from the lung. It is characterized by a proliferation of neoplastic spindle cells. leiomyosarcoma of lung leiomyosarcoma of the lung lung leiomyosarcoma pulmonary leiomyosarcoma lung leiomyosarcoma MONDO:0003358 An aggressive malignant smooth muscle neoplasm, arising from the anus. It is characterized by a proliferation of neoplastic spindle cells. anal leiomyosarcoma anus leiomyosarcoma leiomyosarcoma of anus leiomyosarcoma of the anus anus leiomyosarcoma MONDO:0003359 A morphologic variant of leiomyosarcoma characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma. myxoid leiomyosarcoma myxoid leiomyosarcoma (morphologic abnormality) myxoid leiomyosarcoma MONDO:0003360 An aggressive malignant smooth muscle neoplasm, arising from the small intestine. It is characterized by a proliferation of neoplastic spindle cells. leiomyosarcoma of small bowel leiomyosarcoma of small intestine leiomyosarcoma of the small bowel leiomyosarcoma of the small intestine small bowel leiomyosarcoma small intestinal leiomyosarcoma small intestine leiomyosarcoma smooth muscle connective tissue tumor small intestine leiomyosarcoma MONDO:0003361 A malignant soft tissue neoplasm that arises from the small intestine. Representative examples include leiomyosarcoma, angiosarcoma, and Kaposi sarcoma. sarcoma of small bowel sarcoma of small intestine sarcoma of the small bowel sarcoma of the small intestine sarcoma, small intestinal small bowel sarcoma small intestinal sarcoma small intestine sarcoma small intestinal sarcoma MONDO:0003362 An aggressive malignant smooth muscle neoplasm, arising from the skin. It is characterized by a proliferation of neoplastic spindle cells. cutaneous leiomyosarcoma (disease) cutaneous leiomyosarcoma cutaneous leiomyosarcoma (disease) leiomyosarcoma of skin leiomyosarcoma of the skin leiomyosarcoma of zone of skin skin leiomyosarcoma zone of skin leiomyosarcoma cutaneous leiomyosarcoma MONDO:0003363 A malignant neoplasm involving the dermis. cancer of dermis dermis cancer malignant dermal neoplasm malignant dermis neoplasm malignant dermis tumor malignant neoplasm of dermis malignant neoplasm of the dermis malignant tumor of dermis malignant tumor of the dermis malignant dermis tumor MONDO:0003364 An aggressive malignant smooth muscle neoplasm, arising from the gallbladder. It is characterized by a proliferation of neoplastic spindle cells. gall bladder leiomyosarcoma gallbladder leiomyosarcoma leiomyosarcoma of gall bladder leiomyosarcoma of gallbladder leiomyosarcoma of the gallbladder gallbladder leiomyosarcoma MONDO:0003365 An aggressive malignant smooth muscle neoplasm, arising from the esophagus. It is characterized by a proliferation of neoplastic spindle cells. esophageal leiomyosarcoma esophagus leiomyosarcoma leiomyosarcoma of esophagus leiomyosarcoma of the esophagus esophagus leiomyosarcoma MONDO:0003366 Accumulation of watery fluid in the cavity of a joint. (Dorland, 27th ed) hydrarthrosis MONDO:0003367 An aggressive malignant smooth muscle neoplasm, arising from the stomach. It is characterized by a proliferation of neoplastic spindle cells. gastric leiomyosarcoma (disease) gastric leiomyosarcoma gastric leiomyosarcoma (disease) leiomyosarcoma of stomach stomach leiomyosarcoma gastric leiomyosarcoma MONDO:0003368 An aggressive malignant smooth muscle neoplasm, arising from the prostate. It is characterized by a proliferation of neoplastic spindle cells. leiomyosarcoma of prostate leiomyosarcoma of prostate gland leiomyosarcoma of the prostate prostate gland leiomyosarcoma prostate leiomyosarcoma prostate leiomyosarcoma MONDO:0003369 An aggressive malignant smooth muscle neoplasm, arising from the vagina. It is characterized by a proliferation of neoplastic spindle cells. leiomyosarcoma of the vagina leiomyosarcoma of vagina vagina leiomyosarcoma vaginal leiomyosarcoma vagina leiomyosarcoma MONDO:0003370 An aggressive malignant smooth muscle neoplasm, arising from the retroperitoneum. It is characterized by a proliferation of neoplastic spindle cells. leiomyosarcoma of retroperitoneal space retroperitoneal leiomyosarcoma retroperitoneal space leiomyosarcoma retroperitoneal leiomyosarcoma MONDO:0003371 An aggressive malignant smooth muscle neoplasm, arising from the breast. It is characterized by a proliferation of neoplastic spindle cells. breast leiomyosarcoma leiomyosarcoma of breast leiomyosarcoma of the breast breast leiomyosarcoma MONDO:0003372 An aggressive malignant smooth muscle neoplasm, arising from the vulva. It is characterized by a proliferation of neoplastic spindle cells. leiomyosarcoma of mammalian vulva mammalian vulva leiomyosarcoma vulvar leiomyosarcoma MONDO:0003373 An aggressive malignant smooth muscle neoplasm, arising from the kidney. It is characterized by a proliferation of neoplastic spindle cells. kidney leiomyosarcoma leiomyosarcoma of kidney leiomyosarcoma of the kidney renal leiomyosarcoma kidney leiomyosarcoma MONDO:0003374 An aggressive malignant smooth muscle neoplasm, arising from the larynx. It is characterized by a proliferation of neoplastic spindle cells. laryngeal leiomyosarcoma larynx leiomyosarcoma leiomyosarcoma of larynx leiomyosarcoma of the larynx laryngeal leiomyosarcoma MONDO:0003376 An aggressive malignant smooth muscle neoplasm, arising from the mediastinum. It is characterized by a proliferation of neoplastic spindle cells. leiomyosarcoma of mediastinum leiomyosarcoma of the mediastinum mediastinal leiomyosarcoma mediastinum leiomyosarcoma mediastinum leiomyosarcoma MONDO:0003377 An aggressive malignant smooth muscle neoplasm, arising from an extrahepatic bile duct. It is characterized by a proliferation of neoplastic spindle cells. bile duct leiomyosarcoma extrahepatic bile duct leiomyosarcoma leiomyosarcoma of bile duct leiomyosarcoma of extrahepatic bile duct leiomyosarcoma of the bile duct leiomyosarcoma of the extrahepatic bile duct extrahepatic bile duct leiomyosarcoma MONDO:0003378 An aggressive malignant smooth muscle neoplasm, arising from the liver. It is characterized by a proliferation of neoplastic spindle cells. hepatic leiomyosarcoma leiomyosarcoma of liver leiomyosarcoma of the liver liver leiomyosarcoma liver leiomyosarcoma MONDO:0003379 An aggressive malignant smooth muscle neoplasm that arises from the rectum. It is characterized by a proliferation of neoplastic spindle cells. leiomyosarcoma of rectum leiomyosarcoma of the rectum rectal leiomyosarcoma rectum leiomyosarcoma rectum leiomyosarcoma MONDO:0003381 A disease involving the pituitary gland. disease of pituitary gland disease or disorder of pituitary gland disorder of pituitary gland pituitary disease pituitary gland disease pituitary gland disease or disorder pituitary gland disorder pituitary gland disorder MONDO:0003382 A disease involving the eyelid. disease of eyelid disease or disorder of eyelid disorder of eyelid eyelid disease eyelid disease or disorder eyelid disorder eyelid disorder MONDO:0003383 A rare adenocarcinoma of the fallopian tube composed of malignant glandular epithelium containing clear cells. clear cell adenocarcinoma of fallopian tube clear cell adenocarcinoma of the fallopian tube clear cell carcinoma of fallopian tube clear cell carcinoma of the fallopian tube fallopian tube clear cell adenocarcinoma fallopian tube clear cell carcinoma fallopian tube clear cell adenocarcinoma MONDO:0003384 A clear cell adenocarcinoma of the uterine ligament composed mainly of clear or hobnob cells. The clear cells are large, bizarre, and multinucleated. uterine ligament clear cell adenocarcinoma uterine ligament clear cell adenocarcinoma MONDO:0003386 A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells distributed in a tubulo-cystic, papillary, or diffuse pattern. There is a female predilection. Clinical presentation includes hematuria and dysuria. bladder clear cell adenocarcinoma bladder mesonephric adenocarcinoma urinary bladder clear cell adenocarcinoma clear cell adenocarcinoma of bladder clear cell adenocarcinoma of the bladder clear cell adenocarcinoma of the urinary bladder clear cell adenocarcinoma of urinary bladder bladder clear cell adenocarcinoma MONDO:0003387 A morphologic variant of urethral adenocarcinoma characterized by the presence of tubulocystic or papillary structures lined with clear cuboidal or hobnail cells. clear cell adenocarcinoma of the urethra clear cell adenocarcinoma of urethra urethra clear cell adenocarcinoma urethral clear cell adenocarcinoma urethra clear cell adenocarcinoma MONDO:0003388 A carcinoma with glandular differentiation arising from the ampulla of Vater. Morphologically, it is characterized by the presence of glycogen-rich cells with hyperchromatic nuclei. ampulla of Vater clear cell adenocarcinoma hepatopancreatic ampulla clear cell adenocarcinoma ampulla of vater clear cell adenocarcinoma MONDO:0003389 A malignant neoplasm which occurs mostly in the major salivary glands (most frequently in the parotid gland), but also in the minor salivary glands of the oral mucosa and the tracheobronchial tree. It is characterized by the presence of ductal structures which are lined by an inner layer of cuboidal epithelial-type cells and an outer layer of myoepithelial cells with clear or eosinophilic cytoplasm. epithelial-myoepithelial carcinoma EMYOCA epithelial-myoepithelial carcinoma MONDO:0003390 An uncommon, usually aggressive adenocarcinoma of the breast characterized by the presence of clear cells that contain glycogen. https://github.com/monarch-initiative/mondo/issues/3710 glycogen-rich carcinoma glycogen-rich carcinoma (morphologic abnormality) glycogen-rich, clear cell breast carcinoma glycogen-rich clear cell breast carcinoma MONDO:0003391 An alveolar soft part sarcoma arising from the vulva. vulvar alveolar soft part sarcoma MONDO:0003392 A rare germ cell tumor that affects the fallopian tube. The vast majority of cases are teratomas. fallopian tube germ cell neoplasm fallopian tube germ cell tumor fallopian tube germ cell cancer fallopian tube germ cell tumor MONDO:0003393 A non-neoplastic or neoplastic disorder that affects the thymus. Representative examples include thymic hyperplasia, thymoma, and thymic carcinoma. Thymus disorder disease of thymus disease of thymus gland disease or disorder of thymus disorder of thymus disorder of thymus gland thymus disease thymus disease or disorder thymus disorder thymus gland disorder MONDO:0003394 A disease involving the dental pulp. dental pulp disease dental pulp disease or disorder dental pulp disorder disease of dental pulp disease or disorder of dental pulp disorder of dental pulp disorder of pulp of tooth pulp disorder dental pulp disorder MONDO:0003395 A rare sex cord-stromal tumor that arises from the testis. It is characterized by the presence of granulosa-like cells and Call-Exner bodies. There are two variants described, the adult and the juvenile. granulosa cell tumor of testis testicular granulosa cell tumor testis granulosa cell tumor granulosa cell neoplasm of testis granulosa cell neoplasm of the testis granulosa cell tumor of the testis testicular granulosa cell neoplasm testicular granulosa cell tumor MONDO:0003396 A non-neoplastic nodular lesion that arises from the gingiva. epulides gingiva polyp gingival polyp gum polyp polyp of gingiva polyp of gum polyp of the gingiva polyp of the gum epulis MONDO:0003397 Abnormal enlargement or overgrowth of the gingivae brought about by enlargement of existing cells. hypertrophy of gingivae gingival hypertrophy MONDO:0003398 Loss of the ability to form new memories beyond a certain point in time. This condition may be organic or psychogenic in origin. Organically induced anterograde amnesia may follow craniocerebral trauma; seizures; anoxia; and other conditions which adversely affect neural structures associated with memory formation (e.g., the hippocampus; fornix (brain); mammillary bodies; and anterior thalamic nuclei). (From Memory 1997 Jan-Mar;5(1-2):49-71) anterograde amnesia MONDO:0003399 A yolk sac tumor that involves the pineal body. pineal body yolk sac tumor pineal region yolk Sac neoplasm pineal region yolk sac tumor endodermal sinus tumor of pineal region endodermal sinus tumor of the pineal region pineal endodermal sinus neoplasm pineal endodermal sinus tumor pineal region endodermal sinus neoplasm pineal region endodermal sinus tumor yolk Sac tumor of pineal region yolk Sac tumor of the pineal region pineal region yolk sac tumor MONDO:0003400 A yolk sac tumor that occurs during childhood. childhood endodermal sinus neoplasm childhood endodermal sinus tumor pediatric yolk Sac tumor childhood yolk Sac neoplasm childhood yolk Sac tumor pediatric endodermal sinus neoplasm pediatric yolk Sac neoplasm childhood endodermal sinus tumor MONDO:0003401 A yolk sac tumor that arises from the central nervous system and occurs during childhood. central nervous system yolk Sac tumor central nervous system yolk sac tumor childhood central nervous system yolk Sac neoplasm childhood central nervous system yolk Sac tumor pediatric central nervous system yolk Sac neoplasm pediatric central nervous system yolk Sac tumor yolk Sac tumor of the CNS central nervous system endodermal sinus tumor childhood central nervous system endodermal sinus neoplasm childhood central nervous system endodermal sinus tumor pediatric central nervous system endodermal sinus neoplasm central nervous system endodermal sinus tumor MONDO:0003402 A non-seminomatous malignant germ cell tumor arising from the testis. It affects infants, young children, and postpubertal males. It is the most frequently seen testicular neoplasm during childhood. The vast majority of patients present with an asymptomatic scrotal mass. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). It metastasizes to distant anatomic sites. Prognostic factors relate to the clinical stage and the degree of AFP elevation. testicular yolk Sac neoplasm testicular yolk sac tumor testis yolk sac tumor Orchidoblastoma endodermal sinus neoplasm of testis endodermal sinus neoplasm of the testis endodermal sinus tumor of testis endodermal sinus tumor of the testis endodermal-sinus tumor testicular endodermal sinus neoplasm testicular endodermal sinus tumor yolk Sac neoplasm of testis yolk Sac neoplasm of the testis yolk Sac tumor of testis yolk Sac tumor of the testis yolk sac tumor testicular yolk sac tumor MONDO:0003403 A classification of testicular cancers that arise in specialized sex cells called germ cells. Nonseminomas include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac tumor. malignant non-seminomatous germ cell cancer of testis malignant non-seminomatous germ cell cancer of the testis malignant non-seminomatous germ cell neoplasm of testis malignant non-seminomatous germ cell neoplasm of the testis malignant non-seminomatous germ cell tumor of testis malignant non-seminomatous germ cell tumor of the testis malignant testicular non-seminomatous germ cell neoplasm malignant testicular non-seminomatous germ cell tumor testicular germ cell tumor non-seminomatous, malignant testicular non-seminomatous germ cell cancer testicular non-seminomatous germ cell tumor, malignant testicular non-seminomatous malignant germ cell neoplasm Editor note: TODO owldef testicular non-seminomatous germ cell cancer MONDO:0003404 A yolk sac tumor that occurs in an adult. yolk Sac tumor adult endodermal sinus neoplasm adult endodermal sinus tumor adult yolk Sac neoplasm adult yolk Sac tumor yolk sac tumor of adults adult yolk sac tumor MONDO:0003405 A germ cell tumor of the central nervous system occurring in adults. central nervous system germ cell tumor adult CNS germ cell neoplasm adult CNS germ cell tumor adult central nervous system germ cell neoplasm adult central nervous system germ cell tumor central nervous system germ cell tumor of adults germ cell neoplasm of adult CNS germ cell neoplasm of adult central nervous system germ cell neoplasm of the adult CNS germ cell neoplasm of the adult central nervous system germ cell tumor of adult CNS germ cell tumor of adult central nervous system germ cell tumor of the adult CNS germ cell tumor of the adult central nervous system central nervous system adult germ cell tumor adult central nervous system germ cell tumor MONDO:0003406 Abnormal sleep-wake schedule or pattern associated with the circadian rhythm which affect the length, timing, and/or rigidity of the sleep-wake cycle relative to the day-night cycle. disorder of sleep-wake cycle sleep wake disorder Subwakefullness syndrome Subwakefullness syndromes Tachypneas, sleep-related neurogenic circadian dysregulation disorder of sleep-wake schedule disorder, sleep disorder, sleep wake disorders of the sleep-wake schedule disorders, sleep disorders, sleep wake disturbed nyctohemeral rhythm long sleeper syndrome long sleeper syndromes neurogenic Tachypneas, sleep-related neurogenic tachypnea, sleep-related non-organic sleep disorder phenotype, short sleep phenotypes, short sleep short sleep phenotype short sleep phenotypes short sleeper syndrome short sleeper syndromes sleep disorder sleep disorders sleep phenotypes, short sleep related neurogenic tachypnea sleep-related neurogenic Tachypneas sleep-related neurogenic tachypnea sleeper syndrome, long sleeper syndrome, short sleeper syndromes, long sleeper syndromes, short syndrome, Subwakefullness syndrome, long sleeper syndrome, short sleeper syndromes, Subwakefullness syndromes, long sleeper syndromes, short sleeper tachypnea, sleep-related neurogenic wake disorder, sleep wake disorders, sleep sleep-wake disorder MONDO:0003408 A malignant tumor that arises from the ovary and is characterized by the presence of malignant germ cell components but lacks a teratoma component. ovarian primitive germ cell tumor ovarian primitive germ cell tumor MONDO:0003409 Pathological processes in the colon region of the large intestine (intestine, large). colon disease colon disease or disorder colon disorder disease of colon disease or disorder of colon disorder of colon colonic disorder MONDO:0003410 A cervical adenocarcinoma that arises from mesonephric remnants. It is usually characterized by the presence of tubular glands lined by cuboidal epithelial cells. Wolffian duct adenocarcinoma cervical mesonephric adenocarcinoma mesonephric duct adenocarcinoma Wolffian duct adenocarcinoma MONDO:0003411 A hemangiopericytoma arising from the breast. breast hemangiopericytoma breast spindle cell tumor Editor note: check SFT/hemangiopericytoma/spindle cell tumor breast hemangiopericytoma MONDO:0003412 A benign or malignant hemangiopericytoma arising from the retroperitoneum. retroperitoneal space hemangiopericytoma Editor note: check SFT/hemangiopericytoma/spindle cell tumor retroperitoneal hemangiopericytoma MONDO:0003413 A benign or malignant neoplasm arising from the hair follicle. hair follicle neoplasm hair follicle neoplasm (disease) hair follicle tumor neoplasm of hair follicle neoplasm of the hair follicle tumor of hair follicle hair matrix neoplasm hair matrix tumor hair matrix tumour hair follicle neoplasm MONDO:0003414 A very rare, locally aggressive, malignant neoplasm of the hair follicle. The majority of the cases arise de novo, however malignant transformation from a pre-existing pilomatricoma has been reported. It usually presents as a solitary nodule in the head and neck, upper extremities, or buttocks. Morphologically, it is characterized by the presence of aggregates of basaloid cells infiltrating the dermis. Masses of ghost cells are present in the cellular aggregates. Complete surgical excision is the treatment of choice. If it is not completely removed, it usually recurs, but it rarely metastasizes to distant anatomic sites. Pilomatrical carcinoma Trichomatrical carcinoma calcified epithelial carcinoma of Malherbe calcifying epitheliocarcinoma invasive pilomatrixoma malignant pilomatricoma matrical carcinoma pilomatricoma, malignant pilomatrix carcinoma pilomatrix carcinoma of skin pilomatrix carcinoma of the skin pilomatrix skin carcinoma skin pilomatrix carcinoma MONDO:0003417 internuclear ophthalmoplegia MONDO:0003419 A rare, benign neoplasm that arises from the Bartholin gland and is characterized by the presence of clustered glands and tubules lined by mucin-secreting epithelial cells. Bartholin gland adenoma Bartholin's gland adenoma major vestibular gland adenoma Bartholin gland adenoma MONDO:0003420 An epithelial, usually multiloculated neoplasm arising from the intrahepatic or extrahepatic bile ducts. It occurs predominantly in females. Signs and symptoms include abdominal mass, abdominal pain, and jaundice. Morphologically, the cystic spaces are lined by columnar epithelium and contain mucinous or serous fluid. bile duct cystadenoma bile duct cystadenoma (morphologic abnormality) bile duct mucinous cystic neoplasm cystadenoma of bile duct cystadenoma of the bile duct bile duct cystadenoma MONDO:0003421 An adenoma characterized by the presence of a mixed epithelial cell population. mixed cell adenoma mixed cell adenoma MONDO:0003422 A benign, well circumscribed epithelial neoplasm that arises from the bronchus or the lung parenchyma. Representative examples include alveolar adenoma, papillary adenoma, and mucus gland adenoma. adenoma of lung adenoma of the lung lung adenoma pulmonary adenoma lung adenoma MONDO:0003423 A benign, well-circumscribed glandular neoplasm that arises from the middle ear and may exhibit neuroendocrine differentiation. It usually presents with conductive hearing loss. adenoma of the middle ear middle ear adenoma adenoma of middle ear middle ear adenoma MONDO:0003424 A benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic adenomas of the thyroid gland, parathyroid gland, and pituitary gland. follicular adenoma, oxyphilic cell oncocytic adenoma oncocytoma oxyphilic adenoma oncocytic adenoma MONDO:0003425 Weakness or paralysis of at least one of the muscles controlling the movement of the eye. It results from degeneration of the muscles or the neural pathways involved in the eye movement. Representative disorders causing ophthalmoplegia include ocular myopathies and multiple sclerosis. total ophthalmoplegia oculomotor paralysis ophthalmoplegia MONDO:0003426 A benign neoplasm composed of glands containing epithelial clear cells. adenoma, clear cell, benign clear cell adenoma clear cell adenoma (morphologic abnormality) clear cell adenoma MONDO:0003427 A benign lung neoplasm characterized by the presence of a fibrovascular stroma lined by cuboidal to columnar cells. Patients are usually asymptomatic and it is incidentally discovered as a pulmonary nodule during chest X-ray examination. Surgical excision is curative. adenoma of bronchus adenoma of the bronchus adenoma, bronchial, benign bronchial adenoma bronchial adenoma NOS (morphologic abnormality) bronchus adenoma lung papillary adenoma papillary adenoma of type II pneumocytes peripheral papillary tumor of type II pneumocytes type II pneumocyte adenoma bronchus adenoma MONDO:0003428 A hemangioma arising from the brain. brain angioma brain hemangioma brain hemangioma MONDO:0003429 A hormone producing pituitary gland adenoma, associated with a hormonal syndrome. endocrine active pituitary adenoma functioning adenoma of pituitary functioning adenoma of pituitary gland functioning adenoma of the pituitary functioning adenoma of the pituitary gland functioning pituitary adenoma functioning pituitary gland adenoma functioning pituitary gland adenoma (benign) secreting pituitary adenoma secretory adenoma of pituitary secretory adenoma of pituitary gland secretory adenoma of the pituitary secretory adenoma of the pituitary gland secretory pituitary adenoma secretory pituitary gland adenoma functioning pituitary gland adenoma MONDO:0003430 An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces prolactin. PRL producing pituitary gland neoplasm prolactin producing neoplasm of pituitary prolactin producing neoplasm of pituitary gland prolactin producing neoplasm of the pituitary prolactin producing neoplasm of the pituitary gland prolactin producing pituitary gland neoplasm prolactin producing pituitary gland tumor prolactin producing pituitary neoplasm prolactin producing pituitary tumor prolactin producing pituitary tumour prolactin producing tumor of pituitary prolactin producing tumor of pituitary gland prolactin producing tumor of the pituitary prolactin producing tumor of the pituitary gland prolactin secreting neoplasm of pituitary prolactin secreting neoplasm of pituitary gland prolactin secreting neoplasm of the pituitary prolactin secreting neoplasm of the pituitary gland prolactin secreting pituitary gland neoplasm prolactin secreting pituitary gland tumor prolactin secreting pituitary neoplasm prolactin secreting pituitary tumor prolactin secreting tumor of pituitary prolactin secreting tumor of pituitary gland prolactin secreting tumor of the pituitary prolactin secreting tumor of the pituitary gland prolactin-producing pituitary gland neoplasm prolactin-producing pituitary gland tumor malignant prolactin producing neoplasm of pituitary gland malignant prolactinoma prolactin producing pituitary tumor MONDO:0003431 An adenoma in which the neoplastic epithelial cells are admixed with adipose tissue cells. adenolipoma, benign lipoadenoma lipoadenoma (morphologic abnormality) lipoadenoma MONDO:0003432 Strabismus is the intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object as the other eye. Strabismus is caused by an imbalance in the extraocular muscles which control the positioning of the eyes. Strabismus is normal in newborns but should resolve by the time the baby is 6 months old. In older children with strabismus, the brain may learn to ignore the input from one eye, and this may lead to amblyopia, a potentially permanent decrease in vision in that eye if not corrected. squint strabismus strabismus MONDO:0003433 A rare parathyroid gland adenoma composed of neoplastic cells with abundant cytoplasm. The cytoplasm of the neoplastic cells is usually not entirely clear, and is often variably vacuolated, foamy, and granular. parathyroid gland water-clear cell adenoma water-clear cell adenoma (morphologic abnormality) water-clear cell adenoma MONDO:0003434 A glandular epithelial neoplasm that arises from the vagina and shows intestinal differentiation. vagina adenoma vaginal adenoma vaginal adenoma MONDO:0003435 A benign epithelial neoplasm characterized by a microcystic pattern. The cystic spaces are lined by small cuboidal cells without evidence of significant cytologic atypia. microcystic adenoma microcystic adenoma (morphologic abnormality) microcystic adenoma MONDO:0003437 A small cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed. occult small cell carcinoma of lung occult small cell carcinoma of the lung occult small cell lung carcinoma lung occult small cell carcinoma occult small cell lung carcinoma MONDO:0003438 A morphologic variant of small cell lung carcinoma in combination with a non-small cell carcinoma. combined small and large cell lung cancer combined small and large cell lung carcinoma combined small cell and large cell lung carcinoma combined small cell carcinoma of lung combined small cell carcinoma of the lung combined small cell lung cancer combined small cell lung carcinoma combined type small cell carcinoma of lung combined type small cell carcinoma of the lung combined type small cell lung carcinoma mixed small cell and large cell carcinoma of lung mixed small cell and large cell carcinoma of the lung mixed small cell and large cell lung carcinoma small cell and large cell carcinoma of lung small cell and large cell carcinoma of the lung small cell and large cell lung carcinoma CSCLC lung combined type small cell carcinoma combined small cell lung carcinoma MONDO:0003439 An exophytic glandular neoplasm of the bladder, morphologically similar to its intestinal counterpart. It often coexists with in situ or infiltrating bladder adenocarcinoma. bladder villous adenoma urinary bladder villous adenoma villous adenoma of the urinary bladder villous adenoma of urinary bladder urinary bladder villous adenoma MONDO:0003441 A movement disorder characterized by sustained or intermittent muscle contractions, resulting in abnormal movements and/or postures. dystonia dystonic disease dystonic disorder dystonia disorder dystonia disorders dystonic disorder MONDO:0003442 A papillary epithelial neoplasm that involves the urinary bladder urothelium. bladder papillary transitional cell neoplasm bladder papillary urothelial neoplasm urinary bladder papillary transitional cell neoplasm urinary bladder papillary urothelial neoplasm urinary bladder urothelium papillary epithelial neoplasm bladder papillary urothelial neoplasm MONDO:0003443 A neoplastic lesion of the urinary tract transitional cell epithelium characterized by papillary formations. -- 2003 papillary transitional cell neoplasm of the urinary tract papillary urothelial neoplasm urinary tract papillary transitional cell neoplasm urothelium papillary epithelial neoplasm inverted papilloma of urinary tract urinary tract papillary transitional cell benign neoplasm papillary urothelial neoplasm MONDO:0003444 A rare adenoma that arises from the intrahepatic biliary tree. adenoma of the intrahepatic bile duct adenoma, HEPATOCHOLANGIOCELLULAR, benign intrahepatic bile duct adenoma adenoma of intrahepatic bile duct intrahepatic bile duct adenoma MONDO:0003445 An adenoma that arises from the extrahepatic bile ducts. It is classified as papillary, tubular, or tubulopapillary. adenoma of extrahepatic bile duct adenoma of the extrahepatic bile duct extrahepatic bile duct adenoma extrahepatic bile duct adenoma MONDO:0003446 A benign neoplasm arising from the sweat glands. It presents as a slow growing cystic nodular lesion most often in the skin of the vulva and the perianal region. It is characterized by the presence of cystic and large papillary structures. The papillary structures contain connective tissue and are covered by two layers of epithelium. Complete excision is curative. hidradenoma papilliferum papillary hidradenoma MONDO:0003447 An uncommon benign neoplasm of the sweat glands characterized by the presence of clear cells. clear cell hidradenoma clear cell hidradenoma (morphologic abnormality) clear cell myoepithelioma clear cell hidradenoma MONDO:0003448 A benign epithelial neoplasm with eccrine or apocrine differentiation, arising from the sweat glands. It usually presents as a solitary, well circumscribed, firm nodule in the face and upper trunk. It is characterized by the presence of basaloid cells forming nodules in the dermis. Cases of carcinoma arising from long standing spiradenomas have been reported. spiradenoma benign eccrine spiradenoma eccrine spiradenoma eccrine spiradenoma (morphologic abnormality) eccrine spiradenoma of skin spiroma/spiradenoma Spiradenomas are usually benign. Malignant forms are rare. benign spiradenoma MONDO:0003450 A benign neoplasm arising from the sweat glands. It is characterized by the presence of eccrine ducts in the dermis containing intraluminal papillary projections. Papillary eccrine adenoma eccrine papillary adenoma of skin eccrine papillary adenoma https://rarediseases.info.nih.gov/diseases/10463/papillary-eccrine-adenoma MONDO:0003452 Pathological processes of the snail-like structure (cochlea) of the inner ear (labyrinth) which can involve its nervous tissue, blood vessels, or fluid (endolymph). cochlea disease cochlea disease or disorder disease of cochlea disease or disorder of cochlea disorder of cochlea cochlear disorder MONDO:0003453 conjunctiva intraepithelial neoplasia conjunctival intraepithelial neoplasia intraepithelial neoplasia of conjunctiva intraepithelial neoplasia of the conjunctiva conjunctival intraepithelial neoplasm MONDO:0003454 A malignant neoplasm involving the conjunctiva. cancer of conjunctiva conjunctival tumor conjunctiva cancer malignant conjunctiva neoplasm malignant conjunctiva tumor malignant conjunctival neoplasm malignant conjunctival tumor malignant neoplasm of conjunctiva malignant neoplasm of conjunctiva (primary) malignant neoplasm of the conjunctiva malignant tumor of conjunctiva malignant tumor of the conjunctiva conjunctival cancer MONDO:0003455 A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the intrahepatic or extrahepatic bile ducts. IPN bile duct papillary epithelial neoplasm bile duct papillary neoplasm bile duct papillomatosis biliary papillomatosis intraductal papillary neoplasm bile duct papillary neoplasm MONDO:0003458 A usually polypoid, benign neoplasm that arises from the endometrial cavity. It is characterized by the presence of a mesenchymal core component and an epithelial component that forms a lining on the mesenchymal core. adenofibroma of body of uterus adenofibroma of corpus uteri adenofibroma of the body of uterus adenofibroma of the corpus uteri adenofibroma of the uterine body adenofibroma of the uterine corpus adenofibroma of uterine body body of uterus adenofibroma corpus uteri adenofibroma uterine body adenofibroma adenofibroma of uterine corpus uterine corpus adenofibroma MONDO:0003459 A benign, polypoid neoplasm that arises from the cervix. It is characterized by the presence of epithelial and mesenchymal elements. cervical adenofibroma MONDO:0003460 A benign neoplasm characterized by the presence of glandular structures which contain clear cells and a fibrotic stroma. clear cell adenofibroma clear cell adenofibroma (morphologic abnormality) clear cell adenofibroma MONDO:0003461 A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder. The tumors are round and solitary and contain connective tissue and papillary or tubular structures lined by serous-type epithelium. fallopian tube adenofibroma fallopian tube serous adenofibroma serous adenofibroma of fallopian tube fallopian tube serous adenofibroma MONDO:0003462 A biphasic polypoid neoplasm characterized by the presence of papillary projections that are lined by epithelial cells and fibrotic stroma. papillary adenofibroma papillary adenofibroma MONDO:0003463 A benign neoplasm of the ovary characterized by the presence of glandular structures with endometrial-type well-differentiated cells in a fibrotic stroma. ovarian endometrioid adenofibroma ovarian endometrioid adenofibroma MONDO:0003464 A benign or borderline neoplasm that arises from the ovaries and the fallopian tubes. It is characterized by the presence of cystic glandular structures and fibrous tissue. cystadenofibroma cystadenofibroma MONDO:0003465 fibrous sarcoma of synovium fibrous sarcoma of the synovium fibrous synovial sarcoma MONDO:0003466 A synovial sarcoma characterized by the presence of a spindle cell component only. synovial sarcoma with spindle cell components synovial sarcoma, monophasic fibrous spindle cell synovial sarcoma MONDO:0003467 A synovial sarcoma arising from the mediastinum. mediastinal synovial sarcoma mediastinum synovial sarcoma (disease) synovial sarcoma of mediastinum synovial sarcoma of the mediastinum mediastinum synovial sarcoma MONDO:0003468 A synovial sarcoma characterized by the presence of both an epithelial and a spindle cell component. biphasic sarcoma of synovium biphasic sarcoma of the synovium synovial sarcoma, biphasic synovial sarcoma, biphasic (morphologic abnormality) biphasic synovial sarcoma MONDO:0003469 A synovial sarcoma characterized by the presence of an epithelial cell component only. The epithelial cells are arranged in glandular or papillary structures. epithelial sarcoma of synovium epithelial sarcoma of the synovium epithelial synovial sarcoma epithelioid cell sarcoma of synovium epithelioid cell sarcoma of the synovium epithelioid synovial sarcoma synovial sarcoma, epithelioid cell synovial sarcoma, epithelioid cell (morphologic abnormality) epithelioid cell synovial sarcoma MONDO:0003470 An ependymoma which shows conspicuous cellularity without a significant increase in mitotic rate. (Adapted from WHO) cellular ependymoma MONDO:0003471 A infectious disease involving Pediculus humanus capitis. Pediculus capitis Pediculus capitis [head louse] Pediculus capitis infestation Pediculus humanus capitis infection head louse infestation pediculosis capitis infections, Pediculus humanus capitis Pediculus humanus capitis infestation MONDO:0003472 A contagious infestation of parasitic insects found on the head (Pediculus humanus capitis), body (Pediculus humanus corporis), or pubic area (Pthirus pubis) that typically cause itching and rash. Pediculus humanus infection infestation by Pediculus louse infestation louse infestation (& [pediculosis and Phthirus] or [lice]) mixed pediculosis mixed pediculosis infestation pediculosis pediculosis + lice pediculosis and Phthirus infection pediculosis and Phthirus infections pediculosis and Phthirus infestation pediculosis, unspecified infections, Pediculus humanus lice infestation MONDO:0003473 An ependymoma that arises from the spinal cord. ependymal neoplasm of the spinal cord ependymoma of spinal cord ependymoma of the spinal cord spinal cord ependymoma spinal cord ependymoma MONDO:0003474 A variant of ependymoma, often found in the spinal cord, with tumor cells arranged in fascicles of variable width and cell density. Ependymal rosettes are generally absent, so this lesion must be distinguished from astrocytic neoplasms, but its EM characteristics are ependymal. (Adapted from WHO.) tanycytic ependymoma tanycytic ependymoma MONDO:0003475 A rare variant of ependymoma characterized by well formed papillae. Tumor cell processes abutting capillaries are usually GFAP-positive. Differential diagnoses include choroid plexus papilloma, papillary meningioma and metastatic papillary carcinoma. (Adapted from WHO) papillary ependymoma papillary ependymoma MONDO:0003476 An ependymoma, often supratentorial in location, characterized by the presence of ependymal cells with a perinuclear halo. clear cell ependymoma clear cell ependymoma MONDO:0003477 An ependymoma that arises from the brain stem. brain stem ependymoma brainstem ependymoma ependymoma of brain stem ependymoma of brainstem ependymoma of the brain stem ependymoma of the brainstem brain stem ependymoma MONDO:0003478 An ependymoma that arises from the central nervous system and occurs during childhood. ependymoma childhood ependymoma ependymoma of childhood pediatric ependymoma childhood ependymoma MONDO:0003479 A pneumonia that is an acute inflammation of the lungs induced by inhalation of metal fumes or toxic gases and vapors. It is a sentinel health event (occupational) associated with exposure to ammonia (refrigeration, fertilizer, and oil refining industries), chlorine (alkali and bleach industries), nitrogen oxides (silo fillers, arc welders, and nitric acid industry), sulfur dioxide (paper, refrigeration, and oil refining industries), cadmium (processors and cadmium smelters), trimellitic anhydride (plastics and organic chemical synthesis), and vanadium pentoxide (boilermakers). The two types of pulmonary agents are central and peripheral. Central pulmonary agents, for example, ammonia, are water soluble irritants that injure the upper airways. Peripheral pulmonary agents, for example, phosgene, NOx, and PFIB, are slightly water soluble irritants that injure the alveolar-capillary membranes. Chlorine has both central and peripheral effects. acute chemical fume pulmonary edema acute chemical pulmonary edema toxic pneumonitis MONDO:0003480 A dysgerminoma (disease) that involves the pineal body. pineal body dysgerminoma (disease) pineal dysgerminoma pineal region dysgerminoma pineal region dysgerminoma MONDO:0003481 A malignant germ cell tumor arising from the ovary. Morphologically, it is identical to seminoma and consists of a monotonous population of germ cells with abundant pale cytoplasm and uniform nuclei. The stroma invariably contains chronic inflammatory cells, mostly T-lymphocytes. It responds to chemotherapy or radiotherapy and the prognosis relates to the tumor stage. dysgerminoma of ovary dysgerminoma of the ovary germ cell dysgerminoma of ovary germ cell dysgerminoma of the ovary ovarian dysgerminoma ovarian germ cell dysgerminoma ovary dysgerminoma (disease) dysgerminoma dysgerminoma of ovary MONDO:0003482 A infectious disease involving the Pediculus humanus corporis. Pediculus corporis Pediculus corporis [body louse] Pediculus humanus corporis infection Pediculus humanus infestation body louse infestation infections, Pediculus humanus corporis Pediculus humanus corporis infestation MONDO:0003486 A squamous cell carcinoma characterized by the presence of cells with hyperchromatic nuclei, scant amount of cytoplasm, and peripheral nuclear palisading. basaloid carcinoma basaloid carcinoma (morphologic abnormality) basaloid squamous cell carcinoma basaloid squamous cell carcinoma (morphologic abnormality) basaloid squamous cell carcinoma MONDO:0003487 A squamous cell carcinoma characterized by the formation of gland-like structures. adenoid squamous carcinoma adenoid squamous cell carcinoma adenoid squamous cell carcinoma (morphologic abnormality) pharyngeal tonsil squamous cell carcinoma pseudoglandular epidermoid carcinoma pseudoglandular epidermoid cell carcinoma pseudoglandular squamous carcinoma pseudoglandular squamous cell carcinoma acantholytic squamous cell carcinoma adenoacanthoma adenocarcinoma with squamous metaplasia adenocarcinoma with squamous metaplasia (morphologic abnormality) pseudoglandular squamous cell carcinoma MONDO:0003490 A carcinoma with squamous differentiation arising from the ampulla of Vater. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss. ampulla of Vater squamous cell carcinoma hepatopancreatic ampulla squamous cell carcinoma ampulla of vater squamous cell carcinoma MONDO:0003492 A squamous cell carcinoma that involves the lacrimal gland. epidermoid carcinoma of lacrimal gland epidermoid carcinoma of the lacrimal gland lacrimal gland epidermoid carcinoma lacrimal gland squamous cell carcinoma squamous cell carcinoma of lacrimal gland squamous cell carcinoma of the lacrimal gland lacrimal gland squamous cell carcinoma MONDO:0003493 A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation. Thymus squamous cell carcinoma epidermoid thymic carcinoma squamous cell carcinoma of Thymus squamous cell carcinoma of the Thymus thymic squamous cell carcinoma thymus squamous cell carcinoma thymus squamous cell carcinoma MONDO:0003494 A usually high grade squamous cell carcinoma that arises from the ovary and is not associated with a germ cell tumor. The prognosis is poor. ovarian squamous cell cancer ovarian squamous cell carcinoma ovary squamous cell carcinoma ovarian squamous cell carcinoma MONDO:0003495 A squamous cell tumor that arises from the ovary and is not associated with a germ cell tumor. ovarian squamous cell neoplasm ovarian squamous cell tumor ovary squamous cell neoplasm ovarian squamous cell neoplasm MONDO:0003497 A squamous cell carcinoma that involves the renal pelvis. epidermoid carcinoma of kidney pelvis epidermoid carcinoma of renal pelvis epidermoid carcinoma of the kidney pelvis epidermoid carcinoma of the renal pelvis kidney pelvis epidermoid carcinoma kidney pelvis squamous cell carcinoma kidney renal pelvis squamous cell cancer renal pelvis epidermoid carcinoma renal pelvis squamous cell cancer renal pelvis squamous cell carcinoma squamous cell carcinoma of kidney pelvis squamous cell carcinoma of renal pelvis squamous cell carcinoma of the kidney pelvis squamous cell carcinoma of the renal pelvis renal pelvis squamous cell carcinoma MONDO:0003499 A squamous cell carcinoma of the skin with a prominent spindle cell component. spindle cell (sarcomatoid) squamous cell skin carcinoma spindle cell squamous carcinoma of skin spindle cell squamous carcinoma of the skin spindle cell squamous cell carcinoma spindle cell (sarcomatoid) squamous cell carcinoma sarcomatoid squamous cell skin carcinoma MONDO:0003500 A squamous cell carcinoma that involves the bile duct. bile duct squamous cell carcinoma squamous cell bile duct carcinoma MONDO:0003501 A squamous cell carcinoma that arises from the skin of the external ear. epidermoid carcinoma of external Ear epidermoid carcinoma of the external Ear epidermoid carcinoma of the external ear external Ear epidermoid carcinoma external Ear squamous cell carcinoma external ear squamous cell carcinoma squamous cell carcinoma of external Ear squamous cell carcinoma of the external Ear squamous cell carcinoma of external ear external ear squamous cell carcinoma MONDO:0003502 A rare squamous cell carcinoma that arises from the ureter. epidermoid carcinoma of the ureter epidermoid carcinoma of ureter squamous cell carcinoma of the ureter squamous cell carcinoma of ureter ureter epidermoid carcinoma ureter squamous cell carcinoma ureteral epidermoid carcinoma ureteral squamous cell carcinoma ureter squamous cell carcinoma MONDO:0003503 A rare squamous cell carcinoma that arises from the fallopian tube. fallopian tube squamous cell cancer fallopian tube squamous cell carcinoma squamous cell carcinoma of fallopian tube squamous cell carcinoma of the fallopian tube fallopian tube squamous cell carcinoma MONDO:0003504 A neoplasm with neuroendocrine differentiation that arises from the anal canal. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). anal canal neuroendocrine neoplasm anal neuroendocrine neoplasm anus neuroendocrine neoplasm neuroendocrine neoplasm of anal canal neuroendocrine neoplasm of anus neuroendocrine neoplasm of the anus anal canal NET anal canal neuroendocrine tumor anal canal neuroendocrine tumor, well differentiated, low or intermediate grade anal neuroendocrine tumor anus neuroendocrine tumor neuroendocrine tumor of anus anal canal neuroendocrine neoplasm MONDO:0003505 A cancer involving a femur. femoral neoplasm neoplasm of femur cancer of femur femur cancer malignant femur neoplasm malignant neoplasm of femur femoral cancer MONDO:0003506 A rare choriocarcinoma that arises from a pulmonary artery. choriocarcinoma of pulmonary artery choriocarcinoma of the pulmonary artery chorioepithelioma of pulmonary artery chorioepithelioma of the pulmonary artery pulmonary artery choriocarcinoma pulmonary artery choriocarcinoma (disease) pulmonary artery chorioepithelioma pulmonary artery syncytioma syncytioma of pulmonary artery syncytioma of the pulmonary artery pulmonary artery choriocarcinoma MONDO:0003507 A choriocarcinoma arising from the ovary. When it appears before puberty is of germ cell origin. In children and young adults signs and symptoms include precocious pseudopuberty and vaginal bleeding. Serum human chorionic gonadotropin is elevated. Germ cell derived ovarian choriocarcinoma should be differentiated from primary or metastatic gestational choriocarcinoma affecting the ovary. The prognosis of germ cell derived choriocarcinoma is less favorable and requires more aggressive chemotherapy treatment regimens compared to gestational choriocarcinoma. choriocarcinoma of ovary choriocarcinoma of the ovary germ cell choriocarcinoma of ovary germ cell choriocarcinoma of the ovary ovarian choriocarcinoma ovarian germ cell choriocarcinoma ovary choriocarcinoma (disease) choriocarcinoma of ovary MONDO:0003508 A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts. choriocarcinoma of testis choriocarcinoma of the testis testicular choriocarcinoma testis choriocarcinoma (disease) choriocarcinoma choriocarcinoma of testis MONDO:0003509 A choriocarcinoma (disease) that involves the pineal body. choriocarcinoma of pineal area choriocarcinoma of pineal region choriocarcinoma of the pineal area choriocarcinoma of the pineal region pineal area choriocarcinoma pineal choriocarcinoma pineal region choriocarcinoma MONDO:0003510 A malignant tumor predominantly affecting young men and often associated with cryptorchidism. Seminoma is the most frequently seen malignant testicular germ cell tumor, followed by embryonal carcinoma and yolk sac tumor. testicular cancer malignant germ cell neoplasm of testis malignant germ cell neoplasm of the testis malignant germ cell tumor of testis malignant germ cell tumor of the testis malignant testicular germ cell neoplasm malignant testicular germ cell tumor testicular ca. (no germ/tropho.) testicular cancer (excluding germ cell or trophoblastic cancer) testicular germ cell cancer testicular malignant germ cell cancer malignant testicular germ cell tumor MONDO:0003512 A benign or malignant soft tissue neoplasm of the mediastinum. Representative examples of benign mediastinal soft tissue neoplasms include chondroma, leiomyoma, lipoma, and rhabdomyoma. Representative examples of malignant mediastinal soft tissue neoplasms include angiosarcoma, leiomyosarcoma, liposarcoma, osteosarcoma, rhabdomyosarcoma, and synovial sarcoma. mediastinal soft tissue neoplasm mediastinal soft tissue tumor soft tissue neoplasm of mediastinum soft tissue neoplasm of the mediastinum soft tissue tumor of mediastinum soft tissue tumor of the mediastinum mediastinal mesenchymal tumor MONDO:0003513 A mature or immature teratoma that arises from the stomach. gastric teratoma stomach teratoma teratoma of stomach teratoma of the stomach gastric teratoma MONDO:0003514 A malignant form of teratoma. teratoma, malignant malignant extragonadal teratoma malignant teratoma MONDO:0003515 A teratoma that arises from the fallopian tube. It is a rare tumor, often found incidentally. fallopian tube teratoma fallopian tube teratoma MONDO:0003516 A teratoma that occurs in an adult. teratoma adult teratoma teratoma of adults adult teratoma MONDO:0003517 A teratoma which may be cystic; it is composed entirely of well differentiated, adult-type tissues, without evidence of fetal-type tissues. mature teratoma mature teratoma MONDO:0003518 A teratoma that involves the mediastinum. mediastinum teratoma teratoma of mediastinum mediastinum teratoma MONDO:0003519 A malignant form of syringoma. microcystic adnexal carcinoma microcystic adnexal carcinoma of skin syringoma, malignant syringomatous carcinoma MAC malignant syringoma MONDO:0003522 Persistent delay or absence in orgasm not accounted for by a medical reason. inhibited male orgasm male orgasmic disorder male orgasm disorder MONDO:0003523 A gastrin-producing neuroendocrine tumor. It is usually located in the pancreas but it is also found at other anatomic sites, including the stomach and small intestine. G cell tumor G-cell gastrin producing tumor G-cell tumor gastrin cell tumour gastrin secreting tumor gastrin-producing NET gastrin-producing neuroendocrine tumor gastrinoma malignant gastrinoma gastrin-producing neuroendocrine tumor MONDO:0003524 A well differentiated neuroendocrine tumor that arises from the stomach. It produces gastrin and it may be associated with Zollinger-Ellison syndrome. gastric G-cell gastrin producing tumor gastric gastrin producing tumor gastric gastrin-producing NET gastric gastrin-producing neuroendocrine tumor gastrin producing neuroendocrine tumor of the stomach gastrin producing tumor of the stomach gastrin-producing neuroendocrine tumor of stomach gastrin-producing neuroendocrine tumor of the stomach stomach gastrin-producing neuroendocrine tumor gastric gastrinoma gastric gastrin-producing neuroendocrine tumor MONDO:0003525 A usually malignant gastrin-producing neuroendocrine tumor arising from the pancreas. It may or may not be associated with inappropriate secretion of gastrin and an associated clinical syndrome. gastrin-producing neuroendocrine tumor of pancreas pancreas gastrin-producing neuroendocrine tumor pancreatic G-cell tumor pancreatic gastrin producing NET pancreatic gastrin producing tumor pancreatic gastrin-producing neuroendocrine tumor islet cell tumor, ulcerogenic Editor note: determine difference between NCIT:C95596 and NCIT:C9069 pancreatic gastrin-producing neuroendocrine tumor MONDO:0003528 An ischemic contracture of the forearm that most often occurs secondary to trauma. Volkmann's ischemic contracture Volkmann contracture MONDO:0003529 Sudden onset pyelonephritis. pyelonephritis, acute acute pyelonephritis MONDO:0003530 aggressive digital papillary adenocarcinoma MONDO:0003531 papillary apocrine fibroadenoma papillary eccrine adenoma papillary eccrine carcinoma tubular apocrine adenoma digital papillary adenocarcinoma eccrine papillary adenocarcinoma papillary eccrine carcinoma MONDO:0003532 A breast carcinoma characterized by the formation of irregular, finger-like projections of fibrous stroma covered with neoplastic epithelial cells. Papillary breast cancer breast papillary carcinoma papillary breast carcinoma papillary carcinoma of breast papillary carcinoma of the breast breast solid papillary carcinoma solid papillary carcinoma of the breast breast papillary carcinoma MONDO:0003534 A rare primary thymic adenocarcinoma, characterized by a papillary growth pattern. There are only a few published cases, and no good data regarding prognosis. Thymus papillary carcinoma papillary carcinoma of Thymus papillary carcinoma of the Thymus thymic papillary adenocarcinoma thymic papillary carcinoma thymus papillary adenocarcinoma papillary thymic adenocarcinoma MONDO:0003535 An adenocarcinoma that arises from the fallopian tube and is characterized by a papillary architectural pattern. fallopian tube papillary adenocarcinoma papillary adenocarcinoma of fallopian tube papillary adenocarcinoma of the fallopian tube fallopian tube papillary adenocarcinoma MONDO:0003537 A neoplasm of lymphoblasts committed to the T-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called T acute lymphoblastic leukemia. When it involves nodal or extranodal sites it is called T lymphoblastic lymphoma. (WHO, 2001) T lymphoblastic leukemia/lymphoma precursor T lymphoblastic leukemia/lymphoma precursor T lymphoblastic lymphoma/leukemia precursor T-lymphoblastic lymphoma/leukemia precursor T-lymphoblastic lymphoma/leukemia MONDO:0003538 A neoplasm of immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage. Neoplasms involving the bone marrow and the peripheral blood are called precursor lymphoblastic leukemias or acute lymphoblastic leukemias. Neoplasms involving primarily lymph nodes or extranodal sites are called lymphoblastic lymphomas. -- 2003 precursor lymphoblastic leukemia/lymphoma precursor lymphoblastic lymphoma/leukemia precursor lymphoid neoplasm precursor lymphoblastic lymphoma/leukemia MONDO:0003539 An acute T-lymphoblastic leukemia occurring in adults. T Acute Lymphoblastic Leukemia T cell adult ALL T cell adult acute lymphoblastic leukemia T cell adult acute lymphocytic leukemia T-cell adult ALL acute Adult T-cell Leukemia-lymphoma adult T acute lymphoblastic leukemia adult T-cell acute lymphoblastic leukemia adult acute lymphoblastic leukemia of T cell adult precursor T lymphoblastic leukemia adult precursor T-lymphoblastic leukemia T-cell adult acute lymphocytic leukemia MONDO:0003540 precursor T lymphoblastic leukemia acute T cell leukemia MONDO:0003541 An acute lymphoblastic leukemia occurring during adulthood. acute lymphoblastic leukemia (ALL) adult ALL adult acute lymphoblastic leukemia adult acute lymphocytic leukemia adult acute lymphogenous leukemia adult acute lymphoid leukemia adult precursor lymphoblastic leukemia adult acute lymphoblastic leukemia MONDO:0003542 pulp calcification pulp calcifications pulpal calcifications dental pulp calcification MONDO:0003543 A disease involving the trigeminal nerve. disease of trigeminal nerve disease or disorder of trigeminal nerve disorder of trigeminal nerve trigeminal nerve disease trigeminal nerve disease or disorder trigeminal nerve disorder disorder of the fifth cranial nerve disorders of the fifth nerve disorders of the vth cranial nerve trigeminal nerve disorder MONDO:0003544 A primary or metastatic malignant neoplasm affecting the spinal cord. Representative examples include lymphoma, melanoma, and sarcoma. intraspinal tumor spinal cord neoplasm tumor of the spinal cord cancer of spinal cord malignant neoplasm of spinal cord malignant neoplasm of the spinal cord malignant spinal cord neoplasm malignant spinal cord tumor malignant tumor of spinal cord malignant tumor of the spinal cord spinal cancer spinal cord cancer spine cancer spinal neoplasm spinal cord cancer MONDO:0003545 A neoplasm that occurs within the spinal canal in the space between the spinal cord and the dura mater. Representative examples include meningioma, neurofibroma, and sarcoma. Signs and symptoms include local and radicular pain, weakness and spinal cord compression. intradural extramedullary neoplasm of spinal canal intradural extramedullary neoplasm of the spinal canal intradural extramedullary spinal canal neoplasm intradural extramedullary spinal canal tumor intradural extramedullary spinal canal tumors intradural extramedullary spinal neoplasms intradural extramedullary spinal tumors intradural extramedullary tumor of spinal canal intradural extramedullary tumor of the spinal canal spinal canal intradural extramedullary neoplasm intradural extramedullary spinal canal neoplasm MONDO:0003546 A disease involving the oculomotor nerve. disease of oculomotor nerve disease or disorder of oculomotor nerve disorder of oculomotor nerve oculomotor nerve disease oculomotor nerve disease or disorder oculomotor nerve disorder third cranial nerve disorder MONDO:0003548 An invasive breast carcinoma characterized by the presence of tubular and glandular neoplastic cell structures, admixed with islands of neoplastic cells showing squamous differentiation. adenosquamous breast carcinoma breast adenosquamous carcinoma metaplastic adenosquamous carcinoma adenosquamous breast carcinoma MONDO:0003549 An adenosquamous carcinoma that arises from the bile ducts. adenosquamous bile duct carcinoma adenosquamous carcinoma of bile duct adenosquamous carcinoma of the bile duct bile duct adenosquamous carcinoma adenosquamous bile duct carcinoma MONDO:0003550 An esophageal carcinoma characterized by the presence of distinguishable squamous and glandular carcinomatous components. esophageal adenosquamous cancer esophageal adenosquamous carcinoma esophagus adenosquamous carcinoma esophageal adenosquamous carcinoma MONDO:0003551 A rare carcinoma that arises from the thymus and is characterized by the presence of glandular and squamous carcinomatous components. Thymus adenosquamous carcinoma adenosquamous carcinoma of Thymus adenosquamous carcinoma of the Thymus thymic adenosquamous carcinoma thymus adenosquamous carcinoma thymic adenosquamous carcinoma MONDO:0003553 A carcinoma with glandular and squamous differentiation arising from the ampulla of Vater. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss. ampulla of Vater adenosquamous carcinoma hepatopancreatic ampulla adenosquamous carcinoma ampulla of vater adenosquamous carcinoma MONDO:0003554 An unusual colon carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas. adenosquamous carcinoma of colon adenosquamous carcinoma of the colon adenosquamous colon carcinoma colon adenosquamous cancer colon adenosquamous carcinoma colonic adenosquamous carcinoma adenosquamous colon carcinoma MONDO:0003555 A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant glandular epithelial cells and malignant squamous epithelial cells. Bartholin gland adenosquamous carcinoma Bartholin's gland adenosquamous carcinoma major vestibular gland adenosquamous carcinoma Bartholin gland adenosquamous carcinoma MONDO:0003556 A rare endometrial carcinoma characterized by the presence of both malignant glandular and malignant squamous cellular components. adenosquamous carcinoma of endometrium endometrial adenosquamous carcinoma endometrium adenosquamous carcinoma adenosquamous carcinoma of the endometrium endometrial adenosquamous cancer endometrial adenosquamous carcinoma MONDO:0003557 A meningioma that affects the sheath of the optic nerve. meningioma of optic nerve sheath meningioma of the optic nerve sheath optic nerve sheath meningioma Editor note: TODO axiomatize optic nerve sheath meningioma MONDO:0003558 An infrequent invasive carcinoma of the prostate gland characterized by the presence of both glandular and squamous neoplastic components. It is more often located in the transitional zone of the prostate gland and it tends to rapidly metastasize to the bones. adenosquamous carcinoma of prostate adenosquamous carcinoma of the prostate prostate adenosquamous carcinoma prostate gland adenosquamous carcinoma adenosquamous prostate carcinoma MONDO:0003561 An undifferentiated pleomorphic sarcoma characterized by the presence of osteoclast-like giant cells and cellular pleomorphism. giant cell fibrous histiocytoma giant cell malignant fibrous histiocytoma malignant Osteoclastoma malignant giant cell neoplasm of soft parts malignant giant cell tumor of soft parts malignant giant cell tumor of soft parts (morphologic abnormality) undifferentiated pleomorphic sarcoma with osteoclast-like giant cells malignant giant cell tumor of soft parts MONDO:0003562 A benign or malignant neoplasm that affects the rete testis. Representative examples include adenoma and adenocarcinoma. neoplasm of rete testis rete testis neoplasm rete testis neoplasm (disease) rete testis tumor tumor of rete testis rete testis neoplasm MONDO:0003563 Diffuse replacement of the lung tissue by connective tissue. diffuse pulmonary fibrosis MONDO:0003564 Replacement of the lung tissue by connective tissue in a specific area of the lung. localized pulmonary fibrosis MONDO:0003565 An epithelial neoplasm of the urethra, which is morphologically characterized by the presence of a villous architectural pattern. urethra villous adenoma urethral villous adenoma urethral villous adenoma MONDO:0003567 hypoactive bilateral labyrinthine dysfunction hypoactive labyrinth, bilateral bilateral hypoactive labyrinth MONDO:0003568 A disease that involves the optic chiasma. chiasma syndrome chiasmal syndrome disease of optic chiasma disease or disorder of optic chiasma disorder of optic chiasm disorder of optic chiasma optic chiasma disease optic chiasma disease or disorder disorder of optic chiasm MONDO:0003569 A neoplastic or non-neoplastic disorder that affects one of the cranial nerves. cranial nerve disease cranial nerve disorder cranial neuron projection bundle disease cranial neuron projection bundle disease or disorder cranial neuropathy disease of cranial neuron projection bundle disease or disorder of cranial neuron projection bundle disorder of cranial nerve disorder of cranial neuron projection bundle cranial nerve neuropathy MONDO:0003570 A carcinoma characterized by the presence of malignant epithelial cells with clear cytoplasm which contains neutral lipids. A representative example is the lipid-rich breast carcinoma. lipid-rich carcinoma lipid-rich carcinoma (morphologic abnormality) lipid-rich carcinoma MONDO:0003572 A nonkeratinizing carcinoma which occurs predominantly in the nasopharynx but also in the tonsils and rarely in other anatomic sites. It is characterized by the presence of large malignant cells with vesicular nuclei, prominent nucleoli, syncytial growth pattern, and a lymphoplasmacytic infiltrate. Schmincke tumor Schminke tumor lymphoepithelial carcinoma lymphoepithelioma lymphoepithelioma-like carcinoma nasopharyngeal type undifferentiated carcinoma nasopharyngeal type undifferentiated carcinoma MONDO:0003573 A usually aggressive malignant epithelial neoplasm composed of cells with significant cytologic atypia and nuclear pleomorphism. pleomorphic carcinoma pleomorphic carcinoma (morphologic abnormality) pleomorphic carcinoma MONDO:0003574 A malignant neoplasm involving the external ear. cancer of external ear external ear cancer malignant external Ear neoplasm malignant external Ear tumor malignant external ear neoplasm malignant neoplasm of external Ear malignant neoplasm of external ear malignant neoplasm of the external Ear malignant neoplasm of the external ear malignant tumor of external Ear malignant tumor of the external Ear external ear cancer MONDO:0003575 A high grade carcinoma characterized by the presence of comedo-type of tumor cell necrosis in which the necrotic areas are surrounded by a solid proliferation of malignant pleomorphic cells. Comedocarcinoma comedo carcinoma comedocarcinoma MONDO:0003578 A malignant non-seminomatous germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary. cancer of extragonadal non-seminomatous germ cell cancer of the extragonadal non-seminomatous germ cell extragonadal non-seminomatous germ cell cancer extragonadal primary Nonseminoma malignant extragonadal Nonseminoma malignant extragonadal non-seminomatous germ cell neoplasm malignant extragonadal non-seminomatous germ cell tumor malignant neoplasm of extragonadal non-seminomatous germ cell malignant neoplasm of the extragonadal non-seminomatous germ cell malignant tumor of extragonadal non-seminomatous germ cell malignant tumor of the extragonadal non-seminomatous germ cell primary malignant extragonadal Nonseminoma extragonadal nonseminomatous germ cell tumor MONDO:0003579 A disease that involves the nerve fiber layer of retina. disease of nerve fiber layer of retina disease or disorder of nerve fiber layer of retina disorder of nerve fiber layer of retina nerve fiber layer of retina disease nerve fiber layer of retina disease or disorder retinal nerve fiber bundle defects retinal nerve fiber bundle deficiency nerve fibre bundle defect retinal nerve fibre layer disorder MONDO:0003581 An embryonal carcinoma arising from the ovary. Signs and symptoms include the presence of an abdominal mass and abdominal pain. embryonal carcinoma of ovary embryonal carcinoma of the ovary ovarian embryonal carcinoma ovary embryonal carcinoma embryonal carcinoma ovarian embryonal carcinoma MONDO:0003582 An autosomal dominant inherited syndrome caused by mutations in the BRCA1 or BRCA2 genes. Patients are at high risk of developing breast cancer, particularly before the age of fifty, high risk of developing a second primary breast cancer, and high risk of developing both breast and ovarian cancer. https://github.com/monarch-initiative/mondo/issues/84 BRCA1- and BRCA2-associated hereditary breast and ovarian cancer BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC) breast-ovarian cancer, familial, susceptibility to familial breast and ovarian cancer syndrome familial breast/ovarian cancer (BRCA1, BRCA2) hereditary breast and ovarian cancer hereditary breast and ovarian cancer syndrome hereditary breast ovarian cancer syndrome hereditary breast/ovarian cancer (BRCA1, BRCA2) HBOC syndrome HBOC syndromes hereditary breast ovarian cancer syndrome, HBOC syndromes, HBOC hereditary breast ovarian cancer syndrome MONDO:0003584 A disease involving the visual cortex. disease of visual cortex disease or disorder of visual cortex disorder of visual cortex visual cortex disease visual cortex disease or disorder visual cortex disorder visual cortex dysfunction visual cortex disorder MONDO:0003585 A malignant neoplasm arising from adipocytes, that occurs in adults. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma. liposarcoma adult liposarcoma liposarcoma of adults adult liposarcoma MONDO:0003586 A malignant adipose tissue neoplasm of the esophagus, characterized by multivacuolated lipoblasts with hyperchromatic nuclei, a solid pattern of growth, and a rich vascular network. It arises from the mucosal and submucosal layers of the lower esophagus. Clinical presentation includes progressive dysphagia, nausea, throat discomfort, and foreign body sensation. esophageal liposarcoma esophagus liposarcoma liposarcoma of esophagus liposarcoma of the esophagus esophagus liposarcoma MONDO:0003587 A rare malignant neoplasm arising from adipocytes, that occurs in children. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma. liposarcoma childhood liposarcoma pediatric liposarcoma pediatric liposarcoma MONDO:0003588 A rare malignant adipose tissue neoplasm of the larynx. It predominantly affects males. Clinical presentation includes dysphonia, dysphagia and respiratory symptoms. The supraglottis is the most common site of involvement. laryngeal liposarcoma larynx liposarcoma lip larynx sarcoma liposarcoma of larynx liposarcoma of the larynx larynx liposarcoma MONDO:0003589 A malignant adipose tissue neoplasm of the ovary. liposarcoma of ovary ovarian liposarcoma ovary liposarcoma liposarcoma of the ovary MONDO:0003590 A liposarcoma characterized by the presence of a fibroblastic component. fibroblastic liposarcoma fibroblastic liposarcoma (morphologic abnormality) fibroblastic liposarcoma MONDO:0003591 A rare malignant adipose tissue neoplasm of the fat cells surrounding the kidney, usually of the well-differentiated or myxoid type. It may be associated with tuberous sclerosis. kidney liposarcoma liposarcoma of kidney liposarcoma of the kidney renal liposarcoma kidney liposarcoma MONDO:0003592 A malignant adipose tissue neoplasm of the stomach. gastric liposarcoma liposarcoma of stomach liposarcoma of the stomach stomach liposarcoma gastric liposarcoma MONDO:0003593 A malignant adipose tissue neoplasm of the breast. breast liposarcoma liposarcoma of breast liposarcoma of the breast breast liposarcoma MONDO:0003594 A malignant neoplasm characterized by the presence of a combination of liposarcomatous morphologic subtypes: myxoid/round cell and well differentiated/dedifferentiated liposarcoma or myxoid/round cell and pleomorphic liposarcoma. mixed liposarcoma mixed liposarcoma (morphologic abnormality) mixed liposarcoma MONDO:0003595 A morphologic variant of well differentiated liposarcoma occurring most often in the retroperitoneum and paratesticular area. It is characterized by the presence of bizarre hyperchromatic stromal cells and rare multivacuolated lipoblasts within a fibrous stroma. sclerosing liposarcoma MONDO:0003596 A morphologic variant of well differentiated liposarcoma characterized by the presence of bland spindle cells and lipoblasts within a myxoid or fibrous stroma. spindle cell liposarcoma spindle cell liposarcoma MONDO:0003598 Disease involving the median nerve, from its origin at the brachial plexus to its termination in the hand. Clinical features include weakness of wrist and finger flexion, forearm pronation, thenar abduction, and loss of sensation over the lateral palm, first three fingers, and radial half of the ring finger. Common sites of injury include the elbow, where the nerve passes through the two heads of the pronator teres muscle (pronator syndrome) and in the carpal tunnel (carpal tunnel syndrome). median nerve peripheral neuropathy median neuropathy peripheral neuropathy of median nerve median nerve palsy median nerve neuropathy MONDO:0003599 A rare malignant adipose tissue neoplasm of the vulva. liposarcoma of mammalian vulva mammalian vulva liposarcoma vulvar liposarcoma vulvar liposarcoma MONDO:0003600 A malignant adipose tissue neoplasm of the skin. cutaneous liposarcoma liposarcoma of skin liposarcoma of the skin liposarcoma of zone of skin skin liposarcoma zone of skin liposarcoma cutaneous liposarcoma MONDO:0003601 A malignant adipose tissue neoplasm of the anterior, middle or posterior mediastinum. lip mediastinum sarcoma liposarcoma of mediastinum liposarcoma of the mediastinum mediastinal liposarcoma mediastinum liposarcoma mediastinum liposarcoma MONDO:0003602 A malignant adipose tissue neoplasm of the intracranial region. intracranial liposarcoma MONDO:0003603 A hormone producing or non-producing pituitary gland adenoma or carcinoma, not associated with a hormonal syndrome. Nonfunctioning pituitary tumor non-functioning endocrine neoplasm of pituitary gland non-functioning neoplasm of pituitary non-functioning neoplasm of pituitary gland non-functioning neoplasm of the pituitary non-functioning neoplasm of the pituitary gland non-functioning pituitary gland neoplasm non-functioning pituitary gland tumor non-functioning pituitary neoplasm non-functioning pituitary tumor non-functioning tumor of pituitary non-functioning tumor of pituitary gland non-functioning tumor of the pituitary non-functioning tumor of the pituitary gland nonfunctional pituitary gland neoplasm pituitary gland non-functioning endocrine neoplasm non-functioning pituitary gland neoplasm MONDO:0003604 A hormone producing pituitary gland tumor, associated with a hormonal syndrome. functioning endocrine neoplasm of pituitary gland functioning pituitary gland neoplasm functioning pituitary neoplasm hormone producing pituitary neoplasm pituitary gland functioning endocrine neoplasm pituitary neoplasms, hormone producing pituitary tumors, hormone producing functioning pituitary tumor hormone producing pituitary cancer secretory pituitary tumor somatotropinoma functioning pituitary gland neoplasm MONDO:0003606 A malignant neoplasm involving the adrenal medulla adrenal medulla neoplasm adrenal medulla tumor adrenal medulla cancer cancer of adrenal medulla malignant adrenal medulla neoplasm malignant adrenal medulla tumor malignant neoplasm of adrenal medulla malignant neoplasm of the adrenal medulla malignant tumor of adrenal medulla malignant tumor of the adrenal medulla adrenal medulla cancer https://rarediseases.info.nih.gov/diseases/5755/adrenal-medulla-cancer MONDO:0003607 A neuritis that involves the forelimb. forelimb neuritis neuritis of forelimb neuritis of upper limb MONDO:0003608 A disorder characterized by loss of optic nerve fibers. It may be inherited or acquired. Acquired causes include ischemia, optic nerve neuropathy, glaucoma, trauma, radiation, brain tumors, and multiple sclerosis. It leads to vision disturbances. atrophy of optic disc optic atrophy MONDO:0003609 A rare benign cystadenoma that arises from the seminal vesicle. seminal vesicle cystadenoma seminal vesicle cystadenoma MONDO:0003610 An exceptionally rare cystadenoma that arises from the rete ovarii. rete ovarii cystadenoma rete ovarii cystadenoma MONDO:0003611 A benign mesonephric neoplasm that arises from the uterine ligament and occurs in women with von Hippel-Lindau disease. It is a cystic lesion characterized by the presence of multiple papillary excrescences. uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease uterine ligament papillary cystadenoma uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease MONDO:0003612 A primary or metastatic malignant neoplasm that affects the uterine ligament. cancer of uterine ligament malignant neoplasm of uterine ligament malignant uterine ligament neoplasm uterine ligament cancer uterine ligament cancer MONDO:0003614 A rare benign neoplasm characterized by the presence of smooth muscle cells growing within veins. intravenous leiomyomatosis intravenous leiomyomatosis https://rarediseases.info.nih.gov/diseases/10802/intravenous-leiomyomatosis MONDO:0003615 Any nerve disorder caused by the entrapment and compression of a nerve. compression neuropathy entrapment neuropathy peripheral nerve entrapment syndrome nerve compression syndrome MONDO:0003616 Formation of nodules in the isthmus of the fallopian tube due to fallopian tube diverticulosis. It may cause infertility or ectopic pregnancy. salpingitis isthmica nodosa MONDO:0003617 Chronic inflammation of the fallopian tube. It usually follows an acute inflammatory attack. salpingitis, chronic chronic salpingitis MONDO:0003618 The presence of pus in the fallopian tube. It is usually caused by acute salpingitis. The fallopian tube is distended and filled with pus. Histologic examination reveals edema and acute and chronic inflammation. Symptoms include fever, vaginal discharge, and pelvic pain. pyosalpingitis pyosalpinx MONDO:0003619 Acute or chronic inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy. fallopian tube inflammation inflammation of fallopian tube salpingitis MONDO:0003620 A disease involving the peripheral nervous system. PNS (peripheral nervous system) diseases PNS disease PNS diseases disease of peripheral nervous system disease or disorder of peripheral nervous system disorder of peripheral nervous system disorder of the peripheral nervous system peripheral nervous system disease peripheral nervous system disease or disorder peripheral nervous system disorder peripheral nervous system disorders nerve disease, peripheral nerve diseases, peripheral neuropathy, peripheral peripheral Neuropathies peripheral nerve disease peripheral nerve diseases peripheral neuropathy peripheral nervous system disorder MONDO:0003621 A neuroendocrine tumor that arises from the small intestine and produces vasoactive intestinal peptide. small intestinal VIP producing tumor small intestinal VIP-producing NET small intestinal VIP-producing neuroendocrine tumor small intestinal VIPoma small intestinal vasoactive intestinal peptide producing tumor small intestinal vasoactive intestinal peptide producing tumor MONDO:0003622 A usually malignant pancreatic neuroendocrine tumor producing vasoactive intestinal peptide (VIP). It may or may not be associated with inappropriate secretion of VIP and an associated clinical syndrome. pancreatic VIP producing NET pancreatic VIP producing neoplasm pancreatic VIP producing tumor pancreatic VIP-producing neuroendocrine tumor pancreatic vasoactive intestinal peptide producing neoplasm pancreatic vasoactive intestinal peptide producing tumor pancreatic vasoactive intestinal peptide producing tumor MONDO:0003624 A breast adenocarcinoma characterized by the presence of serous (acinic cell) differentiation. acinar cell breast carcinoma acinic cell breast carcinoma breast carcinoma of acinar cell acinic cell breast carcinoma MONDO:0003626 A rare serous adenocarcinoma that arises from the uterine ligament. uterine ligament serous adenocarcinoma uterine ligament serous adenocarcinoma MONDO:0003627 A rheumatologic disorder that involves the pulmonary valve. pulmonary valve rheumatologic disorder rheumatic disease of pulmonary valve rheumatic pulmonary incompetence rheumatologic disorder of pulmonary valve rheumatic pulmonary valve disease MONDO:0003628 A disease involving the pulmonary valve. disease of pulmonary valve disease or disorder of pulmonary valve disorder of pulmonary valve pulmonary valve disease pulmonary valve disease or disorder pulmonary valve disorder pulmonary valve disorder MONDO:0003629 A serous adenocarcinoma that involves the uterine corpus. uterine papillary serous carcinoma body of uterus serous adenocarcinoma uterine serous carcinoma/uterine papillary serous carcinoma uterine corpus serous adenocarcinoma MONDO:0003630 A metastasizing, slow-growing malignant epithelial neoplasm that arises from the exocrine pancreas. It is characterized by the presence of cysts and is composed of glycogen-rich malignant epithelial cells which produce a watery fluid. Signs and symptoms include upper gastrointestinal bleeding, weight loss, jaundice, and abdominal pain. pancreas serous adenocarcinoma pancreatic serous cystadenocarcinoma serous cystadenocarcinoma of pancreas serous cystadenocarcinoma of the pancreas pancreatic serous cystadenocarcinoma MONDO:0003631 A rare adenocarcinoma that arises from the cervix. It is characterized by the presence of papillary patterns and cellular budding. Psammoma bodies are often seen. cervical serous adenocarcinoma cervical serous adenocarcinoma MONDO:0003632 Inflammation of the endocervix. endocervix inflammation inflammation of endocervix endocervicitis MONDO:0003633 A term describing a malignant soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation. mesenchymoma, malignant mesenchymoma, malignant (morphologic abnormality) malignant mesenchymoma MONDO:0003634 The presence of abnormal amounts of protein in the urine. Consider obsoleting / use HPO proteinuria MONDO:0003635 A very rare breast adenocarcinoma with sebaceous differentiation. breast sebaceous adenocarcinoma sebaceous adenocarcinoma of breast sebaceous breast carcinoma sebaceous breast carcinoma MONDO:0003636 A carcinoma that arises from the vulva. It is characterized by the presence of malignant basaloid glandular epithelial cells that resemble sebaceous epithelium and are arranged in cords and nests. mammalian vulva sebaceous adenocarcinoma sebaceous adenocarcinoma of mammalian vulva vulvar sebaceous carcinoma MONDO:0003637 A rare benign lung tumor with perivascular epithelioid cell differentiation. It is composed of round or oval cells with abundant clear or eosinophilic cytoplasm and distinct cell borders. The vast majority of patients are asymptomatic and the tumors are discovered incidentally. Excision is curative. CCSTL Sugar tumor clear cell-Sugar-tumor of lung clear cell-Sugar-tumor of the lung lung clear cell tumor lung clear cell-sugar-tumor clear cell-sugar-tumor of the lung MONDO:0003638 A primary or metastatic meningioma that is present in the lung. The lung is the most frequent site of metastasis of meningiomas. lung meningioma lung meningioma (disease) lung primary meningioma meningioma (disease) of lung meningioma of lung meningioma of the lung primary pulmonary meningioma pulmonary meningioma lung meningioma MONDO:0003639 A benign or malignant neoplasm that arises from the hilar region of the lung. hilar lung neoplasm hilar lung tumor lung hilum neoplasm lung hilum tumor lung hilus neoplasm lung hilus neoplasm (disease) lung hilus tumor neoplasm of hilus of lung neoplasm of lung hilus tumor of lung hilus lung hilum neoplasm MONDO:0003640 A rare, benign wart-like skin lesion of unknown etiology that is usually found in the genital or perianal area and consists of hyperkeratosis and aggregates of foam cell macrophages. cutaneous verruciform xanthoma skin verruciform xanthoma verruciform xanthoma verruciform xanthoma (morphologic abnormality) verruciform xanthoma of the skin verruciform xanthoma of skin MONDO:0003641 A primary or metastatic neoplasm of hematopoietic origin that affects the brain, meninges, or spinal cord. Representative examples include Hodgkin and non-Hodgkin lymphomas, histiocytic tumors, and leukemias. CNS hematopoietic neoplasm CNS hematopoietic tumor central nervous system hematopoietic and lymphoid system neoplasm central nervous system hematopoietic neoplasm central nervous system hematopoietic neoplasms central nervous system hematopoietic tumor hematopoietic and lymphoid system neoplasm of central nervous system hematopoietic neoplasm of CNS hematopoietic neoplasm of central nervous system hematopoietic neoplasm of the CNS hematopoietic neoplasm of the central nervous system hematopoietic tumor of central nervous system hematopoietic tumor of the central nervous system lymphomas and hemopoietic neoplasms of CNS lymphomas and hemopoietic neoplasms of the CNS central nervous system hematologic cancer central nervous system hematopoietic neoplasm MONDO:0003643 A cavernous hemangioma characterized by the presence of hylanized vascular channels and is often associated with the presence of calcifications, fibrosis, and hemorrhage. giant hemangioma giant hemangioma MONDO:0003644 A cavernous hemangioma arising from the colon. cavernous angioma of colon cavernous angioma of the colon cavernous hemangioma of colon cavernous hemangioma of the colon colon cavernous angioma colon cavernous hemangioma colonic cavernous angioma colonic cavernous hemangioma cavernous hemangioma of colon MONDO:0003645 A cavernous hemangioma arising from the face. cavernous hemangioma of face cavernous hemangioma of the Face face cavernous hemangioma cavernous hemangioma of face MONDO:0003646 A neoplasm with neuroendocrine differentiation that arises from the rectum. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). NET of the rectum neuroendocrine neoplasm of rectum neuroendocrine neoplasm of the rectum neuroendocrine tumor of rectum rectal NET rectal neuroendocrine neoplasm rectum NET rectum neuroendocrine neoplasm rectum neuroendocrine tumor rectum neuroendocrine tumor, well differentiated, low or intermediate grade rectum neuroendocrine neoplasm MONDO:0003647 atrophic flaccid tympanic membrane MONDO:0003648 A disease involving the tympanic membrane. disease of tympanic membrane disease or disorder of tympanic membrane disorder of tympanic membrane tympanic membrane disease tympanic membrane disease or disorder tympanic membrane disorder MONDO:0003649 A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the esophagus. NEN of esophagus esophageal NEN esophageal NET esophageal neuroendocrine neoplasm esophageal neuroendocrine tumor esophageal well differentiated endocrine tumor esophageal well differentiated endocrine tumor/carcinoma esophagus NET esophagus neuroendocrine neoplasm esophagus neuroendocrine tumor esophagus neuroendocrine tumor, well differentiated, low or intermediate grade neuroendocrine neoplasm of esophagus neuroendocrine tumor of esophagus esophageal neuroendocrine tumor MONDO:0003650 A hepatoblastoma characterized by the presence of fetal and embryonal epithelial components and a mesenchymal component. mixed epithelial and mesenchymal hepatoblastoma mixed hepatoblastoma MONDO:0003651 A pure fetal or fetal and embryonal epithelial hepatoblastoma characterized by the presence of broad trabeculae. macrotrabecular hepatoblastoma MONDO:0003652 Urolithiasis in which the composition of the stones is predominantly urate. uric acid nephrolithiasis uric acid urolithiasis acute urate nephropathy MONDO:0003653 Salmon patch nevus Unna's nevus stork bite MONDO:0003654 A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It occurs in childhood and usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. The prognosis is usually excellent. childhood parosteal osteogenic sarcoma childhood parosteal osteosarcoma childhood parosteal osteosarcoma MONDO:0003655 A non-Hodgkin or Hodgkin lymphoma that arises in the cerebral hemispheres as a primary lesion. brain primary lymphoma cerebral lymphoma primary cerebral lymphoma primary lymphoma of cerebrum primary lymphoma of the cerebrum primary lymphoma, brain cerebral lymphoma MONDO:0003656 A laboratory test result which indicates free hemoglobin in the urine. May be obsoleted as it represents a finding hemoglobinuria MONDO:0003658 A group of lymphomas displaying molecular, morphologic, immunophenotypic, and clinical overlap between classical Hodgkin lymphoma and diffuse large B-cell lymphoma. This term particularly applies to mediastinal lymphomas with overlapping features of mediastinal (thymic) large B-cell lymphoma and classical Hodgkin lymphoma. B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and Classic Hodgkin lymphoma B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and classical Hodgkin lymphoma Gray zone lymphoma Hodgkin-like anaplastic large cell lymphoma large B-cell lymphoma with Hodgkin features B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma https://rarediseases.info.nih.gov/diseases/10897/gray-zone-lymphoma MONDO:0003659 A Hodgkin or non-Hodgkin lymphoma that occurs during childhood. lymphoma childhood lymphoma pediatric lymphoma pediatric lymphoma MONDO:0003660 A lymphoma that occurs in an adult. lymphoma adult lymphoma lymphoma of adults adult lymphoma MONDO:0003661 A lymphoma that arises from the breast. There is no history of extramammary breast lymphoma and ipsilateral axillary lymph node involvement does not exclude the diagnosis of primary breast lymphoma. Most patients present with a painless breast lump. The vast majority of cases are B-cell non-Hodgkin lymphomas. Diffuse large B-cell lymphoma, follicular lymphoma, and extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue are the most common types of primary non-Hodgkin lymphoma of the breast. Primary Hodgkin lymphoma of the breast is rare. breast lymphoma lymphoma of breast lymphoma of the breast malignant lymphoma of breast primary breast lymphoma breast lymphoma MONDO:0003663 A rare endometrioid adenocarcinoma that arises from the uterine ligament. Some of the reported cases were associated with endometriosis. endometrioid adenocarcinoma of uterine ligament uterine ligament endometrioid adenocarcinoma uterine ligament endometrioid adenocarcinoma MONDO:0003664 Anemia resulting from the premature destruction of the peripheral blood red cells. It may be congenital or it may be caused by infections, medications, or malignancies. anemia hemolytic anemia, hemolytic hemolytic anemia hemolytic anemia MONDO:0003665 A cervical adenocarcinoma with the histologic characteristics of the endometrioid adenocarcinoma of the endometrium. cervical endometrioid adenocarcinoma cervical endometrioid carcinoma cervix endometrioid adenocarcinoma cervix endometrioid carcinoma cervix uteri endometrioid adenocarcinoma cervix uteri endometrioid carcinoma endometrioid adenocarcinoma of cervix endometrioid adenocarcinoma of cervix uteri endometrioid adenocarcinoma of the cervix endometrioid adenocarcinoma of the cervix uteri endometrioid adenocarcinoma of the uterine cervix endometrioid adenocarcinoma of uterine cervix endometrioid carcinoma of cervix endometrioid carcinoma of cervix uteri endometrioid carcinoma of the cervix endometrioid carcinoma of the cervix uteri endometrioid carcinoma of the uterine cervix endometrioid carcinoma of uterine cervix uterine cervix endometrioid adenocarcinoma uterine cervix endometrioid carcinoma cervical endometrioid adenocarcinoma MONDO:0003666 An adenocarcinoma that arises from the fallopian tube and resembles the endometrioid adenocarcinoma of the uterus. It usually has a favorable prognosis. endometrioid adenocarcinoma of fallopian tube endometrioid adenocarcinoma of the fallopian tube endometrioid carcinoma of fallopian tube endometrioid carcinoma of the fallopian tube fallopian tube endometrioid adenocarcinoma fallopian tube endometrioid cancer fallopian tube endometrioid carcinoma fallopian tube endometrioid neoplasm fallopian tube endometrioid adenocarcinoma MONDO:0003668 extragonadal primary seminoma extragonadal seminoma primary extragonadal seminoma extragonadal seminoma MONDO:0003669 A malignant germ cell tumor arising from the testis. It is believed that it is derived from the sexually undifferentiated embryonic gonad. Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma. seminoma of testis seminoma of the testis seminoma testis seminomatous germ cell tumor of testis testicular seminoma testicular seminoma (disease) testicular seminoma Pure testicular seminomatous germ cell tumor testis seminoma testicular seminoma https://rarediseases.info.nih.gov/diseases/4792/testicular-seminoma MONDO:0003670 An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the posteroinferior wall of the heart. posteroinferior myocardial infarction by ECG finding posteroinferior myocardial infarction by EKG finding Editor note: TODO: positional superclass posteroinferior myocardial infarction MONDO:0003671 A myocardial infarction (disease) that involves the cardiac septum. cardiac septum myocardial infarction (disease) myocardial infarction (disease) of cardiac septum septal myocardial infarction MONDO:0003672 true posterior myocardial infarction true posterior wall infarction posterior myocardial infarction MONDO:0003673 An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the apex of the heart. apical myocardial infarction MONDO:0003674 An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the subendocardial layer of the wall of the heart. myocardial infarction (disease) of subendocardium layer subendocardium layer myocardial infarction (disease) subendocardial myocardial infarction MONDO:0003675 An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the posterolateral wall of the heart. posterolateral myocardial infarction MONDO:0003676 An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the inferolateral wall of the heart. inferolateral myocardial infarct MONDO:0003677 lateral myocardial infarction MONDO:0003678 A history of myocardial infarction in the absence of clinical symptoms and positive electrocardiographic findings. silent myocardial infarction silent myocardial infarction MONDO:0003679 anteroseptal myocardial infarction MONDO:0003680 A chondrosarcoma arising from the surface of bone. It is characterized by a lobulated growth pattern, high mitotic activity, myxoid stroma formation, and necrotic changes. It occurs in adults. Clinical presentation includes pain, and sometimes swelling. chondrosarcoma (disease) of periosteum juxtacortical chondrosarcoma juxtacortical chondrosarcoma (morphologic abnormality) periosteal chondrosarcoma periosteum chondrosarcoma (disease) periosteal chondrosarcoma MONDO:0003681 A chondrosarcoma characterized by the presence of myxoid changes. myxoid chondrosarcoma MYCHS myxoid chondrosarcoma MONDO:0003682 A non-disseminated skeletal or extraskeletal chondrosarcoma. chondrosarcoma, localized localized chondrosarcoma localized chondrosarcoma MONDO:0003684 A rare, usually low grade chondrosarcoma characterized by the presence of tumor cells with clear cytoplasm. It usually arises in the epiphyseal ends of long bones. clear cell chondrosarcoma clear cell chondrosarcoma (morphologic abnormality) clear cell chondrosarcoma MONDO:0003685 A germ cell tumor that involves the retroperitoneal space. germ cell neoplasm of retroperitoneum germ cell neoplasm of the retroperitoneum germ cell tumor of retroperitoneum germ cell tumor of the retroperitoneum retroperitoneal germ cell tumor retroperitoneal germ cell neoplasm MONDO:0003686 A benign or malignant sweat gland neoplasm with apocrine differentiation. Representative examples include apocrine adenoma, ceruminous adenocarcinoma, and apocrine breast carcinoma. apocrine neoplasm apocrine neoplasm of skin apocrine neoplasm of the skin apocrine skin neoplasm apocrine skin tumor apocrine sweat gland neoplasm (disease) apocrine sweat gland tumor apocrine tumor apocrine tumor of skin apocrine tumor of the skin neoplasm of apocrine sweat gland tumor of apocrine sweat gland apocrine sweat gland neoplasm MONDO:0003687 A malignant neoplasm involving the endocardium. cancer of endocardium endocardium cancer malignant endocardial neoplasm malignant endocardial tumor malignant endocardium neoplasm malignant neoplasm of endocardium malignant neoplasm of the endocardium malignant tumor of endocardium malignant tumor of the endocardium endocardium cancer MONDO:0003688 A localized or multifocal mesothelioma arising from the peritoneum and less often the pleura. Cases arising from the peritoneum predominantly occur in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to malignant mesothelioma. WDPM benign/Intermediate mesothelioma well differentiated papillary mesothelioma well-differentiated mesothelial papillary neoplasm well-differentiated mesothelial papillary tumor well-differentiated papillary neoplasm of mesothelium well-differentiated papillary neoplasm of the mesothelium well-differentiated papillary tumor of mesothelium well-differentiated papillary tumor of the mesothelium benign intermediate mesothelioma well differentiated papillary mesothelioma MONDO:0003689 A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies. congenital hemolytic anemia hereditary hemolytic anemia anemia hemolytic congenital familial hemolytic anemia https://rarediseases.info.nih.gov/diseases/6167/congenital-hemolytic-anemia MONDO:0003690 An anaplastic ependymoma occurring in adults. anaplastic ependymoma adult anaplastic ependymoma adult malignant ependymoma anaplastic ependymoma of adults malignant adult ependymoma adult anaplastic ependymoma MONDO:0003691 A malignant mesenchymoma occurring in children. malignant mesenchymoma childhood malignant mesenchymoma malignant mesenchymoma of childhood pediatric malignant mesenchymoma childhood malignant mesenchymoma MONDO:0003692 A malignant mesenchymoma occurring in adults. malignant mesenchymoma adult malignant mesenchymoma malignant mesenchymoma of adults adult malignant mesenchymoma MONDO:0003693 A benign neoplasm characterized by the presence of cystic glandular and fibrous tissues and clear cells. clear cell cystadenofibroma clear cell cystadenofibroma MONDO:0003694 A benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma and cystic structures. clear cell cystadenofibroma of ovary ovarian clear cell cystadenofibroma ovary clear cell cystadenofibroma ovarian clear cell cystadenofibroma MONDO:0003695 An uncommon benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma. clear cell adenofibroma of ovary ovarian clear cell adenofibroma ovary clear cell adenofibroma ovarian clear cell adenofibroma MONDO:0003697 non-invasive penile verrucous carcinoma non-invasive verrucous carcinoma of penis non-invasive verrucous carcinoma of the penis penis non-invasive verrucous carcinoma non-invasive verrucous carcinoma of the penis MONDO:0003698 A slow growing, locally recurring, very well differentiated papillary squamous cell carcinoma that arises from the penis. It is characterized by the presence of acanthosis and hyperkeratosis. The neoplastic infiltrate extends into the underlying stroma with a pushing border. Koilocytotic atypia is not present. penis verrucous carcinoma squamous carcinoma of penis, verrucous type squamous carcinoma of the penis, verrucous type verrucous carcinoma of penis verrucous carcinoma of the penis verrucous penile carcinoma verrucous penile squamous carcinoma verrucous squamous carcinoma of penis verrucous squamous carcinoma of the penis verrucous penile squamous cell carcinoma penis verrucous carcinoma MONDO:0003699 An anxiety disorder characterized by an intense, irrational fear of an object, activity, or situation. The individual seeks to avoid the object, activity, or situation. In adults, the individual recognizes that the fear is excessive or unreasonable. phobia phobic disorder MONDO:0003700 A neoplasm (disease) that involves the brachial nerve plexus. brachial nerve plexus neoplasm brachial nerve plexus neoplasm (disease) brachial nerve plexus tumor brachial plexus neoplasm brachial plexus neoplasms brachial plexus tumor neoplasm of brachial nerve plexus neoplasm of brachial plexus neoplasm of the brachial plexus tumor of brachial nerve plexus tumor of brachial plexus tumor of the brachial plexus brachial plexus neoplasm MONDO:0003701 A morphologic variant of papillary carcinoma of the thyroid gland that more often affects young patients and commonly metastasizing to the lungs. It is characterized by a diffuse infiltration of the thyroid gland by malignant follicular cells, squamous metaplasia, stromal fibrosis, and lymphocytic infiltration. nonencapsulated sclerosing adenocarcinoma nonencapsulated sclerosing carcinoma nonencapsulated sclerosing neoplasm nonencapsulated sclerosing papillary thyroid carcinoma nonencapsulated sclerosing tumor papillary carcinoma, diffuse sclerosing thyroid gland diffuse sclerosing papillary carcinoma thyroid gland diffuse sclerosing papillary carcinoma MONDO:0003702 A rare benign neoplasm characterized by the presence of smooth muscle cells growing within the veins of the uterine corpus. The intravascular neoplasm growth occurs outside the confines of an adjacent leiomyoma. intravascular leiomyomatosis of the uterus intravascular leiomyomatosis of uterus intravenous leiomyomatosis of the uterus intravenous leiomyomatosis of uterus uterine corpus intravenous leiomyomatosis uterus intravenous leiomyomatosis uterus intravascular leiomyomatosis MONDO:0003704 An unusual condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body of the uterus. body of uterus leiomyomatosis leiomyomatosis of body of uterus uterine corpus diffuse leiomyomatosis uterine corpus leiomyomatosis uterine corpus diffuse leiomyomatosis MONDO:0003705 adult brain stem mixed glioma adult brainstem mixed glioma adult brainstem mixed glioma MONDO:0003706 adult brain stem astrocytoma adult brainstem astrocytoma adult brainstem astrocytoma MONDO:0003707 A carcinoma that arises from the common bile duct distal to the insertion of the cystic duct. carcinoma of distal biliary tract carcinoma of the distal biliary tract distal bile duct cancer distal bile duct carcinoma distal biliary tract carcinoma extrahepatic (distal) bile duct cancer distal biliary tract carcinoma MONDO:0003708 An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the extrahepatic bile ducts. It is characterized by the presence of malignant small cells. Oat cell carcinoma of extrahepatic bile duct Oat cell carcinoma of the extrahepatic bile duct Oat cell extrahepatic bile duct carcinoma extrahepatic bile duct small cell NEC extrahepatic bile duct small cell neuroendocrine carcinoma small cell adenocarcinoma of extrahepatic bile duct small cell adenocarcinoma of the extrahepatic bile duct small cell extrahepatic bile duct carcinoma small cell extrahepatic bile duct neuroendocrine carcinoma extrahepatic bile duct small cell adenocarcinoma MONDO:0003709 An anxiety disorder characterized by an intense, irrational fear of venturing out into open places or situations in which help (or escape) might not be available should excessive anxiety or panic symptoms develop. fear of open spaces fear of open spaces (finding) agoraphobia MONDO:0003710 An ovarian malignant germ cell tumor characterized by the presence of at least two different germ cell components. At least one of the germ cell components is primitive. The most common combination of germ cell elements is dysgerminoma and yolk sac tumor. mixed germ cell neoplasm of ovary mixed germ cell neoplasm of the ovary mixed germ cell tumor of ovary mixed germ cell tumor of the ovary ovarian mixed germ cell neoplasm ovarian mixed germ cell tumor ovary mixed germ cell tumor mixed germ cell tumor ovarian mixed germ cell neoplasm MONDO:0003712 angiokeratoma of mibelli MONDO:0003713 angiokeratoma circumscriptum MONDO:0003714 bladder urachal squamous cell carcinoma bladder urachal squamous cell carcinoma MONDO:0003715 Urachal cancer is a type of bladder cancer, making up less than 1% of all bladder cancers. The urachus is a structure normally only present during development in the womb that connects the bellybutton and the bladder. This connection normally disappears before birth, but in some people remains. Urachalcancers are usually diagnosed in adults in their 50's and 60's and may develop at the dome or anterior wall of the bladder, along the midline of the body (including the belly button), and between the pubis symphasis and the bladder.Most urachal cancersare adenocarcinomas (cancers that develop from gland cells).Others may besarcomas (which develop from connective tissue -such as leiomyosarcoma, rhabdomyosarcoma, and malignant fibrous histiocytoma), small cell carcinomas, transitional cell cancer, and mixed neoplasias. Most individuals with urachal cancer have symptoms of with hematuria (blood in urine). Other symptoms may include abdominal pain, a palpable abdominal mass, mucinuria, and bacteriuria. Treatment usually involved surgery to remove the cancer. bladder urachal cancer bladder urachal carcinoma urachal carcinoma bladder urachal carcinoma MONDO:0003716 A papillary transitional cell carcinoma that arises from the renal pelvis. kidney pelvis papillary carcinoma papillary carcinoma of kidney pelvis papillary carcinoma of renal pelvis papillary carcinoma of the kidney pelvis papillary carcinoma of the renal pelvis renal pelvis papillary carcinoma renal pelvis papillary urothelial carcinoma renal pelvis papillary urothelial carcinoma MONDO:0003717 A papillary tumor originating in the renal pelvis. papillary neoplasm of renal pelvis papillary neoplasm of the renal pelvis papillary tumor of renal pelvis papillary tumor of the renal pelvis renal pelvis papillary tumor renal pelvis papillary urothelial neoplasm renal pelvis papillary tumor MONDO:0003718 occlusion and stenosis of multiple and bilateral precerebral arteries occlusion and stenosis of precerebral artery occlusion precerebral artery MONDO:0003719 A neoplasm (disease) that involves the renal pelvis. kidney pelvis neoplasm kidney pelvis tumor neoplasm of kidney pelvis neoplasm of renal pelvis neoplasm of the kidney pelvis neoplasm of the renal pelvis renal pelvis neoplasm renal pelvis neoplasm (disease) renal pelvis tumor tumor of kidney pelvis tumor of renal pelvis tumor of the kidney pelvis tumor of the renal pelvis renal pelvis neoplasm MONDO:0003720 A usually aggressive malignant neoplasm arising from the kidney. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. fibrosarcoma of kidney fibrosarcoma of the kidney kidney fibrosarcoma kidney fibrosarcoma (disease) renal fibrosarcoma kidney fibrosarcoma MONDO:0003721 An osteosarcoma arising from the kidney. kidney extraskeletal osteosarcoma kidney osteogenic sarcoma kidney osteosarcoma kidney osteosarcoma (disease) osteogenic sarcoma of kidney osteogenic sarcoma of the kidney osteosarcoma of kidney osteosarcoma of the kidney renal extraskeletal osteosarcoma renal osteogenic sarcoma renal osteosarcoma kidney osteogenic sarcoma MONDO:0003722 A meningioma that affects the internal auditory canal. internal acoustic meatus meningioma (disease) meningioma (disease) of internal acoustic meatus meningioma of internal auditory canal meningioma of the internal auditory canal internal auditory canal meningioma MONDO:0003723 Breast adenosis characterized by the presence of ducts with distended lumen and columnar cell metaplasia. blunt duct adenosis of the breast breast blunt duct adenosis blunt duct adenosis of breast MONDO:0003724 Breast fibrocystic change characterized by the absence of epithelial cell hyperplasia. breast fibrocystic change, non-proliferative type non-proliferative fibrocystic change non-proliferative fibrocystic change of breast non-proliferative fibrocystic change of the breast MONDO:0003725 A non-neoplastic disorder characterized by epithelial and/or myoepithelial tissue growth in the breast lobules. It may be associated with apocrine changes or sclerosis. adenosis adenosis - breast adenosis of breast adenosis of the breast breast adenosis microglandular adenosis breast adenosis MONDO:0003726 Breast adenosis characterized by the presence of extensive apocrine metaplasia. apocrine adenosis of breast apocrine adenosis of the breast breast apocrine adenosis apocrine adenosis of breast MONDO:0003727 An overwhelming, irrational, and persistent fear of animals. fear of animals fear of animals (finding) zoophobia zoophobia (finding) animal phobia MONDO:0003728 A usually aggressive malignant neoplasm arising from the breast. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. breast fibrosarcoma breast fibrosarcoma (disease) fibrosarcoma of breast fibrosarcoma of the breast breast fibrosarcoma MONDO:0003729 Infiltration of the skin and subcutaneous tissue by leukemic cells without evidence of leukemia in the bone marrow and peripheral blood. It results in clinically identifiable skin lesions. It may be the first manifestation of acute leukemia, preceding the involvement of the bone marrow and peripheral blood by the leukemic process. aleukemic leukemia cutis leukemia subleukemic aleukemic leukemia cutis MONDO:0003730 A leukemia characterized by the absence of leukemic cells in the peripheral blood. aleukemic leukemia aleukemic myelosis subleukemic leukemia aleukemic leukemia MONDO:0003731 A mature or immature teratoma affecting the central nervous system and occurring in adults. Central nervous system teratoma adult CNS teratoma adult central nervous system teratoma central nervous system teratoma of adults teratoma of adult CNS teratoma of adult central nervous system teratoma of the adult CNS teratoma of the adult central nervous system adult central nervous system teratoma MONDO:0003732 A central nervous system mature teratoma that occurs in an adult. adult central nervous system mature teratoma central nervous system mature teratoma of adults adult central nervous system mature teratoma MONDO:0003733 A teratoma composed exclusively of fully differentiated, 'adult-type' tissue elements that are sometimes arranged in a pattern resembling normal tissue relationships. Mitotic activity is low or absent. The more common ectodermal components present in a mature teratoma include skin, brain and choroid plexus. The more common mesodermal components include cartilage, bone, fat and muscle (both smooth and striated). And the most common endodermal components are cysts lined by epithelia of respiratory or enteric type and in some cases pancreatic or hepatic tissue. (Adapted from WHO) CNS mature teratoma central nervous system mature teratoma mature teratoma of CNS mature teratoma of central nervous system mature teratoma of the CNS mature teratoma of the central nervous system mature teratoma central nervous system mature teratoma MONDO:0003734 adult central nervous system immature teratoma adult central nervous system immature teratoma MONDO:0003735 A variant of teratoma composed of incompletely differentiated components resembling fetal tissues. Even if the immature component is only a minor element of an otherwise differentiated teratoma, the tumor is still classified as immature. (Adapted from WHO) CNS immature teratoma central nervous system immature teratoma immature teratoma of CNS immature teratoma of central nervous system immature teratoma of the CNS immature teratoma of the central nervous system immature teratoma central nervous system immature teratoma MONDO:0003736 An overwhelming, irrational, and persistent fear of being diagnosed with cancer. Cancerphobia cancer phobia fear of getting cancer fear of getting cancer (finding) cancerophobia MONDO:0003737 A Leydig cell tumor characterized by a large size, cellular atypia, high mitotic activity, vascular invasion and necrotic changes. The prognosis is usually poor. testicular Leydig cell tumor, malignant malignant testicular Leydig cell tumor MONDO:0003738 A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class E (IgE). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons appear asymptomatic but may show a predisposition to autoimmune and respiratory diseases. selective IgE immunodeficiency selective immunoglobulin E deficiency selective IgE deficiency disease MONDO:0003739 A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the five immunoglobulin classes. Deficiencies of immunoglobulins present variably according to isotype. Selective deficiencies may be caused by decreased or inefficient production from progenitor B cells without any corresponding decreases in the other isotypes. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity. selective Immunoglobulin isotype deficiency selective immunoglobulin deficiency disease MONDO:0003740 An overwhelming, irrational, and persistent fear of contracting Acquired Immune Deficiency Syndrome. AIDS phobia AIDS phobia MONDO:0003741 A rare sex cord-stromal tumor that arises from the testis. It is the most frequent congenital testicular neoplasm and is usually diagnosed during the perinatal period. It usually presents as an asymptomatic scrotal or abdominal mass. Morphologically it is characterized by the presence of cysts that are lined by cells resembling granulosa and theca cells. juvenile granulosa cell tumor juvenile granulosa cell tumor (morphologic abnormality) juvenile granulosa cell tumour juvenile type granulosa cell neoplasm juvenile type granulosa cell tumor juvenile type testicular granulosa cell tumor MONDO:0003742 A usually aggressive malignant neoplasm arising from the heart. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. Cardiac fibrosarcoma cardiac fibrosarcoma fibrosarcoma of heart fibrosarcoma of the heart heart fibrosarcoma heart fibrosarcoma (disease) heart fibrosarcoma MONDO:0003743 A malignant hemangiopericytoma arising in the heart. heart hemangiopericytoma heart spindle cell tumor malignant Cardiac hemangiopericytoma malignant heart hemangiopericytoma malignant hemangiopericytoma of heart malignant hemangiopericytoma of the heart Editor note: check SFT/hemangiopericytoma/spindle cell tumor heart malignant hemangiopericytoma MONDO:0003744 A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of spindle-shaped melanocytes. spindle cell melanoma of the uvea spindle cell melanoma of uvea spindle cell uveal melanoma uveal spindle cell melanoma spindle cell intraocular melanoma MONDO:0003745 A spindle cell melanoma that involves the optic choroid. optic choroid spindle cell melanoma spindle cell melanoma of choroid spindle cell melanoma of optic choroid spindle cell melanoma of the choroid choroid spindle cell melanoma MONDO:0003746 A spindle cell melanoma that involves the ciliary body. ciliary body spindle cell melanoma spindle cell melanoma of ciliary body spindle cell melanoma of the ciliary body ciliary body spindle cell melanoma MONDO:0003747 A glomus tumor characterized by huge vascular channel formations. telangiectatic glomangioma telangiectatic glomangioma MONDO:0003748 An overwhelming, irrational, and persistent fear of traveling in an aircraft. flying phobia MONDO:0003749 A non-neoplastic or neoplastic disorder that affects the esophagus. Representative examples of non-neoplastic disorders include esophagitis and esophageal ulcer. Representative examples of neoplastic disorders include carcinomas, lymphomas, and melanomas. disease of esophagus disease or disorder of esophagus disorder of esophagus esophageal disorder esophagus disease esophagus disease or disorder esophageal ulcer esophageal disorder MONDO:0003750 A germ cell tumor of the central nervous system occurring in children. central nervous system germ cell tumor central nervous system childhood germ cell tumor central nervous system pediatric germ cell cancer childhood CNS germ cell neoplasm childhood CNS germ cell tumor childhood central nervous system germ cell neoplasm childhood central nervous system germ cell tumor childhood germ cell neoplasm of CNS childhood germ cell neoplasm of central nervous system childhood germ cell neoplasm of the CNS childhood germ cell neoplasm of the central nervous system childhood germ cell tumor of CNS childhood germ cell tumor of central nervous system childhood germ cell tumor of the CNS childhood germ cell tumor of the central nervous system pediatric CNS germ cell neoplasm pediatric CNS germ cell tumor pediatric central nervous system germ cell neoplasm pediatric central nervous system germ cell tumor pediatric germ cell neoplasm of CNS pediatric germ cell neoplasm of central nervous system pediatric germ cell neoplasm of the CNS pediatric germ cell neoplasm of the central nervous system pediatric germ cell tumor of CNS pediatric germ cell tumor of central nervous system pediatric germ cell tumor of the CNS pediatric germ cell tumor of the central nervous system childhood central nervous system germ cell tumor MONDO:0003751 A germ cell tumor that occurs during childhood. germ cell tumor childhood germ cell neoplasm childhood germ cell tumor pediatric germ cell neoplasm pediatric germ cell tumor pediatric germ cell cancer childhood germ cell tumor MONDO:0003752 A papilloma that arises from the ciliated respiratory mucosa that lines the frontal sinus. It is classified as inverted papilloma and oncocytic papilloma. Schneiderian papilloma of the frontal sinus frontal sinus Schneiderian papilloma Schneiderian papilloma of frontal sinus frontal sinus Schneiderian papilloma MONDO:0003753 A benign exophytic squamous cell neoplasm with papillary growth that arises from the nasal vestibule. nasal vestibule papilloma nasal vestibule squamous papilloma papilloma of nasal vestibule papilloma of the nasal vestibule squamous papilloma of nasal vestibule squamous papilloma of the nasal vestibule nasal vestibule squamous papilloma MONDO:0003754 Brown-Sequard syndrome is a rare neurological condition that results from an injury or damage to one side of the spinal cord. This condition results in weakness or paralysis on one side of the body (hemiparaplegia) and a loss of sensation on the opposite side (hemianesthesia). Brown-Sequard syndrome most commonly occurs in the the thoracic spine (upper and middle back). There are several causes of Brown-Sequard syndrome, including: a spinal cord tumor, trauma (such as a puncture wound to the neck or back), infectious or inflammatory diseases (tuberculosis or multiple sclerosis), and disk herniation. Treatment for this condition varies depending on the underlying cause. Brown-Squard syndrome Hemicord syndrome Hemiparaplegic syndrome Hemispinal cord syndrome Brown-Sequard syndrome https://rarediseases.info.nih.gov/diseases/5964/brown-sequard-syndrome MONDO:0003755 non-invasive transitional cell neoplasm of the urinary tract non-invasive urothelial neoplasm urinary tract non-invasive transitional cell neoplasm MONDO:0003756 A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract. mucinous neoplasm of ovary mucinous neoplasm of the ovary mucinous tumor of ovary mucinous tumor of the ovary ovarian mucinous neoplasm ovarian mucinous tumor malignant ovarian mucinous neoplasm ovarian mucinous neoplasm MONDO:0003757 Complete paralysis of the lower half of the body including both legs, often caused by damage to the spinal cord. paraplegia, lower severe or complete loss of motor function in the lower extremities and lower portions of the trunk paraplegia https://rarediseases.info.nih.gov/diseases/7327/paraplegia MONDO:0003758 A germ cell tumor that arises from the testis during childhood. testicular germ cell tumor childhood testicular germ cell neoplasm childhood testicular germ cell tumor pediatric testicular germ cell neoplasm pediatric testicular germ cell tumor testicular germ cell tumor of childhood childhood testicular germ cell tumor MONDO:0003759 A yolk sac tumor that arises from the ovary and occurs in children. childhood ovarian endodermal sinus neoplasm childhood ovarian yolk sac tumor ovary childhood endodermal sinus tumor pediatric ovarian yolk Sac tumor childhood ovarian endodermal sinus tumor childhood ovarian yolk Sac neoplasm pediatric ovarian endodermal sinus neoplasm pediatric ovarian endodermal sinus tumor pediatric ovarian yolk Sac neoplasm childhood ovarian yolk sac tumor MONDO:0003760 A germ cell tumor that arises from the ovary and occurs in children. ovarian germ cell tumor childhood ovarian germ cell neoplasm childhood ovarian germ cell tumor ovarian germ cell tumor of childhood pediatric ovarian germ cell neoplasm pediatric ovarian germ cell tumor pediatric ovarian germ cell tumor MONDO:0003761 A melanoma that arises from leptomeningeal melanocytes. leptomeningeal melanoma leptomeninx melanoma leptomeninx melanoma (disease) malignant melanoma of meninges melanoma (disease) of leptomeninx melanoma of the leptomeninges meningeal melanoma melanoma of leptomeninges Editor note: TODO check meninx vs leptomeninges leptomeningeal melanoma MONDO:0003762 A primary or metastatic malignant tumor involving the leptomeninges. cancer of leptomeninx leptomeninx cancer malignant leptomeningeal neoplasm malignant leptomeningeal tumor malignant leptomeninx neoplasm malignant neoplasm of leptomeninx malignant tumor of leptomeninges leptomeningeal cancer malignant neoplasm of leptomeninges malignant neoplasm of the leptomeninges malignant tumor of the leptomeninges malignant leptomeningeal tumor MONDO:0003763 An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by dissociative symptoms; vivid recollections of the traumatic event; avoidance of stimuli associated with the traumatic event; and a constant state of hyperarousal for no more than one month. acute stress reaction traumatic stress disorder acute stress disorder MONDO:0003764 A melanoma that arises from leptomeningeal melanocytes and occurs in childhood. childhood leptomeningeal melanoma childhood meningeal melanoma pediatric meningeal melanoma pediatric leptomeningeal melanoma MONDO:0003765 A melanoma that arises from leptomeningeal melanocytes and occurs in adulthood. adult leptomeningeal melanoma adult meningeal melanoma melanoma of adult leptomeninges melanoma of the adult leptomeninges adult leptomeningeal melanoma MONDO:0003766 A cancer involving a dorsal plus ventral thalamus. cancer of dorsal plus ventral thalamus dorsal plus ventral thalamus cancer malignant dorsal plus ventral thalamus neoplasm malignant neoplasm of dorsal plus ventral thalamus malignant neoplasm of thalamus malignant neoplasm of the thalamus malignant thalamic neoplasm malignant thalamic neoplasms malignant thalamic tumor malignant thalamic tumors malignant thalamus neoplasm malignant thalamus neoplasms malignant thalamus tumor malignant thalamus tumors malignant tumor of thalamus malignant tumor of the thalamus tumor of thalamus thalamic neoplasm thalamic cancer MONDO:0003767 A disease involving the mitral valve. chronic rheumatic mitral valve disease of mitral valve disease or disorder of mitral valve disorder of mitral valve mitral RH valve dis. mitral valve disease mitral valve disease or disorder mitral valve disorder rheumatic disease of mitral valve rheumatic mitral insufficiency rheumatic mitral valve changes rheumatic mitral valve incompetence rheumatic mitral valve regurgitation mitral valve disorder MONDO:0003768 A rare cervical mucinous adenocarcinoma characterized by the presence of signet ring cells. cervical mucinous adenocarcinoma, signet Ring cell type cervical mucinous adenocarcinoma, signet Ring cell variant signet ring mucinous carcinoma signet ring cell variant cervical mucinous adenocarcinoma MONDO:0003769 Gastritis resulting from herpes virus. Herpesviridae caused viral gastritis Herpesviridae viral gastritis herpetic gastritis MONDO:0003770 A meningioma that arises from the meninges of the thoracic region of the spinal cord. meningioma of the thoracic spinal canal and spinal cord meningioma of thoracic spinal canal and spinal cord thoracic intraspinal meningioma thoracic spinal canal and spinal cord meningioma MONDO:0003771 A meningioma that affects the jugular foramen. jugular foramen meningioma (disease) meningioma (disease) of jugular foramen meningioma of jugular Foramen meningioma of the jugular Foramen jugular foramen meningioma MONDO:0003772 A meningioma that affects the cerebral hemispheres. cerebral hemispheric meningioma meningioma (disease) of telencephalon meningioma of cerebral hemispheres meningioma of cerebrum meningioma of the cerebral hemispheres meningioma of the cerebrum telencephalon meningioma (disease) cerebral meningioma MONDO:0003773 A cystic meningioma that grows within the cerebral hemispheres. intracerebral cystic meningioma MONDO:0003774 A meningioma that affects the cerebral sulcus. cerebral hemispheric convexity meningioma cerebral convexity meningioma MONDO:0003775 A meningioma that affects the lateral ventricle of the brain. meningioma (disease) of telencephalic ventricle meningioma of lateral ventricle meningioma of the lateral ventricle telencephalic ventricle meningioma (disease) lateral ventricle meningioma MONDO:0003776 A neoplasm of the renal pelvis in which the epithelial cells grow downward into the underlying supportive tissue. inverted papilloma of kidney pelvis inverted papilloma of renal pelvis inverted papilloma of the kidney pelvis inverted papilloma of the renal pelvis kidney pelvis inverted papilloma renal pelvis inverted papilloma renal pelvis inverted papilloma MONDO:0003777 A benign neoplasm of the renal pelvis that involves the transitional epithelium projecting above the surrounding epithelial surface and consisting of villous or arborescent outgrowths of fibrovascular stroma. renal pelvis urothelial papilloma renal pelvis urothelial papilloma MONDO:0003778 A disorder in which the immune system is unable to mount an adequate immune response. IEI hypoimmunity inborn errors of immunity primary immunodeficiency disease antibody deficiency syndrome antibody deficiency syndromes deficiency syndrome, antibody deficiency syndrome, immunologic deficiency syndrome, immunological deficiency syndromes, antibody deficiency syndromes, immunologic deficiency syndromes, immunological immune deficiency disorder immunodeficiency syndrome immunologic deficiency syndrome immunological deficiency syndrome immunological deficiency syndromes primary immunodeficiency syndrome, antibody deficiency syndrome, immunologic deficiency syndrome, immunological deficiency syndromes, antibody deficiency syndromes, immunologic deficiency syndromes, immunological deficiency inborn error of immunity MONDO:0003780 A broad classification of disorders that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective. T-cell immunodeficiency T-lymphocyte deficiency (finding) T-lymphocyte immunodeficiency T lymphocyte deficiency T-cell immunodeficiency MONDO:0003781 An acute or chronic inflammatory process affecting the bronchi. CI - chest infection bronchial infection bronchus inflammation inflammation of bronchus acute bronchitis chronic bronchitis acute bronchitis and bronchiolitis chest cold chest infection recurrent wheezy bronchitis bronchitis MONDO:0003782 A morphologic variant of leiomyosarcoma arising from the uterine corpus. It is characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm. body of uterus epithelioid leiomyosarcoma epithelioid leiomyosarcoma of body of uterus uterine corpus epithelioid leiomyosarcoma uterine epithelioid leiomyosarcoma uterine corpus epithelioid leiomyosarcoma MONDO:0003783 Reduction in the number of lymphocytes. lymphopenia (disease) lymphocytopenia lymphopenia lymphopenia (disease) lymphopenia MONDO:0003784 A in situ carcinoma that involves the nasal cavity. carcinoma in situ of nasal cavities carcinoma in situ of nasal cavity carcinoma in situ of the nasal cavity nasal cavity carcinoma in situ nasal cavity in situ carcinoma stage 0 carcinoma of nasal cavity stage 0 carcinoma of the nasal cavity stage 0 nasal cavity cancer stage 0 nasal cavity cancer aJCC v6, v7, and v8 stage 0 nasal cavity carcinoma stage 0 nasal cavity carcinoma aJCC v6 stage 0 nasal cavity carcinoma aJCC v7 stage 0 nasal cavity carcinoma aJCC v8 nasal cavity carcinoma in situ MONDO:0003785 A laboratory test result indicating a decreased number of white blood cells in the peripheral blood. White blood cell decreased leucopenia leukocytopenia leukopenia MONDO:0003786 A choriocarcinoma that arises from the testis during childhood. childhood choriocarcinoma of testis childhood choriocarcinoma of the testis childhood testicular choriocarcinoma choriocarcinoma of testis of childhood pediatric choriocarcinoma of testis pediatric choriocarcinoma of the testis pediatric testicular choriocarcinoma childhood testicular choriocarcinoma MONDO:0003787 A malignant mixed germ cell neoplasm that arises from the testis during childhood. childhood mixed testicular germ cell cancer mixed testicular germ cell cancer of childhood pediatric mixed testicular germ cell cancer childhood testicular mixed germ cell neoplasm childhood testicular mixed germ cell tumor pediatric testicular mixed germ cell neoplasm pediatric testicular mixed germ cell tumor childhood testicular mixed germ cell cancer MONDO:0003788 An embryonal carcinoma that arises from the testis during childhood. childhood embryonal carcinoma of testis childhood embryonal carcinoma of the testis childhood testicular embryonal carcinoma pediatric embryonal carcinoma of testis pediatric embryonal carcinoma of the testis pediatric testicular embryonal carcinoma testicular embryonal carcinoma of childhood childhood embryonal testis carcinoma MONDO:0003789 A familial carcinoma inherited in an autosomal dominant trait. It is characterized by the development of multiple, bilateral papillary renal cell carcinomas. The carcinomas range from microscopic lesions to clinically symptomatic tumors. It is associated with activating mutations of the MET oncogene. https://github.com/monarch-initiative/mondo/issues/4521 familial renal papillary carcinoma hereditary kidney papillary carcinoma hereditary papillary carcinoma of kidney hereditary papillary carcinoma of the kidney hereditary papillary renal carcinoma hereditary papillary renal cell cancer hereditary papillary renal cell carcinoma renal cell carcinoma, papillary renal cell carcinoma, papillary, 1, familial and somatic hereditary papillary renal cell carcinoma MONDO:0003790 An urothelial carcinoma that arises from the urothelial lining of the prostatic urethra. prostatic urethra urothelial carcinoma prostatic urethra urothelial carcinoma MONDO:0003791 A male urethral cancer that involves the prostatic urethra. male urethral cancer of prostatic urethra prostatic urethra male urethral cancer prostatic urethral malignant neoplasm prostatic urethral cancer MONDO:0003792 A highly aggressive malignant neoplasm arising from the ovary. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements. MMMT of the ovary carcinosarcoma of ovary carcinosarcoma of the ovary malignant mixed mesodermal Mullerian neoplasm of ovary malignant mixed mesodermal Mullerian neoplasm of the ovary malignant mixed mesodermal Mullerian tumor of ovary malignant mixed mesodermal Mullerian tumor of the ovary malignant mixed mesodermal Müllerian neoplasm of ovary malignant mixed mesodermal Müllerian neoplasm of the ovary malignant mixed mesodermal Müllerian tumor of ovary malignant mixed mesodermal Müllerian tumor of the ovary ovarian MMMT ovarian carcinosarcoma ovarian malignant mesodermal (Mullerian) mixed tumor ovarian malignant mesodermal (Müllerian) mixed tumor ovarian malignant mesodermal (mullerian) mixed tumor ovarian malignant mixed Mullerian neoplasm ovarian malignant mixed Mullerian tumor ovarian malignant mixed Müllerian neoplasm ovarian malignant mixed Müllerian tumor ovarian malignant mixed epithelial mesenchymal tumor ovarian malignant mixed mesodermal (Mullerian) tumor ovarian malignant mixed mesodermal (Müllerian) tumor ovarian malignant mixed mesodermal Mullerian neoplasm ovarian malignant mixed mesodermal Mullerian tumor ovarian malignant mixed mesodermal Müllerian neoplasm ovarian malignant mixed mesodermal Müllerian tumor ovary carcinosarcoma malignant mixed Müllerian tumor of the ovary ovarian carcinosarcoma/malignant mixed mesodermal tumor ovarian carcinosarcoma MONDO:0003795 A carcinoma that arises from the ovary and is characterized by the presence of small malignant cells. It includes small cell carcinoma, hypercalcemic type and small cell carcinoma, pulmonary type. SCCO ovarian small cell NEC ovarian small cell cancer ovarian small cell carcinoma ovarian small cell neuroendocrine carcinoma ovary small cell carcinoma small cell carcinoma of ovary small cell carcinoma of the ovary small cell ovarian carcinoma ovarian small cell carcinoma MONDO:0003796 A Kaposi sarcoma arising from the rectum. Kaposi's sarcoma (disease) of rectum Kaposi's sarcoma of rectum Kaposi's sarcoma of the rectum rectal Kaposi sarcoma rectal Kaposi's sarcoma rectum Kaposi sarcoma rectum Kaposi's sarcoma (disease) rectum Kaposi's sarcoma rectum Kaposi sarcoma MONDO:0003799 Inflammation of the conjunctiva of the eye. conjunctivitis (disease) conjunctiva inflammation conjunctivitis conjunctivitis (disease) inflammation of conjunctiva pink eye Madras eye conjunctivitis MONDO:0003800 A malignant hemangiopericytoma characterized by the presence of necrotic changes and in some cases high mitotic activity. conventional malignant hemangiopericytoma Editor note: check SFT/hemangiopericytoma/spindle cell tumor conventional malignant hemangiopericytoma MONDO:0003801 A squamous cell intraepithelial neoplasia that involves the cornea. cornea intraepithelial neoplasia cornea squamous cell intraepithelial neoplasia corneal intraepithelial neoplasia intraepithelial neoplasia of cornea intraepithelial neoplasia of the cornea corneal intraepithelial neoplasm MONDO:0003802 A malignant neoplasm involving the cornea. corneal tumor cancer of cornea cornea cancer malignant cornea neoplasm malignant cornea tumor malignant corneal neoplasm malignant corneal tumor malignant neoplasm of cornea malignant neoplasm of cornea (primary) malignant neoplasm of the cornea malignant tumor of cornea malignant tumor of the cornea cornea cancer MONDO:0003803 A disease involving the aortic valve. aortic valve disease aortic valve disease or disorder aortic valve disorder disease of aortic valve disease or disorder of aortic valve disorder of aortic valve aortic valve disorder MONDO:0003805 A rare neoplasm of mesothelial origin that arises from the pericardium. malignant mesothelioma (disease) of pericardium malignant mesothelioma of pericardium malignant mesothelioma of the pericardium malignant pericardial mesothelioma pericardial malignant mesothelioma pericardium malignant mesothelioma (disease) pericardium mesothelioma pericardial mesothelioma malignant pericardial mesothelioma MONDO:0003806 A rare, circumscribed or encapsulated tumor arising from the follicular cells of the thyroid gland. It is characterized by a trabecular growth pattern and hyalinized stroma formation. The vast majority of cases have a benign clinical course. PLAT hyalinizing trabecular adenoma of the thyroid hyalinizing trabecular adenoma of thyroid hyalinizing trabecular tumor paraganglioma-like adenoma thyroid gland hyalinizing trabecular tumor thyroid hyalinizing trabecular adenoma HTAT thyroid hyalinizing trabecular adenoma MONDO:0003808 An osteosarcoma arising from the mediastinum. mediastinal extraskeletal osteosarcoma mediastinal osteogenic sarcoma mediastinal osteosarcoma mediastinum osteosarcoma (disease) osteogenic sarcoma of mediastinum osteogenic sarcoma of the mediastinum osteosarcoma of mediastinum osteosarcoma of the mediastinum mediastinal extraskeletal osteosarcoma MONDO:0003809 A malignant hemangiopericytoma arising in the mediastinum. malignant hemangiopericytoma of mediastinum malignant hemangiopericytoma of the mediastinum malignant mediastinal hemangiopericytoma mediastinum hemangiopericytoma mediastinum spindle cell tumor Editor note: check SFT/hemangiopericytoma/spindle cell tumor malignant mediastinum hemangiopericytoma MONDO:0003810 A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a diffuse pattern. bladder diffuse clear cell adenocarcinoma bladder diffuse clear cell adenocarcinoma MONDO:0003811 A benign, borderline, or malignant mixed epithelial tumor of the ovary. It is characterized by the presence of more than one epithelial cell type, most often serous and endocervical-type mucinous. mixed epithelial neoplasm of ovary mixed epithelial neoplasm of the ovary mixed epithelial tumor of ovary mixed epithelial tumor of the ovary ovarian Seromucinous tumor ovarian mixed epithelial neoplasm ovarian mixed epithelial tumor ovarian seromucinous tumor MONDO:0003812 A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells. endometrioid neoplasm of ovary endometrioid tumor of ovary malignant ovarian endometrioid tumor ovarian endometrioid neoplasm ovary endometrioid tumor ovary female reproductive endometrioid cancer ovarian endometrial cancer MONDO:0003813 A benign, borderline, or malignant epithelial tumor that arises from the ovary and is characterized by the presence of papillary proliferations. Representative examples include surface papilloma, borderline serous surface papillary tumor, and serous surface papillary adenocarcinoma. ovarian papillary neoplasm ovarian papillary tumor ovarian papillary tumor (morphologic abnormality) ovarian papillary tumour papillary neoplasm of ovary papillary neoplasm of the ovary papillary tumor of ovary papillary tumor of the ovary ovarian papillary tumor MONDO:0003816 A disease involving the articular cartilage of joint. articular cartilage disorder articular cartilage of joint disease articular cartilage of joint disease or disorder disease of articular cartilage of joint disease or disorder of articular cartilage of joint disorder of articular cartilage of joint articular cartilage disorder involving ankle and foot articular cartilage disorder involving forearm articular cartilage disorder involving hand articular cartilage disorder involving multiple sites articular cartilage disorder involving pelvic region and thigh articular cartilage disorder involving shoulder region articular cartilage disorder involving upper arm articular cartilage disorder of ankle and/or foot articular cartilage disorder of forearm articular cartilage disorder of hand articular cartilage disorder of multiple sites articular cartilage disorder of shoulder region articular cartilage disorder of the pelvic region and thigh articular cartilage disorder of upper arm disorder of articular cartilage articular cartilage disorder MONDO:0003818 A mature teratoma that arises from the ovary and occurs in children. childhood mature ovarian teratoma childhood mature teratoma of ovary childhood ovarian mature teratoma mature ovarian teratoma of childhood pediatric mature ovarian teratoma pediatric mature teratoma of ovary pediatric mature teratoma of the ovary pediatric ovarian mature teratoma childhood mature teratoma of the ovary MONDO:0003819 A mature or immature teratoma that arises from the ovary and occurs in children. childhood ovarian teratoma childhood teratoma of ovary childhood teratoma of the ovary ovarian teratoma of childhood pediatric ovarian teratoma pediatric teratoma of ovary pediatric teratoma of the ovary childhood teratoma of the ovary MONDO:0003820 An ovarian teratoma which may be cystic, composed entirely of well differentiated, adult-type tissues, without evidence of fetal-type tissues. mature ovarian teratoma mature teratoma of ovary ovary mature teratoma mature teratoma mature teratoma of the ovary mature ovarian teratoma MONDO:0003821 A germ cell tumor that arises from the ovary and is composed of tissues that originate from two or three of the following germ layers, endoderm, ectoderm, or mesoderm. ovarian biphasic or triphasic teratoma ovarian biphasic or triphasic teratoma MONDO:0003822 A papillary neoplasm of the urinary bladder in which the transitional cells form papillae. The papillary structures exhibit minimal architectural distortion and minimal atypia. Mitoses are infrequent. Patients are at an increased risk of developing new papillary lesions. Occasionally, the new lesions are urothelial carcinomas. bladder PUNLMP bladder papillary neoplasm of low malignant potential non-invasive bladder papillary urothelial neoplasm papillary urothelial neoplasm of low malignant potential non-invasive bladder papillary urothelial neoplasm MONDO:0003824 An inherited condition characterized by the development of kidney oncocytomas which are often bilateral and multifocal. This condition may be connected to Birt-Hogg-Dube syndrome. familial renal oncocytoma hereditary kidney oncocytoma hereditary renal oncocytoma hereditary kidney oncocytoma MONDO:0003825 A benign tumor of the kidney, characterized by the presence of large cells with abundant eosinophilic granular cytoplasm. The majority of these tumors are discovered incidentally, during work-up of other conditions. kidney oncocytic neoplasm kidney oncocytoma oncocytoma of kidney oncocytoma of the kidney renal epithelial oncocytic neoplasm renal epithelial oncocytic tumor renal oncocytoma ROCY oncocytoma kidney oncocytoma renal kidney oncocytoma https://rarediseases.info.nih.gov/diseases/8477/renal-oncocytoma MONDO:0003826 An extragonadal malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of uniform cells with clear or eosinophilic cytoplasm, round nucleus with one or more nucleoli, and distinct cellular borders. It usually arises from the anterior mediastinum. It may present with respiratory distress, chest pain, or superior vena cava syndrome or it may be asymptomatic, with the tumor detected on routine chest x-ray. The prognosis of mediastinal pure seminomas is favorable compared to the mediastinal non-seminomatous malignant germ cell tumors. mediastinal seminoma mediastinum seminoma seminoma of mediastinum seminoma of the mediastinum mediastinum seminoma MONDO:0003827 A broad classification for humoral immunodeficiencies. These disorders may be caused by inadequate activation of progenitor B cells, defective class-switching or the effects of medications. Despite the potential for increased susceptibility to infection, these disorders are self-limited with eventual normalization of serum antibody levels. transient hypogammaglobulinemia MONDO:0003828 A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces growth hormone. It may be associated with acromegaly. Growth hormone producing pituitary gland carcinoma Growth hormone-producing pituitary gland carcinoma malignant Growth hormone producing neoplasm of pituitary malignant Growth hormone producing neoplasm of pituitary gland malignant Growth hormone producing neoplasm of the pituitary malignant Growth hormone producing neoplasm of the pituitary gland malignant Growth hormone producing pituitary gland neoplasm malignant Growth hormone producing pituitary gland tumor malignant Growth hormone producing pituitary neoplasm malignant Growth hormone producing pituitary tumor malignant Growth hormone producing tumor malignant Growth hormone producing tumor of pituitary malignant Growth hormone producing tumor of pituitary gland malignant Growth hormone producing tumor of the pituitary malignant Growth hormone producing tumor of the pituitary gland malignant Growth hormone secreting neoplasm of pituitary malignant Growth hormone secreting neoplasm of pituitary gland malignant Growth hormone secreting neoplasm of the pituitary malignant Growth hormone secreting neoplasm of the pituitary gland malignant Growth hormone secreting pituitary gland neoplasm malignant Growth hormone secreting pituitary gland tumor malignant Growth hormone secreting pituitary neoplasm malignant Growth hormone secreting pituitary tumor malignant Growth hormone secreting tumor of pituitary malignant Growth hormone secreting tumor of pituitary gland malignant Growth hormone secreting tumor of the pituitary malignant Growth hormone secreting tumor of the pituitary gland malignant Somatotrophinoma of pituitary malignant Somatotrophinoma of pituitary gland malignant Somatotrophinoma of the pituitary gland malignant pituitary Somatotrophinoma malignant pituitary gland Somatotrophinoma malignant pituitary gland somatotropinoma malignant pituitary somatotropinoma malignant somatotropinoma malignant somatotropinoma of pituitary malignant somatotropinoma of pituitary gland malignant somatotropinoma of the pituitary malignant somatotropinoma of the pituitary gland growth hormone-producing pituitary gland carcinoma MONDO:0003829 A controversial term, used for renal papillary lesions which measure 1cm or less in diameter and contain small, regular nuclei. chromophil adenoma of the kidney papillary adenoma of the kidney renal papillary adenoma chromophil adenoma of the kidney MONDO:0003830 type 1 papillary adenoma of the kidney type 1 renal papillary adenoma type 1 papillary adenoma of the kidney MONDO:0003831 type 2 papillary adenoma of the kidney type 2 renal papillary adenoma type 2 papillary adenoma of the kidney MONDO:0003832 A genetic deficiency of any of the component of the complement system (including the classical, alternative, and terminal pathway components), that can either be acquired or inherited. complement activation disease complement deficiency complement deficiency disease disorder of complement activation immunodeficiency due to a complement cascade component deficiency complement deficiency MONDO:0003834 A carcinoma that arises from epithelial cells of the cardia of stomach. cancer of gastric cardia cancer of the gastric cardia carcinoma of cardia of stomach carcinoma of gastric cardia carcinoma of the cardia of the stomach carcinoma of the gastric cardia cardia of stomach carcinoma gastric cardia (stomach) cancer gastric cardia cancer gastric cardia carcinoma MONDO:0003835 A carcinoma that arises from glandular epithelial cells of the cardia of stomach. adenocarcinoma of cardia of stomach adenocarcinoma of the cardia of the stomach adenocarcinoma of the gastric cardia cardia of stomach adenocarcinoma adenocarcinoma of gastric cardia gastric cardia adenocarcinoma MONDO:0003836 A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces thyrotropin. TSH producing pituitary gland carcinoma TSH-producing pituitary gland carcinoma malignant TSH producing neoplasm of pituitary malignant TSH producing neoplasm of pituitary gland malignant TSH producing neoplasm of the pituitary malignant TSH producing neoplasm of the pituitary gland malignant TSH producing pituitary gland neoplasm malignant TSH producing pituitary gland tumor malignant TSH producing pituitary neoplasm malignant TSH producing pituitary tumor malignant TSH producing tumor of pituitary malignant TSH producing tumor of pituitary gland malignant TSH producing tumor of the pituitary malignant TSH producing tumor of the pituitary gland malignant TSH secreting neoplasm of pituitary malignant TSH secreting neoplasm of pituitary gland malignant TSH secreting neoplasm of the pituitary malignant TSH secreting neoplasm of the pituitary gland malignant TSH secreting pituitary gland neoplasm malignant TSH secreting pituitary gland tumor malignant TSH secreting pituitary neoplasm malignant TSH secreting pituitary tumor malignant TSH secreting tumor of pituitary malignant TSH secreting tumor of pituitary gland malignant TSH secreting tumor of the pituitary malignant TSH secreting tumor of the pituitary gland malignant pituitary gland thyrotropinoma malignant pituitary thyrotropinoma malignant thyroid stimulating hormone producing neoplasm of pituitary malignant thyroid stimulating hormone producing neoplasm of pituitary gland malignant thyroid stimulating hormone producing neoplasm of the pituitary malignant thyroid stimulating hormone producing neoplasm of the pituitary gland malignant thyroid stimulating hormone producing pituitary gland neoplasm malignant thyroid stimulating hormone producing pituitary gland tumor malignant thyroid stimulating hormone producing pituitary neoplasm malignant thyroid stimulating hormone producing pituitary tumor malignant thyroid stimulating hormone producing tumor malignant thyroid stimulating hormone producing tumor of pituitary malignant thyroid stimulating hormone producing tumor of pituitary gland malignant thyroid stimulating hormone producing tumor of the pituitary malignant thyroid stimulating hormone producing tumor of the pituitary gland malignant thyroid stimulating hormone secreting neoplasm of pituitary malignant thyroid stimulating hormone secreting neoplasm of pituitary gland malignant thyroid stimulating hormone secreting neoplasm of the pituitary malignant thyroid stimulating hormone secreting neoplasm of the pituitary gland malignant thyroid stimulating hormone secreting pituitary gland neoplasm malignant thyroid stimulating hormone secreting pituitary gland tumor malignant thyroid stimulating hormone secreting pituitary neoplasm malignant thyroid stimulating hormone secreting pituitary tumor malignant thyroid stimulating hormone secreting tumor of pituitary malignant thyroid stimulating hormone secreting tumor of pituitary gland malignant thyroid stimulating hormone secreting tumor of the pituitary malignant thyroid stimulating hormone secreting tumor of the pituitary gland malignant thyrotropinoma malignant thyrotropinoma of pituitary malignant thyrotropinoma of pituitary gland malignant thyrotropinoma of the pituitary malignant thyrotropinoma of the pituitary gland thyrotropin producing pituitary gland carcinoma malignant thyroid stimulating hormone producing neoplasm of pituitary gland MONDO:0003837 An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces thyrotropin. TSH producing neoplasm of pituitary TSH producing neoplasm of pituitary gland TSH producing neoplasm of the pituitary TSH producing neoplasm of the pituitary gland TSH producing pituitary gland neoplasm TSH producing pituitary gland tumor TSH producing pituitary neoplasm TSH producing pituitary tumor TSH producing tumor of pituitary TSH producing tumor of pituitary gland TSH producing tumor of the pituitary TSH producing tumor of the pituitary gland TSH secreting neoplasm of pituitary TSH secreting neoplasm of pituitary gland TSH secreting neoplasm of the pituitary TSH secreting neoplasm of the pituitary gland TSH secreting pituitary gland neoplasm TSH secreting pituitary gland tumor TSH secreting pituitary neoplasm TSH secreting pituitary tumor TSH secreting tumor of pituitary TSH secreting tumor of pituitary gland TSH secreting tumor of the pituitary TSH secreting tumor of the pituitary gland TSH-producing pituitary gland neoplasm TSH-producing pituitary gland tumor thyroid stimulating hormone producing neoplasm of pituitary thyroid stimulating hormone producing neoplasm of pituitary gland thyroid stimulating hormone producing neoplasm of the pituitary thyroid stimulating hormone producing neoplasm of the pituitary gland thyroid stimulating hormone producing pituitary gland neoplasm thyroid stimulating hormone producing pituitary gland tumor thyroid stimulating hormone producing pituitary neoplasm thyroid stimulating hormone producing pituitary tumor thyroid stimulating hormone producing tumor of pituitary thyroid stimulating hormone producing tumor of pituitary gland thyroid stimulating hormone producing tumor of the pituitary thyroid stimulating hormone producing tumor of the pituitary gland thyroid stimulating hormone producing tumour thyroid stimulating hormone secreting neoplasm of pituitary thyroid stimulating hormone secreting neoplasm of pituitary gland thyroid stimulating hormone secreting neoplasm of the pituitary thyroid stimulating hormone secreting neoplasm of the pituitary gland thyroid stimulating hormone secreting pituitary gland neoplasm thyroid stimulating hormone secreting pituitary gland tumor thyroid stimulating hormone secreting pituitary neoplasm thyroid stimulating hormone secreting pituitary tumor thyroid stimulating hormone secreting tumor of pituitary thyroid stimulating hormone secreting tumor of pituitary gland thyroid stimulating hormone secreting tumor of the pituitary thyroid stimulating hormone secreting tumor of the pituitary gland thyrotropin producing pituitary gland neoplasm TSH secreting adenoma of the pituitary thyrotroph adenoma TSH-oma thyrotropin-secreting pituitary adenoma TSH producing pituitary tumor MONDO:0003839 A malignant neoplasm of the ovary with an invasive epithelial component and a fibrotic stroma. The epithelial component is characterized by the presence of malignant epithelial cells with intracytoplasmic mucin. Cystic spaces are also present which contain mucoid material. ovarian mucinous adenocarcinofibroma ovarian mucinous malignant adenofibroma ovarian mucinous adenocarcinofibroma MONDO:0003840 A rare benign adipose tissue neoplasm of the epicardium of the heart. epicardial lipoma epicardium lipoma lipoma of epicardium lipoma of the epicardium epicardium lipoma MONDO:0003841 A rare benign adipose tissue neoplasm of the heart usually originating in the epicardial or pericardial fatty tissue. Cardiac lipoma heart lipoma lipoma of heart lipoma of the heart heart lipoma MONDO:0003842 Benign and malignant astrocytomas that arise from astrocytes in the cerebellum. More than 80% of childhood cerebellar astrocytomas are pilocytic astrocytomas which have a favorable prognosis. The remainder are composed of diffuse or fibrillary subtypes with malignant astrocytomas occurring only rarely in the cerebellum during childhood. cerebellar astrocytoma cerebellum childhood astrocytic tumor cerebellum juvenile astrocytoma childhood astrocytic tumor of cerebellum childhood astrocytoma of cerebellum childhood astrocytoma of the cerebellum childhood cerebellar astrocytoma pediatric astrocytoma of cerebellum pediatric astrocytoma of the cerebellum pediatric cerebellar astrocytoma cerebellar astrocytoma, childhood childhood cerebellar astrocytic neoplasm MONDO:0003843 A rare benign adipose tissue neoplasm within the cerebral hemisphere often associated with partial or complete agenesis of the corpus callosum. cerebral hemisphere lipoma lipoma of cerebral hemisphere lipoma of the cerebral hemisphere cerebral hemisphere lipoma MONDO:0003844 A rare benign adipose tissue neoplasm of the central nervous system frequently found in midline locations such as the corpus callosum, the quadrigeminal plate, the hypothalamus, the spinal canal or the cauda equina. Some contain Schwann cells, bone, cartilage or hamartomatous blood vessels. CNS lipoma central nervous system lipoma lipoma of CNS lipoma of central nervous system lipoma of the CNS lipoma of the central nervous system central nervous system lipoma MONDO:0003845 A rare benign adipose tissue neoplasm of the corpus callosum. corpus callosum lipoma lipoma of corpus callosum lipoma of the corpus callosum corpus callosum lipoma MONDO:0003846 Viral infection of the esophagus. It often occurs in immunocompromised patients and it is caused by cytomegalovirus or herpes simplex virus. Symptoms include pain on swallowing, fever, and retrosternal burning. Viruses caused esophagitis (disease) Viruses esophagitis (disease) viral esophagitis viral esophagitis MONDO:0003847 A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome. genetic condition genetic disease genetic disorder hereditary disease hereditary disease or disorder hereditary diseases inherited disease inherited genetic disease molecular disease Mendelian disease familial disorder inborn disorder Usage note: this is intended only for diseases with an inherited genetic etiology. Somatic genetic mutations are excluded. Some ontologies use the term 'genetic disease' in the sense of inherited disorders only, we are here careful to distinguish. hereditary disease MONDO:0003848 A condition in which the thymus gland is abnomally located; this can be secondary to failure of descent during fetal development, or failure of involution. ectopic thymus ectopic thymus MONDO:0003849 A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the clivus. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells. chordoma (disease) of clivus of occipital bone chordoma of clivus chordoma of the clivus clival chordoma clivus of occipital bone chordoma (disease) clivus chordoma MONDO:0003850 A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the clivus. It is characterized by a lobulated growth pattern, myxoid stroma formation, the presence of physaliphorous cells and cartilage. chondroid chordoma of clivus chondroid chordoma of clivus of occipital bone chondroid chordoma of the clivus clivus of occipital bone chondroid chordoma clivus chondroid chordoma MONDO:0003851 A rare type of teratoma that arises from the ovary and resembles a malformed fetus. homunculus ovarian fetiform teratoma ovarian fetiform teratoma MONDO:0003852 A mature teratoma that arises from the ovary and presents as a large solid mass. It contains multiple cysts that vary in size. Small foci of hemorrhage are also present. ovarian solid teratoma MONDO:0003853 A carcinoma that arises from glandular epithelial cells of the major vestibular gland. Bartholin gland adenocarcinoma adenocarcinoma of the Bartholin's gland major vestibular gland adenocarcinoma adenocarcinoma of Bartholin's gland Bartholin gland adenocarcinoma MONDO:0003856 A malignant hemangiopericytoma occurring in the adult population. adult hemangiopericytoma, malignant hemangiopericytoma, malignant of adults malignant adult hemangiopericytoma Editor note: check SFT/hemangiopericytoma/spindle cell tumor adult malignant hemangiopericytoma MONDO:0003857 A solitary fibrous tumor/hemangiopericytoma, grade 3 that arises from the brain and occurs in the adult population. adult intracranial anaplastic hemangiopericytoma adult intracranial solitary fibrous tumor/hemangiopericytoma, grade 3 adult malignant intracranial hemangiopericytoma central nervous system solitary fibrous tumor/hemangiopericytoma, grade 3 malignant adult intracranial hemangiopericytoma Editor note: check SFT/hemangiopericytoma/spindle cell tumor adult intracranial malignant hemangiopericytoma MONDO:0003858 A meningioma that affects the anterior visual pathway. anterior visual pathway meningioma anterior optic tract meningioma MONDO:0003859 Meningiomas that affects both optic nerves. bilateral meningioma of the optic nerve bilateral optic nerve meningioma bilateral meningioma of optic nerve MONDO:0003860 A meningioma that affects the cerebellopontine angle. C-P angle meningioma cerebellar Pontine angle meningioma cerebellopontine angle meningioma (disease) meningioma (disease) of cerebellopontine angle meningioma of C-P angle meningioma of cerebellar Pontine angle meningioma of cerebellopontine angle meningioma of the C-P angle meningioma of the cerebellar Pontine angle meningioma of the cerebellopontine angle cerebellopontine angle meningioma MONDO:0003861 An eccrine adenocarcinoma that arises from the sweat glands in the vulva. eccrine carcinoma of mammalian vulva mammalian vulva eccrine carcinoma vulvar eccrine adenocarcinoma vulvar eccrine adenocarcinoma MONDO:0003862 A malignant peripheral nerve sheath tumor characterized by the presence of malignant cells that contain melanin and formation of psammoma bodies. melanocytic psammomatous MPNST melanocytic psammomatous malignant peripheral nerve sheath tumor melanotic psammomatous malignant peripheral nerve sheath tumor melanotic psammomatous malignant peripheral nerve sheath tumor MONDO:0003863 A rare variant of malignant peripheral nerve sheath tumor. It is characterized by the presence of malignant cells that contain melanin. malignant melanocytic neoplasm of peripheral nerve sheath malignant melanocytic neoplasm of the peripheral nerve sheath malignant melanocytic peripheral nerve sheath tumor malignant melanotic peripheral nerve sheath tumor melanocytic MPNST melanotic malignant nerve sheath tumor melanotic malignant peripheral nerve sheath tumor melanotic malignant peripheral nerve sheath tumor (morphologic abnormality) melanotic malignant peripheral nerve sheath tumour malignant melanocytic neoplasm of the peripheral nerve sheath MONDO:0003864 An indolent, mature B-cell neoplasm composed of small, round B-lymphocytes. When the bone marrow and peripheral blood are involved, the term chronic lymphocytic leukemia is used. The term small lymphocytic lymphoma is restricted to cases which do not show leukemic involvement of the bone marrow and peripheral blood. CLL/SLL chronic lymphocytic leukemia/small lymphocytic lymphoma chronic lymphocytic leukemia/small lymphocytic lymphoma (morphologic abnormality) chronic lymphocytic leukemia/small lymphocytic lymphoma MONDO:0003865 A form of melanoma occurring most often on the plantar, palmar, subungual, and periungual skin. It presents as a pigmented macular lesion with irregular borders. Morphologically, it consists of atypical spindled and dendritic melanocytes. The epidermis is often hyperplastic and there is pagetoid infiltration of the epidermis by anaplastic cells. acral lentiginous melanoma (disease) acral lentiginous malignant melanoma acral lentiginous melanoma acral lentiginous melanoma (disease) acral lentiginous melanoma, malignant acral lentiginous melanoma, malignant (morphologic abnormality) malignant acral lentiginous melanoma ALM acral lentiginous malignant melanoma of skin acral melanoma palmar/plantar melanoma subungual melanoma acral lentiginous melanoma MONDO:0003866 An osteosarcoma arising from the liver. hepatic extraskeletal osteosarcoma hepatic osteogenic sarcoma hepatic osteosarcoma liver extraskeletal osteosarcoma liver osteogenic sarcoma liver osteosarcoma liver osteosarcoma (disease) osteogenic sarcoma of liver osteogenic sarcoma of the liver osteosarcoma of liver osteosarcoma of the liver liver extraskeletal osteosarcoma MONDO:0003867 A diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. Cells may spread into the Virchow-Robin spaces without frank invasion of the brain. Diffuse melanocytosis carries a poor prognosis even in the absence of histologic malignancy. (WHO) diffuse melanocytosis diffuse melanocytosis (morphologic abnormality) diffuse melanosis meningeal melanocytosis diffuse meningeal melanocytosis MONDO:0003868 A meningioma that affects the anterior foramen magnum. meningioma of anterior Foramen magnum meningioma of the anterior Foramen magnum anterior foramen magnum meningioma MONDO:0003869 An abnormal growth of the cells that comprise the tissues of the brainstem. While the tumor may be histologically benign, it can produce great morbidity due to its location. It presents most commonly in the first two decades of life. brain stem glioma brain stem glioma of childhood childhood brain stem glioma childhood brainstem glioma childhood glioma of brain stem childhood glioma of brainstem childhood glioma of the brain stem childhood glioma of the brainstem pediatric brain stem glioma pediatric brainstem glioma pediatric glioma of brain stem pediatric glioma of brainstem pediatric glioma of the brain stem pediatric glioma of the brainstem childhood brain stem glioma https://rarediseases.info.nih.gov/diseases/9306/childhood-brain-stem-glioma MONDO:0003870 An astrocytoma that arises from the brain stem and occurs during childhood. brain stem astrocytic neoplasm of childhood childhood brain stem astrocytic neoplasm childhood brain stem astrocytoma childhood brainstem astrocytoma pediatric brain stem astrocytic neoplasm childhood brainstem astrocytoma MONDO:0003872 A serous cystadenoma of the ovary characterized by the presence of small papillary projections in the inner surface of the cysts. ovarian papillary cystadenoma ovarian papillary cystadenoma MONDO:0003873 A benign serous neoplasm characterized by the presence of papillary proliferations on the surface of the ovary. ovarian surface papilloma ovarian surface papilloma MONDO:0003874 A serous adenocarcinoma that arises from the ovary and is characterized by the presence of a papillary architectural pattern. ovarian serous surface papillary adenocarcinoma ovary papillary carcinoma serous surface papillary carcinoma of ovary serous surface papillary carcinoma of the ovary ovarian serous surface papillary adenocarcinoma MONDO:0003875 A mature teratoma that arises from the central nervous system during childhood. central nervous system mature teratoma of childhood childhood central nervous system mature teratoma pediatric central nervous system mature teratoma childhood central nervous system mature teratoma MONDO:0003876 A carcinoma that arises from epithelial cells of the eyelid. carcinoma of eyelid carcinoma of the eyelid eyelid carcinoma eyelid carcinoma MONDO:0003878 A uveal melanoma that arises from the choroid. It is the most common primary malignant intraocular tumor. It usually affects Caucasians of northern European descent. It usually remains asymptomatic for a long period. When signs and symptoms occur, they include blurred vision, visual field loss, floaters, and ocular pain. Tumor size is the most important factor that relates to prognosis. choroid malignant melanoma choroid melanoma choroidal melanoma malignant melanoma of choroid malignant melanoma of the choroid melanoma (disease) of optic choroid melanoma of choroid melanoma of the choroid optic choroid melanoma optic choroid melanoma (disease) malignant choroid melanoma MONDO:0003879 A malignant neoplasm of the ovary characterized by the presence of malignant glandular cells resembling endometrial cells in a fibrotic stroma. ovarian endometrioid adenocarcinofibroma ovarian endometrioid malignant adenofibroma ovarian endometrioid adenocarcinofibroma MONDO:0003880 An infiltrating adenocarcinoma derived from ceruminous glands in the external auditory canal. carcinoma, ceruminous gland, malignant ceruminous adenocarcinoma ceruminous adenocarcinoma (morphologic abnormality) ceruminous carcinoma MONDO:0003881 An apocrine adenocarcinoma that arises from the sweat glands in the vulva. apocrine adenocarcinoma of mammalian vulva mammalian vulva apocrine adenocarcinoma vulvar apocrine adenocarcinoma vulvar apocrine adenocarcinoma MONDO:0003882 A usually aggressive malignant neoplasm arising from the central nervous system. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. CNS fibrosarcoma central nervous system fibrosarcoma central nervous system fibrosarcoma (disease) fibrosarcoma of CNS fibrosarcoma of central nervous system fibrosarcoma of the CNS fibrosarcoma of the central nervous system central nervous system fibrosarcoma MONDO:0003884 A benign adipose tissue neoplasm of the rectum. lipoma of rectum rectal lipoma rectum lipoma lipoma of the rectum MONDO:0003885 A rare benign adipose tissue neoplasm arising from the wall of the colon and rectum. colorectal lipoma large bowel lipoma large intestine lipoma lipoma of large bowel lipoma of large intestine lipoma of the large bowel lipoma of the large intestine colorectal lipoma MONDO:0003886 A benign neoplasm characterized by the presence of cystic structures lined by mucinous columnar epithelial cells in a fibrotic stroma. mucinous cystadenofibroma mucinous cystadenofibroma MONDO:0003887 A benign neoplasm of the ovary characterized by the presence of glands with mucinous columnar epithelial cells in a fibrotic stroma. mucinous adenofibroma of ovary ovarian mucinous adenofibroma ovary mucinous adenofibroma ovarian mucinous adenofibroma MONDO:0003888 A malignant testicular mixed germ cell neoplasm that occurs during childhood. It is characterized by the presence of embryonal carcinoma and teratoma components. childhood testicular mixed embryonal carcinoma and teratoma pediatric testicular teratocarcinoma childhood teratocarcinoma of testis childhood teratocarcinoma of the testis childhood testicular teratocarcinoma childhood testicular mixed embryonal carcinoma and teratoma MONDO:0003889 An invasive transitional cell carcinoma of the bladder characterized by the presence of clear cells. infiltrating bladder urothelial carcinoma, clear cell variant clear cell variant infiltrating bladder urothelial carcinoma infiltrating bladder urothelial carcinoma, clear cell variant MONDO:0003890 An invasive transitional cell carcinoma that arises from the urinary bladder urothelium. infiltrating bladder urothelial carcinoma infiltrating transitional cell carcinoma of the urinary bladder invasive bladder transitional cell carcinoma invasive bladder urothelial carcinoma invasive transitional cell carcinoma of the urinary bladder infiltrating bladder urothelial carcinoma MONDO:0003891 A signet ring cell carcinoma that involves the urinary bladder. bladder signet ring cell adenocarcinoma urinary bladder signet Ring adenocarcinoma urinary bladder signet ring cell carcinoma signet Ring cell adenocarcinoma of bladder signet Ring cell adenocarcinoma of the bladder signet Ring cell adenocarcinoma of the urinary bladder signet Ring cell adenocarcinoma of urinary bladder signet ring cell adenocarcinoma of bladder bladder signet ring cell adenocarcinoma MONDO:0003892 A morphologic variant of lung adenocarcinoma characterized by the presence of acinar structures composed of columnar or cuboidal cells. (NCI05) acinar adenocarcinoma of lung acinar adenocarcinoma of the lung acinar lung adenocarcinoma lung acinar adenocarcinoma acinar lung adenocarcinoma MONDO:0003893 A benign epithelial neoplasm arising from the rete testis. adenoma, rete testis, benign rete testis adenoma rete testis adenoma MONDO:0003894 A melanotic schwannoma that affects the mediastinum. mediastinal melanocytic schwannoma mediastinal melanotic schwannoma melanocytic neurilemmoma of mediastinum melanocytic neurilemmoma of the mediastinum melanocytic schwannoma of mediastinum melanocytic schwannoma of the mediastinum mediastinal melanocytic neurilemmoma MONDO:0003895 An intermediate grade malignant bone-forming mesenchymal neoplasm with chondroblastic differentiation. It arises from the surface of the bone and affects the diaphysis or diaphyseal- metaphyseal portion of the long bones. A painless mass or swelling is the most common clinical sign. It is associated with a better prognosis than conventional osteosarcoma. juxtacortical chondroblastic osteosarcoma periosteal osteogenic sarcoma periosteal osteosarcoma periosteal osteosarcoma (morphologic abnormality) PEOS periosteal osteogenic sarcoma MONDO:0003896 A capillary hemangioma arising from the breast. breast capillary angioma breast capillary hemangioma capillary angioma of breast capillary angioma of the breast capillary hemangioma of breast capillary hemangioma of the breast breast capillary hemangioma MONDO:0003897 A hemangioma characterized by the presence of epithelioid endothelial cells, arising from the breast. breast epithelioid hemangioma breast histiocytoid hemangioma epithelioid breast hemangioma epithelioid hemangioma of breast epithelioid hemangioma of the breast histiocytoid breast hemangioma histiocytoid hemangioma of breast histiocytoid hemangioma of the breast breast epithelioid hemangioma MONDO:0003898 A myxoid chondrosarcoma occurring in children. childhood myxoid chondrosarcoma myxoid chondrosarcoma of childhood pediatric myxoid chondrosarcoma pediatric myxoid chondrosarcoma MONDO:0003899 A myxoid chondrosarcoma occurring in adults. adult myxoid chondrosarcoma myxoid chondrosarcoma of adults adult myxoid chondrosarcoma MONDO:0003900 A disease involving the connective tissue. https://github.com/monarch-initiative/mondo/issues/3570 connective tissue disease connective tissue disease or disorder connective tissue diseases connective tissue disorder connective tissue disorders disease of connective tissue disease or disorder of connective tissue disease, connective tissue disorder of connective tissue primary disorder of connective tissue tissue disease, connective Following clinical usage of the term 'connective tissue disorder' this grouping excludes some diseases affecting tissues classically considered to be connective tissue, such as bone. connective tissue disorder MONDO:0003901 A histologically benign tumor, usually cystic with a vascular mural nodule, that is most often found in the cerebellum though it has been reported at other sites within the neuraxis. It is associated with von Hippel-Lindau disease (VHL gene located on chr 3p25-26). angioblastoma of cerebellum angioblastoma of the cerebellum cerebellar angioblastoma cerebellar capillary hemangioblastoma cerebellar hemangioblastoma cerebellum hemangioblastoma hemangioblastoma of cerebellum hemangioblastoma of the cerebellum cerebellar hemangioblastoma MONDO:0003902 A hemangioblastoma that involves the brainstem. angioblastoma of brain stem angioblastoma of brainstem angioblastoma of the brain stem angioblastoma of the brainstem brain stem angioblastoma brain stem capillary hemangioblastoma brain stem hemangioblastoma brainstem angioblastoma brainstem hemangioblastoma hemangioblastoma of brain stem hemangioblastoma of brainstem hemangioblastoma of the brain stem hemangioblastoma of the brainstem brain stem hemangioblastoma MONDO:0003903 A non-metastasizing, well circumscribed neoplasm that arises from the vagina and is characterized by the presence of a predominant benign mesenchymal component and benign glandular or squamous epithelial cells. benign vaginal mixed tumor vaginal spindle cell epithelioma benign vaginal mixed tumor MONDO:0003904 A squamous cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed. occult squamous cell carcinoma of the lung occult squamous cell lung carcinoma occult squamous cell carcinoma of lung lung occult squamous cell carcinoma MONDO:0003905 A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into endodermal type glandular structures. ovarian yolk Sac tumor, glandular pattern glandular pattern ovarian yolk sac tumor ovarian yolk sac tumor, glandular pattern MONDO:0003906 A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into hepatic tissue. ovarian yolk Sac tumor, hepatoid pattern hepatoid pattern ovarian yolk sac tumor ovarian yolk sac tumor, hepatoid pattern MONDO:0003907 A yolk sac tumor that arises from the ovary and is characterized by the presence of multiple dilated spaces lined by cells that resemble mesothelial cells. The dilated spaces coexist with columnar epithelial tissues. ovarian yolk sac tumor, polyvesicular vitelline pattern polyvesicular vitelline pattern ovarian yolk sac tumor ovarian yolk sac tumor, polyvesicular vitelline pattern MONDO:0003908 A meningioma that affects the clivus. clivus of occipital bone meningioma (disease) meningioma (disease) of clivus of occipital bone meningioma of clivus meningioma of the clivus clivus meningioma MONDO:0003909 A rare, benign neoplasm that arises from the Bartholin gland and is characterized by the presence of a fibromuscular stroma and glands lined by mucin-secreting epithelial cells, arranged in a lobular architecture. Bartholin gland adenomyoma adenomyoma of major vestibular gland major vestibular gland adenomyoma Bartholin gland adenomyoma MONDO:0003910 A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells. mixed cell uveal melanoma mixed cell uveal melanoma MONDO:0003911 A mixed cell uveal melanoma that involves the ciliary body. ciliary body mixed cell melanoma ciliary body mixed cell uveal melanoma mixed cell uveal melanoma of ciliary body ciliary body mixed cell melanoma MONDO:0003912 A rare uveal melanoma that arises from the ciliary body. Patients may present with blurred vision, visual field loss, floaters, and ocular pain. The prognosis is usually poor. ciliary body malignant melanoma ciliary body melanoma ciliary body melanoma (disease) malignant melanoma of ciliary body malignant melanoma of the ciliary body melanoma (disease) of ciliary body melanoma of ciliary body melanoma of the ciliary body malignant ciliary body melanoma MONDO:0003913 A mixed cell uveal melanoma that involves the optic choroid. choroid mixed cell melanoma mixed cell uveal melanoma of optic choroid optic choroid mixed cell uveal melanoma choroid mixed cell melanoma MONDO:0003915 A thymic epithelial neoplasm characterized by the presence of neoplastic large, polygonal epithelial cells with large vesicular nuclei and prominent nucleoli. The neoplastic cells are arranged around perivascular spaces and along septa. Immature T-lymphocytes are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It is a tumor of moderate malignancy. The majority of cases occur in the anterior mediastinum as Masaoka stage I, stage II, or stage III tumors. Metastatic, stage IV tumors occur less frequently. cortical thymoma polygonal cell thymoma thymoma type B2 thymoma, cortical cortical thymoma MONDO:0003916 An imbalanced nutritional status resulting from excessive intake of nutrients. Generally, overnutrition generates an energy imbalance between food consumption and energy expenditure leading to disorders such as obesity. overnutrition MONDO:0003917 An extranodal lymphoma that arises from the heart and/or the pericardium. The majority of the cases are diffuse large B-cell lymphomas. Patients may present with chest pain, heart failure, pericardial effusion, arrhythmia, or syncope. Cardiac lymphoma PCL Primary heart lymphoma heart lymphoma lymphoma of heart lymphoma of the heart primary Cardiac lymphoma heart lymphoma MONDO:0003918 A WHO grade I meningioma characterized by the presence of small and medium sized vessels that predominate over the meningioma cells. angiomatous meningioma (morphologic abnormality) angiomatous meningioma MONDO:0003921 A meningioma that affects the posterior foramen magnum. meningioma of posterior Foramen magnum meningioma of the posterior Foramen magnum posterior foramen magnum meningioma MONDO:0003922 A carcinoma arising from the ovary. It is characterized by the presence of malignant epithelial cells with clear cytoplasm in a fibrotic stroma. ovarian clear cell adenocarcinofibroma ovarian clear cell malignant adenofibroma ovarian clear cell malignant adenofibroma MONDO:0003923 A papilloma that arises from the ciliated respiratory mucosa that lines the ethmoid sinus. It is classified as inverted papilloma and oncocytic papilloma. Schneiderian papilloma of the ethmoid sinus ethmoid sinus Schneiderian papilloma Schneiderian papilloma of ethmoid sinus ethmoid sinus Schneiderian papilloma MONDO:0003924 A benign neoplasm that can arise from any of the adrenal cortical layers. It can be associated with the overproduction of glucocorticoids (Cushing's syndrome), androgenic or estrogenic steroids (adrenogenital syndrome), or mineralocorticoids (Conn's syndrome). (Sternberg Diagnostic Surgical Pathology, 3rd ed.) adenoma of adrenal cortex adenoma of adrenal gland adenoma of the adrenal cortex adenoma of the adrenal gland adenoma, adrenocortical, benign adrenal adenoma adrenal cortex adenoma adrenal cortical adenoma adrenal gland adenoma adrenocortical adenoma benign adenoma of adrenal gland benign adenoma of the adrenal gland benign adrenal adenoma benign adrenal gland adenoma cortical cell adenoma adrenal incidentaloma adrenal cortex adenoma MONDO:0003925 A benign neoplasm that arises from the ciliated respiratory mucosa that lines the ethmoid sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma. ethmoid sinus inverted papilloma inverted papilloma of ethmoid sinus inverted papilloma of the ethmoid sinus ethmoid sinus inverted papilloma MONDO:0003926 A schwannoma that involves the pleura. neurilemmoma of pleura pleura schwannoma pleural neurilemmoma pleural schwannoma schwannoma of pleura schwannoma of the pleura neurilemmoma of the pleura MONDO:0003927 medium/large size posterior uveal melanoma small size posterior uveal melanoma posterior uveal melanoma MONDO:0003928 A morphologic variant of leiomyosarcoma arising from the uterus corpus. It is characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma. body of uterus myxoid leiomyosarcoma myxoid leiomyosarcoma of body of uterus uterine corpus myxoid leiomyosarcoma uterine myxoid leiomyosarcoma uterine corpus myxoid leiomyosarcoma MONDO:0003929 A benign neoplastic process characterized by the presence of multiple vestibular papillomas in the vulva. micropapillomatosis labialis vestibular micropapillomatosis vestibular micropapillomatosis MONDO:0003930 Stage 0 includes: 0a (Ta, N0, M0); 0is (Tis, N0, M0). Ta: Noninvasive papillary carcinoma. Tis: Carcinoma in situ: "flat tumor". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.) non-invasive bladder urothelial carcinoma stage 0 bladder urothelial cancer stage 0 bladder urothelial carcinoma stage 0 bladder urothelial carcinoma aJCC v6 stage 0 bladder urothelial carcinoma aJCC v6 and v7 stage 0 bladder urothelial carcinoma aJCC v7 stage 0 transitional cell carcinoma of bladder stage 0 transitional cell carcinoma of the bladder stage 0 transitional cell carcinoma of the urinary bladder stage 0 transitional cell carcinoma of urinary bladder stage 0 urinary bladder transitional cell carcinoma non-invasive bladder urothelial carcinoma MONDO:0003931 An astrocytoma that arises from the visual pathway and occurs during childhood. childhood optic tract astrocytoma childhood visual pathway astrocytoma optic tract astrocytoma of childhood pediatric optic tract astrocytoma pediatric visual pathway astrocytoma childhood optic tract astrocytoma MONDO:0003932 A glioma affecting the optic tract and occurring in childhood. visual pathway glioma childhood optic tract glioma childhood visual pathway glioma glioma of childhood visual pathway glioma of pediatric visual pathway glioma of the childhood visual pathway glioma of the pediatric visual pathway optic nerve glioma of childhood pediatric optic nerve glioma pediatric optic tract glioma pediatric visual pathway glioma visual pathway and hypothalamic glioma, childhood childhood optic nerve glioma MONDO:0003933 An uncommon malignant neoplasm that arises from the chest wall bones. Representative examples include chondrosarcoma, osteosarcoma, and Ewing sarcoma/peripheral primitive neuroectodermal tumor. bone cancer of chest wall chest wall bone cancer malignant bone neoplasm of the chest wall malignant bone tumor of chest wall malignant bone tumor of the chest wall malignant chest wall bone neoplasm malignant chest wall bone tumor malignant bone neoplasm of chest wall chest wall bone cancer MONDO:0003934 An adenocarcinoma of the breast characterized by the presence of two intermingled cellular components: cells with abundant granular, eosinophilic cytoplasm, and cells with abundant cytoplasm containing fine empty vacuoles. apocrine adenocarcinoma of breast apocrine breast carcinoma apocrine carcinoma of breast apocrine carcinoma of the breast breast apocrine adenocarcinoma breast apocrine carcinoma breast apocrine carcinoma MONDO:0003935 A rare breast adenocarcinoma characterized by the presence of neoplastic oncocytic cells. The oncocytic cells comprise more than 70 percent of the malignant cellular population. oncocytic breast carcinoma oncocytic breast carcinoma MONDO:0003936 An invasive adenocarcinoma of the breast with a favorable prognosis. It is composed of tubular structures lined by a single layer of epithelium. breast tubular adenocarcinoma infiltrating tubular breast carcinoma infiltrating tubular carcinoma of breast infiltrating tubular carcinoma of the breast invasive tubular breast carcinoma invasive tubular carcinoma of breast invasive tubular carcinoma of the breast tubular breast cancer tubular breast carcinoma tubular carcinoma of breast tubular carcinoma of the breast invasive tubular breast carcinoma MONDO:0003937 The inflammation of a vertebra. inflammation of vertebra vertebra inflammation spondylitis MONDO:0003938 bladder colonic type adenocarcinoma bladder enteric type adenocarcinoma bladder colonic type adenocarcinoma MONDO:0003939 A disease involving the muscle tissue. https://github.com/monarch-initiative/mondo/issues/5166 disease of muscle organ disease of muscle tissue disease or disorder of muscle organ disease or disorder of muscle tissue disorder of muscle organ disorder of muscle tissue muscle organ disease muscle organ disease or disorder muscle tissue disease muscle tissue disease or disorder muscular disorder muscle tissue disorder MONDO:0003940 A disease that presents as vertebral osteonecrosis typically affecting a thoracic vertebra with compression deformity, intravertebral vacuum cleft, and exaggerated kyphosis weeks to months after a minor traumatic injury. Kummell disease Kummell's disease Kummell's spondylitis avascular necrosis of a vertebral body bony vertebral centrum osteonecrosis osteonecrosis of bony vertebral centrum traumatic spondylopathy Kummell disease MONDO:0003941 classic variant of chromophobe renal cell carcinoma classic variant of chromophobe renal cell carcinoma MONDO:0003942 eosinophilic variant of chromophobe renal cell carcinoma eosinophilic variant of chromophobe renal cell carcinoma MONDO:0003943 A rare benign slow growing adipose tumor, characterized by the presence of polygonal brown fat cells with abundant cytoplasm, that arises within the nervous system. central nervous system hibernoma hibernoma of central nervous system hibernoma of nervous system hibernoma of the central nervous system nervous system hibernoma central nervous system hibernoma MONDO:0003944 A benign smooth muscle neoplasm arising endobronchially. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. bronchus lung leiomyoma endobronchial leiomyoma lung leiomyoma of bronchus endobronchial leiomyoma MONDO:0003945 A locally aggressive hemangioma that arises from the bone. It is characterized by the presence of epithelioid endothelial cells. bone hemangioma bone epithelioid angioma bone epithelioid hemangioma epithelioid angioma of bone epithelioid angioma of the bone epithelioid hemangioma of bone epithelioid hemangioma of the bone hemangioma of bone osseous epithelioid angioma osseous epithelioid hemangioma osseous hemangioma Editor note: DO classifies this as benign bone epithelioid hemangioma MONDO:0003946 An adenoma that arises from the vagina and is characterized by a villous architectural pattern. vagina villous adenoma vaginal villous adenoma vaginal villous adenoma MONDO:0003947 A primary immune deficiency disorder characterized by defective CD40 signaling; via B cells affecting class switch recombination (CSR) and somatic hypermutation. immunodeficiency with hyper-IgM hyperimmunoglobulin M syndrome hyper-IgM syndrome MONDO:0003948 A hemangioma arising from the cerebral hemisphere. angioma of cerebral hemispheres angioma of cerebrum angioma of the cerebral hemispheres angioma of the cerebrum cerebral angioma cerebral hemangioma cerebral hemispheric angioma cerebral hemispheric hemangioma hemangioma of cerebral hemispheres hemangioma of cerebrum hemangioma of telencephalon hemangioma of the cerebral hemispheres hemangioma of the cerebrum telencephalon hemangioma cerebral hemangioma MONDO:0003950 A carcinoma that arises from epithelial cells of the nipple carcinoma of nipple nipple cancer nipple carcinoma nipple carcinoma MONDO:0003951 A hemangioma arising from the skin of the scrotum. angioma of scrotum angioma of the scrotum hemangioma of scrotum hemangioma of the scrotum scrotal angioma scrotal hemangioma scrotum hemangioma scrotal hemangioma MONDO:0003952 A choriocarcinoma of the central nervous system that occurs in an adult. central nervous system choriocarcinoma adult CNS choriocarcinoma adult central nervous system choriocarcinoma adult choriocarcinoma of the central nervous system choriocarcinoma of adult CNS choriocarcinoma of adult central nervous system choriocarcinoma of the adult CNS choriocarcinoma of the adult central nervous system choriocarcinoma of the central nervous system of adults adult central nervous system choriocarcinoma MONDO:0003953 A choriocarcinoma that arises from the central nervous system and occurs during childhood. Central nervous system choriocarcinoma childhood CNS choriocarcinoma childhood central nervous system choriocarcinoma childhood choriocarcinoma of the central nervous system choriocarcinoma of childhood CNS choriocarcinoma of childhood central nervous system choriocarcinoma of pediatric CNS choriocarcinoma of pediatric central nervous system choriocarcinoma of the central nervous system of childhood choriocarcinoma of the childhood CNS choriocarcinoma of the childhood central nervous system choriocarcinoma of the pediatric CNS choriocarcinoma of the pediatric central nervous system pediatric central nervous system choriocarcinoma pediatric choriocarcinoma of the central nervous system pediatric CNS choriocarcinoma MONDO:0003954 An angiokeratoma that is located on the scrotum or vulva. Fordyce angiokeratoma Fordyce's spot Fordyce-type angiokeratoma of scrotum angiokeratoma of Fordyce MONDO:0003955 A benign, usually solitary, well circumscribed multicystic neoplasm that arises from the breast and typically affects young females. The cysts are lined by papillary proliferations that contain epithelial and myoepithelial layers. In a minority of cases, atypia may be present. Swiss cheese disease juvenile breast papillomatosis juvenile papillomatosis of breast juvenile papillomatosis of the breast breast juvenile papillomatosis juvenile breast papillomatosis MONDO:0003956 Baastrup syndrome Baastrup's syndrome kissing spine Baastrup syndrome MONDO:0003957 A pineoblastoma occurring in adults. pineoblastoma adult pineoblastoma pineoblastoma of adults adult pineoblastoma MONDO:0003958 An immature teratoma that arises from the central nervous system and occurs during childhood. central nervous system immature teratoma of childhood childhood central nervous system immature teratoma pediatric central nervous system immature teratoma childhood central nervous system immature teratoma MONDO:0003959 A poorly differentiated neuroendocrine carcinoma that arises from the breast. It is characterized by the presence of large neuroendocrine cells and high mitotic activity. breast large cell neuroendocrine carcinoma large cell neuroendocrine carcinoma of breast breast large cell neuroendocrine carcinoma MONDO:0003960 A large cell neuroendocrine carcinoma that involves the lung(s). LCNEC of the lung large cell lung carcinoma with neuroendocrine differentiation large cell lung neuroendocrine carcinoma large cell neuroendocrine carcinoma of lung large cell neuroendocrine carcinoma of the lung lung large cell neuroendocrine carcinoma pulmonary large cell neuroendocrine carcinoma pulmonary large cell neuroendocrine carcinoma MONDO:0003962 Froelich syndrome is characterized by obesity and hypogonadism due to a hypothalamic-pituitary disorder. The hypothalamus is a part of the brain where certain functions such as sleep cycles and body temperature are regulated. The pituitary is a gland that makes hormones that affect growth and the functions of other glands in the body. Froehlich syndrome is acquired(i.e., not thought to be inherited or genetic). This syndrome appears to affect males more commonly. The term 'Froelich syndrome' is rarely used today. Babinski-Froelich syndrome Froehlich syndrome Froehlich's syndrome Froelich's syndrome Frohlich syndrome Frohlich's syndrome Frolich's syndrome Fröhlich syndrome Launois-Cleret syndrome adiposogenital syndrome dystrophia Adiposogenitalis hypothalamic infantilism-obesity sexual infantilism Adiposodysgenesis Froelich's adiposity adiposogenital dystrophy Froelich syndrome https://rarediseases.info.nih.gov/diseases/6463/froelich-syndrome MONDO:0003963 This is usually an oligoclonal CD8+ lymphocytic infiltration of various organs. diffuse infiltra. lymph. sydrome diffuse infiltra. lymph. syndrome diffuse infiltrative lymphocytosis syndrome MONDO:0003964 A disorder characterized by non-neoplastic bone formation in soft tissues. It usually follows blunt trauma and bleeding in the deep soft tissues. FOP Myisitis ossificans myositis ossificans progressiva ossification - muscle progressive myositis ossificans progressive ossifying myositis fibrodysplasia ossificans progressiva myositis ossificans MONDO:0003965 A rare neuropsychiatric disorder whose primary feature is the delusion that relatives or close acquaintances are not the persons that they are known to be. Visual recognition appears intact but familiar persons are thought be imposters, that is, they appear similar or identical to known individuals but are not. Most cases are seen in the context of a psychotic state. However, if manifested post-traumatically, the cause is most likely due to neurologic impairment. This disorder should be contrasted with prosopagnosia, in which an individual may not recognize a familiar person at all. Capgras delusion theory Capgras syndrome MONDO:0003966 A choriocarcinoma that arises from the testis and is characterized by the predominance of cytotrophoblastic and intermediate trophoblastic cells. Syncytiotrophoblastic cells are absent or not prominent. testicular monophasic choriocarcinoma MONDO:0003967 A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered within 6 months of the appearance of the initial tumor. It has a poor prognosis. synchronous multifocal osteosarcoma synchronous multifocal osteogenic sarcoma MONDO:0003968 A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered between 6 and 24 months after the appearance of the initial tumor. Patients with asynchronous tumors have a better prognosis than those with synchronous osteosarcomas. asynchronous multifocal osteosarcoma asynchronous multifocal osteogenic sarcoma MONDO:0003969 Disorders related or resulting from use of amphetamines. amphetamine abuse MONDO:0003970 A carcinoma that arises from epithelial cells of the fundus of stomach. cancer of fundus of stomach cancer of gastric fundus cancer of the fundus of the stomach cancer of the gastric fundus gastric fundus (stomach) cancer carcinoma of fundus of stomach carcinoma of gastric fundus carcinoma of the fundus of the stomach carcinoma of the gastric fundus fundus of stomach carcinoma gastric fundus cancer gastric fundus carcinoma MONDO:0003971 A carcinoma that arises from the pylorus. cancer of gastric pylorus cancer of pylorus of stomach cancer of the gastric pylorus cancer of the pylorus of the stomach carcinoma of gastric pylorus carcinoma of pylorus of stomach carcinoma of the gastric pylorus carcinoma of the pylorus of the stomach gastric pylorus (stomach) cancer gastric pylorus cancer gastric pylorus carcinoma gastric pylorus carcinoma MONDO:0003972 A carcinoma that arises from epithelial cells of the body of stomach. body of stomach carcinoma cancer of body of stomach cancer of gastric body cancer of the body of the stomach cancer of the gastric body carcinoma of body of stomach carcinoma of gastric body carcinoma of the body of the stomach carcinoma of the gastric body gastric body (stomach) cancer gastric body cancer gastric body carcinoma gastric body carcinoma MONDO:0003973 A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in tubular patterns and few lymphocytes. testicular seminoma, tubular variant tubular variant testicular seminoma MONDO:0003975 A carcinoma involving a male urethral gland. carcinoma of LittrC) glands carcinoma of Littre glands carcinoma of Littré glands carcinoma of male urethral gland male urethral gland carcinoma Littre gland carcinoma MONDO:0003976 A type AB thymoma which is characterized by an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize. malignant thymoma type AB malignant type AB thymoma thymoma type AB, malignant thymoma, mixed type, malignant malignant type AB thymoma MONDO:0003978 An aggressive, high-grade, and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the colon. It is characterized by the presence of malignant small cells. Oat cell carcinoma of colon Oat cell carcinoma of the colon Oat cell colon carcinoma colon Oat cell carcinoma colon small cell carcinoma colon small cell neuroendocrine cancer colon small cell neuroendocrine carcinoma colonic Oat cell carcinoma colonic small cell carcinoma small cell carcinoma of colon small cell carcinoma of the colon small cell colon carcinoma colon small cell neuroendocrine carcinoma MONDO:0003979 A mucinous cystic neoplasm that arises from the intrahepatic bile ducts. cystadenoma of the intrahepatic bile duct intrahepatic bile duct cystadenoma intrahepatic bile duct mucinous cystic neoplasm intrahepatic bile duct cystadenoma MONDO:0003980 A rare intracranial schwannoma that affects the jugular foramen. jugular Foramen neurilemmoma jugular foramen schwannoma neurilemmoma of jugular Foramen neurilemmoma of the jugular Foramen schwannoma of the jugular Foramen schwannoma of jugular foramen MONDO:0003982 Carcinoma that affects both breasts in a simultaneous or non-simultaneous manner. bilateral breast cancer bilateral breast carcinoma bilateral breast carcinoma MONDO:0003983 Carcinoma that is detected in one breast within two months from the diagnosis of carcinoma in the other breast. synchronous bilateral breast carcinoma MONDO:0003984 A rare benign adipose tissue neoplasm of the internal auditory canal, often presenting as an acoustic tumor. It may be intermixed with the vestibulocochlear nerve and may adhere to adjacent structures. inner Ear lipoma internal Ear lipoma internal acoustic meatus lipoma lipoma of internal acoustic meatus lipoma of internal auditory canal lipoma of the internal auditory canal internal auditory canal lipoma MONDO:0003985 A lymphoma that affects the structures of the chest wall. The majority of cases are diffuse large B-cell lymphomas. chest wall cancer chest wall lymphoma lymphoma of chest wall lymphoma of the chest wall primary chest wall lymphoma chest wall lymphoma MONDO:0003987 A rare non-Hodgkin or Hodgkin lymphoma that arises in and is confined to the lung at the time of diagnosis. lung lymphoma lymphoma of lung lymphoma of the lung primary lung lymphoma pulmonary lymphoma lung lymphoma MONDO:0003988 A rare lymphoma that arises from the bone or soft tissue of the sternum. lymphoma of sternum lymphoma of the sternum primary sternal lymphoma sternal lymphoma sternum lymphoma sternum lymphoma MONDO:0003989 A rare, malignant germ cell tumor arising from the ovary. It is characterized by the presence of embryoid bodies which resemble early embryos. ovarian polyembryoma polyembryoma polyembryoma of the ovary MONDO:0003990 An invasive malignant tumor that arises from the breast. It is characterized by the presence of spindle-shaped myoepithelial cells. Mitoses are present. Rarely, local recurrences and distant metastases have been reported. breast malignant myoepithelioma breast myoepithelial carcinoma malignant breast myoepithelioma malignant breast myoepithelioma MONDO:0003991 A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of numerous finger-like villi lined by neoplastic columnar cells. villoglandular endometrial endometrioid adenocarcinoma villoglandular endometrial endometrioid adenocarcinoma MONDO:0003992 A morphologic variant of embryonal rhabdomyosarcoma occurring in children. The tumor arises from organs with a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma. botryoid-type embryonal rhabdomyosarcoma botryoid rhabdomyosarcoma of childhood childhood botryoid-type embryonal rhabdomyosarcoma childhood sarcoma Botryoides pediatric botryoid rhabdomyosarcoma childhood botryoid rhabdomyosarcoma MONDO:0003993 A morphologic variant of embryonal rhabdomyosarcoma occurring in female children. The neoplasm arises from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma. botryoid-type embryonal rhabdomyosarcoma of the vagina of childhood childhood botryoid-type embryonal rhabdomyosarcoma of the vagina childhood sarcoma Botryoides of the vagina pediatric botryoid-type embryonal rhabdomyosarcoma of the vagina vaginal childhood botryoid-type embryonal rhabdomyosarcoma vaginal childhood sarcoma Botryoides childhood vagina botryoid rhabdomyosarcoma MONDO:0003994 A morphologic variant of embryonal rhabdomyosarcoma arising from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma. botryoid rhabdomyosarcoma of vagina botryoid-type embryonal rhabdomyosarcoma of the vagina sarcoma Botryoides of the vagina vagina botryoid rhabdomyosarcoma botryoid-type embryonal rhabdomyosarcoma of the vagina MONDO:0003995 A morphologic variant of embryonal rhabdomyosarcoma occurring in female children. The neoplasm arises from the vulva. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma. childhood botryoid rhabdomyosarcoma of mammalian vulva childhood botryoid-type embryonal rhabdomyosarcoma of the vulva childhood sarcoma Botryoides of the vulva mammalian vulva childhood botryoid rhabdomyosarcoma vulvar childhood botryoid-type embryonal rhabdomyosarcoma vulvar childhood botryoid-type embryonal rhabdomyosarcoma MONDO:0003996 A disease involving the basal ganglia. basal ganglia disease collection of basal ganglia disease collection of basal ganglia disease or disorder disease of basal ganglia disease of collection of basal ganglia disease or disorder of collection of basal ganglia disorder of collection of basal ganglia disorder of basal ganglia basal ganglia disorder MONDO:0003997 A Kaposi sarcoma arising from the colon. Kaposi's sarcoma (disease) of colon Kaposi's sarcoma of colon Kaposi's sarcoma of the colon colon Kaposi sarcoma colon Kaposi's sarcoma colon Kaposi's sarcoma (disease) colon Kaposis sarcoma colonic Kaposi sarcoma colonic Kaposi's sarcoma colonic Kaposis sarcoma colon Kaposi sarcoma MONDO:0003999 A pilocytic astrocytoma that occurs during adolescence. juvenile pilocytic astrocytoma juvenile pilocytic astrocytoma MONDO:0004000 A pilocytic astrocytoma that occurs during childhood. pilocytic astrocytoma childhood pilocytic astrocytoma pediatric pilocytic astrocytoma pilocytic astrocytoma of childhood childhood pilocytic astrocytoma MONDO:0004001 Elevated pressure in a confined space enclosed by fascia or eschar, which may lead to vascular compromise and subsequent ischemic injury to the tissue within the space. compartment syndrome compartmental syndrome compartment syndrome https://rarediseases.info.nih.gov/diseases/6141/compartment-syndrome MONDO:0004004 Inflammation of the peripheral motor nerves. motor neuritis motor nerve neuritis MONDO:0004005 An adenoma that arises from the rete ovarii. It is composed of elongated tubules. The clinical course is benign. adenoma, rete ovarii, benign rete ovarii adenoma rete ovarii adenoma MONDO:0004006 An exceptionally rare cystadenofibroma that arises from the rete ovarii. cystadenofibroma of rete ovarii rete ovarii cystadenofibroma rete ovarii cystadenofibroma MONDO:0004007 A group of non-invasive epithelial proliferations that occur in the ductal system of the breast. The vast majority of cases arise in the terminal ductal lobular units. This category includes atypical ductal hyperplasia, usual ductal hyperplasia, flat epithelial atypia, and ductal carcinoma in situ. There is an increased risk for subsequent development of invasive breast carcinoma. DIN ductal intraepithelial neoplasia intraductal proliferative lesion intraductal proliferative lesion of the breast mammary intraepithelial neoplasia, ductal type breast intraductal proliferative lesion MONDO:0004008 A breast lesion characterized by the presence of dilated terminal ductal lobular units in which the epithelial lining has been replaced by a single layer of mildly atypical cells, or there is atypical, monotonous epithelial hyperplasia of three to five layers. This lesion relates to columnar cell change with atypia and columnar cell hyperplasia with atypia. DIN 1A FEA clinging carcinoma ductal intraepithelial neoplasia, grade 1A flat ductal epithelial atypia flat ductal epithelial atypia of the breast flat epithelial atypia flat epithelial atypia of the breast flat ductal epithelial atypia MONDO:0004009 An infiltrating transitional cell carcinoma that arises from the renal pelvis and exhibits sarcomatoid features. infiltrating renal pelvis urothelial carcinoma, sarcomatoid variant kidney pelvis sarcomatoid transitional cell carcinoma renal pelvis sarcomatoid transitional cell carcinoma sarcomatoid transitional cell carcinoma of kidney pelvis sarcomatoid transitional cell carcinoma of renal pelvis sarcomatoid transitional cell carcinoma of the kidney pelvis sarcomatoid transitional cell carcinoma of the renal pelvis kidney pelvis sarcomatoid transitional cell carcinoma MONDO:0004010 infiltrating renal pelvis and ureter transitional cell carcinoma infiltrating renal pelvis and ureter urothelial carcinoma infiltrating ureter transitional cell carcinoma infiltrating renal pelvis/ureter urothelial carcinoma MONDO:0004012 A morphologic variant of embryonal rhabdomyosarcoma occurring in adults. The neoplasm arises from organs containing a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma. adult botryoid sarcoma adult botryoid-type embryonal rhabdomyosarcoma botryoid rhabdomyosarcoma of adults adult botryoid rhabdomyosarcoma MONDO:0004013 A morphologic variant of embryonal rhabdomyosarcoma arising from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma. It occurs in female adults. adult botryoid-type embryonal rhabdomyosarcoma of the vagina adult sarcoma Botryoides of the vagina botryoid-type embryonal rhabdomyosarcoma of the vagina of adults adult vagina botryoid rhabdomyosarcoma Editor note: check embryonal rhabdomyosarcoma vs rhabdomyosarcoma adult vagina botryoid embryonal rhabdomyosarcoma MONDO:0004014 An extremely rare meningioma that arises as a primary ectopic tumor in the ethmoid sinus. ethmoid sinus primary ectopic meningioma ethmoidal sinus primary ectopic meningioma primary ectopic meningioma of ethmoid sinus primary ectopic meningioma of ethmoidal sinus primary ectopic meningioma of the ethmoid sinus primary ectopic meningioma of the ethmoidal sinus ethmoid sinus ectopic meningioma MONDO:0004015 A mature or immature teratoma that arises in the pineal region. pineal area teratoma teratoma of pineal area teratoma of pineal region teratoma of the pineal area teratoma of the pineal region pineal region teratoma MONDO:0004016 mature teratoma of pineal area mature teratoma of pineal region mature teratoma of the pineal area mature teratoma of the pineal region pineal area mature teratoma pineal region mature teratoma MONDO:0004017 atypical pineal teratoma immature teratoma of pineal area immature teratoma of pineal region immature teratoma of the pineal area immature teratoma of the pineal region pineal area immature teratoma pineal region immature teratoma MONDO:0004019 A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of eosinophilic malignant glandular epithelial cells. oxyphilic endometrial endometrioid adenocarcinoma oxyphilic endometrial endometrioid adenocarcinoma MONDO:0004020 A mediastinal lymphoma with molecular, morphologic, immunophenotypic, and clinical features of both mediastinal (thymic) large B-cell lymphoma and classical Hodgkin lymphoma. The identification of this group of lymphomas, along with recent gene expression profiling results (PDL2 gene expression in both mediastinal (thymic) large B-cell lymphoma tissues and Hodgkin lymphoma cell lines), further supports the hypothesis that mediastinal (thymic) large B-cell lymphomas and classical Hodgkin lymphomas are related entities. mediastinal B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and Classic Hodgkin lymphoma mediastinal B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and classical Hodgkin lymphoma mediastinal Gray zone lymphoma mediastinal gray zone lymphoma MONDO:0004021 A lymphoma that arises from the mediastinum. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma. lymphoma of mediastinum lymphoma of the mediastinum mediastinal lymphoma mediastinal malignant lymphoma mediastinum lymphoma primary mediastinal lymphoma mediastinal malignant lymphoma MONDO:0004022 A meningioma that affects the superior sagittal sinus and invades the parasagittal angle. parasagittal meningioma MONDO:0004024 A neuroblastoma that affects the spinal cord. neuroblastoma of spinal cord neuroblastoma of the spinal cord spinal cord neuroblastoma spinal cord neuroblastoma MONDO:0004026 A small, benign growth that arises from the skin. It is characterized by the presence of fibrovascular tissue lined by epidermis. It may be sessile or pendulous and usually occurs in sites where there is friction. acrochordon cutaneous fibroepithelial polyp cutaneous tag fibroepithelial polyp of skin fibroepithelial polyp of the skin fibroma molle soft fibroma fibroepithelial polyp skin tag MONDO:0004028 A usually aggressive malignant neoplasm arising from the small intestine. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. fibrosarcoma of small bowel fibrosarcoma of small intestine fibrosarcoma of the small bowel fibrosarcoma of the small intestine fibrosarcoma, small intestine small bowel fibrosarcoma small intestinal fibrosarcoma small intestine fibrosarcoma small intestine fibrosarcoma (disease) small intestinal fibrosarcoma MONDO:0004030 A carcinoma that arises from the transitional epithelium of the ureter. It is associated with tobacco use and usually presents with gross or microscopic hematuria. transitional cell carcinoma of the ureter transitional cell carcinoma of ureter ureter transitional cell carcinoma ureter urothelial cancer ureter urothelial carcinoma ureteral transitional cell carcinoma ureteral urothelial cell carcinoma urothelial cell carcinoma of the ureter urothelial cell carcinoma of ureter ureter transitional cell carcinoma MONDO:0004031 mixed epithelial carcinoma of ovary mixed ovarian carcinoma ovary mixed epithelial carcinoma MONDO:0004032 A malignant mixed epithelial neoplasm that arises from the ovary and is composed predominantly of serous and endocervical-type mucinous epithelium. malignant ovarian mixed epithelial neoplasm malignant ovarian mixed epithelial tumor mixed epithelial carcinoma of ovary mixed epithelial carcinoma of the ovary ovarian Seromucinous carcinoma ovarian mixed epithelial carcinoma ovarian seromucinous carcinoma MONDO:0004034 A lymphoma that involves the eye. eye lymphoma eyeball of camera-type eye lymphoma lymphoma of eyeball of camera-type eye primary eye lymphoma eye lymphoma MONDO:0004035 A benign multifocal proliferation of glomus cells forming clusters around dilated vascular spaces. glomangiomatosis MONDO:0004037 retinal edema MONDO:0004038 Deficiency in the enamel tissue that results in the formation of grooves, pits, or dents on the surface of the affected teeth. enamel hypoplasia dental enamel hypoplasia MONDO:0004039 papillary extrahepatic bile duct adenocarcinoma MONDO:0004040 A neoplasm of the bladder in which the epithelial cells grow downward into the underlying supportive tissue, which often causes hematuria. bladder inverted papilloma urinary bladder inverted papilloma urinary bladder inverted papilloma MONDO:0004041 A rare benign condition, characterized by a papillary growth in the urinary tract with a central fibrovascular core. The latter is lined by normal urothelium. bladder papilloma transitional cell papilloma of bladder urothelial papilloma bladder transitional cell papilloma uPA urothelial papilloma MONDO:0004042 A neoplasm of the urethra in which the epithelial cells grow downward into the underlying supportive tissue. inverted papilloma of the urethra inverted papilloma of urethra urethra inverted papilloma urethral inverted papilloma urethra inverted papilloma MONDO:0004043 A neoplasm of the ureter in which the epithelial cells grow downward into the underlying supportive tissue, which often causes hematuria. inverted papilloma of the ureter inverted papilloma of ureter ureter inverted papilloma ureteral inverted papilloma ureter inverted papilloma MONDO:0004044 A benign epithelial neoplasm that produces visible warty projections from the epithelial surface of the ureter. ureter urothelial papilloma ureter urothelial papilloma MONDO:0004045 Retinoblastoma during childhood that has not spread beyond the eye. intraocular retinoblastoma childhood intraocular retinoblastoma intraocular retinoblastoma of childhood pediatric intraocular retinoblastoma pediatric intraocular retinoblastoma MONDO:0004046 A brain meningioma that occurs during childhood. Brain meningioma brain pediatric meningioma childhood meningioma of brain childhood meningioma of the brain pediatric brain meningioma pediatric meningioma of brain pediatric meningioma of the brain childhood brain meningioma MONDO:0004047 A benign or malignant neoplasm that affects the sphenoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. neoplasm of sphenoid sinus neoplasm of sphenoidal sinus neoplasm of the sphenoid sinus neoplasm of the sphenoidal sinus sphenoid sinus neoplasm sphenoid sinus tumor sphenoidal sinus neoplasm sphenoidal sinus neoplasm (disease) sphenoidal sinus tumor tumor of sphenoid sinus tumor of sphenoidal sinus tumor of the sphenoid sinus tumor of the sphenoidal sinus sphenoidal sinus neoplasm MONDO:0004048 A malignant teratoma that arises from the stomach. immature gastric teratoma malignant gastric teratoma malignant teratoma of stomach malignant teratoma of the stomach stomach malignant teratoma immature gastric teratoma MONDO:0004049 Neurotic reactions to unusual, severe, or overwhelming military stress. combat disorder combat neurosis Shocks, shell combat neuroses combat stress disorder combat stress disorders disorder, combat disorder, combat stress disorders, combat disorders, combat stress neuroses, combat neuroses, war neurosis, combat neurosis, war shell Shocks shell shock shock, shell stress disorder, combat stress disorders, combat war neuroses war neurosis combat disorder MONDO:0004050 An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of a cystic architecture with blood-filled spaces. The prognosis is similar to that of conventional osteosarcoma. malignant bone aneurysm telangiectatic osteosarcoma telangiectatic osteosarcoma (morphologic abnormality) TEOS telangiectatic osteogenic sarcoma MONDO:0004051 aleukemic monocytic leukemia cutis aleukemic monocytic leukemia cutis MONDO:0004052 A carcinoma that arises from the transitional zone at the junction of the rectum and anus. cloacogenic carcinoma of rectum cloacogenic carcinoma of the rectum rectal cloacogenic carcinoma rectal transition zone carcinoma rectal transitional zone carcinoma transition zone carcinoma of rectum transition zone carcinoma of the rectum transitional zone carcinoma of rectum transitional zone carcinoma of the rectum rectal cloacogenic carcinoma MONDO:0004053 A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant squamous epithelial cells. Bartholin's gland squamous cell carcinoma bartholin gland squamous cell carcinoma major vestibular gland squamous cell carcinoma bartholin gland squamous cell carcinoma MONDO:0004054 acute canaliculitis, lacrimal acute lacrimal canaliculitis acute canaliculitis MONDO:0004055 acute inflammation of lacrimal passage MONDO:0004056 An invasive or non-invasive papillary transitional cell carcinoma of the urinary bladder. It is classified as low - or high-grade. -- 2003 bladder papillary urothelial carcinoma urinary bladder papillary transitional cell carcinoma urothelial papillary carcinoma of the bladder bladder urothelial papillary carcinoma bladder papillary urothelial carcinoma MONDO:0004057 An infiltrating bladder transitional cell carcinoma exhibiting micropapillary growth pattern. -- 2003 infiltrating bladder urothelial carcinoma, micropapillary variant micropapillary variant infiltrating bladder urothelial carcinoma MONDO:0004058 A rare syndrome characterized by severe watery diarrhea, hypokalemia, and achlorhydria. It is caused by the oversecretion of vasoactive intestinal peptide from the pancreatic islet cells. https://github.com/monarch-initiative/mondo/issues/3946 Verner Morrison syndrome WDHA syndrome WDHH excessive vasoactive intestinal peptide secretion islet cell WDHA syndrome pancreatic WDHA syndrome watery diarrhea syndrome watery diarrhea with hypokalemic alkalosis watery diarrhea, hypokalemia, and achlorhydria syndrome pancreatic cholera MONDO:0004059 Pain or discomfort caused by exposure of the dentin layer of tooth to thermal, tactile, or other stimuli. sensitive dentin dentin sensitivity MONDO:0004060 An epithelioid sarcoma involving the extremities. It usually presents as nodular masses in the dermis and subcutaneous tissues or in the tendons and fascia. It frequently recurs and metastasizes to other anatomic sites. The most common sites of metastasis are the lungs, lymph nodes, bones, and brain. conventional epithelioid sarcoma distal-type epithelioid sarcoma peripheral epithelioid sarcoma MONDO:0004062 Uveal melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells. Intermediate cell type intraocular melanoma Intermediate cell type uveal melanoma mixed cell type uveal melanoma intraocular mixed cell type melanoma intermediate cell type uveal melanoma MONDO:0004063 Iris melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells. Intermediate cell type iris melanoma intermediate cell type uveal melanoma of iris iris intermediate cell type uveal melanoma iris mixed cell melanoma intermediate cell type iris melanoma MONDO:0004064 A uveal melanoma that arises from the iris. It is the most common primary malignant neoplasm of the iris. The majority arise in preexisting nevi. iris malignant melanoma iris melanoma iris melanoma (disease) malignant melanoma of iris malignant melanoma of the iris melanoma (disease) of iris melanoma of iris melanoma of the iris malignant iris melanoma iris melanoma MONDO:0004065 Choroid melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells. Intermediate cell type choroid melanoma intermediate cell type uveal melanoma of optic choroid mixed cell melanoma of choroid optic choroid intermediate cell type uveal melanoma intermediate cell type choroid melanoma MONDO:0004066 Ciliary body melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells. Intermediate cell type ciliary body melanoma ciliary body intermediate cell type uveal melanoma intermediate cell type uveal melanoma of ciliary body intermediate cell type ciliary body melanoma MONDO:0004067 An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of extracellular mucin that constitutes more than fifty-percent of the tumor. colloid carcinoma of gallbladder colloid carcinoma of the gallbladder colloidal carcinoma of gallbladder colloidal carcinoma of the gallbladder gall bladder mucinous adenocarcinoma gallbladder colloid carcinoma gallbladder colloidal carcinoma gallbladder mucinous adenocarcinoma mucinous carcinoma of gallbladder mucinous carcinoma of the gallbladder gallbladder mucinous carcinoma gallbladder mucinous adenocarcinoma MONDO:0004069 Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes. mitochondrial disease mitochondrial genetic disorders mitochondrial metabolism disease inborn mitochondrial metabolism disorder https://rarediseases.info.nih.gov/diseases/7048/mitochondrial-genetic-disorders MONDO:0004071 An astrocytoma, without designation of benign or malignant, that is found in the supratentorial region. The infratentorial location is more common in children. cerebral astrocytoma childhood astrocytic tumor of telencephalon childhood astrocytoma of cerebrum childhood astrocytoma of the cerebrum pediatric astrocytoma of cerebrum pediatric astrocytoma of the cerebrum pediatric cerebral astrocytoma telencephalon childhood astrocytic tumor telencephalon juvenile astrocytoma cerebral astrocytoma, childhood childhood cerebral astrocytoma https://rarediseases.info.nih.gov/diseases/9302/cerebral-astrocytoma-childhood MONDO:0004074 A benign neoplasm of the ovary characterized by the presence of cystic structures lined by mucinous columnar epithelial cells in a fibrotic stroma. ovarian mucinous cystadenofibroma ovarian mucinous cystadenofibroma MONDO:0004075 A benign tumor, composed of lobules of mature adipocytes, that penetrates the surrounding tissue from which it arises. There is usually a higher local recurrence rate when compared with non-infiltrating lipomas. intramuscular lipoma intramuscular lipoma (morphologic abnormality) infiltrating lipoma MONDO:0004076 A benign tumor, composed of mature adipocytes, that arises within the tendon sheath. lipoma of tendon sheath lipoma of the tendon sheath tendon sheath lipoma tendon sheath lipoma MONDO:0004077 A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within the lumbosacral tissue of the spine. lipoma of sacral region of vertebral column sacral region of vertebral column lipoma lumbosacral lipoma MONDO:0004078 An intrahepatic cholangiocarcinoma that produces abundant mucin. mucin-producing intrahepatic cholangiocarcinoma mucinous intrahepatic cholangiocarcinoma mucinous intrahepatic cholangiocarcinoma MONDO:0004079 A benign adenomatous neoplasm that arises from the mucous glands in the bronchus. adenoma of bronchial mucous gland adenoma of the bronchial mucous gland adenoma of the bronchial mucus gland bronchial cystadenoma lung mucous gland adenoma lung polyadenoma adenoma of bronchial mucus gland bronchial mucus gland adenoma lung mucous gland adenoma MONDO:0004080 A squamous cell carcinoma of the larynx that arises from the glottic area. It may remain localized for a long period then in late disease stage, it may spread to the opposite true vocal cord, supraglottic and subglottic areas, and the soft tissues of the neck. Hoarseness is the presenting symptom. epidermoid carcinoma of glottis epidermoid carcinoma of the glottis glottic epidermoid carcinoma glottic squamous cell carcinoma glottis epidermoid carcinoma glottis squamous cell carcinoma squamous cell carcinoma of glottis squamous cell carcinoma of the glottis glottis squamous cell carcinoma MONDO:0004081 A morphologic variant of extrahepatic bile duct adenocarcinoma characterized by the presence of malignant glandular epithelium composed of clear cells. bile duct clear cell adenocarcinoma bile duct clear cell carcinoma clear cell adenocarcinoma of bile duct clear cell adenocarcinoma of the bile duct clear cell bile duct adenocarcinoma extrahepatic bile duct clear cell adenocarcinoma extrahepatic bile duct clear cell adenocarcinoma MONDO:0004082 An immature teratoma that arises from the ovary and occurs in children. childhood immature ovarian teratoma childhood immature teratoma of the ovary childhood ovarian immature teratoma immature ovarian teratoma of childhood pediatric immature ovarian teratoma pediatric immature teratoma of ovary pediatric immature teratoma of the ovary pediatric ovarian immature teratoma childhood immature teratoma of ovary MONDO:0004083 A rare cutaneous lesion presenting as a scaly verrucous plaque. Morphologically, the plaque contains nests of basaloid cells. Bowen's disease, clonal intraepidermal epithelioma of Jadassohn Borst-Jadassohn intraepidermal carcinoma MONDO:0004085 A epithelioid cell melanoma that involves the optic choroid. choroid epithelioid cell melanoma choroidal epithelioid cell melanoma epithelioid cell melanoma of choroid epithelioid cell melanoma of optic choroid epithelioid cell melanoma of the choroid optic choroid epithelioid cell melanoma choroid epithelioid cell melanoma MONDO:0004086 A epithelioid cell melanoma that involves the ciliary body. ciliary body epithelioid cell melanoma epithelioid cell melanoma of ciliary body epithelioid cell melanoma of the ciliary body ciliary body epithelioid cell melanoma MONDO:0004087 A morphologic variant of large cell lung carcinoma characterized by the presence of a solid nodular or anastomotic trabecular growth pattern, peripheral palisading, and comedo type necrosis. basaloid large cell lung carcinoma basaloid large cell carcinoma of the lung basaloid lung carcinoma basaloid large cell lung carcinoma MONDO:0004088 An aggressive variant of cervical squamous cell carcinoma characterized by the presence of nests of malignant basaloid squamous cells with scant amount of cytoplasm. cervical basaloid carcinoma cervical basaloid squamous cell carcinoma cervical basaloid carcinoma MONDO:0004089 An aggressive, human papillomavirus-related squamous cell carcinoma that arises from the penis. It is characterized by the presence of nests of small malignant cells. The malignant cells tend to invade deeply into the adjacent tissues. Comedo-type necrosis is often present. basaloid carcinoma of penis basaloid carcinoma of the penis basaloid penile squamous cell carcinoma basaloid squamous cell carcinoma of penis basaloid squamous cell carcinoma of the penis penis basaloid squamous cell carcinoma squamous cell carcinoma of penis, basaloid type squamous cell carcinoma of the penis, basaloid type BPSCC penis basaloid carcinoma basaloid carcinoma of the penis MONDO:0004090 A squamous cell carcinoma that arises from the vulva and is characterized by the presence of nests of malignant basaloid cells with a scant amount of cytoplasm. vulvar basaloid carcinoma vulvar basaloid squamous cell carcinoma vulvar basaloid squamous cell carcinoma MONDO:0004091 A basaloid squamous cell carcinoma that involves the zone of skin. basaloid skin squamous cell carcinoma skin basaloid carcinoma skin basaloid squamous cell carcinoma zone of skin basaloid squamous cell carcinoma basaloid squamous cell skin carcinoma skin basaloid carcinoma MONDO:0004092 A rare primary thymic carcinoma, characterized by the presence of tumor cell lobules with peripheral palisading, and a basophilic staining pattern. More than half of reported cases were associated with the presence of a multilocular thymic cyst. Metastases to lung and liver have been reported in approximately 30% of cases. Thymus basaloid carcinoma basaloid carcinoma of Thymus basaloid carcinoma of the Thymus thymic basaloid carcinoma thymus basaloid squamous cell carcinoma thymic basaloid carcinoma MONDO:0004093 A rare morphologic variant of esophageal squamous cell carcinoma. Histologically, it is composed of closely packed cells with hyperchromatic nuclei and scant basophilic cytoplasm. It has a similar prognosis to the conventional squamous cell carcinoma of the esophagus. (WHO) basaloid squamous carcinoma of esophagus esophageal basaloid cancer esophageal basaloid carcinoma basaloid squamous carcinoma of the esophagus esophageal basaloid squamous cell carcinoma esophageal basaloid carcinoma MONDO:0004094 Multiple meningiomas that affect the skull base. multiple skull base meningiomas multiple skull base meningioma MONDO:0004095 A group of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes. B-cell lymphocytic neoplasm B-cell neoplasm B-cell lymphoma lymphoma, B-cell B-cell neoplasm https://rarediseases.info.nih.gov/diseases/5877/B-cell-lymphoma MONDO:0004096 A dermoid cyst that involves the spinal cord. dermoid cyst of spinal cord dermoid cyst of the spinal cord spinal cord dermoid spinal cord dermoid cyst spinal cord dermoid cyst MONDO:0004098 A rare variant of malignant peripheral nerve sheath tumor that arises from the mediastinum. It is characterized by the presence of malignant cells that contain melanin. malignant mediastinal melanocytic peripheral nerve sheath tumor malignant melanocytic neoplasm of the peripheral nerve sheath of mediastinum malignant melanocytic peripheral nerve sheath tumor of mediastinum malignant melanotic peripheral nerve sheath tumor of the mediastinum mediastinal melanocytic MPNST mediastinum malignant melanocytic neoplasm of the peripheral nerve sheath malignant melanocytic peripheral nerve sheath tumor of mediastinum MONDO:0004099 A cystic teratoma that occurs in an adult. adult cystic teratoma cystic teratoma of adults adult cystic teratoma MONDO:0004100 A lung carcinoma characterized by a combination of small cell carcinoma and squamous cell carcinoma. combined small cell and squamous cell lung carcinoma mixed small cell and squamous cell carcinoma of the lung small cell and squamous cell carcinoma of lung small cell and squamous cell carcinoma of the lung small cell and squamous cell lung carcinoma mixed small cell and squamous cell carcinoma of lung small cell and large cell carcinoma of the lung lung mixed small cell and squamous cell carcinoma MONDO:0004101 A papillary carcinoma arising from the thyroid gland from multiple foci. multicentric papillary thyroid carcinoma multicentric papillary thyroid gland carcinoma multicentric thyroid gland papillary carcinoma multicentric papillary thyroid carcinoma MONDO:0004102 A morphologic variant of papillary carcinoma of the thyroid gland characterized by the presence of pseudostratified malignant follicular cells. columnar cell variant papillary carcinoma columnar cell variant papillary thyroid gland carcinoma columnar cell variant thyroid gland papillary carcinoma columnar cell variant thyroid gland papillary carcinoma MONDO:0004103 A morphologic variant of papillary carcinoma of the thyroid gland characterized by the presence of tall malignant follicular cells, arranged in papillary and trabecular patterns. Necrotic changes and high mitotic activity are present. tall cell variant papillary carcinoma tall cell variant thyroid gland papillary carcinoma tall cell variant thyroid gland papillary carcinoma MONDO:0004104 A hairy cell leukemia that involves the spleen. hairy cell leukemia of spleen spleen hairy cell leukemia splenic manifestation of hairy cell leukemia splenic manifestation of hairy cell leukemia MONDO:0004105 An epithelioid sarcoma occurring in childhood. epithelioid sarcoma childhood epithelioid sarcoma epithelioid sarcoma of childhood pediatric epithelioid sarcoma childhood epithelioid sarcoma MONDO:0004106 A yolk sac tumor that arises from the testis and is characterized by the presence of collections of thin-walled spaces. testicular yolk sac tumor, macrocystic pattern macrocystic pattern testicular yolk sac tumor testicular yolk sac tumor, macrocystic pattern MONDO:0004107 A leukemia (disease) that involves the spleen. leukemia (disease) of spleen spleen leukemia (disease) splenic manifestation of leukemia splenic leukemia splenic manifestation of leukemia MONDO:0004108 A meningioma that affects the diaphragma sellae. diaphragm sellae meningioma diaphragma sellae meningioma (disease) meningioma (disease) of diaphragma sellae meningioma of Diaphragma sellae meningioma of diaphragm sellae meningioma of the Diaphragma sellae meningioma of the diaphragm sellae diaphragma sellae meningioma MONDO:0004109 A benign or malignant neoplasm that affects the epiglottis. Epiglottis tumor epiglottic neoplasm epiglottic tumor epiglottis neoplasm (disease) epiglottis tumor neoplasm of Epiglottis neoplasm of epiglottis neoplasm of the Epiglottis tumor of Epiglottis tumor of epiglottis tumor of the Epiglottis epiglottis neoplasm MONDO:0004110 Hairy cell leukemia that is resistant to treatment. hairy cell leukemia, refractory refractory hairy cell leukemia Editor note: TODO refractory DP refractory hairy cell leukemia MONDO:0004111 A hematologic malignancy that is resistant to treatment. refractory hematologic cancer refractory hematologic malignancy refractory hematologic cancer MONDO:0004112 Inflammation of the bladder due to irradiation. irradiation cystitis radiation cystitis MONDO:0004114 A highly aggressive carcinoma, histologically resembling small cell lung carcinoma. In most cases it is associated with carcinoma in situ. SCCB bladder small cell neuroendocrine cancer bladder small cell neuroendocrine carcinoma poorly differentiated neuroendocrine carcinoma of the bladder small cell bladder cancer small cell bladder carcinoma small cell carcinoma of the urinary bladder small cell carcinoma of urinary bladder small cell neuroendocrine carcinoma of the urinary bladder small cell neuroendocrine carcinoma of urinary bladder small cell/neuroendocrine carcinoma of urinary bladder urinary bladder small cell carcinoma small cell carcinoma of the bladder urinary bladder small cell neuroendocrine carcinoma https://rarediseases.info.nih.gov/diseases/11923/small-cell-carcinoma-of-the-bladder MONDO:0004116 An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the esophagus. It is characterized by the presence of malignant small cells. Oat cell carcinoma of esophagus Oat cell carcinoma of the esophagus esophageal Oat cell carcinoma esophageal small cell NEC esophageal small cell carcinoma esophageal small cell neuroendocrine carcinoma esophagus Oat cell carcinoma esophagus small cell carcinoma small cell carcinoma of esophagus small cell carcinoma of the esophagus small cell carcinoma, esophagus esophageal small cell neuroendocrine carcinoma MONDO:0004117 An aggressive neuroendocrine carcinoma arising from the ampulla of Vater and the periampullary region. Morphologically, it is characterized by the presence of small malignant cells, necrosis, and a high mitotic rate. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss. ampulla of Vater small cell NEC ampulla of Vater small cell carcinoma ampulla of Vater small cell neuroendocrine carcinoma ampullary small cell carcinoma hepatopancreatic ampulla small cell carcinoma small cell neuroendocrine carcinoma of the ampullary region ampulla of vater small cell neuroendocrine carcinoma MONDO:0004118 A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by urothelial cells. cystitis cystica MONDO:0004120 A rare neuroendocrine carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant small cells and high mitotic activity. Bartholin gland small cell carcinoma Bartholin's gland small cell carcinoma major vestibular gland small cell carcinoma small cell carcinoma of major vestibular gland Bartholin gland small cell carcinoma MONDO:0004122 An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies. Thymus small cell carcinoma small cell carcinoma of Thymus small cell carcinoma of the Thymus small cell carcinoma of thymus thymic small cell carcinoma thymic small cell carcinoma neuroendocrine type thymus small cell carcinoma thymus small cell carcinoma MONDO:0004124 A rare malignant neoplasm arising from specialized prostatic stroma. It is characterized by the presence of stromal overgrowth and hypercellularity, increased number of mitotic figures, and pleomorphism. prostate stromal sarcoma stromal sarcoma of prostate stromal sarcoma of the prostate prostate stromal sarcoma MONDO:0004125 A well-circumscribed benign smooth muscle neoplasm arising from the rectum. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. leiomyoma of rectum leiomyoma of the rectum rectal leiomyoma rectum leiomyoma rectum leiomyoma MONDO:0004126 Inflammation of the thyroid gland. This category includes Hashimoto thyroiditis, Riedel thyroiditis, acute thyroiditis, subacute thyroiditis, and radiation-induced thyroiditis. thyroiditis (disease) inflammation of thyroid gland thyroid gland inflammation thyroiditis thyroiditis (disease) thyroiditis MONDO:0004127 A lung adenocarcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed. occult adenocarcinoma of the lung occult adenocarcinoma of lung occult lung adenocarcinoma lung occult adenocarcinoma MONDO:0004128 A large cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed. occult large cell carcinoma of the lung occult large cell carcinoma of lung occult large cell lung carcinoma lung occult large cell carcinoma MONDO:0004129 An anal carcinoma arising from the transitional zone of the anal canal. anal canal cloacogenic cancer anal canal cloacogenic carcinoma anal cloacogenic carcinoma cloacogenic anal carcinoma cloacogenic carcinoma cloacogenic carcinoma (morphologic abnormality) cloacogenic carcinoma of anus cloacogenic carcinoma of the anus cloacogenic carcinoma MONDO:0004130 An anal squamous cell carcinoma characterized by the presence of malignant cells with hyperchromatic nuclei and peripheral nuclear palisading. anal basaloid carcinoma anus basaloid squamous cell carcinoma basaloid carcinoma of anus basaloid carcinoma of the anus anus basaloid carcinoma MONDO:0004131 A large, well differentiated squamous cell carcinoma with a cauliflower-like appearance, characterized by the presence of an exophytic and endophytic growth pattern. Morphologically, there is papillomatosis and acanthosis present, however cytologically the neoplastic squamous cells have a benign appearance. Dysplastic changes are minimal. It does not respond to conservative treatment and it is regarded by many authors as an intermediate lesion between condyloma acuminatum and squamous cell carcinoma. anal Buschke-Lowenstein tumor anal giant (malignant) condyloma anal verrucous carcinoma anal verrucous carcinoma MONDO:0004132 A squamous cell carcinoma arising from the mucosa of the anal canal. anal canal squamous cell carcinoma squamous cell carcinoma of the anal canal anal canal squamous cell carcinoma MONDO:0004133 An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with acidic and basic dyes. mixed acidophil-basophil adenoma mixed acidophil-basophil adenoma (morphologic abnormality) pituitary gland mixed acidophil-basophil adenoma mixed eosinophil-basophil adenoma pituitary gland mixed eosinophil-basophil adenoma MONDO:0004134 benign dermal schwannoma benign neurilemmoma of skin benign neurilemmoma of the skin benign schwannoma of skin benign schwannoma of the skin benign skin neurilemmoma benign skin schwannoma benign dermal neurilemmoma MONDO:0004135 Thyroiditis associated with painless enlargement of the thyroid gland. It occurs more frequently in females and is characterized by alterations between hyperthyroidism and hypothyroidism and the eventual return to normal thyroid gland function. Subacute lymphocytic thyroiditis Subacute painless thyroiditis silent thyroiditis subacute lymphocytic thyroiditis MONDO:0004136 A benign neoplasm of the ovary characterized by the presence of cystic structures lined by endometrial-type well-differentiated cells. ovarian endometrioid cystadenoma ovarian endometrioid cystadenoma MONDO:0004139 Anemia in which the red blood cell volume is normal. anemia normocytic normocytic Anemia normocytic anemia MONDO:0004140 An immature teratoma characterized by the presence of an intermediate amount of undifferentiated tissues. Intermediate immature teratoma malignant teratoma, intermediate malignant teratoma, intermediate (morphologic abnormality) intermediate malignant teratoma MONDO:0004141 melanomatosis melanomatosis MONDO:0004142 A subtype of large cell neuroendocrine lung carcinoma characterized by the presence of large neuroendocrine cells in combination with adenocarcinoma, squamous cell carcinoma, giant cell carcinoma and/ or spindle cell carcinoma. combined large cell lung neuroendocrine carcinoma combined large cell neuroendocrine carcinoma of lung combined large cell neuroendocrine carcinoma of the lung pulmonary combined large cell neuroendocrine carcinoma lung combined large cell neuroendocrine carcinoma MONDO:0004143 A WHO grade I meningioma characterized by the presence of psammoma bodies that predominate over the meningeal cells. psammomatous meningioma (morphologic abnormality) psammomatous meningioma MONDO:0004144 A WHO grade I meningioma characterized by the presence of spindle cells that form bundles in a collagen matrix. fibroblastic meningioma fibrous meningioma (morphologic abnormality) fibrous meningioma MONDO:0004145 A WHO grade I meningioma characterized by the presence of tumor cells that form lobules. The tumor cells are generally uniform. Whorls and psammoma bodies are usually not present. Meningotheliomatous meningioma meningothelial meningioma (morphologic abnormality) meningothelial meningioma MONDO:0004146 A WHO grade I meningioma characterized by the coexistence of meningothelial cells and fibrous architectural patterns. mixed meningioma transitional (mixed) meningioma transitional meningioma (morphologic abnormality) transitional meningioma MONDO:0004147 A morphologically malignant thymoma that is entirely confined within the capsule. malignant thymoma, noninvasive thymoma malignant noninvasive noninvasive malignant thymoma MONDO:0004148 An intraluminal papillary neoplasm, usually with high grade intraepithelial neoplasia, that arises from the gallbladder. It is associated with the presence of an invasive carcinoma. The carcinomatous component is usually an adenocarcinoma. gall bladder papillary carcinoma gallbladder papillary neoplasm with an associated invasive cancer gallbladder papillary neoplasm with an associated invasive carcinoma intracystic papillary neoplasm with an associated invasive carcinoma papillary carcinoma of gallbladder papillary carcinoma of the gallbladder gallbladder papillary carcinoma gallbladder papillary neoplasm with an associated invasive carcinoma MONDO:0004149 pleomorphic giant cell adenocarcinoma of the gallbladder gallbladder pleomorphic giant cell adenocarcinoma MONDO:0004150 A breast fibroadenoma characterized by a very large size. This term has also been used as a synonym for juvenile fibroadenoma by some authors. The latter is characterized by epithelial hyperplasia and an increased stromal cellularity. breast giant fibroadenoma giant breast fibroadenoma giant fibroadenoma giant fibroadenoma of breast giant fibroadenoma of the breast breast giant fibroadenoma MONDO:0004151 A malignant neoplasm involving the meninx of spinal cord. cancer of meninx of spinal cord malignant meninx of spinal cord neoplasm malignant neoplasm of meninx of spinal cord malignant neoplasm of spinal meninges meninx of spinal cord cancer spinal meninges cancer MONDO:0004152 A recently recognized variant of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) expressing somatic hypermutations of the Immunoglobulin heavy chain (IGH) genes. The recognition of this variant alters the belief that CLL/SLL is always derived from a naive, pregerminal center B-cell. The presence of somatic hypermutations of IGH genes occurs in approximately 50% of CLL/SLL cases and implies a postgerminal center, memory origin. Patients with this variant of CLL/SLL have a favorable prognosis, with a reported median survival of more than 24 years. CLL/SLL with IGVH SHM chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation MONDO:0004153 An embryonal carcinoma that arises from the central nervous system and occurs during childhood. childhood CNS embryonal cell carcinoma childhood central nervous system embryonal carcinoma childhood embryonal carcinoma of the central nervous system embryonal carcinoma of childhood CNS embryonal carcinoma of childhood central nervous system embryonal carcinoma of pediatric CNS embryonal carcinoma of pediatric central nervous system embryonal carcinoma of the central nervous system of childhood embryonal carcinoma of the childhood CNS embryonal carcinoma of the childhood central nervous system embryonal carcinoma of the pediatric CNS embryonal carcinoma of the pediatric central nervous system pediatric central nervous system embryonal carcinoma pediatric embryonal carcinoma of the central nervous system pediatric CNS embryonal cell carcinoma childhood central nervous system embryonal carcinoma MONDO:0004155 A embryonal carcinoma of the central nervous system that occurs in an adult. Central nervous system embryonal carcinoma adult CNS embryonal carcinoma adult central nervous system embryonal carcinoma adult embryonal carcinoma of the central nervous system embryonal carcinoma of adult CNS embryonal carcinoma of adult central nervous system embryonal carcinoma of the adult CNS embryonal carcinoma of the adult central nervous system embryonal carcinoma of the central nervous system of adults adult central nervous system embryonal carcinoma MONDO:0004156 A mucinous cystadenocarcinoma that involves the pancreas. colloid Cystadencarcinoma of pancreas colloid Cystadencarcinoma of the pancreas colloidal Cystadencarcinoma of pancreas colloidal Cystadencarcinoma of the pancreas mucinous Cystadencarcinoma of pancreas mucinous Cystadencarcinoma of the pancreas pancreatic colloid Cystadencarcinoma pancreatic colloidal Cystadencarcinoma pancreatic mucinous cystadenocarcinoma pancreatic colloid cystadenocarcinoma pancreatic mucinous cystadenocarcinoma MONDO:0004158 A cystic epithelial neoplasm characterized by the presence of columnar mucin-producing epithelial cells, ovarian-type stroma formation, and a focal or extensive invasive carcinomatous component. pancreatic invasive mucinous cystadenocarcinoma pancreatic mucinous cystic neoplasm with an associated invasive carcinoma pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma MONDO:0004159 A non-invasive malignant cystic epithelial neoplasm arising from the exocrine pancreas. It occurs almost exclusively in women. Small tumors are usually found incidentally. Larger tumors usually produce symptoms related to compression of the adjacent structures. It is characterized by the presence of columnar, mucin-producing epithelial cells which often form papillary projections with irregular branching and budding. There is cellular stratification, severe dysplasia, and high mitotic activity present. Complete surgical removal is usually associated with an excellent prognosis. pancreatic non-invasive mucinous cystadenocarcinoma MONDO:0004160 The involuntary loss of urine in females secondary to insufficient strength of the pelvic floor muscles; this can result from physical changes following pregnancy and childbirth, or as a response to a decrease in estrogen during menopause. female urinary stress incontinence stress incontinence - female female stress incontinence MONDO:0004161 A morphologic variant of uterine corpus leiomyoma characterized by zones of hemorrhagic infarction surrounded by hypercellular areas. It usually develops in women of childbearing years, particularly those that are pregnant, post-partum, or taking oral contraceptives. uterine corpus hemorrhagic cellular leiomyoma uterine corpus leiomyoma with apoplectic change uterine corpus apoplectic leiomyoma MONDO:0004162 A morphologic variant of leiomyoma arising from the uterine corpus. It is characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern. body of uterus cellular leiomyoma cellular leiomyoma of body of uterus uterine corpus cellular leiomyoma uterine corpus cellular leiomyoma MONDO:0004163 A transitional cell carcinoma of the urinary bladder that arises from the urachal epithelium. bladder urachal urothelial carcinoma bladder urachal urothelial carcinoma MONDO:0004164 A variant of prostate carcinoma characterized by the presence of malignant cells forming syncytial patterns and dense lymphocytic infiltrates. acinar prostate adenocarcinoma, lymphoepithelioma-like variant lymphoepithelioma-like variant acinar prostate adenocarcinoma lymphoepithelioma-like acinar prostate adenocarcinoma MONDO:0004165 A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class D (IgD). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient production of IgD from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons are asymptomatic and do not appear to be at increased risk for infection. selective IgD immunodeficiency selective immunoglobulin D deficiency selective IgD deficiency disease MONDO:0004166 Fallopian tube carcinoma that has developed in relatives of patients that have a history of fallopian tube carcinoma. familial fallopian tube carcinoma hereditary fallopian tube cancer hereditary fallopian tube carcinoma familiar fallopian tube carcinoma hereditary fallopian tube carcinoma MONDO:0004168 A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in cribriform patterns and few lymphocytes. testicular seminoma, cribriform variant cribriform variant testicular seminoma MONDO:0004169 A combination of distressing physical, psychologic, or behavioral changes that occur during the luteal phase of the menstrual cycle. Symptoms of pms are diverse (such as pain, water-retention, anxiety, cravings, and depression) and they diminish markedly 2 or 3 days after the initiation of menses. premenstrual tension MONDO:0004170 nodular episcleritis MONDO:0004172 A adenocarcinofibroma that involves the body of uterus. adenocarcinofibroma of body of uterus body of uterus adenocarcinofibroma uterine corpus adenocarcinofibroma MONDO:0004173 A rare adenocarcinoma arising from Skene gland. It presents as a periurethral or anterior vaginal submucosal mass. It is characterized by morphological features similar to prostate adenocarcinoma. adenocarcinoma of Skene gland adenocarcinoma of Skene gland origin carcinoma of Skene gland carcinoma of Skene's gland carcinoma of paraurethral gland carcinoma of the paraurethral gland paraurethral gland adenocarcinoma paraurethral gland carcinoma Skene gland carcinoma adenocarcinoma of skene gland origin MONDO:0004174 An endometrioid adenocarcinoma arising from the endometrium. Morphologically it is characterized by the presence of malignant glandular cells containing glycogen vacuoles which are usually subnuclear and reminiscent of early secretory endometrium. endometrial endometrioid adenocarcinoma, secretory variant secretory uterine corpus endometrioid adenocarcinoma secretory uterine corpus endometrioid adenocarcinoma MONDO:0004175 mucin-rich endometrial endometrioid adenocarcinoma MONDO:0004176 An osteosarcoma arising from the soft tissue, and occurring during childhood. childhood extraosseous osteosarcoma childhood extraskeletal osteosarcoma extraosseous osteosarcoma of childhood pediatric extraosseous osteosarcoma pediatric extraskeletal osteosarcoma childhood extraosseous osteosarcoma MONDO:0004177 Abnormal growth of the cells of the urethra (lower urinary tract) without malignant characteristics. benign neoplasm of the urethra benign neoplasm of urethra benign tumor of the urethra benign tumor of urethra benign urethra neoplasm benign urethra tumor benign urethral neoplasm benign urethral tumor neoplasm. urethra urethra benign neoplasm urethral benign neoplasm benign urethral neoplasm MONDO:0004178 A yolk sac tumor that arises from the testis and is characterized by the presence of connective tissue stalks that contain a blood vessel and are lined by cells with clear cytoplasm and prominent nucleoli. testicular yolk sac tumor, endodermal sinus pattern endodermal sinus pattern testicular yolk sac tumor testicular yolk sac tumor, endodermal sinus pattern MONDO:0004180 A non-metastasizing neoplasm that arises from the organs that comprise the urinary system. Representative examples include renal oncocytoma, bladder inverted papilloma, and urothelial papilloma. neoplasm of urinary system tumor of the urinary system tumor of urinary tract urinary tract neoplasm benign neoplasm of the urinary tract benign neoplasm of urinary tract benign tumor of the urinary tract benign tumor of urinary tract benign urinary system neoplasm benign urinary tract neoplasm benign urinary tract tumor renal system benign neoplasm urinary system benign neoplasm benign urinary system neoplasm MONDO:0004181 An uncommon variant of breast adenosis characterized by the presence of irregularly shaped glands, epithelial cells with eosinophilic cytoplasm, and prominent myopepithelial cells. Mild atypia may be present. breast adenomyoepithelial adenosis MONDO:0004182 Stage IV includes T4b, NO,MO/any T NI, MO/ any T N2 MO,/ any T N3 MO/ any T any N M1 : T4b: Tumor invades the pelvic wall, abdominal wall. N1: Metastasis in a single lymph node, 2 cm or less in greatest dimension. N2: Metastasis in a single lymph node, more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, none more than 5 cm in greatest dimension. N3: Metastasis in a lymph node more than 5 cm in greatest dimension. M1: Distant metastasis. Jewett-Marshall stage D2 bladder cancer Jewett-Marshall stage D2 urinary bladder cancer Jewett-Marshall stage D2 urinary bladder carcinoma stage IVB bladder cancer stage IVB urinary bladder cancer stage IVB urinary bladder carcinoma Jewett-Marshall bladder cancer Jewett-Marshall stage D1 bladder cancer Editor note: consider obsoleting or moving to stage stage IVb bladder cancer MONDO:0004183 Any nerve disorder affecting the axon of a nerve. axon peripheral neuropathy axonal neuropathy peripheral neuropathy of axon axonal neuropathy MONDO:0004184 A disease involving the urethra. disease of urethra disease or disorder of urethra disorder of urethra urethra disease urethra disease or disorder urethra disorder urethral disorder MONDO:0004185 A benign neoplasm of the ovary characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma. ovarian serous cystadenofibroma ovary serous cystadenofibroma ovarian serous cystadenofibroma MONDO:0004186 A rare self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the cranium. This is an osteolytic lesion. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity. cranial nodular fasciitis cranial pseudosarcomatous fasciitis cranial nodular fasciitis MONDO:0004187 A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the soft tissues. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity. fasciitis - nodular nodular fasciitis pseudosarcomatous fasciitis pseudosarcomatous fibromatosis nodular fasciitis MONDO:0004188 A spindle cell melanoma that involves the iris. iris spindle cell melanoma spindle cell melanoma of iris spindle cell melanoma of the iris iris spindle cell melanoma MONDO:0004189 A tuberculosis that involves the esophagus. esophagus tuberculosis tuberculosis of esophagus esophageal tuberculosis MONDO:0004190 A metaplastic lesion of the urothelium found in the urinary bladder. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi. nephrogenic adenoma of the urinary bladder urinary bladder nephrogenic adenoma nephrogenic adenoma of urinary bladder MONDO:0004191 So-called nephrogenic adenoma is a distinct metaplastic lesion of the urothelium characterized by aggregates of cuboidal or hobnail cells. These cells line thin papillary fronds on the surface or form tubular structures within the lamina propria. nephrogenic adenoma nephrogenic adenoma MONDO:0004192 A malignant neoplasm involving the urethra cancer of urethra malignant neoplasm of the urethra malignant neoplasm of urethra malignant tumor of the urethra malignant tumor of urethra malignant tumour of urethra malignant urethra neoplasm malignant urethra tumor malignant urethral neoplasm malignant urethral tumor urethra cancer urethral Ca urethral cancer urethra cancer MONDO:0004193 A dysgerminoma that arises from the ovary and occurs in children. childhood dysgerminoma childhood dysgerminoma of ovary childhood ovarian dysgerminoma childhood ovarian germinomatous germ cell tumor dysgerminoma of ovary of childhood pediatric dysgerminoma of ovary pediatric ovarian dysgerminoma MONDO:0004194 A non-neoplastic disorder that usually affects postmenopausal women. It is characterized by the leuteinization of ovarian stromal cells. The ovaries are bilaterally involved and enlarged. When it affects women in reproductive age, it causes virilization, high blood pressure, and increased insulin levels. ovarian stromal hyperthecosis MONDO:0004195 The developmental arrest and architectural distortion of the thymus that results in immunodeficiency. thymic dysplasia MONDO:0004196 A biphasic rectal carcinoma with a spindle cell, sarcomatoid component. rectal sarcomatoid cancer rectal sarcomatoid carcinoma rectal spindle cell carcinoma rectum sarcomatoid carcinoma sarcomatoid carcinoma of rectum sarcomatoid carcinoma of the rectum rectal sarcomatoid carcinoma MONDO:0004197 A cancer involving a male urethra. Male urethral malignant neoplasm cancer of male urethra male urethra cancer malignant male urethra neoplasm malignant neoplasm of male urethra male urethral cancer MONDO:0004198 A yolk sac tumor that arises from the testis and is characterized by the presence of aggregates of polygonal malignant cells with clear cytoplasm and prominent nucleoli. testicular yolk sac tumor, solid pattern solid pattern testicular yolk sac tumor testicular yolk sac tumor, solid pattern MONDO:0004199 A squamous cell carcinoma that arises from the vulva and is characterized by the presence of keratin pearls. vulvar keratinizing squamous cell carcinoma vulvar keratinizing squamous cell carcinoma MONDO:0004200 A term used by urologists to describe an infiltrating carcinoma of the bladder that has not invaded into the muscularis propria of the bladder wall regardless of histologic type or grade. superficial bladder cancer superficial bladder carcinoma superficial urinary bladder cancer superficial urinary bladder carcinoma superficial urinary bladder carcinoma MONDO:0004201 Incomplete development of the pituitary gland. pituitary hypoplasia pituitary gland hypoplasia pituitary hypoplasia MONDO:0004202 A carcinoma that arises from epithelial cells of the adrenal medulla adrenal medulla carcinoma carcinoma of adrenal medulla adrenal medulla carcinoma MONDO:0004203 A cancer that involves the female urethra. cancer of female urethra female urethra cancer female urethral malignant neoplasm malignant female urethra neoplasm malignant neoplasm of female urethra female urethral cancer MONDO:0004204 A squamous papilloma that involves the zone of skin. Dyskeratotic papilloma of skin Dyskeratotic papilloma of the skin Dyskeratotic skin papilloma hyperkeratotic papilloma of skin hyperkeratotic papilloma of the skin hyperkeratotic skin papilloma parakeratotic papilloma of skin parakeratotic papilloma of the skin parakeratotic skin papilloma squamous cell papilloma of skin squamous cell papilloma of the skin squamous cell skin papilloma zone of skin squamous papilloma squamous cell skin papilloma MONDO:0004205 lymphohistiocytoid mesothelioma MONDO:0004206 An aggressive malignant smooth muscle neoplasm, arising from the pulmonary vein. It is characterized by a proliferation of neoplastic spindle cells. leiomyosarcoma of pulmonary vein leiomyosarcoma of the pulmonary vein pulmonary vein leiomyosarcoma pulmonary vein leiomyosarcoma MONDO:0004207 An aggressive malignant smooth muscle neoplasm, arising from the pulmonary artery It is characterized by a proliferation of neoplastic spindle cells. leiomyosarcoma of pulmonary artery leiomyosarcoma of the pulmonary artery pulmonary artery leiomyosarcoma pulmonary artery leiomyosarcoma MONDO:0004208 An aggressive malignant smooth muscle neoplasm, arising from the superior vena cava. It is characterized by a proliferation of neoplastic spindle cells. anterior vena cava leiomyosarcoma leiomyosarcoma of Superior vena cava leiomyosarcoma of anterior vena cava leiomyosarcoma of the Superior vena cava superior vena cava leiomyosarcoma MONDO:0004209 A central nervous system embryonal tumor, not otherwise specified arising from the cerebral hemispheres. PNET of cerebral hemispheres PNET of cerebrum PNET of the cerebral hemispheres PNET of the cerebrum cerebral PNET cerebral hemisphere PNET cerebral hemisphere primitive neuroectodermal neoplasm cerebral hemisphere primitive neuroectodermal tumor cerebral primitive neuroectodermal neoplasm cerebral primitive neuroectodermal tumor primitive neuroectodermal neoplasm of cerebral hemispheres primitive neuroectodermal neoplasm of cerebrum primitive neuroectodermal neoplasm of the cerebral hemispheres primitive neuroectodermal neoplasm of the cerebrum primitive neuroectodermal tumor of cerebral hemispheres primitive neuroectodermal tumor of cerebrum primitive neuroectodermal tumor of the cerebral hemispheres primitive neuroectodermal tumor of the cerebrum cerebral primitive neuroectodermal tumor MONDO:0004210 A neuroendocrine tumor that arises from the colon and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns. L-cell glucagon-like peptide-producing neuroendocrine tumor of colon colon L-cell glucagon-like peptide-producing NET colon L-cell glucagon-like peptide-producing neuroendocrine tumor colonic L-cell glucagon-like peptide-producing neuroendocrine tumor colonic L-cell glucagon-like peptide producing tumor MONDO:0004211 A neuroendocrine tumor that arises from the gastrointestinal tract and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns. L-cell glucagon-like peptide-producing NET L-cell glucagon-like peptide-producing neuroendocrine tumor L-cell glucagon-like peptide producing tumor L-cell glucagon-like peptide-producing neuroendocrine tumor MONDO:0004212 A rapidly growing squamous cell carcinoma that arises from the vulva. It is self-limited and is characterized by the presence of a central crater that contains squamous cells. The proliferating squamous cells infiltrate the dermis below and produce keratin masses that are pushed towards the surface of the tumor. vulvar squamous cell carcinoma, keratoacanthoma type vulvar keratoacanthoma-like carcinoma MONDO:0004213 A squamous cell carcinoma that arises from the vulva and is characterized by the absence of keratin pearls. vulvar non-keratinizing squamous cell carcinoma MONDO:0004214 A benign neoplasm of the ovary characterized by the presence of cystic structures lined by endometrial-type well-differentiated cells in a fibrotic stroma. ovarian endometrioid cystadenofibroma ovarian endometrioid cystadenofibroma MONDO:0004215 An anthrax disease that results in infection located in skin, has material basis in Bacillus anthracis, which is transmitted by contact with infected animals or animal products. The infection has symptom skin lesion that eventually forms an ulcer with a black center. anthrax, skin type skin anthrax cutaneous anthrax https://rarediseases.info.nih.gov/diseases/8158/cutaneous-anthrax MONDO:0004216 A germinoma that arises from the pineal gland. germinoma pineal germinoma Editor note: we place the Orphanet class here rather than under CNS germinoma due to its relationship to pituitary hormone deficiency pineal region germinoma MONDO:0004217 A germinoma arising from the brain during childhood. brain germinoma of childhood germinoma of childhood brain germinoma of pediatric brain germinoma of the childhood brain germinoma of the pediatric brain pediatric brain germ cell cancer pediatric brain germinoma childhood brain germinoma MONDO:0004218 A germ cell tumor arising from brain during childhood. Brain germ cell tumor childhood brain germ cell neoplasm childhood brain germ cell tumor childhood germ cell brain neoplasm germ cell neoplasm of childhood brain germ cell neoplasm of pediatric brain germ cell neoplasm of the childhood brain germ cell neoplasm of the pediatric brain germ cell tumor of childhood brain germ cell tumor of pediatric brain germ cell tumor of the childhood brain germ cell tumor of the pediatric brain pediatric brain germ cell neoplasm pediatric brain germ cell tumor childhood germ cell brain tumor MONDO:0004219 A yolk sac tumor that arises from the testis and is characterized by the presence of collections of vesicles that are surrounded by connective tissue. testicular yolk Sac tumor, polyvesicular vitelline pattern polyvesicular vitelline pattern testicular yolk sac tumor MONDO:0004220 A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of spindled malignant epithelial cells. endometrial endometrioid adenocarcinoma with spindled epithelial cells sarcomatoid uterine corpus endometrioid adenocarcinoma endometrial endometrioid adenocarcinoma with spindled epithelial cells MONDO:0004221 A neoplasm with perivascular epithelioid cell differentiation arising from the uterine corpus wall. body of uterus neoplasm with perivascular epithelioid cell differentiation uterine corpus PEComa uterine corpus perivascular epithelioid cell tumor uterine perivascular epithelioid cell tumor uterus perivascular epithelioid cell tumor uterine corpus perivascular epithelioid cell tumor MONDO:0004222 A malignant glandular epithelial neoplasm arising from the ovary. It is characterized by the presence of clear and hobnail cells and cystic structures. ovarian clear cell cystadenocarcinoma ovarian clear cell cystadenocarcinoma MONDO:0004223 A benign polypoid growth in the middle ear. middle Ear polyp middle ear polyp polyp - middle ear polyp of the middle ear polyp of middle ear MONDO:0004224 chronic metabolic polyneuropathy chronic metabolic polyneuropathy MONDO:0004225 A condition characterized by the presence of a monoclonal gammopathy (MG) in which the clonal mass has not reached a predefined state in which the condition is considered malignant. Up to 25% of cases of monoclonal gammopathy of undetermined significance (MGUS) progress to a B-cell malignancy or myeloma. MGUS may occur in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases. MGUS benign monoclonal gammopathy monoclonal gammopathy Of undetermined significance (MGUS) monoclonal gammopathy of undetermined significance monoclonal gammopathy of undetermined significance (MGUS) monoclonal gammopathy of undetermined significance (morphologic abnormality) monoclonal gammopathy of unknown significance monoclonal gammopathy, benign monoclonal gammopathy of uncertain significance MONDO:0004226 diffuse intraductal papillomatosis diffuse intraductal papillomatosis MONDO:0004227 A benign, usually asymptomatic small mesothelial tumor that arises from the epididymis. adenomatoid neoplasm of epididymis adenomatoid neoplasm of the epididymis adenomatoid tumor of epididymis adenomatoid tumor of the epididymis benign epididymal epithelial mesothelioma epididymal adenomatoid tumor epididymis adenomatoid tumor epididymal adenomatoid tumor MONDO:0004229 A squamous cell carcinoma that arises from the breast parenchyma and is characterized by cellular discohesion resulting in a pseudoangiosarcomatous pattern. squamous cell breast carcinoma, acantholytic variant acantholytic variant squamous cell breast carcinoma MONDO:0004230 A benign neoplasm arising from mesothelial cells. It is characterized by the formation of glandular and tubular patterns. It can occur in several anatomic sites including the pleura, peritoneum, and epididymis. adenomatoid tumor adenomatoid tumor (morphologic abnormality) adenomatoid tumor NOS (morphologic abnormality) adenomatoid tumor, benign benign localized epithelial mesothelioma benign mesothelial neoplasm benign mesothelial tumor benign mesothelioma benign neoplasm of mesothelium benign neoplasm of the mesothelium benign tumor of mesothelium benign tumor of the mesothelium mesothelioma, benign adenomatoid tumor MONDO:0004231 A squamous cell carcinoma that arises from the breast parenchyma and is characterized by the presence of spindle-shaped malignant cells. squamous cell breast carcinoma, spindle cell variant metaplastic adenocarcinoma with spindle cell differentiation spindle cell variant squamous cell breast carcinoma MONDO:0004232 A squamous cell carcinoma that arises from the breast parenchyma and is characterized by the presence of large malignant cells that exhibit keratinization. squamous cell breast carcinoma, large cell keratinizing variant large cell keratinizing variant squamous cell breast carcinoma MONDO:0004233 A rare aggressive rhabdomyosarcoma occurring in children. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells. Pleomorphic rhabdomyosarcoma childhood anaplastic rhabdomyosarcoma pediatric pleomorphic rhabdomyosarcoma pleomorphic childhood rhabdomyosarcoma pleomorphic rhabdomyosarcoma of childhood childhood pleomorphic rhabdomyosarcoma MONDO:0004234 An Epstein-Barr virus negative disorder with a chronic clinical course affecting predominantly adults and characterized by the proliferation of large granular lymphocytes with natural killer cell immunophenotype. The T-cell receptor genes are not rearranged. CLPD-NK CNKL NK-LGL leukemia NK-LGLL NK-cell large granular lymphocyte lymphocytosis NK-cell lineage granular lymphocyte proliferative disorder NK-type lymphoproliferative disorder of granular lymphocytes chronic NK lymphocytosis chronic NK-LGL lymphoproliferative disorder chronic NK-cell lymphocytosis chronic NK-large granular lymphocyte lymphoproliferative disorder chronic lymphoproliferative disorder of NK-cells indolent NK-cell lymphoproliferative disorder indolent large granular NK-cell lymphoproliferative disorder natural killer-cell large granular lymphocyte leukemia chronic lymphoproliferative disorder of natural killer cells chronic lymphoproliferative disorder of NK-cells MONDO:0004235 An infection that develops in the diverticula of the intestinal tract. Signs and symptoms include abdominal pain, fever, and leukocytosis. digestive tract diverticulum inflammation inflammation of digestive tract diverticulum diverticulitis MONDO:0004236 A somatostatin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of tubulo-glandular structures. duodenal delta cell somatostatin producing tumor duodenal somatostatin producing tumor duodenal somatostatin-producing NET duodenal somatostatin-producing neuroendocrine tumor duodenal somatostatinoma duodenal somatostatinoma MONDO:0004237 A rare poorly differentiated morphologic variant of large cell lung carcinoma characterized by the presence of rhabdoid cells. large cell carcinoma with rhabdoid phenotype (morphologic abnormality) large cell lung carcinoma with rhabdoid phenotype RLCLC large cell carcinoma with rhabdoid phenotype MONDO:0004238 A meningioma that affects the petrous apex. meningioma of petrous apex meningioma of petrous ridge meningioma of the petrous apex meningioma of the petrous ridge petrous ridge meningioma petrous apex meningioma MONDO:0004239 A variant of cervical squamous cell carcinoma characterized by the presence of keratin pearls. Intercellular bridges and cytoplasmic keratinization are usually present. cervical keratinizing squamous cell carcinoma cervical keratinizing squamous cell carcinoma MONDO:0004240 A malignant neoplasm that affects the portion of the urethra that is close to the bladder. malignant neoplasm of posterior urethra malignant neoplasm of the posterior urethra malignant tumor of posterior urethra malignant tumor of the posterior urethra posterior urethra malignant neoplasm posterior urethra malignant tumor posterior urethral cancer posterior urethral malignant neoplasm posterior urethral malignant tumor posterior urethra cancer MONDO:0004241 Osteochondrosis of the growth plate near the tibial tuberosity. Osgood-Schlatter disease Osgood-Schlatter's disease Osteochondrosis of proximal tibia Osteochondrosis of the tibial tubercle aseptic necrosis of the tibial tubercle juvenile osteochondrosis of tibial tubercle osteochondritis of the tibial tubercle osteochondritis of tibial tubercle Osgood-Schlatter disease MONDO:0004242 GI bleeding active peptic ulcer disease MONDO:0004243 An epithelioid sarcoma of the proximal type involving the vulva. vulvar proximal-type epithelioid sarcoma MONDO:0004244 An epithelioid sarcoma predominantly involving the pelvis, perineum, and genital organs. It tends to have a more aggressive clinical course as compared to the more frequently seen distal-type epithelioid sarcoma. central epithelioid sarcoma proximal-type epithelioid sarcoma PTES proximal-type epithelioid sarcoma MONDO:0004245 A tumor arising from the ependymal lining of the ventricles. brain ependymal tumor ependymal tumor of brain ependymoma of brain brain ependymoma ependymal tumor of brain MONDO:0004247 A mucosal erosion that occurs in the esophagus, stomach or duodenum. Symptoms can include abdominal pain, nausea and vomiting, and bleeding. acute peptic ulcer with hemorrhage acute peptic ulcer with hemorrhage and perforation acute peptic ulcer without hemorrhage and without perforation peptic ulcer peptic ulcer disease MONDO:0004248 An ependymoma that arises from the infratentorial region of the brain and occurs during childhood. childhood infratentorial ependymoma infratentorial ependymoma pediatric infratentorial ependymoma pediatric infratentorial ependymoma MONDO:0004249 An ependymoma that arises from the supratentorial region of the brain and occurs during childhood. supratentorial ependymoma childhood supratentorial ependymoma pediatric cerebral ependymoma pediatric supratentorial ependymoblastoma pediatric supratentorial ependymoma MONDO:0004250 An adenoma that arises from the extrahepatic bile ducts. It is characterized by the presence of a papillary growth pattern. extrahepatic bile duct papillary adenoma papillary adenoma of extrahepatic bile duct papillary adenoma of the extrahepatic bile duct extrahepatic bile duct papillary adenoma MONDO:0004251 A benign or malignant neoplasm that affects the small intestine. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. neoplasm of small bowel neoplasm of small intestine neoplasm of the small bowel neoplasm of the small intestine small bowel neoplasm small bowel tumor small intestinal neoplasm small intestine neoplasm small intestine neoplasm (disease) small intestine tumor tumor of small bowel tumor of small intestine tumor of the small bowel tumor of the small intestine small intestine neoplasm MONDO:0004252 A neuroendocrine tumor that arises from the small intestine and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns. L-cell glucagon-like peptide-producing neuroendocrine tumor of small intestine small intestinal L-cell glucagon-like peptide-producing NET small intestinal L-cell glucagon-like peptide-producing neuroendocrine tumor small intestinal L-cell, glucagon-like peptide-producing neuroendocrine tumor small intestine L-cell glucagon-like peptide-producing neuroendocrine tumor small intestinal L-cell glucagon-like peptide producing tumor MONDO:0004253 A benign breast neoplasm characterized by the proliferation of multiple papillomas within the lumen of the ducts. intraductal breast papillomatosis intraductal papillomatosis of breast intraductal papillomatosis of the breast breast intraductal papillomatosis intraductal breast papillomatosis MONDO:0004254 focal intraductal papillomatosis localized intraductal papillomatosis focal intraductal papillomatosis MONDO:0004255 A benign or malignant epithelial neoplasm of probable Wolffian origin. It predominantly arises from the broad ligament and presents as a unilateral adnexal mass. Wolffian adnexal neoplasm Wolffian adnexal tumor FATWO WAT Wolffian adenoma Wolffian tumor female adnexal tumor of probable Wolffian origin Wolffian adnexal tumor MONDO:0004256 A meningioma that arises from the meninges of the lumbar region of the spinal cord. lumbar intraspinal meningioma meningioma of lumbar spinal canal and spinal cord meningioma of the lumbar spinal canal and spinal cord lumbar spinal canal and spinal cord meningioma MONDO:0004257 A mixed germ cell tumor that arises from the central nervous system and occurs during childhood. Central nervous system Mixed germ cell tumor childhood mixed germ cell tumor of central nervous system mixed germ cell tumor of central nervous system of childhood pediatric mixed germ cell tumor of central nervous system childhood central nervous system mixed germ cell tumor MONDO:0004258 A sexual disorder in which a woman fails to achieve orgasm during sexual intercourse. female orgasmic disorder inhibited female orgasm female orgasmic disorder MONDO:0004259 A carcinoma that arises from epithelial cells of the endocervix. carcinoma of endocervix carcinoma of the endocervix endocervical cancer endocervical carcinoma endocervix carcinoma endocervical adenocarcinoma endocervical carcinoma MONDO:0004260 Penetration of a peptic ulcer through the wall of duodenum or stomach allowing the leakage of luminal contents into the peritoneal cavity. acute peptic ulcer with perforation peptic ulcer with perforation perforated peptic ulcer peptic ulcer perforation MONDO:0004261 A neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells around small breast ducts. periductal breast myoepitheliosis periductal breast myoepitheliosis MONDO:0004262 A multifocal neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells within and/or around small breast ducts. breast myoepitheliosis breast myoepitheliosis MONDO:0004263 An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the infratentorial region and occurs in children. childhood infratentorial embryonal tumor with Multilayered Rosettes, C19MC-altered childhood infratentorial ependymoblastoma pediatric infratentorial ependymoblastoma pediatric infratentorial ependymoblastoma MONDO:0004264 acute gonorrhea of uterus gonococcal endometritis gonococcal endometritis (acute) uterus - acute gonorrhoea acute gonococcal endometritis MONDO:0004265 An acute, usually bacterial infection affecting the endometrium. It is characterized by the presence of neutrophils or microabscesses in the endometrial glands. Symptoms include fever, lower abdominal pain, and vaginal discharge. endometritis, acute acute endometritis MONDO:0004266 An anal adenocarcinoma arising from the epithelium of the anal glands. The overlying anal mucosa does not show evidence of neoplastic changes. adenocarcinoma of anal ducts adenocarcinoma of the anal gland anal glands adenocarcinoma adenocarcinoma of anal gland anal gland adenocarcinoma MONDO:0004267 A benign squamous neoplasm characterized by a papillary growth pattern, diffusely involving a specific anatomic site. squamous papillomatosis squamous papillomatosis MONDO:0004269 cystic hypersecretory duct carcinoma of the breast cystic hypersecretory carcinoma of the breast breast cystic hypersecretory carcinoma MONDO:0004270 A benign, well circumscribed neoplasm that is located within the lumen of a duct in the breast parenchyma. It is characterized by the presence of glandular structures at the periphery and fibrous tissue at the center of the tumor. breast ductal adenoma ductal adenoma breast ductal adenoma MONDO:0004271 A tubular type adenoma of the breast in which, during pregnancy and lactation, the epithelial cells show extensive secretory changes. Lactating adenoma Lactating adenoma (morphologic abnormality) pregnancy adenoma MONDO:0004272 A tuberculosis that involves the urinary bladder. bladder tuberculous tuberculosis of bladder tuberculosis of bladder, unspecified examination tuberculous cystitis urinary bladder tuberculosis bladder tuberculosis urinary bladder tuberculosis MONDO:0004273 A rare, benign and well circumscribed neoplasm that arises from the breast. It is characterized by the proliferation of epithelial cells with extensive apocrine metaplasia. apocrine adenoma of breast breast apocrine adenoma breast apocrine adenoma MONDO:0004274 An invasive breast carcinoma characterized by the presence of a mesenchymal cellular component. The mesenchymal cellular component ranges from cartilaginous and osseous, to purely sarcomatous. breast carcinosarcoma mixed type metaplastic breast cancer mixed epithelial/mesenchymal metaplastic breast carcinoma MONDO:0004275 A sarcomatous transformation of pre-existing Paget disease of the bone. Osteosarcomas arising from Paget disease of the bone are high grade lesions and usually have a poor prognosis. Paget osteosarcoma Paget's osteosarcoma osteosarcoma arising in Paget disease of bone osteosarcoma arising in Paget's disease of bone osteosarcoma arising in bone Paget disease osteosarcoma arising in bone Paget's disease osteosarcoma arising in osseous Paget's disease osteosarcoma arising in osteitis deformans osteosarcoma arising in bone Paget disease MONDO:0004276 A benign epithelial neoplasm derived from ceruminous glands in the external auditory canal. It presents as a grey mass covered by skin. It is characterized by a proliferation of glands composed of cells with abundant eosinophilic and granular cytoplasm. adenoma, ceruminous gland, benign ceruminous adenoma ceruminous adenoma (morphologic abnormality) ceruminous adenoma of external auditory canal ceruminous adenoma of the external auditory canal external auditory canal ceruminous adenoma ceruminoma MONDO:0004277 A common sexually transmitted bacterial infection caused by Neisseria gonorrhoeae. It is transmitted through vaginal, oral, or anal intercourse. Infected individuals may be asymptomatic. Symptoms in males include burning sensation during urination, discharge from the penis, and painful swelling of the testes. Symptoms in females include painful urination, vaginal discharge, and vaginal bleeding between periods. If untreated, the infection may lead to pelvic inflammatory disease. GC Neisseria gonorrhoeae infection chronic gonococcal infectious disease of lower genitourinary tract chronic gonococcal infectious disease of upper genitourinary tract Crosti-gianotti syndrome Gianotti Crosti syndrome PAC PAS acrodermatitis, infantile lichenoid acrodermatitis, papular infantile infections, Neisseria gonorrhoeae papular acrodermatitis of childhood gonorrhea MONDO:0004278 An invasive transitional cell carcinoma of the bladder that exhibits spindle cell sarcomatoid features. sarcomatoid carcinoma of the urinary bladder infiltrating bladder urothelial carcinoma sarcomatoid variant infiltrating bladder urothelial carcinoma, sarcomatoid variant with heterologous elements infiltrating bladder urothelial carcinoma, sarcomatoid variant without heterologous elements infiltrating bladder urothelial carcinoma sarcomatoid variant MONDO:0004279 Diseases of the ninth cranial (glossopharyngeal) nerve or its nuclei in the medulla. The nerve may be injured by diseases affecting the lower brain stem, floor of the posterior fossa, jugular foramen, or the nerve's extracranial course. Clinical manifestations include loss of sensation from the pharynx, decreased salivation, and syncope. Glossopharyngeal neuralgia refers to a condition that features recurrent unilateral sharp pain in the tongue, angle of the jaw, external auditory meatus and throat that may be associated with syncope. Episodes may be triggered by cough, sneeze, swallowing, or pressure on the tragus of the ear. (Adams et al., Principles of Neurology, 6th ed, p1390) glossopharyngeal nerve motor peripheral neuropathy motor peripheral neuropathy of glossopharyngeal nerve glossopharyngeal motor neuropathy MONDO:0004280 asymmetric motor neuropathy MONDO:0004281 An eccrine porocarcinoma that arises from the sweat glands in the vulva. eccrine porocarcinoma of mammalian vulva mammalian vulva eccrine porocarcinoma vulvar eccrine porocarcinoma vulvar eccrine porocarcinoma MONDO:0004283 A vulvar sweat gland carcinoma characterized by the presence of clear cells. vulvar clear cell hidradenocarcinoma vulvar clear cell hidradenocarcinoma MONDO:0004285 A malignant glandular neoplasm arising from the exocrine pancreas. Microscopically it is characterized by the presence of mucoid stroma formation, papillary patterns, and cystic changes. It has been associated with KRAS and Tp53 gene mutations. intraductal papillary mucinous carcinoma of pancreas intraductal papillary-mucinous carcinoma of pancreas pancreatic intraductal papillary mucinous carcinoma pancreatic intraductal papillary-mucinous carcinoma intraductal papillary-colloid carcinoma of pancreas intraductal papillary-colloid carcinoma of the pancreas intraductal papillary-colloidal carcinoma of pancreas intraductal papillary-colloidal carcinoma of the pancreas intraductal papillary-mucinous carcinoma of the pancreas pancreatic intraductal papillary-colloid carcinoma pancreatic intraductal papillary-colloidal carcinoma pancreatic intraductal papillary-mucinous carcinoma MONDO:0004286 A usually slow-growing epithelial neoplasm with ductal differentiation that arises from the exocrine pancreas and grows mostly within the pancreatic ducts. Grossly, it is characterized by the presence of intraductal masses. Morphologically, there is proliferation of mucin-producing cells within the pancreatic ducts, intraductal accumulation of mucin, and a papillary growth pattern. It may be associated with the presence of an invasive carcinoma. It usually occurs in older patients. Signs and symptoms include epigastric pain, weight loss, jaundice, chronic pancreatitis, and diabetes mellitus. IPMN pancreatic IPMN pancreatic intraductal papillary-mucinous neoplasm pancreatic intraductal papillary-mucinous tumor intraductal papillary mucinous neoplasm pancreatic intraductal papillary-mucinous neoplasm MONDO:0004287 A pancreatic ductal adenocarcinoma characterized by the presence of adenocarcinoma cells with foamy cytoplasm. pancreatic foamy gland adenocarcinoma pancreatic foamy gland adenocarcinoma MONDO:0004288 An infiltrating ductal breast carcinoma associated with stromal fibrosis. infiltrating carcinoma of breast with fibrotic Stroma infiltrating carcinoma of the breast with fibrotic Stroma scirrhous breast carcinoma scirrhous carcinoma of breast scirrhous carcinoma of the breast breast scirrhous carcinoma scirrhous breast carcinoma MONDO:0004289 An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the glottic area of the larynx. It usually presents with hoarseness. glottic verrucous carcinoma glottis verrucous carcinoma verrucous carcinoma of glottis verrucous carcinoma of the glottis glottis verrucous carcinoma MONDO:0004290 An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the subglottic area of the larynx. subglottic verrucous carcinoma subglottis verrucous carcinoma verrucous carcinoma of subglottis verrucous carcinoma of the subglottis subglottis verrucous carcinoma MONDO:0004291 A squamous cell carcinoma of the larynx that arises from the subglottic area. Symptoms include dyspnea and stridor. It spreads to the hypopharynx, trachea, and thyroid gland. epidermoid carcinoma of subglottis epidermoid carcinoma of the subglottis squamous cell carcinoma of subglottis squamous cell carcinoma of the subglottis subglottic epidermoid carcinoma subglottic squamous cell carcinoma subglottis epidermoid carcinoma subglottis squamous cell carcinoma subglottis squamous cell carcinoma MONDO:0004292 An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the supraglottic area of the larynx. supraglottic part of larynx verrucous carcinoma supraglottic verrucous carcinoma supraglottis verrucous carcinoma verrucous carcinoma of supraglottis verrucous carcinoma of the supraglottis supraglottis verrucous carcinoma MONDO:0004293 A squamous cell carcinoma of the larynx that arises from the supraglottic area. Signs and symptoms include dysphagia, a sensation of foreign body in the throat, and hemoptysis. It spreads to the space anterior to the epiglottis, pyriform sinus, and base of the tongue. epidermoid carcinoma of supraglottis epidermoid carcinoma of the supraglottis squamous cell carcinoma of supraglottis squamous cell carcinoma of the supraglottis supraglottic epidermoid carcinoma supraglottic part of larynx squamous cell carcinoma supraglottic squamous cell carcinoma supraglottis epidermoid carcinoma supraglottis squamous cell carcinoma supraglottis squamous cell carcinoma MONDO:0004294 A rare malignant trophoblastic tumor that arises from the ovary as a result of ectopic ovarian pregnancy. There is no germ cell component present. gestational ovarian choriocarcinoma gestational ovarian choriocarcinoma MONDO:0004295 A carcinoma arising in the lung due to exposure to asbestos. asbestos-related lung cancer asbestos-related lung carcinoma asbestos-related lung carcinoma MONDO:0004296 A variant of cervical squamous cell carcinoma characterized by the presence of islands of cells with uniform, vesicular nuclei and prominent nucleoli and a dense lymphocytic infiltrate. cervical lymphoepithelioma-like carcinoma cervical lymphoepithelioma-like carcinoma MONDO:0004297 A rare, usually aggressive primary thymic carcinoma, characterized by a syncytial growth of undifferentiated carcinoma cells and the presence of a lymphoplasmacytic infiltrate. More than 40% of cases are associated with Epstein-Barr virus infection. lymphoepithelial Thymus cancer lymphoepithelial cancer of Thymus lymphoepithelial cancer of the Thymus lymphoepithelioma-like Thymus carcinoma lymphoepithelioma-like carcinoma of Thymus lymphoepithelioma-like carcinoma of the Thymus lymphoepithelioma-like thymic carcinoma malignant lymphoepithelial thymoma thymic lymphoepithelioma-like carcinoma lymphoepithelioma-like thymic carcinoma MONDO:0004298 A disease involving the stomach. disease of stomach disease or disorder of stomach disorder of stomach gastropathy stomach disease stomach disease or disorder stomach disorder gastric disease stomach disorder MONDO:0004299 infiltrating bladder lymphoepithelioma-like carcinoma infiltrating bladder lymphoepithelioma-like carcinoma MONDO:0004301 A conventional osteosarcoma characterized by the presence of spindle shaped cells. fibroblastic osteogenic sarcoma fibroblastic osteosarcoma fibroblastic osteosarcoma (morphologic abnormality) fibrosarcomatous osteogenic sarcoma fibrosarcomatous osteosarcoma FIOS fibrosarcomatous osteosarcoma MONDO:0004302 A parathyroid gland adenoma composed predominantly of neoplastic chief cells. These cells have either slightly eosinophilic or vacuolated cytoplasm, and round nuclei. chief cell adenoma chief cell adenoma of parathyroid chief cell adenoma of parathyroid gland chief cell adenoma of the parathyroid chief cell adenoma of the parathyroid gland parathyroid chief cell adenoma parathyroid gland chief cell adenoma chief cell adenoma MONDO:0004303 A parathyroid gland adenoma composed predominantly of neoplastic cells with clear cytoplasm. clear cell adenoma of parathyroid clear cell adenoma of parathyroid gland clear cell adenoma of the parathyroid clear cell adenoma of the parathyroid gland parathyroid clear cell adenoma parathyroid gland clear cell adenoma parathyroid gland transitional clear cell adenoma parathyroid transitional clear cell adenoma transitional clear cell adenoma of parathyroid transitional clear cell adenoma of parathyroid gland transitional clear cell adenoma of the parathyroid transitional clear cell adenoma of the parathyroid gland parathyroid gland clear cell adenoma MONDO:0004304 A parathyroid gland adenoma that contains a mixture of neoplastic cells (chief cells, oncocytes, and clear cells). mixed cell type adenoma of parathyroid mixed cell type adenoma of parathyroid gland mixed cell type adenoma of the parathyroid mixed cell type adenoma of the parathyroid gland parathyroid gland mixed cell type adenoma parathyroid mixed cell type adenoma mixed cell type adenoma of parathyroid MONDO:0004305 A parathyroid gland adenoma composed predominantly or entirely of neoplastic cells with abundant granular eosinophilic cytoplasm. parathyroid gland oncocytic adenoma parathyroid oncocytic adenoma parathyroid oncocytic adenoma MONDO:0004306 A high grade malignant bone-forming mesenchymal neoplasm that produces osteoid and occurs in childhood. It arises from the medullary portion of the bone. It affects the long bones, and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis. childhood conventional osteosarcoma childhood intracortical osteosarcoma childhood intracortical osteosarcoma MONDO:0004307 A rare condition characterized by diffuse spread of sarcoma cells throughout the meninges. The neoplastic cells are derived from meningeal connective tissue. Clinically, this disorder may present as a fulminant pachymeningitis and/or encephalitis. meningeal cluster sarcomatosis meningeal sarcomatosis meningeal sarcomatosis (morphologic abnormality) meninges sarcomatosis sarcomatosis of meninges sarcomatosis of the meninges sarcomatosis of the meninges MONDO:0004308 A rare sarcoma arising from the meninges. meningeal cluster sarcoma meningeal sarcoma meninges sarcoma sarcoma of meningeal cluster sarcoma of meninges sarcoma of the meninges meningeal sarcoma MONDO:0004309 The occurrence of several sarcomas in different anatomic locations. sarcomatosis sarcomatosis (morphologic abnormality) sarcomatosis NOS (morphologic abnormality) sarcomatosis MONDO:0004310 An embryonal tumor with multilayered rosettes, C19MC-altered, occurring in adults. embryonal tumor with multilayered rosettes, C19MC-altered adult embryonal tumor with multilayered rosettes, C19MC-altered adult ependymoblastoma ependymoblastoma of adults adult embryonal tumor with multilayered rosettes, c19mc-altered MONDO:0004311 A carcinoma that involves the bulbo-urethral gland. bulbo-urethral gland carcinoma carcinoma of Cowper glands carcinoma of bulbo-urethral gland Cowper gland carcinoma carcinoma of Cowper glands MONDO:0004312 A meningioma that affects the suprasellar region. meningioma (disease) of sella turcica sella turcica meningioma (disease) suprasellar meningioma MONDO:0004313 A meningioma that affects the trigeminal ganglion. Gasserian meningioma gasserian ganglion meningioma (disease) meningioma (disease) of gasserian ganglion meningioma of Gasserian ganglion meningioma of the Gasserian ganglion gasserian ganglion meningioma MONDO:0004314 malignant cutaneous granular cell tumor malignant granular cell neoplasm of skin malignant granular cell neoplasm of the skin malignant granular cell skin neoplasm malignant granular cell skin tumor malignant granular cell tumor of skin malignant granular cell tumor of the skin malignant cutaneous granular cell skin tumor MONDO:0004315 An intrahepatic cholangiocarcinoma that arises from the canals of Hering. CLC cholangiocarcinoma of intralobular bile duct cholangiolocellular carcinoma intralobular bile duct cholangiocarcinoma cholangiolocellular carcinoma MONDO:0004316 A histologic variant of squamous cell carcinoma that arises from the skin. It is characterized by loosening of the intercellular bridges between the malignant cells which results in acantholysis. acantholytic squamous cell carcinoma of the skin acantholytic squamous cell skin carcinoma acantholytic squamous cell carcinoma of skin acantholytic squamous cell skin carcinoma MONDO:0004317 Multiple meningiomas that arises from the spinal meninges. multiple Meningiomas of spinal canal and spinal cord multiple intraspinal Meningiomas multiple meningiomas of the spinal canal and spinal cord multiple spinal canal and spinal cord Meningiomas multiple spinal canal and spinal cord meningioma MONDO:0004318 An aggressive small cell neuroendocrine carcinoma that arises from the ovary. Morphologically, it resembles the small cell carcinoma that arises from the lung. ovarian small cell carcinoma, pulmonary type pulmonary type ovarian small cell carcinoma MONDO:0004319 An undifferentiated small cell carcinoma that arises from the ovary and is associated with hypercalcemia. Electron microscopic studies show neurosecretory granules are either absent or, when present, are in small numbers. SCCOHT ovarian small cell carcinoma, hypercalcemic type hypercalcemic type ovarian small cell carcinoma MONDO:0004320 adult infiltrating astrocytic neoplasm adult infiltrating astrocytic tumor adult infiltrating astrocytoma adult infiltrating astrocytic neoplasm MONDO:0004321 An adenocarcinoma that arises from the endometrium and is characterized by the presence of both type I and type II endometrial adenocarcinoma components. The minor component constitutes at least 5% of the entire tumor. endometrial mixed adenocarcinoma endometrial mixed adenocarcinoma MONDO:0004322 A malignant germ cell tumor that arises from the ovary and is composed of cytotrophoblasts, syncytiotrophoblasts, and extravillous trophoblasts. The prognosis is less favorable than gestational choriocarcinoma. non-gestational ovarian choriocarcinoma MONDO:0004323 The loss of muscle tissue due to inactivity or disease. amyotrophia muscle wasting wasting - muscle muscular atrophy MONDO:0004324 A benign neoplasm that arises from the testis and is characterized by the presence of fusiform cells and collagenization. testicular fibroma MONDO:0004325 A rare benign tumor that arises from the testis and is characterized by the presence of lipid-rich neoplastic spindle cells. testis thecoma thecoma of testis testicular thecoma MONDO:0004326 A benign neoplasm that arises from the ciliated respiratory mucosa that lines the sphenoid sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma. inverted papilloma of sphenoid sinus inverted papilloma of the sphenoid sinus sphenoidal sinus inverted papilloma sphenoid sinus inverted papilloma MONDO:0004327 A papilloma that arises from the ciliated respiratory mucosa that lines the sphenoid sinus. It is classified as inverted papilloma and oncocytic papilloma. Schneiderian papilloma of the sphenoid sinus sphenoid sinus Schneiderian papilloma Schneiderian papilloma of sphenoid sinus sphenoid sinus Schneiderian papilloma MONDO:0004328 An adenocarcinoma that arises from the maxillary sinus. It is classified as intestinal-type or non-intestinal-type adenocarcinoma. Nasal obstruction and epistaxis are the presenting signs. adenocarcinoma of the maxillary sinus maxillary sinus adenocarcinoma adenocarcinoma of maxillary sinus maxillary sinus adenocarcinoma MONDO:0004329 A non-invasive pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that exhibit loss of polarity, nuclear stratification, hyperchromasia, and pleomorphism. There is severe architectural atypia and frequent mitotic figures present. pancreatic intraductal papillary mucinous neoplasm with high grade dysplasia pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia pancreatic non-invasive intraductal papillary-mucinous carcinoma pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia MONDO:0004330 A sarcoma arising from the leptomeninges. leptomeningeal sarcoma leptomeninx sarcoma sarcoma of leptomeninges sarcoma of leptomeninx sarcoma of the leptomeninges sarcoma, leptomeningeal, malignant sarcoma, meningeal leptomeninges sarcoma leptomeningeal sarcoma MONDO:0004331 A adenocarcinoma that involves the urachus. bladder urachal adenocarcinoma urachus adenocarcinoma adenocarcinoma of the urachus urachal adenocarcinoma bladder urachal adenocarcinoma MONDO:0004332 A malignant neoplasm involving the lung hilus. cancer of lung hilus lung hilus cancer malignant hilar lung neoplasm malignant hilar lung tumor malignant lung hilum neoplasm malignant lung hilum tumor malignant lung hilus neoplasm malignant neoplasm of lung hilum malignant neoplasm of lung hilus malignant neoplasm of the lung hilum malignant tumor of lung hilum malignant tumor of the lung hilum primary malignant neoplasm of hilus of lung lung hilum cancer MONDO:0004333 A malignant, ectopic ACTH secreting pancreatic neuroendocrine tumor, associated with Cushing's syndrome. The prognosis is usually poor. pancreatic ACTH producing NET pancreatic ACTH producing neuroendocrine tumor pancreatic ACTH producing tumor pancreatic ACTH-producing neuroendocrine tumor pancreatic adrenocorticotropic hormone producing tumor pancreatic ACTH hormone producing tumor pancreatic ACTH-producing neuroendocrine tumor MONDO:0004334 A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the absence of a hormone-related clinical syndrome. inactive pancreatic endocrine tumor non-functional pancreatic neuroendocrine tumor non-functioning PNET non-functioning pancreatic NET non-functioning pancreatic endocrine tumor non-functioning pancreatic neuroendocrine tumor non-functioning well differentiated pancreatic endocrine tumor non-functioning well-differentiated NEN of pancreas non-functioning well-differentiated neuroendocrine neoplasm of pancreas non-functioning well-differentiated pancreatic NEN non-functioning well-differentiated pancreatic neuroendocrine neoplasm non-syndromic pancreatic NET non-syndromic pancreatic neuroendocrine tumor nonfunctional pancreatic NET nonfunctional pancreatic neuroendocrine tumor nonsyndromic pancreatic endocrine tumor nonsyndromic pancreatic neuroendocrine tumor non functioning pancreatic endocrine tumor non-functioning EPTs non-functioning endocrine pancreatic tumors non-functioning neuroendocrine tumor of pancreas non-functional pancreatic neuroendocrine tumor https://rarediseases.info.nih.gov/diseases/4002/non-functioning-pancreatic-endocrine-tumor MONDO:0004335 A disease or disorder that involves the digestive system. alimentary system disease digestive disease digestive system disease digestive system disease or disorder digestive system disorder disease of digestive system disease or disorder of digestive system disorder of digestive system gastroenterological system disease gastroenterological system disorder gastroenteropathy gastrointestinal disease gastrointestinal disorder gastrointestinal system disease gastrointestinal system disorder git disease stomach or intestinal disorder digestive system disorder MONDO:0004336 An infiltrating adenocarcinoma arising from the rectum. It is characterized by the presence of malignant glandular cells with prominent intracytoplasmic mucin. These cells constitute more than 50% of the malignant cellular population. rectal signet Ring cell adenocarcinoma rectum signet ring cell carcinoma signet Ring adenocarcinoma of rectum signet Ring adenocarcinoma of the rectum signet Ring cell adenocarcinoma of rectum signet Ring cell adenocarcinoma of the rectum rectum signet ring adenocarcinoma rectal signet ring cell adenocarcinoma MONDO:0004337 Paget disease involving the perianal skin. Paget disease of the anal margin Paget's disease of the anal margin anal margin Paget's disease perianal skin Paget disease perianal skin Paget's disease perianal skin mammary Paget's disease perianal skin Paget disease MONDO:0004338 cancer of retinal cell malignant neoplasm of retinal cell malignant retinal cell neoplasm retinal cell cancer retinal cell cancer MONDO:0004339 A meningioma that affects the tuberculum sellae. meningioma of the tuberculum sellae meningioma of tuberculum sellae sella turcica neoplasm of tuberculum sellae tuberculum sellae sella turcica neoplasm tuberculum sellae meningioma MONDO:0004340 A carcinoma that arises from the pancreas showing a mixture of ductal and neuroendocrine malignant cells in both the primary tumor and in the metastatic sites. mixed ductal-endocrine carcinoma of the pancreas mixed ductal-neuroendocrine carcinoma of the pancreas mixed ductal-endocrine carcinoma mixed ductal-endocrine carcinoma of pancreas MONDO:0004341 An infiltrating pancreatic ductal adenocarcinoma, characterized by the presence of malignant cells floating in pools of mucin. It has a more favorable prognosis than the conventional infiltrating ductal adenocarcinoma. It often arises in association with intraductal pancreatic mucinous neoplasms and in some cases it may result in the development of pseudomyxoma peritonei. colloid carcinoma of the pancreas mucinous Noncystic carcinoma pancreatic mucinous Noncystic carcinoma colloid carcinoma of the pancreas MONDO:0004343 A cystic adenocarcinoma characterized by the presence of relatively uniform neoplastic cells which produce pancreatic enzymes and are arranged in acinar patterns. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It usually has an aggressive clinical course. acinar cell cystadenocarcinoma acinar cell cystadenocarcinoma (morphologic abnormality) acinar cell cystadenocarcinoma of pancreas acinar cell cystadenocarcinoma of the pancreas pancreatic acinar cell cystadenocarcinoma pancreatic acinar cell cystadenocarcinoma MONDO:0004344 A malignant hemangiopericytoma occurring in childhood. malignant hemangiopericytoma malignant childhood hemangiopericytoma malignant pediatric hemangiopericytoma Editor note: check SFT/hemangiopericytoma/spindle cell tumor childhood malignant hemangiopericytoma MONDO:0004345 A malignant peripheral nerve sheath tumor occurring in children. malignant peripheral nerve sheath tumor childhood MPNST childhood malignant neoplasm of peripheral nerve sheath childhood malignant neoplasm of the peripheral nerve sheath childhood malignant neurilemmoma childhood malignant peripheral nerve sheath neoplasm childhood malignant peripheral nerve sheath tumor childhood malignant schwannoma childhood malignant tumor of peripheral nerve sheath childhood malignant tumor of the peripheral nerve sheath childhood neurofibrosarcoma childhood neurogenic sarcoma pediatric MPNST pediatric malignant neoplasm of peripheral nerve sheath pediatric malignant neoplasm of the peripheral nerve sheath pediatric malignant neurilemmoma pediatric malignant peripheral nerve sheath neoplasm pediatric malignant peripheral nerve sheath tumor pediatric malignant schwannoma pediatric malignant tumor of peripheral nerve sheath pediatric malignant tumor of the peripheral nerve sheath childhood malignant schwannoma MONDO:0004346 An intrahepatic cholangiocarcinoma characterized by the presence of signet ring adenocarcinoma cells. signet Ring cell intrahepatic cholangiocarcinoma signet ring cell intrahepatic cholangiocarcinoma MONDO:0004348 Consider obsoleting and ceding to HPO retinal telangiectasia MONDO:0004349 A lymphoma that involves the retina. lymphoma of retina lymphoma of the retina primary retinal lymphoma retina lymphoma retinal lymphoma retina lymphoma MONDO:0004350 Retinoblastoma during childhood that has spread beyond the eye. extraocular retinoblastoma childhood extraocular retinoblastoma childhood metastatic retinoblastoma extraocular retinoblastoma of childhood pediatric extraocular retinoblastoma pediatric extraocular retinoblastoma MONDO:0004351 A lymphoma that arises within the eye. Signs and symptoms include decreased vision, uveitis, and vitreous floaters. PIOL intraocular lymphoma primary intraocular lymphoma primary intraocular non-Hodgkin's lymphoma intraocular lymphoma MONDO:0004352 An ependymoma of the brain occurring in adults. brain ependymoma adult brain ependymoma adult brain ependymoma MONDO:0004353 A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the extrahepatic bile ducts. extrahepatic bile duct papillary neoplasm extrahepatic bile duct papillomatosis extrahepatic biliary papillomatosis extrahepatic biliary papillomatosis MONDO:0004354 Leukemia that occurs during the neonatal period. neonatal leukemia neonatal leukemia MONDO:0004355 An acute or chronic leukemia that occurs during childhood. leukemia childhood leukemia childhood leukemia (disease) leukemia (disease) of childhood pediatric leukemia (disease) childhood leukemia MONDO:0004356 A cystic neoplasm which arises from the kidney and occurs in children. It includes the cystic partially differentiated nephroblastoma and cases in which nephroblastomatous elements are not present. childhood multilocular cystic kidney neoplasm childhood multilocular cystic kidney tumor childhood multilocular cystic renal neoplasm childhood multilocular cystic renal tumor pediatric multilocular cystic kidney neoplasm pediatric multilocular cystic kidney tumor pediatric multilocular cystic renal neoplasm pediatric multilocular cystic renal tumor benign multilocular cystic renal tumor childhood multilocular cystic kidney neoplasm MONDO:0004357 A carcinoma of the larynx that arises from the supraglottic area. cancer of supraglottis cancer of the supraglottis carcinoma of supraglottic part of larynx carcinoma of supraglottis carcinoma of the supraglottis supraglottic cancer supraglottic carcinoma supraglottic part of larynx carcinoma supraglottic throat cancer supraglottis carcinoma carcinoma of supraglottis MONDO:0004358 A carcinoma of the larynx that arises from the subglottic area. cancer of subglottis cancer of the subglottis subglottic cancer subglottic throat cancer carcinoma of subglottis carcinoma of the subglottis subglottic carcinoma subglottis carcinoma subglottis carcinoma MONDO:0004359 A disorder characterized by the presence of one or more nonbizarre delusions that persist for at least 1 month; the delusion(s) are not due to schizophrenia or a mood disorder, and do not impair psychosocial functioning apart from the ramifications of the delusion(s). delusional disorder MONDO:0004360 An osteosarcoma arising from the breast tissue. breast extraskeletal osteosarcoma breast osteosarcoma breast osteosarcoma (disease) osteogenic breast sarcoma osteogenic sarcoma of breast osteogenic sarcoma of the breast osteosarcoma of breast osteosarcoma of the breast breast extraskeletal osteosarcoma MONDO:0004361 An ependymoma of the spinal cord occurring in adults. spinal cord ependymoma adult spinal cord ependymoma spinal cord ependymoma of adults adult spinal cord ependymoma MONDO:0004363 A rare spinal tumor which is highly malignant and tends to be locally invasive of surrounding neural tissue. The tumor also tends to spread throughout the neuroaxis and is often rapidly progressive. Histologically the tumors are highly cellular with nuclear and cellular pleomorphism, endothelial proliferation, mitotic figures, and, often, necrosis. This tumor has a relatively poor prognosis. Clinical features may include pain followed by rapidly progressive neurologic deficits such as extremity weakness, sensory changes, spasticity, and incontinence. (From Innocenzi et al., Clin Neurol Neurosurg 1997 Feb;99(1):1-5) adult spinal cord glioblastoma adult spinal cord glioblastoma multiforme glioblastoma multiforme of spinal cord adult spinal cord glioblastoma MONDO:0004364 choroid necrotic melanoma necrotic choroid melanoma necrotic melanoma of choroid necrotic melanoma of the choroid choroid necrotic melanoma MONDO:0004365 A uveal melanoma characterized by the presence of tumor cell necrosis. necrotic uveal melanoma MONDO:0004366 A mixed glioma characterized by the presence of astrocytic, ependymal, and oligodendroglial neoplastic components. mixed astrocytoma-ependymoma-oligodendroglioma mixed astrocytoma-ependymoma-oligodendroglioma MONDO:0004367 A meningioma that affects the petroclival region. petroclival meningioma MONDO:0004368 A meningioma that affects the sphenoorbital region. sphenoorbital meningioma MONDO:0004369 renal infectious disease MONDO:0004370 A meningioma that affects the sphenocavernous region. sphenocavernous meningioma MONDO:0004371 A clear cell meningioma arising in multiple areas of the spinal cord characterized by the presence of clear glycogen-rich polygonal cells. multifocal clear cell meningioma of spine spinal multifocal clear cell meningioma multifocal clear cell meningioma of the spine spinal multifocal clear cell meningioma MONDO:0004372 chronic toxic polyneuropathy chronic toxic polyneuropathy MONDO:0004373 A papillary meningioma occurring in adults. papillary meningioma adult papillary meningioma papillary meningioma of adults adult papillary meningioma MONDO:0004374 An osteosarcoma arising from the soft tissue, and occurring in adults. extraskeletal osteosarcoma adult extraosseous osteosarcoma adult extraskeletal osteosarcoma extraosseous osteosarcoma of adults adult extraskeletal osteosarcoma MONDO:0004375 Long-standing and persistent renal disease with glomerular filtration rate (GFR) less than 15 ml/min. ESRD ESRD, end stage renal disease chronic kidney disease, stage 5 disease (ESRD), end stage renal end stage kidney disease end stage kidney failure end stage renal disease end stage renal disease (ESRD) renal disease (ESRD), end stage renal disease, end stage end stage renal failure MONDO:0004376 An invasive, non-metastasizing neoplasm with sweat duct differentiation that arises in the area of the nipple. Local recurrences have been reported. infiltrating nipple syringomatous adenoma nipple syringomatous adenoma infiltrating nipple syringomatous adenoma MONDO:0004377 A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. It is not associated with a hormonal syndrome. non-functional pancreatic Delta cell NET non-functional pancreatic Delta cell neuroendocrine tumor non-functioning pancreatic Delta cell neoplasm non-functioning pancreatic Delta cell tumor nonfunctional Pancreatic Delta cell Neuroendocrine tumor pancreatic non-functioning delta cell tumor MONDO:0004378 An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the cerebral hemispheres and occurs in children. childhood cerebral embryonal tumor with Multilayered Rosettes, C19MC-altered childhood cerebral ependymoblastoma pediatric cerebral ependymoblastoma MONDO:0004379 A carcinoma that arises from the breast in females. It is the most common malignant tumor that affects females. breast carcinoma, female carcinoma of female breast carcinoma of the female breast female breast cancer female breast carcinoma mammary carcinoma of female breast mammary carcinoma of the female breast female breast carcinoma MONDO:0004380 A sarcoma that involves the dendritic cell. Dendritic cell sarcoma Dendritic cell sarcoma, not otherwise specified (morphologic abnormality) dendritic cell sarcoma sarcoma of dendritic cell follicular dendritic cell sarcoma Editor note: we place the NCIT class here even though it is NOS dendritic cell sarcoma MONDO:0004381 A non-invasive pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that form a single layer and are well polarized. The neoplastic cells exhibit small and uniform nuclei, mild pleomorphism, and rare mitotic figures. pancreatic intraductal papillary mucinous neoplasm with Low grade dysplasia pancreatic intraductal papillary-mucinous adenoma pancreatic intraductal papillary-mucinous neoplasm with Low grade dysplasia pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia MONDO:0004382 A non-neoplastic or neoplastic disorder that affects the larynx. Representative examples include laryngitis, vocal cord polyp, squamous papilloma, and carcinoma. disease of larynx disease or disorder of larynx disorder of larynx disorder of the larynx laryngeal disease laryngeal disorder larynx disease larynx disease or disorder laryngeal disorder MONDO:0004383 A central nervous system germinoma that occurs in an adult. central nervous system germinoma adult CNS germinoma adult central nervous system germinoma central nervous system germinoma of adults germinoma of adult CNS germinoma of adult central nervous system germinoma of the adult CNS germinoma of the adult central nervous system adult central nervous system germinoma MONDO:0004384 A benign neoplasm that arises from the ciliated respiratory mucosa that lines the maxillary sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma. inverted papilloma of maxillary sinus inverted papilloma of the maxillary sinus maxillary sinus inverted papilloma maxillary sinus inverted papilloma MONDO:0004385 A xanthogranuloma that occurs in an adult. adult xanthogranuloma xanthogranuloma of adults adult xanthogranuloma MONDO:0004386 An adenomyoma that arises from the uterine corpus and is characterized by the presence of marked glandular architectural complexity. It may recur following excision. atypical polypoid adenomyoma of body of uterus body of uterus atypical polypoid adenomyoma uterine corpus atypical polypoid adenomyoma MONDO:0004387 A non-neoplastic and self-limited condition that occurs during pregnancy. It is characterized by proliferation of luteinized stromal cells that replace the normal ovarian stromal cells. It is usually manifested with bilateral multinodular ovarian masses. Treatment is not required. leuteoma of pregnancy luteoma luteoma of pregnancy MONDO:0004389 Infestations with arthropods of the subclass acari, superorder Acariformes. mite infestation MONDO:0004390 Abnormally low intraocular pressure often related to chronic inflammation (uveitis). hypotony of eye ocular hypotension MONDO:0004392 An extraskeletal myxoid chondrosarcoma arising from the structures within the cranium. intracranial extraskeletal myxoid chondrosarcoma intracranial chondrosarcoma intracranial extraskeletal myxoid chondrosarcoma MONDO:0004393 A tumor of mixed cell type with astrocytic components as well as ependymoma components. mixed astrocytoma-ependymoma mixed astrocytoma-ependymoma MONDO:0004394 A squamous cell carcinoma that arises from the mucosal epithelial surface of the maxillary sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis. epidermoid carcinoma of maxillary antrum epidermoid carcinoma of maxillary sinus epidermoid carcinoma of maxillofacial sinus epidermoid carcinoma of the maxillary antrum epidermoid carcinoma of the maxillary sinus epidermoid carcinoma of the maxillofacial sinus maxillary antrum epidermoid carcinoma maxillary antrum squamous cell carcinoma maxillary sinus epidermoid carcinoma maxillary sinus squamous cell carcinoma maxillofacial sinus epidermoid carcinoma maxillofacial sinus squamous cell carcinoma squamous cell carcinoma of maxillary antrum squamous cell carcinoma of maxillary sinus squamous cell carcinoma of maxillofacial sinus squamous cell carcinoma of the maxillary antrum squamous cell carcinoma of the maxillary sinus squamous cell carcinoma of the maxillofacial sinus maxillary sinus squamous cell carcinoma MONDO:0004396 A meningioma that arises from the meninges of the cervical region of the spinal cord. cervical intraspinal meningioma meningioma of cervical spinal canal and spinal cord meningioma of the cervical spinal canal and spinal cord cervical spinal canal and spinal cord meningioma MONDO:0004397 A schwannoma that arises from the posterior mediastinum. It is characterized by the presence of psammoma bodies. benign mediastinal psammomatous schwannoma benign psammomatous neurilemmoma of mediastinum benign psammomatous neurilemmoma of the mediastinum benign psammomatous schwannoma of mediastinum benign psammomatous schwannoma of the mediastinum benign mediastinal psammomatous neurilemmoma MONDO:0004398 A schwannoma that arises from the posterior mediastinum. It is the most common neurogenic tumor of the mediastinum. Excision is usually curative. benign mediastinal neurilemmoma benign mediastinal schwannoma benign neurilemmoma of mediastinum benign neurilemmoma of the mediastinum benign schwannoma of mediastinum benign schwannoma of the mediastinum mediastinal neurilemmoma mediastinal schwannoma mediastinum schwannoma neurilemmoma of mediastinum neurilemmoma of the mediastinum schwannoma of mediastinum schwannoma of the mediastinum mediastinal schwannoma MONDO:0004400 A type A thymoma which is characterized by an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize. malignant type A thymoma thymoma, medullary, malignant malignant type A thymoma MONDO:0004401 Malignant testicular germ cell tumor that is resistant to treatment. refractory cancer of testis refractory cancer of the testis refractory malignant testicular germ cell tumor refractory testicular cancer refractory testicular carcinoma testis refractory cancer MONDO:0004402 A yolk sac tumor that arises from the testis and is characterized by the presence of gland-like spaces, irregular alveoli, and tubular structures. testicular yolk sac tumor, glandular-alveolar pattern glandular-alveolar pattern testicular yolk sac tumor testicular yolk sac tumor, glandular-alveolar pattern MONDO:0004403 A T lymphoblastic leukemia/lymphoma that occurs during childhood. childhood T lymphoblastic leukemia/lymphoma childhood precursor T-lymphoblastic lymphoma/leukemia pediatric precursor T-lymphoblastic lymphoma/leukemia precursor T-lymphoblastic lymphoma/leukemia of childhood childhood precursor T-lymphoblastic lymphoma/leukemia MONDO:0004404 T-lymphoblastic leukemia/lymphoma resistant to treatment precursor T lymphoblastic lymphoma/leukemia refractory refractory T lymphoblastic leukemia/lymphoma refractory precursor T-lymphoblastic lymphoma/leukemia refractory precursor T-lymphoblastic lymphoma/leukemia MONDO:0004405 An adenocarcinoma arising from Barrett metaplastic epithelium in the esophagus. There is evidence supporting the idea that the Barrett adenocarcinomas develop through a stepwise progression through intestinal metaplastic epithelium to epithelial dysplasia to malignancy. Adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. In terms of grading, they are well or moderately differentiated adenocarcinomas. -- 2002 Barrett adenocarcinoma Barrett's adenocarcinoma adenocarcinoma arising in Barrett's mucosa Barrett adenocarcinoma MONDO:0004406 A mixed germ cell tumor of central nervous system that occurs in an adult. central nervous system Mixed germ cell tumor adult central nervous system mixed germ cell tumor adult mixed germ cell tumor of central nervous system mixed germ cell tumor of central nervous system of adults adult central nervous system mixed germ cell tumor MONDO:0004407 A neuroblastic tumor characterized by the presence of a ganglioneuroblastoma component and the formation of Schwannian stroma which is the predominant component of the tumor volume. composite ganglioneuroblastoma, Stroma-dominant and Stroma-poor stroma-dominant and stroma-poor composite ganglioneuroblastoma MONDO:0004408 A neuroblastic tumor characterized by the presence of a ganglioneuroblastoma component and the formation of Schwannian stroma which constitutes more than fifty-percent of the tumor volume. composite ganglioneuroblastoma, Schwannian Stroma-rich and Stroma-poor schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma MONDO:0004409 A carcinoma that develops in the ducts of the nipple. nipple duct carcinoma nipple duct carcinoma MONDO:0004410 A squamous cell carcinoma that arises from the penis and is characterized by the presence of malignant spindle-shaped cells. sarcomatoid carcinoma of the penis sarcomatoid penile carcinoma sarcomatoid penile squamous cell carcinoma sarcomatous carcinoma of the penis spindle cell carcinoma of the penis squamous cell carcinoma of penis, sarcomatoid type squamous cell carcinoma of the penis, sarcomatoid type sarcomatoid penile squamous cell carcinoma MONDO:0004411 A gastrin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of uniform cells that form pseudorosettes. The neoplastic cells have uniform nuclei and small amount of eosinophilic cytoplasm. duodenal G-cell gastrin producing tumor duodenal gastrin-producing NET duodenal gastrin-producing neuroendocrine tumor duodenal gastrinoma duodenum gastrin-producing neuroendocrine tumor gastrin producing tumor of duodenum gastrin producing tumor of the duodenum gastrin-producing neuroendocrine tumor of duodenum gastrinoma of duodenum gastrinoma of the duodenum malignant duodenal gastrinoma duodenal gastrin-producing neuroendocrine tumor MONDO:0004412 A very rare, aggressive carcinoma of the sweat glands arising from malignant transformation of a long standing spiradenoma. It usually grows in the upper extremities, lower extremities, trunk, and head and neck. It has the tendency to recur and metastasize most often to the lymph nodes, bones, and lungs. Spiradenocarcinoma malignant eccrine spiradenoma malignant eccrine spiradenoma (morphologic abnormality) malignant spiradenoma spiradenoma, malignant malignant spiradenoma MONDO:0004413 A variant of cervical squamous cell carcinoma characterized by the presence of polygonal squamous cells. Intercellular bridges and cytoplasmic keratinization may be present, but keratin pearls are absent. cervical non-keratinizing squamous cell carcinoma MONDO:0004414 A spectrum of endometrial abnormalities that occur in women who use tamoxifen to treat or prevent the development of breast cancer. These abnormalities include endometrial polyps, endometrial hyperplasia, and endometrial carcinoma. tamoxifen-related endometrial disorder tamoxifen-related endometrial lesion MONDO:0004415 infiltrating bladder urothelial carcinoma, Lipid-cell variant lipid-cell variant infiltrating bladder urothelial carcinoma MONDO:0004416 infiltrating bladder urothelial carcinoma, plasmacytoid variant plasmacytoid/signet ring cell bladder carcinoma plasmacytoid variant infiltrating bladder urothelial carcinoma MONDO:0004417 infiltrating bladder urothelial carcinoma, nested variant nested variant infiltrating bladder urothelial carcinoma MONDO:0004418 infiltrating bladder urothelial carcinoma, microcystic variant microcystic variant infiltrating bladder urothelial carcinoma MONDO:0004419 infiltrating bladder urothelial carcinoma, lymphoma-like variant lymphoma-like variant infiltrating bladder urothelial carcinoma MONDO:0004420 A rare tumor characterized by malignant transformation of an eccrine spiradenoma of the breast. breast malignant spiradenoma malignant breast eccrine spiradenoma malignant eccrine spiradenoma of breast malignant eccrine spiradenoma of the breast malignant spiradenoma of breast breast malignant eccrine spiradenoma MONDO:0004421 A breast papilloma characterized by the presence of predominant sclerosing architectural features. Complex sclerosing papillary lesion Complex sclerosing papillary lesion of the breast sclerosing breast papilloma sclerosing breast papilloma MONDO:0004422 A meningioma that affects the falx cerebri. Falcine meningioma falx cerebri meningioma falx cerebri meningioma (disease) meningioma (disease) of falx cerebri meningioma of cerebral falx meningioma of falx cerebri meningioma of falx of cerebrum meningioma of the cerebral falx meningioma of the falx cerebri meningioma of the falx of the cerebrum cerebral falx meningioma MONDO:0004423 An osteosarcoma arising from the brain or spinal cord. central nervous system extraskeletal osteosarcoma central nervous system osteosarcoma (disease) osteosarcoma of central nervous system osteosarcoma of the central nervous system central nervous system osteosarcoma central nervous system extraskeletal osteosarcoma MONDO:0004425 Overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (Graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor. overactive thyroid hyperthyroidism MONDO:0004426 A meningioma that affects the frontal sulcus. frontal convexity meningioma MONDO:0004427 A benign or malignant neoplasm that affects the supraglottic area of the larynx. neoplasm of supraglottic part of larynx neoplasm of supraglottis neoplasm of the supraglottis supraglottic neoplasm supraglottic part of larynx neoplasm supraglottic part of larynx neoplasm (disease) supraglottic part of larynx tumor supraglottic tumor supraglottis neoplasm supraglottis tumor tumor of supraglottic part of larynx tumor of supraglottis tumor of the supraglottis supraglottis neoplasm MONDO:0004428 A benign, well circumscribed lung neoplasm morphologically characterized by the presence of cystic spaces resembling alveoli, lined by a simple cuboidal epithelium. The cystic spaces are surrounded by a spindle cell stroma which may show myxoid changes. It is a solitary, usually peripheral lung lesion. Patients are usually asymptomatic and its discovery is an incidental finding during chest X-ray examination. Surgical excision is curative. adenoma of alveoli adenoma of the alveoli adenoma, bronchioloalveolar, benign alveolar adenoma alveolar adenoma (morphologic abnormality) alveoli adenoma MONDO:0004429 A meningioma (disease) that involves the zone of skin. meningioma (disease) of zone of skin zone of skin meningioma (disease) primary meningioma of the skin skin meningioma MONDO:0004430 A squamous cell carcinoma that arises from the penis and is characterized by a mixture of morphologic patterns (e.g., high grade squamous cell carcinoma and verrucous carcinoma or warty-basaloid carcinoma). mixed squamous cell carcinoma of the penis penis mixed squamous cell carcinoma MONDO:0004431 Bleeding into the joints. It may arise from trauma or spontaneously in patients with hemophilia. hemarthrosis of ankle and/or foot hemarthrosis of shoulder region hemarthrosis of the ankle and/or foot hemarthrosis of the shoulder region haemarthrosis of shoulder joint haemarthrosis of the ankle and foot haemarthrosis of the pelvic region and thigh hemarthrosis involving ankle and foot hemarthrosis involving forearm hemarthrosis involving hand hemarthrosis involving lower leg hemarthrosis involving pelvic region and thigh hemarthrosis involving shoulder region hemarthrosis involving upper arm hemarthrosis of forearm hemarthrosis of hand hemarthrosis of lower leg hemarthrosis of shoulder hemarthrosis of the ankle and foot hemarthrosis of the forearm hemarthrosis of the hand hemarthrosis of the lower leg hemarthrosis of the pelvic region and thigh hemarthrosis of the upper arm hemarthrosis of upper arm hemarthrosis MONDO:0004432 A benign teratoma that arises from the pericardium. benign pericardial teratoma mature pericardial teratoma mature teratoma of pericardium mature teratoma of the pericardium pericardium mature teratoma mature pericardial teratoma MONDO:0004433 A squamous cell carcinoma that arises from the penis and is characterized by the presence of a papillary growth pattern. papillary carcinoma of penis papillary carcinoma of the penis papillary penile carcinoma papillary penile squamous carcinoma papillary squamous carcinoma of penis papillary squamous carcinoma of the penis penis papillary carcinoma squamous carcinoma of penis, papillary type squamous carcinoma of the penis, papillary type papillary carcinoma of the penis MONDO:0004435 A usually aggressive malignant neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. fibrosarcoma of liver fibrosarcoma of the liver hepatic fibrosarcoma liver fibrosarcoma liver fibrosarcoma (disease) liver fibrosarcoma MONDO:0004436 A liposarcoma that arises from the ovary and is composed of round to oval mesenchymal cells, small signet ring lipoblasts, and a rich network of capillaries in a myxoid stroma. myxoid liposarcoma of ovary myxoid liposarcoma of the ovary ovarian myxoid liposarcoma ovary myxoid liposarcoma ovarian myxoid liposarcoma MONDO:0004438 A carcinoma that arises from the breast and is not caused by inherited genetic mutations. sporadic breast cancer sporadic breast carcinoma sporadic breast cancer MONDO:0004439 A meningioma that affects the periocular region. periocular meningioma MONDO:0004440 A meningioma that affects the pineal gland. meningioma (disease) of pineal body meningioma of pineal area meningioma of pineal gland meningioma of pineal region meningioma of the pineal area meningioma of the pineal gland meningioma of the pineal region pineal area meningioma pineal body meningioma (disease) pineal gland meningioma pineal meningioma pineal region meningioma MONDO:0004441 An embryonal carcinoma that arises from the ovary and occurs in children. childhood embryonal carcinoma of ovary ovarian embryonal carcinoma of childhood pediatric embryonal carcinoma of ovary pediatric embryonal carcinoma of the ovary pediatric ovarian embryonal carcinoma childhood embryonal carcinoma of the ovary childhood ovarian embryonal carcinoma MONDO:0004442 A rare malignant germ cell tumor that arises from the testis and is characterized by the presence of embryoid bodies. polyembryoma of testis polyembryoma of the testis testicular polyembryoma testis polyembryoma MONDO:0004443 A parachordoma arising from the chest wall. chest wall parachordoma parachordoma of chest wall parachordoma of the chest wall chest wall parachordoma MONDO:0004444 A rare morphologic variant of bladder carcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a tubulo-cystic pattern. bladder tubulo-cystic clear cell adenocarcinoma bladder tubulo-cystic clear cell adenocarcinoma MONDO:0004445 A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a papillary pattern. bladder papillary clear cell adenocarcinoma bladder papillary clear cell adenocarcinoma MONDO:0004446 A meningioma that affects the olfactory sulcus. meningioma (disease) of olfactory sulcus meningioma of olfactory groove meningioma of the olfactory groove olfactory sulcus meningioma (disease) olfactory groove meningioma MONDO:0004447 A meningioma that affects the pituitary stalk. meningioma (disease) of pituitary stalk meningioma of pituitary stalk meningioma of the pituitary stalk pituitary stalk meningioma (disease) pituitary stalk meningioma MONDO:0004448 A benign neoplasm that arises from the ciliated respiratory mucosa that lines the frontal sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma. frontal sinus inverted papilloma inverted papilloma of frontal sinus inverted papilloma of the frontal sinus frontal sinus inverted papilloma MONDO:0004449 A neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells within small breast ducts. intraductal breast myoepitheliosis MONDO:0004450 A occlusion precerebral artery that involves the carotid artery segment. carotid artery segment occlusion precerebral artery occlusion and stenosis of carotid artery occlusion precerebral artery of carotid artery segment carotid artery occlusion MONDO:0004451 A rare, aggressive variant of intrahepatic cholangiocarcinoma. It is characterized by the presence of adenocarcinoma cells that are intermingled with malignant pleomorphic spindle cells. intrahepatic cholangiocarcinoma with extensive sarcomatous changes sarcomatoid intrahepatic cholangiocarcinoma sarcomatous intrahepatic cholangiocarcinoma MONDO:0004452 A germinoma arising from the central nervous system during childhood. Central nervous system germinoma central nervous system germinoma of childhood pediatric central nervous system germinoma childhood central nervous system germinoma MONDO:0004453 A yolk sac tumor that arises from the testis and is characterized by the presence of myxomatous tissue that contains collections of malignant cells with prominent nucleoli. testicular yolk sac tumor, myxomatous pattern myxomatous pattern testicular yolk sac tumor testicular yolk sac tumor, myxomatous pattern MONDO:0004454 A congenital mesoblastic nephroma characterized by increased cellularity, sheet-like proliferation of fibroblastic cells, and increased mitotic activity. Necrotic changes are commonly present. cellular congenital mesoblastic nephroma cellular congenital mesoblastic nephroma MONDO:0004455 A congenital mesoblastic nephroma characterized by the presence of interlacing fascicles of fibroblastic cells, low mitotic activity, and collagen formation. classic congenital mesoblastic nephroma classic congenital mesoblastic nephroma MONDO:0004456 Disorders related or resulting from use of cocaine. cocaine abuse MONDO:0004457 A papilloma that arises from the ciliated respiratory mucosa that lines the maxillary sinus. It is classified as inverted papilloma and oncocytic papilloma. Schneiderian papilloma of the maxillary sinus maxillary sinus Schneiderian papilloma maxillary sinus paranasal sinus Schneiderian papilloma paranasal sinus Schneiderian papilloma of maxillary sinus Schneiderian papilloma of maxillary sinus maxillary sinus Schneiderian papilloma MONDO:0004458 bladder mixed adenocarcinoma MONDO:0004459 A hepatoid adenocarcinoma that involves the urinary bladder. bladder hepatoid adenocarcinoma bladder hepatoid adenocarcinoma MONDO:0004460 A thyroid gland adenoma composed of microfollicular structures. microfollicular adenoma microfollicular adenoma (morphologic abnormality) thyroid fetal adenoma thyroid gland microfollicular adenoma thyroid gland fetal adenoma MONDO:0004461 An adenoma that arises from the vagina and is characterized by a tubulovillous architectural pattern. vaginal tubulovillous adenoma vaginal tubulovillous adenoma MONDO:0004462 A mucinous cystic neoplasm that arises from the extrahepatic bile ducts. cystadenoma of extrahepatic bile duct cystadenoma of the extrahepatic bile duct extrahepatic bile duct cystadenoma extrahepatic bile duct mucinous cystic neoplasm extrahepatic bile duct cystadenoma MONDO:0004463 Primary myelofibrosis characterized by bone marrow hypercellularity and the presence of atypical megakaryocytes. There is no increase in the percentage of myeloblasts and no significant increase in reticulin or collagen fibrosis in the bone marrow. Prefibrotic/Early Primary myelofibrosis chronic idiopathic myelofibrosis, Prefibrotic stage chronic idiopathic myelofibrosis, cellular phase primary myelofibrosis, Prefibrotic stage primary myelofibrosis, Prefibrotic/early stage PMFPES cellular phase chronic idiopathic myelofibrosis MONDO:0004464 A metaplastic lesion of the urothelium found in the urethra. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi. nephrogenic adenoma of urethra urethra nephrogenic adenoma urethral nephrogenic adenoma nephrogenic adenoma of the urethra MONDO:0004465 An adenocarcinoma that arises from the periampullary region. periampullary adenocarcinoma periampullary cancer periampullary region of duodenum adenocarcinoma periampullary adenocarcinoma MONDO:0004466 neuroinflammation Editor note: check this neuronitis MONDO:0004467 A benign teratoma that arises from the stomach. mature gastric teratoma mature teratoma of stomach mature teratoma of the stomach stomach mature teratoma mature gastric teratoma MONDO:0004468 Paget disease involving the squamous epithelium of the anal canal. Paget disease of the anal canal Paget's disease of anal canal Paget's disease of the anal canal anal canal Paget disease anal canal Paget's disease anal canal mammary Paget's disease anal canal Paget disease MONDO:0004469 pseudovascular skin squamous cell carcinoma skin pseudovascular squamous cell carcinoma pseudovascular skin squamous cell carcinoma MONDO:0004471 The inflammation of one or more joints caused by a bacterial infection within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint. infectious arthritis pyogenic arthritis septic arthritis bacterial arthritis MONDO:0004472 An invasive breast adenocarcinoma characterized by the presence of tall columnar neoplastic cells that contain intracytoplasmic mucin. Grossly, cystic changes are not identified. breast columnar cell mucinous carcinoma breast columnar cell mucinous carcinoma MONDO:0004473 A malignant neoplasm that affects the epiglottis. The vast majority of cases are squamous cell carcinomas. cancer of epiglottis epiglottic cancer epiglottic throat cancer epiglottis cancer malignant Epiglottis neoplasm malignant Epiglottis tumor malignant epiglottic neoplasm malignant epiglottic tumor malignant epiglottis neoplasm malignant neoplasm of Epiglottis malignant neoplasm of anterior epiglottis malignant neoplasm of epiglottis malignant neoplasm of the Epiglottis malignant tumor of Epiglottis malignant tumor of the Epiglottis epiglottic carcinoma malignant neoplasm of anterior aspect of epiglottis malignant neoplasm of anterior surface of epiglottis epiglottis cancer MONDO:0004474 A lymphoma that arises from the gallbladder, with the bulk of the tumor located at this site. gall bladder lymphoma gallbladder lymphoma lymphoma of gall bladder lymphoma of gallbladder lymphoma of the gallbladder primary gallbladder lymphoma gallbladder lymphoma MONDO:0004475 A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of carcinoma cells with clear cytoplasm. Thymus clear cell carcinoma clear cell carcinoma of Thymus clear cell carcinoma of the Thymus thymic clear cell carcinoma thymus clear cell carcinoma thymus clear cell carcinoma MONDO:0004477 A ganglioneuroblastoma arising from the adrenal gland. adrenal ganglioneuroblastoma adrenal gland ganglioneuroblastoma adrenal gland ganglioneuroblastoma (disease) ganglioneuroblastoma (disease) of adrenal gland adrenal gland ganglioneuroblastoma MONDO:0004478 A recently recognized variant of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) that lacks somatic hypermutations of the Immunoglobulin heavy chain (IGH) genes, implying pregerminal center B-cell origin. Microarray gene expression profiling studies have demonstrated the expression of ZAP-70 gene (Syk family tyrosine kinase) in this subset of CLL/CLL. Patients with this variant of CLL/SLL have an unfavorable prognosis compared to those with somatic hypermutations of the IGH genes, with a median survival of approximately 6-8 years. CLL/SLL with unmutated IGVH chronic lymphocytic leukemia/small lymphocytic lymphoma with unmutated Immunoglobulin heavy chain variable-region Gene pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma MONDO:0004479 A malignant germ cell tumor that occurs during childhood. malignant childhood germ cell neoplasm malignant pediatric germ cell tumor malignant childhood germ cell tumor malignant pediatric germ cell neoplasm malignant childhood germ cell neoplasm MONDO:0004481 A pancreatic intraductal papillary mucinous neoplasm characterized by the presence of a focal or multifocal invasive carcinomatous component. The invasive carcinoma is either colloid or ductal adenocarcinoma. pancreatic intraductal papillary mucinous neoplasm with an associated invasive carcinoma pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma pancreatic invasive intraductal papillary-mucinous carcinoma pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma MONDO:0004482 A non-neoplastic soft tissue disorder characterized by the localized formation of reactive fibrous and bone tissues. It usually occurs in the subcutaneous tissue of the proximal phalanx. Less frequently, it involves the toe. It presents with swelling and pain of the affected area. The prognosis is excellent. However, incomplete excision may lead to the re-growth of the lesion. fibroosseous digital pseudotumor fibroosseous pseudotumor of digits fibroosseous pseudotumor of the digits fibroosseous pseudotumor of the digits MONDO:0004483 A thyroid gland adenoma composed of large cells with abundant granular eosinophilic cytoplasm and large nuclei with prominent nucleoli. OAT benign oncocytoma of the thyroid thyroid gland oncocytic adenoma Hurthle cell adenoma Hurthle cell adenoma of the thyroid Hurthle cell adenoma of the thyroid gland Hurthle cell adenoma of thyroid Hurthle cell adenoma of thyroid gland benign oncocytoma of the thyroid gland benign oncocytoma of thyroid benign oncocytoma of thyroid gland benign thyroid gland oncocytoma benign thyroid oncocytoma follicular adenoma of the thyroid gland of the oxyphilic cell type follicular adenoma of the thyroid of the oxyphilic cell type follicular adenoma of thyroid gland of oxyphilic cell type follicular adenoma of thyroid of oxyphilic cell type oncocytic adenoma of the thyroid oncocytic adenoma of the thyroid gland oncocytic adenoma of thyroid oncocytic adenoma of thyroid gland thyroid Hurthle cell adenoma thyroid follicular adenoma of oxyphilic cell type thyroid follicular adenoma of the oxyphilic cell type thyroid gland Hurthle cell adenoma thyroid gland follicular adenoma of oxyphilic cell type thyroid gland follicular adenoma of the oxyphilic cell type thyroid oncocytic adenoma thyroid gland oncocytic adenoma MONDO:0004484 A melanoma that arises from the gallbladder. gall bladder melanoma gall bladder melanoma (disease) gallbladder malignant melanoma gallbladder melanoma malignant melanoma of gallbladder malignant melanoma of the gallbladder melanoma (disease) of gall bladder melanoma of gallbladder melanoma of the gallbladder gallbladder melanoma MONDO:0004485 Inflammation of the heart characterized by infiltration of the interstitial tissues by inflammatory cells, histiocytes, and the formation of granulomas. Giant cells are often present. interstitial myocarditis MONDO:0004486 An adenomyoma that arises from the cervix and is characterized by the presence of endocervical mucinous glands and a smooth muscle cell component. There is no atypia or significant mitotic activity present. cervical adenomyoma, endocervical type endocervical type cervical adenomyoma MONDO:0004487 An adenomyoma that arises from the cervix and is characterized by the presence of endometrial type glands and endometrial stroma, surrounded by smooth muscle. There is no evidence of atypia. cervical adenomyoma, endometrial type endometrial type cervical adenomyoma MONDO:0004488 An adenomyoma that arises from the cervix and is characterized by the presence of a glandular component exhibiting architectural complexity. cervical atypical polypoid adenomyoma MONDO:0004489 A malignant trophoblastic tumor that arises from the fallopian tube during pregnancy. fallopian tube gestational choriocarcinoma gestational choriocarcinoma of fallopian tube gestational choriocarcinoma of the fallopian tube fallopian tube gestational choriocarcinoma MONDO:0004490 A gestational choriocarcinoma that involves the body of uterus. body of uterus gestational choriocarcinoma gestational choriocarcinoma of body of uterus gestational uterine corpus choriocarcinoma MONDO:0004491 An aggressive malignant tumor arising from trophoblastic cells in the uterus during pregnancy. Approximately half of the cases develop from a complete hydatidiform mole. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected. body of uterus choriocarcinoma (disease) uterine corpus gestational choriocarcinoma choriocarcinoma gestational uterine corpus choriocarcinoma uterine corpus choriocarcinoma MONDO:0004492 An inflammatory process affecting the mediastinum. https://github.com/monarch-initiative/mondo/issues/2198 There is a question whether the inflammation site is the mediastinum itself or the mediastinal pleura. We are using mediastinum here to be consistent with the definition and classification from NCIT. mediastinitis MONDO:0004493 A yolk sac tumor that arises from the testis and is characterized by the presence of numerous papillary structures that are lined by cells with prominent nucleoli. testicular yolk sac tumor, papillary pattern papillary pattern testicular yolk sac tumor testicular yolk sac tumor, papillary pattern MONDO:0004494 A yolk sac tumor that arises from the testis and is characterized by the presence of hepatoid cells collections. testicular yolk sac tumor, hepatoid pattern hepatoid pattern testicular yolk sac tumor testicular yolk sac tumor, hepatoid pattern MONDO:0004495 A cataract occurring as a sequela of myotonic dystrophy. myotonic cataract MONDO:0004496 Myocarditis is a condition that is characterized by inflammation of the heart muscle (myocardium). Some affected people have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. Myocarditis can be caused by a variety of factors including infections (viral, bacterial, parasitic, and fungal), allergic reactions to certain medications, and exposure to certain chemicals. It can also be associated with other inflammatory conditions such as lupus, Wegener's granulomatosis, giant cell arteritis and Takayasu's arteritis. Most cases occur sporadically in people with no family history of the condition. Treatment aims to address the underlying cause of the condition. Medications and rarely, a heart transplant may be needed if the heart muscle becomes weak. inflammation of myocardium myocardial inflammation myocardial inflammation (finding) myocardium inflammation myocarditis https://rarediseases.info.nih.gov/diseases/7137/myocarditis MONDO:0004497 A stage of syphilis that occurs fifteen to thirty years after the initial infection; it can include gumma formation and cardiovascular or central nervous system involvement (neurosyphilis). late syphilis late tertiary syphilis tertiary syphilis tertiary syphilis MONDO:0004498 A meningioma that arises from the meninges of the sacral region of the spinal cord. meningioma of sacral spinal canal and spinal cord meningioma of the sacral spinal canal and spinal cord sacral intraspinal meningioma sacral spinal canal and spinal cord meningioma MONDO:0004499 A lung carcinoma arising from the hilum of the lung. lung hilum cancer carcinoma of lung hilus hilar lung carcinoma lung hilum carcinoma lung hilus carcinoma lung hilum carcinoma MONDO:0004500 A carcinoma originating from the apical lung. Most superior sulcus lung carcinomas are bronchogenic carcinomas. This carcinoma may be associated with Pancoast syndrome. lt is also known as Pancoast tumor. superior sulcus carcinoma of the lung superior sulcus lung carcinoma superior sulcus carcinoma of lung lung superior sulcus carcinoma MONDO:0004501 A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The tumors are round and solitary and contain connective tissue and cystic structures lined by serous-type epithelium. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder. cystadenofibroma of fallopian tube fallopian tube cystadenofibroma fallopian tube serous cystadenofibroma fallopian tube cystadenofibroma MONDO:0004502 parapharyngeal meningioma MONDO:0004503 A meningioma that affects the upper clivus. meningioma of the upper clivus meningioma of upper clivus upper clivus meningioma MONDO:0004504 A urethra cancer that involves the penis. penile urethral malignant neoplasm penis urethra cancer urethra cancer of penis penile urethral cancer MONDO:0004505 A benign papillary neoplasm that arises in a large duct of the breast. It is characterized by the presence of a fibrovascular core that is lined by benign epithelial and myoepithelial proliferations. Patients usually present with nipple discharge. large duct breast papilloma solitary intraductal breast papilloma central breast papilloma MONDO:0004506 A benign papillary neoplasm that arises in a terminal ductal lobular unit. It is characterized by the presence of a fibrovascular core that is lined by benign epithelial and myoepithelial proliferations. Peripheral breast papillomas are often multiple and are usually found microscopically. Patients are often asymptomatic. microscopic breast papilloma peripheral breast papilloma microscopic breast papilloma MONDO:0004507 An intraductal papilloma of the breast characterized by the presence of focal epithelial atypia. atypical breast papilloma atypical breast papilloma MONDO:0004508 Inflammation of the periapical tissue. It includes general, unspecified, or acute nonsuppurative inflammation. Chronic nonsuppurative inflammation is periapical granuloma. Suppurative inflammation is periapical abscess. apical periodontitis periapical periodontitis MONDO:0004509 A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the intrahepatic bile ducts. intrahepatic bile duct papillary neoplasm intrahepatic bile duct papillomatosis intrahepatic biliary papillomatosis intrahepatic biliary papillomatosis MONDO:0004510 A rare morphologic variant of well differentiated liposarcoma occurring most often in the retroperitoneum. It is characterized by the presence of a predominant inflammatory infiltrate composed of lymphoplasmacytic aggregates. inflammatory liposarcoma inflammatory liposarcoma MONDO:0004511 A meningioma that affects the lower clivus. meningioma of Lower clivus meningioma of the lower clivus lower clivus meningioma MONDO:0004512 A meningeal melanoma with secondary diffuse meningeal spread. (WHO) melanomatosis of meningeal cluster meningeal cluster melanomatosis meningeal melanomatosis meningeal melanomatosis (morphologic abnormality) leptomeningeal melanomatosis meningeal melanomatosis MONDO:0004513 An aggressive rhabdomyosarcoma occurring in adults. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually in the lower extremities. adult pleomorphic rhabdomyosarcoma pleomorphic rhabdomyosarcoma of adults adult pleomorphic rhabdomyosarcoma MONDO:0004514 Chronic inflammation of the nasal cavity mucosa. It may lead to post-nasal drip resulting in chronic sore throat and chronic cough. rhinitis - chronic rhinitis, chronic chronic rhinitis MONDO:0004516 bulbomembranous urethral malignant neoplasm bulbomembranous urethral cancer MONDO:0004517 A tuberculosis that involves the ureter. tuberculosis of ureter ureter tuberculosis ureter tuberculosis MONDO:0004518 A malignant neoplasm that affects the portion of the urethra that is close to the outside of the body. anterior urethra malignant neoplasm anterior urethra malignant tumor anterior urethral cancer anterior urethral malignant neoplasm anterior urethral malignant tumor malignant neoplasm of anterior urethra malignant neoplasm of the anterior urethra malignant tumor of anterior urethra malignant tumor of the anterior urethra anterior urethra cancer MONDO:0004519 A rare hemangioma arising from synovium lining surfaces. angioma of synovium angioma of the synovium hemangioma of layer of synovial tissue hemangioma of synovium hemangioma of the synovium layer of synovial tissue hemangioma synovial hemangioma synovial angioma MONDO:0004520 Stage 0 includes: pTis, N0, M0, S0. pTis: Intratubular germ cell neoplasia (carcinoma in situ). N0: regional lymph node metastasis. M0: No distant metastasis. S0: Marker study levels within normal limits. (AJCC 6th and 7th eds.) intratubular embryonal carcinoma stage 0 testicular embryonal carcinoma stage 0 testicular embryonal carcinoma aJCC v6 stage 0 testicular embryonal carcinoma aJCC v6 and v7 stage 0 testicular embryonal carcinoma aJCC v7 intratubular embryonal carcinoma MONDO:0004521 An epithelioid sarcoma occurring in adults. epithelioid sarcoma adult epithelioid sarcoma epithelioid sarcoma of adults adult epithelioid sarcoma MONDO:0004522 Inflammation of the peritoneum due to infection by bacteria or fungi. Causes include liver disease, perforation of the gastrointestinal tract or biliary tract, and peritoneal dialysis. Patients usually present with abdominal pain and tenderness, fever, chills, and nausea and vomiting. It is an emergency medical condition that requires prompt medical attention and treatment. acute generalized peritonitis inflammation of peritoneum peritoneum inflammation primary bacterial peritonitis retractile mesenteritis peritonitis MONDO:0004523 A squamous cell carcinoma of the skin with a prominent clear cell component. clear cell squamous cell carcinoma of skin clear cell squamous cell carcinoma of the skin clear cell squamous cell skin carcinoma clear cell squamous cell skin carcinoma MONDO:0004524 A thyroid gland adenoma with increased cellularity and nuclear atypia. There is no capsular or vascular invasion. The clinical course is benign. atypical follicular adenoma atypical follicular adenoma (morphologic abnormality) thyroid gland atypical follicular adenoma thyroid gland atypical follicular adenoma MONDO:0004525 A contagious skin infection that is caused by the burrowing parasitic mite, Sarcoptes scabiei, and is characterized by intense itching and small, raised red spots in the area of the mite burrows. Sarcoptes scabiei caused disease or disorder Sarcoptes scabiei disease or disorder Sarcoptes scabiei infectious disease infestation by Sarcoptes scabiei infestation by Sarcoptes scabiei var hominis sarcoptic itch scabies MONDO:0004526 A benign or malignant mesenchymal neoplasm of the uterine corpus. Representative examples include leiomyoma, leiomyosarcoma, and endometrial stromal sarcoma. Stromomyoma mixed endometrial stromal and smooth muscle neoplasm uterine corpus soft tissue neoplasm mixed endometrial stromal and smooth muscle tumor MONDO:0004527 An instance of granular cell tumor that is present from birth. https://github.com/monarch-initiative/mondo/issues/4069 congenital granular cell tumor congenital granular cell tumor MONDO:0004528 A myofibroblastoma arising from the inguinal lymph nodes. It is characterized by the presence of nuclear palisading. palisaded lymph node myofibroblastoma palisaded myofibroblastoma of lymph node palisaded myofibroblastoma of the lymph node lymph node palisaded myofibroblastoma MONDO:0004529 A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. Metaplastic bone formation is not present. nonossifying fibromyxoid neoplasm nonossifying fibromyxoid tumor nonossifying fibromyxoma non-ossifying fibromyxoid tumor MONDO:0004530 A cervical adenocarcinoma with minimal stromal invasion. The risk of local lymph node metastasis is insignificant and the prognosis is excellent. cervical microinvasive adenocarcinoma early invasive cervical adenocarcinoma MONDO:0004531 Breast adenosis characterized by the proliferation of acini, a lobulated architectural pattern, and stromal sclerosis. The luminal epithelial and myopepithelial cells are preserved. Microcalcifications and foci of apocrine metaplasia may be present. breast sclerosing adenosis sclerosing adenosis sclerosing adenosis of the breast sclerosing breast adenosis sclerosing adenosis of breast MONDO:0004532 A malignant neoplasm involving the auditory system auditory system cancer cancer of auditory system malignant auditory system neoplasm malignant neoplasm of auditory system auditory system cancer MONDO:0004533 A hemangioma arising from perineural tissues. perineural hemangioma perineural angioma MONDO:0004534 A rare variant of breast adenosis characterized by the proliferation of small round glands in a collagenous stroma. The epithelial cells are cuboidal and there are no myopepithelial cells present. There is no evidence of atypia. breast microglandular adenosis microglandular adenosis of the breast microglandular adenosis of breast MONDO:0004535 A non-gestational choriocarcinoma that arises from the ovary and occurs in children. childhood choriocarcinoma of ovary childhood ovarian choriocarcinoma choriocarcinoma of ovary of childhood pediatric choriocarcinoma of ovary pediatric choriocarcinoma of the ovary pediatric ovarian choriocarcinoma childhood choriocarcinoma of the ovary MONDO:0004537 A cervical mucinous adenocarcinoma that resembles the large intestinal adenocarcinoma. cervical mucinous adenocarcinoma, intestinal variant cervical mucinous adenocarcinoma, intestinal-type intestinal type mucinous carcinoma intestinal variant cervical mucinous adenocarcinoma MONDO:0004538 A cervical mucinous adenocarcinoma characterized by the presence of malignant glandular cells that resemble those of the endocervix. cervical adenocarcinoma, endocervical type cervical mucinous adenocarcinoma, endocervical type endocervical type cervical mucinous adenocarcinoma MONDO:0004539 A cancer that involves the aorta. aorta cancer aortic malignant neoplasm cancer of aorta malignant aorta neoplasm malignant aortic neoplasm malignant neoplasm of aorta malignant neoplasm of the aorta malignant tumor of aorta malignant tumor of the aorta aortic malignant tumor MONDO:0004540 A rare variant of malignant peripheral nerve sheath tumor composed predominantly or exclusively of epithelioid cells. epithelioid MPNST epithelioid malignant peripheral nerve sheath tumor malignant epithelioid neoplasm of peripheral nerve sheath malignant epithelioid neoplasm of the peripheral nerve sheath malignant epithelioid peripheral nerve sheath neoplasm malignant epithelioid peripheral nerve sheath tumor malignant epithelioid tumor of peripheral nerve sheath malignant epithelioid tumor of the peripheral nerve sheath epithelioid malignant peripheral nerve sheath tumor MONDO:0004541 A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in pseudoglandular patterns and few lymphocytes. testicular seminoma, pseudoglandular variant pseudoglandular variant testicular seminoma MONDO:0004542 A poorly differentiated variant of adenosquamous carcinoma that arises from the cervix. It is characterized by the presence of large malignant cells with ground glass cytoplasm and stromal eosinophilic infiltrates. cervical adenosquamous carcinoma, glassy cell variant GCC of the cervix glassy cell adenocarcinoma of the uterine cervix glassy cell carcinoma of the cervix glassy cell carcinoma of the cervix uteri glassy cell variant cervical adenosquamous carcinoma cervical adenosquamous carcinoma, glassy cell variant https://rarediseases.info.nih.gov/diseases/8437/glassy-cell-carcinoma-of-the-cervix MONDO:0004543 A yolk sac tumor that arises from the testis and is characterized by the presence of immature glands. testicular yolk Sac tumor, enteric pattern enteric pattern testicular yolk sac tumor MONDO:0004544 A WHO grade II, usually recurring meningioma characterized by the predominance of tissues that are histologically similar to chordoma. chordoid meningioma meningioma, chordoid meningioma, chordoid (morphologic abnormality) CHOM chordoid meningioma MONDO:0004545 A malignant peripheral nerve sheath tumor occurring during adulthood. malignant peripheral nerve sheath tumor adult MPNST adult malignant neoplasm of peripheral nerve sheath adult malignant neoplasm of the peripheral nerve sheath adult malignant neurilemmoma adult malignant peripheral nerve sheath neoplasm adult malignant peripheral nerve sheath tumor adult malignant schwannoma adult malignant tumor of peripheral nerve sheath adult malignant tumor of the peripheral nerve sheath adult malignant schwannoma MONDO:0004546 A neoplasm (disease) that involves the lumbar nerve plexus. lumbar nerve plexus neoplasm lumbar nerve plexus neoplasm (disease) lumbar nerve plexus tumor lumbar plexus neoplasms lumbar plexus tumor neoplasm of lumbar nerve plexus neoplasm of lumbar plexus neoplasm of the lumbar plexus tumor of lumbar nerve plexus tumor of lumbar plexus tumor of the lumbar plexus lumbar plexus neoplasm MONDO:0004547 A yolk sac tumor that arises from the testis and is characterized by the presence of a meshwork of small vacuolated cells resulting in a honeycomb appearance. testicular yolk Sac tumor, microcystic pattern testicular yolk Sac tumor, reticular pattern reticular pattern testicular yolk sac tumor MONDO:0004548 A rare sex cord-stromal tumor that arises from the testis in adults. Gynecomastia is present in approximately a quarter of the patients. Several morphologic patterns have been identified and include insular, gyriform, trabecular, pseudosarcomatous, and solid. Metastases occur in approximately twenty percent of the cases. adult testicular granulosa cell tumor adult type testicular granulosa cell tumor adult type testicular granulosa cell tumor MONDO:0004549 An extrinsic allergic alveolitis caused by inhalation of cork dust containing the antigens produced by the fungus Penicillium glabrum. The symptoms include dyspnea, wheezing cough, fever and asthenia. Suberosis cork worker's lung cork workers lung cork-handlers' disease or lung cork-handlers' lung cork-handlers' disease MONDO:0004550 A melanoma within the cornea of the eye. cornea melanoma cornea melanoma (disease) corneal melanoma malignant cornea melanoma malignant corneal melanoma malignant melanoma of cornea malignant melanoma of the cornea melanoma (disease) of cornea melanoma of cornea melanoma of the cornea malignant cornea melanoma MONDO:0004551 Inflammation of a congenital diverticulum of the lower intestine. Meckel diverticulitis Meckel's diverticulum inflammation inflammation of Meckel's diverticulum Meckel's diverticulitis Meckel diverticulitis MONDO:0004552 A cervical squamous cell carcinoma with minimal stromal invasion. The risk of lymph node metastasis is low. early invasive cervical squamous cell carcinoma microinvasive cervical squamous cell carcinoma MONDO:0004554 An angiomyolipoma occurring in childhood. childhood renal angiomyolipoma kidney angiomyolipoma of childhood pediatric kidney angiomyolipoma pediatric renal angiomyolipoma childhood kidney angiomyolipoma MONDO:0004555 An angiomyolipoma arising from the kidney. angiomyolipoma of kidney angiomyolipoma of the kidney kidney angiomyolipoma renal angiomyolipoma RAML kidney angiomyolipoma MONDO:0004556 A rare squamous cell carcinoma that either arises from or is associated with the presence of inverted papilloma in the nose. carcinoma arising in nasal papillomatosis carcinoma arising in nasal papillomatosis MONDO:0004557 A fibrosarcoma that occurs in infants. It shares identical morphologic features with adult fibrosarcoma but carries the t(12;15)(p13;q25) translocation that results in ETV6-NTRK3 gene fusion. It usually affects the superficial and deep soft tissues of the extremities. The prognosis is generally much more favorable than for adult fibrosarcoma, and it rarely metastasizes. https://github.com/monarch-initiative/mondo/issues/4069 congenital fibrosarcoma infantile fibrosarcoma infantile fibrosarcoma (congenital fibrosarcoma) infantile fibrosarcoma (morphologic abnormality) IFS congenital fibrosarcoma MONDO:0004558 A thyroid gland adenoma composed of large size follicles. macrofollicular adenoma macrofollicular adenoma (morphologic abnormality) colloid adenoma thyroid gland macrofollicular adenoma MONDO:0004559 A variant of malignant peripheral nerve sheath tumor characterized by the presence of glandular epithelium. glandular MPNST glandular malignant peripheral nerve sheath tumor malignant glandular neoplasm of peripheral nerve sheath malignant glandular neoplasm of the peripheral nerve sheath malignant glandular peripheral nerve sheath neoplasm malignant glandular peripheral nerve sheath tumor malignant glandular schwannoma malignant glandular tumor of peripheral nerve sheath malignant glandular tumor of the peripheral nerve sheath malignant glandular tumor of peripheral nerve sheath MONDO:0004560 basal cell hamartoma with follicular differentiation follicular infundibulum neoplasm neoplasm of the follicular infundibulum tumor of follicular infundibulum tumor of the follicular infundibulum follicular infundibulum tumor MONDO:0004561 A melanoma affecting the retinal portion of the eye. --2003 malignant melanoma of retina malignant melanoma of the retina malignant retinal melanoma melanoma (disease) of retina melanoma of retina melanoma of the retina retina melanoma retina melanoma (disease) retinal melanoma retinal melanoma MONDO:0004562 A ductal breast carcinoma in situ, characterized by the presence of neoplastic epithelial cells with apocrine differentiation. apocrine breast carcinoma in situ apocrine carcinoma in situ of breast apocrine carcinoma in situ of the breast breast apocrine carcinoma in situ MONDO:0004563 Polycythemia that is not pathologic. physiological polycythemia MONDO:0004564 An anatomic abnormality of the thyroid gland. thyroid gland malformation thyroid malformation MONDO:0004565 Blockage of the normal flow of the intestinal contents within the bowel. bowel obstruction intestinal obstruction MONDO:0004566 Sequelae of gastrectomy from the second week after operation on. Include recurrent or anastomotic ulcer, postprandial syndromes (dumping syndrome and late postprandial hypoglycemia), disordered bowel action, and nutritional deficiencies. postgastric surgery syndrome postgastrectomy syndrome MONDO:0004567 Decrease in peristalsis in the absence of a mechanical bowel obstruction. ileus of intestine ileus MONDO:0004568 An ileus caused by abdominal or pelvic surgery, infections, disorders that affect the muscles and nerves, and medications. Signs and symptoms include those of intestinal obstruction. paralytic ileus (disease) paralytic ileus paralytic ileus (disease) paralytic ileus MONDO:0004569 brachial plexus lesion brachial plexus lesions brachial plexus neuropathy from injury MONDO:0004570 Twisting of a loop of bowel that results in intestinal obstruction. intestinal volvulus twist of intestine, bowel, or colon volvulus intestinal volvulus MONDO:0004571 intestinal impaction MONDO:0004572 An affective disorder characterized by periods of depression and hypomania. These may be separated by periods of normal mood. affective personality disorder cycloid personality cyclothymia cyclothymic personality cyclothymic disorder MONDO:0004573 A dietary deficiency of riboflavin causing a syndrome chiefly marked by cheilitis, angular stomatitis, glossitis associated with a purplish red or magenta-colored tongue that may show fissures, corneal vascularization, dyssebacia, and anemia. (Dorland, 27th ed) riboflavin deficiency vitamin B2 deficiency ariboflavinosis MONDO:0004574 Deficiency of vitamin B6. It is usually caused by alcoholism, malabsorption, or as a side effect of medications. Signs and symptoms include stomatitis, glossitis, dermatitis, peripheral neuropathy, irritability, seizures, and anemia. pyridoxine Deficincy vitamin B6 deficiency syndrome B6 deficiencies, vitamin B6 deficiency, vitamin B6 vitamin deficiencies B6 vitamin deficiency deficiencies, B6 vitamin deficiencies, vitamin B6 deficiency, B6 vitamin deficiency, pyridoxine deficiency, vitamin B 6 deficiency, vitamin B6 pyridoxine deficiency vitamin B6 deficiencies vitamin B6 deficiency vitamin deficiencies, B6 vitamin deficiency, B6 pyridoxine deficiency anemia MONDO:0004575 A condition produced by a deficiency of choline in animals. Choline is known as a lipotropic agent because it has been shown to promote the transport of excess fat from the liver under certain conditions in laboratory animals. Combined deficiency of choline (included in the B vitamin complex) and all other methyl group donors causes liver cirrhosis in some animals. Unlike compounds normally considered as vitamins, choline does not serve as a cofactor in enzymatic reactions. (From Saunders Dictionary & Encyclopedia of Laboratory Medicine and Technology, 1984) choline deficiency choline deficiency disease MONDO:0004577 Area of epithelial tissue loss from corneal surface; associated with inflammatory cells in the cornea and anterior chamber. Ulcer, corneal cornea ulcer disease ulcer disease of cornea corneal ulcer MONDO:0004578 flat retinoschisis MONDO:0004579 An inherited or acquired disorder characterized by splitting of the retina into two layers. It results in loss of vision. retinoschisis MONDO:0004580 Degeneration of the retina. degeneration of retina retina degeneration retina, Degeneration Of retinal degeneration MONDO:0004582 Inflammation of the myocardium in acute rheumatic heart disease. active rheumatic fever with myocarditis acute rheumatic carditis acute rheumatic myocarditis acute rheumatic myocarditis (disorder) [ambiguous] rheumatic degeneration of myocardium rheumatic fever with myocarditis rheumatic myocarditis rheumatoid myocarditis rheumatic myocarditis MONDO:0004583 A partial, temporary occlusion of the retinal artery. retinal transient arterial occlusion transient arterial retinal occlusion transient retinal arterial occlusion transient retinal arterial occlusion MONDO:0004584 alveolitis due to cryptostroma corticale maple bark disease maple bark stripper's disease maple bark stripper's lung maple bark-strippers' lung maple-bark strippers' lung maple bark strippers' lung MONDO:0004585 An excess quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of greater than or equal to 25 cm or a single maximum vertical pocket (MVP) of greater than 8 cm. polyhydramnios (disease) polyhydramnios polyhydramnios (disease) May be obsoleted as it represents a finding polyhydramnios MONDO:0004586 Rheumatoid lung disease is a group of lung problems related to rheumatoid arthritis. rheumatoid lung rheumatoid lung disease MONDO:0004587 An instance of night blindness that is caused by an inherited modification of the individual's genome. Oguchi's disease congenital night blindness hereditary night blindness hereditary night blindness MONDO:0004588 Inability to see clearly in dim light. nyctalopia night blindness MONDO:0004591 An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy. impetigo herpetiformis MONDO:0004592 A contagious bacterial cutaneous infection that affects children and is usually caused by Staphylococcus aureus. It usually presents in the face with honey colored scabs. impetigo MONDO:0004593 Distension of the Bartholin gland duct caused by an accumulation of mucus in the duct, usually as a result of obstruction of the gland duct orifice. Bartholin's cyst Bartholin's duct cyst cyst of Bartholin's gland cyst of Bartholin's gland duct Bartholin duct cyst MONDO:0004594 puerperal pulmonary embolism MONDO:0004596 Hypertrophy and dilation of the right ventricle of the heart that is caused by pulmonary hypertension. This condition is often associated with pulmonary parenchymal or vascular diseases, such as chronic obstructive pulmonary disease and pulmonary embolism. cardiopulmonary disease cor pulmonale pulmonary heart disease disease, pulmonary heart diseases, pulmonary heart heart disease, pulmonary heart diseases, pulmonary pulmonary heart diseases cor pulmonale MONDO:0004597 Localized necrosis of lung tissue caused by obstruction of the arterial blood supply, most often due to pulmonary embolism. infarction, pulmonary lung infarction pulmonary infarction Editor note: add terms for pulmonary necrosis pulmonary embolism and infarction MONDO:0004598 A form of acute right heart failure produced by a sudden increase in resistance to blood flow in the pulmonary circulation. https://github.com/monarch-initiative/mondo/issues/5145 acute pulmonary heart disease cor pulmonale, acute acute cor pulmonale MONDO:0004599 A substance abuse that involves the recurring use of barbiturate drugs despite negative consequences. barbiturate abuse MONDO:0004600 schilling's leukemia monocytic leukemia MONDO:0004601 Ulcer of lower limbs is a chronic ulcer of skin where the ulcer is not a decubitus ulcer. Ulcer of ankle Ulcer of calf Ulcer of heel and midfoot Ulcer of thigh ulcer of lower limbs MONDO:0004603 collagenopathy MONDO:0004604 A subtype of classical Hodgkin lymphoma with scattered Hodgkin and Reed-Sternberg cells and a nodular or less often diffuse cellular background consisting of small lymphocytes and with an absence of neutrophils and eosinophils. (WHO, 2008) Hodgkin lymphoma, lymphocyte-rich Hodgkin lymphoma, lymphocytic-histiocytic predominance Hodgkin's disease, lymphocyte predominance Hodgkin's disease, lymphocyte predominance [obs] LRCHL classic Hodgkin lymphoma, lymphocyte-rich type lymphocyte rich Hodgkin lymphoma lymphocyte rich Hodgkin's disease lymphocyte rich Hodgkin's lymphoma lymphocyte rich classical Hodgkin lymphoma lymphocyte rich classical Hodgkin's disease lymphocyte rich classical Hodgkin's lymphoma lymphocyte-rich Classic Hodgkin lymphoma lymphocyte-rich classical Hodgkin lymphoma lymphocyte-rich classical Hodgkin's lymphoma Hodgkin's lymphoma, lymphocytic-histiocytic predominance MONDO:0004605 callous ulcer callous ulcer (morphologic abnormality) indolent ulcer indolent ulcer (morphologic abnormality) chronic ulcer of skin MONDO:0004607 A cancer involving a epiglottic vallecula. cancer of epiglottic vallecula epiglottic vallecula cancer malignant epiglottic vallecula neoplasm malignant neoplasm of epiglottic vallecula malignant tumor of vallecula vallecula cancer MONDO:0004608 A primary or metastatic malignant neoplasm that affects the oropharynx. cancer of oropharynx malignant neoplasm of junctional region of oropharynx malignant neoplasm of lateral wall of oropharynx malignant neoplasm of oropharynx malignant neoplasm of posterior wall of oropharynx malignant neoplasm of the oropharynx malignant oropharyngeal neoplasm malignant oropharyngeal tumor malignant oropharynx neoplasm malignant tumor of oropharynx malignant tumor of posterior wall of oropharynx malignant tumor of the oropharynx malignant tumour of mesopharynx oropharyngeal cancer oropharynx cancer primary malignant neoplasm of lateral wall of oropharynx oropharyngeal carcinoma oropharynx cancer MONDO:0004609 A group of acute infections caused by herpes simplex virus type 1 or type 2 that is characterized by the development of one or more small fluid-filled vesicles with a raised erythematous base on the skin or mucous membrane. It occurs as a primary infection or recurs due to a reactivation of a latent infection. (Dorland, 27th ed.) Herpesvirus hominis disease Simplexvirus caused disease or disorder Simplexvirus disease or disorder Simplexvirus infectious disease herpes simplex herpes simplex complex herpes simplex infection herpes simplex viral infection herpes simplex infectious disease MONDO:0004611 A primary or metastatic malignant neoplasm that affects the soft palate. cancer of soft palate malignant neoplasm of soft palate malignant neoplasm of the soft palate malignant soft palate neoplasm malignant soft palate tumor malignant tumor of soft palate malignant tumor of the soft palate soft palate cancer soft palate cancer MONDO:0004612 Distinctive neoplastic disorders of histiocytes. Included are malignant neoplasms of macrophages and dendritic cells. Stewart's granuloma histiocytic medullary reticulosis malignant histiocytic disease malignant midline reticulosis malignant reticulosis disorders, malignant histiocytic histiocytic disorder, malignant malignant histiocytic disorders malignant histiocytosis MONDO:0004613 Ischemia of the intestine that is rapid in onset. acute intestinal ischemia acute intestinal vascular insufficiency acute intestinal ischemia MONDO:0004614 Form of leukemia characterized by an uncontrolled proliferation of the myeloid lineage and their precursors (myeloid progenitor cells) in the bone marrow and other sites. monocytic leukemia, chronic chronic monocytic leukemia MONDO:0004615 A cancer involving a gingiva of upper jaw. cancer of gingiva of upper jaw gingiva of upper jaw cancer malignant gingiva of upper jaw neoplasm malignant neoplasm of gingiva of upper jaw malignant tumor of upper gingiva malignant tumour of upper gum upper gum cancer MONDO:0004616 A painful blister of the periungual skin that is caused by herpes simplex virus type 1 or 2. Simplexvirus caused paronychia (disease) Simplexvirus paronychia (disease) herpetic felon herpetic whitlow MONDO:0004617 Disorders characterized by hypersomnolence during normal waking hours that may impair cognitive functioning. Subtypes include primary hypersomnia disorders (e.g., idiopathic hypersomnolence; narcolepsy; and kleine-levin syndrome) and secondary hypersomnia disorders where excessive somnolence can be attributed to a known cause (e.g., drug affect, mental disorders, and sleep apnea syndrome). (From J Neurol Sci 1998 Jan 8;153(2):192-202; Thorpy, Principles and Practice of Sleep Medicine, 2nd ed, p320) primary recurrent hypersomnia recurrent hypersomnia MONDO:0004618 diplegia of upper limbs diplegia, upper diplegia of upper limb MONDO:0004619 A highly contagious viral infection caused by the measles virus. Symptoms appear 8-12 days after exposure and include a rash, cough, fever and muscle pains that can last 4-7 days. Measles vaccines are available to provide prophylaxis, usually combined with mumps and rubella vaccines (MMR). Measles morbillivirus caused disease or disorder Measles morbillivirus disease or disorder Measles morbillivirus infectious disease morbilli rubeola infection rubeola measles https://rarediseases.info.nih.gov/diseases/3434/measles MONDO:0004620 A diffuse subtype of classical Hodgkin lymphoma which is rich in Hodgkin and Reed-Sternberg cells and/or depleted in non-neoplastic lymphocytes. (WHO, 2008) Adult lymphocyte-depleted Classic Hodgkin lymphoma Hodgkin lymphoma, lymphocyte depletion Hodgkin's disease, lymphocytic depletion Hodgkin's disease, lymphocytic depletion NOS (morphologic abnormality) Hodgkin's disease, lymphocytic depletion, unspecified site, extranodal and solid organ sites Hodgkin's lymphocytic depletion of unspecified site adult HDLD adult LDHD adult lymphocyte depleted Hodgkin lymphoma adult lymphocyte depleted Hodgkin's lymphoma adult lymphocyte depleted classical Hodgkin lymphoma adult lymphocyte depletion Hodgkin's disease adult lymphocyte-depleted classical Hodgkin lymphoma classic Hodgkin lymphoma, lymphocyte-depleted type lymphocyte-depleted classical Hodgkin lymphoma Hodgkin's lymphoma, lymphocytic depletion MONDO:0004621 A malignant neoplasm involving the upper lip. cancer of upper lip malignant neoplasm of upper lip malignant upper lip neoplasm upper lip cancer upper lip cancer MONDO:0004622 CMI - chronic mesenteric ischaemia chronic mesenteric ischemia chronic intestinal vascular insufficiency MONDO:0004624 A malignant neoplasm involving the palatine uvula. cancer of palatine uvula malignant neoplasm of palatine uvula malignant palatine uvula neoplasm malignant tumor of uvula malignant uvula neoplasm malignant uvula tumor malignant uvula tumour malignant uvular neoplasm malignant uvular tumor malignant uvular tumour palatine uvula cancer uvula cancer MONDO:0004625 Inflammation of a vein. inflammation of vein vein inflammation phlebitis MONDO:0004627 Acute or chronic inflammation of the duodenum. Causes include bacterial and viral infections and gastroesophageal reflux disease. Symptoms include vomiting and abdominal pain. duodenitis duodenum inflammation inflammation of duodenum hemorrhagic duodenitis duodenitis MONDO:0004628 gastroduodenitis gastritis and duodenitis peptic ulcer gastroduodenitis gastroduodenitis MONDO:0004629 subacute delirium MONDO:0004630 substance-induced psychosis MONDO:0004631 A malignant neoplasm affecting the tongue. The vast majority of cases are carcinomas. cancer of tongue malignant neoplasm of tongue malignant tongue neoplasm malignant tongue tumor malignant tumor of the tongue malignant tumor of tongue tongue cancer tongue neoplasm malignant tongue neoplasm, malignant malignant neoplasm of anterior 2/3 of tongue malignant neoplasm of anterior two-thirds of tongue malignant neoplasm of anterior two-thirds of tongue, part unspecified malignant neoplasm of base of tongue malignant neoplasm of border of tongue malignant neoplasm of dorsal surface of tongue malignant neoplasm of dorsal tongue malignant neoplasm of dorsal tongue NOS malignant neoplasm of dorsum of tongue malignant neoplasm of fixed part of tongue malignant neoplasm of fixed part of tongue NOS malignant neoplasm of junctional zone of tongue malignant neoplasm of mobile part of tongue malignant neoplasm of mobile part of tongue NOS malignant neoplasm of other sites of tongue malignant neoplasm of the tongue malignant neoplasm of tip and lateral border of tongue malignant neoplasm of tip and/or lateral border of tongue malignant neoplasm of tongue NOS malignant neoplasm of tongue, NOS malignant neoplasm of tongue, tip and lateral border malignant neoplasm of ventral surface of tongue malignant neoplasm of ventral tongue surface malignant tumor of anterior two-thirds of tongue malignant tumor of base of tongue malignant tumor of lingual tonsil malignant tumor of mobile part of tongue malignant tumor of posterior tongue tongue neoplasm malignant stage unspecified malignant neoplasm of lingual tonsil malignant tumor of lingual tonsil (disorder) tongue carcinoma tongue cancer https://rarediseases.info.nih.gov/diseases/7779/tongue-cancer MONDO:0004633 A subtype of classical Hodgkin lymphoma with scattered Reed-Sternberg and Hodgkin cells in a diffuse or vaguely nodular mixed inflammatory background without nodular sclerosing fibrosis. (WHO, 2008) Hodgkin lymphoma, mixed cellularity Hodgkin's disease mixed cellularity Hodgkin's disease, mixed cellularity of unspecified site Hodgkin's lymphoma mixed cellularity MCCHL MCHL Mixed cellularity Classic Hodgkin lymphoma classic Hodgkin lymphoma, mixed cellularity type mixed cellularity Hodgkin lymphoma mixed cellularity Hodgkin's disease mixed cellularity Hodgkin's lymphoma mixed cellularity classical Hodgkin lymphoma Hodgkin's disease, mixed cellularity Hodgkin's lymphoma, mixed cellularity MONDO:0004634 A disease involving the vein. disease of vein disease or disorder of vein disorder of vein vein disease vein disease or disorder vein disorder MONDO:0004635 A primary or metastatic malignant neoplasm that affects the postcricoid region. malignant neoplasm of postcricoid area malignant neoplasm of the postcricoid area malignant postcricoid neoplasm malignant postcricoid tumor malignant tumor of pharyngoesophageal junction malignant tumor of postcricoid area malignant tumor of the postcricoid area postcricoid region cancer MONDO:0004636 A in situ carcinoma that involves the lip. carcinoma in situ of lip carcinoma in situ of the Lip lip in situ carcinoma stage 0 Lip cancer stage 0 Lip cancer aJCC v6 stage 0 Lip cancer aJCC v6 and v7 stage 0 Lip cancer aJCC v7 stage 0 cancer of Lip stage 0 cancer of the Lip stage 0 carcinoma of Lip stage 0 carcinoma of the Lip stage 0 lip carcinoma lip carcinoma in situ MONDO:0004637 A malignant neoplasm involving the aryepiglottic fold. aryepiglottic fold cancer cancer of aryepiglottic fold malignant aryepiglottic fold neoplasm malignant neoplasm of aryepiglottic fold malignant neoplasm of hypopharyngeal aspect of aryepiglottic fold malignant tumor aryepiglottic fold - hypopharyngeal aspect aryepiglottic fold cancer MONDO:0004638 An antiquated term that refers to a non-Hodgkin lymphoma composed of small and medium sized lymphocytes. diffuse lymphoma lymphosarcoma malignant lymphoma (category) lymphosarcoma https://rarediseases.info.nih.gov/diseases/6946/lymphosarcoma MONDO:0004639 A fulminating disease of neonates in which there is extensive mucosal ulceration, pseudomembrane formation, submucosal hemorrhage, and necrosis usually of the right colon, cecum, terminal ileum, and appendix, possibly due to perinatal intestinal ischemia and bacterial invasion. Progression can lead to necrosis, perforation and/or scarring of the intestinal tract. enterocolitis necrotizing necrotizing enterocolitis necrotizing enterocolitis in fetus or newborn perinatal necrotising enterocolitis pseudomembranous enterocolitis in newborn enterocolitis, necrotizing perinatal necrotizing enterocolitis MONDO:0004640 Inflammation of the stomach resulting from alcohol ingestion. alcoholic gastritis alcoholic gastritis, with hemorrhage alcoholic gastritis, without mention of hemorrhage alcoholic gastritis MONDO:0004641 A in situ carcinoma that involves the zone of skin. carcinoma in situ of skin carcinoma in situ of the skin carcinoma in situ of zone of skin carcinoma of skin stage 0 carcinoma of the skin stage 0 cutaneous carcinoma in situ nonmelanoma carcinoma in situ skin cancer stage 0 skin carcinoma in situ skin carcinoma stage 0 stage 0 nonmelanoma skin carcinoma in situ stage 0 skin cancer stage 0 skin cancer aJCC v6 stage 0 skin cancer aJCC v7 stage 0 skin carcinoma stage 0 zone of skin carcinoma zone of skin carcinoma in situ zone of skin in situ carcinoma skin carcinoma in situ MONDO:0004642 A cancer that involves the tonsillar pillar. malignant neoplasm of tonsillar pillar malignant neoplasm of tonsillar pillars, posterior malignant tumor of tonsillar pillar malignant tumour of tonsillar pillar tonsillar pillar cancer MONDO:0004643 A clonal proliferation of myeloid cells and their precursors in the bone marrow, peripheral blood, and spleen. When the proliferating cells are immature myeloid cells and myeloblasts, it is called acute myeloid leukemia. When the proliferating myeloid cells are neutrophils, it is called chronic myelogenous leukemia. leukemia granulocytic leukemia myelogenous leukemia myeloid leukemia, granulocytic, malignant myelocytic leukemia myelogenous leukemia myeloid granulocytic leukemia myeloid leukemia non-lymphoblastic leukemia non-lymphocytic leukemia myeloid leukemia https://rarediseases.info.nih.gov/diseases/8226/myeloid-leukemia MONDO:0004644 subacute monocytic leukemia MONDO:0004645 A malignant neoplasm involving the buccal mucosa. buccal mucosa cancer cancer of buccal mucosa malignant buccal mucosa neoplasm malignant buccal mucosa tumor malignant neoplasm of buccal mucosa malignant neoplasm of cheek, inner aspect malignant neoplasm of the buccal mucosa malignant tumor of buccal mucosa malignant tumor of the buccal mucosa cheek mucosa cancer MONDO:0004646 Death of tissue due to external pressure. decubitus (pressure) ulcer decubitus ulcer decubitus ulcer any site decubitus ulcer, elbow decubitus ulcer, lower back decubitus ulcer, other site decubitus ulcer, upper back pressure sores pressure ulcer bedsore decubitus ulcer MONDO:0004647 A malignant epithelial neoplasm which is confined to the epithelial layer without evidence of further tissue invasion. CIS carcinoma in situ carcinoma, in situ, malignant epithelial tumor, in situ, malignant intraepithelial carcinoma non-invasive carcinoma stage 0 disease Editor note: check pre-malignant vs malignant in situ carcinoma MONDO:0004648 A degenerative vascular disorder affecting the brain. It is caused by the blockage of the blood supply to the brain. It is manifested with decline of memory and cognitive functions. vascular dementia multi infarct dementia multifocal dementia vascular dementia MONDO:0004649 A pneumonia caused by anaerobic bacteria. pneumonia due to anaerobes pneumonia due to anaerobic bacteria pneumonia caused by anaerobic bacteria anaerobic pneumonia MONDO:0004650 A carotid body paraganglioma that metastasizes to other anatomic sites. carotid body paraganglioma, malignant malignant carotid body paraganglioma malignant carotid body tumor (morphologic abnormality) cancer of carotid body carotid body cancer chemodectoma, malignant malignant carotid body neoplasm malignant carotid body tumor malignant neoplasm of carotid body malignant neoplasm of the carotid body malignant tumor of carotid body malignant tumor of the carotid body malignant carotid body paraganglioma MONDO:0004651 A condition that is caused by infection with Variola, and that is characterized by small, raised bumps. Variola virus caused disease or disorder Variola virus disease or disorder Variola virus infectious disease ordinary smallpox Variola smallpox virus infection variola virus VAR infection variola virus infection smallpox https://rarediseases.info.nih.gov/diseases/7444/smallpox MONDO:0004652 Acute infection of the lung parenchyma caused by bacteria (e.g., Streptococcus pneumoniae, Haemophilus influenzae, Chlamydia pneumoniae, Mycoplasma pneumoniae, and Legionella pneumophila). Signs and symptoms include productive cough, fever, chills, shortness of breath, and chest pain. Bacteria caused pneumonia Bacteria pneumonia gram-negative pneumonia pneumonia due to other gram-negative bacteria bacterial pneumonia MONDO:0004653 A myelodysplastic/myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene. (WHO, 2001) https://github.com/monarch-initiative/mondo/issues/4487 aCML atypical CML atypical chronic myeloid leukemia atypical chronic myeloid leukemia BCR-ABL1 negative atypical chronic myeloid leukemia, BCR-ABL1 Negative subacute granulocytic leukemia subacute myelogenous leukemia subacute myeloid leukemia atypical chronic myeloid leukemia, BCR-ABL1 negative MONDO:0004656 A viral infection caused by the rubella virus. It is initially manifested with flu-like symptoms that last one or two days, followed by the development of a characteristic red rash which lasts from one to five days. The rash first appears in the neck and face. It subsequently spreads to the rest of the body. Rubella infection Rubella virus caused disease or disorder Rubella virus disease or disorder Rubella virus infectious disease german measles three-Day Measles three day measles rubella https://rarediseases.info.nih.gov/diseases/4742/rubella MONDO:0004657 disseminated chorioretinitis MONDO:0004658 A in situ carcinoma that involves the breast. breast cancer in situ breast cancer stage 0 breast carcinoma in situ breast in situ carcinoma carcinoma in situ of breast carcinoma in situ of the breast in situ breast cancer non-infiltrating breast carcinoma non-infiltrating carcinoma of breast non-infiltrating carcinoma of the breast non-invasive breast carcinoma non-invasive carcinoma of breast non-invasive carcinoma of the breast stage 0 breast cancer stage 0 breast cancer aJCC v6 stage 0 breast cancer aJCC v6 and v7 stage 0 breast cancer aJCC v7 stage 0 breast carcinoma stage 0 breast carcinoma in situ stage 0 carcinoma of breast stage 0 carcinoma of the breast breast carcinoma in situ MONDO:0004659 A carcinoma in situ involving a eye. carcinoma in situ of eye carcinoma in situ of eyeball of camera-type eye eye in situ carcinoma eyeball of camera-type eye carcinoma in situ stage 0 eye carcinoma stage 0 eyeball of camera-type eye carcinoma eye carcinoma in situ MONDO:0004660 A carcinoma in situ involving a lung. bronchial carcinoma in situ carcinoma in situ of lung lung in situ carcinoma stage 0 lung cancer stage 0 lung cancer aJCC v6 stage 0 lung cancer aJCC v6 and v7 stage 0 lung cancer aJCC v7 stage 0 lung carcinoma lung carcinoma in situ MONDO:0004661 A carcinoma that arises from the tracheal mucosa and is confined to the epithelial layer without evidence of further tissue invasion. carcinoma in situ of the trachea carcinoma in situ of trachea severe epithelial dysplasia of trachea stage 0 trachea carcinoma trachea carcinoma in situ trachea in situ carcinoma tracheal carcinoma in situ trachea carcinoma in situ MONDO:0004662 An infection that is caused by the intestinal fluke Heterophyes heterophyes, which is most commonly found in Asia, the Middle East, and Africa, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection. Heterophyes infection Heterophyes infectious disease infections, Heterophyes heterophyiasis MONDO:0004663 A in situ carcinoma that involves the colon. carcinoma in situ of colon carcinoma in situ of the colon colon cancer stage 0 colon carcinoma in situ colon in situ carcinoma colonic carcinoma in situ stage 0 carcinoma of colon stage 0 carcinoma of the colon stage 0 colon cancer stage 0 colon cancer aJCC v6 stage 0 colon cancer aJCC v6 and v7 stage 0 colon cancer aJCC v7 stage 0 colon carcinoma stage 0 colonic carcinoma colon carcinoma in situ MONDO:0004664 A parasitic infection characterized by the infestation with worms, mainly in the intestine. helminth infection helminthiasis helminthosis parasitic helminthiasis infectious disease worm infection Editor note: this is a vague grouping and does not correspond to any one taxon helminthiasis MONDO:0004665 A subtype of classical Hodgkin lymphoma characterized by collagen bands that surround at least one nodule, and Hodgkin and Reed-Sternberg cells with lacunar type morphology. (WHO, 2008) Hodgkin lymphoma, nodular sclerosis Hodgkin's disease nodular sclerosis Hodgkin's disease, nodular sclerosis NOS (morphologic abnormality) Hodgkin's disease, nodular sclerosis of unspecified site Hodgkin's nodular sclerosis NSCHL NSHD NSHL classical Hodgkin lymphoma, nodular sclerosis nodular sclerosis Classic Hodgkin lymphoma nodular sclerosis Hodgkin lymphoma nodular sclerosis Hodgkin's disease nodular sclerosis Hodgkin's lymphoma nodular sclerosis classical Hodgkin lymphoma Hodgkin's disease, nodular sclerosis Hodgkin's lymphoma, nodular sclerosis nodular sclerosis classical Hodgkin lymphoma MONDO:0004666 An infection that is most commonly caused by the intestinal fluke Metagonimus yokogawai, which is most commonly found in the Far East, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection. Metagonimus yokogawai infection infection by Metagonimus yokogawai infections, Metagonimus yokogawai metagonimiasis https://rarediseases.info.nih.gov/diseases/9745/metagonimiasis MONDO:0004667 A rare malignant neoplasm that arises from the sublingual gland. The majority are carcinomas. cancer of sublingual gland malignant neoplasm of sublingual gland malignant neoplasm of the sublingual gland malignant sublingual gland neoplasm malignant sublingual gland tumor malignant tumor of sublingual gland malignant tumor of the sublingual gland sublingual gland cancer sublingual gland cancer MONDO:0004668 A parasitic infection that is caused by liver flukes, usually Fasciola hepatica, of sheep, goats, and cattle. Humans become infected by eating uncooked, infested aquatic vegetation (classically watercress). adult flukes inhabit the bile ducts, gallbladder, and occasionally ectopic sites. Symptoms arise secondary to inflammatory response or obstruction. Fasciolosis fasciola hepatica infection infection by fasciola liver flukes sheep liver fluke infection fascioliasis https://rarediseases.info.nih.gov/diseases/6428/fascioliasis MONDO:0004669 A primary or metastatic malignant neoplasm that affects the major or minor salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma. cancer of saliva-secreting gland cancer of salivary gland cancer of the salivary gland malignant neoplasm of saliva-secreting gland malignant neoplasm of salivary gland malignant neoplasm of salivary gland duct malignant neoplasm of the salivary gland malignant saliva-secreting gland neoplasm malignant salivary gland neoplasm malignant salivary gland tumor malignant tumor of salivary gland malignant tumor of the salivary gland saliva-secreting gland cancer salivary gland cancer malignant neoplasm of major salivary gland salivary gland cancer MONDO:0004670 An autoimmune, connective tissue chronic inflammatory disorder affecting the skin, joints, kidneys, lungs, heart, and the peripheral blood cells. It is more commonly seen in women than men. Variants include discoid and systemic lupus erythematosus. lupus lupus erythematosus lupus erythematosus MONDO:0004671 A in situ carcinoma that involves the penis. Bowen disease of the penis Bowen's disease of penis Bowen's disease of the penis Queyrat erythroplasia Queyrat's erythroplasia carcinoma in situ of penis carcinoma in situ of the penis erythroplasia of Queyrat grade III penile intraepithelial neoplasia grade III squamous intraepithelial lesion of penis grade III squamous intraepithelial lesion of the penis penile carcinoma in situ penile carcinoma in situ aJCC v7 penile intraepithelial neoplasia grade III penis in situ carcinoma stage 0 penile carcinoma in situ stage 0 penis carcinoma penis carcinoma in situ MONDO:0004672 A small bowel infection that is caused by Fasciolopsis buski, which is endemic in the Far East and Southeast Asia, and which is transmitted via the consumption of raw or undercooked aquatic plants. The spectrum of manifestations range from asymptomatic to intestinal symptoms from local invasion or allergic response. infection by Fasciolopsis buski infectious disease by Fasciolopsis fasciolopsiasis MONDO:0004673 A malignant neoplasm involving the lower lip. cancer of lower lip lower lip cancer malignant lower lip neoplasm malignant neoplasm of lower lip lower lip cancer MONDO:0004674 Inflammation of the distal posterior uveal tract (choroid) and its structural and vascular attachments to the retina. It is usually caused by infection and though rare, it is clinically significant due to its most serious sequela: loss of vision. chorioretinitis (disease) chorioretinitis chorioretinitis (disease) retinochoroiditis chorioretinitis MONDO:0004675 A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5) mitochondrial encephalomyopathy MONDO:0004677 A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions. Tinea palmaris nigra infection by Cladosporium werneckii keratomycosis nigricans microsporosis nigra tinea nigra MONDO:0004678 A common fungal infection of the stratum corneum of the skin, hair, or nails by a dermatophyte. It is characterized by itching, inflammation, redness of the skin, small papular vesicles, central clearing, fissures, scaling, and/or hair loss in the affected area. fungal skin disease fungal skin diseases skin disease, fungal skin diseases, fungal dermatomycosis ringworm Editor note: check cutaneous vs superficial dermatophytosis MONDO:0004679 Leukoplakia of the vagina. leukoplakia of the vagina vaginal leukoplakia leukoplakia of vagina MONDO:0004680 primary thrombocytopenia MONDO:0004681 A group of disorders that affect a person's ability to learn or process specific types of information which is in contrast to his/her apparent level of intellect. Academic skill disorder learning disorder learning disability MONDO:0004682 A malignant form of neoplasm of retromolar area. malignant neoplasm of retromolar area malignant tumor of retromolar area neoplasm of retromolar area, malignant retromolar area cancer MONDO:0004684 A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern. https://github.com/monarch-initiative/mondo/issues/4451 Dupuytren's contracture of foot Ledderhose's disease Lederhose disease plantar fibromatosis plantar part of pes superficial Fibromatosis plantar part of pes superficial fibromatosis superficial fibromatosis of plantar part of pes plantar fascial fibromatosis plantar fibromatosis https://rarediseases.info.nih.gov/diseases/6873/ledderhose-disease MONDO:0004685 A malignant neoplasm involving the tonsillar ring. Waldeyer ring cancer cancer of tonsillar ring malignant neoplasm of Waldeyer's ring malignant neoplasm of tonsillar ring malignant tonsillar ring neoplasm malignant tumor of Waldeyer's ring tonsillar ring cancer Waldeyer's ring cancer MONDO:0004686 lattice corneal dystrophy (disease) familial amyloid neuropathy, Finnish type lattice corneal dystrophy lattice corneal dystrophy (disease) Editor note: TODO this class sourced from DO, may contain mistakes; may be confused with Lattice corneal dystrophy type II lattice corneal dystrophy MONDO:0004687 high risk non proliferative diabetic retinopathy severe NPDR severe nonproliferative diabetic retinopathy severe nonproliferative retinopathy severe npdr severe nonproliferative diabetic retinopathy MONDO:0004689 An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals. metal metabolism disorder metal metabolism, inborn error inborn metal metabolism disorder MONDO:0004690 A cancer involving a tonsillar fossa. cancer of tonsillar fossa malignant neoplasm of tonsillar fossa malignant tonsillar fossa neoplasm malignant tumor of tonsillar fossa tonsillar fossa cancer tonsillar fossa cancer MONDO:0004691 Autosomal dominant form of polycystic kidney disease. ADPKD autosomal dominant polycystic kidney disease polycystic kidney disease, autosomal dominant congenital biliary ectasias autosomal dominant polycystic kidney disease MONDO:0004693 A malignant epithelial neoplasm confined to the squamous epithelium, without invasion of the underlying tissues. carcinoma, squamous cell, in situ, malignant epidermoid carcinoma in situ epidermoid cell carcinoma in situ grade 3 SIN grade 3 squamous intraepithelial neoplasia grade III SIN grade III squamous intraepithelial neoplasia intraepithelial squamous cell carcinoma squamous carcinoma in situ squamous cell carcinoma in situ squamous cell carcinoma in-situ stage 0 squamous cell carcinoma CIN III CIN III - carcinoma in situ of cervix CIN III - severe dyskaryosis carcinoma in situ of cervix carcinoma in situ of uterine cervix cervical intraepithelial neoplasia grade III with severe dysplasia cervix Ca in situ severe dysplasia of cervix severe dysplasia of the cervix uteri squamous intraepithelial neoplasia, grade III stage 0 uterine cervix carcinoma uterine cervix in situ carcinoma squamous carcinoma in situ MONDO:0004694 Hepatopulmonary syndrome (HPS) is a lung disease characterized by widening of arteries and veins (dilatation) in the lungs in people who have chronic liver disease. Because of the dilated vases, the workload of the heart increases and the blood pumped to the body does not have enough oxygen, leading to a decreased level of oxygen in the blood (hypoxemia). The normal diameter of the lung vessels ranges between 8 and 15 μm whereas when in HPS rises to between 15 and 500 μm. While many people with HPS don't have any obvious problems, the main reported symptom is shortness of breath (dyspnea) that is worse when standing or sitting up, and is relieved when lying down (platypnea). Symptoms related to chronic liver disease (generally cirrhosis) include small red spots on the skin (spider angiomas) and abnormal vascular dilatations. Some other symptoms that have been described are infections in the brain (brain abscesses), brain bleeding and an increased number of red blood cells in the blood (polycythemia). There is currently no effective medication for HPS. Oxygen therapy may improve the breathing in some cases. Liver transplant is an efficient treatment which improves the symptoms, even in severe cases. hepatopulmonary syndrome https://rarediseases.info.nih.gov/diseases/13384/hepatopulmonary-syndrome MONDO:0004695 A rare lymphoma that arises from the liver and the bulk of the tumor is located in the liver. The most frequent types of lymphoma that arise from the liver are diffuse large B-cell lymphoma and mucosa-associated lymphoid tissue lymphoma. hepatic lymphoma liver lymphoma lymphoma of liver lymphoma of the liver primary hepatic lymphoma primary liver lymphoma liver lymphoma MONDO:0004696 A in situ carcinoma that involves the larynx. carcinoma in situ of larynx carcinoma in situ of the larynx laryngeal cancer stage 0 laryngeal carcinoma in situ laryngeal carcinoma stage 0 larynx carcinoma in situ larynx in situ carcinoma stage 0 carcinoma of larynx stage 0 carcinoma of the larynx stage 0 laryngeal cancer stage 0 laryngeal cancer aJCC v6 stage 0 laryngeal cancer aJCC v6, v7, and V8 stage 0 laryngeal cancer aJCC v7 stage 0 laryngeal cancer aJCC v8 stage 0 laryngeal carcinoma stage 0 laryngeal carcinoma in situ stage 0 laryngeal throat cancer stage 0 larynx carcinoma larynx carcinoma in situ MONDO:0004697 A rare condition that usually affects the middle-to-distal esophagus in middle-aged and elderly people. There is usually a history of tobacco smoking or alcohol intake. Dysphagia is the presenting symptom. Morphologically, the lesions are well-demarcated and are characterized by epithelial hyperplasia, thickened basal layer, prominent granular cell layer, and hyperorthokeratosis. In a minority of patients this condition is associated with adjacent high-grade squamous dysplasia and/or squamous cell carcinoma. esophageal leukoplakia (disease) esophageal epidermoid metaplasia esophageal leukoplakia esophageal leukoplakia (disease) esophagus leukoplakia leukoplakia of esophagus leukoplakia of the esophagus esophageal leukoplakia MONDO:0004698 A carcinoma in situ involving a intestine. carcinoma in situ of intestine intestine in situ carcinoma stage 0 intestine carcinoma intestine carcinoma in situ MONDO:0004699 A non-Hodgkin or Hodgkin lymphoma that arises from any part of the digestive system, with the bulk of the disease localized to that site. digestive system lymphoma gastrointestinal lymphoma lymphoma of digestive system primary digestive system lymphoma primary gastrointestinal lymphoma gastrointestinal lymphoma MONDO:0004700 A primary or metastatic malignant neoplasm involving the parotid gland. Representative examples include carcinoma, malignant mixed tumor, and non-Hodgkin lymphoma. cancer of parotid cancer of parotid gland cancer of the parotid cancer of the parotid gland malignant neoplasm of parotid malignant neoplasm of parotid gland malignant neoplasm of the parotid malignant neoplasm of the parotid gland malignant parotid gland neoplasm malignant parotid gland tumor malignant parotid neoplasm malignant parotid tumor malignant tumor of parotid malignant tumor of parotid gland malignant tumor of the parotid malignant tumor of the parotid gland parotid cancer parotid gland cancer parotid gland cancer MONDO:0004701 A benign protruding lesion arising either from the endometrial cavity (endometrial polyp) or the endocervix (endocervical polyp). It may occasionally recur following complete resection. endometrial/uterine polyp polyp of corpus uteri polyp of the uterus polyp of uterus polyp, uterus uterine polyp uterus polyp polyp of endometrium uterine polyp MONDO:0004702 The presence of whitish patches on the mucosal surface of the cervix. Histologic examination reveals hyperkeratosis. In a minority of cases, underlying dysplasia or carcinoma in situ is present. cervical leukoplakia cervix leukoplakia cervix uteri leukoplakia leukoplakia of cervix leukoplakia of cervix (uteri) leukoplakia of cervix uteri leukoplakia of the cervix leukoplakia of the cervix uteri leukoplakia of the uterine cervix leukoplakia of uterine cervix uterine cervix leukoplakia MONDO:0004703 Also known as carcinoma in situ of the urinary bladder or high grade intraurothelial neoplasia, this is a flat lesion of the transitional cell epithelium characterized by severe cytologic atypia. This lesion is confined to the urothelium, and is a precursor of invasive transitional cell carcinoma of the bladder. Stage 0is includes: Tis, N0, M0. Tis: Carcinoma in situ: "flat tumor". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.) cancer in situ of urinary bladder bladder Ca in situ bladder flat CIS bladder flat carcinoma in situ carcinoma in situ of bladder carcinoma in situ of the urinary bladder carcinoma in situ of urinary bladder flat CIS of the bladder flat CIS of the urinary bladder flat carcinoma in situ of the bladder flat carcinoma in situ of the urinary bladder high grade bladder Intraurothelial neoplasia stage 0 urinary bladder carcinoma stage 0is bladder cancer stage 0is bladder carcinoma stage 0is bladder urothelial cancer stage 0is bladder urothelial carcinoma stage 0is bladder urothelial carcinoma aJCC v6 stage 0is bladder urothelial carcinoma aJCC v6 and v7 stage 0is bladder urothelial carcinoma aJCC v7 stage 0is carcinoma of bladder stage 0is carcinoma of the bladder stage 0is carcinoma of the urinary bladder stage 0is carcinoma of urinary bladder stage 0is urinary bladder carcinoma urinary bladder carcinoma in situ urinary bladder flat CIS urinary bladder flat carcinoma in situ urinary bladder in situ carcinoma bladder carcinoma in situ MONDO:0004705 A solitary fibrous tumor that arises from the liver. It affects females more frequently than males. Signs and symptoms include the presence of an abdominal mass and abdominal discomfort. fibroma of liver fibroma of the liver hepatic fibroma liver fibroma liver localized fibrous mesothelioma liver localized fibrous tumor liver solitary fibrous tumor liver solitary fibrous tumor MONDO:0004706 discoid lupus erythematosus of eyelid MONDO:0004707 A carcinoma in situ involving a anal canal. anal canal in situ carcinoma anal carcinoma stage 0 anal intraepithelial neoplasia grade III carcinoma in situ of anal canal carcinoma in situ of anus stage 0 anal canal cancer stage 0 anal canal cancer aJCC v6 stage 0 anal canal cancer aJCC v6 and v7 stage 0 anal canal cancer aJCC v7 stage 0 anal canal carcinoma stage 0 anal canal carcinoma aJCC v6 and v7 stage 0 anal carcinoma aJCC v6 and v7 stage 0 anal carcinoma in situ anal carcinoma in situ anal canal carcinoma in situ MONDO:0004708 Stage 0 includes: For squamous cell carcinoma: Tis (HGD), N0, M0, G1, GX, Tumor location: Any. For adenocarcinoma: Tis (HGD), N0, M0, G1, GX. Tis: High-grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated. GX: Grade cannot be assessed-stage grouping as G1. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. (AJCC 7th ed.) carcinoma in situ of esophagus esophageal carcinoma in situ esophageal carcinoma in situ aJCC v7 esophagus in situ carcinoma severe esophageal dysplasia severe esophageal dysplasia aJCC v7 stage 0 carcinoma of the esophagus stage 0 esophageal cancer stage 0 esophageal cancer aJCC v7 stage 0 esophageal carcinoma in situ stage 0 esophagus carcinoma esophagus carcinoma in situ MONDO:0004709 A neoplasm involving a occipital lobe. malignant neoplasm of occipital lobe neoplasm of occipital lobe neoplasm of the occipital lobe occipital lobe neoplasm occipital lobe neoplasm (disease) occipital lobe tumor tumor of occipital lobe tumor of the occipital lobe occipital lobe neoplasm MONDO:0004710 A carcinoma in situ involving a uterus. carcinoma in situ of uterus stage 0 uterus carcinoma uterus in situ carcinoma uterus carcinoma in situ MONDO:0004712 Localized rash characterized by grouped vesicles or pustules on an erythematous base that is caused by herpes simplex virus infection. Herpes simplex dermatitis Herpes simplex virus dermatitis Simplexvirus caused dermatitis Simplexvirus dermatitis eczema herpeticum (disorder) [ambiguous] herpes simplex dermatitis Herpes simplex dermatitis of eyelid Herpes simplex eyelid dermatitis herpes simplex virus eyelid dermatitis eczema herpeticum herpes simplex dermatitis MONDO:0004713 A cancer involving a gingiva of lower jaw. cancer of gingiva of lower jaw gingiva of lower jaw cancer malignant gingiva of lower jaw neoplasm malignant neoplasm of gingiva of lower jaw malignant tumor of lower gingiva malignant tumour of lower gum lower gum cancer MONDO:0004714 A group of primary or secondary disorders affecting the muscles. It is characterized by an abnormal reduction in the muscle volume and atrophy. The atrophy may be caused by diseases of the muscle tissues or diseases of the peripheral nerves. atrophic muscular disorder atrophic muscular disease MONDO:0004715 A carcinoma in situ involving a liver. carcinoma in situ of liver carcinoma in situ of liver and biliary system carcinoma in situ of liver, gallbladder and bile ducts liver in situ carcinoma stage 0 liver carcinoma liver carcinoma in situ MONDO:0004716 A in situ carcinoma that involves the stomach. carcinoma in situ of stomach carcinoma in situ of the stomach carcinoma of stomach stage 0 carcinoma of the stomach stage 0 gastric carcinoma in situ gastric carcinoma stage 0 gastric carcinoma, stage 0 stage 0 carcinoma of stomach stage 0 carcinoma of the stomach stage 0 gastric (stomach) cancer stage 0 gastric cancer stage 0 gastric cancer aJCC v6 stage 0 gastric cancer aJCC v6 and v7 stage 0 gastric cancer aJCC v7 stage 0 gastric carcinoma stage 0 gastric carcinoma in situ stage 0 stomach cancer stage 0 stomach carcinoma stomach carcinoma in situ stomach carcinoma stage 0 stomach in situ carcinoma stomach carcinoma in situ MONDO:0004717 A vascular disease of the liver characterized by the occurrence of multiple blood-filled cysts or cavities. The cysts are lined with endothelial cells; the cavities lined with hepatic parenchymal cells (hepatocytes). Peliosis hepatis has been associated with use of anabolic steroids (anabolic agents) and certain drugs. hepatic peliosis peliosis hepatis MONDO:0004718 xeroderma of eyelid MONDO:0004719 A malignant neoplasm involving the hard palate. cancer of hard palate hard palate hard palate cancer malignant hard palate neoplasm malignant hard palate tumor malignant neoplasm of hard palate malignant neoplasm of the hard palate malignant tumor of hard palate malignant tumor of the hard palate malignant tumour of hard palate hard palate cancer MONDO:0004720 A orthopoxvirus that causes a milder clinical syndrome than smallpox. Variola minor alastrim cottonpox milkpox whitepox variola minor infection MONDO:0004723 A benign smooth muscle neoplasm arising from the liver. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. hepatic leiomyoma leiomyoma of liver leiomyoma of the liver liver leiomyoma liver leiomyoma MONDO:0004724 A malignant neoplasm involving the submandibular gland. cancer of submandibular gland carcinoma of submandibular gland carcinoma of the submandibular gland malignant neoplasm of submandibular gland malignant neoplasm of submaxillary gland malignant submandibular gland neoplasm malignant tumor of submandibular gland malignant tumor of the submandibular gland submandibular gland cancer submandibular gland carcinoma submandibular gland cancer MONDO:0004725 A in situ carcinoma that involves the rectum. carcinoma in situ of rectum carcinoma in situ of the rectum marked dysplasia of rectum marked dysplasia of the rectum marked rectal dysplasia rectal carcinoma in situ rectum in situ carcinoma severe dysplasia of rectum severe dysplasia of the rectum severe rectal dysplasia stage 0 carcinoma of rectum stage 0 carcinoma of the rectum stage 0 rectal cancer stage 0 rectal cancer aJCC v6 stage 0 rectal cancer aJCC v6 and v7 stage 0 rectal cancer aJCC v7 stage 0 rectal carcinoma stage 0 rectum carcinoma rectum carcinoma in situ MONDO:0004726 A multinodular intermediate fibroblastic neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells. liver inflammatory pseudotumor hepatic inflammatory myofibroblastic tumor liver inflammatory myofibroblastic tumor inflammatory pseudotumor of liver inflammatory pseudotumor of the liver liver inflammatory myofibroblastic tumor MONDO:0004727 A cancer that involves the oral opening. cancer of oral opening malignant neoplasm of oral opening malignant neoplasm of vestibule of mouth malignant oral opening neoplasm malignant tumor of vestibule of mouth oral opening cancer vestibule of mouth cancer MONDO:0004728 diabetic macular edema MONDO:0004729 Disorders affecting the motor function of the upper esophageal sphincter; lower esophageal sphincter; the esophagus body, or a combination of these parts. The failure of the sphincters to maintain a tonic pressure may result in gastric reflux of food and acid into the esophagus (gastroesophageal reflux). Other disorders include hypermotility (spastic disorders) and markedly increased amplitude in contraction (nutcracker esophagus). dyskinesia of oesophagus esophageal dysmotility esophageal motility disorder oesophageal dysmotility oesophageal motor disorder dyskinesia of esophagus MONDO:0004730 A term referring to disorders characterized by the disruption of normal speech. It includes stuttering, lisps, dysarthria and voice disorders. speech impediment or impairment speech disorder MONDO:0004731 A broad classification of disorders which includes 6 subtypes (primary central sleep apnea, central sleep apnea due to Cheyne-Stokes breathing pattern, central sleep apnea due to medical condition not Cheyne-Stokes, central sleep apnea due to high-altitude periodic breathing, central sleep apnea due to drug or substance and primary sleep apnea of infancy) that are each characterized by interruptions in breathing while asleep. It is caused by improper signaling from the brainstem to respiratory muscles and is triggered by either hypoventilation or hyperventilation. In adults, this disorder may arise following a stroke, congestive heart failure, trauma, infection or the use of narcotic medications. It is more common in older males and may present as a co-morbid condition to obesity. Clinical signs include snoring, insomnia or hypersomnia, difficulty concentrating and fatigue. Recurrent episodes of hypoxia/hypoxemia have long-term detrimental effects on cardiovascular health. central sleep apnea syndrome central sleep apnea, primary primary central sleep apnea secondary central sleep apnea Apneas, central Apneas, central sleep Breathings, central sleep-disordered alveolar hypoventilation, central alveolar hypoventilations, central apnea, central apnea, central sleep apnea, sleep, central breathing, central sleep-disordered central Apneas central alveolar hypoventilation central alveolar hypoventilation syndrome central apnea central sleep Apneas central sleep apnea central sleep apnea, secondary central sleep disordered breathing central sleep-disordered Breathings central sleep-disordered breathing hypoventilation, central alveolar hypoventilations, central alveolar ondine syndrome sleep Apneas, central sleep apnea, lethal central sleep disordered breathing, central sleep-disordered Breathings, central sleep-disordered breathing, central central sleep apnea syndrome MONDO:0004732 A carcinoma in situ involving a kidney. carcinoma in situ of kidney kidney in situ carcinoma stage 0 kidney carcinoma kidney carcinoma in situ MONDO:0004733 A primary or metastatic malignant neoplasm that affects the pyriform sinus. malignant neoplasm of pyriform fossa malignant neoplasm of pyriform sinus malignant neoplasm of the pyriform fossa malignant neoplasm of the pyriform sinus malignant pyriform fossa neoplasm malignant pyriform fossa tumor malignant pyriform sinus neoplasm malignant pyriform sinus tumor malignant tumor of pyriform fossa malignant tumor of pyriform sinus malignant tumor of the pyriform fossa malignant tumor of the pyriform sinus pyriform sinus cancer MONDO:0004736 An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria. inborn cellular amino acid metabolic process disorder inborn error of amino acid metabolism inborn error of cellular amino acid metabolic process inborn errors of amino acid metabolism inherited amino acid metabolic disorder rare inborn error of cellular amino acid metabolic process amino acid metabolic disorder amino acid metabolism, inborn errors inborn amino acid metabolism disorder inborn disorder of amino acid metabolism MONDO:0004737 An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems. homocystinuria (disease) homocystinuria homocystinuria (disease) CBS deficiency cystathionine beta synthase deficiency cystathionine synthase deficiency homocystinuria MONDO:0004739 A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body. disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia disorder of urea cycle metabolism inborn disorder of urea cycle metabolism and ammonia detoxification inborn urea cycle disorder urea cycle defect urea cycle disorders urea cycle metabolism disorder UCD disorder of urea cycle metabolism and ammonia detoxification urea cycle disorder MONDO:0004741 An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs. tyrosinemia MONDO:0004742 A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked. primary cerebellar degeneration MONDO:0004743 A serious metabolic condition caused by mutations in the MTHFR gene, medications, or nutritional deficiency. It results in increased levels of homocysteine in the blood. Patients with this condition are at an increased risk for recurrent blood clots formation and cardiovascular accidents. https://github.com/monarch-initiative/mondo/issues/3247 homocysteinemia hyperhomocysteinemia hyperhomocysteinemia https://rarediseases.info.nih.gov/diseases/8230/homocysteinemia MONDO:0004744 Preglaucoma borderline glaucoma MONDO:0004745 Persistent and usually painful erection that lasts for at least four hours in the absence of physical or psychological stimulation, which can be caused by hematologic disorders, including sickle cell disease and leukemia, spinal cord injuries, and medications. Mentulagra priapism MONDO:0004746 A myopathy that involves the extra-ocular muscle. extra-ocular muscle myopathy myopathy of extra-ocular muscle myopathy of extraocular muscles myopathy of extraocular muscle MONDO:0004747 A congenital abnormality consisting of one or more clefts (splits) in the upper lip, which may be accompanied by a cleft palate; it is the result of the failure of the embryonic parts of the lip to fuse. cleft lip (disease) cheiloschisis cleft lip cleft lip (disease) cleft lip, unilateral, complete complete unilateral cleft lip hare lip labium leporinum cleft lip MONDO:0004748 A disease involving the lip. disease of lip disease of lips disease or disorder of lip disorder of lip lip disease lip disease or disorder lip disorder lip disorder MONDO:0004749 A malignant neoplasm involving the myocardium. tumor of myocardium cancer of myocardium malignant myocardial neoplasm malignant myocardial tumor malignant myocardium neoplasm malignant neoplasm of myocardium malignant neoplasm of the myocardium malignant tumor of myocardium malignant tumor of the myocardium myocardium cancer myocardium cancer MONDO:0004750 A category of disorders characterized by an impairment in the development of an individual's language capabilities, which is in contrast to his/her non-verbal intellect. language disorder MONDO:0004751 Diseases of the bony orbit and contents except the eyeball. orbital disease Editor note: check this. MESH and DOID excludes eyeball which would make equivalent to adnexa disease of orbital part of eye adnexa MONDO:0004752 A rare neurofibroma that affects the heart. Cardiac neurofibroma heart neurofibroma neurofibroma of heart neurofibroma of the heart neurofibroma of the heart MONDO:0004753 May be ceded to HPO mechanical strabismus MONDO:0004754 Protrusion of the rectum through the anus. rectal prolapse (disease) procidentia, rectum rectal prolapse rectal prolapse (disease) rectal prolapse MONDO:0004755 Infection of ruminants with tapeworms of the genus Moniezia. monieziasis MONDO:0004756 A benign or malignant neoplasm that affects the nasal cavity. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. nasal cavity neoplasm nasal cavity neoplasm (disease) nasal cavity tumor neoplasm of nasal cavity neoplasm of the nasal cavity tumor of nasal cavity tumor of the nasal cavity nasal cavity neoplasm MONDO:0004757 Inflammation of the ethmoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties. chronic ethmoid sinusitis chronic ethmoidal sinusitis ethmoid sinusitis, chronic ethmoidal sinusitis - chronic chronic ethmoiditis chronic ethmoidal sinusitis MONDO:0004758 A localized defect in the visual field bordered by an area of normal vision. This occurs with a variety of eye diseases (e.g., retinal diseases and glaucoma); optic nerve diseases, and other conditions. scotoma (disease) blind spot area scotoma enlarged angioscotoma enlarged blind spot enlarged paracaecal scotoma generalized visual field contraction or constriction scotoma scotoma (disease) scotoma of blind spot area sector or arcuate visual field defects scotoma MONDO:0004759 zoophilia bestiality MONDO:0004760 urethral false passage MONDO:0004762 Taylor's syndrome congestion-fibrosis syndrome pelvic congestion syndrome Taylor syndrome MONDO:0004763 Spontaneous or traumatic separation of the layers of the carotid artery wall. It manifests with headache, neck pain, temporary vision loss, and/or ischemic stroke. dissection of carotid artery carotid artery dissection MONDO:0004764 fibular collateral ligament bursitis MONDO:0004765 An asthma that is triggered by factors not related to allergies such as anxiety, stress, exercise, cold air, dry air, hyperventilation, smoke, viruses, chemical irritants, autonomic imbalance, hormonal deficiencies and psychogenic influences. It is characterized by airway obstruction and inflammation that is at least partially reversible with medication. The symptoms include coughing, wheezing, shortness of breath or rapid breathing, and chest tightness. intrinsic asthma MONDO:0004766 An acute exacerbation of asthma, characterized by inadequate response to initial bronchodilators. asthma with status asthmaticus severe asthma attack status asthmaticus MONDO:0004767 An inflammatory disease involving a pathogenic inflammatory response in the seminal vesicle. gland, seminal vesicle inflammation of seminal vesicle seminal Sacs seminal vesicle seminal vesicle inflammation seminal vesicles seminal vesiculitis vesiculitis MONDO:0004768 Inflammation of both the cornea and the conjunctiva. keratoconjunctivitis MONDO:0004769 A nonspecific tumor-like inflammatory lesion in the orbit of the eye. It is usually composed of mature lymphocytes; plasma cells; macrophages; leukocytes with varying degrees of fibrosis. Orbital pseudotumors are often associated with inflammation of the extraocular muscles (orbital myositis) or inflammation of the lacrimal glands (dacryoadenitis). orbital myositis pseudotumor of orbit granuloma, plasma cell, orbital inflammatory pseudotumor of orbit inflammatory pseudotumor, orbital inflammatory pseudotumors, orbital orbital granuloma, plasma cell orbital inflammatory pseudotumor orbital inflammatory pseudotumors orbital pseudotumors plasma cell granuloma, orbital pseudotumor, inflammatory, orbital pseudotumor, orbital pseudotumor, orbital inflammatory pseudotumors, orbital Editor note: check relationship to orbotral granuloma orbital plasma cell granuloma MONDO:0004770 The anterior displacement of the eye within the orbit, giving a bulging appearance. exophthalmos (disease) exophthalmos exophthalmos (disease) proptosis exophthalmos MONDO:0004772 Posner-Schlossman syndrome Terrien-Viel syndrome glaucomatocyclitic crisis MONDO:0004773 An inflammation of the iris and the ciliary body iridocyclitis (disease) iridocyclitis iridocyclitis (disease) primary iridocyclitis iridocyclitis MONDO:0004774 An iridocyclitis (disease) caused by infection with Neisseria gonorrhoeae. Neisseria gonorrhoeae caused iridocyclitis (disease) Neisseria gonorrhoeae iridocyclitis (disease) gonococcal iridocyclitis MONDO:0004775 lens-induced iridocyclitis lens-induced iridocyclitis MONDO:0004777 An acute inflammatory process affecting the larynx. It is caused by bacteria, viruses, or vocal strain. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness. laryngitis laryngitis, acute acute laryngitis MONDO:0004778 A disorder involving inflammation of the epididymis and testes. epididymo-orchitis MONDO:0004779 Inflammation of the epididymis. Its clinical features include enlarged epididymis, a swollen scrotum; pain; pyuria; and fever. It is usually related to infections in the urinary tract, which likely spread to the epididymis through either the vas deferens or the lymphatics of the spermatic cord. epididymitis (disease) epididymal epididymis epididymitis epididymitis (disease) epididymitis MONDO:0004780 strictly posterior acute myocardial infarction MONDO:0004781 Necrosis of the myocardium, as a result of interruption of the blood supply to the area. It is characterized by a severe and rapid onset of symptoms that may include chest pain, often radiating to the left arm and left side of the neck, dyspnea, sweating, and palpitations. acute myocardial infarction (disease) myocardial infarction (disease), acute acute myocardial infarction MONDO:0004782 A disorder characterized by excretion of large amounts of urine, accompanied by excessive thirst. Causes include deficiency of antidiuretic hormone or failure of the kidneys to respond to antidiuretic hormone. It may also be drug-related. diabetes insipidus MONDO:0004784 A asthma with a basis in a pathological type I hypersensitivity reaction. allergic form of asthma extrinsic asthma with acute exacerbation extrinsic asthma with status asthmaticus atopic asthma allergic asthma MONDO:0004785 Inflammation of the eyelids near the eyelashes. eyelid inflammation inflammation of eyelid blepharitis MONDO:0004786 Cholangitis that is persistent and long-standing. cholangitis, chronic chronic cholangitis MONDO:0004787 A rare, benign, papillary neoplasm that arises from the cervix. It is characterized by the presence of a fibrovascular core covered by mucinous epithelial cells. cervical Muellerian papilloma cervical Mullerian papilloma cervical Müllerian papilloma cervical mullerian papilloma MONDO:0004788 A papilloma that arises from the squamous epithelium of the cervix. cervical squamous papilloma cervix squamous papilloma cervix uteri squamous papilloma squamous papilloma of cervix squamous papilloma of cervix uteri squamous papilloma of the cervix squamous papilloma of the cervix uteri squamous papilloma of the uterine cervix squamous papilloma of uterine cervix uterine cervix squamous papilloma cervix squamous papilloma MONDO:0004789 An acute or chronic inflammatory process affecting the biliary tract. biliary tract infection biliary tree inflammation cholangitis inflammation of biliary tree cholangitis MONDO:0004790 A reversible condition wherein large vacuoles of triglyceride fat accumulate in liver cells via the process of steatosis. fatty change of liver fatty liver hepatic lipidosis steatosis of liver Editor note: classified as inherited in DO fatty liver disease MONDO:0004792 A cancer that involves the UBERON:0016632. cancer of isthmus of fallopian tube isthmus of fallopian tube cancer malignant isthmus of fallopian tube neoplasm malignant neoplasm of isthmus of fallopian tube cancer of isthmus of fallopian tube MONDO:0004794 exposure keratoconjunctivitis lagophthalmic keratitis exposure keratitis MONDO:0004795 Inflammation of the anatomical structures of the outer ear and ear canal secondary to an infectious process. Bacterial etiology is most common, but fungal infection is also possible. Symptoms include erythema, edema, and pain. external Ear infection infectious otitis externa otitis externa outer Ear infection swimmer's Ear swimmer's ear otitis externa MONDO:0004796 Inflammation of the meninges of the brain and/or spinal cord caused by an infectious agent (viral, bacterial, or fungal). Symptoms include headache, fever, vomiting, neck stiffness, photophobia, confusion, and seizures. https://github.com/monarch-initiative/mondo/issues/5537 infectious meningitis infective meningitis meningitis infectious meningitis MONDO:0004797 A mononeuritis simplex that involves the hindlimb. hindlimb mononeuritis simplex mononeuritis simplex of hindlimb mononeuritis of lower limb MONDO:0004799 ulcerative blepharitis MONDO:0004800 Chronic form of dacryoadenitis. dacryoadenitis, chronic chronic dacryoadenitis MONDO:0004801 unilateral hypoactive labyrinth MONDO:0004802 A condition characterized by infiltration of the lung with eosinophils due to inflammation or other disease processes. Major eosinophilic lung diseases are the eosinophilic pneumonias caused by infections, allergens, or toxic agents. pulmonary eosinophilia MONDO:0004803 disseminated eosinophilic collagen disease MONDO:0004804 Inflammation and enlargement of the lacrimal gland. inflammation of lacrimal gland lacrimal gland inflammation dacryoadenitis MONDO:0004805 A disease involving leukocytes. disease of leukocyte disease or disorder of leukocyte disorder of leukocyte disorder, leukocyte disorders, leukocyte leukocyte disease leukocyte disease or disorder leukocyte disorder white blood cell disorder leukocyte disorder MONDO:0004806 Chronic inflammatory disorder of the lungs characterized by the presence of eosinophils in the interalveolar septa and alveolar spaces and peripheral blood eosinophilia. Chest x-rays reveal peripheral infiltrates. Approximately half of the patients have history of asthma or atopic disease. Signs and symptoms include fever, dyspnea, cough, and weight loss. Following treatment with corticosteroids, the eosinophilic infiltrates in the lungs disappear, resulting in dramatic clinical improvement. cryptogenic pulmonary eosinophilia eosinophilic pneumonia, chronic chronic eosinophilic pneumonia MONDO:0004808 benign mammary dysplasia benign dysplasia of breast Editor note: NCIT treats dysplasia as a finding. Also as distinct from neoplasia benign mammary dysplasia MONDO:0004810 Acute form of ethmoid sinusitis. acute ethmoid sinusitis acute ethmoidal sinusitis ethmoid sinusitis, acute ethmoidal sinus - acute acute ethmoiditis MONDO:0004811 simple chronic conjunctivitis MONDO:0004812 Acute form of dacryoadenitis. dacryoadenitis, acute acute dacryoadenitis MONDO:0004813 A pneumothorax in which air enters into the pleural cavity. tuberculous pneumothorax MONDO:0004815 A plasma cell neoplasm associated with osteosclerotic and fibrotic changes in the bone trabeculae. Often, the lymph nodes show changes resembling the plasma cell variant of Castleman disease. It is often part of POEMS syndrome which is characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes. osteosclerotic multiple myeloma osteosclerotic plasma cell myeloma osteosclerotic myeloma osteosclerotic plasma cell myeloma MONDO:0004816 A plasma cell neoplasm that is resistant to treatment. refractory plasma cell neoplasm refractory plasma cell neoplasm MONDO:0004817 A rare type of multiple myeloma in which the plasma cells synthesize but do not secrete immunoglobulins. As a result, none of the immunoglobulins appear out of the normal range. The symptoms are generally the same with those of immunoglobulin-secreting myeloma; however, the incidence of renal insufficiency is lower in non-secretory myeloma. The diagnosis can be missed because of the absence of monoclonal immunoglobulin in the serum or urine. non-secretory multiple myeloma non-secretory plasma cell myeloma non-functioning myeloma non-secreting myeloma non-secretory myeloma non-secretory plasma cell myeloma MONDO:0004819 indolent multiple myeloma indolent myeloma indolent plasma cell myeloma indolent plasma cell myeloma MONDO:0004820 A benign, usually encapsulated slow growing tumor of the peripheral nervous system composed of Schwann cells. It recurs infrequently and only rare cases associated with malignant transformation have been reported. peripheral nerve schwannoma peripheral nerve schwannoma MONDO:0004821 A non-neoplastic or neoplastic disorder that affects the nasopharynx. Representative examples include nasopharyngitis, angiofibroma, and carcinoma. disease of nasopharynx disease or disorder of nasopharynx disorder of nasopharynx nasopharyngeal disorder nasopharynx disease nasopharynx disease or disorder disorder of postnasal space nasopharyngeal disorder MONDO:0004822 Segmental, irreversible dilation of the bronchial tree resulting in the accumulation of secretions which leads to obstruction. The most common cause is bacterial infection. Polynesian bronchiectasis bronchiectasis MONDO:0004824 A fungal infection by any of the Candida species in a newborn infant up to 28 days old. neonatal Candida infection neonatal Monilia infection neonatal candida infection neonatal moniliasis neonatal candidiasis MONDO:0004826 A concretion in the urethra. urethra urolithiasis urethral Stone urolithiasis of urethra urethral calculus MONDO:0004827 A rare neoplasm arising from the distal third of the esophagus. Morphologically, it is characterized by the presence of fibrovascular cores covered by mature stratified squamous epithelium. Progression to squamous cell carcinoma is extremely rare. esophageal squamous papilloma esophagus squamous cell papilloma esophagus squamous papilloma squamous cell papilloma of esophagus squamous cell papilloma of the esophagus esophagus squamous cell papilloma MONDO:0004828 A urolithiasis that involves the lower urinary tract. lower urinary tract urolithiasis urolithiasis of lower urinary tract lower urinary tract calculus MONDO:0004829 Metastatic signet-ring cell carcinoma to the ovary. The primary site is the gastrointestinal tract or breast. Krukenberg neoplasm Krukenberg tumor Krukenberg’s tumor Krukenberg carcinoma MONDO:0004830 Inflammation process in fascia. fasciitis (disease) Fascitis fascia inflammation fasciitis fasciitis (disease) inflammation of fascia fasciitis MONDO:0004831 A rapidly growing, poorly circumscribed, mass-forming proliferation that arises from the subcutaneous tissues. It is characterized by the presence of spindle-shaped fibroblasts, round ganglion-like cells, myxoid to collagenous stroma formation, and high mitotic activity. It recurs only rarely following local excision and does not metastasize. proliferative fasciitis MONDO:0004832 A benign smooth muscle neoplasm arising from the lower part of the esophagus. It is the most common mesenchymal neoplasm of the esophagus. Dysphagia is a frequent clinical symptom. esophageal leiomyoma esophagus leiomyoma leiomyoma of esophagus leiomyoma of the esophagus esophagus leiomyoma MONDO:0004833 Inflammation of the thick tissue on the bottom of the foot (plantar fascia) causing heel pain. The plantar fascia (also called plantar aponeurosis) are bands of fibrous tissue extending from the calcaneal tuberosity to the toes. The etiology of plantar fasciitis remains controversial but is likely to involve a biomechanical imbalance. Though often presenting along with heel spur, they do not appear to be causally related. plantar fasciitis MONDO:0004834 A reactive, painless lesion which is characterized by a pseudosarcomatous proliferation of fibroblasts and myofibroblasts usually in the deep subcutaneous tissue. It occurs mainly around the limb girdles, sacral region, and greater trochanter. It affects mainly elderly patients and sometimes is associated with physical immobility. Local excision is usually curative. atypical decubital fibroplasia ischemic fasciitis MONDO:0004835 Necrotizing fasciitis is a serious infection of the skin, the tissue just beneath the skin (subcutaneous tissue), and the tissue that covers internal organs (fascia). Necrotizing fasciitis can be caused by several different types of bacteria, and the infection can arise suddenly and spread quickly. Early signs include flu-like symptoms and redness and pain around the infection site. A prompt diagnosis and treatment are essential.If the infection is not treated promptly, it can lead to multiple organ failure and death. Treatment typically includes intravenous (IV) antibiotics and surgery to remove infected and dead tissue. necrotizing fasciitis https://rarediseases.info.nih.gov/diseases/6454/necrotizing-fasciitis MONDO:0004836 A rare self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the vessels. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity. intravascular nodular fasciitis intravascular pseudosarcomatous fasciitis intravascular fasciitis MONDO:0004837 A non-metastasizing encapsulated neoplasm arising from nerves in the esophagus. Morphologically, it is characterized by the presence of fibroblasts and Schwann cells. esophageal neurofibroma esophagus neurofibroma neurofibroma of esophagus neurofibroma of the esophagus neurofibroma of the esophagus MONDO:0004838 postural albuminuria orthostatic proteinuria MONDO:0004840 https://github.com/monarch-initiative/mondo/issues/4069 non-congenital cyst of kidney MONDO:0004841 Global enlargement of the renal parenchyma in one or both kidneys. hypertrophy of the kidney renal Hypertrophy kidney hypertrophy MONDO:0004842 Inflammation of the oral mucosa due to local or systemic factors. inflammation of mouth mucosa mouth mucosa inflammation mucositis oral oral mucositis stomatitis MONDO:0004843 Involuntary movements of the eyeballs. The presence or absence of nystagmus is often used in the diagnosis of a variety of neurological and visual disorders. pathologic nystagmus MONDO:0004844 A white patch or plaque on the oral mucosa that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition. leukokeratosis of oral mucosa leukoplakia of oral mucosa leukoplakia of the oral mucosa oral keratoses oral keratosis oral leukoplakia oral mucosa leukoplakia MONDO:0004845 A recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring. aphtha aphthous ulceration oral aphthae oral ulcer canker sore oral aphthous ulcer aphthous stomatitis https://rarediseases.info.nih.gov/diseases/5834/aphthous-stomatitis MONDO:0004846 Vaginal bleeding preceding the 20th week of gestation. placental abruption (disease) Abruptio placentae, premature separation of placenta abruptio placenta abruptio placentae placental abruption placental abruption (disease) premature separation of placenta placental abruption MONDO:0004847 A cataract with no obvious cause occurring in persons over 50 years old. senile cataract MONDO:0004848 Inflammation of the mouth mucosa associated with the presence of ulcers. ulcerative stomatitis ulcerative stomatitis MONDO:0004849 A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing. emphysema emphysema, pulmonary pulmonary emphysema MONDO:0004851 toxic myocarditis MONDO:0004852 gonococcal keratitis MONDO:0004853 gonococcal endophthalmia MONDO:0004854 Inflammation of the conjunctiva in a newborn due to chemical or infectious causes. Aseptic conjunctivitis is often related to the use of prophylactic medications for infectious conjunctivitis. Septic conjunctivitis is related to perinatal exposure to microorganisms. gonococcal conjunctivitis (neonatorum) neonatal conjunctivitis gonococcal ophthalmia neonatorum ophthalmia neonatorum MONDO:0004855 Inflammation of the synovial lining of a tendon sheath. Causes include trauma, tendon stress, bacterial disease (gonorrhea, tuberculosis), rheumatic disease, and gout. Common sites are the hand, wrist, shoulder capsule, hip capsule, hamstring muscles, and Achilles tendon. The tendon sheaths become inflamed and painful, and accumulate fluid. Joint mobility is usually reduced. Inflammation of tendon sheath Tenosynovitides inflammation of tendon sheath tendon sheath inflammation tenosynovitis MONDO:0004856 rosacea conjunctivitis MONDO:0004857 Inflammation of a tendon, usually resulting from an overuse injury. It is characterized by swelling of the tendon, tenderness around the inflamed tendon, and pain while moving the affected area of the body. https://github.com/monarch-initiative/mondo/issues/5537 inflammation of tendon tendon inflammation tendonitis tendinitis MONDO:0004858 Blockage of the normal flow of the contents of the gallbladder. obstruction of gallbladder occlusion of gallbladder MONDO:0004859 hydrops of gallbladder MONDO:0004860 A disease involving the vitreous humor. disease of vitreous humor disease or disorder of vitreous humor disorder of vitreous humor vitreous humor disease vitreous humor disease or disorder vitreous disorder MONDO:0004861 ophthalmia nodosa MONDO:0004862 https://github.com/monarch-initiative/mondo/issues/4592 vitreous abscess MONDO:0004863 purulent endophthalmitis MONDO:0004864 A blue drum syndrome caused by an allergen. acute allergic mucoid otitis media MONDO:0004865 A acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color. acute mucoid otitis media blue drum syndrome acute non-suppurative otitis media - mucoid blue drum syndrome MONDO:0004866 A disease involving the pharyngotympanic tube. disease of pharyngotympanic tube disease or disorder of pharyngotympanic tube disorder of pharyngotympanic tube eustachian tube disorder pharyngotympanic tube disease pharyngotympanic tube disease or disorder auditory tube disorder disease of eustachian tube disorder of eustachian tube eustachian tube disorder MONDO:0004867 A disease involving the upper respiratory tract. disease of upper respiratory tract disease or disorder of upper respiratory tract disorder of upper respiratory tract upper respiratory tract disease upper respiratory tract disease or disorder upper respiratory tract disorder MONDO:0004868 A disease involving the biliary tree. biliary tree disease biliary tree disease or disorder disease of biliary tree disease or disorder of biliary tree disorder of biliary tree biliary tract disorder MONDO:0004869 A varicose disease that involves the pelvic region of trunk. pelvic region of trunk varicose disease varicose disease of pelvic region of trunk pelvic varices MONDO:0004871 Thrombosed external hemorrhoids external thrombosed haemorrhoids perianal hematoma MONDO:0004872 Dilated veins in the anal canal. Hemorrhoids hemorrhoid hemorrhoidal disease hemorrhoid MONDO:0004873 A hemorrhoid which originates above the dentate line. internal hemorrhoid internal hemorrhoid MONDO:0004874 ganglion or cyst of synovium/tendon/bursa MONDO:0004875 Cholecystitis that is characterized by nodules containing lipid. CX xanthogranulomatous cholecystitis https://rarediseases.info.nih.gov/diseases/9451/xanthogranulomatous-cholecystitis MONDO:0004876 Prolonged dysfunction of the myocardium after a brief episode of severe ischemia, with gradual return of contractile activity. myocardial stunning MONDO:0004877 transient neonatal thrombocytopenia MONDO:0004878 female breast upper-outer quadrant cancer MONDO:0004879 senile atrophy of choroid MONDO:0004880 Any disease in which the causes of the disease is a perturbation of the lower digestive tract leading to its dysfunction. disease of lower digestive tract lower digestive tract disease bowel dysfunction MONDO:0004881 A form of myositis that is characterized by the formation of connective tissue within the muscle. interstitial myositis myositis fibrosa MONDO:0004882 A angioid streaks that involves the optic choroid. angioid streaks of optic choroid optic choroid angioid streaks angioid streaks of choroid MONDO:0004883 hereditary choroidal atrophy MONDO:0004884 A neurodegenerative disease that involves the eye. degenerative disorder of eye eye neurodegenerative disease eyeball of camera-type eye neurodegenerative disease neurodegenerative disease of eyeball of camera-type eye degenerative disorder of globe eye degenerative disorder MONDO:0004885 A neurodegenerative disease that involves the optic choroid. choroidal degenerations neurodegenerative disease of optic choroid optic choroid neurodegenerative disease choroidal sclerosis MONDO:0004886 diffuse secondary choroid atrophy MONDO:0004888 partial circumpapillary choroid dystrophy MONDO:0004889 choroidal dystrophy, serpiginous total central choroidal atrophy central gyrate choroidal dystrophy helicoid choroid dystrophy total central choroid atrophy total central dystrophy of choroid total central choroidal atrophy MONDO:0004890 choroidal dystrophy, central areolar partial central choroid dystrophy circinate choroidal dystrophy partial central dystrophy of choroid partial central choroid dystrophy MONDO:0004891 A refractive error in which rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back. It is also called farsightedness because the near point is more distant than it is in emmetropia with an equal amplitude of accommodation. (Dorland, 27th ed) Far-sightedness hypermetropia hyperopia MONDO:0004892 A defect in the focusing of light on the retina as in astigmatism, myopia, or hyperopia. refractive error MONDO:0004893 Vertical strabismus in which there is permanent upward deviation of the visual axis of one eye. hypertropia MONDO:0004894 cyclotropia MONDO:0004895 accommodative esotropia MONDO:0004896 A form of strabismus in which one or both eyes are deviated medially. convergence in manifest squint crossed eyes internal strabismus esotropia https://rarediseases.info.nih.gov/diseases/8235/esotropia MONDO:0004897 Vertical strabismus in which there is permanent downward deviation of the visual axis of one eye. downward ocular deviation hypotropia sunset sign hypotropia MONDO:0004898 circumpapillary dystrophy of choroid, total total circumpapillary dystrophy of choroid MONDO:0004899 microstrabismus microtropia monofixation syndrome MONDO:0004900 peripheral vertigo MONDO:0004901 Syndromes which feature dyskinesias as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions. oro-facial dyskinesia lingual-facial-buccal dyskinesia MONDO:0004902 interstitial keratitis MONDO:0004903 deep keratitis MONDO:0004904 toxic maculopathy of retina toxic maculopathy MONDO:0004905 Inherited or acquired disorders of sugar metabolism. Deficiencies of lactase, maltase or sucrase-isomaltase usually occur irreversibly and independent of one another. Congenital deficiencies are rare whereas acquired deficiencies are more common and may be seen following intestinal mucosal brush-border injury. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following dietary intake of lactose, maltose or sucrose. The clinical course leads to malabsorption of disaccharides which has implications for normal growth and development if manifested at an early age. intestinal disaccharidase deficiency and disaccharide malabsorption intestinal disaccharide deficiency and disaccharide malabsorption intestinal disaccharidase deficiency MONDO:0004907 Hair loss usually from the scalp. It may result in bald spots or spread to the entire scalp or the entire epidermis. It may be androgenetic or caused by chemotherapeutic agents, compulsive hair pulling, autoimmune disorders or congenital conditions. alopecia hair loss loss Of hair alopecia areata alopecia MONDO:0004909 urethral gland abscess MONDO:0004910 A fairly common and often benign valvular heart disorder characterized by redundancy or hooding of mitral valve leaflets so that they prolapse into the left atrium, often causing mitral regurgitation. It is often a symptomless condition but may be marked by varied symptoms (e.g. chest pain, fatigue, dizziness, dyspnea, or palpitations) leading in some cases to endocarditis or ventricular tachycardia. mitral valve prolapse (disease) barlow's syndrome floppy mitral valve mitral valve prolapse mitral valve prolapse (disease) mitral valve prolapse syndrome prolapse, mitral valve valve, prolapse Of mitral mitral leaflet syndrome mitral valve prolapse, myxomatous myxomatous mitral valve prolapse systolic click-murmur syndrome mitral valve prolapse MONDO:0004911 A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries. cardiovascular syphilis MONDO:0004913 alternating esotropia MONDO:0004914 A syndromic disease that involves the median arcuate ligament. https://github.com/monarch-initiative/mondo/issues/3691 Harjola-Marable syndrome Marable's syndrome celiac artery compression syndrome celiac artery stenosis from compression by median arcuate ligament of diaphragm median arcuate ligament syndrome median arcuate ligament syndromic disease syndromic disease of median arcuate ligament celiac access syndrome celiac artery stenosis from compression by median arcuate ligament of diaphragm MONDO:0004917 A hordeolum that results from infection of a meibomian gland. hordeolum of tarsal gland internal hordeolum tarsal gland hordeolum hordeolum internum infected chalazion infected cyst of meibomian gland infected meibomian cyst infection of meibomian gland meibomian adenitis internal hordeolum MONDO:0004918 central corneal ulcer MONDO:0004919 infected hydrocele MONDO:0004920 hydrocele MONDO:0004922 A disorder characterized by an impairment in the development of an individual's motor coordination skills; this impairment in motor development is not due to a medical condition. clumsy child syndrome development coordination disorder developmental dyspraxia developmental coordination disorder MONDO:0004923 chronic inflammation of lacrimal passage MONDO:0004924 Chronic form of actinomycosis. actinomycosis, chronic chronic actinomycosis chronic canaliculitis MONDO:0004925 Chronic form of dacryocystitis. dacryocystitis, chronic chronic dacryocystitis MONDO:0004926 Inflammation of the lacrimal sac. Dacryoadenitides Dacryocystitides inflammation of lacrimal sac lacrimal sac inflammation dacryoadenitis dacryocystitis MONDO:0004927 A congenital or acquired mucocele that develops in the lacrimal sac. It is usually the result of nasolacrimal duct abnormalities or obstruction. lacrimal mucocele dacryocystocele MONDO:0004928 Any disorder of the lymph nodes. disease of lymph node disease or disorder of lymph node disorder of lymph node lymph node disease lymph node disease or disorder lymph node disorder lymph node disorder MONDO:0004929 constant exophthalmos MONDO:0004930 corticosteroid-induced glaucoma steroid-induced glaucoma MONDO:0004931 residual stage corticosteroid-induced glaucoma MONDO:0004932 null cell acute lymphoblastic leukemia null-cell leukemia MONDO:0004933 Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis. HLHS prototype_pattern hypoplastic left heart syndrome MONDO:0004934 Inflammation of the periosteum. The condition is generally chronic, and is marked by tenderness and swelling of the bone and an aching pain. Acute periostitis is due to infection, is characterized by diffuse suppuration, severe pain, and constitutional symptoms, and usually results in necrosis. (Dorland, 27th ed) periostitis (disease) inflammation of periosteum periosteum periosteum inflammation periostitis periostitis (disease) periostitis MONDO:0004936 A complication of obstetric labor in which the corpus of the uterus is forced completely or partially through the uterine cervix. This can occur during the late stages of labor and is associated with immediate postpartum hemorrhage. uterine inversion MONDO:0004937 hypervitaminosis type D hypervitaminosis D MONDO:0004938 The psychological or physiological need to take a substance in order to experience its effects or to avoid the effects of its absence. dependence substance dependence MONDO:0004939 A drug dependence for a hallucinogenic substance. hallucinogen dependence MONDO:0004940 acute female pelvic peritonitis MONDO:0004941 A complex systemic syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart. Diagnostic features generally include eosinophilia, myalgia severe enough to limit usual activities of daily living, and the absence of coexisting infectious, autoimmune or other conditions that may induce eosinophilia. Biopsy of affected tissue reveals a microangiopathy associated with diffuse inflammation involving connective tissue. (From Spitzer et al., J Rheumatol Suppl 1996 Oct;46:73-9; Blackburn wd, Semin Arthritis Rheum 1997 Jun;26(6):788-93) eosinophilia myalgia syndrome EMS L-tryptophan induced EMS severe muscle pain and abnormally high eosinophils syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart eosinophilia-myalgia syndrome https://rarediseases.info.nih.gov/diseases/6345/eosinophilia-myalgia-syndrome MONDO:0004942 A lymphoma that arises from the structures of the orbit. Representative examples include mucosa-associated lymphoid tissue lymphoma, follicular lymphoma, and diffuse large B-cell lymphoma. lymphoma of orbit lymphoma of the orbit primary orbit lymphoma orbital lymphoma primary orbital lymphoma orbit lymphoma MONDO:0004943 A malignant soft tissue neoplasm that arises from the structures of the orbit. The majority of the cases are rhabdomyosarcomas. orbit of skull sarcoma orbital sarcoma sarcoma of orbit sarcoma of orbit of skull sarcoma of the orbit orbit sarcoma MONDO:0004944 Infection of the brain or spinal cord by Treponema pallidum. It occurs many years following the original infection which remained untreated. Signs and symptoms include abnormal gait, blindness, depression, paralysis, seizures and dementia. late neurosyphilis neurosyphilis tertiary neurosyphilis neurosyphilis MONDO:0004946 Abnormally low level of glucose in the blood. blood glucose, Low glucose, Low blood hypoglycaemia low blood glucose hypoglycemia MONDO:0004947 A neoplasm of lymphoblasts committed to the B-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called B acute lymphoblastic leukemia. When it involves nodal or extranodal sites, it is called B lymphoblastic lymphoma. (WHO, 2001) B lymphoblastic leukemia/lymphoma precursor B lymphoblastic leukemia/lymphoma precursor B-lymphoblastic lymphoma/leukemia precursor B lymphoblastic lymphoma/leukemia B-cell acute lymphoblastic leukemia MONDO:0004948 B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma, and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia. The clinical course is extremely heterogeneous with survival ranging from a few months to several decades. B cell CLL B cell chronic lymphocytic leukemia B cell lymphocytic leukemia B-CLL B-cell CLL B-cell chronic lymphocytic leukemia B-cell chronic lymphogenous leukemia B-cell chronic lymphoid leukemia B-cell lymphocytic leukemia BCLL CLL chronic B-cell lymphocytic leukemia chronic lymphatic leukemia chronic lymphocytic leukemia chronic lymphocytic leukemia (CLL) chronic lymphogenous leukemia hematopoeitic - chronic lymphocytic leukemia (CLL) lymphoplasmacytic leukemia leukemia, chronic LYMPHOCYTIC leukemia, chronic lymphatic leukemia, lymphocytic, chronic small lymphocytic lymphoma B-cell chronic lymphocytic leukemia MONDO:0004949 A neoplasm of follicle centre B cells which has at least a partial follicular pattern. Follicular lymphomas comprise about 35% of adult non-Hodgkin lymphomas in the U.S. and 22% worldwide. Most patients have widespread disease at diagnosis. Morphologically, follicular lymphomas are classified as Grade 1, Grade 2, and Grade 3, depending on the percentage of the large lymphocytes present. The vast majority of cases (70-95%) express the BCL-2 rearrangement [t(14;18)]. Histological grade correlates with prognosis. Grades 1 and 2 follicular lymphomas are indolent and grade 3 is more aggressive (adapted from WHO, 2001). mature B-cell lymphocytic neoplasm mature B-cell neoplasm mature B-cell neoplasms Editor note: is a non-hodgkin in ONCOTREE neoplasm of mature B-cells MONDO:0004950 A carcinoma that arises from epithelial cells of the stomach. cancer of stomach cancer of the stomach gastric (stomach) cancer gastric cancer gastric cancer, NOS stomach cancer carcinoma of stomach carcinoma of the stomach gastric carcinoma stomach carcinoma Ca fundus - stomach cancer of fundus of stomach fundus of stomach cancer gastric fundus cancer malignant fundus of stomach neoplasm malignant neoplasm of fundus of stomach malignant tumor of fundus of stomach gastric carcinoma MONDO:0004951 The type species of lentivirus and the etiologic agent of acquired immunodeficiency syndrome (AIDS). It is characterized by its cytopathic effect and affinity for the T4-lymphocyte. https://github.com/monarch-initiative/mondo/issues/4521 AIDS, delayed/rapid progression to AIDS, rapid progression to AIDS, resistance to AIDS, slow progression to HIV infection, resistance to HIV type 1, susceptibility to HIV-1 disease, delayed progression of HIV-1 disease, rapid progression of HIV-1 viremia, susceptibility to HIV/AIDS, susceptibility to HIV1 infection, resistance to HIV1, resistance to rapid progression to AIDS from HIV1 infection AIDS, progression to HIV-1, resistance to HIV-1, susceptibility to acquired immunodeficiency syndrome, progression to human immunodeficiency virus type 1, resistance to human immunodeficiency virus type 1, susceptibility to susceptibility to HIV infection MONDO:0004952 Hodgkin lymphoma (HL) is a heterogeneous group of malignant lymphoid neoplasms of B-cell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases. There are two distinct subtypes: nodular lymphocyte predominant Hodgkin lymphoma and classical Hodgkin lymphoma. Hodgkin lymphoma involves primarily lymph nodes. HL Hodgkin disease Hodgkin lymphoma Hodgkin's disease Hodgkin's lymphoma Hodgkins lymphoma stage I subdiaphragmatic Hodgkin lymphoma stage II subdiaphragmatic Hodgkin lymphoma Hodgkin's sarcoma lymphoma, Hodgkin's Hodgkins lymphoma MONDO:0004953 The most common type of invasive breast carcinoma, accounting for approximately 70% of breast carcinomas. The gross appearance is usually typical with an irregular stellate outline. Microscopically, randomly arranged epithelial elements are seen. When large sheets of malignant cells are present, necrosis may be seen. With adequate tissue sampling, in situ carcinoma can be demonstrated in association with the infiltrating carcinoma. The in situ component is nearly always ductal but occasionally may be lobular or both. ductal adenocarcinoma infiltrating ductal adenocarcinoma infiltrating ductal breast carcinoma infiltrating ductal carcinoma infiltrating ductal carcinoma of breast infiltrating ductal carcinoma of the breast invasive ductal adenocarcinoma invasive ductal breast carcinoma invasive ductal carcinoma invasive ductal carcinoma of breast invasive ductal carcinoma of the breast invasive ductal carcinoma, NST invasive ductal carcinoma, No specific type breast invasive ductal carcinoma invasive ductal breast carcinoma MONDO:0004956 A carcinoma that arises from the prostate gland and has spread to other anatomic sites. metastatic prostate cancer metastatic prostate carcinoma prostate cancer metastatic prostate carcinoma metastatic metastatic prostate carcinoma MONDO:0004957 An invasive adenocarcinoma composed of malignant glandular cells which contain intracytoplasmic mucin. Often, the infiltrating glandular structures are associated with mucoid stromal formation. It may arise from the large and small intestine, appendix, stomach, lung, ovary, breast, corpus uteri, cervix, vagina, and salivary gland. adenocarcinoma, mucinous, malignant colloid adenocarcinoma colloid carcinoma gelatinous adenocarcinoma gelatinous carcinoma mucin-producing adenocarcinoma mucin-producing adenocarcinoma (morphologic abnormality) mucin-secreting adenocarcinoma mucin-secreting carcinoma mucinous adenocarcinoma mucinous carcinoma mucinuos carcinoma mucoid adenocarcinoma mucoid carcinoma mucous adenocarcinoma mucous carcinoma pseudomyxoma peritonei with unknown primary site CEMU mucinous adenocarcinoma MONDO:0004958 A squamous cell carcinoma arising from the oral cavity. It affects predominantly adults in their fifth and sixth decades of life and is associated with alcohol and tobacco use. Human papillomavirus is present in approximately half of the cases. It is characterized by a tendency to metastasize early to the lymph nodes. When the tumor is small, patients are often asymptomatic. Physical examination may reveal erythematous or white lesions or plaques. The majority of patients present with signs and symptoms of locally advanced disease including mucosal ulceration, pain, difficulty with speaking, chewing, and swallowing, bleeding, weight loss, and neck swelling. Patients may also present with swollen neck lymph nodes without any symptoms from the oropharyngeal tumor. The most significant prognostic factors are the size of the tumor and the lymph nodes status. mouth scc mouth squamous cell carcinoma oral cavity scc oral cavity squamous cell cancer oral cavity squamous cell carcinoma scc of mouth scc of oral cavity scc of the mouth scc of the oral cavity squamous cell carcinoma of mouth squamous cell carcinoma of oral cavity squamous cell carcinoma of the mouth squamous cell carcinoma of the oral cavity OCSC oral squamous cell carcinoma oral cavity squamous cell carcinoma https://rarediseases.info.nih.gov/diseases/7263/oral-squamous-cell-carcinoma MONDO:0004959 A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance. plasma cell dyscrasia plasma cell neoplasm plasma cell tumor plasma cell tumor, malignant plasma cell tumour plasmacytic neoplasm plasmacytic tumor plasmacytic tumour plasma cell disorder See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/39 plasma cell neoplasm MONDO:0004960 A condition characterized by the abnormal presence of monoclonal immunoglobulins in the blood or urine. monoclonal gammopathy MONDO:0004961 Endometrial cancer is a cancer that arises from the endometrium (the lining of the uterus or womb).It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage I, the cancer is only growing in the body of the uterus. It may also be growing into the glands of the cervix, but is not growing into the supporting connective tissue of the cervix. stage I endometrioid carcinoma MONDO:0004962 Endometrial carcinoma is a carcinoma that arises from the endometrium (the lining of the uterus or womb). It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage II the cancer has spread from the body of the uterus and is growing into the supporting connective tissue of the cervix (called the cervical stroma). The cancer has spread into connective tissue of the cervix, but has not spread outside the uterus. stage II endometrioid carcinoma MONDO:0004963 Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. (WHO, 2001) acute T cell leukemia T acute lymphoblastic leukemia T-ALL T-cell ALL T-cell acute lymphoblastic leukemia T-cell acute lymphocytic leukemia T-cell type acute leukemia acute T cell lymphoblastic leukemia acute T cell lymphocytic leukemia acute T-cell leukemia acute T-cell lymphoblastic leukemia acute T-cell lymphocytic leukemia precursor T-lymphoblastic leukemia precursor T-lymphoblastic leukemia (T-cell ALL) T-cell acute lymphoblastic leukemia MONDO:0004964 Aggressive nodal or extranodal mature (peripheral) T-cell lymphomas that do not belong to the better defined entities of the remainder of mature T-cell lymphomas. This category includes the following variants: lymphoepithelioid cell variant (Lennert's lymphoma), follicular variant, and T-zone variant. peripheral T-cell lymphoma, not otherwise specified PTCL peripheral T-cell lymphoma, not otherwise specified MONDO:0004965 A carcinoma that arises from epithelial cells of the acinar cell acinar adenocarcinoma acinar carcinoma acinar cell adenocarcinoma acinar cell carcinoma acinar cell carcinoma (morphologic abnormality) acinic cell adenocarcinoma acinic cell carcinoma carcinoma of acinar cell carcinoma, acinar cell, malignant ACCC acinic cell tumor acinar cell carcinoma MONDO:0004966 Inflammation of the stomach. gastritis (disease) gastritis gastritis (disease) inflammation of stomach stomach inflammation acute gastric mucosal erosion erosive gastritis erosive gastropathy gastritis MONDO:0004967 Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the acute B lymphoblastic leukemia and acute T lymphoblastic leukemia. acute lymphoblastic leukemia (disease) lymphoblastic leukemia ALL ALL - acute lymphocytic leukemia acute lymphoblastic leukemia acute lymphoblastic leukemia (ALL) acute lymphoblastic leukemia (disease) acute lymphoblastic leukemia/lymphoma acute lymphocytic leukaemia acute lymphocytic leukemia acute lymphocytic leukemias acute lymphogenous leukemia acute lymphoid leukemia leukemia, lymphoblastic, malignant lymphoblastic leukemia, acute precursor Lymphoblasic leukemia precursor cell lymphoblastic leukemia precursor lymphoblastic leukemia acute lymphoblastic leukemia MONDO:0004969 Acute quadriplegic myopathy (AQM) is a specific acquired myopathy in ICU patients. Patients with AQM are characterized by severe muscle weakness and atrophy of spinal nerve innervated limb and trunk muscles, while cranial nerve innervated craniofacial muscles, sensory and cognitive functions are spared or less affected. The muscle weakness is associated with altered muscle membrane properties and a preferential loss of the motor protein myosin and myosin-associated thick filament proteins. Prolonged mechanical ventilation, muscle unloading, postsynaptic block of neuromuscular transmission, sepsis and systemic corticosteroid hormone treatment have been suggested as important triggering factors in AQM. acute quadriplegic myopathy MONDO:0004970 A common cancer characterized by the presence of malignant glandular cells. Morphologically, adenocarcinomas are classified according to the growth pattern (e.g., papillary, alveolar) or according to the secreting product (e.g., mucinous, serous). Representative examples of adenocarcinoma are ductal and lobular breast carcinoma, lung adenocarcinoma, renal cell carcinoma, hepatocellular carcinoma (hepatoma), colon adenocarcinoma, and prostate adenocarcinoma. adenocarcinoma adenocarcinoma NOS (morphologic abnormality) adenocarcinoma, malignant adenocarcinoma, no subtype (morphologic abnormality) adenocarcinomas ADNOS adenocarcinoma MONDO:0004971 A malignant tumor arising from the epithelial cells. Microscopically, the neoplastic epithelial cells form cylindrical spatial configurations (cribriform or classic type of adenoid cystic carcinoma), cordlike structures (tubular type of adenoid cystic carcinoma), or solid structures (basaloid variant of adenoid cystic carcinoma). Adenoid cystic carcinomas mostly occur in the salivary glands. Other primary sites of involvement include the lacrimal gland, the larynx, and the lungs. Adenoid cystic carcinomas spread along nerve sheaths, resulting in severe pain, and they tend to recur. Lymph node metastases are unusual; hematogenous tumor spread is characteristic. adenocystic carcinoma adenoid cystic cancer adenoid cystic carcinoma cylindroid adenocarcinoma cribriform carcinoma cylindroma adenoid cystic carcinoma MONDO:0004972 A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract. acinic cell adenoma adenoma adenomas acinar cell adenoma acinar cell adenoma (morphologic abnormality) adenoma, benign Editor note: check status re benign adenoma MONDO:0004973 An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells. adenosquamous cell lung carcinoma adenosquamous lung cancer adenosquamous lung carcinoma lung adenosquamous carcinoma adenosquamous lung carcinoma MONDO:0004974 A benign or malignant neuroendocrine neoplasm of the sympathetic nervous system that secretes catecholamines. It arises from the chromaffin cells of the adrenal medulla. Clinical presentation includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor. Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen. Other growth patterns including trabecular pattern may also be present. pheochromocytoma Intraadrenal paraganglioma PCC adrenal gland Chromaffinoma adrenal gland chromaffin paraganglioma adrenal gland paraganglioma adrenal gland pheochromocytoma adrenal medullary paraganglioma adrenal medullary pheochromocytoma adrenal pheochromocytoma chromaffin paraganglioma of the adrenal gland pheochromocytoma (adrenal) adrenal gland pheochromocytoma MONDO:0004975 A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language. https://github.com/monarch-initiative/mondo/issues/4013 AD Alzheimer dementia Alzheimer disease Alzheimer's dementia Alzheimer's disease Alzheimers dementia Alzheimers disease presenile and senile dementia Alzheimer disease, familial Alzheimer disease MONDO:0004976 Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. ALS Charcot disease Lou Gehrig disease Lou Gehrig's disease amyotrophic lateral sclerosis motor neuron disease, bulbar amyotrophic lateral sclerosis MONDO:0004977 A mature T-cell non-Hodgkin lymphoma, characterized by systemic disease and a polymorphous infiltrate involving lymph nodes and extranodal sites. The clinical course is typically aggressive. AILD AILT T-cell lymphoma, AILD type angioimmunoblastic T-cell lymphoma angioimmunoblastic lymphadenopathy angioimmunoblastic lymphadenopathy type T-cell lymphoma angioimmunoblastic lymphadenopathy with Dysproteinemia immunoblastic lymphadenopathy lymphogranulomatosis X AITL angioimmunoblastic T-cell lymphoma https://rarediseases.info.nih.gov/diseases/11973/angioimmunoblastic-t-cell-lymphoma MONDO:0004979 A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety. bronchial hyperreactivity chronic obstructive asthma chronic obstructive asthma with acute exacerbation chronic obstructive asthma with status asthmaticus exercise induced asthma exercise-induced asthma asthma MONDO:0004980 A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema. Atopic dermatitis Atopic neurodermatitis Besnier's prurigo allergic allergic dermatitis allergic form of dermatitis atopic eczema eczema eczematous dermatitis atopic eczema MONDO:0004981 A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (CDISC) atrial fibrillation (disease) A-fib AF AFib atrial fibrillation atrial fibrillation (disease) atrial fibrillation MONDO:0004982 Inflammation of the pancreas. inflammation of pancreas pancreas inflammation pancreatitis MONDO:0004983 A male infertility characterized by dirsuption of the process of sperm development from diploid cells into mature haploid spermatozoa. spermatogenic failure spermatogenic failure MONDO:0004984 A biologic subset of breast carcinoma defined by high expression of genes characteristic of basal epithelial cells, including KRT5 and KRT17, annexin 8, CX3CL1, and TRIM29, and usually by lack of expression of the estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2). It is the most common subtype of breast cancer associated with BRCA1 mutations, and is associated with a poor prognosis. basal-like breast cancer basal-like breast carcinoma basal-like subtype of breast carcinoma basal-like breast carcinoma MONDO:0004985 A disorder of the brain that causes unusual shifts in mood, energy, activity levels and the ability to carry out day-to-day tasks. Often these moods range and shift from periods of elation and energized behavior to those of hopelessness and depression. bipolar disorder major affective disorder manic-depression bipolar depression bipolar disorder manic phase manic bipolar I disorder manic bipolar affective disorder manic depression manic depressive disorder manic disorder mixed bipolar disorder MAFD bipolar affective disorder depressive-manic psych. major bipolar affective disorder manic-depressive illness manic-depressive psychosis bipolar disorder MONDO:0004986 A carcinoma that arises from epithelial cells of the urinary bladder bladder cancer cancer of bladder cancer of the bladder cancer of the urinary bladder cancer of urinary bladder urinary bladder cancer bladder carcinoma carcinoma bladder carcinoma of bladder carcinoma of the bladder carcinoma of the urinary bladder carcinoma of urinary bladder urinary bladder carcinoma urinary bladder carcinoma MONDO:0004987 A benign or malignant, primary or metastatic neoplasm of the bladder. - 2003 bladder neoplasm bladder tumor bladder tumors neoplasm of bladder neoplasm of the bladder neoplasm of the urinary bladder neoplasm of urinary bladder tumor of bladder tumor of the bladder tumor of the urinary bladder tumor of urinary bladder urinary bladder neoplasm urinary bladder neoplasm (disease) urinary bladder neoplasms urinary bladder tumor urinary bladder tumors urinary bladder neoplasm MONDO:0004988 A carcinoma that arises from glandular epithelial cells of the breast adenocarcinoma of breast adenocarcinoma of the breast breast adenocarcinoma mammary adenocarcinoma breast adenocarcinoma MONDO:0004989 A carcinoma that arises from epithelial cells of the breast breast cancer breast cancer, NOS cancer of breast cancer of the breast cancer, breast breast carcinoma carcinoma of breast carcinoma of the breast mammary carcinoma breast carcinoma MONDO:0004990 Subsets of breast carcinoma defined by expression of genes characteristic of luminal epithelial cells. breast tumor luminal luminal breast cancer luminal breast carcinoma breast tumor luminal A or B MONDO:0004991 A solitary adenocarcinoma arising from the lung measuring 3 cm or less. It is characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension. It is usually a non-mucinous adenocarcinoma, but rarely may be mucinous. bac bronchioalveolar adenocarcinoma of lung bronchioalveolar adenocarcinoma of the lung bronchioalveolar lung carcinoma bronchiolo-alveolar carcinoma of lung bronchiolo-alveolar carcinoma of the lung bronchiolo-alveolar lung carcinoma bronchioloalveolar adenocarcinoma of lung bronchioloalveolar adenocarcinoma of the lung bronchioloalveolar carcinoma bronchioloalveolar lung adenocarcinoma carcinoma, bronchioloalveolar, malignant minimally invasive lung adenocarcinoma bronchiolo-alveolar adenocarcinoma minimally invasive lung adenocarcinoma MONDO:0004992 A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas. CA cancer cell type cancer malignancy malignant Growth malignant neoplasm malignant neoplasm (disease) malignant neoplastic disease malignant tumor neoplasm (disease), malignant neoplasm, malignant organ system cancer primary cancer MT cancer MONDO:0004993 A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas. Morphologically, the malignant epithelial cells may display abnormal mitotic figures, anaplasia, and necrosis. Carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Carcinomas invade the surrounding tissues and tend to metastasize to other anatomic sites. Lung carcinoma, skin carcinoma, breast carcinoma, colon carcinoma, and prostate carcinoma are the most frequently seen carcinomas. epithelioma Other carcinoma carcinoma carcinoma, malignant epithelial carcinoma epithelioma malignant malignant epithelial neoplasm malignant epithelial tumor malignant epithelioma carcinoma MONDO:0004994 A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive. Cardiomyopathies cardiomyopathy cardiomyopathy MONDO:0004995 A disease involving the cardiovascular system. cardiovascular disease cardiovascular disease (CVD) cardiovascular disorder cardiovascular system disease cardiovascular system disease or disorder disease of cardiovascular system disease of subdivision of hemolymphoid system disease or disorder of cardiovascular system disorder of cardiovascular system circulatory system disease cardiovascular disorder MONDO:0004996 Acute myeloid leukemia occurring in childhood. acute myeloid leukemia (AML) acute myeloid leukemia of childhood childhood AML childhood acute granulocytic leukemia childhood acute myeloblastic leukemia childhood acute myelocytic leukemia childhood acute myelogenous leukemia childhood acute myeloid leukaemia childhood acute myeloid leukemia paediatric acute myeloid leukaemia pediatric AML pediatric acute myeloblastic leukemia pediatric acute myelocytic leukemia pediatric acute myelogenous leukemia pediatric acute myeloid leukemia childhood acute myeloid leukemia MONDO:0004997 A benign, chondroid-producing, well-circumscribed, lytic neoplasm usually arising from the epiphysis of long bones. It is characterized by the presence of chondroblasts, osteoclast-like giant cells, chondroid formation, calcification, and mitotic activity. In aggressive cases, there is rearrangement of the 8q21 chromosome band. It occurs most frequently in children and young adults and rarely metastasizes. chondroblastoma (disease) chondroblastoma chondroblastoma (disease) chondroblastoma of bone CHBL chondroblastoma MONDO:0005001 Inflammation of the stomach that is chronic in nature. chronic gastritis (disease) chronic gastritis chronic gastritis (disease) gastritis (disease), chronic chronic gastritis MONDO:0005002 A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of chronic obstructive pulmonary disease are chronic obstructive bronchitis and emphysema. COPD COPD, chronic obstructive pulmonary disease chronic obstructive airway disease chronic obstructive airways disease chronic obstructive lung disease chronic obstructive pulmonary disease (COPD) chronic obstructive pulmonary disease, (COPD) cold cold (chronic obstructive lung disease) disease (COPD), chronic obstructive obstructive lung disease, chronic obstructive pulmonary disease (COPD), chronic pulmonary disease (COPD), chronic obstructive chronic obstructive pulmonary disease MONDO:0005003 A chronic inflammatory process causing damage and fibrosis of the pancreatic parenchyma. Signs and symptoms include abdominal pain, malabsorption and diabetes mellitus. pancreatitis, chronic chronic pancreatitis MONDO:0005004 A malignant neoplasm composed of glandular epithelial clear cells. Various architectural patterns may be seen, including papillary, tubulocystic, and solid. adenocarcinoma, clear cell, malignant clear cell adenocarcinoma clear cell adenocarcinoma (morphologic abnormality) clear cell adenocarcinoma NOS (morphologic abnormality) mesonephroma NOS (morphologic abnormality) water-clear cell adenocarcinoma water-clear cell adenocarcinoma (morphologic abnormality) Wolffian duct neoplasm clear cell carcinoma malignant mesonephroma mesonephroid clear cell adenocarcinoma mesonephroid clear cell carcinoma mesonephroma, malignant mesonephroma, malignant (morphologic abnormality) water-clear cell carcinoma clear cell adenocarcinoma MONDO:0005005 A malignant epithelial neoplasm of the kidney characterized by the presence of lipid-containing clear cells within a vascular network. The tumor may metastasize to unusual sites and late metastasis is common. Grawitz tumor RCC, clear cell adenocarcinoma clear cell adenocarcinoma of kidney clear cell adenocarcinoma of the kidney clear cell adenocarcinoma, kidney clear cell carcinoma of kidney clear cell carcinoma of the kidney clear cell kidney carcinoma clear cell renal cell cancer clear cell renal cell carcinoma conventional (clear cell) renal cell adenocarcinoma conventional (clear cell) renal cell carcinoma conventional renal cell carcinoma kidney clear cell adenocarcinoma kidney clear cell carcinoma renal cell carcinoma, clear cell adenocarcinoma renal clear cell adenocarcinoma renal clear cell carcinoma clear-cell metastatic renal cell carcinoma hypernephroma clear cell renal carcinoma MONDO:0005006 A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. It is associated with internal tandem duplications in the BCOR gene. It metastasizes to lung, bone, brain and soft tissue. CCSK childhood clear cell sarcoma of the kidney childhood kidney clear cell sarcoma childhood renal clear cell sarcoma clear cell sarcoma - kidney clear cell sarcoma of kidney clear cell sarcoma of the kidney kidney clear cell sarcoma pediatric kidney clear cell sarcoma pediatric renal clear cell sarcoma renal clear cell sarcoma clear cell sarcoma of kidney MONDO:0005007 An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion. colloid adenocarcinoma of colon colloid adenocarcinoma of the colon colloid colon adenocarcinoma colloidal adenocarcinoma of colon colloidal adenocarcinoma of the colon colloidal colon adenocarcinoma colon colloid adenocarcinoma colon colloidal adenocarcinoma colon mucinous adenocarcinoma colonic colloid adenocarcinoma colonic colloidal adenocarcinoma colonic mucinous adenocarcinoma mucinous adenocarcinoma of colon mucinous adenocarcinoma of the colon mucinous colon adenocarcinoma colon mucinous adenocarcinoma MONDO:0005008 The most common type of colorectal carcinoma. It is characterized by the presence of malignant glandular epithelial cells invading through the muscularis mucosa into the submucosa. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma. adenocarcinoma of large bowel adenocarcinoma of large intestine adenocarcinoma of the large bowel adenocarcinoma of the large intestine colorectal (colon or rectal) adenocarcinoma colorectal adenocarcinoma colorectum adenocarcinoma large bowel adenocarcinoma large intestine adenocarcinoma Editor note: we follow NCIT in treating colorectal and large intestine as equivalent colorectal adenocarcinoma MONDO:0005009 Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales. CHF cardiac failure, congestive congestive heart disease failure, congestive heart heart failure, congestive weak heart congestive heart failure MONDO:0005010 Narrowing of the coronary arteries due to fatty deposits inside the arterial walls. The diagnostic criteria may include documented history of any of the following: documented coronary artery stenosis greater than or equal to 50% (by cardiac catheterization or other modality of direct imaging of the coronary arteries); previous coronary artery bypass surgery (CABG); previous percutaneous coronary intervention (PCI); previous myocardial infarction. (ACC) CAD CHD CHD (coronary heart disease) coronary artery disease coronary artery disease or disorder coronary disease coronary heart disease disease of coronary artery disease or disorder of coronary artery disorder of coronary artery coronary arteriosclerosis coronary artery disorder MONDO:0005011 A gastrointestinal disorder characterized by chronic inflammation involving all layers of the intestinal wall, noncaseating granulomas affecting the intestinal wall and regional lymph nodes, and transmural fibrosis. Crohn disease most commonly involves the terminal ileum; the colon is the second most common site of involvement. Crohn disease Crohn's disease Crohn's disease of colon Crohn's disease of large bowel granulomatous colitis pediatric Crohn's disease regional enteritis Crohn disease MONDO:0005012 A primary melanoma arising from atypical melanocytes in the skin. Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi. Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma. cutaneous melanoma (disease) cutaneous (skin) melanoma cutaneous melanoma cutaneous melanoma (disease) malignant cutaneous melanoma malignant ear melanoma malignant lip melanoma malignant lower limb melanoma malignant melanoma (of skin), stage unspecified malignant melanoma of ear and/or external auricular canal malignant melanoma of skin malignant melanoma of skin of lower limb malignant melanoma of skin of trunk except scrotum malignant melanoma of skin of upper limb malignant melanoma of skin stage unspecified malignant neck melanoma malignant scalp melanoma malignant trunk melanoma malignant upper limb melanoma melanoma (disease) of zone of skin melanoma of skin melanoma of the skin skin melanoma skin, melanoma zone of skin melanoma zone of skin melanoma (disease) cutaneous melanoma MONDO:0005013 An aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. Due to the aggressive nature of the disease, its prognosis is poor. Dedifferentiated chondrosarcoma DDCHS dedifferentiated chondrosarcoma MONDO:0005015 A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization. https://github.com/monarch-initiative/mondo/issues/5723 diabetes mellitus (disease) DM diabetes diabetes mellitus diabetes mellitus (disease) diabetes mellitus MONDO:0005016 Progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis. DKD diabetic nephropathy type 1 diabetes nephropathy type 2 diabetes nephropathy diabetic kidney disease MONDO:0005017 An adenocarcinoma arising from the stomach. Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma. Many cells contain mucin droplets, producing a signet-ring configuration. adenocarcinoma of linitis plastica type adenocarcinoma of the linitis plastica type carcinoma, diffuse type carcinoma, diffuse type (morphologic abnormality) diffuse adenocarcinoma of stomach diffuse adenocarcinoma of the stomach diffuse gastric adenocarcinoma diffuse stomach adenocarcinoma gastric diffuse adenocarcinoma stomach diffuse type adenocarcinoma diffuse type stomach adenocarcinoma diffuse gastric adenocarcinoma MONDO:0005019 A variant of systemic scleroderma characterized by sclerosis of the skin, Raynaud phenomenon, and organ involvement, including pulmonary fibrosis, renal disease, and gastrointestinal tract involvement. diffuse systemic sclerosis systemic sclerosis, diffuse diffuse scleroderma MONDO:0005020 A non-neoplastic or neoplastic disorder that affects the small or large intestine. disease of intestine disease or disorder of intestine disorder of intestine intestinal disease intestinal disorder intestine disease intestine disease or disorder disease, intestinal diseases, intestinal intestinal disorder MONDO:0005021 Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure. dilated cardiomyopathy congestive cardiomyopathy familial dilated cardiomyopathy idiopathic dilation cardiomyopathy primary dilated cardiomyopathy dilated cardiomyopathy MONDO:0005023 A carcinoma entirely confined to the mammary ducts. It is also known as DCIS. There is no evidence of invasion of the basement membrane. Currently, it is classified into three categories: High-grade DCIS, intermediate-grade DCIS and low-grade DCIS. In this classification the DCIS grade is defined by a combination of nuclear grade, architectural growth pattern and presence of necrosis. The size of the lesion as well as the grade and the clearance margins play a major role in dictating the most appropriate therapy for DCIS. DCIS carcinoma in situ of mammary duct ductal breast carcinoma in situ ductal carcinoma in situ ductal carcinoma in situ (DCIS) ductal carcinoma in situ of breast ductal carcinoma in situ of the breast intraductal breast carcinoma intraductal carcinoma intraductal carcinoma of breast intraductal carcinoma of the breast mammary duct carcinoma in situ mammary duct in situ carcinoma non-infiltrating ductal adenocarcinoma of breast non-infiltrating ductal adenocarcinoma of the breast non-infiltrating ductal breast adenocarcinoma non-infiltrating ductal breast carcinoma non-infiltrating ductal carcinoma of breast non-infiltrating ductal carcinoma of the breast non-infiltrating intraductal adenocarcinoma non-infiltrating intraductal adenocarcinoma of breast non-infiltrating intraductal adenocarcinoma of the breast non-infiltrating intraductal breast adenocarcinoma non-infiltrating intraductal carcinoma non-invasive ductal adenocarcinoma of breast non-invasive ductal adenocarcinoma of the breast non-invasive ductal breast adenocarcinoma non-invasive ductal breast carcinoma non-invasive ductal carcinoma of breast non-invasive ductal carcinoma of the breast non-invasive intraductal adenocarcinoma of breast non-invasive intraductal adenocarcinoma of the breast non-invasive intraductal breast adenocarcinoma stage 0 mammary duct carcinoma breast ductal carcinoma in situ ductal breast carcinoma in situ MONDO:0005025 Inflammation of the endocardium. endocarditis (disease) endocarditis endocarditis (disease) endocardium inflammation inflammation of endocardium endocarditis MONDO:0005026 An adenocarcinoma characterized by the presence of malignant glandular epithelial cells resembling endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament. endometrioid adenocarcinoma endometrioid carcinoma endometrioid carcinoma of female reproductive system endometrioid carcinoma of the female reproductive system female reproductive endometrioid carcinoma endometrioid adenocarcinoma MONDO:0005027 A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions. epilepsy seizure disorder epilepsy MONDO:0005028 A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus. Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported. Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas. Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. The prognosis is poor. adenocarcinoma - esophagus adenocarcinoma of esophagus adenocarcinoma of the esophagus esophageal adenocarcinoma esophagus adenocarcinoma oesophageal adenocarcinoma esophageal adenocarcinoma MONDO:0005029 A chronic myeloproliferative neoplasm that involves primarily the megakaryocytic lineage. It is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage. (WHO, 2008) https://github.com/monarch-initiative/mondo/issues/230 ET essential thrombocytemia essential thrombocythaemia essential thrombocythemia essential thrombocytosis hemorrhagic thrombocythemia primary thrombocythemia primary thrombocytosis idiopathic thrombocythemia essential thrombocythemia https://rarediseases.info.nih.gov/diseases/6594/essential-thrombocythemia MONDO:0005030 A fetus that does not grow beyond the 10th percentile of conventionally accepted weight for gestational age. IUGR fetal Growth retardation fetal SGA fetal growth retardation fetal small for gestational Age fetus small for gestational Age intrauterine Growth restriction intrauterine Growth retardation Editor note: check if should be a disease fetal growth restriction MONDO:0005031 A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern. fibromatosis fibromatosis MONDO:0005032 A benign, encapsulated tumor, arising from the follicular cells of the thyroid gland. It may be associated with thyroid hormone secretion but it does not have malignant characteristics. https://github.com/monarch-initiative/mondo/issues/5166 thyroid adenoma (disease) adenoma of the thyroid adenoma of the thyroid gland adenoma of thyroid adenoma of thyroid gland adenoma, follicular cell, benign follicular adenoma follicular adenoma (morphologic abnormality) follicular adenoma of the thyroid follicular adenoma of the thyroid gland follicular adenoma of thyroid follicular adenoma of thyroid gland follicular thyroid adenoma thyroid adenoma thyroid adenoma (disease) thyroid follicle adenoma thyroid follicular adenoma thyroid gland adenoma thyroid gland follicular adenoma follicular thyroid adenoma MONDO:0005033 A benign neuroblastic tumor of the sympathetic nervous system that occurs in childhood. Ganglioneuroma typically arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. Common presenting features include a palpable abdominal mass, hepatomegaly, and a thoracic mass detected on routine chest X-ray. ganglioneuroma (disease) ganglioneuroma ganglioneuroma (Schwannian Stroma-dominant) ganglioneuroma (disease) ganglioneuroma, benign neural Crest tumor, benign GN ganglioneuroma MONDO:0005034 A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. The nuclear features which characterize the thyroid gland papillary carcinoma are absent. Radiation exposure is a risk factor and it comprises approximately 10% to 15% of thyroid cancers. Clinically, it usually presents as a solitary mass in the thyroid gland. It is generally unifocal and thickly encapsulated and shows invasion of the capsule or the vessels. Diagnostic procedures include thyroid ultrasound and fine needle biopsy. follicular cancer of the thyroid follicular cancer of the thyroid gland follicular cancer of thyroid follicular cancer of thyroid gland thyroid gland follicular cancer well-differentiated follicular carcinoma carcinoma of thyroid follicle carcinoma, follicular cell, malignant follicular carcinoma follicular carcinoma of the thyroid follicular carcinoma of the thyroid gland follicular carcinoma of thyroid follicular carcinoma of thyroid gland follicular thyroid cancer follicular thyroid carcinoma follicular thyroid gland carcinoma thyroid follicle carcinoma thyroid follicular carcinoma thyroid gland follicular carcinoma well-differentiated follicular adenocarcinoma follicular adenocarcinoma follicular adenocarcinoma (morphologic abnormality) follicular adenocarcinoma, well differentiated follicular adenocarcinoma, well differentiated (morphologic abnormality) thyroid gland adenocarcinoma thyroid gland follicular carcinoma MONDO:0005035 A neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume. There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, nodular. ganglioneuroblastoma (disease) ganglioneuroblastoma ganglioneuroblastoma (disease) ganglioneuroblastoma (morphologic abnormality) ganglioneuroblastoma, malignant ganglioneuroblastoma MONDO:0005036 A carcinoma that arises from glandular epithelial cells of the stomach adenocarcinoma - stomach adenocarcinoma of stomach adenocarcinoma of the stomach gastric (stomach) adenocarcinoma gastric adenocarcinoma stomach adenocarcinoma STAD gastric adenocarcinoma MONDO:0005037 An adenocarcinoma of the stomach arising on a background of intestinal metaplasia. Microscopically, it is characterized by a glandular pattern and it closely resembles a colonic adenocarcinoma. Grossly, it tends to be nodular, polypoid or ulcerated. gastric intestinal type adenocarcinoma gastric intestinal-type adenocarcinoma intestinal adenocarcinoma of stomach intestinal adenocarcinoma of the stomach intestinal gastric adenocarcinoma intestinal stomach adenocarcinoma intestinal type stomach adenocarcinoma gastric intestinal type adenocarcinoma MONDO:0005039 A disease involving the reproductive system. disease of reproductive system disease or disorder of reproductive system disorder of reproductive system genital disorders genital system disease reproductive disease reproductive system disease reproductive system disease or disorder reproductive system disorder reproductive system disorder MONDO:0005040 A benign or malignant, gonadal or extragonadal neoplasm that originates from germ cells. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor. germ cell neoplasm germ cell tumor neoplasm of germ cell neoplasm of the germ cell tumor of germ cell tumor of the germ cell germ cell cancer germ cell tumour germ cells tumors germ cell tumor MONDO:0005041 Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor. glaucoma (disease) glaucoma glaucoma (disease) glaucoma MONDO:0005043 An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement. hyperplasia hyperplastic hyperplasia MONDO:0005044 Persistently high systemic arterial blood pressure. Based on multiple readings (blood pressure determination), hypertension is currently defined as when systolic pressure is consistently greater than 140 mm Hg or when diastolic pressure is consistently 90 mm Hg or more. HTN blood pressure, high blood pressure, increased high blood pressure hyperpiesia hypertensive disease increased blood pressure pressure, high blood vascular hypertensive disorder hypertension hypertensive disorder MONDO:0005045 A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract. https://github.com/monarch-initiative/mondo/issues/5962 hypertrophic cardiomyopathy hypertrophic obstructive cardiomyopathy hypertrophic subaortic stenosis obstructive hypertrophic cardiomyopathy familial hypertrophic cardiomyopathy HCM - hypertrophic cardiomyopathy hypertrophic cardiomyopathy MONDO:0005046 A disorder resulting from an abnormality in the immune system. disease of immune system disease or disorder of immune system disorder of immune system immune disease immune disorder immune dysfunction immune system disease or disorder immune system disorder immune system disorder MONDO:0005047 Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues. Sterile fertility disorders infertile sterile sterility infertility Editor note: dubious as to whether this is a disease as defined, check with clingen before obsoleting infertility disorder MONDO:0005048 An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. It may or may not be associated with inappropriate secretion of insulin and an associated clinical syndrome. Beta cell tumor Beta cell tumor of pancreas Beta cell tumor of the pancreas beta cell neoplasm beta cell tumor of the pancreas insulin-producing islet cell tumor insulin-producing tumor of islet cells insulin-producing tumor of the islet cells pancreatic Beta cell tumor pancreatic insulin producing NET pancreatic insulin producing neoplasm pancreatic insulin producing tumor pancreatic insulin-producing neuroendocrine tumor pancreatic insulin-producing tumor pancreatic insulin-producing neuroendocrine tumor MONDO:0005050 An invasive ductal breast carcinoma associated with a lobular carcinomatous component. The lobular carcinomatous component may be in situ or invasive. infiltrating ductal and lobular carcinoma invasive duct and lobular carcinoma invasive ductal and lobular carcinoma invasive ductal and lobular carcinoma MONDO:0005051 An infiltrating lobular adenocarcinoma of the breast. The malignant cells lack cohesion and are arranged individually or in a linear manner (Indian files), or as narrow trabeculae within the stroma. The malignant cells are usually smaller than those of ductal carcinoma, are less pleomorphic, and have fewer mitotic figures. lobular carcinoma lobular carcinoma (morphologic abnormality) lobular carcinoma NOS (morphologic abnormality) lobular carcinoma of the breast classic invasive lobular carcinoma infiltrating lobular adenocarcinoma infiltrating lobular breast carcinoma infiltrating lobular carcinoma of breast infiltrating lobular carcinoma of the breast invasive lobular adenocarcinoma invasive lobular breast carcinoma invasive lobular carcinoma invasive lobular carcinoma of breast invasive lobular carcinoma of the breast invasive lobular carcinoma, classic type breast invasive lobular carcinoma invasive lobular breast carcinoma MONDO:0005052 Irritable bowel syndrome (IBS) is a chronic functional condition of the lower gastrointestinal (GI) tract characterised by abdominal pain or discomfort and disordered bowel habit (diarrhoea, constipation, or fluctuation between the two). IBD IBS irritable bowel syndrome irritable colon mucus colitis spastic colon psychogenic IBS irritable bowel syndrome MONDO:0005053 Lack of blood supply to an area of the body, resulting in impairment of tissue oxygenation. ischemia Editor note: represented as a finding in other ontologies ischemic disease MONDO:0005055 A malignant neoplasm characterized by a vascular proliferation which usually contains blunt endothelial cells. Erythrocyte extravasation and hemosiderin deposition are frequently present. The most frequent site of involvement is the skin; however it may also occur internally. It generally develops in people with compromised immune systems including those with acquired immune deficiency syndrome (AIDS). Kaposi's sarcoma (disease) KS Kaposi sarcoma Kaposi's sarcoma Kaposi's sarcoma (disease) Kaposi's sarcoma of conjunctiva Kaposi's sarcoma of cornea Kaposi's sarcoma of lung Kaposi's sarcoma of palate Kaposi's sarcoma of soft tissue Kaposi's sarcoma of soft tissues Kaposi's sarcoma of anus Kaposi's sarcoma of central nervous system Kaposi's sarcoma of esophagus Kaposi's sarcoma of gastrointestinal sites Kaposi's sarcoma of heart Kaposi's sarcoma of lymph nodes Kaposi's sarcoma of penis Kaposi's sarcoma of skin Kaposi's sarcoma of the CNS Kaposi's sarcoma of the gallbladder Kaposi's sarcoma of the prostate Kaposi's sarcoma, lung Kaposi's sarcoma, skin anal Kaposi's sarcoma cardiac Kaposi's sarcoma central nervous system Kaposi's sarcoma conjunctival Kaposi's sarcoma corneal Kaposi's sarcoma cutaneous Kaposi's sarcoma esophageal Kaposi's sarcoma gallbladder Kaposi's sarcoma gastric Kaposi's sarcoma intestinal Kaposi's sarcoma lymph node Kaposi's sarcoma lymphadenopathic Kaposi's sarcoma multiple hemorrhagic sarcoma palate Kaposi's sarcoma penis Kaposi's sarcoma prostate Kaposi's sarcoma pulmonary Kaposi's sarcoma soft tissue Kaposi's sarcoma African lymphadenopathic Kaposi's sarcoma HHV8 KSHV Kaposi sarcoma herpesvirus Kaposi's sarcoma-associated herpesvirus (KSHV) Mediterranean Kaposi sarcoma human herpesvirus 8 non AIDS related Kaposi sarcoma Kaposi's sarcoma MONDO:0005056 Squamous cell carcinomas with morphologically prominent production of keratin. keratinizing epidermoid carcinoma keratinizing squamous cell carcinoma squamous cell carcinoma, keratinizing squamous cell carcinoma, keratinizing (morphologic abnormality) keratinizing squamous cell carcinoma MONDO:0005057 A usually aggressive carcinoma composed of large malignant cells which display neuroendocrine characteristics. It is characterized by the presence of high mitotic activity and necrotic changes. The vast majority of cases are positive for neuron-specific enolase. Representative examples include lung, breast, cervical, and thymic neuroendocrine carcinomas. LCNEC large cell NEC large cell neuroendocrine carcinoma large-cell neuroendocrine carcinoma large cell neuroendocrine carcinoma MONDO:0005058 An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women. It is characterized by a proliferation of neoplastic spindle cells. Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas. Leiomyosarcomas leiomyosarcoma leiomyosarcoma (excluding uterine leiomyosarcoma) leiomyosarcoma - not uterine leiomyosarcoma, malignant leiomyosarcoma https://rarediseases.info.nih.gov/diseases/6880/leiomyosarcoma MONDO:0005059 A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years. leukemia (disease) blood (leukemia) leukemia leukemia (disease) leukemia, disease leukemia, malignant leukemias leukemias, general leukemia MONDO:0005060 A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid liposarcoma. The metastatic potential is higher in less differentiated tumors. lip sarcoma liposarcoma liposarcoma, malignant sarcoma of lip liposarcoma https://rarediseases.info.nih.gov/diseases/6913/liposarcoma MONDO:0005061 A carcinoma that arises from the lung and is characterized by the presence of malignant glandular epithelial cells. There is a male predilection with a male to female ratio of 2:1. Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding. If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever. Tobacco smoke is a known risk factor. adenocarcinoma of lung adenocarcinoma of the lung bronchogenic lung adenocarcinoma lung adenocarcinoma non-small cell lung adenocarcinoma nonsmall cell adenocarcinoma lung adenocarcinoma https://rarediseases.info.nih.gov/diseases/5742/lung-adenocarcinoma MONDO:0005062 A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas. lymphoid cancer lymphoma lymphoma (Hodgkin and non-Hodgkin) lymphoma (Hodgkin's and non-Hodgkin's) lymphoma, malignant lymphomatous malignant lymphoma MLYM This is potentially too broad as well as overlaps with leukemia and should be obsoleted. lymphoma MONDO:0005063 An infiltrating breast carcinoma with a relatively favorable prognosis. It is an uncommon carcinoma, accounting for less than 1% of all infiltrating breast carcinomas. It is well circumscribed, with soft cut surface and often of considerable size. Microscopically, the predominant growth pattern is syncytial with broad anastomosing bands or sheets of malignant cells. The malignant cells are round with abundant cytoplasm and vesicular nuclei. The sheets of malignant cells are associated with a marked lymphoplasmacytic infiltrate. Glandular or tubular structures are absent. infiltrating medullary carcinoma of breast infiltrating medullary carcinoma of the breast invasive medullary breast carcinoma invasive medullary carcinoma of breast invasive medullary carcinoma of the breast medullary breast cancer medullary breast carcinoma medullary breast carcinoma with lymphoid Stroma medullary carcinoma of breast medullary carcinoma of the breast breast medullary carcinoma medullary breast carcinoma MONDO:0005065 A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos. mesothelioma mesothelioma MONDO:0005066 A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process. disorder of metabolic process metabolic disease metabolic disorder metabolic process disease disease of metabolism metabolic disease MONDO:0005067 A synovial sarcoma characterized by the presence of an epithelial or a spindle cell component only. monophasic sarcoma of synovium monophasic sarcoma of the synovium monophasic synovial sarcoma monophasic synovial sarcoma MONDO:0005068 Gross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in coronary thrombosis. myocardial infarction (disease) MI MI, myocardial infarction heart attack infarction (MI), myocardial myocardial infarct myocardial infarction myocardial infarction (disease) myocardial infarction, (MI) myocardial infarction MONDO:0005070 A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias. neoplasm (disease) cell process disease disease of cellular proliferation neoplasia neoplasm neoplasm (disease) neoplastic disease neoplastic growth tumor tumor disease other neoplasm neoplasm MONDO:0005071 A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves. disease of nervous system disease or disorder of nervous system disorder of nervous system nervous system disease nervous system disease or disorder nervous system disorder neurologic disease neurologic disorder neurological disease neurological disorder 'psychiatric disorder' is not classified as a 'nervous system disorder' in Mondo (though it is often as such): the hallmarks of psychiatric disorders are based in behavior and emotional state, and the relation with nervous system malfunction or damage is not always clearly determined. nervous system disorder MONDO:0005072 Neuroblastoma (NB) is the most common solid, extracranial childhood tumor. It is an aggressive pediatric cancer that originates from neural crest tissues of the sympathetic nervous system. neural Crest tumor, malignant neuroblastoma neuroblastoma (Schwannian Stroma-poor) neuroblastoma, malignant NB NB is a disease of the sympaticoadrenal lineage of the neural crest, with tumors forming anywhere in the sympathetic nervous system. The tumors most commonly arise in the abdomen (65%), however, they also occur in the neck, chest, and pelvis. Approximately 50% of patients present with evidence of metastasis. Frequent metastasis sites include cortical bone, bone marrow, liver, and lymph nodes. The most common genetic change is MYCN amplification, which occurs in approximately 20% of patients, and is strongly correlated with advanced stage NB. Additionally, deletions of the short arm of chromosome 1 (1p) are found in 25–35% of patients and can be correlated with MYCN amplification. Outside of MYC linked changes, allelic loss of 11q is present in 35–45% of patients and is also associated with high-risk disease features. neuroblastoma https://rarediseases.info.nih.gov/diseases/7185/neuroblastoma MONDO:0005073 A neoplasm composed of melanocytes that usually appears as a dark spot on the skin. melanocytic Nevus melanotic Nevus mole mole of skin nevus melanocytic nevus MONDO:0005074 A malignant cystic serous or mucinous epithelial neoplasm characterized by the presence of malignant glandular epithelial cells forming papillary structures. Stromal invasion is present. cystadenocarcinoma, papillary, malignant papillary cystadenocarcinoma papillary cystadenocarcinoma (morphologic abnormality) papillary cystadenocarcinoma, NOS (morphologic abnormality) papillary cystadenocarcinoma https://rarediseases.info.nih.gov/diseases/10162/papillary-cystadenocarcinoma MONDO:0005075 A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. Radiation exposure is a risk factor and it is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries. Diagnostic procedures include thyroid ultrasound and fine needle biopsy. Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei. The nuclei also display clearing or have a ground glass appearance. papillary cancer of the thyroid papillary cancer of the thyroid gland papillary cancer of thyroid papillary cancer of thyroid gland papillary carcinoma of the thyroid papillary carcinoma of the thyroid gland papillary carcinoma of thyroid papillary carcinoma of thyroid gland papillary thyroid cancer papillary thyroid carcinoma papillary thyroid gland carcinoma thyroid gland papillary cancer thyroid gland papillary carcinoma thyroid papillary carcinoma thyroid gland papillary carcinoma MONDO:0005076 An acute or chronic inflammatory process that affects the tissues that surround and support the teeth. chronic pericementitis inflammation of periodontium periodontium inflammation periodontosis periodontitis MONDO:0005077 A contagious bacterial respiratory infection caused by Bordetella pertussis. It is characterized by severe and uncontrollable cough, resulting in a whooping sound during breathing following the cough. Bordetella infection Bordetella pertussis caused disease or disorder Bordetella pertussis disease or disorder Bordetella pertussis infection Bordetella pertussis infectious disease WC - whooping cough pertussis whooping cough infection due to Bordetella pertussis pertussis https://rarediseases.info.nih.gov/diseases/8692/whooping-cough MONDO:0005078 A benign, borderline, or malignant fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It may recur following resection. The recurrence rates are higher for borderline and malignant phyllodes tumors. In borderline and malignant phyllodes tumors metastases to distant anatomic sites can occur. The incidence of metastases is higher in malignant phyllodes tumors. CSP cystosarcoma phyllodes phyllodes neoplasm phyllodes tumor Note that this class covers both breast and prostate phyllodes tumors phyllodes tumor MONDO:0005079 A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations. polyp polyp MONDO:0005080 Increased blood pressure in the portal venous system. It is most commonly caused by cirrhosis. Other causes include portal vein thrombosis, Budd-Chiari syndrome, and right heart failure. Complications include ascites, esophageal varices, encephalopathy, and splenomegaly. portal hypertension MONDO:0005081 Preeclampsia is a hypertensive disorder of pregnancy that is characterized by new-onset hypertension with proteinuria presenting after 20 weeks of gestation, and depending on mild or severe forms may initially present with severe headache, visual disturbances, and hyperreflexia. gestational hypertension hypertension induced by pregnancy pre-eclampsia pre-eclamptic toxaemia preeclampsia preeclampsia/eclampsia pregnancy associated hypertension pregnancy toxemia proteinuric hypertension of pregnancy toxaemia of pregnancy preeclampsia MONDO:0005082 A carcinoma that arises from glandular epithelial cells of the prostate gland adenocarcinoma of prostate adenocarcinoma of the prostate prostate adenocarcinoma prostate gland adenocarcinoma prad prostate adenocarcinoma MONDO:0005083 An autoimmune condition characterized by red, well-delineated plaques with silvery scales that are usually on the extensor surfaces and scalp. They can occasionally present with these manifestations: pustules; erythema and scaling in intertriginous areas, and erythroderma, that are often distributed on extensor surfaces and scalp. psoriasis MONDO:0005084 A disease that has its basis in the disruption of mental process. disorder of mental process mental or behavioural disorder mental process disease mental disorder MONDO:0005085 A wedge-shaped fibrovascular lesion arising from the bulbar conjunctiva and extending to the cornea. It is caused by chronic exposure to solar ultraviolet radiation, heat, and dust. It may cause severe vision loss. Studies have linked pterygium to neoplastic proliferation and suggest that it may be a stem cell disorder. pterygium of conjunctiva and cornea surfer's eye pterygium MONDO:0005086 A carcinoma that arises from glandular epithelial cells of the kidney renal cell carcinoma (disease) RCC hypernephroma renal cell carcinoma renal cell carcinoma (disease) kidney adenocarcinoma renal cell adenocarcinoma renal cell carcinoma MONDO:0005087 A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma. disease of respiratory system disease or disorder of respiratory system disorder of respiratory system respiratory disease respiratory disorder respiratory system disease respiratory system disease or disorder respiratory system disorder respiratory system disorder MONDO:0005089 A usually aggressive malignant neoplasm of the soft tissue or bone. It arises from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the neoplasm. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma. mesenchymal tumor, malignant sarcoma sarcoma of soft tissue and bone sarcoma of the soft tissue and bone sarcoma, malignant tumor of soft tissue and skeleton sarcoma MONDO:0005090 A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality. https://github.com/monarch-initiative/mondo/issues/4521 schizophrenia (disease) schizophrenia 12 schizophrenia schizophrenia (disease) schizophrenia-1 SCZD schizoaffective disorder schizophrenia with or without an affective disorder schizophrenia, susceptibility to schizophrenia MONDO:0005091 A viral respiratory infection caused by the SARS coronavirus. It is transmitted through close person-to-person contact. It is manifested with high fever, headache, dry cough and myalgias. It may progress to pneumonia and cause death. SARS SARS coronavirus caused disease or disorder SARS coronavirus disease or disorder SARS coronavirus infectious disease SARS-CoV infection acute respiratory coronavirus infection severe acute respiratory syndrome MONDO:0005092 A usually aggressive, poorly differentiated invasive adenocarcinoma characterized by the presence of malignant glandular cells in which the nucleus is pressed to one side by the presence of intracytoplasmic mucus. It may arise from the stomach, small and large intestine, ampulla of Vater, appendix, gallbladder, pancreas, lung, bladder, breast, and prostate gland. signet ring carcinoma signet ring carcinoma NOS (morphologic abnormality) signet ring cell adenocarcinoma signet ring cell carcinoma signet ring cell carcinoma (morphologic abnormality) signet ring cell carcinoma MONDO:0005093 Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs. cutaneous disorder disease of zone of skin disease or disorder of zone of skin disorder of skin disorder of zone of skin skin and subcutaneous tissue disease skin diseases and manifestations skin disorder zone of skin disease zone of skin disease or disorder dermatosis genodermatosis skin disorder MONDO:0005094 An antiquated term that refers to benign or malignant mesenchymal neoplasms characterized by the presence of neoplastic spindle-shaped to round cells arranged around thin-walled branching vascular spaces. haemangiopericytic meningioma haemangiopericytic meningioma [obs] hemangiopericytoma hemangiopericytoma, malignant (morphologic abnormality) malignant hemangiopericytoma hemangiopericytoma MONDO:0005095 A group of inflammatory rheumatic diseases associated with arthritis and enthesitis, and often involving the axial skeleton. The most common form of spondyloarthritis is ankylosing spondylitis. Other forms include axial spondyloarthritis, peripheral spondyloarthritis, reactive arthritis, psoriatic arthritis/spondylitis and enteropathic arthritis/spondylitis. seronegative spondyloarthropathy spondarthropathy spondylarthrosis spondyloarthritis spondylarthropathy spondyloarthropathy MONDO:0005096 A carcinoma arising from squamous epithelial cells. Morphologically, it is characterized by the proliferation of atypical, often pleomorphic squamous cells. Squamous cell carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Well differentiated carcinomas are usually associated with keratin production and the presence of intercellular bridges between adjacent cells. Representative examples are lung squamous cell carcinoma, skin squamous cell carcinoma, and cervical squamous cell carcinoma. carcinoma, squamous cell, malignant epidermoid carcinoma epidermoid cell cancer malignant epidermoid cell neoplasm malignant epidermoid cell tumor malignant squamous cell neoplasm malignant squamous cell tumor squamous carcinoma squamous cell cancer squamous cell carcinoma squamous cell carcinoma (morphologic abnormality) squamous cell carcinoma NOS (morphologic abnormality) squamous cell epithelioma squamous cell carcinoma MONDO:0005097 A carcinoma arising from squamous bronchial epithelial cells. It may be keratinizing or non-keratinizing. Keratinizing squamous cell carcinoma is characterized by the presence of keratinization, pearl formation, and/or intercellular bridges. Non-keratinizing squamous cell carcinoma is characterized by the absence of keratinization, pearl formation, and intercellular bridges. Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma. epidermoid cell carcinoma of lung epidermoid cell carcinoma of the lung epidermoid cell lung carcinoma lung squamous cell carcinoma squamous cell carcinoma of lung squamous cell carcinoma of the lung squamous cell lung cancer squamous cell lung carcinoma In DO this is classified as nscLC, but this leads to logical issues as we have a distinct class for squamous nscLC squamous cell lung carcinoma MONDO:0005098 A sudden loss of neurological function secondary to hemorrhage or ischemia in the brain parenchyma due to a vascular event. CVA CVA, cerebrovascular accident cerebrovascular accident cerebrovascular accident, (CVA) stroke stroke syndrome syndrome, stroke undetermined stroke cerebral infarction Stroke includes two main types, hemorrhagic and ischemic. Both types of stroke can cause acute seizures at the time of the acute event, as well as epilepsy as a long-term complication. In the elderly, cerebrovascular disease and stroke are the most common cause of acute seizures and epilepsy. stroke disorder MONDO:0005099 Intracranial hemorrhage into the subarachnoid space. subarachnoid hemorrhage (disease) subarachnoid hemorrhage subarachnoid hemorrhage (disease) subarachnoid hemorrhage MONDO:0005100 A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. The two types of systemic scleroderma, limited cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A relationship exists between the extent of skin area affected and degree of internal organ/system involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome, digestive system telangiectasias, renal hypertension and/or pulmonary hypertension. Scleroderma PSS (progressive systemic sclerosis) SSc SSc, diffuse sclerosis Scleroderma (& [systemic sclerosis]) Scleroderma syndrome Scleroderma, diffuse Scleroderma, systemic diffuse Scleroderma diffuse sclerosis progressive systemic sclerosis systemic Scleroderma systemic scleroderma systemic sclerosis systemic sclerosis MONDO:0005101 An inflammatory bowel disease involving the mucosal surface of the large intestine and rectum. It may present with an acute or slow onset and follows an intermittent or continuous course. Signs and symptoms include abdominal pain, diarrhea, fever, weight loss, and intestinal hemorrhage. ulcerative colitis (disease) colitis ulcerative ulcerative colitis ulcerative colitis (disease) left-sided ulcerative colitis ulcerative proctosigmoiditis ulcerative colitis MONDO:0005102 An aggressive malignant mesenchymal neoplasm that arises from the liver and usually occurs in older children. It is composed of immature spindle, stellate, polymorphous, and giant cells. UES embryonal sarcoma embryonal sarcoma (undifferentiated sarcoma) embryonal sarcoma, undifferentiated sarcoma, undifferentiated, malignant undifferentiated (embryonal) sarcoma undifferentiated sarcoma undifferentiated (embryonal) sarcoma MONDO:0005103 A locally aggressive malignant neoplasm composed of mature adipocytes showing cell size variation and nuclear atypia. It is often associated with the presence of hyperchromatic multinucleated stromal cells, and varying numbers of lipoblasts. There are three histologic subtypes, sclerosing, inflammatory, and spindle cell liposarcoma. These tumors do not usually metastasize unless they undergo dedifferentiation. atypical lipomatous tumor ALT WDLS atypical lipoma well differentiated liposarcoma well differentiated liposarcoma of deep soft tissue well-differentiated liposarcoma well-differentiated liposarcoma MONDO:0005104 Cancer cells are given a score of 1 to 3, with 1 being assigned when they look similar to normal cells and 3 being used when the cancer cells look very abnormal. Certain types of sarcoma are given a higher score automatically. See also NCIt:C9419 (Synonym of AJCC G1 Sarcoma) aJCC grade 1 sarcoma aJCC G1 sarcoma aJCC grade I sarcoma well differentiated sarcoma aJCC grade 1 sarcoma MONDO:0005105 A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain. melanoma (disease) Naevocarcinoma malignant melanoma melanoma melanoma (disease) melanoma, malignant melanoma MONDO:0005106 A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue. benign tumor of adipose tissue lipoma lipoma, benign lipomatosis, familial multiple lipomatous neoplasm (morphologic abnormality) multiple lipomatosis lipomatous neoplasm lipomatous tumor lipoma MONDO:0005108 Any disease caused by a virus. Viruses caused disease or disorder Viruses disease or disorder Viruses infection Viruses infectious disease infection, viral viral disease viral disorder viral infection virus infection infections, Viruses viral infectious disease MONDO:0005109 An infection caused by the human immunodeficiency virus. HIV infection Human immunodeficiency virus caused disease or disorder Human immunodeficiency virus disease or disorder Human immunodeficiency virus infectious disease human immunodeficiency virus infectious disease HIV infectious disease MONDO:0005110 A disease of the heart muscle or myocardium proper whose cause is unknown. idiopathic cardiomyopathy MONDO:0005111 An infection that is caused by Epstein-Barr virus. EBV infection Epstein-Barr Virus infection Human gammaherpesvirus 4 caused disease or disorder Human gammaherpesvirus 4 disease or disorder Human gammaherpesvirus 4 infectious disease EBV infections Epstein Barr Virus infections Herpesvirus 4 infections, Human Human Herpes Virus 4 infections Human Herpesvirus 4 infections Virus infections, Epstein-Barr infections, EBV infections, Epstein-Barr Virus Epstein-Barr virus infection MONDO:0005112 A malignant neoplasm that arises from mesothelial cells in the pleura and shows a diffuse growth pattern. It arises on the parietal and sometimes visceral pleura as multiple small nodules that later become confluent and invade the chest wall adipose tissue and muscle. Asbestos exposure is the main cause for the development of pleural malignant mesothelioma. It usually affects patients over sixty years of age. The latency period is long. Patients usually present with pleural effusion, dyspnea and chest wall pain. Additional signs and symptoms include chills, sweating, weight loss, and weakness. Morphologic variants include epithelioid, desmoplastic, sarcomatoid, and biphasic mesothelioma. The clinical course is usually aggressive. pleura mesothelioma malignant mesothelioma of pleura malignant mesothelioma of the pleura malignant pleural mesothelioma pleural diffuse malignant mesothelioma pleural malignant mesothelioma malignant pleural mesothelioma MONDO:0005113 An acute infectious disorder that is caused by gram positive or gram negative bacteria; representative examples include pneumococcal, streptococcal, salmonella, and meningeal infections. Bacteria caused disease or disorder Bacteria disease or disorder Bacteria infectious disease bacterial disease bacterial disorder bacterial infection bacterial infectious disease infection, bacterial infections, bacterial bacterial infectious disease MONDO:0005114 Infections with bacteria of the species streptococcus pneumoniae. Streptococcus pneumoniae caused disease or disorder Streptococcus pneumoniae disease or disorder Streptococcus pneumoniae infectious disease pneumococcal infection Streptococcus pneumoniae infection Streptococcus pneumoniae infections infection, Streptococcus pneumoniae infection, pneumococcal infections, Streptococcus pneumoniae infections, pneumococcal pneumoniae infection, Streptococcus pneumoniae infections, Streptococcus pneumococcal infection MONDO:0005115 A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see epilepsy, complex partial) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321) epilepsy of temporal lobe epilepsy, temporal lobe temporal lobe epilepsy epilepsy, familial temporal lobe temporal lobe epilepsy MONDO:0005116 A systemic infection caused by the Gram-positive bacterium Tropheryma whipplei. It affects the small intestine resulting in malabsorption. Other sites or systems affected by the infection are the joints, central nervous system, and the cardiovascular system. Tropheryma whipplei caused disease or disorder Tropheryma whipplei disease or disorder Tropheryma whipplei infectious disease Whipple disease intestinal lipodystrophy intestinal lipophagic granulomatosis secondary non-tropical sprue Tropheryma whippelii infection Whipple's disease Whipple disease MONDO:0005117 Aeromonas hydrophila infection is a bacterial disease caused by infection from the Aeromonas hydrophila bacteria. Aeromonas hydrophila caused disease or disorder Aeromonas hydrophila disease or disorder Aeromonas hydrophila infectious disease MONDO:0005118 A tick-borne, infectious disease caused by Anaplasma phagocytophilum, an obligate intracellular bacterium that is typically transmitted to humans by ticks of the Ixodes ricinus species complex. HGE human anaplasmosis due to Anaplasma phagocytophilum human granulocytic anaplasmosis human granulocytic ehrlichiosis human anaplasmosis caused by Anaplasma phagocytophilum human ehrlichial infection, human granulocytic type infection by Anaplasma phagocytophilum human granulocytic ehrlichiosis MONDO:0005119 An infection caused by Bacillus anthracis bacteria. It may affect the lungs, gastrointestinal tract, or skin. Patients with lung infection present with fever, headaches, cough, chest pain and shortness of breath. Patients with gastrointestinal infection present with nausea, vomiting and bloody diarrhea. Patients with skin infection develop blisters and ulcers. Bacillus anthracis caused disease or disorder Bacillus anthracis disease or disorder Bacillus anthracis infectious disease anthrax anthrax disease Editor note: DOID says skin disease but we suppress this as it would be identical to subclass skin anthrax anthrax infection MONDO:0005121 A bacterial infection induced by Enterococcus faecalis which is the most prevalent species (along with Enterococcus faecium) cultured from humans, accounting for more than 90% of clinical isolates. Enterococci are part of the normal intestinal flora of humans and animals. They have been long recognized as important human pathogens. Enterococcus faecalis caused disease or disorder Enterococcus faecalis disease or disorder Enterococcus faecalis infectious disease Enterococcus faecalis infection MONDO:0005122 A bacterial infection induced by Pectobacterium carotovorum which is is a bacterium of the family Enterobacteriaceae. This bacterius is a ubiquitous plant pathogen with a wide host range (carrot, potato, tomato, leafy greens, squash and other cucurbits, onion, green peppers, African violets etc.), able to cause disease in almost any plant tissue it invades. It is a very economically important pathogen in terms of postharvest losses, and a common cause of decay in stored fruits and vegetables. Decay caused by E. carotovora is often simply referred to as "bacterial soft rot" (BSR) though this may also be caused by other bacteria. Most plants or plant parts can resist invasion by the bacteria, unless some type of wound is present. High humidity and temperatures around 30°C favor development of decay. Mutants can be produced which are less virulent. Virulence factors include: pectinases, cellulases, (which degrade plant cell walls), and also proteases, lipases, xylanases and nucleases (along with the normal virulence factors for pathogens – Fe acquisition, LPS integrity, multiple global regulatory systems). Pectobacterium caused disease or disorder Pectobacterium disease or disorder Pectobacterium infectious disease Pectobacterium carotovorum infection MONDO:0005124 Leprosy is a chronic infectious disease affecting primarily the skin and peripheral nervous system. Hansen disease Hansen's disease Mycobacterium leprae caused disease or disorder Mycobacterium leprae disease or disorder Mycobacterium leprae infectious disease leprosy MONDO:0005125 A form of leprosy in which there are clinical manifestations of both principal types (lepromatous and tuberculoid). The disease may shift toward one of these two polar or principal forms. Midborderline leprosy borderline leprosy [group B] borderline or dimorphous leprosy borderline leprosy MONDO:0005126 A principal or polar form of leprosy in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (leprosy, lepromatous), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others. smooth leprosy tuberculoid leprosy [type T] type T leprosy tuberculoid leprosy MONDO:0005127 A chronic communicable infection which is a principal or polar form of leprosy. This disorder is caused by mycobacterium leprae and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage. lepromatous leprosy [type L] type L leprosy lepromatous leprosy MONDO:0005129 Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.) cataract (disease) cataract cataract (disease) opacity of the lens cataract MONDO:0005130 An autoimmune genetic disorder with an unknown pattern of inheritance that primarily affects the digestive tract. It is caused by intolerance to dietary gluten. Consumption of gluten protein triggers an immune response which damages small intestinal villi and prevents adequate absorption of nutrients. Clinical signs include abdominal cramping, diarrhea or constipation and weight loss. If untreated, the clinical course may progress to malnutrition, anemia, osteoporosis and an increased risk of intestinal malignancies. However, the prognosis is favorable with successful avoidance of gluten in the diet. celiac sprue coeliac disease gluten intolerance gluten-induced enteropathy idiopathic steatorrhea non tropical sprue celiac disease MONDO:0005131 A carcinoma arising from either the exocervical squamous epithelium or the endocervical glandular epithelium. The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma. cancer of cervix cancer of the cervix cancer of the uterine cervix cancer of uterine cervix cervical cancer cervical cancer, NOS cervix cancer uterine cervix cancer carcinoma cervix uteri carcinoma of cervix carcinoma of cervix uteri carcinoma of the cervix carcinoma of the cervix uteri carcinoma of the uterine cervix carcinoma of uterine cervix cervical carcinoma cervix carcinoma cervix uteri carcinoma uterine cervix carcinoma cervical carcinoma MONDO:0005132 A herpesvirus infection caused by Cytomegalovirus. Healthy individuals generally do not produce symptoms. However, the infection may be life-threatening in affected immunocompromised patients. The virus may cause retinitis, esophagitis, gastritis, and colitis. Morphologically, it is characterized by the presence of intranuclear inclusion bodies. CMV infection Cytomegaloviral infection HCMV infection cytomegalovirus infection MONDO:0005133 The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs. endometriosis (disease) endometriosis endometriosis (disease) endometriosis MONDO:0005134 An autoimmune demyelinating disease of the central nervous system that is produced experimentally in animals by the injection of homogenized brain or spinal cord in Freund's adjuvant. Myelin basic protein appears to be the antigen that elicits the hypersensitivity immune response which is characterized by focal areas of lymphocyte and macrophage infiltration into the brain, associated with demyelination and destruction of the blood-brain barrier. Experimental allergic encephalomyelitis (EAE) is used as an animal model for demyelinating diseases of the human central nervous system such as multiple sclerosis. experimental autoimmune encephalomyelitis MONDO:0005135 A successful invasion of a host by an organism that uses the host for food and shelter. disease caused by parasite parasitic disease parasitic infection parasitic infectious disease ectoparasitic disease parasitemia disease, parasitic diseases, parasitic infestation parasite infestation parasitism parasitosis parasitic infectious disease MONDO:0005136 Malaria is a serious and sometimes fatal disease caused by a parasite that commonly infects a certain type of mosquito which feeds on humans. Infection with malaria parasites may result in a wide variety of symptoms, ranging from absent or very mild symptoms to severe disease and even death. People who get malaria are typically very sick with high fevers, shaking chills, and flu-like illness. In general, malaria is a curable disease if diagnosed and treated promptly and correctly.Treatment depends on many factors including disease severity, the species of malaria parasite causing the infection and the part of the world in which the infection was acquired. plasmodiosis malaria https://rarediseases.info.nih.gov/diseases/6961/malaria MONDO:0005137 Any condition related to a disturbance between proper intake and utilization of nourishment. nutritional disorder nutrition disease nutritional disorder MONDO:0005138 A carcinoma that arises from epithelial cells of the lung cancer of lung cancer of the lung lung cancer lung cancer, NOS carcinoma of lung carcinoma of the lung lung carcinoma lung carcinoma MONDO:0005139 An excess of body weight, normally defined as an individual with a body mass index greater than 35 or a body weight greater than one hundred percent of ideal body weight. severe obesity morbid obesity MONDO:0005140 A malignant neoplasm originating from the surface ovarian epithelium. It accounts for the greatest number of deaths from malignancies of the female genital tract and is the fifth leading cause of cancer fatalities in women. It is predominantly a disease of older white women of northern European extraction, but it is seen in all ages and ethnic groups. Adenocarcinomas constitute the vast majority of ovarian carcinomas. The pattern of metastatic spread in ovarian carcinoma is similar regardless of the microscopic type. The most common sites of involvement are the contralateral ovary, peritoneal cavity, para-aortic and pelvic lymph nodes, and liver. Lung and pleura are the most common sites of extra-abdominal spread. The primary form of therapy is surgical. The overall prognosis of ovarian carcinoma remains poor, a direct result of its rapid growth rate and the lack of early symptoms. --2002 ovarian cancer ovarian epithelial cancer carcinoma of ovary carcinoma of the ovary epithelial ovarian cancer ovarian carcinoma ovary carcinoma Editor note: unclear why this is distinct from malignant ovarian epithelial tumor in NCIT. ovarian carcinoma MONDO:0005141 Infections with bacteria of the genus pseudomonas. Pseudomonas caused disease or disorder Pseudomonas disease or disorder Pseudomonas infectious disease Pseudomonas infection MONDO:0005142 A Pseudomonas aeruginosa CF5 infection is a Pseudomonas infection of strain CF5. Pseudomonas aeruginosa CF5 infection MONDO:0005143 A Pseudomonas aeruginosa PA14 infection is a Pseudomonas infection of strain PA14. Pseudomonas aeruginosa PA14 infection MONDO:0005144 An instance of amyotrophic lateral sclerosis that is caused by an inherited modification of the individual's genome. hereditary amyotrophic lateral sclerosis familial amyotrophic lateral sclerosis MONDO:0005145 Sporadic amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which there is no known cause, such as no family history. sporadic amyotrophic lateral sclerosis MONDO:0005146 An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term. PTSD post-traumatic stress disorder traumatic neurosis combat neurosis post-traumatic stress disorder MONDO:0005147 A chronic condition characterized by minimal or absent production of insulin by the pancreas. IDDM diabetes mellitis type 1 diabetes mellitis type I immune mediated diabetes insulin dependent diabetes insulin-dependent diabetes mellitus juvenile diabetes type 1 diabetes type I diabetes type I diabetes mellitus type 1 diabetes mellitus MONDO:0005148 A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity. https://github.com/monarch-initiative/mondo/issues/4521 NIDDM T2DM - type 2 diabetes mellitus adult onset diabetes adult-onset diabetes diabetes mellitis type 2 diabetes mellitis type II diabetes mellitus, noninsulin-dependent diabetes mellitus, noninsulin-dependent, association with diabetes mellitus, noninsulin-dependent, late onset diabetes mellitus, type 2 diabetes mellitus, type II diabetes, type 2 insulin resistance, severe, digenic non-insulin dependent diabetes non-insulin dependent diabetes mellitus non-insulin-dependent diabetes mellitus noninsulin dependent diabetes noninsulin-dependent diabetes mellitus type 2 diabetes type 2 diabetes mellitus type 2 diabetes mellitus non-insulin dependent type II diabetes type II diabetes mellitus diabetes mellitus, noninsulin-dependent, 2 diabetes mellitus, non-insulin-dependent, susceptibility to diabetes mellitus, noninsulin-dependent, susceptibility to diabetes mellitus, type 2, protection against diabetes mellitus, type 2, susceptibility to diabetes mellitus, type II, susceptibility to hypertension, insulin resistance-related, susceptibility to insulin resistance, susceptibility to maturity-onset diabetes type 2 diabetes mellitus, susceptibility to type 2 diabetes mellitus MONDO:0005149 Increased pressure within the pulmonary circulation due to lung or heart disorder. https://github.com/monarch-initiative/mondo/issues/4614 pulmonary hypertension MONDO:0005150 Age-related loss of vision in the central portion of the retina (macula), secondary to retinal degeneration. AMD ARMD Senile macular degeneration Senile macular retinal degeneration age related Maculopathies age related maculopathy age-related macular degeneration macular degeneration, age-related age related macular degeneration age-related macular degeneration MONDO:0005151 A disease involving the endocrine system. disease of endocrine system disease or disorder of endocrine system disorder of endocrine system endocrine disease endocrine disorder endocrine system disease endocrine system disease or disorder endocrine system disorder endocrinopathy thyroid or other glandular disorders endocrine system disorder MONDO:0005152 A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions. pituitary hormone deficiency pituitary insufficiency pituitary hypofunction hypopituitarism https://rarediseases.info.nih.gov/diseases/2917/hypopituitarism MONDO:0005153 An adenocarcinoma arising from the cervical epithelium. It accounts for approximately 15% of invasive cervical carcinomas. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors. Grossly, advanced cervical adenocarcinoma may present as an exophytic mass, an ulcerated lesion, or diffuse cervical enlargement. Microscopically, the majority of cervical adenocarcinomas are of the endocervical (mucinous) type. https://github.com/monarch-initiative/mondo/issues/4897 adenocarcinoma - cervix adenocarcinoma cervix uteri adenocarcinoma of cervix adenocarcinoma of cervix uteri adenocarcinoma of the cervix adenocarcinoma of the cervix uteri adenocarcinoma of the uterine cervix adenocarcinoma of uterine cervix cervical adenocarcinoma cervix adenocarcinoma cervix uteri adenocarcinoma uterine cervix adenocarcinoma cervical adenocarcinoma MONDO:0005154 A disease involving the liver. disease of liver disease or disorder of liver disorder of liver hepatic disease hepatic disorder liver and intrahepatic bile duct disorder liver disease liver disease or disorder liver disorder liver disorder MONDO:0005155 A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholism, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy. cirrhosis cirrhosis of liver liver cirrhosis cirrhosis of liver MONDO:0005156 Inflammation of the brain and the spinal cord. central nervous system inflammation encephalitis &/or myelitis encephalitis and/or myelitis inflammation of central nervous system encephalomyelitis MONDO:0005157 A neoplasm composed of a lymphocytic cell population which is usually malignant (clonal) by molecular genetic and/or immunophenotypic analysis. Lymphocytic neoplasms include Hodgkin and non-Hodgkin lymphomas, acute and chronic lymphocytic leukemias, and plasma cell neoplasms. lymphocytic and plasma cell neoplasm lymphocytic and plasma cell tumor lymphocytic and plasma cell tumour lymphocytic and plasmacytic neoplasm lymphocytic neoplasm lymphocytic tumor lymphoid and plasma cell tumor lymphoid and plasma cell tumour lymphoid and plasmacytic neoplasm lymphoid and plasmacytic tumor lymphoid and plasmacytic tumour lymphoid neoplasm lymphoid tumor lymphoid neoplasm MONDO:0005159 A carcinoma that arises from epithelial cells of the prostate gland. carcinoma of prostate carcinoma of prostate gland carcinoma of the prostate prostate carcinoma prostate gland carcinoma cancer of prostate cancer of the prostate prostate cancer prostate cancer, NOS prostate carcinoma MONDO:0005160 A ruptured aneurysm located in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta. aortic aneurysm (disease) abdominal aortic aneurysm, ruptured aortic aneurysm aortic aneurysm (disease) aortic aneurysm of unspecified site, ruptured ruptured abdominal aortic aneurysm ruptured aortic aneurysm ruptured thoracic aneurysm ruptured thoracic aortic aneurysm ruptured thoracoabdominal aortic aneurysm thoracic aortic aneurysm which HAS ruptured thoracic aortic aneurysm, ruptured thoracoabdominal aortic aneurysm, ruptured aortic aneurysm MONDO:0005161 An infectious process caused by a human papillomavirus. This infection can cause abnormal tissue growth. Human Papillomavirus infection Human papilloma Virus infection Human papillomavirus caused disease or disorder Human papillomavirus disease or disorder Human papillomavirus infectious disease human papilloma virus infection MONDO:0005164 A malignant mesenchymal fibroblastic neoplasm affecting the soft tissue and bone. fibrosarcoma (disease) fibrocytic tumor fibrosarcoma fibrosarcoma (disease) fibrosarcoma (excluding infantile fibrosarcoma) fibrosarcoma - not infantile fibrosarcoma of soft tissue fibrosarcoma, malignant fibrous tissue neoplasm malignant fibromatous neoplasm fibrosarcoma MONDO:0005165 A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites. benign neoplasm benign neoplasm (disease) neoplasm (disease), benign benign tumor benign unclassifiable tumor cell type benign neoplasm neoplasm, benign organ system benign neoplasm Editor note: see https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/14 benign neoplasm MONDO:0005166 A benign, well-circumscribed, bone-forming neoplasm predominantly composed of lamellar bone. It usually arises from the calvarial, facial, or jaw bones. It is usually asymptomatic but it may cause local swelling or obstruction of the paranasal sinuses. Asymptomatic cases have an indolent clinical course. osteoma (disease) osteoma osteoma (disease) osteoma, benign osteoma MONDO:0005167 A non-metastasizing neoplasm arising from the fibrous tissue. It is characterized by the presence of spindle-shaped fibroblasts. fibroma fibroma, benign fibroma MONDO:0005168 A neoplasm arising from immature B and T cells neoplasm of immature B and T cells MONDO:0005169 A group of neoplasms composed of T-lymphocytes with a mature (peripheral/post-thymic) immunophenotypic profile and/or NK-cells. mature T and NK neoplasms mature T-cell and NK-cell neoplasm mature T-cell neoplasm neoplasm of mature T-cells or NK-cells MONDO:0005170 Proliferation of myeloid cells originating from a primitive stem cell. myeloid malignancy myeloid neoplasm myeloid tumor myeloid neoplasm MONDO:0005172 A disease involving the skeletal system. disease of skeletal system disease or disorder of skeletal system disorder of skeletal system skeletal system disease skeletal system disease or disorder disease of bone and/or joint osteoarthropathy skeletal system disorder MONDO:0005173 A precancerous lesion of the skin composed of atypical keratinocytes. It is characterized by the presence of thick, scaly patches of skin. Several histologic variants have been described, including atrophic, acantholytic, and hyperkeratotic variants. actinic keratosis (disease) SK - solar keratosis actinic (solar) keratosis actinic keratosis actinic keratosis (disease) solar keratosis Senile hyperkeratosis Senile keratosis senile keratosis actinic keratosis MONDO:0005174 Acute form of hypotension (disease). acute hypotension (disease) hypotension (disease), acute acute hypotension MONDO:0005175 Insulitis is an inflammatory infiltration of the islets of Langerhans found especially in young patients with recent onset type 1 diabetes. aggressive insulitis MONDO:0005176 A benign form of insulitis which is an inflammation of the islets of Langerhans of the pancreas. The pancreas and in some cases the Pancreatic β-cells become infiltrated by polymorphonuclear leukocytes and infiltrated by mononuclear cells, leading to inflammation. Benign insulitis describes the process of benign autoreactive T cells infiltrating islets of langerhans, prior to destructive insulitis. benign insulitis MONDO:0005177 A serous neoplasm in which the cysts and papillae are lined by a single layer of cells without atypia, architectural complexity or invasion. serous cystadenoma serous cystoma serous cystadenoma MONDO:0005178 A noninflammatory degenerative joint disease occurring chiefly in older persons, characterised by degeneration of the articular cartilage, hypertrophy of bone at the margins and changes in the synovial membrane. It is accompanied by pain and stiffness, particularly after prolonged activity. https://github.com/monarch-initiative/mondo/issues/1395 degenerative arthritis degenerative joint disease hypertrophic arthritis osteoarthrosis osteoarthrosis and allied disorder osteoarthritis MONDO:0005179 A benign adenoma of ovary ovarian adenoma benign MONDO:0005180 A progressive degenerative disorder of the central nervous system characterized by loss of dopamine producing neurons in the substantia nigra and the presence of Lewy bodies in the substantia nigra and locus coeruleus. Signs and symptoms include tremor which is most pronounced during rest, muscle rigidity, slowing of the voluntary movements, a tendency to fall back, and a mask-like facial expression. Parkinson disease Parkinson's disease paralysis agitans Parkinson disease MONDO:0005181 A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422) chronic progressive external ophthalmoplegia [ambiguous] progressive external ophthalmoplegia chronic progressive external ophthalmoplegia progressive external ophthalmoplegia MONDO:0005182 A benign neoplasm characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma. Most commonly the primary site is the ovary, but serous cystadenofibromas can occur in the pancreas as well. serous cystadenofibroma MONDO:0005183 A benign ovarian surface epithelial-stromal tumor characterized by the presence of cystic structures lined by serous epithelial cells, mucinous columnar epithelial cells, or endometrial-type well-differentiated cells. benign cystadenoma of ovary benign cystadenoma of the ovary benign ovarian cystadenoma cystadenoma of ovary cystadenoma of the ovary cystoma serosum simplex ovarian cystadenoma ovary cystadenoma simple cystoma of ovary simple cystoma of the ovary simple ovarian cystoma ovarian cystadenoma MONDO:0005184 An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor. ductal adenocarcinoma of pancreas ductal adenocarcinoma of the pancreas malignant neoplasm of duct of Wirsung pancreas ductal adenocarcinoma pancreatic duct adenocarcinoma pancreatic duct cancer pancreatic ductal adenocarcinoma pancreatic ductal carcinoma pancreatic tubular adenocarcinoma pancreatic ductal adenocarcinoma MONDO:0005185 An older, deprecated term that encompassed three major types of autoimmune or autoinflammatory arthritis in children: systemic-onset, pauciarticular, or polyarticular arthritis. The juvenile rheumatoid arthritis classification system has been replaced by the International League of Associations for Rheumatology (ILAR) juvenile idiopathic arthritis classification system. JRA Juvenile rheumatoid arthritis Juvenile rheumatoid arthritis (AQ) This class is scheduled for obsoletion chronic childhood arthritis MONDO:0005186 A psychologically and socially impaired state, with or without physiological changes, that develops as a result of using cocaine and which leads to compulsive behaviors to acquire the substance. cocaine addiction cocaine dependence MONDO:0005187 An infectious process caused by the human herpesvirus 8. This infection is associated with Kaposi sarcoma. HHV8 infection Human Herpes Virus 8 infection Human Herpesvirus 8 infection human herpesvirus 8 infection MONDO:0005188 A Kaposi sarcoma that develops after organ transplantation or immunosuppressive treatment. iatrogenic Kaposi sarcoma iatrogenic Kaposi's sarcoma iatrogenic Kaposi's sarcoma MONDO:0005189 Carotid stenosis is a narrowing or constriction of the inner surface (lumen) of the carotid artery, usually caused by atherosclerosis. The internal carotid artery supplies the brain. Plaque often builds up at that division, and causes a narrowing (stenosis). Pieces of plaque can break off and block the small arteries above in the brain, which causes a stroke. Plaque can also build up at the origin of the carotid artery at the aorta. internal carotid artery stenosis MONDO:0005190 Macroglobulinemia is the presence of increased levels of macroglobulins in the circulating blood. It is a Plasma cell dyscrasia, resembling leukemia, with cells of lymphocytic, plasmacytic, or intermediate morphology, which secrete a monoclonal immunoglobulin M component. There is diffuse infiltration by the malignant cells of the bone marrow and also, in many cases, of the spleen, liver, or lymph nodes. The circulating macroglobulin can produce symptoms of hyperviscosity syndrome: weakness, fatigue, bleeding disorders, and visual disturbances. Peak incidence of macroglobulinemia is in the sixth and seventh decades of life. primary macroglobulinemia macroglobulinemia MONDO:0005191 A melanoma that has spread from its primary site to another anatomic site. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain. metastatic malignant melanoma metastatic melanoma metastatic melanoma MONDO:0005192 A carcinoma that arises from epithelial cells of the exocrine pancreas cancer of pancreas cancer of the pancreas exocrine cancer pancreas cancer pancreatic cancer carcinoma of exocrine pancreas carcinoma of pancreas carcinoma of the pancreas exocrine pancreas carcinoma pancreas carcinoma pancreatic cancer (not islets) pancreatic carcinoma pancreatic carcinoma, familial exocrine pancreatic carcinoma MONDO:0005193 A neoplastic proliferation of the epithelial cells that line the acini and the ducts of the prostate gland. The neoplastic epithelial cells are confined within the acini and the ducts and they do not invade the surrounding prostatic stroma. Morphologically, it is classified as low or high grade. pin pin - prostatic intraepithelial neoplasia prostate intraepithelial neopl. prostate intraepithelial neoplasia (pin) prostatic intraepithelial neoplasia prostate intraepithelial neoplasia MONDO:0005194 Infection with any of the rotaviruses. Specific infections include human infantile diarrhea, neonatal calf diarrhea, and epidemic diarrhea of infant mice. Rotavirus caused disease or disorder Rotavirus disease or disorder Rotavirus infectious disease Rotavirus infection MONDO:0005195 Septic peritonitis is an inflammatory condition of the peritoneum that occurs secondary to microbial contamination. This clinically important condition has a wide variety of clinical courses as well as high morbidity and mortality due to secondary multiorgan dysfunction. This article reviews the etiology and pathophysiology of this condition and its diagnosis in small animals; a companion article addresses treatment and prognosis. septic peritonitis MONDO:0005197 A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma. Thymus neoplasm Thymus tumor neoplasm of Thymus neoplasm of the Thymus neoplasm of thymus thymic neoplasm thymic tumor thymus neoplasm (disease) thymus tumor tumor of Thymus tumor of the Thymus tumor of thymus THYMUS thymus neoplasm MONDO:0005198 Intraepithelial neoplasia of the vulvar squamous epithelium. There is no evidence of invasion. This category includes vulvar high grade squamous intraepithelial lesion and vulvar intraepithelial neoplasia, differentiated type. VIN intraepithelial neoplasia of the vulva intraepithelial neoplasia of vulva squamous vulvar intraepithelial neoplasia vulva intraepithelial neoplasia vulval intraepithelial neoplasia vulvar intraepithelial tumor vulvar intraepithelial neoplasia MONDO:0005200 An dilated cardiomyopathy caused by infection with Viruses. Viruses caused dilated cardiomyopathy Viruses dilated cardiomyopathy viral dilated cardiomyopathy MONDO:0005201 A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium. cardiomyopathy, constrictive primary restrictive cardiomyopathy restrictive cardiomyopathy familial restrictive cardiomyopathy restrictive cardiomyopathy MONDO:0005202 A genetic predisposition to form IgE antibodies in response to exposure to allergens and therefore, for the development of immediate (type I) hypersensitivity and atopic conditions, such as allergic rhinitis; bronchial asthma, atopic dermatitis, and food allergy. Mutations of specific alleles on the long arm of chromosome 5 have been associated with higher levels of IL-4 and IgE and are known as IL-4 promoter polymorphisms. Atopic allergy atopic state atopy Editor notes: this is a finding in NCIT atopic IgE-mediated allergic disorder MONDO:0005203 Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the tissue (reperfusion), including swelling; hemorrhage; necrosis; and damage from free radicals. The most common instance is myocardial reperfusion injury. ischemia reperfusion injury MONDO:0005204 An antiphospholipid syndrome that occurs as an isolated disorder. primary antiphospholipid syndrome MONDO:0005206 A carcinoma arising from the epithelium of the renal parenchyma or the renal pelvis. The majority are renal cell carcinomas. Kidney carcinomas usually affect middle aged and elderly adults. Hematuria, abdominal pain, and a palpable mass are common symptoms. kidney (including renal cell) cancer kidney (renal) cancer kidney cancer renal cancer carcinoma of kidney kidney carcinoma renal carcinoma renal carcinoma MONDO:0005207 An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected. choriocarcinoma (disease) chorioblastoma choriocarcinoma choriocarcinoma (disease) choriocarcinoma, malignant chorioepithelioma chorion carcinoma chorionic carcinoma Editor note: TODO check classification w.r.t carcinoma choriocarcinoma MONDO:0005208 A amelanotic melanoma that involves the zone of skin. amelanotic cutaneous (skin) melanoma amelanotic malignant melanoma (of skin) amelanotic malignant melanoma of skin amelanotic malignant melanoma of the skin amelanotic malignant skin melanoma amelanotic melanoma of skin amelanotic melanoma of the skin amelanotic melanoma of zone of skin amelanotic skin melanoma skin amelanotic malignant melanoma skin amelanotic melanoma zone of skin amelanotic melanoma amelanotic skin melanoma MONDO:0005210 A malignant mesenchymal neoplasm arising from the wall of the uterine corpus (uterine body). The most representative examples are leiomyosarcoma and endometrial stromal sarcoma. body of uterus sarcoma corpus uteri sarcoma sarcoma of body of uterus sarcoma of corpus uteri sarcoma of the body of uterus sarcoma of the corpus uteri sarcoma of the uterine body sarcoma of the uterine corpus sarcoma of uterine body sarcoma of uterine corpus sarcoma of uterus uterine body sarcoma uterus sarcoma sarcoma of the uterus uterine sarcoma uterine sarcoma/mesenchymal uterine corpus sarcoma https://rarediseases.info.nih.gov/diseases/9383/uterine-sarcoma MONDO:0005211 An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia. ovarian serous adenocarcinoma ovarian serous carcinoma ovary serous adenocarcinoma serous adenocarcinoma of ovary serous adenocarcinoma of the ovary serous carcinoma of ovary serous carcinoma of the ovary serous ovarian cancer ovarian serous adenocarcinoma MONDO:0005212 A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites. rhabdomyosarcoma (disease) rhabdomyosarcoma rhabdomyosarcoma (disease) rhabdomyosarcoma, malignant rhabdomyosarcoma MONDO:0005213 A carcinoma involving a uterus. carcinoma of uterus uterus carcinoma uterine carcinoma MONDO:0005214 A malignant mesenchymal neoplasm that arises from the vulva. Representative examples include childhood botryoid-type embryonal rhabdomyosarcoma, alveolar soft part sarcoma, and leiomyosarcoma. mammalian vulva sarcoma sarcoma of mammalian vulva sarcoma of vulva vulvar sarcoma vulva sarcoma MONDO:0005215 A carcinoma that arises from epithelial cells of the mammalian vulva cancer of the vulva cancer of vulva vulva cancer vulvar cancer carcinoma of mammalian vulva carcinoma of the vulva carcinoma of vulva mammalian vulva carcinoma vulva carcinoma vulvar carcinoma vulvar carcinoma MONDO:0005216 Carcinoma, predominantly squamous cell, arising from the epithelial cells of the hypopharynx. cancer of hypopharynx cancer of the hypopharynx hypopharyngeal cancer hypopharyngeal throat cancer carcinoma of hypopharynx carcinoma of the hypopharynx hypopharyngeal carcinoma hypopharynx carcinoma Carcinoma, predominantly squamous cell, arising from epithelial cells of the hypopharynx hypopharyngeal carcinoma MONDO:0005217 An instance of cardiomyopathy that is caused by an inherited modification of the individual's genome. hereditary cardiomyopathy familial cardiomyopathy MONDO:0005219 Fibrosis associated with cyst formation in the breast parenchyma. benign breast disease breast fibrocystic change cystic disease of breast cystic disease of the breast diffuse cystic mastopathy fibrocystic breast fibrocystic breast changes fibrocystic breast disease fibrocystic change of breast fibrocystic change of the breast fibrocystic disease fibrocystic disease of breast fibrocystic disease of the breast fibrocystic mastopathy mammary dysplasia Some sources classify this as neoplastic but we follow NCIT and classify as non-neoplastic breast fibrocystic disease MONDO:0005220 A carcinoma that arises from epithelial cells of the collecting duct of renal tubule BDC Bellini carcinoma Bellini duct carcinoma cDC carcinoma of collecting duct of renal tubule carcinoma of collecting ducts of Bellini carcinoma of kidney collecting duct carcinoma of renal collecting duct carcinoma of the collecting ducts of Bellini carcinoma of the kidney collecting duct carcinoma of the renal collecting duct collecting duct carcinoma collecting duct of renal tubule carcinoma collecting duct renal cancer collecting duct renal cell carcinoma kidney collecting duct carcinoma renal carcinoma, collecting duct type renal collecting duct carcinoma Bellini’s duct carcinoma collecting duct carcinoma of the kidney renal medullary carcinoma collecting duct carcinoma MONDO:0005221 A carcinoma that arises from the transitional epithelium of the renal pelvis. It is associated with tobacco use and usually presents with gross or microscopic hematuria. Urothelial carcinomas of the renal pelvis are usually of higher grade and higher stage compared to bladder urothelial carcinomas. kidney renal pelvis urothelial cancer renal pelvis transitional cell carcinoma renal pelvis urothelial cancer renal pelvis urothelial carcinoma transitional cell carcinoma of renal pelvis transitional cell carcinoma of the renal pelvis urothelial cell carcinoma of renal pelvis urothelial cell carcinoma of the renal pelvis renal pelvis urothelial carcinoma MONDO:0005223 An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. (WHO, 2001) AML M0 AML with minimal differentiation M0 acute granulocytic leukemia M0 acute granulocytic leukemia with minimal differentiation M0 acute myeloblastic leukemia M0 acute myelocytic leukemia M0 acute myelogenous leukemia M0 acute myelogenous leukemia with minimal differentiation M0 myeloid leukemia M0 myeloid leukemia with minimal differentiation acute myeloblastic leukemia with minimal differentiation acute myeloblastic leukemia, minimally differentiated acute myelocytic leukemia with minimal differentiation acute myelogenous leukemia with minimal differentiation acute myeloid leukemia with minimal differentiation acute myeloid leukemia with minimal differentiation (MO) acute myeloid leukemia, minimally differentiated minimally differentiated acute myeloblastic leukemia AMLMD acute myeloid leukemia with minimal differentiation MONDO:0005224 An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils. (WHO, 2001) AML M1 AML without maturation FAB M1 M1 acute granulocytic leukemia M1 acute granulocytic leukemia without maturation M1 acute myeloblastic leukemia M1 acute myeloblastic leukemia without maturation M1 acute myelocytic leukemia M1 acute myelocytic leukemia without maturation M1 acute myelogenous leukemia M1 acute myelogenous leukemia without maturation M1 acute myeloid leukemia M1 acute myeloid leukemia without maturation acute M1 myeloid leukemia acute granulocytic leukemia without maturation acute myeloblastic leukemia M1 acute myelocytic leukemia without maturation acute myelogenous leukemia without maturation acute myeloid leukemia without maturation acute myeloid leukemia without maturation (FAB M1) AWM acute myeloblastic leukemia type 1 acute myeloblastic leukemia without maturation https://rarediseases.info.nih.gov/diseases/526/acute-myeloblastic-leukemia-without-maturation MONDO:0005227 An inflammatory process characterized by the accumulation of pus within a newly formed tissue cavity which is the result of a bacterial, fungal, or parasitic infection or the presence of a foreign body. abscess (disease) abscess (disease) abscess MONDO:0005229 An infectious disease caused by bacteria causing sepsis. Bacteremias bacteremia symptomatic bacteremia bacterial sepsis bacterial infectious disease with sepsis MONDO:0005230 Inflammation of the dermis and subcutaneous tissues caused by a bacterial infection. Symptoms include erythema, edema, and pain to the affected area. cellulitis (disease) cellulitis cellulitis (disease) cellulitis MONDO:0005231 A viral infection caused by the hepatitis C virus. Hepatitis C virus caused hepatitis Hepatitis C virus hepatitis NANBH hepatitis C infection hepatitis Nona nonB hepatitis type C non-A, non-B Hepatitis viral hepatitis C chronic hepatitis C hepatitis C virus infection MONDO:0005232 A malignant epithelial neoplasm composed of large, atypical cells. carcinoma, large cell large cell carcinoma large cell carcinoma MONDO:0005233 A group of at least three distinct histological types of lung cancer, including non-small cell squamous cell carcinoma, adenocarcinoma, and large cell carcinoma. Non-small cell lung carcinomas have a poor response to conventional chemotherapy. non-small cell lung carcinoma (disease) NSCLC NSCLC - non-small cell lung cancer non-small cell cancer of lung non-small cell cancer of the lung non-small cell carcinoma of lung non-small cell carcinoma of the lung non-small cell lung cancer non-small cell lung carcinoma non-small cell lung carcinoma (disease) non-small cell lung carcinoma MONDO:0005235 A plasma cell myeloma lacking clinical manifestations and organ impairment. asymptomatic myeloma asymptomatic plasma cell myeloma smoldering Multiple myeloma/plasma cell myeloma smoldering multiple myeloma smoldering myeloma smoldering plasma cell myeloma smoldering plasma cell myeloma MONDO:0005236 A non-neoplastic disorder characterized by a localized collection of histiocytes containing lipid. Xanthomas usually occur in the skin and subcutaneous tissues, but occasionally they may involve the deep soft tissues. xanthoma (disease) xanthoma xanthoma (disease) xanthoma MONDO:0005238 A poorly differentiated liposarcoma, characterized by the presence of solid sheets of primitive round mesenchymal cells and the absence of myxoid stroma. cellular myxoid liposarcoma round cell liposarcoma round cell liposarcoma (morphologic abnormality) round cell liposarcoma MONDO:0005240 A disease involving the kidney. disease of kidney disease or disorder of kidney disorder of kidney kidney disease kidney disease or disorder kidney disorder renal disease renal disorder nephropathy kidney disorder MONDO:0005242 An accumulation of pus in a body cavity, usually the pleural space. collection of pus empyema MONDO:0005244 A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs. neuropathy peripheral nerve disorder peripheral neuropathy Editor note: NCIT draws a distinction between neuropathy and peripheral neuropathy see https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/20 peripheral neuropathy MONDO:0005246 An acute or chronic inflammation of the bone and its structures due to infection with pyogenic bacteria. osteomyelitis (disease) osteomyelitis osteomyelitis (disease) osteomyelitis MONDO:0005247 A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine. bacterial urinary tract infection (disease) UTI infection, urinary tract tract, infection of urinary urinary tract infection urinary tract infection (disease) urinary tract infectious disease bacterial urinary tract infection (disease) bacterial urinary tract infection MONDO:0005249 An acute, acute and chronic, or chronic inflammation focally or diffusely affecting the lung parenchyma, caused by an infection in one or both of the lungs (by bacteria, viruses, fungi, or mycoplasma.). Symptoms include cough, shortness of breath, fevers, chills, chest pain, headache, sweating, and weakness. https://github.com/monarch-initiative/mondo/issues/3790 acute pneumonia pneumonia MONDO:0005250 Inflammatory process that involves the chorionic villi (villitis) of the placenta. placental villitis MONDO:0005252 Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction. cardiac failure cardiac insufficiency failure, heart heart failure insufficiency, Cardiac heart failure MONDO:0005253 High-output heart failure is a heart condition that occurs when the cardiac output is higher than normal. high output heart failure MONDO:0005254 A heart failure which results in symptoms such as shortness of breath, fatigue, inability to exerciseb& etc symptomatic heart failure MONDO:0005255 Heart failure characterized by mild symptoms (mild shortness of breath and/or angina) and slight limitation during ordinary activity. mild heart failure MONDO:0005256 Heart failure characterized by marked limitation in activity due to symptoms, even during less-than-ordinary activity, e.g. walking short distances (20b100 m). Patients with moderate heart failure are comfortable only at rest. moderate heart failure MONDO:0005257 Patients with advanced heart failure have severe limitations, experiences symptoms even while at rest and are mostly bedbound patients. advanced heart failure MONDO:0005258 A spectrum of developmental disorders that includes autism, and Asperger syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors. autism spectrum disorder autistic spectrum disorder pervasive developmental disorder - not otherwise specified pervasive developmental disorders atypical autism autism spectrum disorder MONDO:0005259 A disorder most often diagnosed in the pediatric years in which the individual displays marked impairment in social interaction and a repetitive, stereotyped pattern of behavior. The individual, however, displays no delay in language or cognitive development, which differentiates Asperger Syndrome from autism. ASPG autism spectrum disorder without disorder of intellectual development and with mild or no impairment of functional language asperger syndrome, susceptibility to The name Aspergers is controversial, however, it seems to be the community accepted name. Asperger syndrome MONDO:0005260 Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior. https://github.com/monarch-initiative/mondo/issues/3954 autism (disease) autism spectrum disorder Kanner's syndrome autism autism (disease) autistic disorder of childhood onset childhood autism infantile autism autism, susceptiblity to autistic disorder autism MONDO:0005262 A congenital or acquired cyst that is present in the central nervous system. central nervous system cyst (disease) CNS cyst central nervous system cyst central nervous system cyst (disease) cyst of CNS cyst of Central nervous system cyst of the CNS cyst of the Central nervous system Rathke cleft cysts Rathke's cleft cysts Rathkes cleft cysts cleft cysts, Rathke's cyst, suprasellar cysts, Rathke cleft cysts, central nervous system cysts, suprasellar suprasellar cyst suprasellar cysts central nervous system cyst MONDO:0005264 A brief attack (from a few minutes to an hour) of cerebral dysfunction of vascular origin, with no persistent neurological deficit. transient ischemic attack (disease) TIA TIA - transient ischaemic attack attack, transient ischemic ischemic attack, transient transient cerebral ischaemia transient cerebral ischemia (disorder) [ambiguous] transient ischemic attack transient ischemic attack (disease) transient ischemic attacks transient cerebral ischemia transient ischemic attack MONDO:0005265 A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. IBD autoimmune bowel disorder inflammatory bowel disease inflammatory bowel disease MONDO:0005266 A chronic, pathological complication associated with diabetes mellitus, where retinal damages are incurred due to microaneurysms in the vasculature of the retina, progressively leading to abnormal blood vessel growth, and swelling and leaking of fluid from blood vessels, resulting in vision loss or blindness. retinal abnormality - diabetes-related diabetic retinopathy MONDO:0005267 A disease involving the heart and/or pericardium. cardiac disease disease of heart disease or disorder of heart disorder of heart disorder of heart/pericardium heart disease heart disease or disorder heart disorder heart trouble heart/pericardial disease heart/pericardial disease or disorder heart/pericardial disorder heart/pericardial trouble heart disorder MONDO:0005269 A disease involving the carotid artery segment. carotid artery disorder carotid artery segment disease carotid artery segment disease or disorder disease of carotid artery segment disease or disorder of carotid artery segment disorder of carotid artery disorder of carotid artery segment carotid artery disorder MONDO:0005271 An immune response that occurs following re-exposure to an innocuous antigen, and that requires the presence of existing antibodies against that antigen. This response involves the binding of IgE to mast cells, and may worsen with repeated exposures. allergic disease or disorder allergic form of disease or disorder allergic form of immune system disease allergic reaction allergic response allergy disorder of type I hypersensitivity hypersensitivity reaction type I disease type I hypersensitivity disease allergic hypersensitivity disease hypersensitivity allergic disease MONDO:0005272 A myelodysplastic syndrome characterized by dysplasia seen in at least 10% of the early cells of 1 cell type (either red blood cells, white blood cells, or megakaryocytes) in the bone marrow. https://github.com/monarch-initiative/mondo/issues/5268 MDS with single lineage dysplasia MDS-SLD RA refractory anemia aregenerative anemia This disease was reclassified by the World Health Organization (WHO) in 2016. It was referred to as refractory cytopenia with unilineage dysplasia (RCUD) in the previous classification system. It includes refractory anemia (unilineage erythroid dysplasia), refractory neutropenia (unilineage dysgranulopoiesis), and refractory thrombocytopenia (unilineage dysmegakaryocytopoiesis). myelodysplastic syndrome with single lineage dysplasia MONDO:0005275 A disease involving the lung. disease of lung disease or disorder of lung disorder of lung lung disease lung disease or disorder lung disorder lung disorders pulmonary disease pulmonary diseases pulmonary disorder pulmonary disorders lung disorder MONDO:0005276 The decay of a tooth, in which it becomes softened, discolored, and/or porous. dental caries extending into pulp dental caries of smooth surface dental caries pit and fissure dental caries MONDO:0005277 A common, severe type of vascular headache often associated with increased sympathetic activity, resulting in nausea, vomiting, and light sensitivity. migraine migraine disorder migraine headache migraine variant migraine with or without aura migraine disorder MONDO:0005278 An adenocarcinoma that is characterized by the presence of papillary patterns and cellular budding. Psammoma bodies may be present. Representative examples include cervical serous adenocarcinoma, endometrial serous adenocarcinoma, ovarian serous adenocarcinoma, and primary peritoneal serous adenocarcinoma. serous adenocarcinoma serous carcinoma serous cystadenocarcinoma serous cystadenocarcinoma, NOS (morphologic abnormality) serous adenocarcinoma MONDO:0005279 The obstruction of the pulmonary artery or one of its branches by an embolus, sometimes associated with infarction of the lung. pulmonary embolism (disease) embolism, pulmonary pulmonary artery embolism pulmonary embolism pulmonary embolism (disease) pulmonary embolus pulmonary embolism MONDO:0005280 An infectious or non-infectious inflammatory process affecting the prostate gland. prostatitis (disease) inflammation of prostate gland prostate gland inflammation prostatitis prostatitis (disease) prostatitis MONDO:0005281 A disease involving the gall bladder. Gall bladder disorder disease of gall bladder disease or disorder of gall bladder disorder of gall bladder gall bladder disease gall bladder disease or disorder gallbladder disorder gallbladder disorder MONDO:0005282 An autoimmune disorder that manifests as different lupus-specific skin disorders; it can occur with systemic lupus erythematosus, or as a singular disease. lupus erythematosus, cutaneous cutaneous lupus erythematosus https://rarediseases.info.nih.gov/diseases/6225/cutaneous-lupus-erythematosus MONDO:0005283 Any disease or disorder of the retina. eye disease of retina retina eye disease retinopathy retinal disorder MONDO:0005284 A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914) chronic progressive multiple sclerosis MONDO:0005286 A benign or malignant neoplasm that affects the hard palate, soft palate, or uvula. neoplasm of palate neoplasm of secondary palate neoplasm of the palate palate neoplasm palate tumor secondary palate neoplasm secondary palate neoplasm (disease) secondary palate tumor tumor of palate tumor of secondary palate tumor of the palate palatal neoplasm MONDO:0005287 Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed) developmental disability MONDO:0005288 Discrete abnormal tissue masses that protrude into the lumen of the intestine. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base. intestinal polyp (disease) intestinal polyp intestinal polyp (disease) intestinal polyp MONDO:0005289 A benign or malignant neoplasm that affects the paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. paranasal sinus neoplasm (disease) accessory sinus neoplasm accessory sinus tumor neoplasm of accessory sinus neoplasm of paranasal sinus neoplasm of the accessory sinus neoplasm of the paranasal sinus paranasal sinus neoplasm paranasal sinus neoplasm (disease) paranasal sinus neoplasms paranasal sinus tumor tumor of accessory sinus tumor of paranasal sinus tumor of the accessory sinus tumor of the paranasal sinus paranasal sinus neoplasm MONDO:0005290 A clinical syndrome resulting from direct or indirect muscle injury and subsequent release of myoglobin into the plasma. rhabdomyolysis (disease) rhabdomyolysis rhabdomyolysis (disease) rhabdomyolysis MONDO:0005291 A congenital or acquired aneurysm within the cranium. brain aneurysm intracranial aneurysm brain aneurysm MONDO:0005292 Inflammation of the colon. colitis (disease) colitis colitis (disease) colon inflammation inflammation of colon colitis MONDO:0005293 An anatomic deformity in which the arch of the foot collapses, resulting in the entire sole of the foot coming into complete or near-complete contact with the ground. fallen Arch flat Foot flatfoot MONDO:0005294 Any disorder affecting blood flow through the veins or arteries outside of the heart. arterial occlusive disease disease, peripheral vascular peripheral vascular disorder vascular disease, peripheral peripheral vascular disease MONDO:0005295 A symptom complex characterized by pain and weakness in skeletal muscle group associated with exercise, such as leg pain and weakness brought on by walking. Such muscle limpness disappears after a brief rest and is often relates to arterial stenosis; muscle ischemia; and accumulation of lactate. Charcot's syndrome intermittent claudication intermittent vascular claudication MONDO:0005296 A disorder characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep. breathing-related sleep disorder SDB sleep apnea sleep apnea syndrome sleep apneas sleep disordered breathing sleep-disordered breathing apnea syndrome, sleep apnea syndromes, sleep apnea, sleep apneas, sleep breathing, sleep-disordered hypersomnia with periodic respiration hypopnea, sleep hypopneas, sleep mixed central and obstructive sleep apnea mixed sleep Apneas mixed sleep apnea sleep apnea, mixed sleep apnea, mixed central and obstructive sleep apneas, mixed sleep hypopnea sleep hypopneas sleep apnea syndrome MONDO:0005297 Inflammation of the urethra. urethritis (disease) inflammation of urethra non-gonococcal urethritis urethra inflammation urethritis urethritis (disease) Nongonococcal urethritis urethritis MONDO:0005298 A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss). https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 bone mineral density variation QTL, osteoporosis osteoporosis, postmenopausal osteoporosis, postmenopausal, susceptibility osteoporosis, susceptibility to fracture, hip, susceptibility to osteoporosis, involutional osteoporosis MONDO:0005299 Diminished or absent blood supply to the brain caused by obstruction (thrombosis or embolism) of an artery resulting in neurologic damage. brain ischemia brain ischemic disease cerebrovascular ischemia ischaemic encephalopathy ischemia cerebrovascular ischemic disease of brain ischemic encephalopathy brain ischemia MONDO:0005300 Impairment of the renal function secondary to chronic kidney damage persisting for three or more months. CKD CKD - chronic kidney disease chronic kidney disease chronic renal disease kidney disease, chronic renal failure - chronic chronic renal failure syndrome chronic renal insufficiency chronic kidney disease MONDO:0005301 A progressive autoimmune disorder affecting the central nervous system resulting in demyelination. Patients develop physical and cognitive impairments that correspond with the affected nerve fibers. generalized multiple sclerosis insular sclerosis multiple sclerosis MONDO:0005302 A mental disorder characterized by inattention, easy distraction, careless mistakes and avoidance of tasks that require sustained mental focus. These behaviors can lead to maladaptive consequences in the affected individual's life. ADD ADHD attention deficit disorder attention deficit hyperactivity disorder, inattentive/distractible type attention deficit hyperactivity disorder, predominantly inattentive type hyperkinetic disorder attention deficit hyperactivity disorder, inattentive type MONDO:0005303 Drug dependence - replaced the term "drug addiction" and is defined as a state, psychic and sometimes also physical, resulting from the interaction between a living organism and a drug, characterized by behavioral and other responses that always include a compulsion to take the drug on a continuous or periodic basis in order to experience its psychic effects, and sometimes to avoid the discomfort of its absence. Tolerance may or may not be present. A person may be dependent on more than one drug. chemical dependence drug dependence MONDO:0005304 A neoplasm that involves the biliary tract. https://github.com/monarch-initiative/mondo/issues/3673 biliary tract neoplasm (disease) biliary tract neoplasm biliary tract neoplasm (disease) biliary tree neoplasm biliary tree neoplasm (disease) biliary tree tumor neoplasm of biliary tree neoplasm of extrahepatic bile ducts tumor of biliary tree biliary tract neoplasm MONDO:0005306 An autoimmune chronic inflammatory disorder characterized by inflammation in the vertebral joints of the spine and sacroiliac joints. It predominantly affects young males. Patients present with stiffness and pain in the spine. Bekhterev syndrome Bekhterev's disease Marie-Strumpell disease ankylosing spondylarthritis ankylosing spondylitis MONDO:0005307 Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint. muscle contracture contracture MONDO:0005308 A genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function. ciliopathy ciliopathies ciliopathy MONDO:0005309 Traumatic or pathological injury to the spine in which the continuity of a vertebral bone is broken. Symptoms include back pain and difficulty bending and twisting. bone fracture of vertebral column vertebral column bone fracture spinal fracture MONDO:0005310 A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate of 240-340 beats per minute. Multiple P waves typically appear in the inferior leads in a saw tooth-like pattern between the QRS complexes. (CDISC) atrial flutter (disease) atrial flutter atrial flutter (disease) atrial flutter MONDO:0005311 Build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. atherosclerosis of artery atherosclerotic cardiovascular disease atherosclerosis artery Note that NCIT distinguishes between atherosclerotic cardiovascular disease and atherosclerosis - we merge these here atherosclerosis MONDO:0005312 Acute inflammation in the intestinal mucosa of the continent ileal reservoir (or pouch) in patients who have undergone ileostomy and restorative proctocolectomy (proctocolectomy, restorative). pouchitis MONDO:0005313 Necrotizing enterocolitis (NEC) is a devastating disease that affects mostly the intestine of premature infants. The wall of the intestine is invaded by bacteria, which cause local infection and inflammation that can ultimately destroy the wall of the bowel (intestine). Such bowel wall destruction can lead to perforation of the intestine and spillage of stool into the infant's abdomen, which can result in an overwhelming infection and death. NEC necrotizing enterocolitis necrotizing enterocolitis in fetus or newborn necrotizing enterocolitis MONDO:0005314 The most common clinical variant of multiple sclerosis, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see optic neuritis), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914) RRMS Relapsing-remitting MS relapsing-remitting multiple sclerosis MONDO:0005315 Breaks in bones. fracture fracture of bone fracture(s) bone fracture MONDO:0005316 Infection caused by bacterial overgrowth in the vagina. Most affected women are asymptomatic. When symptoms occur, they include foul-smelling vaginal discharge, vaginal itching, and burning. Risk factors include sexual activity with multiple partners and the use of vaginal douches and intrauterine devices. Up to a third of cases resolve without treatment. Antibiotic treatment is recommended when symptoms are present and for women that are pregnant at the time of infection. BV bacterial vaginosis MONDO:0005318 A type of stomatitis that is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring. It is a recurrent disease of the oral mucosa of unknown etiology. aphthous ulcer canker sore aphthous stomatitis canker sore MONDO:0005319 A traumatic or pathologic injury to the humerus in which the continuity of the humerus is broken. fracture, humeral fractures, humeral humeral fracture humerus fracture MONDO:0005320 Traumatic or pathological injury to the tibia in which the continuity of the bone is broken. bone fracture of tibia tibia bone fracture tibia fracture MONDO:0005321 Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity. Endoepithelial corneal dystrophy FCED FECD Fuchs endothelial dystrophy Fuchs' corneal dystrophy Fuchs' endothelial corneal dystrophy corneal dystrophy, Fuchs endothelial late hereditary endothelial dystrophy Fuchs endothelial corneal dystrophy Fuchs' endothelial dystrophy MONDO:0005322 Fractures of the larger bone of the forearm. bone fracture of ulna ulna bone fracture ulna fracture MONDO:0005323 Bacterial diseases that are potentially transmitted or propagated by sexual conduct. bacterial sexually transmitted disease MONDO:0005324 Allergic rhinitis caused by outdoor allergens. hay fever seasonal allergic rhinitis seasonal allergic rhinitis MONDO:0005325 Traumatic or pathological injury to the radius bone in which the continuity of the bone is broken. radius fracture MONDO:0005326 An inflammatory reaction from ultraviolet radiation characterized by transient redness, tenderness and occasional blistering. sunburn MONDO:0005327 Traumatic or pathological injury to the hip in which the continuity of either the femoral head, femoral neck, intertrochanteric or subtrochanteric regions is broken. Symptoms include pain in the hip or groin, bruising and swelling in and around the hip area. The injured hip is turned outward and the leg appears shorter on that side. hip fracture MONDO:0005328 A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma. https://github.com/monarch-initiative/mondo/issues/5166 disease of eye disease of eyeball of camera-type eye disease or disorder of eyeball of camera-type eye disorder of eye disorder of eyeball of camera-type eye eye disease eye disorder eyeball of camera-type eye disease eyeball of camera-type eye disease or disorder globe disease disease of eyeball disorder of eye proper disorder of eyeball disorder of globe eye disorder MONDO:0005333 Abnormally elevated thyroxine level in the blood. hyperthyroxinemia MONDO:0005334 A group of inherited conditions characterized initially by hematuria and slowly progressing to renal insufficiency. The most common form is the Alport syndrome (hereditary nephritis with hearing loss) which is caused by mutations in genes for type IV collagen and defective glomerular basement membrane. hereditary nephritis familial nephritis nephritis, familial hereditary nephritis MONDO:0005335 A benign or malignant neoplasm that affects the colon or rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colorectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms. colorectal neoplasm colorectal tumor colorectum neoplasm colorectum neoplasm (disease) colorectum tumor large bowel neoplasm large bowel tumor large intestinal neoplasm large intestine neoplasm large intestine tumor neoplasm of colorectum neoplasm of large bowel neoplasm of the large bowel tumor of colorectum tumor of large bowel tumor of the large bowel colorectal neoplasm MONDO:0005336 A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness. Editor note: TODO check this, relationship to myotonic disorder/syndrome, also check HP definition myopathy MONDO:0005338 Chronic outflow obstruction of the eye's drainage canals that can lead to increased internal eye pressure and optic nerve damage. https://github.com/monarch-initiative/mondo/issues/2507 POAG glaucoma simplex glaucoma, primary open angle open angle glaucoma pigmentary glaucoma primary open angle glaucoma wide-angle glaucoma open-angle glaucoma MONDO:0005339 alopecia androgenetica, male pattern baldness androgenetic alopecia male pattern baldness androgenic alopecia androgenetic alopecia MONDO:0005340 Loss of scalp and body hair involving microscopically inflammatory patchy areas. alopecia areata circumscribed alopecia alopecia circumscripta patchy loss of hair alopecia areata MONDO:0005341 The most frequently seen skin cancer. It arises from basal cells of the epidermis and pilosebaceous units. Clinically it is divided into the following types: nodular, ulcerative, superficial, multicentric, erythematous, and sclerosing or morphea-like. More than 95% of these carcinomas occur in patients over 40. They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck and the remaining 15% on the trunk and extremities. Basal cell carcinoma usually grows in a slow and indolent fashion. However, if untreated, the tumor may invade the subcutaneous fat, skeletal muscle and bone. Distant metastases are rare. Excision, curettage and irradiation cure most basal cell carcinomas. BCC basal cell cancer basal cell carcinoma basal cell tumor basal cell carcinoma of skin basal cell carcinoma of the skin basal cell epithelioma basal cell skin carcinoma skin basal cell cancer skin basal cell carcinoma epithelioma basal cell skin basal cell carcinoma MONDO:0005342 Inflammation of a specific segment of glomeruli within the kidney. IgA glomerulonephritis IgA nephropathy berger's IgA or IgG nephropathy berger's disease focal glomerulonephritis primary IgA nephropathy segmental glomerulonephritis IgA glomerulonephritis MONDO:0005344 A viral infection caused by the hepatitis B virus. Hepatitis B Hepatitis B infection Hepatitis B virus caused hepatitis Hepatitis B virus hepatitis hepatitis B infection hepatitis type B viral Hepatitis B chronic hepatitis B serum hepatitis hepatitis B virus infection MONDO:0005345 Hypospadias is the displacement of the urethral meatus on the ventrum of the penis. This abnormality is associated with a varyingly bent, twisted penis and opened dorsal prepuce. hypospadias (disease) familial hypospadias hypospadias hypospadias (disease) hypospadias familial hypospadias MONDO:0005346 Solid crystalline precipitates in the biliary tract, usually formed in the gallbladder, resulting in the condition of cholelithiasis. Gallstones, derived from the bile, consist mainly of calcium, cholesterol, or bilirubin. gallstones MONDO:0005347 A laboratory test result indicating elevated triglyceride concentration in the blood. hypertriglyceridemia (disease) hypertriglyceridemia hypertriglyceridemia (disease) hypertriglyceridemia MONDO:0005348 An irregularly shaped, elevated mark on the skin caused by deposits of excessive amounts of collagen during wound healing. It extends beyond the original boundaries of the wound and may enlarge progressively. keloid MONDO:0005349 Formation of spongy bone in the labyrinth capsule which can progress toward the stapes (stapedial fixation) or anteriorly toward the cochlea leading to conductive, sensorineural, or mixed hearing loss. Several genes are associated with familial otosclerosis with varied clinical signs. otosclerosis (disease) otosclerosis otosclerosis (disease) otosclerosis MONDO:0005350 Enlargement and ballooning of the vessel that supplies arterial blood to the abdomen, pelvis and legs. aortic aneurysm, familial abdominal 1 abdominal aortic aneurysm MONDO:0005351 A disorder most often seen in adolescent females characterized by a refusal to maintain a minimally normal body weight, an intense fear of gaining weight, a disturbance in body image, and, in postmenarcheal females, the development of amenorrhea. anorexia nervosa MONDO:0005352 A disorder diagnosed in childhood or adolescence age group characterized by aggressive behavior, deceitfulness, destruction of property or violation of rules that is persistent and repetitive, and within a one year period. conduct disorder MONDO:0005354 Chronic form of hepatitis C infection. chronic Hepatitis C hepatitis C infection, chronic hepatitis C, chronic chronic hepatitis C virus infection MONDO:0005355 Recurrent narrowing or constriction of a coronary artery following surgical procedures performed to alleviate a prior obstruction. coronary restenosis MONDO:0005356 Sudden coronary artery smooth muscle contraction leading to lumen constriction and decreased blood flow. coronary artery spasm coronary vasospasm coronary artery vasospasm coronary vasospasm MONDO:0005357 A rare transmittable degenerative disorder of the brain caused by prions. Morphologically it is characterized by spongiform degeneration of the cerebral and cerebellar cortex. Signs and symptoms include sleep disturbances, personality changes, aphasia, ataxia, muscle atrophy and weakness, visual loss, and myoclonus. It usually leads to death within a year from the onset of the disease. CJD CJD (Creutzfeldt Jakob disease) Creutzfeldt Jacob syndrome Creutzfeldt Jakob disease Creutzfeldt-Jacob disease Jakob-Creutzfeldt disease Subacute spongiform encephalopathy classic Creutzfeldt-Jakob disease transmissible virus dementia Creutzfeldt-Jakob disease Creutzfeldt Jacob disease MONDO:0005358 A serious condition caused by Dengue virus infection. Patients present with an acute febrile illness followed by restlessness, irritability, and bleeding. It may lead to hemorrhagic shock and death. DHF Dengue haemorrhagic fever Dengue hemorrhagic fever MONDO:0005359 A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to acute liver failure, caused by drugs, drug metabolites, and chemicals from the environment. drug induced hepatotoxicity drug-induced disorder of liver drug-induced liver injury MONDO:0005361 Eosinophilic esophagitis (EoE) is a chronic, allergic disease of the esophagus characterized clinically by symptoms of esophageal dysfunction (including vomiting, dysphagia, feeding disorders, food impaction and abdominal pain) which persist after treatment with proton pump inhibitors (PPIs). EoE eosinophilic esophagitis MONDO:0005362 Persistent or recurrent inability to achieve or to maintain an erection during sexual activity. erectile dysfunction (disease) erectile dysfunction erectile dysfunction (disease) male erectile Disorder sexual impotence sexual impotence (finding) dysfunction, erectile impotence impotence, male impotence, male sexual male impotence male sexual impotence sexual impotence, Male erectile dysfunction MONDO:0005363 A renal disorder characterized by sclerotic lesions in the glomeruli. Causes include drugs, viruses, and malignancies (lymphomas), or it may be idiopathic. It presents with asymptomatic proteinuria or nephritic syndrome and it may lead to renal failure. FGS FGS (focal glomerular sclerosis) FSGS FSGS - focal segmental glomerulosclerosis focal glomerular sclerosis focal glomerulosclerosis focal segmental glomerulosclerosis MONDO:0005364 Graves' disease is an autoimmune disorder that leads to overactivity of the thyroid gland (hyperthyroidism).It is caused by an abnormal immune system response that causes the thyroid gland to produce too much thyroid hormones. Graves disease is the most common cause of hyperthyroidism andoccurs mostoften in women over age 20. However, the disorder may occur at any age and may affect males as well.Treatmentmayinclude radioiodine therapy, antithyroid drugs, and/or thyroid surgery. Graves disease exophthalmic goiter grave's disease Basedow disease Basedow's disease Graves' disease Graves' hyperthyroidism parry disease Graves disease https://rarediseases.info.nih.gov/diseases/6549/graves-disease MONDO:0005365 A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central. hearing loss hypoacuses hypoacusis loss of hearing loss, hearing deafness hearing impairment hearing loss disorder MONDO:0005366 Chronic form of hepatitis B infection. chronic Hepatitis B hepatitis B infection, chronic hepatitis B, chronic chronic hepatitis B virus infection MONDO:0005367 Physical and psychological dependence on the drug heroin. Heroin addiction heroin dependence MONDO:0005369 A slow growing neuroendocrine tumor, composed of uniform, round, or polygonal cells having monotonous, centrally located nuclei and small nucleoli, infrequent mitoses, and no necrosis. The tumor may show a variety of patterns, such as solid, trabecular, and acinar. Electron microscopy shows small secretory granules. Immunohistochemical studies reveal NSE, as well as chromogranin immunoreactivity. Malignant histology (cellular pleomorphism, hyperchromatic nuclei, prominent nucleoli, necrosis, and mitoses) can occasionally be seen. Such cases may have an aggressive clinical course. Gastrointestinal tract and lung are common sites of involvement. carcinoid tumor (disease) NET G1 carcinoid carcinoid tumor carcinoid tumor (disease) neuroendocrine neoplasm G1 neuroendocrine tumor G1 Editor note: In NCIT all carcinoid tumors are grade 1, but the name is sometimes used more broadly in other sources carcinoid tumor MONDO:0005371 A cognitive disorder a disturbance in which the person's mood is hypothesized to be the main underlying feature. episodic mood disorder mood disorder MONDO:0005372 The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility. infertility disorder of male reproductive system male reproductive system infertility male reproductive system infertility disorder male infertility MONDO:0005373 Infections with bacteria of the species neisseria meningitidis. Neisseria meningitidis infection infections, Neisseria meningitidis meningococcal disease meningococcal infection https://rarediseases.info.nih.gov/diseases/9547/meningococcal-infection MONDO:0005374 Neoplasms that affect the bone marrow. Such neoplasms may arise in the bone marrow (e.g. myeloid leukemias) or may involve the bone marrow as secondary, metastatic tumors (e.g. metastatic carcinomas to the bone marrow). bone marrow neoplasm bone marrow neoplasm (disease) bone marrow tumor neoplasm of bone marrow tumor of bone marrow bone marrow cancer malignant bone marrow tumor bone marrow neoplasm MONDO:0005375 A benign or malignant neoplasm affecting the nasopharynx. Representative examples of benign neoplasms include angiofibroma and squamous papilloma. Representative examples of malignant neoplasms include keratinizing squamous cell carcinoma and nonkeratinizing carcinoma. nasopharyngeal neoplasms nasopharyngeal tumor nasopharynx neoplasm nasopharynx neoplasm (disease) nasopharynx tumor neoplasm of nasopharynx neoplasm of the nasopharynx tumor of nasopharynx tumor of the nasopharynx nasopharyngeal neoplasm MONDO:0005376 A slowly progressive inflammation of the glomeruli characterized by immune complex deposits at the glomerular basement membrane, resulting in a thickened membrane, and nephrotic syndrome. membranous Glomerulonephropathy membranous nephropathy membranous glomerulonephritis MONDO:0005377 A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction. nephrotic syndrome nephrotic syndromes syndrome, nephrotic syndromes, nephrotic nephrosis nephrotic syndrome MONDO:0005379 A form of functional mental illness that manifests in distressed emotional reactions such as anxiety, obsessive thoughts, compulsive behaviors, or irrational fears. neurosis neurotic disorder psychoneurosis depressive neurosis neurotic depression neurotic depression reactive type neurotic depressive state psychoneurosis NOS reactive depression Psychoneuroses disorder, neurotic disorders, neurotic neuroses neurotic disorder MONDO:0005380 A none disease characterized by death of bone tissue due to a lack of blood supply. aseptic necrosis bone necrosis ischemic bone disease osteonecrosis osteonecrosis MONDO:0005381 Diseases of bones. bone element disease bone element disease or disorder disease of bone element disease or disorder of bone element disorder of bone element rare bone disease related to a common gene or pathway defect skeletal disease bone disorder MONDO:0005382 A disease of bone that initially results in the excessive resorption of bone (by osteoclasts) followed by the replacement of normal bone marrow with vascular and fibrous tissue. Paget disease of bone Paget's bone disease Paget's disease of bone Paget's disease of the bone Pagets disease (bone) bone Paget disease bone Paget's disease osseous Paget's disease osteitis deformans Paget's disease familial Paget's disease of bone bone Paget disease MONDO:0005383 An anxiety disorder characterized by multiple unexpected panic attacks with persistent concern of recurring attacks. Panic disorder may or may not be accompanied by agoraphobia. panic anxiety syndrome panic disorder MONDO:0005384 A seizure caused by a localized disorder. https://github.com/monarch-initiative/mondo/issues/5564 focal epilepsy localisation-related epilepsy partial epilepsy The updated term for partial epilepsy is now focal epilepsy, according to the International League Against Epilepsy Nosology and Definitions Taskforce [PMID:35503725, PMID:28276062]. focal epilepsy MONDO:0005385 A general term used to describe any disease affecting blood vessels]. It includes vascular abnormalities caused by degenerative, metabolic and inflammatory conditions, embolic diseases, coagulative disorders, and functional disorders such as posteri or reversible encephalopathy syndrome. https://github.com/monarch-initiative/mondo/issues/3602 disease of vasculature disease or disorder of vasculature disorder of vasculature vascular disorder vascular tissue disease vasculature disease vasculature disease or disorder vasculopathy The etiology of vasculopathy is generally unknown and the condition is frequently not pathologically proven. Vasculitis, on the other hand, is a more specific term and is defined as inflammation of the wall of a blood vessel. However, the term vasculopathy is also used for “vasculitis” that has not been pathologically established. vascular disorder MONDO:0005386 A disorder of the arteries supplying the upper and lower extremity and the visceral organs. This includes the mesenteric arteries, the renal arteries and the aorta and excludes cerebrovascular arterial disease. Patients experience cramping and pain usually in the calves and thighs while walking. The symptoms subside with rest. pad peripheral arterial disorder peripheral artery disease peripheral arterial disease MONDO:0005387 Absent or premature cessation of ovarian function due to a pathologic process originating within the ovaries. primary ovarian failure primary ovarian insufficiency female hypergonadotropic hypogonadism hypergonadotrophic ovarian failure hypergonadotropic hypogonadism hypergonadotropic hypogonadism (female) premature menopause premature ovarian failure premature ovarian insufficiency primary female hypogonadism primary ovarian failure MONDO:0005388 Primary biliary cholangitis (PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver failure. Hanot syndrome PBC biliary liver cirrhosis cholestatic cirrhosis chronic non-suppurative destructive cholangitis chronic nonsuppurative destructive cholangitis primary Bilary cirrhosis (PBC) primary biliary cirrhosis biliary cirrhosis, primary familial primary biliary cirrhosis primary biliary cholangitis MONDO:0005391 A condition that occurs while resting or lying in bed; it is characterized by an irresistible urgency to move the legs to obtain relief from a strange and uncomfortable sensation in the legs. RLS WED Willis-Ekbom disease Wittmaack-Ekbom syndrome restless leg syndrome restless legs syndrome MONDO:0005392 A congenital or acquired spinal deformity characterized by lateral curvature of the spine. scoliosis MONDO:0005393 A condition characterized by painful swelling of the joints, which is caused by deposition of urate crystals. chronic gout tophaceous disease tophaceous gout articular gout gout gouty arthritis gouty arthropathy gout MONDO:0005394 Tissue necrosis in any area of the brain, including the cerebral hemispheres, the cerebellum, and the brain stem. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by hypoxia and hypoglycemia in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis. brain infarction MONDO:0005395 Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement. movement disease movement disorder movement disorders movement disorder MONDO:0005396 An aneurysm formed in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta. thoracic aortic aneurysm MONDO:0005397 Enlargement of the thyroid gland usually caused by lack of iodine in the diet, hyperthyroidism, or thyroid nodules. Symptoms include difficulty in breathing and swallowing. goiter (disease) Thyromegaly goiter goiter (disease) goitre goiter MONDO:0005398 Soft tissue tumors or cancer arising from the mucosal surfaces of the lip; oral cavity; pharynx; larynx; and cervical esophagus. Other sites included are the nose and paranasal sinuses; salivary glands; thyroid gland and parathyroid glands; and melanoma and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651) upper aerodigestive tract neoplasm MONDO:0005399 Occlusion of the lumen of a vein by a thrombus that has migrated from a distal site via the blood stream. venous thromboembolism venous thromboembolism MONDO:0005401 A benign or malignant neoplasm that affects the colon. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colonic adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms. colon neoplasm colon neoplasm (disease) colon tumor colonic neoplasm colonic tumor neoplasm of colon neoplasm of the colon tumor of colon tumor of the colon colonic neoplasm MONDO:0005402 A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias. lymphoid leukemia (disease) leukemia, LYMPHOCYTIC, malignant lymphocytic leukemia lymphogenous leukemia lymphoid leukemia lymphoid leukemia (disease) subacute lymphoid leukemia lymphoid leukemia MONDO:0005404 A medical condition characterized by long-term fatigue and other symptoms that limit a person's ability to carry out ordinary daily activities. CFS Postviral fatigue syndrome chronic fatigue immune dysfunction syndrome chronic fatigue syndrome myalgic encephalitis myalgic encephalomyelitis systemic exertion intolerance disease myalgic encephalomeyelitis/chronic fatigue syndrome MONDO:0005405 Asthma that starts in childhood. asthma of childhood childhood asthma pediatric asthma childhood onset asthma MONDO:0005406 Carbohydrate intolerance first diagnosed during pregnancy. GDM diabetes in pregnancy gestational diabetes mellitus maternal gestational diabetes mellitus gestational diabetes MONDO:0005407 An eosinophilic esophagitis that starts in childhood. eosinophilic esophagitis of childhood pediatric eosinophilic esophagitis childhood eosinophilic esophagitis MONDO:0005408 Diabetic cataracts are thought to be caused by hyperglycemia associated with disturbed glucose metabolism diabetes mellitus type 2 associated cataract MONDO:0005411 A malignant neoplasm involving the gall bladder gallbladder neoplasm tumor of the gallbladder cancer of gall bladder gall bladder cancer gallbladder Ca malignant gall bladder neoplasm malignant gallbladder neoplasm malignant gallbladder tumor malignant neoplasm of gall bladder malignant neoplasm of gallbladder malignant neoplasm of the gallbladder malignant tumor of gallbladder malignant tumor of the gallbladder malignant tumour of gallbladder localized malignant gallbladder neoplasm gallbladder cancer MONDO:0005412 An ulcer in the duodenal wall. duodenal ulcer (disease) curling Ulcer curling's ulcers duodenal ulcer (disease) stress Ulcer duodenal ulcer MONDO:0005413 Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis. In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosis. The presence of meconium ileus is not related to the severity of the cystic fibrosis. cystic fibrosis associated meconium ileum cystic fibrosis associated meconium ileus MONDO:0005414 Schizophrenia which does not respond to commonly used treatments. TRS refractory schizophrenia treatment-refractory schizophrenia treatment-refractory schizophrenia MONDO:0005416 Noninflammatory degenerative disease of the knee joint consisting of three large categories: conditions that block normal synchronous movement, conditions that produce abnormal pathways of motion, and conditions that cause stress concentration resulting in changes to articular cartilage. (Crenshaw, Campbell's Operative Orthopaedics, 8th ed, p2019) osteoarthritis, knee MONDO:0005417 A form of RETINAL degeneration in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision. Senile macular degeneration, wet exudative senile macular degeneration of retina neovascular age-related macular degeneration wet AMD wet ARMD wet age related macular degeneration wet senile macular retinal degeneration Kuhnt-Junius degeneration wet macular degeneration MONDO:0005418 Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates. non-compaction cardiomyopathy MONDO:0005419 A drug dependence that is a psychological dependency on the regular use of metamphetamine. metamphetamine dependence MONDO:0005420 Abnormally low levels of thyroid hormone. hypothyroidism thyroid deficiency thyroid insufficiency underactive thyroid hypothyroid hypothyroidism MONDO:0005424 Enlargement of an area of the body due to obstruction within the lymphatic system and the resulting accumulation of lymph. elephantiasis MONDO:0005425 A disease of the lymphatic vessels of the lower extremities that is caused by chronic exposure to irritant soils. elephantiasis from soil non-filarial elephantiasis nonfilarial elephantiasis soil elephantiasis podoconiosis MONDO:0005426 An infarct detected by MRI and not determined to be clinically significant This term represents a finding not a disease, it may be obsoleted in future MRI defined brain infarct MONDO:0005429 A transmissible disease that is caused by a protein that is able to induce abnormal folding of normal cellular proteins, leading to characteristic spongiform brain changes, which are associated with neuronal loss without an inflammatory response. Such disorders have typically long incubation periods, but are then generally rapidly progressive and are uniformly fatal. prion disease pathway prion induced disorder prion protein disease spongiform encephalopathy Editor note: check relationship to spongiform encephalopathy NCIT:C27585 prion disease MONDO:0005430 A form of hypertension with early onset relative to normal range for a given population. early onset hypertension MONDO:0005432 A drug dependence that is the physiological result of being addicted to alcohol and nicotine. alcohol and nicotine codependence MONDO:0005433 alcohol withdrawal syndrome alcohol withdrawal MONDO:0005434 The response of human skin to sun exposure. Editor note: TODO https://github.com/EnvironmentOntology/envo/issues/587 skin sensitivity to sun MONDO:0005435 Group of systemic vasculitis with a strong association with ANCA. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls. anti-neutrophil antibody associated vasculitis MONDO:0005436 Postoperative ventricular dysfunction (VnD) occurs in 9-20% of coronary artery bypass graft (CABG) surgical patients and is associated with increased postoperative morbidity and mortality. postoperative ventricular dysfunction MONDO:0005437 A syndrome comprising testicular germ cell cancer, cryptorchidism and some cases of hypospadias and male infertility with impaired development of the testis. testicular dysgenesis syndrome MONDO:0005438 The spread of a malignant neoplasm to the lymph nodes. Metastases to lymph nodes metastasis to lymph node metastatic malignant neoplasm to the lymph nodes metastatic neoplasm to the lymph node metastatic tumor to lymph node metastatic malignant neoplasm in the lymph nodes MONDO:0005439 An inheritable form of hyperlipidemia, in which there are excess lipids in the blood. Fredrickson type IIa hyperlipoproteinemia Fredrickson type IIa lipidaemia familial hyperbetalipoproteinaemia familial hypercholesteremia hyperbetalipoproteinemia hyperlipoproteinemia type II type II hyperlipidemia Editor note: TODO check xrefs familial hypercholesterolemia MONDO:0005440 A non-seminomatous malignant germ cell tumor characterized by the presence of large germ cells with abundant cytoplasm resembling epithelial cells, geographic necrosis, high mitotic activity, and pseudoglandular and pseudopapillary structures formation. It can arise from the testis, ovary, and extragonadal sites (central nervous system and mediastinum). carcinoma, embryonal, malignant embryonal carcinoma primary extragonadal embryonal carcinoma Editor note: TODO check classification w.r.t carcinoma embryonal carcinoma https://rarediseases.info.nih.gov/diseases/5140/embryonal-carcinoma MONDO:0005441 Inflammation of the anatomical structures of the middle ear, which is most often caused by an infectious process. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever. otitis media (disease) inflammation of middle ear medial otitis middle Ear Inflammation middle ear inflammation otitis Media otitis media (disease) otitis media MONDO:0005445 A severe form of leishmaniasis characterized by irregular bouts of fever, substantial weight loss, swelling of the spleen and liver, and anaemia (which may be serious). If left untreated it may lead to death. Two species of Leishmania are known to give rise to the visceral form of the disease. The species commonly found in East Africa and the Indian subcontinent is L. donovani and the species found in Europe, North Africa, and Latin America is L. infantum, also known as L. chagasi. infection by visceral leishmaniasis kala-azar viscus leishmaniasis kala-azar susceptibility kala-azar, susceptibility to Editor note: split out susceptibility/PS visceral leishmaniasis MONDO:0005446 Leishmaniasis affecting the skin. It is the most common form of leishmaniasis. It presents with erythematous macules and papules, and nodules which may eventually ulcerate. The lesions appear in the bite site in the exposed skin areas. Asian desert cutaneous leishmaniasis leproid leishmaniasis zone of skin leishmaniasis cutaneous leishmaniasis MONDO:0005447 A primary or metastatic malignant neoplasm that affects the testis. Representative examples include seminoma, embryonal carcinoma, sarcoma, leukemia, and lymphoma. testicular tumor testis neoplasm cancer of testis malignant neoplasm of testis malignant neoplasm of the testis malignant testicular neoplasm malignant testicular tumor malignant testis neoplasm malignant tumor of testis malignant tumor of the testis testis cancer testicular cancer MONDO:0005448 Liver injury resulting from hepatitis C infection. hepatitis C induced liver cirrhosis MONDO:0005449 A disease involving the conducting system of heart. conducting system of heart disease conducting system of heart disease or disorder disease of conducting system of heart disease or disorder of conducting system of heart disorder of conducting system of heart conduction system disorder MONDO:0005451 A broad group of psychological disorders with abnormal eating behaviors leading to physiological effects from overeating or insufficient food intake. eating disorder feeding and eating disorder eating disorder MONDO:0005452 A disorder characterized by recurrent episodes of binge-eating over which the individual feels a lack of control; these episodes of binge-eating are followed by recurrent compensatory behavior to prevent weight gain, usually self-induced vomiting. In addition, self-evaluation is unduly influenced by body image. bulimia hyperorexia nervosa bulimia nervosa MONDO:0005453 A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale. heart malformation congenital anomaly of heart congenital heart defect congenital heart defects heart defect Abnormality, heart abnormalities, heart defect, congenital heart defects, congenital heart heart abnormalities heart abnormality heart defect, congenital heart, malformation Of heart-congenital defect congenital heart disease MONDO:0005454 A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma. lung NET lung neuroendocrine neoplasm lung neuroendocrine tumor lung neuroendocrine tumor, well differentiated, low or intermediate grade neuroendocrine neoplasm of lung neuroendocrine neoplasm of the lung pulmonary neuroendocrine neoplasm pulmonary neuroendocrine tumor lung neuroendocrine neoplasm MONDO:0005459 A parasitic disorder caused by protozoa of the Trypanosoma brucei species. It is transmitted by flies and is endemic in various regions of Sub-Saharan Africa. Signs and symptoms include fever, joint pain, headache, and significant swelling of the lymph nodes. If left untreated, the parasitic infection causes anemia, heart, kidney, and endocrine failure, and neurologic damage. Subsequently patients develop confusion, disruption of the sleep cycle, and mental deterioration. The infection may lead to coma and death. Africam sleeping sickness African sleeping sickness African trypanosomiasis sleeping sickness human African trypanosomiasis MONDO:0005460 An acute viral respiratory infection caused by a strain of influenza virus which is endemic in swine (pigs). Rarely reported in humans prior to 2009, the disease is caused by a mutated strain of swine influenza A (H1N1) virus. It is highly contagious and spreads mainly through coughing and sneezing. Signs and symptoms include fever, chills, coughing, sore throat headache, muscle ache, and generalized weakness. Antiviral medications are most effective in the first two days of the illness. H1N1 Influenza H1N1 Virus infection H1N1 flu Influenza A (H1N1) Influenza A (H1N1) Virus infection Swine influenza virus caused influenza Swine influenza virus influenza swine flu swine influenza MONDO:0005461 An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma. endometrioid carcinoma of endometrium adenocarcinoma of endometrium adenocarcinoma of the endometrium adenocarcinoma of uterus adenocarcinoma, endometrial, malignant endometrial adenoacanthoma endometrial adenocarcinoma endometrial endometrioid adenocarcinoma with squamous differentiation endometrioid adenoma or carcinoma endometrioid adenoma or carcinoma NOS (morphologic abnormality) endometrioid adenomas and carcinomas endometrioid adenomas and carcinomas (morphologic abnormality) endometrium adenocarcinoma endometrial endometrioid adenocarcinoma endometrium adenocarcinoma MONDO:0005462 A malignant neoplasm that originates in the neuroectoderm. The neuroectoderm constitutes the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems and includes some glial cell precursors. PNET neuroectodermal neoplasm neuroectodermal tumor primitive neuroectodermal neoplasm primitive neuroectodermal tumor primitive neuroectodermal tumor (PNET) neuroepithelioma Editor note: TODO check relationship to neuroepithelioma primitive neuroectodermal tumor MONDO:0005463 Calcification of the aortic valve aortic valve calcification (disease) aortic valve calcification aortic valve calcification (disease) aortic valve calcification MONDO:0005464 Retinal detachment secondary to retinal tear or break. rhegmatogenous retinal detachment MONDO:0005465 Abnormal mental state resulting from an abuse of methamphetamine methamphetamine-induced psychosis MONDO:0005466 A sleep disorder characterized by excessive sleepiness. hypersomnia (disease) hypersomnia hypersomnia (disease) hypersomnia MONDO:0005467 The response people may have when presented with work demands and pressures that are not matched to their knowledge and abilities and which challenge their ability to cope. https://github.com/monarch-initiative/mondo/issues/3061 occupation-related stress disorder MONDO:0005468 Blood pressure that is abnormally low. hypotension hypotension (disease) hypotensive disorder MONDO:0005469 Sudden fall of the blood pressure of at least 20/10 mm Hg when a person stands up. orthostatic hypotension (disease) orthostatic hypotension orthostatic hypotension (disease) orthostatic hypotension MONDO:0005470 Drastic decline in blood pressure which happens after eating a meal and most likely due to insufficient compensation in cardiac output by the autonomic nervous sytem for the diversion of blood to the intestines. postprandial hypotension MONDO:0005471 Neurally mediated hypotension is a sudden drop in blood pressure while an individual stands up. It occurs when there is an abnormal reflex interaction between the heart and the brain, both of which usually are structurally normal neurally mediated hypotension MONDO:0005473 Any condition affecting the anatomic and functional characteristics of the temporomandibular joint. TMD temporomandibular joint disorder MONDO:0005475 A migraine disorder characterized by episodes that are preceded by focal neurological symptoms. classic migraine migraine with aura MONDO:0005476 A disease involving the atrioventricular node. atrioventricular node disease atrioventricular node disease or disorder disease of atrioventricular node disease or disorder of atrioventricular node disorder of atrioventricular node atrioventricular node disorder MONDO:0005477 A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). The QRS complexes are wide and have an abnormal morphology. (CDISC) ventricular tachycardia MONDO:0005478 A malignant form of polymorphic ventricular tachycardia that is characterized by heart rate between 200 and 250 beats per minute, and qrs complexes with changing amplitude and twisting of the points. The term also describes the syndrome of tachycardia with prolonged ventricular repolarization, long qt intervals exceeding 500 milliseconds or bradycardia. Torsades de pointes may be self-limited or may progress to ventricular fibrillation. torsades de pointes MONDO:0005479 A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate between 101 and 240 beats per minute. The P wave morphology must be distinct from the sinus P wave morphology. (CDISC) atrial tachycardia MONDO:0005480 An inflammatory skin condition caused by direct contact between the skin and either an irritating substance or an allergen. contact dermatitis contact dermatitis/eczema dermatitis venenata dermatitis, venenata contact eczema contact dermatitis MONDO:0005481 A form of allergic contact dermatitis that results from exposure to nickel contact dermatitis due to nickel MONDO:0005483 Hair loss as a result of chemotherapy treatment. chemotherapy-induced alopecia MONDO:0005484 An adenoma that arises from the colon or rectum. The group of colorectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis. adenoma of large bowel adenoma of large intestine adenoma of the large bowel adenoma of the large intestine colorectal adenoma colorectum adenoma large bowel adenoma large intestine adenoma colorectal adenoma MONDO:0005485 An abnormal condition of the mind that involves a loss of contact with reality. People experiencing psychosis may exhibit personality changes and thought disorder. Depending on its severity, this may be accompanied by unusual or bizarre behavior, as well as difficulty with social interaction and impairment in carrying out daily life activities. mental or behavioural disorder psychosis psychotic disorder MONDO:0005486 A rare developmental dental anomaly in humans characterized by the absence of six or more teeth. familial tooth agenesis hypodontia oligodontia selective tooth agenesis tooth agenesis, selective tooth agenesis MONDO:0005487 A disorder in which the individual suffers from both symptoms that qualify as schizophrenia and symptoms that qualify as a mood disorder (e.g., depression or bipolar disorder) for a substantial portion (but not all) of the active period of the illness; for the remainder of the active period of the illness, the individual suffers from delusions or hallucinations in the absence of prominent mood symptoms. schizoaffective disorder MONDO:0005488 A scoliosis with no known cause arising in adolescent. adolescent idiopathic scoliosis MONDO:0005489 A learning disorder characterized by an impairment in processing written words. Reading difficulties can include distortions, omissions or substitutions of characters. Oral and silent reading difficulties can include faulty and slow comprehension. dyslexia (disease) dyslexia dyslexia (disease) dyslexia MONDO:0005490 Stroke caused by the blockage of blood flow in one of the large arteries feeding the brain. Editor note: check this large artery stroke MONDO:0005491 A disease of the cardiac muscle developed subsequent to the initial protozoan infection by trypanosoma cruzi. After infection, less than 10% develop acute illness such as myocarditis (mostly in children). The disease then enters a latent phase without clinical symptoms until about 20 years later. Myocardial symptoms of advanced chagas disease include conduction defects (heart block) and cardiomegaly. Trypanosoma cruzi cardiomyopathy Trypanosoma cruzi caused cardiomyopathy Chagas cardiomyopathy MONDO:0005492 A vascular reaction of the skin characterized by erythema and wheal formation due to localized increase of vascular permeability. The causative mechanism may be allergy, infection, or stress. urticaria (disease) hives urticaria urticaria (disease) Urticarias urticaria MONDO:0005493 Anoxic encephalopathy resulting from acute CO intoxication, developing within 2-6 weeks of the poisoning event https://github.com/monarch-initiative/mondo/issues/4632 delayed encephalopathy after acute carbon monoxide poisoning carbon monoxide-induced delayed encephalopathy MONDO:0005494 An invasive breast carcinoma which is negative for expression of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2). triple-negative breast cancer triple-negative breast carcinoma triple-receptor negative breast cancer triple-negative breast carcinoma MONDO:0005495 A disease involving the adrenal gland. adrenal gland disease adrenal gland disease or disorder adrenal gland diseases adrenal gland disorder adrenal gland disorders disease of adrenal gland disease or disorder of adrenal gland disorder of adrenal gland adrenal gland disorder MONDO:0005496 A carcinoma that arises from epithelial cells of the bile duct bile duct cancer bile duct cancer (including cholangiocarcinoma) bile duct carcinoma carcinoma of bile duct bile duct carcinoma MONDO:0005497 A disease involving the bone development. bone development disease bone development disease or disorder disease of bone development disease or disorder of bone development disorder of bone development bone development disease MONDO:0005498 A serious bacterial infection caused by botulinum toxin which is produced by Clostridium botulinum. Patients are infected usually by ingestion of contaminated food or wound contamination. It leads to muscle paralysis which may result in respiratory failure. botulism botulism poisoning infection due to Clostridium botulinum food poisoning due to Clostridium botulinum foodborne botulism intoxication with Clostridium botulinum toxin wound botulism (subtype) foodborne botulism (subtype) infant botulism (subtype) botulism https://rarediseases.info.nih.gov/diseases/943/botulism MONDO:0005499 A malignant glioma that involves the brain. brain malignant glioma malignant glioma of brain brain glioma MONDO:0005500 A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor. congenital disorders of glycosylation, type I ALG1-CDG ALG1-CDG (CDG-1k) ALG11-CDG ALG11-CDG (CDG-1p) ALG12-CDG ALG12-CDG (CDG-1g) ALG2-CDG ALG2-CDG (CDG-1i) ALG3-CDG ALG3-CDG (CDG-1d) ALG6-CDG ALG6-CDG (CDG-1c) ALG8-CDG ALG8-CDG (CDG-1h) ALG9-CDG ALG9-CDG (CDG-1l) DOLK-CDG DOLK-CDG (CDG-1m) DPAGT1-CDG DPAGT1-CDG (CDG-1j) DPM1-CDG DPM1-CDG (CDG-1e) DPM2-CDG DPM2-CDG (CDG-1u) DPM3-CDG DPM3-CDG (CDG-1o) MPDU1-CDG MPDU1-CDG (CDG-1f) MPI-CDG MPI-CDG (CDG-1b) PMM2-CDG PMM2-CDG (CDG-1a) RFT1-CDG RFT1-CDG (CDG-1n) SRD5A3-CDG SRD5A3-CDG (CDG-1q) congenital disorder of glycosylation type I MONDO:0005501 A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain. congenital disorder of glycosylation type II congenital disorders of glycosylation, type II B4GALT1-CDG B4GALT1-CDG (CDG-2d) MGAT2-CDG MGAT2-CDG (CDG-2a) MOGS-CDG MOGS-CDG (CDG-2b) congenital disorder of glycosylation type II MONDO:0005502 Dengue fever (DF), caused by dengue virus, is an arboviral disease characterized by an initial non-specific febrile illness that can sometimes progress to more severe forms manifesting capillary leakage and hemorrhage (dengue hemorrhagic fever, or DHF) and shock (dengue shock syndrome, or DSS). DF Dengue Dengue fever Dengue virus caused disease or disorder Dengue virus disease or disorder Dengue virus infection Dengue virus infectious disease break bone fever breakbone fever classic dengue Philippine hemorrhagic fever Singapore hemorrhagic fever Thai hemorrhagic fever classical dengue hemorrhagic dengue dengue disease MONDO:0005503 A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development. https://github.com/monarch-initiative/mondo/issues/3719 developmental disorder of mental health developmental mental disorder developmental disorder of mental health MONDO:0005504 A Gram-positive bacterial infection caused by Corynebacterium diphtheriae. It usually involves the oral cavity, pharynx, and nasal cavity. Patients develop pseudomembranes in the affected areas and manifest signs and symptoms of an upper respiratory infection. The diphtheria toxin may cause myocarditis, polyneuritis, and other systemic effects. Corynebacterium infection diphtheria https://rarediseases.info.nih.gov/diseases/1875/diphtheria MONDO:0005505 A benign glial-neuronal neoplasm. It is usually supratentorial, located, generally, in the cortex and occurs in children and young adults with a long-standing history of partial seizures. A histologic hallmark of this tumor is the 'specific glioneuronal element', characterized by columns, made up of bundles of axons, oriented perpendicularly to the cortical surface.B DNET DNT dysembryoplastic neuroepithelial neoplasm dysembryoplastic neuroepithelial tumor (morphologic abnormality) dysembryoplastic neuroepithelial tumor https://rarediseases.info.nih.gov/diseases/10640/dysembryoplastic-neuroepithelial-tumor MONDO:0005506 An cancer with eccrine differentiation arising from the sweat glands.B cancer of eccrine sweat gland eccrine sweat gland cancer malignant eccrine neoplasm malignant eccrine neoplasm of skin malignant eccrine neoplasm of the skin malignant eccrine skin neoplasm malignant eccrine skin tumor malignant eccrine sweat gland neoplasm malignant eccrine tumor malignant eccrine tumor of skin malignant eccrine tumor of the skin malignant neoplasm of eccrine sweat gland eccrine sweat gland cancer MONDO:0005507 A primary or metastatic malignant neoplasm that affects the gums. cancer of gingiva gingiva cancer malignant gingiva neoplasm malignant gingival neoplasm malignant gingival tumor malignant gum neoplasm malignant gum tumor malignant neoplasm of gingiva malignant neoplasm of gum malignant neoplasm of other sites of gum malignant neoplasm of the gingiva malignant neoplasm of the gum malignant tumor of gingiva malignant tumor of gum malignant tumor of the gingiva malignant tumor of the gum malignant tumour of gingiva gum cancer gingival cancer MONDO:0005508 A bone neoplasm characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones. Bessel-Hagen disease exostoses, multiple multiple cartilaginous exostoses multiple congenital exostosis multiple exostosis syndromes multiple ostechondromas osteochondromatosis syndrome osteochondromatosis syndrome (disorder) [ambiguous] hereditary multiple exostoses 1 hereditary multiple exostoses 2 hereditary multiple exostoses 3 EXT HMO hereditary multiple exostoses hereditary multiple exostosis multiple exostoses hereditary multiple osteochondromas https://rarediseases.info.nih.gov/diseases/7035/hereditary-multiple-osteochondromas MONDO:0005509 A mesenchymal tumor composed of fibroblastic and histiocytic cells. histiocytoma histiocytoma MONDO:0005510 Collection of urine in the renal pelvis that results in dilatation of the renal pelvis and calyces. It is caused by obstruction of urine flow, nephrolithiasis, or vesicoureteral reflux. Signs and symptoms include flank pain, nausea, vomiting, fever, and dysuria. hydronephrosis MONDO:0005511 Deficiency of janus kinase-3 causing the near absence of T lymphocytes and Natural killer cells; and normal or elevated B lymphocytes due to an autosomal recessive variant of severe combined immunodeficiency. janus kinase-3 deficiency MONDO:0005512 An aggressive malignant mesothelioma that arises from the peritoneum. Patients usually present with abdominal pain and ascites. advanced malignant mesothelioma of peritoneum advanced malignant mesothelioma of the peritoneum advanced malignant peritoneal mesothelioma advanced peritoneal malignant mesothelioma diffuse malignant peritoneal mesothelioma malignant mesothelioma (disease) of peritoneum malignant mesothelioma of peritoneum malignant peritoneal mesothelioma, advanced peritoneal mesothelioma (disease), malignant peritoneum malignant mesothelioma (disease) primary malignant peritoneal mesothelioma peritoneal mesothelioma malignant peritoneal mesothelioma MONDO:0005514 Nanophthalmia is a severe form of microphthalmia characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma. https://github.com/monarch-initiative/mondo/issues/4626 nanophthalmia MONDO:0005515 A primary or metastatic malignant neoplasm involving the oral cavity. The majority are squamous cell carcinomas. cancer of oral cavity malignant mouth neoplasm malignant mouth tumor malignant neoplasm of mouth malignant neoplasm of oral cavity malignant neoplasm of the mouth malignant oral cavity neoplasm malignant oral cavity tumor malignant tumor of anterior floor of mouth malignant tumor of lateral floor of mouth malignant tumor of mouth malignant tumor of oral cavity malignant tumor of the mouth oral cavity cancer malignant neoplasm of anterior portion of floor of mouth malignant neoplasm of floor of mouth malignant neoplasm of lateral floor of mouth malignant neoplasm of lateral portion of floor of mouth malignant tumor of the floor of the mouth mouth cancer oral cavity cancer MONDO:0005516 A term referring to disorders characterized by abnormalities in the development of bones and cartilage. congenital skeletal dysplasia osteochondrodysplasia osteochondrodysplasia syndrome cartilage development disorder congenital anomaly of cartilage skeletal dysplasia osteochondrodysplasia MONDO:0005517 A primary or metastatic malignant neoplasm that affects the pharynx. pharynx neoplasm cancer of chordate pharynx cancer of pharynx chordate pharynx cancer malignant chordate pharynx neoplasm malignant neoplasm of chordate pharynx malignant neoplasm of pharynx malignant pharyngeal neoplasm malignant pharyngeal tumor malignant pharynx neoplasm malignant pharynx tumor malignant tumor of pharynx malignant tumor of the pharynx pharyngeal neoplasm pharynx cancer pharyngeal cancer pharynx cancer MONDO:0005518 A condition consisting of possessing the internal reproductive organs of one sex while exhibiting some of the secondary sex characteristics of the opposite sex. indeterminate sex and pseudohermaphroditism pseudohermaphroditism MONDO:0005519 A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas. cancer of renal pelvis malignant neoplasm of renal pelvis malignant renal pelvis neoplasm renal pelvis cancer carcinoma of kidney pelvis carcinoma of renal pelvis carcinoma of the kidney pelvis carcinoma of the renal pelvis kidney pelvis carcinoma kidney renal pelvis cancer renal pelvis carcinoma renal pelvis carcinoma MONDO:0005520 Bone softening and weakening usually caused by deficiency or impaired metabolism of vitamin D. Deficiency of calcium, magnesium, or phosphorus may also cause rickets. It predominantly affects children who suffer from severe malnutrition. It manifests with bone pain, fractures, muscle weakness, and skeletal deformities. rickets (disease) rachitis rickets rickets (disease) vitamin D hydroxylation-deficient rickets active rickets hypovitaminosis D nutritional rickets vitamin D deficiency disease vitamin-D deficiency rickets rickets MONDO:0005522 A carcinoma that arises from epithelial cells of the small intestine cancer of small bowel cancer of the small bowel small bowel cancer small intestinal cancer small intestine cancer carcinoma of small bowel carcinoma of small intestine carcinoma of the small bowel carcinoma of the small intestine small bowel carcinoma small intestinal carcinoma small intestine cancer, NOS small intestine carcinoma small intestine carcinoma MONDO:0005523 Errors in metabolic processing of steroids resulting from inborn genetic mutations that are inherited or acquired in utero. steroid inherited metabolic disorder MONDO:0005524 A carcinoma arising from the sweat glands. Representative examples include tubular carcinoma, spiradenocarcinoma, eccrine carcinoma, hidradenocarcinoma, and apocrine carcinoma. carcinoma of sweat gland carcinoma of the sweat gland carcinoma, sweat gland, malignant sweat gland carcinoma sweat gland carcinoma/apocrine eccrine carcinoma sweat gland carcinoma MONDO:0005525 A malignant disease of the T-lymphocytes in the bone marrow, thymus, and/or blood. T cell leukemia (disease) leukemia (disease) of T cell T-cell leukemia MONDO:0005526 A serious infectious disorder that follows wound contamination by the Gram-positive bacterium Clostridium tetani. The bacteria produce a neurotoxin called tetanospasmin, which causes muscle spasm in the jaw and other anatomic sites. Clostridium tetani caused infectious disease of the nervous system Clostridium tetani infectious disease of the nervous system clostridial tetanus infection due to Clostridium tetani lockjaw We treat tetanus and infection due to Clostridium tetani as synonymous tetanus https://rarediseases.info.nih.gov/diseases/5144/tetanus MONDO:0005527 A group of neurologic disorders caused by damage to the nervous system following exposure to pharmacologic, biologic, and chemical agents. Examples of neurotoxins include chemotherapy agents, radiation treatment, heavy metals, pesticides, and food additives. neurotoxicity neurotoxicity syndrome neurotoxicity syndromes toxic encephalopathy MONDO:0005528 An inherited metabolic disease that is has its basis in the disruption of vitamin metabolic process. inborn error of vitamin metabolic process inborn vitamin metabolic process disorder rare inborn error of vitamin metabolic process vitamin metabolic disorder inborn vitamin metabolic disorder MONDO:0005530 Disorders related or resulting from abuse or mis-use of opioids. opioid dependence opioid type dependence narcotism opiate dependence MONDO:0005531 Strong dependence, both physiological and emotional, upon morphine. morphine dependence MONDO:0005532 Crohn's disease affecting the colon. Crohn colitis Crohn's colitis MONDO:0005533 Particular variety of ulcerative colitis where only the left half of the colon is inflamed. inflammation of left colon left colon inflammation distal colitis MONDO:0005534 Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon. ileocolitis MONDO:0005535 Crohn's disease affecting the mouth. oral Crohn's disease oral Crohn disease MONDO:0005536 Ulcerative colitis that involves the entire colon. pan-ulcerative colitis universal colitis pancolitis MONDO:0005537 An Crohn disease involving a pathogenic inflammatory response in the anal canal. perianal Crohn's disease perianal Crohn disease MONDO:0005538 An inflammatory process affecting the anus. It is usually caused by sexually transmitted infectious agents and/or inflammatory bowel disease. anus inflammation inflammation of anus rectitis proctitis MONDO:0005539 An Crohn disease involving a pathogenic inflammatory response in the small intestine. small bowel Crohn's disease small bowel Crohn disease MONDO:0005541 A defect in the pars interarticularis of a vertebral bone. spondylolysis (disease) spondylolysis spondylolysis (disease) spondylolysis MONDO:0005542 Signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction. acute coronary syndrome acute coronary syndromes coronary syndrome, acute coronary syndromes, acute syndrome, acute coronary syndromes, acute coronary acute coronary syndrome MONDO:0005543 Autoimmune hepatitis characterized by the presence of antinuclear antibody (ANA) and antismooth-muscle antibody (ASMA). autoimmune hepatitis type 1 type 1 AIH autoimmune hepatitis type 1 MONDO:0005544 Age-related neuropathological condition with severe neuronal cell loss and gliosis in the hippocampus hippocampal sclerosis of aging MONDO:0005545 An infectious process in which the bacteria Staphylococcus aureus is present. staphylococcus aureus infection MONDO:0005546 A chronic disorder of unknown etiology characterized by pain, stiffness, and tenderness in the muscles of neck, shoulders, back, hips, arms, and legs. Other signs and symptoms include headaches, fatigue, sleep disturbances, and painful menstruation. https://github.com/monarch-initiative/mondo/issues/3170 fibromyalgia fibromyalgia syndrome fibromyalgia MONDO:0005549 A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy. renal cell carcinoma RCC adenocarcinoma of kidney adenocarcinoma of the kidney carcinoma, renal cell, malignant kidney adenocarcinoma renal cell adenocarcinoma renal cell cancer renal cell carcinoma, stage unspecified Editor note: check relationship to RCC renal cell adenocarcinoma MONDO:0005550 A disorder directly resulting from the presence and activity of a microbial, viral, or parasitic agent in humans. It can be transmitted by direct or indirect contact. communicable disease infection infectious infectious disease infectious diseases and manifestations infectious disorder transmissible disease clinical infection disease by infectious agent Replaces 'infection' in disease hierarchy. OBI imported term infection is moved to pathologic process. This class is a container class for infectious diseases, not the process of infection itself. infectious disease MONDO:0005551 An allergic disease involving a pathogenic inflammatory response in the camera-type eye. eye allergy MONDO:0005552 A disorder that is caused by pathologic changes in the ocular vasculature. disease of vasculature of eye disease or disorder of vasculature of eye disorder of vasculature of eye ocular vascular disorder vasculature of eye disease vasculature of eye disease or disorder ocular vascular disorder MONDO:0005554 Inflammatory and degenerative diseases of connective tissue structures, such as arthritis. rheumatic disease rheumatologic disorder collagen disease collagen vascular disease connective tissue disease disease, rheumatic diseases, rheumatic enthesopathies enthesopathy inflammatory rheumatism musculoskeletal pain disorder rheumatism This is an umbrella term encompassing conditions causing chronic, often intermittent pain affecting the joints and/or connective tissue rheumatic disorder MONDO:0005555 Cycloplegia is paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation. ciliary muscle paresis cycloplegia cycloplegic paralysis of accommodation paresis of accommodation accommodative paresis loss of accommodation paralysis of accommodation visual accommodation paralysis cycloplegia MONDO:0005556 Glomerulonephritis in the context of systemic lupus erythematosus. SLE nephritis lupus glomerulonephritis lupus nephritis Glomerulonephritides, lupus Nephritides, lupus glomerulonephritis, lupus lupus Glomerulonephritides lupus Nephritides nephritis, lupus lupus nephritis https://rarediseases.info.nih.gov/diseases/10747/lupus-nephritis MONDO:0005557 Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization. disorder of calcium metabolism calcium metabolism disease calcium metabolism disorder Defined in terms of GO calcium ion homeostatis. Also consistent with HPO. Note advice from GO as calcium ions are neither created or destroyed is not metabolic process in terms of go, but name retained for purposes of consistency with e.g. Snomed and Mesh, Consider relocating this as a sibling of metabolic disease. calcium metabolic disease MONDO:0005558 A disease involving the ovary. disease of ovary disease or disorder of ovary disorder of ovary ovarian disease ovarian disorder ovary disease ovary disease or disorder ovarian disorder MONDO:0005559 A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function. degenerative disease brain degeneration central nervous system degenerative disorder central nervous system neurodegenerative disorder degenerative disorder of central nervous system neurodegenerative disease cerebral degeneration disease Editor notes: DO treats this as two diseases neurodegenerative disease MONDO:0005560 A disease affecting the brain or part of the brain. brain disease brain disease or disorder disease of brain disease or disorder of brain disorder of brain encephalopathy Editor note: NCIT has different classes for brain disease and encephalopathy brain disorder MONDO:0005561 Pathology involving the thoracic, thoracoabdominal, or abdominal aorta (including aneurysms). (ACC) aorta disease aorta disease or disorder aortic disorder disease of aorta disease or disorder of aorta disorder of aorta disorder of the aorta aortic disorder MONDO:0005562 Age-related hearing impairment is characterized by a symmetric sensorineural hearing loss that is most pronounced in the high frequencies. Age of onset, progression, and severity of age-related hearing impairment (ARHI) show great variation in the population, but with a demonstrable increased prevalence in males. ARHI Editor note: check classification sensorineural vs conductive age-related hearing impairment MONDO:0005563 A rare, highly aggressive and lethal carcinoma that affects children and young adults. It arises from midline epithelial structures, most commonly the head, neck, and mediastinum. It is a poorly differentiated carcinoma and is characterized by mutations and rearrangement of the NUT gene. A balanced translocation t(15;19) is present that results in the creation of a fusion gene involving the NUT gene, most commonly BRD4-NUT fusion gene. Midline carcinoma of children and Young adults with NUT rearrangement NMC NUT Midline carcinoma NUT carcinoma carcinoma with t(15;19)(q13;p13.1) translocation nuclear protein in testis midline carcinoma NUT midline carcinoma of the head and neck nut midline carcinoma MONDO:0005564 A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003 embryo neoplasm embryonal neoplasm embryonal tumor EMBT embryonal cancer embryonal neoplasm MONDO:0005565 A malignant neoplasm composed of undifferentiated cells. https://github.com/monarch-initiative/mondo/issues/4206 blastoma embryoma blastoma MONDO:0005566 A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors. NAS drug withdrawal syndrome in newborn neonatal narcotic withdrawal syndrome neonatal withdrawal neonatal abstinence syndrome MONDO:0005567 A substance-specific organic brain syndrome that follows the discontinuation of administration or use, or reduction in intake of a substance (including alcohol, prescribed medications and recreational drugs). Syndrome manifests with diverse, often painful physical and psychological symptoms, which include but not limited to intense drug craving, anxiety, depression, insomnia, nausea, perspiration, body aches, tremors, hallucinations, and convulsions. https://github.com/monarch-initiative/mondo/issues/5544 drug withdrawal drug withdrawal syndrome substance withdrawal substance withdrawal disorder substance withdrawal syndrome withdrawal syndrome withdrawal disorder substance withdrawal syndrome MONDO:0005568 Blocking of a blood vessel by cholesterol-rich atheromatous deposits, generally occurring in the flow from a large artery to small arterial branches. It is also called arterial-arterial embolization or atheroembolism which may be spontaneous or iatrogenic. Patients with spontaneous atheroembolism often have painful, cyanotic digits of acute onset. atheroembolism cholesterol crystal embolism purple toe syndrome trash foot warfarin blue toe syndrome cholesterol embolism MONDO:0005570 A disease involving the hematopoietic system. https://github.com/monarch-initiative/mondo/issues/254 blood disease blood disorder blood dyscrasia disease of hematopoietic system disease of the blood and blood-forming organs disease or disorder of hematopoietic system disorder of hematopoietic system hematologic and lymphocytic disorder hematologic disorder hematological disease hematological disorder hematological system disease hematopoietic disease hematopoietic system disease hematopoietic system disease or disorder rare hematologic disease hematological disorders and malignancies placeholder for lymphoid disease hematologic disorder MONDO:0005571 Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume. polycythemia (disease) erythrocythemia polycythemia polycythemia (disease) polycythemia MONDO:0005572 Polycythemia resulting from hypoxia. polycythemia due to hypoxia MONDO:0005574 Neurodegenerative disorders involving deposition of abnormal tau protein isoforms (tau proteins) in neurons and glial cells in the brain. Pathological aggregations of tau proteins are associated with mutation of the tau gene on chromosome 17 in patients with alzheimer disease; dementia; parkinsonian disorders; progressive supranuclear palsy (supranuclear palsy, progressive); and corticobasal degeneration. tauopathy MONDO:0005575 A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma. https://github.com/monarch-initiative/mondo/issues/4521 cancer of colorectum cancer of large bowel cancer of large intestine cancer of the large bowel colon cancer, advanced, somatic colon cancer, somatic colorectal cancer colorectal cancer with chromosomal instability, somatic colorectal cancer, autosomal dominant, somatic mutation colorectal cancer, somatic colorectal cancer, susceptibility to, autosomal dominant, somatic mutation colorectum cancer malignant colorectal neoplasm malignant colorectal tumor malignant colorectum neoplasm malignant large bowel neoplasm malignant large bowel tumor malignant large intestine neoplasm malignant large intestine tumor malignant neoplasm of colorectum malignant neoplasm of large bowel malignant neoplasm of large intestine malignant neoplasm of the large bowel malignant neoplasm of the large intestine malignant tumor of large bowel malignant tumor of large intestine malignant tumor of the large bowel malignant tumor of the large intestine CRC colon cancer colon cancer, susceptibility to, autosomal dominant, somatic mutation large intestine cancer Editor note: some sources make distinct classes for colorectal vs large intestine. We follow NCIT and make these equivalent colorectal cancer MONDO:0005576 Cryoglobulinemia is a type of vasculitis that is caused by abnormal proteins (antibodies) in the blood called 'cryoglobulins.' At cold temperatures, these proteins become solid or gel-like, which can block blood vessels and cause a variety of health problems. Many people affected by this condition will not experience any unusual signs or symptoms. When present, symptoms vary but may include breathing problems; fatigue; glomerulonephritis ; joint or muscle pain; purpura ; Raynaud's phenomenon ; skin death; and/or skin ulcers. In some cases, the exact underlying cause is unknown; however, cryoglobulinemia can be associated with a variety of conditions including certain types of infection; chronic inflammatory diseases (such as autoimmune disease); and/or cancers of the blood or immune system. Treatment varies based on the severity of the condition, the symptoms present in each person and the underlying cause. Cryoimmunoglobulinaemia cryoglobulinemia cryoglobulinemia https://rarediseases.info.nih.gov/diseases/6217/cryoglobulinemia MONDO:0005578 An inflammatory process affecting a joint. Causes include infection, autoimmune processes, degenerative processes, and trauma. Signs and symptoms may include swelling around the affected joint and pain. arthritis inflammation of skeletal joint skeletal joint inflammation inflammatory disorder of joint Editor note: osteoarthritis is primarily non-inflammatory which causes issues if we classify arthritis as inflammatory. arthritic joint disease MONDO:0005579 A chronic condition characterised by recurrent generalised seizures. https://github.com/monarch-initiative/mondo/issues/2543 EIG epilepsy, idiopathic generalized generalised epilepsy generalized epilepsy idiopathic generalized epilepsy epilepsy, idiopathic generalized MONDO:0005580 Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC) that can affect any part of the esophagus, but is usually located in the upper or middle third. ESCC esophageal epidermoid carcinoma esophageal scc esophageal squamous cell cancer esophageal squamous cell carcinoma esophagus scc esophagus squamous cell carcinoma scc of esophagus scc of the esophagus squamous cell car. - esophagus squamous cell carcinoma of esophagus squamous cell carcinoma of the esophagus esophageal squamous cell carcinoma MONDO:0005582 Recurrent episodes of over-eating. binge eating binge eating disorder binge eating disorder MONDO:0005583 A disease that occurs in animals. animal disease diseases, animal non-human animal disease MONDO:0005584 Serious heritable structural anomalies of the left side of the heart, including hypoplastic left heart syndrome, aortic valve stenosis, coarctation of the aorta, mitral valve anomalies and bicuspid aortic valve, that are present from birth. https://github.com/monarch-initiative/mondo/issues/4069 congenital left-sided heart lesions MONDO:0005585 A form of hypertension that occurs as a direct result of chemotherapy treatment chemotherapy-induced hypertension MONDO:0005586 A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma. craniocervical region neoplasm craniocervical region neoplasm (disease) craniocervical region tumor head and neck neoplasm head and neck neoplasm (excluding central nervous system) head and neck tumor neoplasm of craniocervical region neoplasm of head and neck neoplasm of the head and neck tumor of craniocervical region tumor of head and neck tumor of the head and neck head and neck neoplasm MONDO:0005588 Inflammation and ulceration of the oral mucosa as a result of chemotherapy treatment. chemotherapy-induced oral mucositis MONDO:0005589 Pancreatits that is the result of treatment with thiopurine immunosuppressants such as azathioprine or mercaptopurine. thiopurine immunosuppressant-induced pancreatitis MONDO:0005590 A breast carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: ductal carcinoma in situ (DCIS) and invasive ductal carcinoma. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist. duct adenocarcinoma duct carcinoma ductal adenocarcinoma ductal carcinoma breast ductal carcinoma ductal breast adenocarcinoma ductal breast carcinoma ductal carcinoma of breast ductal carcinoma of the breast mammary duct adenocarcinoma breast ductal adenocarcinoma MONDO:0005591 pit and fissure surface dental caries MONDO:0005592 smooth surface dental caries MONDO:0005593 A chronic inflammatory process that affects the tissues that surround and support the teeth. periodontitis, chronic chronic periodontitis MONDO:0005594 A permanent mark left on the skin in the process of wound healing. SCAR Scar scarring severe cutaneous adverse reaction MONDO:0005595 A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx. epidermoid carcinoma of larynx epidermoid carcinoma of the larynx laryngeal epidermoid carcinoma laryngeal squamous cell carcinoma laryngeal throat squamous cell cancer larynx epidermoid carcinoma larynx squamous cell carcinoma squamous cell carcinoma of larynx squamous cell carcinoma of the larynx LXSC laryngeal squamous cell carcinoma MONDO:0005596 A malignant cystic epithelial neoplasm arising from the glandular epithelium. The malignant epithelial cells invade the stroma. The cystic spaces contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenocarcinomas. cystadenocarcinoma cystadenocarcinoma (morphologic abnormality) cystadenocarcinoma NOS (morphologic abnormality) cystadenocarcinoma, malignant cystadenocarcinoma MONDO:0005597 Cystic renal cell carcinoma includes any malignant neoplasm of renal tubular epithelium which presents as a fluid-filled mass. Approximately 15 per cent of cases of renal cell carcinoma will be cystic on radiologic and pathologic examination. The clinical features of cystic renal cell carcinoma are similar to those which are solid. The radiographic and pathologic findings of cystic renal cell carcinoma are often more confusing and less specific than the findings of renal cell carcinoma which are predominantly solid. There are four basic pathologic mechanisms resulting in cystic renal cell carcinoma: intrinsic multiloculated growth; intrinsic unilocular growth (cystadenocarcinoma); cystic necrosis; and origin from the epithelial lining of a preexisting simple cyst. There are three basic radiologic patterns of cystic renal cell carcinoma: unilocular cystic mass, multiloculated cystic mass, and discrete mural nodule in a cystic mass. Cystic renal cell carcinoma is often extremely difficult to differentiate from non-neoplastic, benign neoplastic, and other malignant neoplastic masses utilizing radiologic studies alone. This review presents the clinical, pathologic, and radiographic features of cystic renal cell carcinoma and discusses its radiologic differential diagnosis. cystic renal cell carcinoma MONDO:0005598 A neuroblastoma associated with increased dopamine excretion. dopaminergic neuroblastoma MONDO:0005599 A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic cells with an epithelioid appearance. In the majority of cases, the neoplastic epithelioid cells lack significant cytologic atypia; mitotic figures are infrequently seen. In a minority of cases, the neoplastic cells are poorly differentiated and there is evidence of nuclear atypia and increased mitotic activity. epithelial mesothelioma epithelioid mesothelioma epithelioid mesothelioma, malignant epithelioid mesothelioma, malignant (morphologic abnormality) malignant epithelial mesothelioma malignant epithelioid mesothelioma MONDO:0005601 An invasive adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin. There is cellular atypia, increased layering of cells, complexity of glands, and papillary formations. mucinous adenocarcinoma of ovary mucinous adenocarcinoma of the ovary mucinous carcinoma of ovary mucinous carcinoma of the ovary ovarian mucinous adenocarcinoma ovarian mucinous carcinoma ovary mucinous adenocarcinoma ovarian mucinous adenocarcinoma MONDO:0005602 A non-seminomatous germ cell tumor arising from the ovary. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, ovarian teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor. germ cell teratoma of ovary germ cell teratoma of the ovary ovarian germ cell teratoma ovarian teratoma teratoma of ovary teratoma of the ovary ovarian teratoma MONDO:0005603 A tubular adenocarcinoma that involves the pancreas. pancreas tubular adenocarcinoma pancreatic tubular adenocarcinoma MONDO:0005605 A benign papillary neoplasm composed of transitional cells which show preservation of the nuclear polarity. papilloma, transitional cell, benign transitional cell papilloma transitional cell papilloma NOS (morphologic abnormality) transitional cell papilloma, benign transitional cell papilloma, benign (morphologic abnormality) transitional papilloma transitional cell papilloma MONDO:0005606 An infiltrating adenocarcinoma in which the malignant cells form tubular structures. Representative examples include the tubular breast carcinoma and the gastric tubular adenocarcinoma. carcinoma, tubular cell, malignant tubular adenocarcinoma tubular adenocarcinoma (morphologic abnormality) tubular carcinoma tubular adenocarcinoma MONDO:0005607 A type of chronic obstructive pulmonary disease characterized by chronic inflammation in the bronchial tree that results in edema, mucus production, obstruction, and reduced airflow to and from the lung alveoli. The most common cause is tobacco smoking. Signs and symptoms include coughing with excessive mucus production, and shortness of breath. bronchitis, chronic chronic bronchitis MONDO:0005608 A highly contagious viral infection caused by the varicella zoster virus. Clinically, it may be manifested as shingles or chicken pox. Varicella-zoster Virus infection varicella zoster infection varicella zoster infection MONDO:0005609 A common dermal and neurologic disorder caused by reactivation of the varicella-zoster virus that has remained dormant within dorsal root ganglia, often for decades, after the patient's initial exposure to the virus in the form of varicella (chickenpox). It is characterized by severe neuralgic pain along the distribution of the affected nerve and crops of clustered vesicles over the area. Zoster herpes Zoster herpes zona shingles postherpetic neuralgia herpes zoster MONDO:0005610 Disabling osteochondrodysplasia with osteosclerosis, cone-shaped metaphysis, and shortening of the diaphysis. It is endemic in parts of Siberia and northern China. Mineral deficiencies (e.g., selenium, iodine), fungal cereal contamination, and water contamination may be contributing factors in its etiology. Kashin-Beck disease MONDO:0005611 The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival. bladder transitional cell carcinoma bladder urothelial cancer bladder urothelial carcinoma transitional cell carcinoma of bladder transitional cell carcinoma of the urinary bladder urinary bladder transitional cell carcinoma urinary bladder urothelial carcinoma urothelial bladder carcinoma urothelial carcinoma of the urinary bladder BLCA bladder transitional cell carcinoma MONDO:0005613 An adenocarcinoma of the cervix or the vagina arising from mesonephric remnants. malignant mesonephroma mesonephric adenocarcinoma MONDO:0005614 A carcinoma that arises from the pancreas showing both ductal and squamous differentiation. The squamous component should represent at least 30% of the malignant cellular infiltrate. The prognosis is usually worse than that of ductal adenocarcinoma. adenosquamous carcinoma of pancreas adenosquamous carcinoma of the pancreas adenosquamous pancreas carcinoma pancreas adenosquamous carcinoma pancreatic adenoacanthoma pancreatic adenosquamous cancer pancreatic adenosquamous carcinoma pancreatic mixed squamous and adenocarcinoma pancreatic mucoepidermoid carcinoma PAASC pancreatic adenosquamous carcinoma MONDO:0005615 Plasmacytoma is a localized mass of neoplastic monoclonal plasma cells that represents approximately 5% of all plasma cell neoplasms. There are two separate entities: primary plasmacytoma of the bone and extramedullary plasmacytoma of the soft tissues. Of the extramedullary plasmacytomas, 80% occur in the head and neck, usually in the upper respiratory tract. The median age at diagnosis is 50 years and the male to female ratio is 3:1. Long-term survival is possible following local radiotherapy, particularly for soft tissue presentations. plasmacytoma solitary plasmacytoma anaplastic plasmacytoma anaplastic skeletal plasmacytoma (type) anaplastic solitary extramedullary plasmacytoma of the cecum (type) extramedullary anaplastic plasmacytoma (type) myeloma - solitary myeloma, solitary solitary myeloma alternative definition: A type of cancer that begins in plasma cells (white blood cells that produce antibodies). A plasmacytoma may turn into multiple myeloma. plasmacytoma MONDO:0005616 A lung carcinoma characterized by the presence of malignant non-keratinizing squamoid cells, mucin-producing cells and intermediate type cells. lung mucoepidermoid cancer lung mucoepidermoid carcinoma mucoepidermoid carcinoma of the lung pulmonary mucoepidermoid carcinoma MONDO:0005617 A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular, squamous, or transitional cell differentiation. anaplastic carcinoma carcinoma, undifferentiated carcinoma, undifferentiated, malignant undifferentiated carcinoma undifferentiated carcinoma MONDO:0005618 A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety. anxiety anxiety disorder anxiety state anxiety disorder MONDO:0005619 A bacterial infectious disorder contracted by consumption of food or drink contaminated with Salmonella typhi. This disorder is common in developing countries and can be treated with antibiotics. typhoid typhoid fever typhoidal salmonellosis typhoid fever MONDO:0005620 Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia. HCHWA dutch hereditary cerebral amyloid angiopathy hereditary cerebral haemorrhage with amyloidosis - Dutch type CAA, familial cerebral amyloid angiopathy, familial cerebral amyloid angiopathy, genetic cerebral amyloid angiopathy MONDO:0005621 Damage to the blood vessels of the brain Brain Vascular injury Brain Vascular trauma Brain injury, Vascular Vascular Brain Injuries Vascular Brain injury Vascular Traumas, Brain Vascular injury, Brain Vascular trauma, Brain injury, Brain Vascular injury, Vascular Brain injury, Vascular, Brain trauma, Brain Vascular trauma, cerebrovascular vascular brain injury MONDO:0005623 Inflammatory disease of the thyroid gland due to autoimmune responses leading to lymphocytic infiltration of the gland. It is characterized by the presence of circulating thyroid antigen-specific T-cells and thyroid autoantibodies. The clinical signs can range from hypothyroidism to thyrotoxicosis depending on the type of autoimmune thyroiditis. autoimmune thyroid gland inflammation autoimmune thyroiditides autoimmune thyroiditis lymphocytic thyroiditides lymphocytic thyroiditis lymphomatous thyroiditides lymphomatous thyroiditis thyroiditides, autoimmune thyroiditides, lymphocytic thyroiditides, lymphomatous thyroiditis, lymphocytic thyroiditis, lymphomatous Disease of the thyroid gland due to autoimmunity in which the patient's immune system attacks and damages their thyroid. It can be either hyper- or hypothyroidism. (http://www.medicinenet.com/script/main/art.asp?articlekey=24314 - accessed 20th July, 2015) autoimmune thyroid disease MONDO:0005624 Atrophic thyroiditis is an organ-specific autoimmune disease characterized by thyroid autoantibodies, functional hypothyroidism, and absence of goiter. It has been suggested that Hashimoto's thyroiditis, primary myxedema or AT, and Graves’ disease are different expressions of a basically similar autoimmune process, and that the clinical appearance reflects the spectrum of the immune response in the particular patient atrophic thyroiditis MONDO:0005625 A sequestration of Plasmodium falciparum in the brain, which can cause coma and/or seizures. malarial encephalitis cerebral malaria MONDO:0005626 A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas. epithelial neoplasm epithelioma epithelial neoplasm MONDO:0005627 A primary or metastatic malignant neoplasm affecting the head and neck. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma. head and neck neoplasm head and neck tumours head/neck neoplasm cancer of craniocervical region cancer of head and neck cancer of the head and neck craniocervical region cancer head and neck cancer head and neck malignant neoplasia malignant craniocervical region neoplasm malignant head and neck neoplasm malignant head and neck tumor malignant neoplasm of craniocervical region malignant neoplasm of head and neck malignant neoplasm of the head and neck malignant tumor of head and neck malignant tumor of the head and neck head and neck cancer MONDO:0005628 A malignant neoplasm involving the male breast. Male breast cancer Male breast carcinoma carcinoma of Male breast carcinoma of male breast carcinoma of the Male breast male breast cancer male breast carcinoma malignant neoplasm of male breast neoplasm of male breast breast cancer in men breast cancer, male male breast carcinoma MONDO:0005629 Keratitis due to infection by acanthamoeba; it is usually associated with soft contact lens wear, particularly overnight wear. Acanthamoeba caused keratitis keratitis, Acanthamoeba Acanthamoeba keratitis https://rarediseases.info.nih.gov/diseases/9285/acanthamoeba-keratitis MONDO:0005631 Actinomycosis is a chronic bacterial infection that commonly affects the face and neck. It is usually caused by an anaerobic bacteria called Actinomyces israelii. Actinomyces are normal inhabitants of the mouth, gastrointestinal tract, and female genital tract, and do not cause an infection unless there is a break in the skin or mucosa. The infection usually occurs in the face and neck, but can sometimes occur in the chest, abdomen, pelvis, or other areas of the body. The infection is not contagious. Actinomyces infection Madura foot due to Actinomadura actinomycotic madura foot actinomycotic mycetema actinomycotic mycetoma of foot Actinomyces israeli Actinomycetes Keratoactinomycosis actinomycetoma anaerobic Actinomyces infection boil canaliculitis infections, Actinomyces actinomycosis https://rarediseases.info.nih.gov/diseases/5728/actinomycosis MONDO:0005632 A vaso-occlusive crisis of the pulmonary vasculature occurring in patients with sickle cell disease. It is characterized by the presence of a new radiodensity on a chest radiograph accompanied by fever, cough, sputum production, dyspnea, or hypoxia. ACS acute chest syndrome in sickle cell disease acute chest syndrome MONDO:0005634 Acute conjunctivitis that is characterized by bleeding into the conjunctiva. Apollo disease epidemic hemorrhagic conjunctivitis viral conjunctivitis acute hemorrhagic conjunctivitis MONDO:0005635 A benign neoplasm characterized by the presence of a glandular and a mesenchymal (fibromyomatous) component. It occurs in the uterine corpus and the cervix. A variant of adenomyoma associated with glandular architectural complexity is called atypical polypoid adenomyoma. Simple polypectomy is usually curative. Atypical polypoid adenomyoma may recur following polypectomy. adenomyoma adenomyoma (morphologic abnormality) adenomyoma, benign adenomyoma MONDO:0005636 A low grade malignant neoplasm characterized by the presence of a benign epithelial component (tubular and cleft-like glands) and a low grade sarcomatous component that contains varying amounts of fibrous and smooth muscle tissues. In a minority of cases, the sarcomatous component contains heterologous elements including striated muscle, cartilage, and fat. It occurs in the uterine corpus, ovary, fallopian tube, cervix, and vagina. It may recur and in a minority of cases may metastasize to distant anatomic sites. Mullerian adenosarcoma Müllerian adenosarcoma adenosarcoma adenosarcoma (morphologic abnormality) mullerian adenosarcoma adenosarcoma MONDO:0005638 A rare disorder characterized by the lack of ability to recognize individuals, objects, shapes, sounds, or smells. There is no loss of memory. It is caused by neurological damage in the brain, specifically in the occipital or parietal lobes. agnosia Monomodal visual amnesia primary visual agnosia visual amnesia dyspraxia (finding) dyspraxia syndrome agnosia https://rarediseases.info.nih.gov/diseases/8/agnosia MONDO:0005639 A prodromal phase of infection with the human immunodeficiency virus (HIV). Laboratory criteria separating aids-related complex (ARC) from aids include elevated or hyperactive B-cell humoral immune responses, compared to depressed or normal antibody reactivity in aids; follicular or mixed hyperplasia in arc lymph nodes, leading to lymphocyte degeneration and depletion more typical of aids; evolving succession of histopathological lesions such as localization of Kaposi's sarcoma, signaling the transition to the full-blown aids. AIDS related complex MONDO:0005640 A syndrome characterized by a silent and inert state without voluntary motor activity despite preserved sensorimotor pathways and vigilance. Bilateral frontal lobe dysfunction involving the anterior cingulate gyrus and related brain injuries are associated with this condition. This may result in impaired abilities to communicate and initiate motor activities. (From Adams et al., Principles of Neurology, 6th ed, p348; Fortschr Neurol Psychiatr 1995 Feb;63(2):59-67) Coma vigilans Coma vigilans (finding) akinetic mutism MONDO:0005641 A slow progressive disease of mink caused by the aleutian mink disease virus. It is characterized by poor reproduction, weight loss, autoimmunity, hypergammaglobulinemia, increased susceptibility to bacterial infections, and death from renal failure. The disease occurs in all color types, but mink which are homozygous recessive for the Aleutian gene for light coat color are particularly susceptible. Aleutian disease Aleutian mink disease virus caused disease or disorder Aleutian mink disease virus disease or disorder Aleutian mink disease virus infectious disease aleutian mink disease MONDO:0005642 Conjunctivitis due to hypersensitivity to various allergens. Atopic conjunctivitis allergic conjunctivitis allergic conjunctivitis (disease) allergic form of conjunctivitis (disease) atopic conjunctivitis MONDO:0005643 Virus diseases caused by members of the alphavirus genus of the family togaviridae. Alphavirus caused disease or disorder Alphavirus disease or disorder Alphavirus infectious disease MONDO:0005644 A parasitic infectious disorder caused by amoebas. The parasite may cause colitis which is manifested with bloody diarrhea, abdominal pain, nausea and fever. In rare cases it may spread to the liver, brain and lungs. amoebiasis entamoebiasis chronic intestinal amebiasis amebiasis MONDO:0005645 Infection by hookworms of the genus Ancylostoma. hookworm infection Ancylostoma caused disease or disorder Ancylostoma disease or disorder Ancylostoma infectious disease Ancylostoma duodenale infection ancylostomiasis MONDO:0005647 A sexually transmitted papillary growth caused by the human papillomavirus. It usually arises in the skin and mucous membranes of the perianal region and external genitalia. anogenital Human Papillomavirus infection anogenital Human papilloma Virus infection anogenital Human papilloma Virus infectious disease anogenital Warts anogenital venereal wart genital Warts genital wart virus infectious disease venereal wart condyloma acuminatum anogenital human papillomavirus infection MONDO:0005648 Dysfunction of the aortic valve characterized by incomplete valve closure. aortic incompetence aortic insufficiency aortic regurgitation rheumatic aortic insufficiency rheumatic aortic regurgitation rheumatic aortic valve insufficiency rheumatic aortic valve regurgitation Corrigan's disease aortic valve insufficiency MONDO:0005649 Acute inflammation of the vermiform appendix. inflammation of vermiform appendix vermiform appendix inflammation acute appendicitis acute appendicitis with generalized peritonitis acute appendicitis with peritoneal abscess appendicitis MONDO:0005650 Virus diseases caused by the arenaviridae. Arenaviridae caused disease or disorder Arenaviridae disease or disorder arenavirus infectious disease disease due to arenavirus Arenaviridae infection arenavirus infection arenavirus infections disease caused by arenavirus infection, Arenaviridae infection, arenavirus infections, Arenaviridae infections, arenavirus Arenaviridae infectious disease MONDO:0005651 A viral infectious disease that involves fever and bleeding disorder caused by Arenavirus. arenaviral hemorrhagic fever arenavirus hemorrhagic fever MONDO:0005652 Infections caused by viruses of the family arteriviridae. Arterivirus caused disease or disorder Arterivirus disease or disorder Arterivirus infectious disease MONDO:0005654 An infection that is caused by the roundworm Ascaris lumbricoides, many cases of which remain asymptomatic. During the transient larval migratory phase, shortness of breath, fever, and eosinophilia can occur. Depending on the intestinal worm burden, a spectrum of gastrointestinal tract symptoms can occur. Ascaris lumbricoides caused disease or disorder Ascaris lumbricoides disease or disorder Ascaris lumbricoides infectious disease ascariasis - roundworm Ascaris lumbricoides infection ascariasis MONDO:0005655 Infection with nematodes of the genus ascaridia. This condition usually occurs in fowl, often manifesting diarrhea. Ascaridia caused disease or disorder Ascaridia disease or disorder Ascaridia infectious disease infection by Ascaridia ascaridiosis infection caused by Ascaridia ascaridiasis MONDO:0005656 Infections with nematodes of the order ascaridida. Ascaridida caused disease or disorder Ascaridida disease or disorder Ascaridida infection infection, Ascaridida infections, Ascaridida Ascaridida infectious disease MONDO:0005657 Aspergillosis is an infection, growth, or allergic response caused by the Aspergillus fungus. There are several different kinds of aspergillosis. One kind is allergic bronchopulmonary aspergillosis (also called ABPA), a condition where the fungus causes allergic respiratory symptoms similar to asthma, such as wheezing and coughing, but does not actually invade and destroy tissue. Another kind of aspergillosis is invasive aspergillosis. This infection usually affects people with weakened immune systems due to cancer, AIDS, leukemia, organ transplantation, chemotherapy, or other conditions or events that reduce the number of normal white blood cells. In this condition, the fungus invades and damages tissues in the body. Invasive aspergillosis most commonly affects the lungs, but can also cause infection in many other organs and can spread throughout the body (commonly affecting the kidneys and brain). Aspergilloma, a growth (fungus ball) that develops in an area of previous lung disease such as tuberculosis or lung abscess, is a third kind of aspergillosis. This type of aspergillosis is composed of a tangled mass of fungus fibers, blood clots, and white blood cells. The fungus ball gradually enlarges, destroying lung tissue in the process, but usually does not spread to other areas. infection due to Aspergillus aspergillosis https://rarediseases.info.nih.gov/diseases/5856/aspergillosis MONDO:0005658 Infections with astrovirus, causing gastroenteritis in human infants, calves, lambs, and piglets. Astroviridae infectious disease MONDO:0005659 A chronic inflammation in which the nasal mucosa gradually changes from a functional to a non-functional lining without mucociliary clearance. It is often accompanied by degradation of the bony turbinates, and the foul-smelling mucus which forms a greenish crust (ozena). Ozaena dry rhinitis ozena rhinitis, atrophic rhinitis sicca atrophic rhinitis MONDO:0005660 Infections with viruses of the genus avulavirus, family paramyxoviridae. This includes newcastle disease and other infections of domestic fowl. Avulavirus infectious disease MONDO:0005661 Babesiosis refers to a condition caused by microscopic parasites that infect the red blood cells. Many people who are infected with Babesia parasites do not experience any symptoms of the condition. When present, signs and symptoms may include flu-like symptoms such as fever, chills, headache, body aches, nausea and fatigue. In severe cases, babesiosis can be associated with hemolytic anemia. Babesia parasites are primarily spread by infected ticks. Treatment is generally only required in people who develop symptoms of the condition. When necessary, affected people are often prescribed a combination of antimicrobial medications along with supportive care to manage symptoms. Babesia caused disease or disorder Babesia disease or disorder Babesia infectious disease babesiasis infection by Babesia piroplasmosis Babesia parasite infection Human babesiosis babesiosis https://rarediseases.info.nih.gov/diseases/5878/babesiosis MONDO:0005662 Infection by parasites of the genus balantidium. The presence of Balantidium in the large intestine leads to diarrhea; dysentery; and occasionally ulcer. balantidiosis ciliary dysentery B coli infection Balantidiases Balantidium coli infection Human balantidiasis large-intestinal infection with Balantidium coli balantidiasis https://rarediseases.info.nih.gov/diseases/809/balantidiasis MONDO:0005663 A neurologic syndrome following injury of the spinal sympathetic nerves of the neck. The injury usually results from arthritis or pinching by the adjacent vertebrae. Symptoms include facial pain, chronic allergies, dizziness, neck pain, ear pain and vertigo. Cervicocranial syndrome posterior cervical sympathetic syndrome Barre-Lieou syndrome MONDO:0005664 An infectious disease produced by bacteria of the genus Bartonella. Bartonella caused disease or disorder Bartonella disease or disorder Bartonella infection Bartonella infectious disease Rochalimaea infection (disorder) bartonelliasis Rochalimaea infection Rochalimaea infections bartonellosis MONDO:0005665 Partial or complete paralysis of the facial muscles of one side of a person's face. It is caused by damage to the seventh cranial nerve. It is usually temporary but it may recur. Bell palsy Bell's (facial) palsy facial nerve palsy facial nerve paralysis nerve paralysis, Facial palsy of facial nerve paralysis Of Facial nerve facial palsy Bell's palsy MONDO:0005667 A motility disorder characterized by biliary colic, absence of gallstones, and an abnormal gallbladder ejection fraction. It is caused by gallbladder dyskinesia and/or sphincter of oddi dysfunction. sphincter of Oddi dysfunction Editor note: consider ciliary classification biliary dyskinesia MONDO:0005668 Hypersensitivity granulomatous pneumonitis caused by the inhalation of avian antigens that are present in the dust of the droppings and feathers of many species of birds. In the acute phase it manifests as fever, chills, dyspnea, cough, and chest tightness. Chronic exposure may lead to interstitial lung fibrosis. Avian hypersensitivity pneumonitis bird breeder's lung bird fancier lung bird fancier's lung bird-fancier's lung bird-fanciers' lung pigeon breeder's lung pigeon-breeder lung disease pigeon-breeder's lung bird-breeder's lung poultry worker's lung bird fancier's lung MONDO:0005669 A superficial mycosis that is caused by Piedraia hortae and is manifested by a small firm black nodule involving the hair shaft. black piedra MONDO:0005670 A complication of malaria resulting from hemolysis. Black water fever blackwater fever hemoglobinuric, malaria malarial hemoglobinuria blackwater fever MONDO:0005671 Infections with organisms of the genus blastocystis. The species B. hominis is responsible for most infections. Parasitologic surveys have generally found small numbers of this species in human stools, but higher positivity rates and organism numbers in aids patients and other immunosuppressed patients (immunocompromised host). Symptoms include abdominal pain; diarrhea; constipation; vomiting; and fatigue. Blastocystis infection infection, Blastocystis infections, Blastocystis Blastocystis infectious disease MONDO:0005672 Blastomycosis is a rare infection that may develop when people inhale a fungus called Blastomyces dermatitidis, a fungus that is found in moist soil, particularly where there is rotting vegetation. The fungus enters the body through the lungs, infecting them. The fungus then spreads to other areas of the body.The infection may affect the skin, bones and joints, and other areas. The disease usually affects people with weakened immune systems, such as those with HIV or who have had an organ transplant. Blastomyces dermatitidis caused disease or disorder Blastomyces dermatitidis disease or disorder Blastomyces dermatitidis infection Blastomyces dermatitidis infectious disease Chicago disease Gilchrist's disease North American blastomycosis blastomycotic infection infection by Blastomyces dermatitidis blastomycosis https://rarediseases.info.nih.gov/diseases/5931/blastomycosis MONDO:0005673 A disorder affecting the small intestine. It is caused by the stasis of food and subsequent overgrowth of bacteria in a portion of the small intestine that is unintentionally bypassed as a complication of abdominal surgery or as a sequela of gastrointestinal disorders which impede effective motility. Clinical signs include bloating, abdominal pain, diarrhea and weight loss. If untreated, the clinical course progresses to malabsorption of fats, vitamin B12 and calcium, the latter which predisposes to nephrolithiasis and osteoporosis. bacterial overgrowth syndrome blind loop syndrome stasis (blind loop) syndrome stasis syndrome blind loop syndrome MONDO:0005674 A benign but locally aggressive tumor that arises from the bone and is composed of mononuclear cells admixed with macrophages and osteoclast-like giant cells. It usually arises from the ends of long bones or the vertebrae. Clinical presentation includes pain, edema, and decreased range of motion in the affected joint. GCT of bone Osteoclastoma, benign benign bone giant cell tumor giant cell neoplasm of bone giant cell tumor of bone giant cell tumor of bone (morphologic abnormality) giant cell tumor of bone NOS (morphologic abnormality) giant cell tumor of the bone giant cell tumor, benign giant cell myeloma osteoclastoma bone giant cell tumor MONDO:0005676 An encephalomyelitis of horses, sheep and cattle caused by borna disease virus. enzootic encephalomyelitis borna disease MONDO:0005677 Rickettsia conorii infectious disease MONDO:0005680 A delayed relapse of epidemic typhus, caused by Rickettsia prowazekii. Brill Zinsser disease Brill disease Brill's disease recrudescent typhus latent typhus sporadic typhus Brill-Zinsser disease MONDO:0005682 Acute inflammation of the walls of the terminal bronchioles that spreads into the peribronchial alveoli and alveolar ducts. It results in the creation of foci of consolidation, which are surrounded by normal parenchyma. It affects one or more lobes, and is frequently bilateral and basal. It is usually caused by bacteria (e.g., Staphylococcus, Streptococcus, Haemophilus influenzae). Signs and symptoms include fever, cough with production of brown-red sputum, dyspnea, and chest pain. bronchial pneumonia chest infection - bronchopneumonia chest infection - unspecified bronchopneumonia lobular pneumonia bronchopneumonia MONDO:0005683 Brucellosis is a bacterial infection that spreads from animals to people via unpasteurized dairy products or by exposure to contaminated animal products or infected animals. Animals that are most commonly infected include sheep, cattle, goats, pigs, and dogs. Brucellosis can cause of range of signs and symptoms, some of which may persist or recur. Initial symptoms may include fever, sweats, malaise, anorexia, headache, fatigue, and/or pain in the muscles, joints, and/or back. Symptoms that may persist or recur include fevers, arthritis, swelling of the testicle and scrotum, swelling of the heart (endocarditis), neurologic symptoms (in up to 5% of cases), chronic fatigue, depression, and/or swelling of the liver or spleen. People who are in jobs or settings that increase exposure to the bacteria are at increased risk for infection. Antibiotics are used to treat brucellosis. Recovery may take a few weeks to several months, and relapses are common. Death from brucellosis is rare, occurring in no more than 2% of cases. Maltese fever undulant fever Cyprus fever Gibraltar fever Malta fever Mediterranean fever Rock fever bang's disease brucellosis https://rarediseases.info.nih.gov/diseases/5966/brucellosis MONDO:0005684 A form of paralytic poliomyelitis affecting neurons of the medulla oblongata of the brain stem. Clinical features include impaired respiration, hypertension, alterations of vasomotor control, and dysphagia. Weakness and atrophy of the limbs and trunk due to spinal cord involvement is usually associated. (From Adams et al., Principles of Neurology, 6th ed, p765) bulbar polio bulbar poliomyelitis medullary involvement poliomyelitis polio, bulbar poliomyelitis, medullary involvement bulbar polio MONDO:0005687 Virus diseases caused by caliciviridae. They include hepatitis E; vesicular exanthema of swine; acute respiratory infections in felines, rabbit hemorrhagic disease, and some cases of gastroenteritis in humans. Caliciviridae infection Calicivirus infection Calicivirus infections infection, Caliciviridae infection, Calicivirus infections, Caliciviridae infections, Calicivirus Caliciviridae infectious disease MONDO:0005688 Infections with bacteria of the genus campylobacter. campylobacteriosis MONDO:0005689 Physical and psychological dependence on the drug cannabis. cannabis abuse marijuana abuse marijuana dependence cannabis dependence MONDO:0005690 A combination of rheumatoid arthritis (RA) and pneumoconiosis that manifests as intrapulmonary nodules, which appear homogenous and well-defined on chest X-ray. Caplan syndrome Caplan's disease Caplans syndrome rheumatoid pneumoconiosis Caplan's syndrome Caplan syndrome MONDO:0005691 Infections caused by viruses of the genus cardiovirus, family picornaviridae. Cardiovirus infection infection, Cardiovirus infections, Cardiovirus cardiovirus infectious disease MONDO:0005692 Cat scratch disease is an infectious illness caused by the bacteria bartonella (Bartonella henselae). It is believed to be transmitted by cat scratches, bites, or exposure to cat saliva. This self-limiting infectious diseaseis characterized by a bump or blister at the site of the bite or scratch and swelling and pain in the lymph nodes. Other features may include fatigue, headache, achiness, and fever. Although cat-scratch disease usually subsides without treatment, antibiotic and/or antimicrobial therapy may help speed recovery. Cat-scratch fever Foshay-Mollaret Cat scratch fever bartonellosis due to Bartonella henselae infection benign lymphoreticulosis cat scratch fever debre's syndrome debre-Mollaret syndrome Cat scratch disease cat-scratch disease https://rarediseases.info.nih.gov/diseases/27/cat-scratch-disease MONDO:0005693 Cauda equina syndrome refers to a group of symptoms that occur when some of the nerves in the cauda equina (the bundle of nerves that spread out from the bottom of the spinal cord) become compressed and/or damaged. Signs and symptoms of this condition include pain, numbness, or tingling in the lower back and/or legs; ' foot drop '; problems with bowel and/or bladder control; and sexual dysfunction. Cauda equina syndrome may be caused by a herniated disk, tumor, infection, fracture, or spinal stenosis. Treatment usually targets the underlying cause of the condition and often includes surgery to remove the material that is pressing on the nerves. Physical therapy, occupational therapy, and/or other services may be required if symptoms persist following surgery. cauda equina syndromic disease syndromic disease of cauda equina cauda equina syndrome https://rarediseases.info.nih.gov/diseases/10987/cauda-equina-syndrome MONDO:0005694 A benign or malignant neoplasm that affects the cecum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Cecal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms. caecum neoplasm caecum neoplasm (disease) caecum tumor cecum neoplasm cecum tumor neoplasm of caecum neoplasm of cecum neoplasm of the cecum tumor of caecum tumor of cecum tumor of the cecum cecal benign neoplasm cecal neoplasm MONDO:0005695 Inflammation of arteries in the central nervous system that occurs in patients with acquired immunodeficiency syndrome or aids-related opportunistic infections. AIDS associated cerebral aneurysmal arteriopathy AIDS-associated cerebral aneurysmal arteriopathy CNS Vasculitides, HIV-1-associated CNS Vasculitides, HIV-associated CNS vasculitis, HIV associated CNS vasculitis, HIV-1-associated CNS vasculitis, HIV-associated HIV 1 associated CNS vasculitis HIV associated vasculitis of the central nervous system HIV-1-associated CNS Vasculitides HIV-1-associated CNS vasculitis HIV-associated CNS Vasculitides HIV-associated CNS vasculitis HIV-associated vasculitis of the central nervous system Vasculitides, HIV-1-associated CNS Vasculitides, HIV-associated CNS central nervous system AIDS arteritis cerebral aneurysmal arteriopathy, AIDS associated cerebral aneurysmal arteriopathy, AIDS-associated vasculitis of the central nervous system, HIV associated vasculitis of the central nervous system, HIV-associated vasculitis, HIV-1-associated CNS vasculitis, HIV-associated CNS central nervous system AIDS arteritis MONDO:0005696 A well-circumscribed mass composed of tuberculous granulation tissue that may occur in the cerebral hemispheres, cerebellum, brain stem, or perimeningeal spaces. Multiple lesions are quite common. Management of intracranial manifestations vary with lesion site. Intracranial tuberculomas may be associated with seizures, focal neurologic deficits, and intracranial hypertension. Spinal cord tuberculomas may be associated with localized or radicular pain, weakness, sensory loss, and incontinence. Tuberculomas may arise as opportunistic infections, but also occur in immunocompetent individuals. central nervous system tuberculosis intracranial tuberculoma tuberculoma of brain tuberculosis of meninges and central nervous system tuberculous abscess of brain central nervous system tuberculosis MONDO:0005697 Infections of the brain caused by the protozoan toxoplasma gondii that primarily arise in individuals with immunologic deficiency syndromes (see also aids-related opportunistic infections). The infection may involve the brain diffusely or form discrete abscesses. Clinical manifestations include seizures, altered mentation, headache, focal neurologic deficits, and intracranial hypertension. (From Joynt, Clinical Neurology, 1998, Ch27, pp41-3) Toxoplasma encephalitis encephalitis due to acquired toxoplasmosis meningoencephalitis due to toxoplasmosis cerebral toxoplasmosis MONDO:0005698 A clinical diagnosis presenting with painless cervical dilatation and spontaneous mid-trimester birth in recurrent pregnancies in the absence of spontaneous membrane rupture, bleeding or clinical chorioamnionitis. cervical incompetence MONDO:0005699 A form of actinomycosis characterized by slow-growing inflammatory lesions of the lymph nodes that drain the mouth (lumpy jaw), reddening of the overlying skin, and intraperitoneal abscesses. cervicofacial actinomycotic infection lumpy jaw cervicofacial actinomycosis MONDO:0005700 A contagious childhood disorder caused by the varicella zoster virus. It is transmitted via respiratory secretions and contact with chickenpox blister contents. It presents with a vesicular skin rash, usually associated with fever, headache, and myalgias. The pruritic fluid-filled vesicles occur 10-21 days after exposure and last for 3-4 days. An additional 3-4 days of malaise follows before the affected individual feels better. An individual is contagious 1-2 days prior to the appearance of the blisters until all blisters are crusted over. Generally, healthy individuals recover without complications. Varicella chicken pox chicken pox infection chickenpox varicella chickenpox MONDO:0005701 An infection that is caused by Chlamydia trachomatis. Chlamydia trachomatis caused disease or disorder Chlamydia trachomatis disease or disorder Chlamydia trachomatis infectious disease Chlamydial infection chlamydia trachomatis infectious disease chlamydial disease chlamydia chlamydia trachomatis infectious disease MONDO:0005704 Infections with protozoa of the phylum ciliophora. Ciliophora caused disease or disorder Ciliophora disease or disorder Ciliophora infectious disease MONDO:0005705 Infection of the biliary passages with clonorchis sinensis, also called Opisthorchis sinensis. It may lead to inflammation of the biliary tract, proliferation of biliary epithelium, progressive portal fibrosis, and sometimes bile duct carcinoma. Extension to the liver may lead to fatty changes and cirrhosis. (From Dorland, 27th ed) Oriental liver fluke disease clonorchiasis MONDO:0005706 A fungal infection caused by Coccidioides immitis. Affected individuals usually have mild flu-like symptoms. However, pneumonia and systemic involvement with the formation of abscesses may develop as complications of the disease. California disease Coccidioides immitis caused disease or disorder Coccidioides immitis disease or disorder Coccidioides immitis infectious disease Coccidioides infection San Joaquin valley fever Valley fever desert fever desert rheumatism primary extrapulmonary coccidioidomycosis coccidioidomycosis MONDO:0005707 A parasitic infection caused by Coccidia. It affects livestock, birds and humans. In humans the parasite infests the intestinal tract and may cause watery diarrhea, abdominal pain, fever, nausea and vomiting. coccidiosis (& [intestinal]) intestinal coccidiosis coccidiosis MONDO:0005708 A febrile illness characterized by chills, aches, vomiting, leukopenia, and sometimes encephalitis. It is caused by the colorado tick fever virus, a reovirus transmitted by the tick Dermacentor andersoni. American mountain fever Colorado tick encephalitis Colorado tick fever virus caused disease or disorder Colorado tick fever virus disease or disorder Colorado tick fever virus infectious disease Colorado tick-borne disease Mountain fever Mountain tick fever Tick fever, American mountain Editor note: we follow Orphanet in classifying as enphalitis, but this is not always a feature Colorado tick fever MONDO:0005709 An inflammatory process affecting the nasal mucosa, usually caused by viruses (e.g., rhinovirus, adenovirus, parainfluenza virus, and coronavirus). It is characterized by chills, headaches, mucopurulent nasal discharge, coughing, and facial pain. acute coryza acute nasopharyngitis acute nasopharyngitis [common cold] acute rhinitis acute viral rhinopharyngitis nasopharyngitis - acute nasopharyngitis, acute rhino-sinusitis common cold MONDO:0005710 Coexistence of Hodgkin and non-Hodgkin lymphoma in the same anatomic site. composite Hodgkin and non-Hodgkin lymphoma composite lymphoma composite lymphoma MONDO:0005711 A posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality. https://github.com/monarch-initiative/mondo/issues/4069 diaphragmatic hernia CDH congenital diaphragmatic hernia agenesis of hemidiaphragm congenital diaphragmatic defect unilateral agenesis of diaphragm congenital diaphragmatic hernia MONDO:0005712 Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with albinism and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275) https://github.com/monarch-initiative/mondo/issues/4069 nystagmus congenital idiopathic nystagmus congenital pathologic nystagmus motor congenital nystagmus nystagmus, congenital congenital nystagmus MONDO:0005714 A life-threatening bacterial infection of the newborn caused by Treponema pallidum. It is transmitted to the infant from a mother with syphilis through the placenta during pregnancy. Signs and symptoms include irritability, fever, failure to thrive, saddle nose, cutaneous rash, and pneumonia. https://github.com/monarch-initiative/mondo/issues/4069 MTCT of syphilis congenital syphilis mother-to-child transmission of syphilis congenital syphilis MONDO:0005715 Toxoplasma infection that is present from birth. https://github.com/monarch-initiative/mondo/issues/4069 Toxoplasma embryofetopathy Toxoplasma embryopathy congenital toxoplasmosis mother-to-child transmission of toxoplasmosis toxoplasmosis - congen. toxoplasmosis, congenital congenital toxoplasmosis MONDO:0005716 A pleuropneumonia of cattle and goats caused by species of mycoplasma. contagious pleuropneumonia MONDO:0005717 An infectious dermatitis of sheep and goats, affecting primarily the muzzle and lips. It is caused by a poxvirus and may be transmitted to humans. Orf ecthyma contagiosum ecthyma, Contagious scabby mouth sheep pox thistle disease contagious pustular dermatitis MONDO:0005718 Virus diseases caused by coronaviridae. Coronaviridae infectious disease MONDO:0005719 Virus diseases caused by the coronavirus genus. Some specifics include transmissible enteritis of turkeys (enteritis, transmissible, of turkeys); feline infectious peritonitis; and transmissible gastroenteritis of swine (gastroenteritis, transmissible, of swine). Coronavinae infectious disease MONDO:0005720 A mild, eruptive skin disease of milk cows caused by cowpox virus, with lesions occurring principally on the udder and teats. Human infection may occur while milking an infected animal. yaba cowpox MONDO:0005721 A heterogeneous group of infections produced by coxsackieviruses, including herpangina, aseptic meningitis (meningitis, aseptic), a common-cold-like syndrome, a non-paralytic poliomyelitis-like syndrome, epidemic pleurodynia (pleurodynia, epidemic) and a serious myocarditis. https://github.com/monarch-initiative/mondo/issues/3205 coxsackievirus infectious disease MONDO:0005722 Acute upper respiratory airways infection that results in the swelling of the larynx. It is usually caused by parainfluenza viruses. Signs include a characteristic barking cough and stridor. acute laryngotracheobronchitis acute obstructive laryngitis croup syndrome acute laryngotracheitis croup MONDO:0005723 Meningeal inflammation produced by cryptococcus neoformans, an encapsulated yeast that tends to infect individuals with acquired immunodeficiency syndrome and other immunocompromised states. The organism enters the body through the respiratory tract, but symptomatic infections are usually limited to the lungs and nervous system. The organism may also produce parenchymal brain lesions (torulomas). Clinically, the course is subacute and may feature headache; nausea; photophobia; focal neurologic deficits; seizures; cranial neuropathies; and hydrocephalus. (From Adams et al., Principles of Neurology, 6th ed, pp721-2) Cryptococcus neoformans caused infectious meningitis Cryptococcus neoformans infectious meningitis Cryptococcal meningitis MONDO:0005724 An acute or chronic, localized or disseminated infection by Cryptococcus neoformans. Sites of involvement include the lungs, central nervous system and meninges, skin, and visceral organs.--2004 Busse-Buschke's disease Cryptococcal infection Cryptococcus neoformans caused disease or disorder Cryptococcus neoformans disease or disorder Cryptococcus neoformans infectious disease European cryptococcosis torula torulosis cryptococcus neoformans infection cryptococcosis https://rarediseases.info.nih.gov/diseases/6218/cryptococcosis MONDO:0005725 A protozoan infection that is caused by Cyclospora cayetanensis, which is most commonly acquired from contaminated food or water, and which is characterized by watery diarrhea and abdominal pain. https://github.com/monarch-initiative/mondo/issues/3694 Cyclospora caused disease or disorder Cyclospora cayetanensis caused disease or disorder Cyclospora cayetanensis disease or disorder Cyclospora cayetanensis infectious disease Cyclospora disease or disorder Cyclospora infectious disease cyclosporosis infection of intestine caused by Cyclospora cayetanensis intestinal infection caused by Cyclospora cayetanensis Cyclospora infection cyclosporiasis MONDO:0005728 A disease involving the diaphragm. diaphragm disease diaphragm disease or disorder disease of diaphragm disease or disorder of diaphragm disorder of diaphragm diaphragmatic disease diaphragmatic disorder diaphragm disorder MONDO:0005729 Infection with flukes of the genus Dicrocoelium. Dicrocoelium caused disease or disorder Dicrocoelium disease or disorder Dicrocoelium infectious disease disease due to Dicrocoeliidae dicrocoeliasis MONDO:0005731 A parasitic infection caused by genus of filarial worms called Dipetalonema. It produces microfilariae in the blood and body fluids. Dipetalonema infection Dipetalonema infections Dipetalonema infectious disease Mansonella perstans caused disease or disorder Mansonella perstans disease or disorder Mansonella perstans infectious disease dipetalonemiasis infection by Dipetalonema infection by Dipetalonema perstans infection by Dipetalonema perstans (disorder) [ambiguous] Acanthocheilonema perstans infection Acanthocheilonemiasis Mansonella perstans Editor note: check taxonomy; Acanthocheilonema perstans and Dipetalonema perstans appear to be synonyms dipetalonemiasis MONDO:0005736 Eastern equine encephalitis (EEE) is an acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that is characterized by the onset of flulike symptoms including fever, chills, weakness, headache, vomiting, abdominal pain with diarrhea, myalgia, leucocytosis, and hematuria, rapidly progressing to diffuse central nervous system (CNS) involvement with confusion, somnolence, or even coma. Seizures, which may progress to status epilepticus and neurologic sequelae, cranial nerve palsies, and photophobia may occur. EEE is associated with a high rate of morbidity and mortality. Eastern equine encephalomyelitis Neuroinvasive Eastern equine encephalitis virus infection EEE eastern equine encephalitis https://rarediseases.info.nih.gov/diseases/10821/eastern-equine-encephalitis MONDO:0005737 A viral hemorrhagic fever that is caused by the Ebola virus, which is transmitted by contact with infected animals or humans; it is characterized by high fever, unexplained bleeding, and a high mortality rate. EHF Ebola Ebola fever Ebola virus disease Ebolavirus caused disease or disorder Ebolavirus disease or disorder Ebolavirus infectious disease Ebola hemorrhagic fever MONDO:0005738 A parasitic infection caused by tapeworm larvae of Echinococcus. It affects livestock and humans. It is characterized by the formation of hydatid cysts mainly in the liver, lungs, spleen, and kidneys. Rupture of the cysts may lead to shock. Echinococcus caused disease or disorder Echinococcus disease or disorder Echinococcus infectious disease echinococcosis echinococcosis of liver liver echinococcus echinococcal disease echinococcosis, unspecified, of liver hepatic echinococcosis hydatid disease hydatidosis pulmonary echinococcosis echinococciasis echinococcus disease echinococcosis MONDO:0005739 Infection by flukes of the genus Echinostoma. Echinostomatoidea caused disease or disorder Echinostomatoidea disease or disorder Echinostomatoidea infectious disease infection by Echinochasmus echinostomiasis MONDO:0005740 Infectious disease processes, including meningitis, diarrhea, and respiratory disorders, caused by echoviruses. Echovirus caused disease or disorder Echovirus disease or disorder Echovirus infection echo Virus infection echo Virus infections infection, Echovirus infection, echo Virus infections, Echovirus infections, echo Virus Echovirus infectious disease MONDO:0005742 Cholecystitis resulting from infection by gas producing organisms. gaseous pericholecystitis emphysematous cholecystitis MONDO:0005743 Infection with fungi of the genus encephalitozoon. Lesions commonly occur in the brain and kidney tubules. Other sites of infection in mammals are the liver; adrenal glands; optic nerves; retina; and myocardium. infection by Encephalitozoon encephalitozoonosis MONDO:0005744 A non-seminomatous malignant germ cell tumor composed of primitive germ cells. It is the most common malignant germ cell tumor in the pediatric population. It occurs in the infant testis, ovary, sacrococcygeal region, vagina, uterus, prostate, abdomen, liver, retroperitoneum, thorax, and pineal/third ventricle. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). Treatment includes: surgical resection, radiation, and chemotherapy. This tumor is very responsive to chemotherapy regimens that include cisplatinum. endodermal sinus neoplasm endodermal sinus tumor hepatoid yolk sac tumour yolk SAC tumor, malignant yolk Sac neoplasm yolk Sac tumor yolk Sac tumor site unspecified yolk Sac tumour site unspecified yolk sac tumor infantile embryonal carcinoma yolk sac tumor MONDO:0005745 Infections with nematodes of the order enoplida. Enoplea caused disease or disorder Enoplea disease or disorder Enoplea infectious disease MONDO:0005746 An infection that is caused by the nematode Enterobius vermicularis; it is characterized predominantly by perianal pruritus. Enterobius vermicularis caused disease or disorder Enterobius vermicularis disease or disorder Enterobius vermicularis infectious disease Oxyuris vermicularis infection threadworm infection Enterobius vermicularis infection oxyuriasis pinworm infection enterobiasis MONDO:0005747 An disease caused by infection with Enterovirus. Enterovirus caused disease or disorder Enterovirus disease or disorder Enterovirus infectious disease disease due to enterovirus enterovirus infectious disease Enterovirus infection disease caused by enterovirus enteroviral infection enterovirus infection infection, Enterovirus infections, Enterovirus enterovirus infectious disease MONDO:0005749 An inflammatory lung disorder characterized by an increased number of eosinophils in the lungs. The majority of cases are idiopathic, without identifiable cause. In a minority of cases, medications, fungal infections, and environmental triggers have been implicated. It manifests as acute or chronic. Acute eosinophilic pneumonia is a severe and rapidly progressing pneumonia that may lead to respiratory failure requiring mechanical ventilation. Chronic eosinophilic pneumonia follows a slower course and manifests as fever, dyspnea, cough, and weight loss. eosinophilic pneumonia pneumonia, eosinophilic eosinophilic pneumonia MONDO:0005751 An acute, febrile, infectious disease generally occurring in epidemics. It is usually caused by coxsackieviruses B and sometimes by coxsackieviruses A; echoviruses; or other enteroviruses. Bamble disease Bornholm disease devil's grip epidemic myalgia epidemic pleurisy epidemic, myositis epidemic pleurodynia MONDO:0005752 Circumscribed collections of suppurative material occurring in the spinal or intracranial epidural space. The majority of epidural abscesses occur in the spinal canal and are associated with osteomyelitis of a vertebral body; analgesia, epidural; and other conditions. Clinical manifestations include local and radicular pain, weakness, sensory loss, urinary incontinence, and fecal incontinence. Cranial epidural abscesses are usually associated with osteomyelitis of a cranial bone, sinusitis, or otitis media. (From Adams et al., Principles of Neurology, 6th ed, p710 and pp1240-1; J Neurol Neurosurg Psychiatry 1998 Aug;65(2):209-12) abscess epidural extradural intraspinal abscess intraspinal epidural abscess intraspinal extradural abscess spinal epidural abscess spinal epidural abscess (disorder) spinal extradural abscess epidural abscess MONDO:0005753 Inflammation of the epiglottis. acute epiglottitis and supraglottitis inflammation of mucosa of epiglottis mucosa of epiglottis inflammation supraglottitis epiglottitis MONDO:0005754 A generalized tonic-clonic seizure. epileptic seizures, tonic-clonic grand Mal epilepsy tonic-clonic epilepsy epilepsy with generalized tonic-clonic seizures MONDO:0005756 An acute or chronic inflammatory process affecting the mucous membrane of the ethmoid sinus. ethmoid bone sinusitis ethmoidal sinusitis ethmoiditis sinusitis of ethmoid bone ethmoid sinusitis MONDO:0005757 A chronic granulomatous inflammation involving the deep dermis and the subcutaneous tissues. It is caused by fungi and actinomycetes. Madura foot Maduromycosis, mycotic eumycetoma maduromycosis mycotic mycetoma eumycotic mycetoma MONDO:0005758 The state of being a eunuch, a male without testes or whose testes failed to develop. It is characterized by the lack of mature male germ cells and testicular hormones. Primary testicular failure Male hypergonadotropic hypogonadism hypergonadotropic hypogonadism (Male) eunuchism MONDO:0005759 Infection of cattle and other herbivores with the giant liver fluke Fascioloides magna. It is characterized by extensive destruction of the liver parenchyma. fascioloidiasis MONDO:0005761 Parasitic infestation of the human lymphatic system by wuchereria bancrofti or brugia malayi. It is also called lymphatic filariasis. elephantiasis Bancroftian elephantiasis Bancroftian filarial chyluria elephantiasis of eyelid eyelid elephantiasis Bancroftian filariasis Malayi tropical eosinphilia Wuchereria Bancrofti infection Wuchereriasis filarial elephantiasis MONDO:0005762 Infections with viruses of the family filoviridae. The infections in humans consist of a variety of clinically similar viral hemorrhagic fevers but the natural reservoir host is unknown. Filoviridae caused disease or disorder Filoviridae disease or disorder Filoviridae infectious disease MONDO:0005763 Infections with viruses of the family flaviviridae. Flaviviridae caused disease or disorder Flaviviridae disease or disorder Flaviviridae infectious disease MONDO:0005764 A neoplasm composed of spindle to ovoid cells which have morphologic and immunophenotypic characteristics of follicular dendritic cells. It affects lymph nodes and other sites including the tonsils, gastrointestinal tract, spleen, liver, soft tissues, skin, and oral cavity. It usually behaves as a low grade sarcoma. Treatment options include complete surgical removal of the tumor with or without adjuvant chemotherapy or radiotherapy. Recurrences have been reported in up to half of the cases. follicular Dendritic cell sarcoma follicular Dendritic cell sarcoma/tumor follicular dendritic cell sarcoma follicular dendritic cell tumour sarcoma of follicular dendritic cell follicular dendritic cell sarcoma MONDO:0005766 Pulmonary diseases caused by fungal infections, usually through hematogenous spread. Fungi caused lung disease Fungi lung disease fungal disease, pulmonary fungal diseases, pulmonary fungal infection, pulmonary fungal infections, pulmonary fungal lung disease fungal lung diseases lung disease, fungal pulmonary fungal disease pulmonary fungal diseases pulmonary fungal infection pulmonary fungal infections fungal lung infectious disease MONDO:0005767 A severe condition resulting from bacteria invading healthy muscle from adjacent traumatized muscle or soft tissue. The infection originates in a wound contaminated with bacteria of the genus clostridium. C. perfringens accounts for the majority of cases (over eighty percent), while C. noyvi, C. septicum, and C. histolyticum cause most of the other cases. gas bacillus infection gas gangrene myonecrosis gas gangrene MONDO:0005768 Tuberculosis that involves any region of the gastrointestinal tract, mostly in the distal ileum and the cecum. In most cases, mycobacterium tuberculosis is the pathogen. Clinical features include abdominal pain; fever; and palpable mass in the ileocecal area. https://github.com/monarch-initiative/mondo/issues/4143 tuberculosis of gastrointestinal tract tuberculosis of intestines, peritoneum and mesenteric glands tuberculosis of intestines, peritoneum, and mesenteric glands gastrointestinal tuberculosis MONDO:0005769 A viral ear infection caused by the spread of varicella-zoster virus to the facial nerves. It is characterized by intense otalgia and a cutaneous vesicular eruption. https://github.com/monarch-initiative/mondo/issues/4637 Herpes Zoster Oticus Herpes zoster auricularis Ramsay Hunt syndrome Ramsey Hunt syndrome facial nerve palsy due to VZV facial nerve palsy due to herpes zoster infection facial nerve paralysis due to VZV geniculate neuralgia herpetic geniculate ganglionitis nervus intermedius neuralgia Hunt syndrome (formerly) Hunt's syndrome (formerly) Ramsay Hunt syndrome type 2 Ramsay Hunt syndrome type 2 (formerly) Ramsay Hunt syndrome type II geniculate herpes zoster MONDO:0005770 Herpes simplex infection of the genitals, most commonly caused by the herpes simplex-2 virus. https://github.com/monarch-initiative/mondo/issues/3348 genital herpes simplex herpes genitalia herpes genitalis venereal herpes virus-genital herpes genital herpes MONDO:0005771 A benign condition characterized by the development of irregular patches in the surface of the tongue resulting in a map-like appearance. The patches migrate from day to day and usually resolve without treatment. Pityriasis linguae benign migratory glossitis glossitis areata exfoliativa geographic tongue MONDO:0005772 Infection due to the fungus Geotrichum. geotrichosis MONDO:0005773 Gerstmann syndrome is a very rare neurological disorder characterized by the specific association of acalculia, finger agnosia, left-right disorientation, and agraphia, which is supposed to be secondary to a focal subcortical white matter damage in the parietal lobe. aphasia-angular gyrus syndrome GS Gerstmann Badal syndrome Gerstmann tetrad developmental Gerstmann syndrome Gerstmann syndrome https://rarediseases.info.nih.gov/diseases/8660/gerstmann-syndrome MONDO:0005774 A condition resulting from infection by Burkholderia mallei, which mainly affects horses. Burkholderia mallei caused disease or disorder Burkholderia mallei disease or disorder Burkholderia mallei infectious disease farcy pipes infection due to Pseudomonas mallei Burkholderia mallei Burkholderia mallei infection glanders https://rarediseases.info.nih.gov/diseases/9536/glanders MONDO:0005775 An X-linked recessive inherited disorder caused by mutations in the G6PD gene. It is characterized by the absence or presence of very low levels of glucose-6-phosphate dehydrogenase. Patients develop hemolytic anemia usually in response to infection or exposure to drugs. G-6-PD variant enzyme deficiency Anemia G6PD G6PD deficiency deficiency of G-6PD glucose-6-phosphate dehydrogenase deficiency glucosephosphate dehydrogenase deficiency inborn error of glucose-6-phosphate dehydrogenase activity inborn glucose-6-phosphate dehydrogenase activity disorder rare inborn error of glucose-6-phosphate dehydrogenase activity G6PD deficiency MONDO:0005776 An infection that is caused by nematodes of the genus Gnathostoma, which is commonly found in Southeast Asia, and which is transmitted via the consumption of contaminated raw/undercooked birds, eels, fish, frogs, or reptiles. The pattern of symptoms is species-dependent, and extraintestinal manifestations are due to larval migration (e.g., pulmonary infiltrates, eosinophilic meningitis, or painful, pruritic subcutaneous swellings, and peripheral blood eosinophilia). Gnathostomiasis infectious disease by Gnathostoma Gnathostoma infection gnathomiasis MONDO:0005777 A condition resulting from infection by Klebsiella granulomati, which is characterized by ulcerative lesions of the genitalia. donovanosis granuloma inguinale pudendal ulcer granuloma inguinale https://rarediseases.info.nih.gov/diseases/9532/granuloma-inguinale MONDO:0005778 Infection with nematodes of the genus haemonchus, characterized by digestive abnormalities and anemia similar to that from hookworm infestation. haemonchiasis MONDO:0005779 A clinical syndrome that is usually caused by enterovirus infection, and that is characterized by fever, anorexia, and painful sores in the mouth, distal extremities, and/or other sites, including the buttocks. https://github.com/monarch-initiative/mondo/issues/3205 HFMD hand foot and mouth disease hand, foot, and mouth disease vesicular stomatitis and exanthem hand, foot and mouth disease MONDO:0005780 Any infection caused by a virus of the genus Hantavirus, which is transmitted by aerosolized rodent excreta or rodent bites, that can result in a variety of clinical manifestations from hemorrhagic fever with renal syndrome to a pulmonary syndrome. Hantavirus caused disease or disorder Hantavirus disease or disorder Hantavirus infection Hantavirus infectious disease disease due to hantavirus disease caused by hantavirus infections, Hantavirus hantavirus infectious disease MONDO:0005783 An accumulation of blood within the pericardial sac. hemopericardium (disease) haemopericardium hemopericardium hemopericardium (disease) hemopericardium MONDO:0005784 A disorder caused by hantaviruses of the family Bunyaviridae. It is transmitted by rodents and is manifested with fever, hemorrhage, and renal failure. Other symptoms include headaches, abdominal and back pain, and blurred vision. HFRS hemorrhagic nephrosonephritis Puumala virus nephropathy hemorrhagic fever, Russian hemorrhagic fever with renal syndrome hantavirus hemorrhagic fever with renal syndrome MONDO:0005785 Infections with viruses of the genus henipavirus, family paramyxoviridae. Henipavirus caused disease or disorder Henipavirus disease or disorder Henipavirus infectious disease henipavirus infectious disease MONDO:0005786 Virus diseases caused by the hepadnaviridae. Hepadnaviridae caused disease or disorder Hepadnaviridae disease or disorder Hepadnaviridae infectious disease MONDO:0005787 Infection of the liver with species of mycobacterium, most often mycobacterium tuberculosis. It is characterized by localized small tuberculous miliary lesions or tumor-like mass (tuberculoma), and abnormalities in liver function tests. tuberculosis of liver hepatic tuberculosis MONDO:0005788 Acute inflammation of the liver in humans; caused by hepatitis E virus, a non-enveloped single-stranded rna virus. Similar to hepatitis A, its incubation period is 15-60 days and is enterically transmitted, usually by fecal-oral transmission. Hepatitis E virus caused hepatitis Hepatitis E virus hepatitis hepatitis type E hepatitis E virus infection https://rarediseases.info.nih.gov/diseases/9541/hepatitis-e MONDO:0005789 Inflammation of the liver in humans caused by hepatitis delta virus, a defective RNA virus that can only infect hepatitis B patients. For its viral coating, hepatitis delta virus requires the hepatitis B surface antigens produced by these patients. Hepatitis D can occur either concomitantly with (coinfection) or subsequent to (superinfection) hepatitis B infection. Similar to hepatitis B, it is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact. HDV Hepatitis D virus Hepatitis delta virus caused hepatitis Hepatitis delta virus hepatitis delta hepatitis hepatitis delta hepatitis type D hepatitis D virus infection MONDO:0005790 Acute inflammation of the liver caused by the hepatitis A virus. It is highly contagious and usually contracted through close contact with an infected individual or their feces, contaminated food or water. Hepatitis A Hepatitis A infection hepatitis type A viral hepatitis, type A viral hepatitis A hepatitis A virus infection MONDO:0005791 A viral infectious disease that results in infection located in mouth, has material basis in Human coxsackievirus A16, has material basis in Human enterovirus 71, has material basis in group B coxsackievirus, or has material basis in echoviruses, which are transmitted by ingestion of food contaminated with feces, transmitted by contact with pharyngeal secretions, or transmitted by droplet spread of oronasal secretions. The infection has symptom fever, has symptom sore throat, and has symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars. vesicular pharyngitis herpangina MONDO:0005792 Stomatitis caused by Herpesvirus hominis. It usually occurs as acute herpetic stomatitis (or gingivostomatitis), an oral manifestation of primary herpes simplex seen primarily in children and adolescents. Simplexvirus caused stomatitis Simplexvirus stomatitis Gingivostomatitides, herpetic Gingivostomatitis, herpetic Herpes simplex, oral Stomatitides, herpetic herpetic Gingivostomatitides herpetic Gingivostomatitis herpetic Stomatitides herpetic stomatitis oral Herpes simplex simplex, oral Herpes herpes simplex virus gingivostomatitis MONDO:0005794 Virus diseases caused by the herpesviridae. Herpesviridae caused disease or disorder Herpesviridae disease or disorder Herpesviridae infections herpesvirus infection Herpesviridae infection Herpesvirus infection Herpesvirus infections herpes infection infection, Herpesviridae infection, Herpesvirus infections, Herpesviridae infections, Herpesvirus Herpesviridae infectious disease MONDO:0005796 A syndrome characterized by chronic, well-established diarrhea (greater than one month in duration) without an identified infectious cause after thorough evaluation, in an hiv-positive individual. It is thought to be due to direct or indirect effects of hiv on the enteric mucosa. hiv enteropathy is a diagnosis of exclusion and can be made only after other forms of diarrheal illness have been ruled out. (Harrison's Principles of Internal Medicine, 13th ed, pp1607-8; Haubrich et al., Bockus Gastroenterology, 5th ed, p1155) HIV enteropathy MONDO:0005797 Involuntary weight loss of greater than 10 percent associated with intermittent or constant fever and chronic diarrhea or fatigue for more than 30 days in the absence of a defined cause other than hiv infection. A constant feature is major muscle wasting with scattered myofiber degeneration. A variety of etiologies, which vary among patients, contributes to this syndrome. (From Harrison's Principles of Internal Medicine, 13th ed, p1611). HIV wasting syndrome MONDO:0005798 Renal disease in human immunodeficiency virus (HIV)-infected patients. It is characterized by nephrotic syndrome, azotemia, normal to large kidneys on ultrasound images, and focal segmental glomerulosclerosis on renal biopsy findings. AIDS-associated nephropathy AIDS-related nephropathy HIV nephropathy HIVAN HIV-associated nephropathy MONDO:0005799 Infection of humans or animals with hookworms other than those caused by the genus Ancylostoma or Necator, for which the specific terms ancylostomiasis and necatoriasis are available. Bunostomiases Bunostomiasis hookworm infection infection, hookworm infections, hookworm Editor note: TODO hookworm infectious disease MONDO:0005800 An acute, localized swelling of the eyelid that may be external or internal and usually is a pyogenic (typically staphylococcal) infection or abscess. Stye blepharitis of eyelid gland boil of eyelid eyelid gland blepharitis furuncle of eyelid hordeolum MONDO:0005801 A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has material basis in Human T-lymphotropic virus 1, which is transmitted by sexual contact, transmitted by contaminated needles used by intravenous-drug users, and transmitted by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder. Human T-lymphotropic virus 1 caused disease or disorder Human T-lymphotropic virus 1 disease or disorder Human T-lymphotropic virus 1 infectious disease human T-lymphotropic virus 1 infectious disease HTLV-1 Human T lymphotropic virus type 1 human T-lymphotropic virus 1 infectious disease MONDO:0005802 A parasitic infection caused by tapeworms. Most infected individuals do not have symptoms. When symptoms appear, they include diarrhea, abdominal pain, restlessness, and irritability. Hymenolepis infectious disease dwarf tapeworm infection hymenolepiasis Hymenolepsis infection hymenolepiasis https://rarediseases.info.nih.gov/diseases/2787/hymenolepiasis MONDO:0005803 An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the pancreas and congenital hyperinsulinism. It is due to focal hyperplasia of pancreatic islet cells budding off from the ductal structures and forming new islets of langerhans. Mutations in the islet cells involve the potassium channel gene kcnj11 or the atp-binding cassette transporter gene abcc8, both on chromosome 11. https://github.com/monarch-initiative/mondo/issues/3649 hyperinsulinemic hypoglycemia (disease) hyperinsulinemia hypoglycemia hyperinsulinemic hypoglycemia (disease) islet cell hyperplasia persistent hyperinsulinemia hypoglycemia of infancy nesidioblastosis hyperinsulinemic hypoglycemia MONDO:0005804 Abnormally high level of prolactin in the blood. hyperprolactinemia (disease) hyperprolactinaemia hyperprolactinemia hyperprolactinemia (disease) hyperprolactinemias hypersecretion syndrome, prolactin inappropriate prolactin secretion inappropriate prolactin secretion syndrome inappropriate secretion prolactin prolactin hypersecretion syndrome prolactin secretion, inappropriate prolactin, inappropriate secretion secretion prolactin, inappropriate secretion, inappropriate prolactin syndrome, prolactin hypersecretion hyperprolactinemia MONDO:0005805 Infestation with larvae of the genus Hypoderma, the warble fly. Oestridae caused disease or disorder Oestridae disease or disorder Oestridae infectious disease hypodermyiasis MONDO:0005806 A primary or metastatic malignant neoplasm that affects the hypopharynx. hypopharyngeal cancer hypopharynx pharynx cancer hypural pharynx cancer malignant hypopharyngeal neoplasm malignant hypopharyngeal tumor malignant neoplasm of hypopharynx malignant neoplasm of ill-defined sites within the lip and oral cavity malignant neoplasm of other specified hypopharyngeal site malignant neoplasm of other specified sites of hypopharynx malignant neoplasm of posterior hypopharyngeal wall malignant neoplasm of posterior wall of hypopharynx malignant neoplasm of the hypopharynx malignant tumor of hypopharynx malignant tumor of posterior wall of hypopharynx malignant tumor of the hypopharynx malignant tumour of hypopharynx pharynx cancer of hypopharynx hypopharynx cancer MONDO:0005807 A rare immunodeficiency syndrome characterized by the decrease of the CD4-positive lymphocytes below 300 per cubic millimeter in the absence of identifiable immunodeficiency causes. Patients with this syndrome are at an increased risk of opportunistic infections. idiopathic CD4-positive T-lymphocytopenia MONDO:0005808 Inflammation of the conjunctiva in a newborn due to Chlamydia trachomatis which was acquired during labor and delivery. Chlamydial conjunctivitis Trachoma adult inclusion conjunctivitis inclusion blennorrhoea inclusion blenorrhea neonatal Chlamydia conjunctivitis Paratrachoma inclusion conjunctivitis https://rarediseases.info.nih.gov/diseases/6777/inclusion-conjunctivitis MONDO:0005810 A condition characterized by an increase in mononuclear white blood cells and swollen lymph nodes, which is usually caused by infection with the Epstein-Barr virus. Filatov's disease Gammaherpesviral mononucleosis Mono Pfeiffer's disease glandular fever monocytic angina mononucleosis infectious mononucleosis MONDO:0005812 An acute viral infection of the respiratory tract, occurring in isolated cases, in epidemics, or in pandemics; it is caused by serologically different strains of viruses (influenzaviruses) designated A, B, and C, has a 3-day incubation period, and usually lasts for 3 to 10 days. It is marked by inflammation of the nasal mucosa, pharynx, and conjunctiva; headache; myalgia; often fever, chills, and prostration; and occasionally involvement of the myocardium or central nervous system. Influenza with other manifestations flu influenza infection influenza with non-respiratory manifestation orthomyxoviridae caused disease or disorder orthomyxoviridae disease or disorder orthomyxoviridae infectious disease influenza MONDO:0005813 A neoplastic proliferation of spindle to ovoid cells which show phenotypic features similar to those of interdigitating dendritic cells. The clinical course is generally aggressive. (WHO, 2008) interdigitating cell sarcoma interdigitating Dendritic cell sarcoma interdigitating Dendritic cell sarcoma/tumor interdigitating cell sarcoma/tumor interdigitating dendritic cell sarcoma MONDO:0005814 A malignant neoplasm involving the intestine bowel cancer cancer of intestine cancer of the intestine intestinal cancer intestinal neoplasms, malignant intestinal tumors, malignant intestine cancer malignant intestinal neoplasm malignant intestinal neoplasms malignant intestinal tumor malignant intestinal tumors malignant intestine neoplasm malignant intestine tumor malignant neoplasm of intestine malignant neoplasm of the intestine malignant tumor of intestine malignant tumor of the intestine intestinal cancer MONDO:0005815 A neoplasm with neuroendocrine differentiation that arises from the pancreas. It includes neuroendocrine tumors (low and intermediate grade) and neuroendocrine carcinomas (high grade). PNEN endocrine pancreas neoplasm endocrine pancreas neoplasm (disease) endocrine pancreas tumor malignant tumor of endocrine pancreas neoplasm of endocrine pancreas pancreatic NEN pancreatic endocrine neoplasm pancreatic neuroendocrine neoplasm tumor of endocrine pancreas Islet cell tumors endocrine pancreas cancer islet cell neoplasm islet cell tumor islet cell tumour malignant pancreatic endocrine tumor Islet of Langerhans tumor neuroendocrine neoplasm of pancreas Editor note: classified as carcinoma in EFO pancreatic neuroendocrine neoplasm MONDO:0005817 Kluver Bucy syndrome is a rare behavioral impairment characterized byinappropriate sexual behaviors and mouthing of objects. Other signs and symptoms, includea diminished ability to visually recognize objects,loss of normal fear and anger responses, memory loss, distractibility, seizures, and dementia. It is associated with damage to the anterior temporal lobes of the brain. Cases have been reported in association with herpes encephalitis and head trauma. Treatment is symptomatic and may include the use of psychotropic medications. KLüver-Bucy syndrome Klver-Bucy syndrome KLuever-Bucy syndrome Kluver Bucy syndrome bilateral temporal lobe disorder memory loss, extreme sexual behavior, placidity, and visual distractibility post-encephalitic Kluver Bucy syndrome (type) post-traumatic Kluver Bucy syndrome (type) syndrome, Kluver-Bucy temporal lobectomy behavior syndrome Kluver-Bucy syndrome https://rarediseases.info.nih.gov/diseases/6840/kluver-bucy-syndrome MONDO:0005819 Extrapulmonary tuberculosis involving the larynx. Signs and symptoms include hoarseness, cough, and odynophagia. The condition is rare. https://github.com/monarch-initiative/mondo/issues/4143 larynx tuberculosis tuberculous laryngitis laryngeal tuberculosis MONDO:0005820 A viral hemorrhagic fever that is caused by the Lassa virus, which is transmitted by contact with infected rodents; it is characterized by fever, headache, malaise, myalgia, and hearing loss. LF Lassa hemorrhagic fever Lassa fever MONDO:0005821 late congenital syphilis late congenital syphilis (2 years or more) juvenile neurosyphilis juvenile syphilis late congenital syphilis, symptomatic (2 years or more) late congenital syphilis MONDO:0005822 A stage of syphilis characterized by the serologic evidence of infection by Treponema pallidum without evidence of accompanying signs or symptoms related to the disease. latent syphilis MONDO:0005823 Any disease caused by Legionella bacteria. Legionella infection Legionnaires disease legionellosis MONDO:0005824 A pneumonia caused by Legionella pneumophila and other Legionella species, which is characterized by fever, cough, progressive respiratory distress, and which is often accompanied by extrapulmonary manifestations. Legionella Legionella pneumonia infection by Legionella pneumophilia legionnaire's disease Legionnaires' disease MONDO:0005825 A contagious bacterial infection caused by spirochetes of the genus Leptospira. Humans are infected by contact with water and soil which have been contaminated with animal waste products. The signs and symptoms include an initial flu-like phase, followed by a second phase in which patients may develop meningitis, liver failure and renal failure. Leptospira caused disease or disorder Leptospira disease or disorder Leptospira infectious disease fort Bragg fever leptospirosis leptospirosis icterohaemorrhagica nanukayami fever rat catcher's yellows spirochetal jaundice Icterohemorrhagic fever Queensland fever Stuttgart disease Weil disease cane cutter's fever cane-cutter fever canicola fever harvest fever hemorrhagic jaundice infection due to Leptospira japanese autumnal fever mud fever rice-field fever rice-field worker's disease seven day fever swamp fever swineherd's disease leptospirosis https://rarediseases.info.nih.gov/diseases/7881/leptospirosis MONDO:0005826 Pneumonia due to aspiration or inhalation of various oily or fatty substances. exogenous lipoid pneumonia lipoid pneumonitis lipoidpneumonitis cholesterol pneumonia pneumonia lipid lipid pneumonia MONDO:0005827 A rare syndrome characterized by almost complete absence of body fat, accentuated muscularity, insulin-resistant diabetes, hyperlipidemia, hepatomegaly, and hypermetabolism. diabete, lipoatrophic lipoatrophic diabetes diabetes, lipoatrophic lipoatrophic diabete lipoatrophic diabetes mellitus lipoatrophic diabetes MONDO:0005828 A bacterial infection caused by Listeria monocytogenes. It occurs in newborns, elderly, and immunocompromised patients. The bacteria are transmitted through ingestion of contaminated food. Clinical manifestations include fever, muscle pain, respiratory distress, nausea, diarrhea, neck stiffness, irritability, seizures, and lethargy. Listeria infection Listeria monocytogenes caused disease or disorder Listeria monocytogenes disease or disorder Listeria monocytogenes infectious disease infection by Listeria monocytogenes Listeria monocytogenes infection listeriosis MONDO:0005830 A poxvirus infection of cattle characterized by the appearance of nodules on all parts of the skin. lumpy skin disease MONDO:0005831 Tuberculosis of the lymph node. king's evil lymph node tuberculosis scrofula tuberculous adenitis tuberculous lymphadenopathy lymph node tuberculosis MONDO:0005832 Inflammation of the lymphatic vessels. inflammation of lymphatic vessel lymphatic vessel inflammation lymphangitis MONDO:0005833 A disease involving the lymphatic part of lymphoid system. disease of lymphatic part of lymphoid system disease or disorder of lymphatic part of lymphoid system disorder of lymph node and lymphatics disorder of lymphatic part of lymphoid system disorder of lymphatic system glands, swollen lymphatic disease lymphatic disorder lymphatic part of lymphoid system disease lymphatic part of lymphoid system disease or disorder swollen gland swollen glands lymphadenopathy lymphangiopathy adenopathy disease of lympoid system disorder of lymphoid system lympoid system disease Editor note: check alignment to anatomy, consider lymphoid system disease lymphatic system disorder MONDO:0005834 Infection with the organism Mycobacterium. Durand-Nicolas-Favre disease Poradenitis inguinale climatic or tropical bubo lymph granuloma inguinale lymphogranuloma inguinale strumous bubo LGV lymphogranuloma venereum https://rarediseases.info.nih.gov/diseases/9545/lymphogranuloma-venereum MONDO:0005835 An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present. https://github.com/monarch-initiative/mondo/issues/1673 HNPCC - hereditary nonpolyposis colon cancer hereditary nonpolyposis colorectal cancer hereditary nonpolyposis colorectal neoplasm Hereditary colorectal endometrial cancer syndrome Hereditary non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2) Hereditary nonpolyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2) Lynch syndrome familial non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2) hereditary defective mismatch repair syndrome hereditary non-polyposis colon cancer type 1 Sometimes Lynch syndrome is also referred to as hereditary non-polyposis colorectal cancer (HNPCC), but the two conditions are subtly different. Lynch syndrome is classified by a mutation in mismatch repair genes. It is diagnosed by specific criteria known as the Amsterdam criteria. Lynch syndrome https://my.clevelandclinic.org/health/diseases/17195-lynch-syndrome--hnpcc https://www.sciencedirect.com/topics/medicine-and-dentistry/amsterdam-criteria MONDO:0005836 A primary or metastatic malignant neoplasm involving the male reproductive system. Representative examples include prostate carcinoma, penile carcinoma, testicular seminoma, and testicular embryonal carcinoma. male genital neoplasm male reproductive system neoplasm neoplasm of male genital organ tumor of male reproductive system cancer of male reproductive organ male genital cancer male reproductive organ cancer malignant Male reproductive system neoplasm malignant Male reproductive system tumor malignant male reproductive organ neoplasm malignant neoplasm of Male reproductive system malignant neoplasm of male genital organ malignant neoplasm of male genital organ or tract malignant neoplasm of male genital organ, site unspecified malignant neoplasm of male genital organs malignant neoplasm of male reproductive organ malignant neoplasm of the Male reproductive system malignant tumor of Male reproductive system malignant tumor of male genital organ malignant tumor of male reproductive system malignant tumor of the Male reproductive system male reproductive organ cancer MONDO:0005837 A malignant neoplasm involving the mandible mandibular neoplasm neoplasm of mandible cancer of mandible malignant mandible neoplasm malignant neoplasm of inferior maxilla malignant neoplasm of lower jaw bone malignant neoplasm of mandible mandible cancer mandibular cancer MONDO:0005838 A parasitic infection caused by the nematode Mansonella. Signs and symptoms include pruritus, headache, fever, arthralgias, and eosinophilia. Mansonellosis Mansonella perstans infections mansonelliasis https://rarediseases.info.nih.gov/diseases/8216/mansonelliasis MONDO:0005841 Cancer or tumors of the maxilla or upper jaw. bone of upper jaw neoplasm bone of upper jaw neoplasm (disease) bone of upper jaw tumor maxillary neoplasm neoplasm of bone of upper jaw tumor of bone of upper jaw maxillary cancer upper jaw bone cancer maxillary neoplasm MONDO:0005842 An acute or chronic inflammatory process affecting the mucous membrane of the maxillary sinus. maxillary sinusitis MONDO:0005843 A malignant neoplasm involving the mediastinum mediastinal tumor tumour of mediastinum cancer of mediastinum cancer of the mediastinum malignant mediastinal neoplasm malignant mediastinal tumor malignant mediastinum neoplasm malignant neoplasm of mediastinum malignant neoplasm of the mediastinum malignant tumor of mediastinum malignant tumor of the mediastinum mediastinal cancer mediastinum cancer mediastinal cancer MONDO:0005844 An eyelid cyst caused by the blockage of a meibomian gland. chalazion meibomian gland lipogranuloma Meibomian cyst chalazia cyst, Meibomian chalazion MONDO:0005845 Inflammation of the meninges and brain, generally secondary to an infectious cause. Pathogens may be bacterial, viral, fungal, or protozoan. meningoencephalitis MONDO:0005846 A fungal infection caused by Microsporidia. It occurs in immunocompromised patients, causing diarrhea and wasting. Microsporidia caused disease or disorder Microsporidia disease or disorder Microsporidia infection Microsporidia infectious disease infection by Microspora infection by Microsporea infection by Microsporida Microsporidiasis microsporidiosis https://rarediseases.info.nih.gov/diseases/3655/microsporidiosis MONDO:0005847 Atelectasis of the right middle pulmonary lobe, with chronic pneumonitis. (Dorland, 27th ed) middle lobe syndrome MONDO:0005848 I would say the hematogenous widespread dissemination of tuberculosis in the body. The term derives from the chest X-ray image of the tiny (1-5 mm) tuberculosis lesions which are seen through out the lung parenchyma. acute miliary tuberculosis disseminated tuberculosis generalized tuberculosis tuberculosis miliaris disseminata miliary tuberculosis MONDO:0005849 Allergic reaction to milk (usually cow's milk) or milk products. milk hypersensitivity should be differentiated from lactose intolerance, an intolerance to milk as a result of congenital deficiency of lactase. milk allergic reaction milk allergy milk allergic reaction MONDO:0005850 Virus diseases caused by the poxviridae. Paravaccinia milker nodule milkers' node Pseudocowpox milker's nodule MONDO:0005851 An autoimmune process characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia. Fisher syndrome Fisher's syndrome Guillain Barre syndrome, Miller Fisher variant Guillain-Barre syndrome, Miller Fisher variant Miller Fisher variant of Guillain Barre syndrome Miller-Fisher syndrome Miller-Fisher variant of Guillain-Barre syndrome cranial variant of GBS cranial variant of Guillain-Barre syndrome cranial variant of Guillain-Barré syndrome ophthalmoplegia, ataxia and areflexia syndrome syndrome, Fisher syndrome, Miller Fisher syndrome, Miller-Fisher Miller Fisher syndrome MONDO:0005852 Narrowing of the left atrioventricular mitral orifice. mitral stenosis mitral stenoses mitral valve stenoses stenoses, mitral stenoses, mitral valve stenosis, mitral stenosis, mitral valve valve stenoses, mitral valve stenosis, mitral mitral valve stenosis MONDO:0005853 A malignant neoplasm composed of a carcinomatous epithelial component and a sarcomatous mesenchymal component. Representative examples include malignant mixed mesodermal (Mullerian) tumor of the female reproductive system and carcinosarcoma of the salivary gland and the lung. mixed cell type cancer mixed neoplasm mixed tumor malignant mixed cancer malignant mixed neoplasm malignant mixed tumor mixed neoplasm, malignant mixed tumor, malignant mixed tumor, malignant (morphologic abnormality) mixed tumor, malignant, NOS (morphologic abnormality) tumor, mixed, malignant malignant mixed tumors mixed tumors, malignant tumor, malignant mixed tumors, malignant mixed malignant mixed neoplasm MONDO:0005854 Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon ; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immunosuppresivedrugsmay help manage the symptoms. MCTD connective tissue disease overlap syndrome mixed collagen vascular disease sharp syndrome mixed connective tissue disease https://rarediseases.info.nih.gov/diseases/7051/mixed-connective-tissue-disease MONDO:0005855 A common, benign, usually self-limited viral infection of the skin and occasionally the conjunctivae by a poxvirus (molluscum contagiosum virus). (Dorland, 27th ed) molluscum contagiosum MONDO:0005856 Infections with viruses of the order mononegavirales. The concept includes filoviridae infections; paramyxoviridae infections; and rhabdoviridae infections. Mononegavirales caused disease or disorder Mononegavirales disease or disorder Mononegavirales infectious disease MONDO:0005857 Infections with viruses of the genus morbillivirus, family paramyxoviridae. Infections mainly cause acute disease in their hosts, although in some cases infection is persistent and leads to degenerative conditions. Morbillivirus caused disease or disorder Morbillivirus disease or disorder Morbillivirus infectious disease morbillivirus infectious disease MONDO:0005858 An invasive adenocarcinoma characterized by cystic changes and the presence of malignant glandular cells which contain intracytoplasmic mucin. It may arise from the ovary, pancreas, appendix, and lung. Pseudomucinous adenocarcinoma Pseudomucinous cystadenocarcinoma mucinous cystadenocarcinoma mucinous cystadenocarcinoma (morphologic abnormality) mucinous cystadenocarcinoma NOS (morphologic abnormality) mucinous cystadenocarcinoma MONDO:0005859 The most common form of leishmaniasis that is transmitted through the bite of female phlebotomine sand flies or after exposure to leishmania parasites. It is characterized by skin lesions at the site of insect bite which typically develop within weeks or months after exposure. The lesions typically progress from small papules to open sores with raised borders and central ulcers which can be covered with scales or crust. American cutaneous leishmaniasis American mucocutaneous leishmaniasis New World cutaneous leishmaniasis cutaneous leishmaniasis, American mucocutaneous leishmaniasis, (American) mucocutaneous leishmaniasis, American mucocutaneous leishmaniasis MONDO:0005861 A type of drug-resistant tuberculosis that is resistant to both rifampicin and isoniazid, the two most powerful anti-TB drugs. MDR-TB multidrug-resistant TB multidrug-resistant tuberculosis MONDO:0005864 A malignant neoplasm affecting the skeletal or smooth muscles. Malignant neoplasms arising from the skeletal muscles are called rhabdomyosarcomas. Malignant neoplasms arising from the smooth muscles are called leiomyosarcomas. cancer of muscle structure malignant muscle neoplasm malignant muscle structure neoplasm malignant muscle tumor malignant neoplasm of muscle malignant neoplasm of muscle structure malignant neoplasm of the muscle malignant tumor of muscle malignant tumor of the muscle muscle structure cancer myosarcoma muscle cancer MONDO:0005865 An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes. mushroom workers lung bunashimeji worker's lung pholiota worker's lung pleurotus worker's lung shiitaki worker's lung shimeji worker's lung mushroom workers' lung MONDO:0005866 An infection that is caused by Mycobacterium avium. MAC disease Mycobacterium avium Complex Mycobacterium avium complex caused disease or disorder Mycobacterium avium complex disease or disorder Mycobacterium avium complex infectious disease Mycobacterium avium infection infection due to Mycobacterium intracellulare DMAC disseminated infection with mycobacterium avium complex mycobacterium avium complex disease https://rarediseases.info.nih.gov/diseases/9236/disseminated-infection-with-mycobacterium-avium-complex MONDO:0005867 Interstitial pneumonia caused by extensive infection of the lungs (lung) and bronchi, particularly the lower lobes of the lungs, by mycoplasma pneumoniae in humans. In sheep, it is caused by mycoplasma ovipneumoniae. In cattle, it may be caused by mycoplasma dispar. Mycoplasma pneumonia Mycoplasmal pneumonia cold agglutinin positive pneumonia pneumonia due to Eaton's agent pneumonia due to Mycoplasma pneumoniae pneumonia due to Mycoplasma pneumoniae (disorder) Mycoplasma pneumoniae pneumonia MONDO:0005868 A laboratory test result indicating an abnormal amount of circulating nucleated red blood cells and immature red blood cells. anemia LEUKOERYTHROBLASTIC anemia, leukoerythroblastic leukoerythroblastic reaction leukoerythroblastosis myelophthisis myelophthisic anemia MONDO:0005870 A disorder caused by an infection with hookworms of the genus Necator, which settle in the host's small intestine, and cause abdominal pain, diarrhea, weight loss, and anemia. necatoriasis MONDO:0005871 Infections caused by nematode larvae which never develop into the adult stage and migrate through various body tissues. They commonly infect the skin, eyes, and viscera in humans. Ancylostoma brasiliensis causes cutaneous larva migrans. Toxocara causes visceral larva migrans. Nematoda caused disease or disorder Nematoda disease or disorder disease due to nematoda Disease due to Nematoda Infection, Nematode Infections, Nematode Nematode Infection Nematode Infections Nematode infection Nematodiasis nematode infection nematodiasis Nematoda infectious disease MONDO:0005872 A primary or metastatic malignant neoplasm involving the nervous system. nervous system neoplasm neural neoplasm neural tumor tumor of the nervous system cancer of nervous system malignant neoplasm of nervous system malignant neoplasm of the nervous system malignant nervous system neoplasm malignant nervous system tumor malignant tumor of nervous system malignant tumor of the nervous system nervous system cancer nervous system neoplasms, malignant nervous system cancer MONDO:0005873 Infections of the nervous system caused by fungi of the genus aspergillus, most commonly aspergillus fumigatus. Aspergillus infections may occur in immunocompetent hosts, but are more prevalent in individuals with immunologic deficiency syndromes. The organism may spread to the nervous system from focal infections in the lung, mastoid region, sinuses, inner ear, bones, eyes, gastrointestinal tract, and heart. Sinus infections may be locally invasive and enter the intracranial compartment, producing meningitis, fungal; cranial neuropathies; and abscesses in the frontal lobes of the brain. (From Joynt, Clinical Neurology, 1998, Ch 27, pp62-3) neuroaspergillosis MONDO:0005874 Schistosomiasis of the brain, spinal cord, or meninges caused by infections with trematodes of the genus schistosoma (primarily schistosoma japonicum; schistosoma mansoni; and schistosoma haematobium in humans). S. japonicum infections of the nervous system may cause an acute meningoencephalitis or a chronic encephalopathy. S. mansoni and S. haematobium nervous system infections are associated with acute transverse myelitis involving the lower portions of the spinal cord. (From Joynt, Clinical Neurology, 1998, Ch27, pp61-2) neuroschistosomiasis MONDO:0005875 A condition caused by infection by the Newcastle disease virus, which may be characterized by conjunctivitis, respiratory illness, and diarrhea. Newcastle's disease pseudo-fowlpest Newcastle disease MONDO:0005876 Infections with viruses of the order nidovirales. The concept includes arterivirus infections and coronaviridae infections. Nidovirales caused disease or disorder Nidovirales disease or disorder Nidovirales infectious disease MONDO:0005878 Onchocerciasis affecting the eye. eyeball of camera-type eye onchocerciasis onchocerciasis of eyeball of camera-type eye ocular onchocerciasis MONDO:0005879 Ocular toxoplasmosis is an infection in the eye caused by the parasite, Toxoplasm a gondii. Toxoplasmosis is the most common cause of eye inflammation in the world. Toxoplamosis can beacquired or present at birth (congenital), having crossed the placenta from a newly infected mother to her fetus. Most humans acquire toxoplasmosis by eating raw or undercooked meat, vegetables or milk products, or by coming into contact with infected cat litterbox or sandboxes.In humans,the infectionusually causes no symptoms, and resolves without treatment in a few months. In individuals with compromised immune systems, Toxoplasm a gondii can reactivate to cause disease. Reactivation of a congenital infection was traditionally thought to be the most common cause ofocular toxoplasmosis, but an acquired infection is now considered to be more common. A toxoplasmosis infection that affects the eye usually attacks the retina andinitially resolves without symptoms. However,the inactive parasite maylaterreactivate causing eyepain, blurred vision, and possibly permanent damage, including blindness. Although most cases of toxoplasmosis resolve on their own,for some,inflammation can be treated with antibiotics and steroids. ocular toxoplasmosis https://rarediseases.info.nih.gov/diseases/7238/ocular-toxoplasmosis MONDO:0005880 Infection of the intestinal tract with worms of the genus oesophagostomum. This condition occurs mainly in animals other than humans. Oesophagostomum caused disease or disorder Oesophagostomum disease or disorder Oesophagostomum infectious disease infection by Oesophagostomum oesophagostomiasis MONDO:0005881 A lower than normal quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of less than 5 cm or a single maximum vertical pocket (MVP) of less than 2 cm. oligohydramnios (disease) antepartum oligohydramnios delivered oligohydramnios oligohydramnios oligohydramnios (disease) oligohydramnios - delivered Consider obsoleting as represents a finding oligohydramnios MONDO:0005883 Virus infection of the Gasserian ganglion and its nerve branches characterized by pain and vesicular eruptions with much swelling. Ocular involvement is usually heralded by a vesicle on the tip of the nose. This area is innervated by the nasociliary nerve. herpes zoster ophthalmicus HZO Herpes zoster ophthalmicus (HZO) ophthalmic herpes zoster MONDO:0005884 Infection with flukes of the genus Opisthorchis. infection by Opisthorchis infection due to Opisthorchis (felineus)(viverrini) infection due to cat liver fluke opisthorchiasis https://rarediseases.info.nih.gov/diseases/9746/opisthorchiasis MONDO:0005885 Optic neuritis is inflammation of the optic nerve, the nerve that carries the visual signal from the eye to the brain.The conditionmay cause sudden, reduced vision in the affected eye(s). While the cause of optic neuritis is unknown, it has been associated with autoimmune diseases, infections, multiple sclerosis, drug toxicity and deficiency of vitamin B-12. Vision often returns to normal within 2-3 weeks without treatment. In some cases, corticosteroids are given to speed recovery. If known, the underlying cause should be treated. optic neuritis https://rarediseases.info.nih.gov/diseases/7320/optic-neuritis MONDO:0005886 Infection of the mucosal lining of the mouth with the fungus Candida albicans. thrush candidiasis of mouth mouth candidiasis oral moniliasis thrush, oral oral candidiasis MONDO:0005887 Tuberculosis of the mouth, tongue, and salivary glands. oral tuberculosis MONDO:0005888 Disease caused by the Chlamydophila psittaci bacteria, usually transmitted from birds to humans. psittacosis ornithosis MONDO:0005890 A disorder that is characterized by bone cysts and fractures, resulting from hyperparathyroidism. Von Recklinghausen disease of Bone Von Recklinghausen's bone disease Von Recklinghausen's disease of Bone hyperparathyroid bone disease osteitis fibrosa cystica osteitis fibrosa cystica generalisata osteitis fibrosa MONDO:0005891 A disease of herbivorous mammals, particularly cattle and sheep, caused by stomach worms of the genus ostertagia. ostertagiasis MONDO:0005892 Otitis media associated with accumulation of fluid in the middle ear. OME secretory otitis Media serous otitis Media otitis media with effusion MONDO:0005893 An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. The mitotic count is more than 20 per 10 HPF. According to the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm, it is classified either as small or large cell neuroendocrine carcinoma. Pancreatic Neuroendocrine cancer carcinoma of endocrine pancreas carcinoma, islet cell, malignant endocrine pancreas carcinoma high grade pancreatic neuroendocrine carcinoma high-grade pancreatic neuroendocrine carcinoma islet cell cancer islet cell carcinoma islet cell carcinoma (morphologic abnormality) malignant islet cell tumor malignant neoplasm of islets of Langerhans malignant pancreatic endocrine tumor pancreatic NEC pancreatic NEC G3 pancreatic endocrine cancer pancreatic endocrine carcinoma pancreatic neuroendocrine carcinoma poorly differentiated pancreatic endocrine carcinoma poorly-differentiated NEN of pancreas poorly-differentiated neuroendocrine neoplasm of pancreas poorly-differentiated pancreatic NEN poorly-differentiated pancreatic neuroendocrine neoplasm neuroendocrine carcinoma of pancreas pancreatic endocrine carcinoma MONDO:0005894 A systemic fungal infection caused by Paracoccidioides brasiliensis that is most often seen in immunocompromised patients. It affects the mucous membranes, lymph nodes, lungs and bones. mucocutaneous-lymphangitic paracoccidioidomycosis paracoccidioidal mycosis Lutz-Splendore-Almeida disease PCM Paracoccidioidal granuloma South American blastomycosis lobo disease paracoccidioidomycosis https://rarediseases.info.nih.gov/diseases/7323/paracoccidioidomycosis MONDO:0005895 A parasitic infection caused by trematodes of the Paragonimus genus. Humans are infected from ingestion of raw or undercooked food. It results in chronic lung infection and eosinophilia. Paragonimus westermani caused disease or disorder Paragonimus westermani disease or disorder Paragonimus westermani infectious disease infection by Paragonimus lung fluke disease lung fluke infection pulmonary paragonimiasis Paragonimus westermani infection paragonimiasis https://rarediseases.info.nih.gov/diseases/9815/paragonimiasis MONDO:0005896 Infections with viruses of the family paramyxoviridae. This includes morbillivirus infections; respirovirus infections; pneumovirus infections; henipavirus infections; avulavirus infections; and rubulavirus infections. Paramyxoviridae caused disease or disorder Paramyxoviridae disease or disorder Paramyxoviridae infectious disease MONDO:0005898 An acute or chronic infection of the soft tissues around the nail. Symptoms include pain, tenderness, erythema, and swelling around the nail. Acute infection results from minor trauma to the fingertip and Staphylococcus aureus is usually the causative agent. Chronic infection is usually caused by Candida albicans. paronychia (disease) fungal nail infection infected nailfold onychia and paronychia of finger onychia and paronychia of toe paronychia paronychia (disease) paronychia inflammation paronychia MONDO:0005899 A disease involving the parotid gland. disease of parotid gland disease or disorder of parotid gland disorder of parotid gland parotid gland disease parotid gland disease or disorder parotid disorder MONDO:0005900 Inflammation of the parotid glands. inflammation of parotid gland parotid gland inflammation parotitis MONDO:0005901 Infections with bacteria of the genus pasteurella. Pasteurella caused disease or disorder Pasteurella disease or disorder Pasteurella infection Pasteurella infectious disease pasteurellosis MONDO:0005902 Allergic reaction to peanuts that is triggered by the immune system. allergy to peanuts nut allergic reaction of pigmented ciliary epithelial cell peanut allergic reaction pigmented ciliary epithelial cell nut allergic reaction peanut allergy peanut allergic reaction MONDO:0005903 Inflammation of the sac surrounding the heart (pericardium) due to mycobacterium tuberculosis infection. Pericarditis can lead to swelling (pericardial effusion), compression of the heart (cardiac tamponade), and preventing normal beating of the heart. tuberculous pericarditis pericardial tuberculosis MONDO:0005904 An inflammatory process affecting the pericardium. pericarditis (disease) inflammation of pericardium pericarditis pericarditis (disease) pericardium inflammation pericarditis MONDO:0005905 Excessive periodic leg movements during sleep that cause micro-arousals and interfere with the maintenance of sleep. This condition induces a state of relative sleep deprivation which manifests as excessive daytime hypersomnolence. The movements are characterized by repetitive contractions of the tibialis anterior muscle, extension of the toe, and intermittent flexion of the hip, knee and ankle. (Adams et al., Principles of Neurology, 6th ed, p387) nocturnal myoclonus periodic limb movement disorder MONDO:0005906 An abscess that develops in the space surrounding one or both palatine tonsils. quinsy peritonsillar abscess MONDO:0005907 Unexplained symptoms reported by veterans of the Persian Gulf War with Iraq in 1991. The symptoms reported include fatigue, skin rash, muscle and joint pain, headaches, loss of memory, shortness of breath, gastrointestinal and respiratory symptoms, and extreme sensitivity to commonly occurring chemicals. (Nature 1994 May 5;369(6475):8) Gulf war syndrome persian gulf syndrome MONDO:0005909 Infections with viruses of the genus pestivirus, family flaviviridae. Pestivirus caused disease or disorder Pestivirus disease or disorder Pestivirus infectious disease Pestivirus infection infection, Pestivirus infections, Pestivirus pestivirus infectious disease MONDO:0005910 Disorders in which phagocytic cells cannot kill ingested bacteria; characterized by frequent recurring infection with formulation of granulomas. phagocytic dysfunction phagocyte bactericidal dysfunction MONDO:0005911 A condition characterized by fever, conjunctivitis, and pharyngitis resulting from infection by adenovirus. Adenoviral pharyngoconjunctivitis pharyngo-conjunctival fever pharyngoconjunctival fever pharyngoconjunctival fever MONDO:0005912 The misuse of phencyclidine with associated psychological symptoms and impairment in social or occupational functioning. PCP abuse phencyclidine abuse phencyclidine abuse MONDO:0005913 Influenza-like febrile viral disease caused by several members of the bunyaviridae family and transmitted mostly by the bloodsucking sandfly Phlebotomus papatasii. Sandfly fever Sandfly-borne Bunyavirus fever Sandfly-borne arboviral fever Sandfly-borne phleboviral disease pappataci fever phlebotomus fever MONDO:0005914 Virus diseases caused by the picornaviridae. Picornaviridae infection infections, Picornaviridae Picornaviridae infectious disease MONDO:0005915 A yeast infection usually manifested as a superficial skin infection. It may also present as a systemic infection in patients who are receiving total parenteral nutrition. Malassezia furfur infection infection by Pityrosporum furfur infections, Malassezia furfur tinea flava tinea versicolor pityriasis versicolor MONDO:0005916 The clinical condition in which any part of the placenta invades and is inseparable from the uterine wall. (reVITALize) Increta, placenta Percreta, placenta accreta, placenta placenta Increta placenta Percreta placenta accreta MONDO:0005917 A disease involving the placenta. disease of placenta disease or disorder of placenta disorder of placenta placenta disease placenta disease or disorder placenta diseases placenta disorder placenta disorders placental disorder disease, placenta disease, placental diseases, placenta diseases, placental disorder, placenta disorders, placenta placental disease placental diseases placenta disorder MONDO:0005918 Abnormal placentation in which the placenta implants in the lower segment of the uterus (the zone of dilation) and may cover part or all of the opening of the cervix. It is often associated with serious antepartum bleeding and premature labor. placenta praevia placenta previa placenta praevia MONDO:0005919 Failure of the placenta to deliver an adequate supply of nutrients and oxygen to the fetus. uteroplacental vascular insufficiency insufficiency, placental placental insufficiency MONDO:0005920 Malaria resulting from infection by Plasmodium falciparum. Plasmodium falciparum malaria, unspecified falciparum malaria falciparum malaria [malignant tertian] malaria fever, subtertian malignant tertian fever malignant tertian fever (finding) Plasmodium falciparum malaria MONDO:0005921 Malaria resulting from infection by Plasmodium vivax. malaria by Plasmodium vivax vivax malaria Plasmodium vivax malaria MONDO:0005922 Inflammation of the pleura secondary to an infection with Mycobacterium tuberculosis. pearly disease pleura tuberculosis tuberculosis of pleura tuberculous pleurisy tuberculous pleurisy in primary progressive tuberculosis tuberculous pleuritis pleural tuberculosis MONDO:0005923 Infections with species in the genus pneumocystis, a fungus causing interstitial plasma cell pneumonia (pneumonia, pneumocystis) and other infections in humans and other mammals. Immunocompromised patients, especially those with aids, are particularly susceptible to these infections. Extrapulmonary sites are rare but seen occasionally. Pneumocystis infection infections, Pneumocystis Pneumocystis infectious disease MONDO:0005925 Bovine respiratory disease found in animals that have been shipped or exposed to cattle recently transported. The major agent responsible for the disease is mannheimia haemolytica and less commonly, pasteurella multocida or haemophilus somnus. All three agents are normal inhabitants of the bovine nasal pharyngeal mucosa but not the lung. They are considered opportunistic pathogens following stress, physiological and/or a viral infection. The resulting bacterial fibrinous bronchopneumonia is often fatal. pneumonic pasteurellosis MONDO:0005927 Infections with polyomavirus, which are often cultured from the urine of kidney transplant patients. Excretion of bk virus is associated with ureteral strictures and cystitis, and that of jc virus with progressive multifocal leukoencephalopathy (leukoencephalopathy, progressive multifocal). polyomavirus infectious disease MONDO:0005928 A condition characterized by a chronically swollen limb, often a leg with stasis dermatitis and ulcerations. This syndrome can appear soon after phlebitis or years later. Postphlebitic syndrome is the result of damaged or incompetent venous valves in the limbs. Distended, tortuous varicose veins are usually present. Leg pain may occur after long period of standing. postphlebetic syndrome with inflammation postphlebetic syndrome with ulcer postphlebetic syndrome with ulcer and inflammation postphlebitic syndrome venous stress disorder post-thrombotic syndrome MONDO:0005929 A type of clinical depression that occurs after childbirth. depressive episode with postpartum onset major depressive episode with peripartum onset maternity blues postnatal depression postpartum depression depression, post-Natal depression, post-partum depression, postnatal post Natal depression post partum depression post-Natal depression post-partum depression postpartum depression MONDO:0005932 A highly contagious herpesvirus infection affecting the central nervous system of swine, cattle, dogs, cats, rats, and other animals. pseudorabies MONDO:0005933 A malignant neoplasm of the lung composed of tubular structures and immature mesenchymal elements, which may differentiate towards skeletal and smooth muscle, cartilage or a combination of muscle and cartilage. This is a nodular tumor found in the periphery of the lung. It can occur at any age. The prognosis is related to the stage of the disease at the time of resection. Pulmonary blastoma is divided into two subtypes: epithelial predominant and biphasic. Pneumoblastoma blastoma of lung blastoma of the lung lung blastoma pulmonary blastoma pulmonary blastoma MONDO:0005936 Infections with nontuberculous mycobacteria (atypical mycobacteria): M. kansasii, M. marinum, M. scrofulaceum, M. flavescens, M. gordonae, M. obuense, M. gilvum, M. duvali, M. szulgai, M. intracellulare (see mycobacterium avium complex;), M. xenopi (littorale), M. ulcerans, M. buruli, M. terrae, M. fortuitum (minetti, giae), M. chelonae. recurrent pneumonia (disease) recurrent pneumonia recurrent pneumonia (disease) recurrent pneumonia MONDO:0005937 A disorder characterized by episodes of vigorous and often violent motor activity during rem sleep (sleep, rem). The affected individual may inflict self injury or harm others, and is difficult to awaken from this condition. Episodes are usually followed by a vivid recollection of a dream that is consistent with the aggressive behavior. This condition primarily affects adult males. (From Adams et al., Principles of Neurology, 6th ed, p393) rapid eye movement sleep behavior disorder REM sleep behavior disorder MONDO:0005938 Infection of the kidney due to mycobacteria. kidney tuberculosis tuberculosis of kidney renal tuberculosis MONDO:0005939 Infections produced by reoviruses, general or unspecified. Reoviridae infection Reovirus infection Reovirus infections infection, Reoviridae infection, Reovirus infections, Reoviridae infections, Reovirus Reoviridae infectious disease MONDO:0005940 Infections with viruses of the genus respirovirus, family paramyxoviridae. Host cell infection occurs by adsorption, via hemagglutinin, to the cell surface. infections, Respirovirus respirovirus infectious disease MONDO:0005941 A primary or metastatic malignant neoplasm involving the retroperitoneum. The vast majority of cases are carcinomas, lymphomas, or sarcomas. neoplasm of retroperitoneum neoplasm of the retroperitoneum retroperitoneal neoplasm tumor of retroperitoneum cancer of retroperitoneal space malignant neoplasm of retroperitoneal space malignant neoplasm of retroperitoneum and peritoneum malignant retroperitoneal neoplasm malignant retroperitoneal space neoplasm malignant tumor of peritoneum and retroperitoneum retroperitoneal space cancer malignant neoplasm of retroperitoneum malignant retroperitoneal cancer retroperitoneal cancer MONDO:0005942 An acute and potentially fatal metabolic disorder characterized by cerebral edema, fatty liver and hypoglycemia. It occurs primarily in children and has been associated with the use of aspirin for the treatment of viral infections. However, it can also occur in the absence of aspirin use. https://github.com/monarch-initiative/mondo/issues/3608 Reye's syndrome Reye syndrome MONDO:0005943 Infections with nematodes of the order rhabditida. Rhabditida infection Rhabditida infections infection, Rhabditida infections, Rhabditida Rhabditida infectious disease MONDO:0005944 Virus diseases caused by rhabdoviridae. Important infections include rabies; ephemeral fever; and vesicular stomatitis. Rhabdoviridae infection infection, Rhabdoviridae infections, Rhabdoviridae Rhabdoviridae infectious disease MONDO:0005945 A granulomatous disease caused by klebsiella rhinoscleromatis infection. Despite its name, this disease is not limited to the nose and nasopharynx but may affect any part of the respiratory tract, sometimes with extension to the lip and the skin. rhinoscleroma MONDO:0005946 Chronic, localized granulomatous infection of mucocutaneous tissues, especially the nose, and characterized by hyperplasia and the development of polyps. It is found in humans and other animals and is caused by the mesomycetozoean organism rhinosporidium seeberi. Rhinosporidium seeberi caused disease or disorder Rhinosporidium seeberi disease or disorder Rhinosporidium seeberi infectious disease infection by Rhinosporidium seeberi Rhinosporidioses rhinosporidiosis MONDO:0005947 Pneumonia caused by infection with bacteria of the family rickettsiaceae. Rickettsiaceae caused pneumonia Rickettsiaceae pneumonia rickettsial pneumonia MONDO:0005949 Infection with roseolovirus, the most common in humans being exanthema subitum, a benign disease of infants and young children. Roseolovirus caused disease or disorder Roseolovirus disease or disorder Roseolovirus infectious disease roseolovirus infectious disease MONDO:0005950 Poisoning caused by ingestion of food harboring species of salmonella. Conditions of raising, shipping, slaughtering, and marketing of domestic animals contribute to the spread of this bacterium in the food supply. Salmonella caused gastroenteritis Salmonella gastroenteritis MONDO:0005952 A streptococcal infection, mainly occurring among children, that is characterized by a red skin rash, sore throat, and fever. scarlatina scarlet fever MONDO:0005953 An infiltrating adenocarcinoma characterized by the presence of desmoplastic stromal reaction. FIBROADENOCARCINOMA, malignant adenocarcinoma with productive fibrosis fibrocarcinoma scirrhous adenocarcinoma scirrhous adenocarcinoma (morphologic abnormality) scirrhous carcinoma scirrhous adenocarcinoma MONDO:0005954 Infection with larvae of the blow fly Cochliomyia hominivorax (Callitroga americanum), a common cause of disease in livestock in the southern and southwestern U.S.A. Cochliomyia hominivorax caused disease or disorder Cochliomyia hominivorax disease or disorder Cochliomyia hominivorax infectious disease infection, screw worm infections, screw worm screw worm infections screw worm infectious disease MONDO:0005956 A plague in which the bacteria have entered the bloodstream. septicemic plague MONDO:0005957 Infection with nematodes of the genus Setaria. This condition is usually seen in cattle and equines and is of little pathogenic significance, although migration of the worm to the eye may lead to blindness. Setaria <nematode> caused disease or disorder Setaria <nematode> disease or disorder Setaria <nematode> infectious disease infectious disease by Setaria setariasis MONDO:0005959 A group of symptoms that are two- to three-fold more common in those who work in large, energy-efficient buildings, associated with an increased frequency of headaches, lethargy, and dry skin. Clinical manifestations include hypersensitivity pneumonitis (alveolitis, extrinsic allergic); allergic rhinitis (rhinitis, allergic, perennial); asthma; infections, skin eruptions, and mucous membrane irritation syndromes. Current usage tends to be less restrictive with regard to the type of building and delineation of complaints. (From Segen, Dictionary of Modern Medicine, 1992) sick building syndrome MONDO:0005960 Silicosis is a respiratory disease caused by breathing in (inhaling) silica dust. There are three types of silicosis: Simple chronic silicosis, the most common type of silicosis, results from long-term exposure (usually more than 20years) to low amounts of silica dust. Simple chronic silicosismay causepeople to have difficulty breathing. Accelerated silicosis occurs after 5 to 15 yearsof exposure of higher levels of silica.Swelling of the lungsand other symptoms occur faster in this type of silicosis than in the simple chronic form. Acute silicosis results from short-term exposure (weeks or months) of large amounts of silica.The lungs become very inflamed and can fill with fluid, causing severe shortness of breath and low blood oxygen levels. A cough, weight loss, and fatigue may also be present. Acute silicosis progresses rapidly and can be fatal within months. People who work in jobs where they are exposed to silica dust (mining, quarrying, construction, sand blasting, stone cutting) are at risk of developing this condition. pneumoconiosis due to silica pneumoconiosis due to silicates silica pneumoconiosis silicosis silicotic fibrosis of lung silicotuberculosis accelerated silicosis acute silicosis chronic silicosis experimental silicosis nodular silicosis pneumoconiosis caused by silica silicatosis silicosis https://rarediseases.info.nih.gov/diseases/7647/silicosis MONDO:0005961 An acute or chronic inflammatory process affecting the mucous membranes of any sinus cavity. sinusitis MONDO:0005962 Tuberculosis of the bones or joints. osteoarticular tuberculosis skeletal tuberculosis MONDO:0005963 A condition resulting from infection with the second stage larvae of the parasite Spirometra. Spirometra caused disease or disorder Spirometra disease or disorder Spirometra infectious disease infection by sparganum sparganosis [larval diphyllobothriasis] sparganosis MONDO:0005964 An acute or chronic inflammatory process affecting the mucous membrane of the sphenoid sinus. sinusitis of sphenoid bone sphenoid bone sinusitis sphenoidal sinusitis sphenoid sinusitis MONDO:0005965 Narrowing of the spinal canal. cervical spinal stenosis lumbar spinal stenosis spinal stenosis of lumbar region spinal stenosis MONDO:0005966 A malignant neoplasm involving the spleen spleen neoplasm splenic neoplasm cancer of spleen cancer of the spleen malignant neoplasm of spleen malignant neoplasm of the spleen malignant spleen neoplasm malignant splenic neoplasm malignant splenic tumor malignant tumor of spleen malignant tumor of the spleen malignant tumour of spleen spleen cancer splenic cancer spleen cancer MONDO:0005967 Infection of the spleen with species of mycobacterium. splenic tuberculosis MONDO:0005968 The commonest and least serious of the deep mycoses, characterized by nodular lesions of the cutaneous and subcutaneous tissues. It is caused by inhalation of contaminated dust or by infection of a wound. rose gardener's disease sporotrichosis https://rarediseases.info.nih.gov/diseases/7692/sporotrichosis MONDO:0005969 A viral encephalitis caused by the St. Louis encephalitis virus (encephalitis virus, st. louis), a flavivirus. It is transmitted to humans and other vertebrates primarily by mosquitoes of the genus culex. The primary animal vectors are wild birds and the disorder is endemic to the midwestern and southeastern United States. Infections may be limited to an influenza-like illness or present as an aseptic meningitis or encephalitis. Clinical manifestations of the encephalitic presentation may include seizures, lethargy, myoclonus, focal neurologic signs, coma, and death. (From Adams et al., Principles of Neurology, 6th ed, p750) Neuroinvasive St. Louis encephalitis virus infection Saint Louis encephalitis St. Louis encephalitis virus caused infectious encephalitis St. Louis encephalitis virus infectious encephalitis st. Louis encephalitis MONDO:0005970 Pneumonia caused by infections with bacteria of the genus staphylococcus, usually with staphylococcus aureus. Staphylococcus caused pneumonia Staphylococcus pneumonia staphylococcal pneumonia MONDO:0005971 Food poisoning that is caused by Staphylococcal infection. staphylococcal food poisoning staphylococcal toxaemia due to food staphyloenterotoxicosis staphyloenterotoxemia MONDO:0005972 A febrile disease caused by streptococcus pneumoniae. Streptococcus pneumoniae caused pneumonia Streptococcus pneumoniae pneumonia pneumococcal pneumonia pneumonia due to streptococcus streptococcal pneumonia Streptococcus pneumonia pneumonia caused by streptococcus streptococcal pneumonia MONDO:0005973 Infections with nematodes of the order strongylida. Strongylida infectious disease MONDO:0005974 An infection that is caused by nematodes of the genus Strongyloides, most commonly Strongyloides stercoralis, which is a soil-transmitted helminth, and which is characterized by a variety of gastrointestinal, dermatologic, and, occasionally, pulmonary manifestations. The worm's autoinfective life cycle can lead to hyper-infection and life-threatening dissemination in immunocompromised hosts decades after initial infection. Anguilluliasis Anguillulosis disseminated strongyloidiasis infection by Strongyloides strongyloidiasis MONDO:0005975 Inflammation of the middle ear with purulent discharge. otitis media with effusion - purulent purulent otitis media suppurative otitis media MONDO:0005976 A contagious bacterial infection caused by the spirochete Treponema pallidum. It is a sexually transmitted disorder, although it can also be transmitted from the mother to the fetus in utero. Typically, it is initially manifested with a single sore which heals without treatment. If the infection is left untreated, the initial stage is followed by skin rash and mucous membrane lesions. A late stage follows, which is characterized by damage of the internal organs, including the nervous system. Treponema pallidum caused disease or disorder Treponema pallidum disease or disorder Treponema pallidum infectious disease syphilitic chancre syphilis MONDO:0005977 A form of neurosyphilis characterized by slowly progressive degeneration of the spinal cord. Signs and symptoms include pain, ataxia, loss of coordination, personality changes, blindness, urinary incontinence, dementia, and degeneration of the joints. posterior spinal sclerosis tabes dorsalis - neurosyphilis syphilitic myelopathy tabes dorsalis MONDO:0005978 Infection of cattle, sheep, or goats with protozoa of the genus theileria. This infection results in an acute or chronic febrile condition. infection by Theileria theileriosis theileriasis MONDO:0005979 A syndrome resulting from the compression of the blood vessels or nerves in the space between the clavicle and first rib (thoracic outlet). It is caused by car accident injuries or repetitive job or sport-related injuries. Signs and symptoms include pain in the shoulders and neck, numbness in the fingers, and weakening grip. TOS TOS - thoracic outlet syndrome thoracic outlet compression syndrome thoracic outlet syndrome MONDO:0005980 Infestations with soft-bodied (Argasidae) or hard-bodied (Ixodidae) ticks. Ixodoidea caused disease or disorder Ixodoidea disease or disorder Ixodoidea infectious disease tick infestation MONDO:0005981 Paralysis caused by a neurotropic toxin secreted by the salivary glands of ticks. tick paralysis https://rarediseases.info.nih.gov/diseases/7771/tick-paralysis MONDO:0005982 A skin infection caused by a fungus. Tinea Tinea caused disease or disorder Tinea disease or disorder Tinea infection Tinea infectious disease ringworm Editor note: consider obsoleting as this is a loose grouping tinea infection MONDO:0005983 A severe, chronic fungal skin infection, usually of the scalp, characterized by the development of thick, yellow cup-shaped crusts and scarring over hair follicles. favus tinea favosa MONDO:0005984 Dermatological pruritic lesion in the feet, caused by Trichophyton rubrum, T. mentagrophytes, or Epidermophyton floccosum. athlete's foot dermatophytosis of foot dermatophytosis of pes pes dermatophytosis ringworm of foot tinea pedis MONDO:0005985 Virus diseases caused by the togaviridae. Togaviridae caused disease or disorder Togaviridae disease or disorder Togaviridae infectious disease MONDO:0005986 Infections with viruses of the genus torovirus, family coronaviridae. Torovirus caused disease or disorder Torovirus disease or disorder Torovirus infectious disease torovirus infectious disease MONDO:0005987 Infections with nematodes of the genus toxascaris. Toxascaris caused disease or disorder Toxascaris disease or disorder Toxascaris infectious disease toxascariasis MONDO:0005988 A parasitic infection caused by worms found in domestic animals. In humans nematode larvae enter the portal system from the small intestine and disseminate in visceral organs causing inflammatory reactions. Signs and symptoms include eosinophilia, hepatomegaly, splenomegaly, and lung infections. Toxocara caused disease or disorder Toxocara disease or disorder Toxocara infection Toxocara infectious disease infection by Toxascaris visceral larva migrans toxocariasis MONDO:0005989 A parasitic disease contracted by the ingestion or fetal transmission of toxoplasma gondii. Toxoplasma gondii caused disease or disorder Toxoplasma gondii disease or disorder Toxoplasma gondii infectious disease disseminated toxoplasmosis toxoplasmosis MONDO:0005990 A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions. acute tracheitis chronic tracheitis inflammation of tracheal mucosa tracheal Inflammation tracheal mucosa inflammation tracheitis MONDO:0005991 An intermittent fever characterized by intervals of chills, fever, and splenomegaly each of which may last as long as 40 hours. It is caused by bartonella quintana and transmitted by the human louse. Bartonella quintana caused disease or disorder Bartonella quintana disease or disorder Bartonella quintana infectious disease His-Werner disease Wolhynian fever bartonellosis due to Bartonella quintana infection quintan fever shin bone fever tibialgic fever trench fever fever, trench fevers, trench trench fevers trench fever MONDO:0005993 A sexually transmitted parasitic infection caused by Trichomonas vaginalis. Symptoms include vaginal discharge, vaginal odor, vaginal itching, and discomfort during intercourse. Trichomonas vaginalis caused disease of genitourinary system Trichomonas vaginalis disease of genitourinary system Trichomonas vaginitis urogenital Trichomonas urogenital infection by Trichomonas vaginalis Trichomonas vaginalis trichomoniasis urogenital infection caused by Trichomonas vaginalis urogenital trichomoniasis Trichomonas vaginitis urogenital infection MONDO:0005994 Infection by roundworms of the superfamily trichostrongyloidea, including the genera trichostrongylus; ostertagia; Cooperia, haemonchus; Nematodirus, Hyostrongylus, and dictyocaulus. Trichostrongyloidea caused disease or disorder Trichostrongyloidea disease or disorder Trichostrongyloidea infectious disease trichostrongyloidiasis MONDO:0005995 Infestation with nematode worms of the genus trichostrongylus. Humans become infected by swallowing larvae, usually with contaminated food or drink, although the larvae may penetrate human skin. Trichostrongyliasis Trichostrongylus caused disease or disorder Trichostrongylus disease or disorder Trichostrongylus infectious disease infection by Trichostrongylus infection by Trichostrongylus species trichostrongylosis MONDO:0005996 An infection that is caused by the nematode Trichuris trichiura, a soil-transmitted helminth, which is transmitted via food and/or water contaminated with the eggs of the worm. Symptoms are usually mild and include abdominal pain, diarrhea, fatigue, and possibly anemia secondary to blood loss in diarrhea. Trichuris trichiura caused disease or disorder Trichuris trichiura disease or disorder Trichuris trichiura infection Trichuris trichiura infectious disease infection by Trichuris trichura trichuriasis infection whipworm disease trichocephaliasis whipworm infection trichuriasis https://rarediseases.info.nih.gov/diseases/10720/trichuriasis MONDO:0005997 Narrowing or stricture of the tricuspid orifice of the heart. tricuspid stenosis tricuspid valve stenosis MONDO:0005998 Infestation with mites of the genus Trombiculidae, whose larvae carry the rickettsial agent of scrub typhus. Trombiculidae caused disease or disorder Trombiculidae disease or disorder Trombiculidae infectious disease trombiculiasis MONDO:0005999 An empyema resulting from infection by Mycobacterium tuberculosis. tuberculous empyema (& pleural) tuberculous empyema MONDO:0006000 A form of peritonitis seen in patients with tuberculosis, characterized by lesion either as a miliary form or as a pelvic mass on the peritoneal surfaces. Most patients have ascites, abdominal swelling, abdominal pain, and other systemic symptoms such as fever; weight loss; and anemia. Mycobacterium tuberculosis caused peritonitis Mycobacterium tuberculosis peritonitis tuberculous peritonitis MONDO:0006001 A bladder infection that occurs as a manifetation of a systemic infection with one or more species of the parasitic worms of the Schistosoma type; this can progress to bladder cancer in time. Schistosoma haematobium Schistosoma haematobium (& vesical schistosomiasis) Schistosoma hematobium infection Schistosoma hematobium infectious disease bladder schistosomiasis cystitis with bilharziasis schistosomiasis due to Schistosoma haematobium schistosomiasis of bladder urinary bladder schistosomiasis urinary schistosomiasis vesical schistosomiasis Schistosoma haematobium infection urinary schistosomiasis MONDO:0006002 A general term for mycobacterium infections of any part of the urogenital system in either the male or the female. genitourinary system tuberculosis genitourinary tuberculosis Editor note: in ORDO this is classified 'rare disorder with obstructive azoospermia' but this is male specific, so we move to the male-specific subclass urogenital tuberculosis MONDO:0006003 A malignant neoplasm involving the body of uterus. body of uterus cancer cancer of body of uterus cancer of the corpus uteri corpus uteri cancer malignant body of uterus neoplasm malignant neoplasm of body of uterus uterine (including endometrial) cancer uterine corpus cancer endometrial cancer Editor note: NCIT has terms for both UC malignant neoplasm (NCIT:C3556) and cancer. uterine corpus cancer MONDO:0006004 Inflammation in the nasal cavity mucosa that results from the abnormal regulation of the blood flow in the nose. It may be caused by temperature fluctuations, air pollution, strong odors, and tobacco smoke. It results in chronic nasal congestion, sneezing, and running nose. vasomotor rhinitis MONDO:0006005 A condition caused by infection by the Venezuelan equine encephalitis virus, which is characterized by headache, fever, myalgia, nausea, and vomiting. Venezuelan equine encephalitis virus caused disease or disorder Venezuelan equine encephalitis virus disease or disorder Venezuelan equine encephalitis virus infectious disease Venezuelan equine fever Venezuelan equine encephalitis https://rarediseases.info.nih.gov/diseases/6355/venezuelan-equine-encephalitis MONDO:0006006 A well differentiated squamous cell carcinoma characterized by a papillary growth pattern, acanthosis, mild cytologic atypia, and pushing tumor margins. The most commonly affected anatomic sites are the oral cavity, nasal cavity, larynx, esophagus, anus, vagina, vulva, and the plantar region of the foot. verrucous carcinoma verrucous carcinoma NOS (morphologic abnormality) verrucous epidermoid carcinoma verrucous epidermoid cell carcinoma verrucous squamous carcinoma verrucous squamous cell carcinoma warty carcinoma verrucous carcinoma MONDO:0006007 Abnormal flow of urine from the urinary bladder back into the ureters. vesicoureteral reflux (disease) vesico-ureteral reflux vesicoureteral reflux vesicoureteral reflux (disease) vesicoureteral reflux MONDO:0006008 Idiopathic inflammation of the vestibular nerve, characterized clinically by the acute or subacute onset of vertigo; nausea; and imbalance. The cochlear nerve is typically spared and hearing loss and tinnitus do not usually occur. Symptoms usually resolve over a period of days to weeks. (Adams et al., Principles of Neurology, 6th ed, p304) epidemic neurolabyrinthitis vestibular neuritis vestibular neuronitis MONDO:0006009 Encephalitis resulting from viral infection. Viruses caused encephalitis Viruses encephalitis viral encephalitis Editor note: we place the Orphanet class here as it is implicitly viral viral encephalitis MONDO:0006011 An acute or chronic inflammation of the liver parenchyma caused by viruses. Representative examples include hepatitis A, B, and C, cytomegalovirus hepatitis, and herpes simplex hepatitis. animal viral hepatitis Hepatitis viral Viruses caused hepatitis Viruses hepatitis human viral hepatitis viral Hepatitis viral human hepatitis unspecified viral hepatitis with hepatic coma viral hepatitis with hepatic coma Editor note: consider adding term for viral viral hepatitis MONDO:0006012 Inflammation of the lung parenchyma that is caused by a viral infection. Viruses caused pneumonia Viruses pneumonia viral pneumonia MONDO:0006014 Infection of the vulva and vagina with a fungus of the genus CANDIDA. It is a disease associated with HIV infection. candidal vulvovaginitis candidal: [vulvovaginitis NOS] or [cervix] candidal: cervix candidiasis of vulva and vagina monilial vulvovaginitis vaginal candidiasis vulvovaginal candidiasis vulvovaginal candidiasis MONDO:0006015 A serious disorder characterized by massive adrenal gland hemorrhage secondary to a bacterial infection, most often Neisseria meningitidis infection. It is manifested with decreased blood pressure, shock, disseminated intravascular coagulation, and adrenocortical insufficiency. WFS meningococcal hemorrhagic adrenalitis Waterhouse–Friderichsen syndrome fatal pneumococcal Waterhouse-Friderichsen syndrome Waterhouse-Friderichsen syndrome MONDO:0006018 A rheumatic syndrome of possibly allergic origin, usually affecting children and adolescents, and characterized by high fever, exanthema, arthralgia, leukocytosis, and increased sedimentation rate. Wissler syndrome Wissler's subsepsis allergica Wissler's syndrome Wissler-Fanconi syndrome (finding) Wissler syndrome MONDO:0006019 An endemic, infectious, nonvenereal disease in humans that presents mainly in children younger than 15 years. The disease occurs primarily in warm, humid, tropical areas of Africa, Asia, South America, and Oceania, among poor rural populations where conditions of overcrowding and poor sanitation prevail. Infection with Treponema pertenue, a subspecies of Treponema pallidum, causes the disease. Bouba Treponema pallidum subsp. pertenue caused disease or disorder Treponema pallidum subsp. pertenue disease or disorder Treponema pallidum subsp. pertenue infectious disease frambesia frambesia tropica frambosie polypapilloma tropicum thymosis Treponema pertenue infection endemic treponematoses yaws https://rarediseases.info.nih.gov/diseases/7913/yaws MONDO:0006021 A syndrome typically consisting of angina (cardiac chest pain) at rest that occurs in cycles. It is caused by vasospasm, a narrowing of the coronary arteries caused by contraction of the smooth muscle tissue in the vessel walls rather than directly by atherosclerosis (buildup of fatty plaque and hardening of the arteries). For a portion of patients Prinzmetal's angina may be a manifestation of vasospastic disorder and is associated with migraine, Raynaud's phenomenon or aspirin-induced asthma. Prinzmetal's angina Prinzmetal's variant angina angina inversa variant angina variant angina pectoris Potentially caused by mutations in smooth muscle K+ channel.nA syndrome typically consisting of angina (cardiac chest pain) at rest that occurs in cycles. It is caused by vasospasm, a narrowing of the coronary arteries caused by contraction of the smooth muscle tissue in the vessel walls rather than directly by atherosclerosis (buildup of fatty plaque and hardening of the arteries). Prinzmetal angina MONDO:0006022 An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic. acidosis acidosis disorder MONDO:0006025 Autosomal recessive form of disease. autosomal recessive disease or disorder autosomal recessive hereditary disease autosomal recessive hereditary disorder autosomal recessive inherited disease autosomal recessive inherited disorder disease or disorder, autosomal recessive disease, autosomal recessive recessive hereditary disorder (autosomal) autosomal recessive disease MONDO:0006026 A disease involving the urinary bladder. bladder disease bladder disorder disease of urinary bladder disease or disorder of urinary bladder disorder of urinary bladder urinary bladder disease urinary bladder disease or disorder urinary bladder disorder urinary bladder disorder MONDO:0006027 A synovial sarcoma (disease) that involves the breast. breast synovial sarcoma (disease) breast synovial sarcoma MONDO:0006028 A carcinoma that arises from glandular epithelial cells of the caecum adenocarcinoma of cecum adenocarcinoma of the cecum caecum adenocarcinoma cecal adenocarcinoma cecum adenocarcinoma cecum adenocarcinoma MONDO:0006029 A carcinoma that arises from epithelial cells of the caecum cecal cancer cecum cancer caecum carcinoma carcinoma of caecum carcinoma of cecum carcinoma of the cecum cecum carcinoma cecum carcinoma MONDO:0006030 Recurrent infections of the urinary bladder. cystitis, chronic chronic cystitis MONDO:0006031 Chronic form of sinusitis. chronic sinusitis sinusitis, chronic chronic rhinosinusitis MONDO:0006032 Inflammation of the urinary bladder. bladder infection inflammation of urinary bladder urinary bladder inflammation cystitis MONDO:0006033 A neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis. https://github.com/monarch-initiative/mondo/issues/5432 DIPG diffuse midline glioma infiltrative brainstem glioma diffuse intrinsic pontine glioma https://rarediseases.info.nih.gov/diseases/13075/diffuse-intrinsic-pontine-glioma MONDO:0006034 A carcinoma that arises from the stomach and is characterized by the presence of malignant cells with glandular and squamous differentiation. adenosquamous carcinoma of stomach adenosquamous carcinoma of the stomach gastric (stomach) adenosquamous cancer gastric adenosquamous carcinoma stomach adenosquamous carcinoma STAS gastric adenosquamous carcinoma MONDO:0006035 A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules. gastric tubular adenocarcinoma stomach tubular adenocarcinoma tubular adenocarcinoma of stomach tubular adenocarcinoma of the stomach tubular stomach adenocarcinoma gastric tubular adenocarcinoma MONDO:0006036 A slow-growing, malignant tumor, characterize by the presence of granulosa-like cells and Call-Exner bodies, that is almost always found in the ovary. In rare cases, it has also been found in the testicle. There are two types of granulosa cell tumor that can be distinguished under the microscope: the adult and the juvenile. The testicular juvenile granulosa cell tumors are perhaps the most common congenital testicular neoplasms. granulosa cell neoplasm granulosa cell neoplasm (disease) granulosa cell tumor granulosa cell tumor, adult type granulosa cell tumor, adult type (morphologic abnormality) granulosa cell tumour, sarcomatoid neoplasm of granulosa cell tumor of granulosa cell GRCT granulosa cell tumor, undetermined granulosa cell tumor MONDO:0006037 Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities. Salonen-Herva-Norio syndrome HLS hydrolethalus hydrolethalus syndrome https://rarediseases.info.nih.gov/diseases/6683/hydrolethalus-syndrome MONDO:0006038 It describes patients in whom a diagnosis of ulcerative colitis or Crohn's disease cannot be made based on standard clinical testing, including colonoscopy, imaging, laboratory tests, and biopsy. colitis of indeterminate type indeterminate colitis MONDO:0006039 A viral or bacterial infectious process affecting the large intestine. infectious colitis infectious colitis MONDO:0006040 Metabolic acidosis characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia. lactic acidosis MONDO:0006041 A neuroendocrine neoplasm that arises from the lung. It is characterized by the presence of uniform polygonal cells with small or moderate amount of cytoplasm and inconspicuous nucleoli. The cells are usually arranged in organoid and trabecular patterns. It is classified as typical or atypical carcinoid tumor based on the number of mitotic figures and the absence or presence of necrosis. Atypical carcinoid tumors have a worse prognosis. carcinoid tumor (disease) of lung carcinoid tumor of lung carcinoid tumor of the lung lung carcinoid tumor lung carcinoid tumor (disease) pulmonary carcinoid tumor lung carcinoid lung carcinoid tumor MONDO:0006042 A bacterial infection of the membranes covering the brain and the spinal cord caused by Mycobacterium tuberculosis. https://github.com/monarch-initiative/mondo/issues/4239 TB meningitis TBM tubercular meningitis tuberculous meningitis meningeal tuberculosis MONDO:0006043 A group of invasive breast carcinomas characterized by the presence of an adenocarcinomatous component which is admixed with a dominant component that is composed of squamous cells, spindle cells, or mesenchymal cells. metaplastic breast carcinoma metaplastic carcinoma of breast metaplastic carcinoma of the breast breast metaplastic carcinoma metaplastic breast cancer metaplastic breast carcinoma MONDO:0006044 Hardening of the kidney due to infiltration by fibrous connective tissue (fibrosis), usually caused by renovascular diseases or chronic hypertension. Nephrosclerosis leads to renal ischemia. renal sclerosis nephrosclerosis https://rarediseases.info.nih.gov/diseases/7179/nephrosclerosis MONDO:0006045 A malignant glandular epithelial neoplasm characterized by the presence of clear and hobnail cells. It is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia. clear cell adenocarcinoma of ovary ovarian clear cell adenocarcinoma ovary clear cell adenocarcinoma clear cell adenocarcinoma of the ovary ovarian clear cell adenocarcinoma MONDO:0006046 A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features. ovarian serous cystadenocarcinoma ovarian serous cystadenocarcinoma MONDO:0006047 A carcinoma that arises from glandular epithelial cells of the pancreas adenocarcinoma - pancreas adenocarcinoma of pancreas adenocarcinoma of the pancreas pancreas adenocarcinoma pancreatic adenocarcinoma PAAD pancreatic adenocarcinoma MONDO:0006049 A morphologic variant of lung adenocarcinoma characterized by the presence of papillary structures. lung papillary adenocarcinoma lung papillary-adenocarcinoma papillary adenocarcinoma of lung papillary adenocarcinoma of the lung papillary lung adenocarcinoma papillary lung adenocarcinoma MONDO:0006050 A rare, aggressive, high grade invasive ductal carcinoma, not otherwise specified. It is characterized by the presence of pleomorphic and bizarre malignant cells that constitute more than 50 percent of the malignant cellular infiltrate. anaplastic breast carcinoma _:comment___:_:@___:_:createdBy__http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern___:.__PMID:25197400 pleomorphic breast carcinoma MONDO:0006052 A bacterial infection that affects the lungs and is caused by Mycobacterium tuberculosis. Most patients with tuberculosis do not have symptoms (latent tuberculosis) and are not contagious. When signs and symptoms occur (active tuberculosis), patients become contagious. The signs and symptoms include chronic cough with blood-tinged sputum, night sweats, fever, fatigue, and weight loss. lung TB lung tuberculosis pulmonary TB pulmonary tuberculosis MONDO:0006053 A leiomyoma that involves the kidney. kidney leiomyoma leiomyoma of kidney renal leiomyoma MONDO:0006054 A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system. neoplasm of reproductive system neoplasm of the reproductive system reproductive neoplasm reproductive system neoplasm reproductive system neoplasm (disease) reproductive system tumor reproductive tumor tumor of reproductive system tumor of the reproductive system reproductive system neoplasm MONDO:0006055 A neoplasm involving a sex cord. Sex cord stromal tumour Sex cord-stromal neoplasm Sex cord-stromal tumor Sex cord-stromal tumor, no ICD-O subtype Sex cord-stromal tumor, no ICD-O subtype (morphologic abnormality) neoplasm of sex cord sex cord neoplasm sex cord tumor sex cord-gonadal stromal tumor sex cord-stromal tumor specialized gonadal neoplasm specialized gonadal neoplasm (morphologic abnormality) specialized gonadal neoplasm NOS (morphologic abnormality) specialized gonadal tumor specialized gonadal tumor (qualifier value) tumor of sex cord malignant testicular sex cord-stromal tumor sex cord-stromal tumor MONDO:0006056 A rare carcinoma that arises from the breast parenchyma and is entirely composed of squamous cells. breast primary squamous cell carcinoma breast squamous cell carcinoma primary squamous cell breast carcinoma primary squamous cell carcinoma of breast primary squamous cell carcinoma of the breast scc of breast scc of the breast squamous breast carcinoma squamous carcinoma of breast squamous carcinoma of the breast squamous cell breast carcinoma squamous cell carcinoma of breast squamous cell carcinoma of the breast metaplastic squamous cell carcinoma squamous cell breast carcinoma MONDO:0006058 An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix. https://github.com/monarch-initiative/mondo/issues/5537 Wilms tumor Wilms' tumor Wilms tumor (nephroblastoma) Wilms tumor MONDO:0006059 A squamous cell carcinoma that arises from the nasal cavity mucosa. Signs and symptoms include nasal fullness and obstruction, pain, epistaxis, and the presence of a nasal mass. nasal cavity squamous cell carcinoma squamous cell carcinoma of nasal cavity squamous cell carcinoma of the nasal cavity nasal cavity squamous cell carcinoma MONDO:0006060 A squamous cell carcinoma that arises from the nasopharynx. nasopharyngeal squamous cell carcinoma MONDO:0006061 A tear within the wall of any of the arteries of the neck (carotid artery or vertebral artery) and that allows blood to separate the wall layers. By separating a portion of the wall of the artery (a layer of the Tunica intima or tunica media), a dissection creates two lumens or passages within the vessel, the native or true lumen, and the "false lumen" created by the new space within the wall of the artery. cervical artery dissection MONDO:0006065 Adult onset lactose intolerance https://github.com/monarch-initiative/mondo/issues/4521 adult lactase deficiency disaccharide intolerance 3 hypolactasia, adult type lactase persistence/nonpersistence lactose intolerance, ADULT type lactose intolerance adult type MONDO:0006066 A variant of acinar prostate adenocarcinoma characterized by the presence of malignant cells with abundant xanthomatous appearing cytoplasm. acinar prostate adenocarcinoma, foamy gland variant MONDO:0006067 A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin. acinar colloid prostate adenocarcinoma colloid adenocarcinoma of prostate colloid adenocarcinoma of the prostate colloidal adenocarcinoma of prostate colloidal adenocarcinoma of the prostate colloidal prostate adenocarcinoma mucinous adenocarcinoma of prostate mucinous adenocarcinoma of the prostate prostate colloid adenocarcinoma acinar prostate mucinous adenocarcinoma MONDO:0006068 An adenoma of the pituitary gland that produces corticotropin. The vast majority of cases are associated with Cushing disease. Clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily. Silent or hormonally non-functioning ACTH producing adenomas have also been described. They produce symptoms of a mass-related lesion. ACTH producing pituitary gland adenoma ACTH secreting adenoma of pituitary ACTH secreting adenoma of the pituitary ACTH-producing pituitary adenoma ACTH-producing pituitary gland adenoma ACTH-secreting adenoma of pituitary ACTH-secreting adenoma of pituitary gland ACTH-secreting adenoma of the pituitary ACTH-secreting adenoma of the pituitary gland ACTHoma Corticotropinoma adrenocorticotropin producing adenoma of pituitary adrenocorticotropin producing adenoma of pituitary gland adrenocorticotropin producing adenoma of the pituitary adrenocorticotropin producing adenoma of the pituitary gland adrenocorticotropin producing pituitary adenoma adrenocorticotropin producing pituitary gland adenoma adrenocorticotropin secreting adenoma of pituitary adrenocorticotropin secreting adenoma of pituitary gland adrenocorticotropin secreting adenoma of the pituitary adrenocorticotropin secreting adenoma of the pituitary gland adrenocorticotropin secreting pituitary adenoma adrenocorticotropin secreting pituitary gland adenoma corticotroph adenoma corticotropic adenoma corticotropin secreting adenoma of the pituitary corticotropin secreting pituitary gland adenoma pituitary ACTH secreting adenoma pituitary ACTH-secreting adenoma pituitary corticotropin secreting adenoma pituitary gland ACTH-secreting adenoma ACTH-producing pituitary gland adenoma MONDO:0006069 A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. It may be associated with Cushing disease. ACTH producing pituitary gland carcinoma malignant ACTH producing neoplasm of pituitary malignant ACTH producing neoplasm of pituitary gland malignant ACTH producing neoplasm of the pituitary malignant ACTH producing neoplasm of the pituitary gland malignant ACTH producing pituitary gland neoplasm malignant ACTH producing pituitary gland tumor malignant ACTH producing pituitary neoplasm malignant ACTH producing pituitary tumor malignant ACTH producing tumor of pituitary malignant ACTH producing tumor of pituitary gland malignant ACTH producing tumor of the pituitary malignant ACTH producing tumor of the pituitary gland malignant ACTH secreting neoplasm of pituitary malignant ACTH secreting neoplasm of pituitary gland malignant ACTH secreting neoplasm of the pituitary malignant ACTH secreting neoplasm of the pituitary gland malignant ACTH secreting pituitary gland tumor malignant ACTH secreting pituitary neoplasm malignant ACTH secreting pituitary tumor malignant ACTH secreting tumor of pituitary malignant ACTH secreting tumor of pituitary gland malignant ACTH secreting tumor of the pituitary malignant ACTH secreting tumor of the pituitary gland malignant Corticotropinoma of pituitary malignant Corticotropinoma of pituitary gland malignant Corticotropinoma of the pituitary malignant Corticotropinoma of the pituitary gland malignant adrenocorticotropin producing neoplasm of pituitary malignant adrenocorticotropin producing neoplasm of pituitary gland malignant adrenocorticotropin producing neoplasm of the pituitary malignant adrenocorticotropin producing neoplasm of the pituitary gland malignant adrenocorticotropin producing pituitary gland neoplasm malignant adrenocorticotropin producing pituitary gland tumor malignant adrenocorticotropin producing pituitary neoplasm malignant adrenocorticotropin producing pituitary tumor malignant adrenocorticotropin producing tumor of pituitary malignant adrenocorticotropin producing tumor of pituitary gland malignant adrenocorticotropin producing tumor of the pituitary malignant adrenocorticotropin producing tumor of the pituitary gland malignant adrenocorticotropin secreting pituitary gland neoplasm malignant adrenocorticotropin secreting pituitary gland tumor malignant adrenocorticotropin secreting pituitary neoplasm malignant adrenocorticotropin secreting pituitary tumor malignant corticotropin secreting pituitary gland neoplasm malignant pituitary Corticotropinoma malignant pituitary gland Corticotropinoma ACTH-producing pituitary gland carcinoma MONDO:0006071 A benign neoplasm characterized by the presence of connective tissue stroma and epithelial structures. It occurs in the ovary, fallopian tube, uterine corpus, and cervix. Cases of adenofibroma of the ovary with low grade malignant potential have also been reported. adenofibroma, benign adenofibroma, no ICD-O subtype adenofibroma, no ICD-O subtype (morphologic abnormality) benign mixed Muellerian tumor female reproductive system adenofibroma adenofibroma MONDO:0006073 A benign, slow growing neoplasm arising from tooth-forming tissues. The vast majority of cases are intraosseous and most often grow in the maxilla. It is characterized by the presence of odontogenic epithelium which is embedded in a connective tissue stroma. Local excision is curative and recurrences are very rare. adenomatoid odontogenic neoplasm adenomatoid odontogenic tumor MONDO:0006074 A carcinoma composed of malignant glandular cells and malignant squamous cells. adenosquamous carcinoma adenosquamous carcinoma (morphologic abnormality) adenosquamous cell carcinoma carcinoma, adenosquamous, malignant mixed adenocarcinoma and epidermoid carcinoma mixed adenocarcinoma and epidermoid cell carcinoma mixed adenocarcinoma and squamous carcinoma mixed adenocarcinoma and squamous cell carcinoma adenosquamous carcinoma MONDO:0006075 A benign soft tissue lesion arising from the adrenal gland. It is composed of mature adipose and hematopoietic/lymphoid tissues. MYELOLIPOMA, benign Myelolipoma adrenal gland myelolipoma adrenal gland myelolipoma MONDO:0006076 A neuroblastoma arising from the adrenal gland. adrenal gland neuroblastoma adrenal neuroblastoma neuroblastoma of adrenal neuroblastoma of adrenal gland neuroblastoma of the adrenal neuroblastoma of the adrenal gland adrenal gland neuroblastoma MONDO:0006077 A hyperplasia that involves the adrenal medulla. adrenal medulla hyperplasia adrenal medullary hyperplasia MONDO:0006078 A lymphoma (non-Hodgkin or Hodgkin) arising from the central nervous system and occurring in HIV-positive patients. AIDS related lymphoma of primary central nervous system AIDS related lymphoma of the primary central nervous system AIDS related primary CNS lymphoma AIDS related primary central nervous system lymphoma AIDS-related lymphoma of primary central nervous system AIDS-related lymphoma of the primary central nervous system AIDS-related primary CNS lymphoma AIDS-related primary central nervous system lymphoma MONDO:0006079 A rare, cytologically malignant ameloblastoma that may metastasize. ameloblastic carcinoma odontoma, ameloblastic, malignant ameloblastic carcinoma https://rarediseases.info.nih.gov/diseases/11855/ameloblastic-carcinoma MONDO:0006081 A melanoma arising from the anus. Clinical presentation includes rectal bleeding, tenesmus, pain, and change in bowel habit. The prognosis is usually poor. anal malignant melanoma anal melanoma anus melanoma anus melanoma (disease) malignant anus melanoma malignant melanoma of anus malignant melanoma of the anus melanoma (disease) of anus melanoma of anus melanoma of the anus Editor note: TODO relationship to mucosa anal melanoma MONDO:0006082 A squamous cell carcinoma (SCC) arising from the anal canal or the anal margin (perianal skin). Human papillomavirus is detected in the majority of cases. Homosexual HIV-positive men have an increased risk of developing anal squamous cell carcinoma in comparison to the general male population. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding. The prognosis is generally better for anal margin SCC than for anal canal SCC. anal squamous cell cancer anal squamous cell carcinoma anus squamous cell carcinoma epidermoid anal carcinoma epidermoid carcinoma of anus epidermoid carcinoma of the anus squamous cell anal carcinoma squamous cell carcinoma - anus squamous cell carcinoma of anus squamous cell carcinoma of the anus ANSC anal squamous cell carcinoma MONDO:0006085 A lipoma with prominent vascularity. The vascular tissue is more abundant at the periphery of the tumor and contains fibrin thrombi. It occurs more frequently in younger individuals as a painful subcutaneous nodule, often on the arms. angiolipoma, benign angiolipoma MONDO:0006086 A benign soft tissue neoplasm characterized by the presence of neoplastic spindle and stellate cells, and vascular proliferation in a myxoid stroma. https://github.com/monarch-initiative/mondo/issues/5537 angiomyxoma MONDO:0006087 A carcinoma that arises from glandular epithelial cells of the vermiform appendix. adenocarcinoma of appendix adenocarcinoma of the appendix appendiceal adenocarcinoma appendix adenocarcinoma vermiform appendix adenocarcinoma APAD appendix adenocarcinoma MONDO:0006088 A circumscribed neoplasm arising from the glandular epithelium of the appendix. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe. appendix adenoma vermiform appendix adenoma appendix adenoma MONDO:0006090 A non-neoplastic polyp that arises from the appendix. It is characterized by the presence of elongated serrated crypts and the absence of atypia or dysplasia. appendix metaplastic polyp vermiform appendix hyperplastic polyp appendix hyperplastic polyp MONDO:0006091 A well differentiated, low grade tumor with neuroendocrine differentiation that arises from the appendix. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. appendiceal carcinoid tumor appendix NET G1 appendix NET G1 (carcinoid) appendix carcinoid tumor appendix neuroendocrine tumor G1 (carcinoid) carcinoid tumor of appendix carcinoid tumor of the appendix grade 1 neuroendocrine neoplasm of vermiform appendix vermiform appendix NET G1 vermiform appendix carcinoid tumor vermiform appendix carcinoid tumor (disease) vermiform appendix neuroendocrine neoplasm G1 vermiform appendix neuroendocrine tumor, well differentiated, low grade appendix carcinoid endocrine tumour appendix neuroendocrine tumor G1 MONDO:0006092 An adenoma arising from the appendix. It is characterized by the presence of villous epithelial structures and it is associated with dysplasia. appendix villous adenoma vermiform appendix villous adenoma villous adenoma of appendix villous adenoma of the appendix appendix villous adenoma MONDO:0006093 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ascending colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. ascending colon NET G1 ascending colon carcinoid tumor ascending colon carcinoid tumor (disease) ascending colon neuroendocrine neoplasm G1 ascending colon neuroendocrine tumor G1 ascending colon neuroendocrine tumor, well differentiated, low grade carcinoid tumor of ascending colon carcinoid tumor of the ascending colon grade 1 neuroendocrine neoplasm of ascending colon ascending colon neuroendocrine tumor G1 MONDO:0006094 A primitive neuroectodermal tumor (small round blue cell tumor) of the thorax which can involve the periosteum, thoracic wall and/or pleura though it spares the lung parenchyma. Askin tumor Askin's tumor PNET of thoracopulmonary region peripheral neuroectodermal tumor of thoracopulmonary region small cell tumor of thoracopulmonary region Editor note: in DO this is classified as Ewing sarcoma but we follow NCIT in placing as sibling Askin tumor MONDO:0006095 A carcinoid tumor characterized by a high mitotic rate, often associated with the presence of necrosis and nuclear pleomorphism. atypical carcinoid tumor malignant carcinoid tumor atypical carcinoid tumor MONDO:0006096 An endometrial hyperplasia characterized by cytologic and architectural changes which may lead to endometrial carcinoma. Despite the atypical features and possible course, there is debate on whether to consider this a neoplasm. The relationship with endometrial intraepithelial neoplasia is also unclear. atypical hyperplasia of endometrium atypical hyperplasia of the endometrium endometrial hyperplasia with atypia atypical endometrial hyperplasia MONDO:0006097 An intermediate, locally aggressive lipomatous neoplasm. Microscopically, the adipose tissue contains large and pleomorphic lipoblasts, and is dissected by fibrous septa containing spindle cells. It requires a wide local excision, may recur locally, but never metastasizes. well differentiated liposarcoma ALT Atypical lipoma lipoma-like liposarcoma liposarcoma, well differentiated (morphologic abnormality) superficial well differentiated liposarcoma well differentiated liposarcoma of superficial soft tissue atypical lipomatous tumor MONDO:0006098 Lobular neoplasia characterized by lobular epithelial proliferation that does not completely fill the lobular unit of the breast. ALH atypical breast lobular hyperplasia atypical lobular breast hyperplasia atypical lobular hyperplasia atypical lobular hyperplasia of breast atypical lobular hyperplasia of the breast atypical lobular breast hyperplasia MONDO:0006102 A malignant epithelial neoplasm characterized by the presence of neoplastic cells with hyperchromatic nuclei, small amount of cytoplasm, and peripheral nuclear palisading. basaloid carcinoma basaloid carcinoma MONDO:0006103 A sporadic or familial pheochromocytoma that is confined to the adrenal gland and does not have any metastatic potential. The majority of cases are sporadic, and usually unilateral. Familial cases are usually bilateral. adrenal gland pheochromocytoma, benign benign adrenal gland pheochromocytoma pheochromocytoma, benign benign adrenal gland pheochromocytoma MONDO:0006104 A carotid body paraganglioma that is confined to the site of origin, without metastatic potential. benign carotid body paraganglioma carotid body paraganglioma, benign benign chemodectoma chemodectoma, benign benign carotid body paraganglioma MONDO:0006105 Abnormal growth of the cells of the conjunctiva without malignant characteristics. benign conjunctiva neoplasm benign conjunctiva tumor benign conjunctival neoplasm benign conjunctival tumor benign neoplasm of conjunctiva benign neoplasm of the conjunctiva benign tumor of conjunctiva benign tumor of the conjunctiva conjunctiva benign neoplasm benign conjunctival neoplasm MONDO:0006106 A benign mesenchymal neoplasm arising from smooth muscle tissue. benign neoplasm of smooth muscle benign neoplasm of the smooth muscle benign smooth muscle neoplasm benign smooth muscle tumor benign tumor of smooth muscle benign tumor of the smooth muscle smooth muscle tissue benign neoplasm benign smooth muscle neoplasm MONDO:0006107 A benign neoplasm arising from the thyroid gland. benign neoplasm of the thyroid benign neoplasm of the thyroid gland benign neoplasm of thyroid benign neoplasm of thyroid gland benign neoplasm of thyroid glands benign thyroid gland neoplasm benign thyroid gland tumor benign thyroid neoplasm benign thyroid tumor benign tumor of the thyroid benign tumor of the thyroid gland benign tumor of thyroid benign tumor of thyroid gland thyroid gland benign neoplasm thyroid neoplasm, benign benign thyroid gland neoplasm MONDO:0006108 A benign, well-demarcated polypoid neoplasm arising from the bile duct epithelium. According to the growth pattern, it is classified as tubular, papillary, or tubulopapillary. Adenomas arising from the extrahepatic bile ducts usually produce symptoms related to biliary obstruction. CHOLANGIOMA, benign Cholangioadenoma Cholangioma Hepatocholangiocellular adenoma Hepatocholangioma adenoma of bile duct adenoma of the bile duct bile duct adenoma bile duct adenoma (morphologic abnormality) bile duct adenoma MONDO:0006109 A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic epithelioid cells and sarcomatoid features. biphasic mesothelioma malignant biphasic mesothelioma malignant biphasic mesothelioma, malignant malignant mixed mesothelioma mesothelioma, biphasic, malignant mesothelioma, biphasic, malignant (morphologic abnormality) mixed mesothelioma malignant biphasic mesothelioma MONDO:0006111 A non-papillary neoplasm of the urinary bladder, whose classification categories include low-grade intraurothelial neoplasia and urothelial carcinoma in situ. bladder flat intraepithelial lesion flat intraepithelial lesion of the bladder flat intraepithelial lesion of the urinary bladder urinary bladder flat intraepithelial lesion bladder flat intraepithelial lesion MONDO:0006112 A multinodular intermediate fibroblastic neoplasm arising from the bladder. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells. bladder inflammatory myofibroblastic neoplasm bladder inflammatory myofibroblastic tumor inflammatory myofibroblastic neoplasm of bladder inflammatory myofibroblastic neoplasm of the bladder inflammatory myofibroblastic neoplasm of the urinary bladder inflammatory myofibroblastic neoplasm of urinary bladder inflammatory myofibroblastic tumor of bladder inflammatory myofibroblastic tumor of the bladder inflammatory myofibroblastic tumor of the urinary bladder inflammatory myofibroblastic tumor of urinary bladder urinary bladder inflammatory myofibroblastic neoplasm urinary bladder inflammatory myofibroblastic tumor inflammatory myofibroblastic bladder tumor bladder inflammatory myofibroblastic tumor MONDO:0006115 An advanced phase of chronic myelogenous leukemia. It is characterized by: 1. the presence of blasts in the peripheral blood or bone marrow that are at least 20% of the peripheral blood white cells or of the nucleated cells in the bone marrow respectively, or 2. an extramedullary proliferation of blasts, and/or 3. when there are large aggregates and clusters of blasts in the bone marrow biopsy specimen (adapted from WHO, 2001). blast crisis blast phase CML blast phase chronic granulocytic leukemia blast phase chronic myelocytic leukemia blast phase chronic myelogenous leukemia blast phase chronic myeloid leukemia blastic phase CML blastic phase chronic granulocytic leukemia blastic phase chronic myelocytic leukemia blastic phase chronic myelogenous leukemia blastic phase chronic myeloid leukemia blast crises blast phase blast phases crises, blast crisis, blast phase, blast phases, blast blast phase chronic myelogenous leukemia, BCR-ABL1 positive MONDO:0006116 A header term that includes the following breast carcinoma subtypes determined by gene expression profiling: luminal A breast carcinoma, luminal B breast carcinoma, HER2 positive breast carcinoma, basal-like breast carcinoma, triple-negative breast carcinoma, and normal breast-like subtype of breast carcinoma. breast carcinoma by gene expression profile breast carcinoma by gene expression profile MONDO:0006117 A diffuse large B-cell lymphoma that arises from the breast. It is the most common type of primary breast lymphoma. breast DLBCL breast diffuse large B-cell lymphoma diffuse large B-cell lymphoma of breast breast diffuse large B-cell lymphoma MONDO:0006118 Breast fibrocystic change characterized by the prominence of fibrotic changes in the parenchyma. breast fibrosclerosis breast fibrosis fibrosclerosis of breast fibrosclerosis of the breast fibrosis of breast fibrosis of the breast breast fibrosis MONDO:0006119 An extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue that arises from the breast as a primary tumor. breast MALT lymphoma breast mucosa-associated lymphoid tissue lymphoma breast mucosa-associated lymphoid tissue lymphoma MONDO:0006120 Neoplastic or reactive proliferation of the C-cells in the thyroid gland. The neoplastic C-cell hyperplasia is associated with familial medullary thyroid gland carcinoma and multiple endocrine neoplasia type II and IIB. Morphologically, it is characterized by the presence of clusters of intrafollicular C-cells with atypical cytologic features. The reactive C-cell hyperplasia is also known as physiological or secondary C-cell hyperplasia and it is associated with conditions that cause hypercalcemia (e.g., hyperparathyroidism). C-cell hyperplasia C-cell hyperplasia MONDO:0006121 A benign well-circumscribed paucicellular lesion arising from the soft tissues. It is characterized by the presence of fibroblasts, lymphoplasmacytic infiltrates, collagenous stroma formation, psammoma bodies, and dystrophic calcifications. CFT calcifying fibrous pseudotumor calcifying fibrous tumor calcifying fibrous tumor MONDO:0006122 A rare malignant tumor that arises from the liver and occurs in children. It is characterized by the presence of nested epithelioid and spindle cells. Desmoplasia, calcifications, and bone formation may also be present. calcifying nested epithelial stromal tumor of the liver MONDO:0006123 A well circumscribed benign tumor arising from cardiac muscle. It usually affects children and may be present in the fetus. Depending on tumor location and size, cardiac, respiratory, and hemodynamic parameters may be affected. There is an association between cardiac rhabdomyoma and tuberous sclerosis. cardiac rhabdomyoma (disease) cardiac rhabdomyoma cardiac rhabdomyoma (disease) heart rhabdomyoma rhabdomyoma of heart rhabdomyoma of the heart cardiac rhabdomyoma MONDO:0006126 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the cecum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. caecal carcinoid tumor caecum NET G1 caecum carcinoid tumor caecum carcinoid tumor (disease) caecum neuroendocrine neoplasm G1 caecum neuroendocrine tumor, well differentiated, low grade carcinoid tumor of cecum carcinoid tumor of the cecum cecal carcinoid tumor cecum NET G1 cecum carcinoid tumor cecum neuroendocrine tumor G1 grade 1 neuroendocrine neoplasm of caecum cecum neuroendocrine tumor G1 MONDO:0006128 An anaplastic large cell lymphoma that affects the brain, meninges, or spinal cord. anaplastic CNS large cell lymphoma anaplastic central nervous system large cell lymphoma anaplastic large cell lymphoma of CNS anaplastic large cell lymphoma of central nervous system anaplastic large cell lymphoma of the CNS anaplastic large cell lymphoma of the central nervous system central nervous system anaplastic large cell lymphoma primary CNS anaplastic large cell lymphoma primary central nervous system anaplastic large cell lymphoma central nervous system anaplastic large cell lymphoma MONDO:0006130 A benign or malignant, primary or metastatic neoplasm that affects the brain, meninges, or spinal cord. Representative examples of primary neoplasms include astrocytoma, oligodendroglioma, ependymoma, and meningioma. Representative examples of metastatic neoplasms include carcinoma and leukemia. CNS neoplasm CNS tumor brain/spinal cord tumor central nervous system neoplasm central nervous system neoplasm (disease) central nervous system tumor neoplasm of CNS neoplasm of central nervous system neoplasm of the central nervous system tumor of CNS tumor of central nervous system tumor of the CNS tumor of the central nervous system central nervous system neoplasm MONDO:0006131 A rare, WHO grade II cerebellar neoplasm which shows consistent neuronal, variable astrocytic and focal lipomatous differentiation. It occurs in adults, has a low proliferative potential and usually has a favorable prognosis. (Adapted from WHO) cerebellar liponeurocytoma cerebellar liponeurocytoma (WHO grade II) lipomatous medulloblastoma CLNC lipomatous medulloblastoma (formerly) cerebellar liponeurocytoma https://rarediseases.info.nih.gov/diseases/10642/cerebellar-liponeurocytoma MONDO:0006132 A rare low grade carcinoma that arises from the cervix. It is characterized by the presence of nests of basaloid cells with focal glandular formations. cervical adenoid basal cancer cervical adenoid basal carcinoma MONDO:0006133 A rare carcinoma that arises from the cervix. It is characterized by the presence of cystic spaces surrounded by palisaded epithelial cells. The cystic spaces contain eosinophilic hyaline material or mucin. Nuclear pleomorphism, necrotic changes, and a high mitotic rate are also present. https://github.com/monarch-initiative/mondo/issues/4898 adenoid cystic carcinoma of cervix adenoid cystic carcinoma of cervix uteri adenoid cystic carcinoma of the cervix adenoid cystic carcinoma of the cervix uteri adenoid cystic carcinoma of the uterine cervix adenoid cystic carcinoma of uterine cervix cervical adenoid cystic cancer cervical adenoid cystic carcinoma cervix uteri adenoid cystic carcinoma uterine cervix adenoid cystic carcinoma cervical adenoid cystic carcinoma MONDO:0006134 An uncommon carcinoma arising from the cervix. It is composed of malignant glandular epithelial cells and malignant squamous epithelial cells. adenosquamous carcinoma of cervix adenosquamous cell carcinoma of cervix adenosquamous cell carcinoma of cervix uteri adenosquamous cell carcinoma of the cervix adenosquamous cell carcinoma of the cervix uteri adenosquamous cell carcinoma of the uterine cervix adenosquamous cell carcinoma of uterine cervix cervical adenosquamous cancer cervical adenosquamous carcinoma cervical adenosquamous cell carcinoma cervix adenosquamous cell carcinoma cervix uteri adenosquamous cell carcinoma uterine cervix adenosquamous cell carcinoma cervical adenosquamous carcinoma MONDO:0006135 A rare morphologic variant of cervical adenocarcinoma composed of clear and hobnail cells. It is associated with in utero exposure to diethylstilbestrol (DES). cervical clear cell adenocarcinoma cervical clear cell carcinoma cervix clear cell adenocarcinoma cervix clear cell carcinoma cervix uteri clear cell adenocarcinoma cervix uteri clear cell carcinoma clear cell adenocarcinoma of cervix clear cell adenocarcinoma of cervix uteri clear cell adenocarcinoma of the cervix clear cell adenocarcinoma of the cervix uteri clear cell adenocarcinoma of the uterine cervix clear cell adenocarcinoma of uterine cervix clear cell carcinoma of cervix clear cell carcinoma of cervix uteri clear cell carcinoma of the cervix clear cell carcinoma of the cervix uteri clear cell carcinoma of the uterine cervix clear cell carcinoma of uterine cervix uterine cervix clear cell adenocarcinoma uterine cervix clear cell carcinoma cervical clear cell adenocarcinoma MONDO:0006137 A neoplastic process in the cervix characterized by morphologic features of both moderate and severe intraepithelial neoplasia. CIN 2/3 cervical intraepithelial neoplasia grade 2/3 MONDO:0006138 A rare, aggressive neuroendocrine carcinoma that arises from the cervix and is characterized by the presence of malignant cells with abundant cytoplasm, large nuclei, and prominent nucleoli. cervical large cell neuroendocrine carcinoma cervical neuroendocrine tumor cervical large cell neuroendocrine carcinoma MONDO:0006139 Metaplastic changes in the cervical glandular or squamous epithelium. cervical metaplasia MONDO:0006140 A rare, extremely well differentiated cervical mucinous adenocarcinoma in which most of the neoplastic glands cannot be distinguished from the normal endocervical glands. cervical adenoma malignum cervical mucinous adenocarcinoma, minimal deviation type cervical mucinous adenocarcinoma, minimal deviation variant cervical mucinous adenocarcinoma, minimal deviation variant MONDO:0006141 A cervical adenocarcinoma characterized by the presence of a prominent villoglandular pattern. cervical adenocarcinoma, villoglandular variant cervical villoglandular adenocarcinoma cervical villoglandular carcinoma villoglandular variant cervical mucinous adenocarcinoma villoglandular adenocarcinoma of the cervix cervical villoglandular adenocarcinoma MONDO:0006142 A small cell carcinoma arising from the cervix. Cervical small cell cancer cervical small cell carcinoma cervix small cell carcinoma cervix uteri small cell carcinoma small cell carcinoma of cervix small cell carcinoma of cervix uteri small cell carcinoma of the cervix small cell carcinoma of the cervix uteri small cell carcinoma of the uterine cervix small cell carcinoma of uterine cervix uterine cervix small cell carcinoma SCCE cervical small cell carcinoma MONDO:0006143 A squamous cell carcinoma arising from the cervical epithelium. It usually evolves from a precancerous cervical lesion. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors for cervical squamous cell carcinoma. The following histologic patterns have been described: conventional squamous cell carcinoma, papillary squamous cell carcinoma, transitional cell carcinoma, lymphoepithelioma-like carcinoma, verrucous carcinoma, condylomatous carcinoma and spindle cell carcinoma. Survival is most closely related to the stage of disease at the time of diagnosis. cervical squamous cell cancer cervical squamous cell carcinoma cervix squamous cell carcinoma cervix uteri squamous cell carcinoma squamous cell carcinoma of cervix squamous cell carcinoma of cervix uteri squamous cell carcinoma of the cervix squamous cell carcinoma of the cervix uteri squamous cell carcinoma of the uterine cervix squamous cell carcinoma of uterine cervix squamous cervical cancer uterine cervix squamous cell carcinoma CESC cervical squamous cell carcinoma MONDO:0006144 An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney. cervical Wilms tumor cervical Wilms' tumor cervical Wilms tumor MONDO:0006145 A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. The tumor is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells and cartilage. chondroid chordoma chondroid chordoma (morphologic abnormality) chondroid chordoma MONDO:0006146 A hamartoma that is characterized by the presence of chondroid elements. chondroid hamartoma MONDO:0006149 A benign cystic glandular epithelial neoplasm characterized by the presence of neoplastic clear or hobnail cells which form papillary structures. There is no evidence of stromal invasion. clear cell papillary cystadenoma clear cell papillary cystadenoma MONDO:0006150 A rare Burkitt lymphoma that arises from the colon. Burkitt lymphoma of colon Burkitts lymphoma of colon colon Burkitt lymphoma colon Burkitt's lymphoma colon Burkitts lymphoma primary colon Burkitt's lymphoma colon Burkitt lymphoma MONDO:0006151 A morphologic finding indicating the presence of dysplastic glandular epithelial cells in the colonic mucosa. There is no evidence of invasion. colonic dysplasia dysplasia of colon dysplasia of the colon Editor notes: not in NCIT neoplas subset colon dysplasia MONDO:0006152 A non-neoplastic polypoid lesion in the colon. It may arise in a background of inflammatory bowel disease or colitis. It is characterized by the presence of a distorted epithelium, inflammation, and fibrosis. colonic inflammatory polyp inflammatory polyp of colon inflammatory polyp of the colon colon inflammatory polyp MONDO:0006153 A non-neoplastic hamartomatous polyp that arises from the colon. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation. colon retention polyp colonic juvenile polyp colonic retention polyp juvenile polyp of colon juvenile polyp of the colon retention polyp of colon retention polyp of the colon colon juvenile polyp MONDO:0006154 An extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that arises from the colon. MALT lymphoma of colon MALT lymphoma of the colon MALToma of colon MALToma of the colon colon MALT lymphoma colon MALToma colonic MALT lymphoma colonic MALToma colonic mucosa-associated lymphoid tissue lymphoma colon mucosa-associated lymphoid tissue lymphoma MONDO:0006155 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. carcinoid tumor of colon carcinoid tumor of the colon colon NET G1 colon carcinoid tumor colon carcinoid tumor (disease) colon neuroendocrine neoplasm G1 colon neuroendocrine tumor G1 colon neuroendocrine tumor, well differentiated, low grade colonic carcinoid tumor grade 1 neuroendocrine neoplasm of colon colon neuroendocrine tumor G1 MONDO:0006156 A polyp that arises from the colon. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colonic adenocarcinomas with microsatellite instability. colon SSA colon SSA/P colon SSP colon sessile serrated adenoma colon sessile serrated adenoma/polyp colon sessile serrated polyp colon sessile serrated adenoma/polyp MONDO:0006157 An unusual colorectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas. colorectal (colon or rectal) adenosquamous cancer colorectal adenosquamous cancer colorectal adenosquamous carcinoma colorectum adenosquamous carcinoma colorectal adenosquamous carcinoma MONDO:0006158 A diffuse large B-cell lymphoma that arises from the colon or rectum. colorectal DLBCL colorectal diffuse large B-cell lymphoma colorectum diffuse large B-cell lymphoma diffuse large B-cell lymphoma of colorectum colorectal diffuse large B-cell lymphoma MONDO:0006159 A gastrointestinal stromal tumor that arises from the colon or rectum. The majority of cases have spindle cell morphology. Gastrointestinal stromal tumors of the colon are usually advanced upon detection and tend to have a poor prognosis; gastrointestinal stromal tumors of the rectum usually have an aggressive clinical course. colorectal (colon or rectal) gastrointestinal stromal tumor (gist) colorectal gastrointestinal stromal tumor colorectal gastrointestinal stromal tumor (gist) colorectal gist colorectal gastrointestinal stromal tumor MONDO:0006160 A non-neoplastic, hamartomatous polyp that arises from the colon and rectum. This group includes the juvenile polyp, Peutz-Jeghers polyp, and Cowden-associated polyp. colorectal hamartoma colorectum hamartoma (disease) large intestinal hamartoma colorectal hamartoma MONDO:0006161 A non-neoplastic hamartomatous polyp that arises from the colon and rectum. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation. colorectal retention polyp juvenile polyp of large bowel juvenile polyp of the large bowel large bowel juvenile polyp large intestinal juvenile polyp colorectal juvenile polyp MONDO:0006162 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon or rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. colorectal NET G1 colorectal carcinoid tumor colorectal neuroendocrine tumor G1 colorectum NET G1 colorectum carcinoid tumor colorectum neuroendocrine neoplasm G1 colorectum neuroendocrine tumor, well differentiated, low grade grade 1 neuroendocrine neoplasm of colorectum large intestinal neuroendocrine tumor G1 colorectal neuroendocrine tumor G1 MONDO:0006163 A rare, invasive colorectal adenocarcinoma characterized by the presence of a malignant infiltrate with serrated glandular architecture. colorectal serrated adenocarcinoma colorectal serrated adenocarcinoma MONDO:0006164 A polyp that arises from the colon or rectum. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colorectal adenocarcinomas with microsatellite instability. colorectal SSA colorectal SSA/P colorectal SSP colorectal mixed hyperplastic adenomatous polyp colorectal mixed hyperplastic adenomatous polyp/serrated adenoma colorectal sessile serrated adenoma colorectal sessile serrated adenoma/polyp colorectal sessile serrated polyp colorectal sessile serrated adenoma/polyp MONDO:0006165 A very rare colorectal carcinoma characterized by the presence of a malignant squamous cell infiltrate. colorectal (colon or rectal) squamous cell cancer colorectal squamous cell cancer colorectal squamous cell carcinoma colorectum squamous cell carcinoma colorectal squamous cell carcinoma MONDO:0006166 A columnar cell lesion characterized by the presence of enlarged terminal ductal lobular units with dilated acini. The acini are lined by more than two layers of columnar epithelial cells. Prominent apical cytoplasmic snouts are present. Secretions are often present in the lumina of the dilated acini. CCH columnar cell hyperplasia of breast columnar cell hyperplasia of the breast MONDO:0006167 A lung carcinoma characterized by the presence of large or small neuroendocrine carcinoma cells in combination with malignant glandular or squamous epithelial cells. combined carcinoma of lung combined carcinoma of the lung combined lung cancer combined lung carcinoma combined lung carcinoma MONDO:0006169 A hyperplasia characterized by excessive proliferation of endometrial cells, resulting in the formation of complex epithelial structures. Epithelial atypia may be present or absent. complex endometrial hyperplasia MONDO:0006170 Any disorder of the conjunctiva. conjunctiva disease conjunctiva disease or disorder conjunctival disease conjunctival disorder disease of conjunctiva disease or disorder of conjunctiva disorder of conjunctiva conjunctival disorder MONDO:0006172 A benign melanocytic neoplasm that arises from the conjunctiva. Nevus of conjunctiva Nevus of the conjunctiva conjunctival nevus conjunctival nevus MONDO:0006173 A low-grade squamous cell carcinoma that arises from the conjunctiva. It is the most common primary malignant tumor that arises from the conjunctiva. It usually affects older white males. Excessive exposure to sunlight is a risk factor. Patients may present with a mass, red eye, or pain. ocular surface squamous neoplasia conjunctiva epidermoid carcinoma conjunctiva squamous cell carcinoma conjunctival epidermoid carcinoma conjunctival squamous cell cancer conjunctival squamous cell carcinoma epidermoid carcinoma of conjunctiva epidermoid carcinoma of the conjunctiva invasive squamous cell carcinoma of the conjunctiva squamous cell carcinoma of conjunctiva squamous cell carcinoma of the conjunctiva conjunctival squamous cell carcinoma MONDO:0006174 An adenoma of the adrenal cortex that produces cortisol. It may be associated with Cushing syndrome. Clinical presentation includes weight gain, round face, easy bruising, muscle weakness, emotional changes, hirsutism, and hypertension. cortisol producing adrenal cortex adenoma cortisol producing adrenal cortical adenoma cortisol-producing adrenal cortex adenoma cortisol-producing adrenal cortex adenoma MONDO:0006176 A carcinoma characterized by the presence of a cribriform architectural pattern. Representative examples include the intraductal cribriform breast carcinoma and invasive cribriform breast carcinoma. cribriform carcinoma cribriform carcinoma MONDO:0006178 A solitary fibrous tumor characterized by the presence of areas of abrupt transition to high grade sarcoma. dedifferentiated solitary fibrous tumor MONDO:0006179 An ameloblastoma with prominent desmoplastic stroma that causes compression of the neoplastic epithelial islands. desmoplastic ameloblastoma desmoplastic ameloblastoma MONDO:0006180 A sporadic or less frequently familial neoplasm, arising from the glandular epithelium of the stomach, small intestine, biliary tract, colon, and rectum. It is a polypoid or flat circumscribed lesion. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe. The frequency of malignant transformation depends on the size of the lesion and the degree of dysplasia. Larger adenomas with severe dysplastic changes (sometimes called carcinoma in situ) carry a higher risk of progressing to invasive adenocarcinoma. Gastrointestinal adenomas may present as solitary or multifocal lesions. Familial adenomas tend to be multifocal and carry a higher risk of malignant transformation. GI adenoma digestive system adenoma digestive tract adenoma gastrointestinal adenoma digestive system adenoma MONDO:0006181 A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma. carcinoma of digestive system carcinoma of the gastrointestinal system digestive system carcinoma gastrointestinal carcinoma gastrointestinal carcinoma (disease) gastrointestinal system carcinoma digestive system carcinoma MONDO:0006182 A carcinoma that arises from the digestive system and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30% of either component should be present for the diagnosis to be made. MANEC digestive system Mixed Adenoneuroendocrine cancer digestive system mixed adenoneuroendocrine carcinoma gastrointestinal MANEC gastrointestinal mixed Adenoneuroendocrine carcinoma mixed Adenoneuroendocrine carcinoma digestive system mixed adenoneuroendocrine carcinoma MONDO:0006183 A rare, benign process that affects the peritoneal cavity and is characterized by the formation of multiple small nodules that are composed of well differentiated smooth muscle. It usually affects adults in their late reproductive years. Most patients are asymptomatic. The tumor nodules may regress spontaneously. DPL LPD diffuse peritoneal leiomyomatosis disseminated peritoneal leiomyomatosis leiomyomatosis peritonealis disseminata leiomyomatosis peritonealis disseminate disseminated peritoneal leiomyomatosis MONDO:0006184 The co-existence of ductal and lobular carcinoma in situ in the breast, without evidence of stromal invasion. DCIS and LCIS of breast DCIS and LCIS of the breast ductal and lobular breast carcinoma in situ ductal and lobular carcinoma in situ of breast ductal and lobular carcinoma in situ of the breast ductal carcinoma in situ with lobular carcinoma in situ of breast ductal carcinoma in situ with lobular carcinoma in situ of the breast intraductal and lobular breast carcinoma in situ intraductal and lobular carcinoma in situ of breast intraductal and lobular carcinoma in situ of the breast intraductal carcinoma and lobular carcinoma in situ non-infiltrating ductal and non-infiltrating lobular breast carcinoma non-infiltrating ductal with non-infiltrating lobular carcinoma of breast non-infiltrating ductal with non-infiltrating lobular carcinoma of the breast non-invasive ductal and non-invasive lobular breast carcinoma non-invasive ductal and non-invasive lobular carcinoma non-invasive ductal breast carcinoma with non-invasive lobular breast carcinoma non-invasive ductal carcinoma with non-invasive lobular carcinoma of breast non-invasive ductal carcinoma with non-invasive lobular carcinoma of the breast non-invasive ductal with non-invasive lobular breast carcinoma ductal breast carcinoma in situ and lobular carcinoma in situ MONDO:0006186 A carcinoma that arises from glandular epithelial cells of the duodenum. adenocarcinoma of duodenum adenocarcinoma of the duodenum duodenal adenocarcinoma duodenum adenocarcinoma duodenal adenocarcinoma MONDO:0006187 A neoplasm that arises from the glandular epithelium of the duodenum. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features. duodenal villous adenoma duodenum villous adenoma villous adenoma of duodenum villous adenoma of the duodenum villous adenoma, duodenum duodenum adenoma duodenal villous adenoma MONDO:0006188 An Epstein-Barr virus-associated mature T-cell lymphoproliferative group of disorders affecting children. It occurs with increased frequency in Asians and Native Americans. It includes the systemic EBV-positive T-cell lymphoma of childhood and the hydroa vacciniforme-like lymphoma. EBV-positive T-cell lymphoproliferative disease of childhood EBV-positive T-cell lymphoproliferative disorder of childhood EBV-positive T-cell lymphoproliferative disorder of childhood MONDO:0006189 A carcinoma with eccrine differentiation arising from the sweat glands. It may arise de novo or as a malignant transformation of a pre-existing poroma. It usually grows in the legs, buttocks, feet, and trunk and usually presents as an ulcerative plaque. It is characterized by the presence of intraepidermal and dermal nests of malignant epithelial cells. It may recur after excision and metastasize to the lymph nodes and less frequently to distal anatomic sites. eccrine porocarcinoma epidermotropic eccrine carcinoma malignant eccrine poroma porocarcinoma eccrine porocarcinoma of skin porocarcinoma/spiroadenocarcinoma eccrine porocarcinoma https://rarediseases.info.nih.gov/diseases/7431/eccrine-porocarcinoma MONDO:0006190 An aggressive epithelial neoplasm arising from the temporal bone. It is characterized by the presence of a papillary pattern, and has been described as an adenoma or carcinoma in the literature. There is disagreement regarding its relationship to endolymphatic sac tumor. endolymphatic sac tumor (disease) ELST aggressive papillary tumor of the temporal bone endolymphatic sac neoplasm endolymphatic sac neoplasm (disease) endolymphatic sac tumor endolymphatic sac tumor (disease) neoplasm of endolymphatic sac tumor of endolymphatic sac endolymphatic sac tumor MONDO:0006191 A clear cell adenocarcinoma that involves the endometrium. clear cell carcinoma of endometrium clear cell carcinoma of the endometrium endometrial clear cell adenocarcinoma endometrium clear cell adenocarcinoma endometrial clear cell adenocarcinoma MONDO:0006192 A primary endometrial adenocarcinoma composed of neoplastic cells that form complex glandular patterns associated with budding and branching of the neoplastic glands. The neoplastic glands resemble those of the normal endometrium and may or may not be associated with sheet-like proliferation of malignant cells. Endometrioid adenocarcinoma is the most commonly seen morphologic variant of endometrial adenocarcinoma. endometrial endometrioid adenocarcinoma endometrioid adenocarcinoma of endometrium endometrioid adenocarcinoma of the endometrium endometrioid carcinoma of endometrium endometrioid carcinoma of the endometrium endometrioid endomet. adenocar. endometrioid endometrial adenocarcinoma uterine corpus endometrioid adenocarcinoma uterine corpus endometrioid carcinoma uterine endometrioid carcinoma endometrial endometrioid adenocarcinoma MONDO:0006193 Simple or complex endometrial hyperplasia characterized by the absence of epithelial atypia. typical endometrial hyperplasia endometrial hyperplasia without atypia MONDO:0006195 A benign nodular lesion protruding above the surface of the endometrium. It is composed of a fibrous stroma that contains thick-walled blood vessels and dilated endometrial glands. Polypectomy is the treatment of choice. Only few cases with recurrence have been reported. endometrial polyp endometrial stromal polyp endometrium polyp polyp of endometrium polyp of the endometrium polyp, endometrial stromal, benign endometrial polyp MONDO:0006196 A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor. uterine serous adenocarcinoma uterine serous carcinoma endometrial serous adenocarcinoma serous endometrial adenocarcinoma uterine papillary serous carcinoma uterine serous papillary adenocarcinoma uterine corpus serous adenocarcinoma endometrial serous adenocarcinoma MONDO:0006197 A primary carcinoma of the endometrium that is similar to the small cell carcinoma of the lung, histologically. endometrial small cell carcinoma endometrium small cell carcinoma small cell carcinoma of endometrium endometrial small cell carcinoma MONDO:0006198 A primary carcinoma of the endometrium characterized by the presence of malignant squamous cells. endometrial squamous cell carcinoma endometrium squamous cell carcinoma squamous cell carcinoma of endometrium squamous cell carcinoma of the endometrium endometrial squamous cell carcinoma MONDO:0006199 A primary carcinoma of the endometrium characterized by the presence of malignant cells that lack evidence of differentiation. endometrial undifferentiated carcinoma undifferentiated endometrial carcinoma endometrial undifferentiated carcinoma MONDO:0006200 A uveal melanoma characterized by the presence of malignant large epithelioid melanocytes. epithelioid cell melanoma of uvea epithelioid cell uveal melanoma uvea epithelioid cell melanoma uveal epithelioid cell melanoma epithelioid cell uveal melanoma MONDO:0006201 An adenoid cystic carcinoma that affects the ethmoid sinus. adenoid cystic carcinoma of the ethmoid sinus adenoid cystic carcinoma of ethmoid sinus ethmoid sinus adenoid cystic carcinoma MONDO:0006202 A carcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of glandular and squamous malignant epithelial components. extrahepatic bile duct adenosquamous carcinoma adenosquamous bile duct carcinoma adenosquamous carcinoma of bile duct adenosquamous carcinoma of the bile duct bile duct adenosquamous carcinoma extrahepatic bile duct adenosquamous carcinoma MONDO:0006203 A carcinoma that arises from the extrahepatic bile ducts. It is composed entirely by malignant squamous epithelial cells. bile duct squamous cell carcinoma squamous cell bile duct carcinoma squamous cell carcinoma of bile duct squamous cell carcinoma of the bile duct extrahepatic bile duct squamous cell carcinoma extrahepatic bile duct squamous cell carcinoma MONDO:0006206 A carcinoma that arises from epithelial cells of the fallopian tube. cancer of fallopian tube cancer of the fallopian tube fallopian tube cancer carcinoma of fallopian tube carcinoma of the fallopian tube fallopian tube Ca fallopian tube carcinoma fallopian tube carcinoma MONDO:0006207 A carcinosarcoma that arises from the fallopian tube. It usually affects postmenopausal women and presents with abdominal pain, abdominal distension or genital bleeding. The prognosis is usually poor. fallopian tube carcinosarcoma fallopian tube malignant mixed Mullerian tumor fallopian tube malignant mixed mesodermal (Müllerian) tumor fallopian tube malignant mixed mesodermal (mullerian) tumor fallopian tube carcinosarcoma MONDO:0006208 A serous adenocarcinoma that arises from the fallopian tube. It is usually a high grade invasive adenocarcinoma. fallopian tube serous adenocarcinoma fallopian tube serous adenocarcinoma MONDO:0006209 A benign, intermediate, or malignant mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts. fibroblastic neoplasm fibroblastic tumor fibrocytic neoplasm fibrocytic tumor fibrogenic neoplasm fibrogenicTumor fibrous neoplasm fibrous tumor fibroblastic neoplasm MONDO:0006210 A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers. FHCC FLC fibrolamellar cancer fibrolamellar carcinoma fibrolamellar carcinoma of liver cells fibrolamellar carcinoma of the liver cells fibrolamellar hepatocarcinoma fibrolamellar hepatocellular carcinoma hepatocellular carcinoma, fibrolamellar hepatocellular fibrolamellar carcinoma liver cell fibrolamellar carcinoma oncocytic hepatocellular tumor polygonal cell type hepatocellular carcinoma with fibrous Stroma FL-HCC eosinophilic glassy cell hepatoma eosinophilic hepatocellular carcinoma with lamellar fibrosis fibrolamellar oncocytic hepatoma fibrolamellar variant of hepatocellular carcinoma hepatocellular carcinoma (fibrolamellar variant) hepatocellular carcinoma with increased stromal fibrosis polygonal cell hepatocellular carcinoma with fibrous stroma fibrolamellar hepatocellular carcinoma MONDO:0006211 A poorly circumscribed neoplasm arising from the soft tissues in infants. It is characterized by the presence of bland fibroblastic spindle cells, collagenous stroma formation, primitive mesenchymal round cells, and mature fat cells. These components combined form a distinct organoid pattern. fibrous hamartoma fibrous hamartoma of infancy infantile fibrous hamartoma fibrous hamartoma of infancy MONDO:0006212 A type of hyperplasia that is characterized by a marked thickening of the urinary tract epithelium. There is no evidence of cytologic atypia. -- 2003 flat urothelial hyperplasia flat urothelial hyperplasia MONDO:0006213 A mucoepidermoid carcinoma of the oral cavity that arises from the floor of the mouth. mouth floor mucoepidermoid carcinoma mucoepidermoid carcinoma of floor of mouth mucoepidermoid carcinoma of the floor of mouth floor of mouth mucoepidermoid carcinoma MONDO:0006214 A nonencapsulated variant of papillary carcinoma of the thyroid gland characterized by the predominance of follicular structures. The malignant follicular cells display the nuclear features that characterize the papillary adenocarcinomas of the thyroid gland. FVPTC follicular variant thyroid gland papillary carcinoma MONDO:0006215 A carcinoma that arises from glandular epithelial cells of the gall bladder. adenocarcinoma of gallbladder adenocarcinoma of the gallbladder gall bladder adenocarcinoma gallbladder adenocarcinoma gallbladder adenocarcinoma MONDO:0006216 A polypoid epithelial neoplasm that arises from the gallbladder. According to the neoplastic growth pattern, it is classified as tubular, tubulopapillary, or papillary. adenoma of gallbladder adenoma of the gallbladder gall bladder adenoma gallbladder adenoma gallbladder adenoma MONDO:0006217 A carcinoma that arises from the gallbladder. It is characterized by the presence of glandular and squamous malignant epithelial components. adenosquamous carcinoma of gallbladder adenosquamous carcinoma of the gallbladder adenosquamous gallbladder carcinoma gall bladder adenosquamous carcinoma gallbladder adenosquamous cancer gallbladder adenosquamous carcinoma GBASC gallbladder adenosquamous carcinoma MONDO:0006218 A neoplastic, non-invasive lesion that affects the gallbladder epithelium. It is characterized by the presence of atypical epithelial cells with an increased nuclear/cytoplasmic ratio, nuclear hyperchromasia, and loss of nuclear polarity. gallbladder BilIN gallbladder biliary intraepithelial neoplasia gallbladder dysplasia gallbladder intraepithelial neoplasia intracystic BilIN intracystic biliary intraepithelial neoplasia gallbladder biliary intraepithelial neoplasia MONDO:0006219 An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells. Oat cell carcinoma of gallbladder Oat cell carcinoma of the gallbladder gall bladder small cell carcinoma gallbladder Oat cell carcinoma gallbladder small cell NEC gallbladder small cell carcinoma gallbladder small cell neuroendocrine carcinoma small cell carcinoma of gall bladder small cell carcinoma of gallbladder small cell carcinoma of the gallbladder gallbladder small cell neuroendocrine carcinoma MONDO:0006220 A carcinoma that arises from the gallbladder. It is composed entirely by malignant squamous epithelial cells. epidermoid carcinoma of gallbladder epidermoid carcinoma of the gallbladder epidermoid gallbladder carcinoma gall bladder squamous cell carcinoma gallbladder squamous cell cancer gallbladder squamous cell carcinoma squamous cell carcinoma of gallbladder squamous cell carcinoma of the gallbladder squamous cell gallbladder carcinoma gallbladder squamous cell carcinoma MONDO:0006221 A neoplastic polyp that arises from the stomach. This category includes intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps. adenoma of stomach adenoma of the stomach gastric adenoma stomach adenoma gastric adenoma MONDO:0006222 A malignant germ cell tumor that arises from the stomach. It is characterized by the presence of syncytiotrophoblast and cytotrophoblast cellular components. It is often associated with lymph node and hematogenous metastases. gastric choriocarcinoma gastric choriocarcinoma MONDO:0006223 An extranodal diffuse large B-cell lymphoma that arises from the stomach with the bulk of the mass located in the stomach. gastric diffuse large B-cell lymphoma primary diffuse large B-cell gastric lymphoma primary diffuse large B-cell lymphoma of stomach primary diffuse large B-cell lymphoma of the stomach primary gastric diffuse large B-cell lymphoma gastric diffuse large B-cell lymphoma MONDO:0006224 A non-neoplastic polyp that arises from the stomach and is characterized by the presence of connective tissue stroma overgrowth and cystic formations. gastric hamartomatous polyp hamartoma of stomach hamartoma of the stomach stomach hamartoma (disease) gastric hamartomatous polyp MONDO:0006225 A mantle cell lymphoma that affects the stomach. It may arise as a solitary mass or it may be a component of multifocal lymphomatous polyposis of the gastrointestinal tract. It usually has an aggressive clinical course. gastric mantle cell lymphoma mantle cell lymphoma of stomach mantle cell lymphoma of the stomach stomach mantle cell lymphoma gastric mantle cell lymphoma MONDO:0006226 A low grade, indolent B-cell lymphoma, usually associated with Helicobacter pylori infection. Morphologically it is characterized by a dense mucosal atypical lymphocytic (centrocyte-like cell) infiltrate with often prominent lymphoepithelial lesions and plasmacytic differentiation. Approximately 40% of gastric MALT lymphomas carry the t(11;18)(q21;q21). Such cases are resistant to Helicobacter pylori therapy. MALT lymphoma of stomach MALT lymphoma of the stomach MALToma of stomach MALToma of the stomach gastric MALT lymphoma gastric MALToma gastric mucosa-associated lymphoid tissue lymphoma primary MALT lymphoma of stomach primary MALT lymphoma of the stomach primary gastric B-cell MALT lymphoma primary gastric MALT lymphoma stomach MALT lymphoma gastric mucosa-associated lymphoid tissue lymphoma MONDO:0006227 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the stomach. The vast majority of cases arise from the corpus-fundus region. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. It may be associated with autoimmune chronic atrophic gastritis, multiple endocrine neoplasia type 1, or it may be sporadic. gastric ECL cell NET gastric ECL cell NET G1 gastric ECL cell, histamine-producing NET gastric ECL-cell carcinoid tumor gastric NET G1 gastric carcinoid tumor gastric enterochromaffin-like cell carcinoid tumor gastric enterochromaffin-like cell neuroendocrine tumor grade 1 neuroendocrine neoplasm of stomach stomach NET G1 stomach carcinoid tumor stomach neuroendocrine neoplasm G1 stomach neuroendocrine tumor, well differentiated, low grade gastric neuroendocrine tumor G1 MONDO:0006228 A variant of gastric adenocarcinoma with exophytic growth and elongated finger-like processes lined by cylindrical or cuboidal cells supported by fibrovascular connective tissue cores. gastric papillary adenocarcinoma papillary adenocarcinoma of stomach papillary adenocarcinoma of the stomach stomach papillary adenocarcinoma papillary stomach adenocarcinoma gastric papillary adenocarcinoma MONDO:0006229 An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. It is characterized by the presence of malignant small cells. Oat cell carcinoma of stomach Oat cell carcinoma of the stomach gastric Oat cell carcinoma gastric small cell carcinoma gastric small cell neuroendocrine carcinoma small cell carcinoma of stomach small cell carcinoma of the stomach stomach small cell carcinoma STSC gastric small cell neuroendocrine carcinoma MONDO:0006230 A rare carcinoma of the stomach resembling squamous cell carcinomas arising elsewhere in the body. gastric (stomach) squamous cell cancer gastric squamous cell carcinoma squamous cell carcinoma of stomach squamous cell carcinoma of the stomach stomach squamous cell carcinoma gastric squamous cell carcinoma MONDO:0006231 A non-neoplastic, hamartomatous polyp that arises from the stomach, small intestine, and large intestine. This group includes the juvenile polyps and Peutz-Jeghers polyps. gastrointestinal hamartoma gastrointestinal hamartoma MONDO:0006232 A painless, well circumscribed tumor arising in soft tissue, usually of the upper and lower extremities. Morphologically, it is characterized by a multinodular growth pattern. The cellular infiltrate is composed of mononuclear round or oval cells and multinucleated osteoclast-like giant cells, in a rich vascular stroma. It rarely metastasizes. GCT-ST Osteoclastoma of soft tissue giant cell tumor of soft tissue giant cell tumor of soft tissue MONDO:0006233 A teratoma that arises from the testis or ovary. gonadal teratoma teratoma, gonads gonadal teratoma MONDO:0006234 High grade prostatic intraepithelial neoplasia characterized by the presence of severe architectural and cytologic abnormalities. adenocarcinoma in situ of prostate adenocarcinoma in situ of the prostate carcinoma in situ of prostate carcinoma in situ of prostate gland grade 3 pin grade 3 prostatic intraepithelial neoplasia grade III pin pin III prostate adenocarcinoma in situ prostate carcinoma in situ prostate gland carcinoma in situ prostate gland in situ carcinoma stage 0 prostate gland carcinoma grade III prostatic intraepithelial neoplasia MONDO:0006235 An unusual benign or malignant neoplasm characterized by the presence of neoplastic large polygonal cells with granular, eosinophilic cytoplasm which contains abundant lysosomes. It was originally thought to be a tumor originating from muscle cells and was named granular cell myoblastoma. Subsequent studies have suggested a derivation from Schwann cells. It affects females more often than males and it usually presents as a solitary mass. A minority of patients have multiple tumors. It can arise from many anatomic sites including the posterior pituitary gland, skin, oral cavity, esophagus, stomach, heart, mediastinum, and breast. Abrikossoff tumor Abrikossoff's tumor granular cell myoblastoma granular cell neoplasm granular cell nerve sheath tumor granular cell schwannoma granular cell tumor granular cell tumor (morphologic abnormality) granular cell tumor NOS (morphologic abnormality) neoplasm of granular cell Abrikosoff's granulous cell tumor Abrikosoff's tumor Abrikosov's tumor Abrikosov’s tumor GCT giant granulocellular Abrikosov's tumor malignant variant of Abrikosov's tumor Editor note: MESH considers this a myoblastoma but we go with NCIT which states nerve sheath origin, consistent with GARD definition; also check ONCOTREE placement granular cell tumor https://rarediseases.info.nih.gov/diseases/9618/granular-cell-tumor MONDO:0006237 A tumor mass composed of myeloblasts, neutrophils and neutrophil precursors. Granulocytic sarcoma is the most common type of myeloid sarcoma. (WHO, 2001) granulocytic sarcoma sarcoma, granulocytic, malignant granulocytic sarcoma MONDO:0006238 An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly. GH cell adenoma Somatotrophinoma growth hormone producing adenoma of pituitary growth hormone producing adenoma of pituitary gland growth hormone producing adenoma of the pituitary growth hormone producing adenoma of the pituitary gland growth hormone producing pituitary adenoma growth hormone producing pituitary gland adenoma growth hormone secreting adenoma of pituitary growth hormone secreting adenoma of pituitary gland growth hormone secreting adenoma of the pituitary growth hormone secreting adenoma of the pituitary gland growth hormone secreting pituitary adenoma growth hormone secreting pituitary gland adenoma growth hormone-producing adenoma growth hormone-producing pituitary gland adenoma somatotrope adenoma somatotroph adenoma somatotropic adenoma growth hormone-producing pituitary gland adenoma MONDO:0006239 A benign or malignant extra-adrenal paraganglioma arising from paraganglia in the head and neck. Representative examples include the carotid body and jugulotympanic paragangliomas. craniocervical region paraganglioma head and neck paraganglioma paraganglioma of craniocervical region paraganglioma of head and neck paraganglioma of the head and neck head and neck paraganglioma MONDO:0006241 A granuloma located in the liver. Editor note: check neoplasm classification hepatic granuloma MONDO:0006243 An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver. hepatoid adenocarcinoma hepatoid carcinoma hepatoid adenocarcinoma MONDO:0006244 A biologic subset of breast carcinoma defined by high expression of HER2, GRB7, and TRAP100, and by lack of expression of estrogen receptor (ER). ERBB2 Overexpressing subtype of breast carcinoma HER2 Overexpressing breast carcinoma HER2 Overexpressing subtype of breast carcinoma HER2 Positive breast cancer HER2 positive breast carcinoma Her2-receptor positive breast cancer HER2 positive breast carcinoma MONDO:0006245 A carcinoma with apocrine and less often eccrine differentiation, arising from the sweat glands. It usually presents as a solitary slow growing nodule in the dermis or subcutaneous tissues. It is characterized by a nodular growth pattern and it is often associated with necrotic changes. clear cell eccrine carcinoma hidradenocarcinoma hidradenocarcinoma MONDO:0006246 A usually aggressive high grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. high grade surface osteosarcoma high-grade surface osteosarcoma high grade surface osteosarcoma MONDO:0006247 Rare tumors that affect the hematopoietic and lymphoid tissues. The cells of origin are the histiocytes and accessory cells. They can occur at any age and show no significant variations in geographical distribution. This category includes the histiocytic sarcoma, Langerhans cell histiocytosis, Langerhans cell sarcoma, interdigitading dendritic cell sarcoma/tumor, follicular dendritic cell sarcoma/tumor, and dendritic cell sarcoma, not otherwise specified. (WHO, 2001) histiocytic and Dendritic cell neoplasms histiocytic and Dendritic cell tumors histiocytic and dendritic cell neoplasm histiocytic and dendritic cell histiocytic and dendritic cell cancer histiocytic and dendritic cell tumor histiocytic and dendritic cell neoplasm MONDO:0006248 A gestational trophoblastic disorder characterized by marked enlargement of the chorionic villi, hyperplasia of the villous trophoblastic cells and hydropic changes. https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/78 https://github.com/monarch-initiative/mondo/issues/1611 hydatid mole hydatidiform mole molar pregnancy HYDM hydatidiform mole, recurrent hydatidiform mole MONDO:0006249 A polyp found mainly in the stomach and colon. Microscopically, it is characterized by elongated, serrated crypts lined by proliferative epithelium. Hyperplastic polyps are traditionally considered non-neoplastic, but ras mutation is common, clonality has been demonstrated and biochemical abnormalities and epidemiological associations that occur in colorectal adenomas and carcinomas have been found (WHO Tumors of the Digestive System, 2000). HP MP metaplastic polyp hyperplastic polyp MONDO:0006250 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ileum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. carcinoid tumor of ileum carcinoid tumor of the ileum grade 1 neuroendocrine neoplasm of ileum ileal NET G1 ileal carcinoid tumor ileal neuroendocrine tumor G1 ileum NET G1 ileum carcinoid tumor ileum carcinoid tumor (disease) ileum neuroendocrine neoplasm G1 ileum neuroendocrine tumor, well differentiated, low grade ileal neuroendocrine tumor G1 MONDO:0006254 An adenocarcinoma arising from epithelium which has undergone intestinal metaplasia. Representative examples include gastric, gallbladder, and ampulla of Vater intestinal type adenocarcinomas. intestinal type carcinoma intestinal-type adenocarcinoma intestinal type adenocarcinoma MONDO:0006255 A malignant neoplasm arising from the large blood vessels. It is characterized by the presence of tumor cells that grow within the lumen of the blood vessels. The intraluminal tumor growth may result in vascular obstruction and spread of tumor emboli to peripheral organs. The prognosis is usually poor. INTS intimal sarcoma MONDO:0006256 A carcinoma that infiltrates the breast parenchyma. The vast majority are adenocarcinomas arising from the terminal ductal lobular unit (TDLU). Often, the invasive adenocarcinoma co-exists with ductal or lobular carcinoma in situ. It is the most common carcinoma affecting women. infiltrating breast cancer infiltrating breast carcinoma infiltrating carcinoma of breast infiltrating carcinoma of the breast invasive breast cancer invasive breast carcinoma invasive carcinoma of breast invasive carcinoma of the breast invasive mammary carcinoma BRCA invasive breast carcinoma MONDO:0006257 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the jejunum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. carcinoid tumor of jejunum carcinoid tumor of the jejunum grade 1 neuroendocrine neoplasm of jejunum jejunal NET G1 jejunal carcinoid tumor jejunum NET G1 jejunum carcinoid tumor jejunum carcinoid tumor (disease) jejunum neuroendocrine neoplasm G1 jejunum neuroendocrine tumor, well differentiated, low grade jejunal neuroendocrine tumor G1 MONDO:0006258 A non-neoplastic hamartomatous polyp that arises from the stomach and intestinal tract. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation. juvenile polyp retention polyp juvenile polyp MONDO:0006260 A type of renal carcinoma affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis. carcinoma of renal medulla kidney medullary carcinoma renal medulla carcinoma renal medullary carcinoma kidney medullary carcinoma MONDO:0006262 A adenoid cystic carcinoma that involves the lacrimal gland. adenoid cystic carcinoma of lacrimal gland adenoid cystic carcinoma of the lacrimal gland lacrimal gland adenoid cystic carcinoma lacrimal gland adenoid cystic carcinoma MONDO:0006264 A rare adenoid cystic carcinoma of the larynx. It usually arises from the supraglottic or subglottic area. It is characterized by slow progression and late distant metastases. adenoid cystic carcinoma of larynx adenoid cystic carcinoma of the larynx laryngeal adenoid cystic carcinoma laryngeal throat adenoid cystic cancer laryngeal adenoid cystic carcinoma MONDO:0006265 A rare carcinoma that arises from the larynx. It is characterized by the presence of small neuroendocrine cells. It metastasizes early and has an aggressive clinical course. laryngeal small cell carcinoma laryngeal throat small cell cancer larynx small cell carcinoma small cell carcinoma of larynx small cell carcinoma of the larynx laryngeal small cell carcinoma MONDO:0006266 A sex cord-stromal tumor occurring in the testis and rarely in the ovary. It is predominantly or completely composed of Leydig cells which may contain crystals of Reinke. In males it usually presents as a painless testicular enlargement and it may be associated with gynecomastia and decreased libido. The majority of the cases have a benign clinical course. Approximately 10% of the cases have a malignant clinical course and metastasize. In females it may be associated with androgenic manifestations and it follows a benign clinical course. Leydig cell neoplasm Leydig cell tumor interstitial cell neoplasm interstitial cell tumor Leydig cell tumor, undetermined Editor notes: Adding an axiom to this to localize to leydig cell entails equivalence with testicular leydig cell tumor Leydig cell tumor MONDO:0006267 A hemangioma with cavernous vascular spaces arising from the liver. It is the most frequent benign tumor of the liver and usually affects young females. cavernous hemangioma of liver liver cavernous hemangioma liver cavernous hemangioma MONDO:0006268 A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver. diffuse large B-cell lymphoma of liver hepatic diffuse large B-cell lymphoma liver diffuse large B-cell lymphoma primary hepatic diffuse large B-cell lymphoma primary liver diffuse large B-cell lymphoma liver diffuse large B-cell lymphoma MONDO:0006270 A non-invasive adenocarcinoma of the breast characterized by a proliferation of monomorphic cells completely filling the lumina. The overall lobular architecture is preserved. It is frequently multifocal (90% in some series) and bilateral. It seldom becomes invasive; however there is an increased risk of infiltrating ductal adenocarcinoma. LCIS lobular Ca in situ of breast lobular Ca in situ of the breast lobular breast carcinoma in situ lobular carcinoma in situ lobular carcinoma in situ (LCIS) lobular carcinoma in situ of breast lobular carcinoma in situ of the breast lobular carcinoma in situ of the breast (LCIS) non-infiltrating lobular breast carcinoma non-infiltrating lobular carcinoma non-infiltrating lobular carcinoma of breast non-infiltrating lobular carcinoma of the breast non-invasive lobular breast carcinoma non-invasive lobular carcinoma of breast non-invasive lobular carcinoma of the breast breast lobular carcinoma in situ lobular breast carcinoma in situ MONDO:0006271 A low grade osteosarcoma arising from the medullary portion of the bone. It affects the long bones and is characterized by the presence of fibroblastic stroma and osteoid production. Pain and swelling are the usual sign and symptom. The prognosis is more favorable than conventional osteosarcoma. intraosseous well-differentiated osteogenic sarcoma intraosseous well-differentiated osteosarcoma low grade central osteosarcoma low grade intramedullary osteosarcoma low-grade intramedullary osteosarcoma low-grade central osteosarcoma low grade central osteosarcoma MONDO:0006272 A low grade, late-metastasizing variant of fibrosarcoma characterized by alternating fibrous and myxoid areas and a whorling growth pattern. The neoplastic cells have a spindle morphology, and lack hyperchromasia or significant nuclear atypia. Approximately 40% of cases show the focal presence of collagen rosettes. A t(7;16)(q33;p11) translocation has been identified in the majority of cases, associated with the presence of FUS-CREB3L2 fusion protein. Rare cases carry the t(11;16)(p11;p11) translocation which is associated with the presence of the FUS-CREB3L1 fusion protein. low grade fibromyxoid sarcoma low-grade fibromyxoid sarcoma low grade fibromyxoid sarcoma MONDO:0006273 A low grade fibromyxoid sarcoma characterized by the presence of prominent collagen rosettes. hyalinizing spindle cell tumor with giant Rosettes low grade fibromyxoid sarcoma with giant collagen rosettes MONDO:0006274 An intraepithelial lesion of the vulvar squamous epithelium that represents the clinical and morphological manifestation of a productive HPV infection. Low grade refers to the associated low risk of concurrent or future cancer. (WHO, 2014) VIN 1 VIN 1 of usual type VIN grade 1 grade 1 VIN grade 1 vulvar intraepithelial neoplasia grade I VIN grade I vulvar intraepithelial neoplasia intraepithelial neoplasia of the vulva grade 1 intraepithelial neoplasia of vulva grade 1 low grade VIN vulva intraepithelial neoplasia grade 1 vulvar Low grade squamous intraepithelial lesion vulvar Low-grade squamous intraepithelial lesion vulvar flat condyloma vulvar intraepithelial neoplasia 1 of usual type vulvar intraepithelial neoplasia grade 1 vulvar mild squamous dysplasia low grade vulvar intraepithelial neoplasia MONDO:0006275 A morphologic variant of lung sarcomatoid carcinoma characterized by the presence of mononuclear and multinucleated pleomorphic neoplastic giant cells that lack cohesion. giant cell carcinoma giant cell carcinoma of lung giant cell carcinoma of the lung giant cell lung carcinoma lung giant cell carcinoma GCLC lung giant cell carcinoma MONDO:0006276 An intermediate fibroblastic neoplasm arising from the lung. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells. lung inflammatory myofibroblastic tumor inflammatory myofibroblastic lung tumor lung inflammatory myofibroblastic tumor MONDO:0006277 Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course. https://github.com/monarch-initiative/mondo/issues/4016 https://github.com/monarch-initiative/mondo/issues/5537 lung lymphangioleiomyomatosis lung lymphangiomyomatosis pulmonary lymphangioleiomyomatosis lymphangioleiomyomatosis pulmonary lymphangiomyomatosis lung lymphangioleiomyomatosis MONDO:0006278 A benign papillary neoplasm that arises endobronchially. It is classified as squamous cell, glandular, or mixed squamous cell and glandular papilloma. Patients usually present with signs and symptoms of bronchial obstruction. lung papilloma papilloma of respiratory tract papilloma of the respiratory tract respiratory tract papilloma lung papilloma MONDO:0006279 A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor. lung sarcomatoid carcinoma sarcomatoid carcinoma of the lung lung sarcomatoid carcinoma MONDO:0006280 A benign tumor that arises from the lung. It is characterized by the presence of sclerotic, papillary, solid, and hemorrhagic patterns and hyperplastic type II pneumocytes. Cholesterol clefts, hemosiderin deposition, chronic inflammation, and calcifications may be present. In the majority of cases, it is a solitary and peripheral tumor. Patients are usually asymptomatic. Pneumocytoma lung sclerosing angioma lung sclerosing hemangioma sclerosing Pneumocytoma sclerosing angioma of lung sclerosing angioma of the lung sclerosing haemangioma sclerosing hemangioma sclerosing hemangioma of lung sclerosing hemangioma of the lung pulmonary sclerosing hemangioma Editor note: we believe the two disease ontology (DO) classes are equivalent. lung sclerosing hemangioma MONDO:0006281 A morphologic variant of lung adenocarcinoma characterized by the presence of signet ring cells. lung signet ring cell carcinoma signet ring lung adenocarcinoma lung signet ring cell carcinoma MONDO:0006282 A malignant neoplasm arising from the endothelial cells of the lymphatic vessels. Stewart-Treves syndrome lymphangioendothelial sarcoma lymphangiosarcoma lymphangiosarcoma, malignant malignant lymphangioendothelioma lymphangiosarcoma of Stewart and Treves lymphangiosarcoma MONDO:0006283 A morphologic variant of large cell lung carcinoma characterized by the presence of a syncytial growth pattern, large vesicular nuclei with esophnophilic nucleoi, and dense lymphoplasmacytic infiltration. lymphoepithelioma-like carcinoma of the lung lymphoepithelioma-like lung carcinoma MONDO:0006284 A carcinoma that arises from the parotid gland, submandibular gland, or sublingual gland. major salivary gland cancer carcinoma of Major salivary gland carcinoma of major salivary gland carcinoma of the major salivary gland major salivary gland carcinoma major salivary gland carcinoma MONDO:0006285 A carcinoma that arises from a pleomorphic adenoma in the major salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive. carcinoma ex pleomorphic adenoma of Major salivary gland carcinoma ex pleomorphic adenoma of the Major salivary gland major salivary gland carcinoma ex pleomorphic adenoma major salivary gland salivary gland carcinoma ex pleomorphic adenoma major salivary gland carcinoma ex pleomorphic adenoma MONDO:0006286 A carcinoma that arises from the major salivary glands. It usually arises from the parotid gland. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome. major salivary gland mucoepidermoid cancer major salivary gland mucoepidermoid carcinoma mucoepidermoid carcinoma of Major salivary gland mucoepidermoid carcinoma of the Major salivary gland major salivary gland mucoepidermoid carcinoma MONDO:0006287 A malignant tumor that arises from the bone. It is characterized by the presence of an area of high grade sarcoma in an otherwise typical giant cell tumor (primary malignancy in giant cell tumor), or the presence of sarcoma in which the pre-existing giant cell tumor may or may not be apparent (secondary malignancy in giant cell tumor). Dedifferentiated giant cell tumor OSTEOCLASTOMA, malignant bone giant cell sarcoma giant cell bone sarcoma giant cell sarcoma of bone giant cell sarcoma of the bone giant cell tumor of bone, malignant giant cell tumor of bone, malignant (morphologic abnormality) malignancy in giant cell tumor of bone malignancy in giant cell tumor of the bone malignant giant cell tumor of bone malignancy in giant cell tumor of bone MONDO:0006288 A pheochromocytoma that metastasizes to other anatomic sites. Common sites of metastasis include lymph nodes, bones, liver, and lung. Morphologic features associated with malignant pheochromocytomas include: atypical mitotic figures, capsular and vascular invasion, tumor cell necrosis, and high mitotic activity. adrenal gland pheochromocytoma, malignant malignant adrenal gland Chromaffinoma malignant adrenal gland chromaffin neoplasm malignant adrenal gland chromaffin paraganglioma malignant adrenal gland chromaffin tumor malignant adrenal gland paraganglioma malignant adrenal gland pheochromocytoma malignant adrenal medullary paraganglioma malignant adrenal medullary pheochromocytoma malignant adrenal pheochromocytoma malignant pheochromocytoma pheochromoblastoma pheochromocytoma, malignant malignant adrenal gland pheochromocytoma MONDO:0006290 A gonadal or extragonadal malignant neoplasm that arises from germ cells. Representative examples include embryonal carcinoma, yolk sac tumor, and seminoma. cancer of germ cell germ cell cancer germ cell tumor, malignant malignant germ cell neoplasm malignant germ cell tumor malignant neoplasm of germ cell malignant neoplasm of the germ cell malignant tumor of germ cell malignant tumor of the germ cell malignant germ cell tumor MONDO:0006291 A jugulotympanic paraganglioma that metastasizes to other anatomic sites. cancer of jugular body jugular body cancer malignant glomus jugulare neoplasm malignant glomus jugulare tumor malignant jugular body neoplasm malignant jugulotympanic paraganglioma malignant neoplasm of glomus jugulare malignant neoplasm of jugular body malignant neoplasm of the glomus jugulare malignant tumor of glomus jugulare malignant tumor of the glomus jugulare malignant jugulotympanic paraganglioma MONDO:0006292 A malignant neoplasm of the pleura or peritoneum, arising from mesothelial cells. It is associated with exposure to asbestos. https://github.com/monarch-initiative/mondo/issues/4521 malignant mesothelioma (disease) malignant mesothelial tumor malignant mesothelioma malignant mesothelioma (disease) malignant neoplasm of mesothelium malignant neoplasm of the mesothelium malignant tumor of mesothelium malignant tumor of the mesothelium mesothelioma, malignant mesothelioma, somatic advanced malignant mesothelioma asbestos-related malignant mesothelioma diffuse malignant mesothelioma malignant mesothelial neoplasm MESOM malignant mesothelioma MONDO:0006294 A primary or metastatic malignant neoplasm affecting the pleura. A representative example of primary malignant pleural neoplasm is the malignant pleural mesothelioma. A representative example of metastatic malignant neoplasm to the pleura is metastatic carcinoma that has spread to the pleura from another anatomic site. neoplasm of pleura pleural tumor cancer of pleura cancer of the pleura malignant neoplasm of pleura malignant neoplasm of the pleura malignant pleura neoplasm malignant pleural neoplasm malignant pleural tumor malignant tumor of pleura malignant tumor of the pleura pleura cancer pleural cancer pleural cancer MONDO:0006295 A primary or metastatic malignant tumor involving the urinary system. Common tumor types include carcinomas, lymphomas, and sarcomas. cancer of renal system malignant neoplasm of renal system malignant renal system neoplasm malignant urinary system neoplasm malignant urinary tract neoplasm renal system cancer urinary system cancer malignant urinary system neoplasm MONDO:0006297 An adenoid cystic carcinoma that arises from the maxillary sinus. It usually has an aggressive clinical course. adenoid cystic carcinoma of the maxillary sinus maxillary sinus adenoid cystic carcinoma adenoid cystic carcinoma of maxillary sinus maxillary sinus adenoid cystic carcinoma MONDO:0006298 An extragonadal malignant germ cell tumor that arises from the mediastinum. This category includes seminoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, mixed germ cell tumors, and immature malignant teratoma. malignant mediastinal germ cell tumor mediastinal germ cell tumor, malignant mediastinal malignant germ cell tumor thymic malignant germ cell tumor malignant germ cell neoplasm of mediastinum malignant germ cell neoplasm of the mediastinum malignant germ cell tumor of mediastinum malignant germ cell tumor of the mediastinum malignant mediastinal germ cell neoplasm mediastinal malignant germ cell tumor MONDO:0006300 A rare malignant embryonal neoplasm arising from the cerebellum. It is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. Its clinical behavior is similar to medulloblastoma. medullomyoblastoma medullomyoblastoma with myogenic differentiation MMB medullomyoblastoma with myogenic differentiation MONDO:0006301 A benign, well-circumscribed renal cortical neoplasm affecting females more often than males. Polycythemia has been reported in twelve-percent of patients. metanephric adenoma metanephric adenoma (morphologic abnormality) metanephric adenoma MONDO:0006302 An adenocarcinoma characterized by the presence of complex micropapillary structures covered by round and cuboidal cells with a high nuclear to cytoplasmic ratio. micropapillary serous carcinoma MONDO:0006303 A rare squamous cell carcinoma that arises from the middle ear. epidermoid carcinoma of middle Ear epidermoid carcinoma of the middle Ear epidermoid carcinoma of the middle ear middle Ear epidermoid carcinoma middle ear squamous cell carcinoma squamous cell carcinoma of middle Ear squamous cell carcinoma of the middle Ear squamous cell carcinoma of middle ear middle ear squamous cell carcinoma MONDO:0006304 An adenocarcinoma that arises from the minor salivary glands. adenocarcinoma of minor salivary gland adenocarcinoma of the minor salivary gland minor salivary gland adenocarcinoma MONDO:0006306 A breast carcinoma characterized by the presence of a lobular and a ductal component. The ductal component comprises less than 50 percent of the tumor. ductal and lobular carcinoma mixed ductal and lobular breast carcinoma mixed ductal and lobular carcinoma of breast mixed ductal and lobular carcinoma of the breast mixed lobular and ductal breast carcinoma mixed lobular and ductal carcinoma mixed lobular and ductal carcinoma of breast mixed lobular and ductal carcinoma of the breast breast mixed ductal and lobular carcinoma mixed lobular and ductal breast carcinoma MONDO:0006307 An infrequent pituitary gland adenoma composed of an admixture of acidophilic and chromophobic cells that produce growth hormone and prolactin respectively. Unlike mammosomatotroph adenomas, these two hormones are not localized in the same cell by immunohistochemistry. Mixed somatotroph and lactotroph adenoma mixed GH-PRL cell adenoma mixed Somatolactotrope adenoma mixed somatotroph-lactotroph adenoma mixed somatotroph-lactotroph pituitary gland adenoma mixed somatotroph-lactotroph pituitary gland adenoma MONDO:0006309 A variant of gastric adenocarcinoma with more than half of the tumor containing extracellular mucinous pools. mucinous adenocarcinoma of stomach mucinous adenocarcinoma of the stomach mucinous gastric adenocarcinoma mucinous stomach adenocarcinoma stomach mucinous adenocarcinoma MSTAD mucinous gastric adenocarcinoma MONDO:0006311 A category of clonal hematopoietic disorders that have both myelodysplastic and myeloproliferative features at the time of initial presentation. MDS-MPD MDS/MPD myelodysplastic myeloproliferative disease myelodysplastic/myeloproliferative disease myelodysplastic/myeloproliferative diseases myelodysplastic/myeloproliferative disorder myelodysplastic/myeloproliferative disorders myeloproliferative/myelodysplastic disorders myeloproliferative/myelodysplastic syndromes MDS/MPN MPD-MDS MPD/MDS myelodysplastic myeloproliferative cancer myelodysplastic/myeloproliferative neoplasm myelodysplastic/myeloproliferative neoplasms myelodysplastic/myeloproliferative neoplasm MONDO:0006312 A benign, localized, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma. lipoleiomyoma myofibroma myofibroma (morphologic abnormality) infantile hemangiopericytoma myofibroma MONDO:0006313 A benign, mucus-filled cervical cyst that occurs when mucus-secreting columnar epithelial cells are covered with squamous epithelium. Editor note: check this nabothian cyst MONDO:0006314 A soft and painless polypoid mass that arises from the mucosa in the nasal cavity. It is usually the result of an inflammatory process. It may recur following surgical resection. nasal cavity polyp nasal polyp polyp of nasal cavity polyp of the nasal cavity nasal cavity polyp MONDO:0006316 A group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells. neuroblastic tumor neuroblastic tumor MONDO:0006317 A benign neoplasm arising from nerve sheaths. It is characterized by the presence of a myxoid stroma. nerve sheath Myxoma neurothekeoma neurothekeoma MONDO:0006320 Melanoma is a malignant tumor of melanocytes, cells that are derived from the neural crest. Although most melanomas arise in the skin, they also may arise from mucosal surfaces or at other sites to which neural crest cells migrate. (PDQ) extracutaneous melanoma non-cutaneous melanoma non-cutaneous melanoma MONDO:0006321 An adenoma of the adrenal cortex characterized by the absence of a hormonal syndrome or symptoms suggestive of adrenal disease. adrenal cortex non-functioning endocrine neoplasm adrenal cortical incidentaloma non-functioning adrenal cortex adenoma non-functioning adrenal cortical adenoma non-functioning endocrine neoplasm of adrenal cortex nonfunctional adrenal cortex adenoma non-functioning adrenal cortex adenoma MONDO:0006322 A non-neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts. Representative examples include cholangitis and biliary atresia. non-neoplastic bile duct disorder non-neoplastic bile duct disorder MONDO:0006323 A group of testicular cancers that begin in the germ cells (cells that give rise to sperm). Nonseminomas are identified by the type of cell in which they begin and include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac carcinoma. non-seminomatous lesion MONDO:0006324 A biologic subset of breast carcinoma defined by high expression of many genes expressed by adipose and other non-epithelial tissues. normal breast-like subtype of breast cancer normal breast-like subtype of breast carcinoma normal breast-like subtype of breast carcinoma MONDO:0006325 A melanoma that arises from the structures of the eye or ocular adnexa. eye melanoma eye melanoma (disease) eyeball of camera-type eye melanoma eyeball of camera-type eye melanoma (disease) melanoma (disease) of eyeball of camera-type eye melanoma of eye melanoma of the eye ocular melanoma OM ocular melanoma MONDO:0006326 A melanoma arising from and extending beyond the structures of the eye. extraocular extension melanoma extraocular extension of melanoma ocular melanoma with extraocular extension ocular melanoma with extraocular extension MONDO:0006327 Ocular sebaceous carcinoma is a rare condition and accounts for 1% to 5.5% of eyelid malignancies and is the third most common eyelid malignancy after basal cell and squamous cell carcinoma. It usually affects elderly women, has a high rate of local recurrence, and a tendency to regional and distant metastases. eye sebaceous carcinoma ocular sebaceous carcinoma ocular sebaceous carcinoma MONDO:0006328 A cyst in the jaw that arises from tissues of tooth development. odontogenic cyst MONDO:0006329 An olfactory neuroblastoma arising in the paranasal sinus. Asthesioneuroblastoma Asthesioneuroblastoma (morphologic abnormality) olfactory esthesioneuroblastoma olfactory neuroblastoma olfactory neuroepithelioma paranasal sinus olfactory neuroblastoma Esthesioneuroepithelioma Esthesioneuroepithelioma (morphologic abnormality) Esthesioneuroepithelioma [dup] (morphologic abnormality) esthesioneuroblastoma esthesioneuroblastoma (morphologic abnormality) olfactory neuroblastoma MONDO:0006330 A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. The lesions are associated with the formation of metaplastic bone. Most patients present with painless subcutaneous masses. Recurrences have been reported in a minority of patients. OFMT ossifying fibromyxoid neoplasm ossifying fibromyxoid tumor (morphologic abnormality) ossifying fibromyxoma ossifying fibromyxoid tumor MONDO:0006335 An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma. endometrioid adenocarcinoma of ovary endometrioid adenocarcinoma of the ovary endometrioid cancer of ovary endometrioid cancer of the ovary endometrioid carcinoma of ovary endometrioid carcinoma of the ovary endometrioid carcinoma ovary endometrioid ovary carcinoma endometrium adenocarcinoma of ovary ovarian endometrioid adenocarcinoma ovarian endometrioid cancer ovarian endometrioid carcinoma ovary endometrium adenocarcinoma endometrioid ovarian cancer ovarian endometrioid adenocarcinoma MONDO:0006336 An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance. ovarian adenoacanthoma ovarian adenosquamous carcinoma ovarian endometrioid adenocarcinoma with squamous differentiation ovarian endometrioid adenocarcinoma with squamous differentiation MONDO:0006337 A non-neoplastic disorder characterized by the growth of endometrial tissue in the ovaries. It results in the development of blood filled ovarian cysts (chocolate cysts), and creation of scars and adhesions. endometriosis (disease) of ovary endometriosis of ovary ovarian endometriosis ovary endometriosis (disease) ovarian endometriosis MONDO:0006339 A benign, unilateral tumor that arises from the ovary and is characterized by the presence of conspicuous microcystic changes, cellular areas, and a fibrous stroma. MCST microcystic stromal tumor ovarian microcystic stromal tumor MONDO:0006340 A benign neoplasm of the ovary characterized by the presence of glands with serous epithelial cells in a fibrotic stroma. ovarian serous adenofibroma ovary serous adenofibroma serous adenofibroma of ovary ovarian serous adenofibroma MONDO:0006343 A carcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that resemble malignant urothelial cells. There is no morphologic evidence of a benign or borderline Brenner tumor component present. malignant ovarian transitional cell neoplasm ovarian transitional cell cancer ovarian transitional cell carcinoma ovary transitional cell carcinoma transitional cell carcinoma of ovary transitional cell carcinoma of the ovary ovarian transitional cell neoplasm ovarian transitional cell carcinoma MONDO:0006344 A usually rapidly growing malignant germ cell tumor arising from the ovary. It usually occurs in children and adolescents. Signs and symptoms include abdominal pain and a large abdominal or pelvic mass. The serum alpha-fetoprotein is almost always elevated preoperatively. Morphologically, there is marked heterogeneity due to numerous patterns of differentiation coexisting in the same tumor. The most common pattern is reticular. endodermal sinus neoplasm of ovary endodermal sinus neoplasm of the ovary endodermal sinus tumor of ovary endodermal sinus tumor of the ovary germ cell endodermal sinus neoplasm of ovary germ cell endodermal sinus neoplasm of the ovary germ cell endodermal sinus tumor of ovary germ cell endodermal sinus tumor of the ovary ovarian endodermal sinus neoplasm ovarian endodermal sinus tumor ovarian germ cell endodermal sinus neoplasm ovarian germ cell endodermal sinus tumor ovarian yolk Sac neoplasm ovarian yolk sac tumor ovary yolk sac tumor yolk Sac neoplasm of ovary yolk Sac neoplasm of the ovary yolk Sac tumor of ovary yolk Sac tumor of the ovary yolk sac tumor ovarian yolk sac tumor MONDO:0006345 A superficial fibromatosis arising from the soft tissue of the palm. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It predominantly affects adult males. Dupuytren contracture Dupuytren contracture (disease) palmar fibromatosis palmar part of manus fibromatosis Dupuytren's contracture palmar fibromatosis MONDO:0006346 An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis. Pancreatic acinar cell cancer acinar cell adenocarcinoma of pancreas acinar cell adenocarcinoma of the pancreas acinar cell carcinoma of pancreas acinar cell carcinoma of the pancreas carcinoma of pancreatic acinar cell pancreas acinar cell adenocarcinoma pancreatic acinar cell adenocarcinoma pancreatic acinar cell carcinoma PAAC pancreatic acinar cell carcinoma MONDO:0006347 An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant large cells. large cell neuroendocrine carcinoma of pancreas pancreas large cell neuroendocrine carcinoma pancreatic large cell NEC pancreatic large cell NEC G3 pancreatic large cell neuroendocrine carcinoma pancreatic large cell neuroendocrine carcinoma MONDO:0006348 An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant small cells. endocrine pancreas small cell carcinoma pancreatic small cell NEC pancreatic small cell NEC G3 pancreatic small cell neuroendocrine carcinoma small cell carcinoma of endocrine pancreas pancreatic small cell neuroendocrine carcinoma MONDO:0006349 A benign, malignant, or borderline neoplasm characterized by the presence of papillary mucinous, serous, or clear cell structures and cystic structures. papillary cystic neoplasm papillary cystic tumor papillary cystic neoplasm MONDO:0006350 A non-invasive or invasive transitional cell carcinoma characterized by a papillary growth pattern. It may occur in the bladder or the renal pelvis. papillary transitional carcinoma papillary transitional cell carcinoma papillary transitional cell carcinoma (morphologic abnormality) papillary transitional cell carcinoma MONDO:0006351 A rare, usually benign myoepithelial tumor characterized by the presence of epithelioid, often vacuolated neoplastic cells. Most patients present with painless swelling in the subcutaneous or subfascial soft tissues of the extremities. parachordoma parachordoma MONDO:0006352 A rare adenoid cystic carcinoma that arises from the paranasal sinuses. It usually has an aggressive clinical course characterized by high recurrence rates and distant metastases. accessory sinus adenoid cystic carcinoma adenoid cystic carcinoma of accessory sinus adenoid cystic carcinoma of paranasal sinus adenoid cystic carcinoma of the accessory sinus adenoid cystic carcinoma of the paranasal sinus paranasal sinus adenoid cystic carcinoma paranasal sinus adenoid cystic carcinoma MONDO:0006353 A papilloma that arises from the ciliated respiratory mucosa that lines the paranasal sinuses. It is classified as inverted papilloma and oncocytic papilloma. paranasal sinus Schneiderian papilloma Schneiderian papilloma of accessory sinus Schneiderian papilloma of paranasal sinus Schneiderian papilloma of the accessory sinus Schneiderian papilloma of the paranasal sinus accessory sinus Schneiderian papilloma paranasal sinus Schneiderian papilloma MONDO:0006354 A hyperplasia that involves the parathyroid gland. parathyroid hyperplasia (disease) hyperplasia of parathyroid hyperplasia of the parathyroid parathyroid gland hyperplasia parathyroid hyperplasia parathyroid hyperplasia (disease) parathyroid hyperplasia MONDO:0006355 An adenocarcinoma with serous acinar cell differentiation that arises from the parotid gland. Patients usually present with a slow growing mass in the parotid area. parotid gland acinar cell carcinoma parotid gland acinic cell carcinoma acinic cell carcinoma of parotid acinic cell carcinoma of parotid gland acinic cell carcinoma of the parotid acinic cell carcinoma of the parotid gland parotid acinic cell carcinoma parotid gland acinic cell carcinoma MONDO:0006356 An aggressive carcinoma that arises from the parotid gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues. adenoid cystic carcinoma of parotid adenoid cystic carcinoma of parotid gland adenoid cystic carcinoma of the parotid adenoid cystic carcinoma of the parotid gland parotid adenoid cystic carcinoma parotid gland adenoid cystic carcinoma parotid gland adenoid cystic carcinoma MONDO:0006357 A carcinoma that arises from a pleomorphic adenoma in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive. carcinoma ex pleomorphic adenoma of parotid carcinoma ex pleomorphic adenoma of parotid gland carcinoma ex pleomorphic adenoma of the parotid carcinoma ex pleomorphic adenoma of the parotid gland parotid carcinoma ex pleomorphic adenoma parotid gland carcinoma ex pleomorphic adenoma parotid gland carcinoma ex pleomorphic adenoma MONDO:0006358 An invasive squamous cell carcinoma that arises from the parotid gland. It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain. parotid gland squamous cell carcinoma parotid squamous cell carcinoma squamous cell carcinoma of parotid squamous cell carcinoma of parotid gland squamous cell carcinoma of the parotid squamous cell carcinoma of the parotid gland parotid gland squamous cell carcinoma MONDO:0006359 A soft tissue neoplasm composed of perivascular epithelioid cells. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis. PEComa neoplasm with perivascular epithelioid cell differentiation perivascular epithelioid cell tumor tumor with perivascular epithelioid cell differentiation MeSH defintion: A family of mesenchymal tumors composed of histologically and immunohistochemically distinctive perivascular epithelioid cells. These cells do not have a normal anatomic homolog. (From Fletcher CDM, et. al., World Health Organization Classification of Tumors: Pathology and Genetics of Tumors of Soft Tissue and Bone, 2002). neoplasm with perivascular epithelioid cell differentiation MONDO:0006360 A carcinoma that arises from epithelial cells of the penis cancer of penis cancer of the penis cancer penis penile cancer carcinoma of penis carcinoma of the penis penile carcinoma penis carcinoma penile cancer, adult penile carcinoma MONDO:0006361 Fibromatosis arising from the soft tissues of the penis. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It causes the penis to bend when it becomes erect. Peyronie's fibromatosis penile fibromatosis penile induration penis fibromatosis Peyronie's disease penile fibromatosis MONDO:0006362 A benign or malignant mesothelial neoplasm that arises from the peritoneum. peritoneal mesothelioma (disease) mesothelioma of peritoneum mesothelioma of the peritoneum peritoneal mesothelioma peritoneal mesothelioma (disease) peritoneum mesothelioma peritoneal mesothelioma MONDO:0006363 A cystic mesothelioma that arises from the peritoneum and usually affects young to middle aged females. Grossly, it presents as a large multiloculated tumor mass, usually in the pelvic peritoneum. Histologically it is characterized by the presence of multiple cysts that are lined by one or more layers of mesothelial cells that do not show atypia. Patients usually present with abdominal or pelvic mass and pain. The clinical course is indolent. The tumor may recur, but transformation to diffuse malignant mesothelioma is rare. multicystic mesothelioma multicystic mesothelioma of peritoneum multicystic mesothelioma of the peritoneum multilocular peritoneal inclusion cyst peritoneal cystic mesothelioma peritoneal multicystic mesothelioma benign multicystic peritoneal mesothelioma BMPM benign cystic peritoneal mesothelioma multilocular peritoneal cysts multilocular peritoneal inclusion cysts peritoneal multicystic mesothelioma MONDO:0006364 A localized or multifocal mesothelioma arising from the peritoneum. It predominantly occurs in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to diffuse malignant mesothelioma. peritoneal WDPM peritoneal well differentiated papillary mesothelioma peritoneal well differentiated papillary mesothelioma MONDO:0006365 A hamartomatous polyp that occurs in the stomach, small and large intestines, and rarely within the esophagus, nasopharynx and the urinary tract. The Peutz-Jeghers polyps are grossly lobulated and dark. Microscopically, they have a central core of smooth muscle covered by mucosa. The smooth muscle shows tree-like branching. The question of whether or not the Peutz-Jeghers polyp is precancerous is a matter of controversy. The loss of heterozygosity on chromosome 19p (where the responsible gene LKB1 is located) suggests that the increased risk of malignancy may be due to malignant transformation from hamartoma to adenocarcinoma. --2002 Peutz Jeghers polyp Peutz-Jeghers polyp Peutz-Jeghers polyp MONDO:0006366 A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium. Gastric Peutz-Jeghers polyp Peutz-Jeghers polyp of the stomach MONDO:0006367 An adenoid cystic carcinoma that arises from the pharynx. adenoid cystic carcinoma of pharynx adenoid cystic carcinoma of the pharynx pharyngeal adenoid cystic carcinoma pharyngeal throat adenoid cystic cancer pharynx adenoid cystic carcinoma pharyngeal adenoid cystic carcinoma MONDO:0006368 An extremely rare, benign or malignant mesenchymal tumor arising from the soft tissues or bones. It is a distinctive tumor, which usually displays the following morphologic characteristics: low cellularity, myxoid changes, presence of spindled cells and osteoclasts, hemangiopericytoma-like vessels, hemorrhage, and osteoid-like matrix. It is associated with the presence of a paraneoplastic syndrome called osteogenic osteomalacia. This syndrome usually precedes the appearance of the tumor, and it is characterized by phosphaturia, hypophosphatemia, normal serum calcium levels, and decreased levels of 1,25-dihydroxyvitamin D3. Patients present with bone and muscle pain, severe muscle weakness, fractures, gait disturbances, skeletal deformity, height loss, and slow growth. The metabolic disturbances improve or completely disappear after the complete resection of the tumor. phosphaturic mesenchymal tumor phosphaturic mesenchymal tumor, mixed connective tissue type phosphaturic mesenchymal tumor, mixed connective tissue variant phosphaturic mesenchymal tumor MONDO:0006369 A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO) pineal parenchymal tumor of intermediate differentiation pineal parenchymal tumor of intermediate differentiation (morphologic abnormality) pineal parenchymal tumour of intermediate differentiation PPTID pineal parenchymal tumors of intermediate differentiation pineal parenchymal tumor of intermediate differentiation MONDO:0006372 An extremely rare, WHO grade I, circumscribed and slow-growing tumor that arises from the neurohypophysis or infundibulum and described in adults. It is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. Signs and symptoms include visual disturbances, headache, amenorrhea, and decreased libido. pituicytoma pituicytoma (WHO grade I) posterior pituitary astrocytoma PTCY pituicytoma MONDO:0006373 A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss. adenoma of pituitary adenoma of pituitary gland adenoma of the pituitary adenoma of the pituitary gland adenoma, anterior lobe pituitary gland, benign pituitary adenoma pituitary gland adenoma PTAD pituitary gland adenoma MONDO:0006374 Choriocarcinoma that develops in the placenta. It is the rarest form of gestational choriocarcinoma. Metastases to the mother and infant may occur. choriocarcinoma of the placenta placenta choriocarcinoma (disease) placental choriocarcinoma choriocarcinoma of placenta placenta choriocarcinoma placental choriocarcinoma MONDO:0006375 A hemangioma arising from the fetal blood vessels in the placental villi. Chorangioma chorioangioma hemangioma of placenta placenta hemangioma placental hemangioma Chorangioma of the placenta Chorangioma placentae angioma of placenta angioma of the placenta hemangioma of the placenta placental angioma placental hemangioma MONDO:0006377 Malignant mesothelioma that arises from the pleura. It is characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor. pleural biphasic mesothelioma pleural biphasic mesothelioma MONDO:0006378 Malignant mesothelioma that arises from the pleura and is characterized by the presence of cells with epithelioid morphology. The epithelioid cells usually have eosinophilic cytoplasm, bland nuclei, and form tubulopapillary, microglandular, or sheet-like patterns. malignant epithelioid mesothelioma of pleura pleura malignant epithelioid mesothelioma pleural epithelioid mesothelioma pleural epithelioid mesothelioma MONDO:0006380 Malignant mesothelioma that arises from the pleura and is characterized by the presence of spindle-shaped cells forming fascicles, or that are distributed haphazardly resembling a sarcoma. pleura sarcomatoid mesothelioma pleural sarcomatoid mesothelioma sarcomatoid mesothelioma of pleura pleural sarcomatoid mesothelioma MONDO:0006381 A histologic variant of solid/multicystic ameloblastoma characterized by the presence of basal cells forming anastomosing strands and cords in a delicate stroma. plexiform ameloblastoma MONDO:0006382 An adenocarcinoma arising from the thyroid gland showing only limited evidence of follicular cell differentiation. Microscopically, the adenocarcinoma cells are arranged in insular, solid, and trabecular patterns. There is associated necrosis, and vascular invasion. The prognosis depends on the tumor stage, complete or partial surgical removal of the tumor, and the degree of response to radioactive iodine therapy (adapted from WHO Tumors of Endocrine Organs, IARC Press, Lyon 2004) insular carcinoma poorly differentiated carcinoma of the thyroid gland poorly differentiated carcinoma of thyroid gland poorly differentiated thyroid carcinoma poorly differentiated thyroid gland cancer poorly differentiated thyroid gland carcinoma thyroid gland poorly differentiated carcinoma poorly differentiated thyroid cancer poorly differentiated thyroid gland carcinoma MONDO:0006383 An aggressive primary cutaneous B-cell lymphoma, usually involving the lower leg. It is composed of a generally monotonous proliferation of immunoblasts, or less frequently centroblasts, with few admixed reactive cells. This type of lymphoma occurs most often in elderly women who present with rapidly growing tumors, usually on one or both legs. Dissemination to extracutaneous sites is frequent. Treatment with combination chemotherapy is usually required. PCDLBCL,LT primary cutaneous diffuse large B-cell lymphoma, Leg type primary cutaneous diffuse large B-cell lymphoma, Leg type MONDO:0006385 A squamous cell carcinoma that arises centrally from the jaw. It derives from odontogenic epithelial remnants. It includes solid type squamous cell carcinoma, squamous cell carcinoma that arises from an odontogenic cyst, and squamous cell carcinoma that derives from a keratocystic odontogenic tumor. PIOSCC primary intraosseous squamous cell carcinoma MONDO:0006386 A rare, serous adenocarcinoma that diffusely involves the pelvic peritoneum seen predominantly in elderly postmenopausal women. Exclusion of serous carcinoma arising from the ovary and fimbrial end of fallopian tube is required to diagnose the above entity. primary peritoneal serous adenocarcinoma primary peritoneal serous adenocarcinoma MONDO:0006387 A diffuse large B-cell lymphoma that is localized to the lungs at the time of presentation. Signs and symptoms include cough, dyspnea, and hemoptysis. diffuse large B-cell lymphoma of lung high grade MALT lymphoma of the lung lung diffuse large B-cell lymphoma primary pulmonary diffuse large B-cell lymphoma pulmonary diffuse large B-cell lymphoma primary pulmonary diffuse large B-cell lymphoma MONDO:0006388 A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin. PRL producing pituitary gland carcinoma malignant pituitary gland prolactinoma malignant pituitary prolactinoma malignant prolactin producing neoplasm of pituitary malignant prolactin producing neoplasm of pituitary gland malignant prolactin producing neoplasm of the pituitary malignant prolactin producing neoplasm of the pituitary gland malignant prolactin producing pituitary gland neoplasm malignant prolactin producing pituitary gland tumor malignant prolactin producing pituitary neoplasm malignant prolactin producing pituitary tumor malignant prolactin producing tumor malignant prolactin producing tumor of pituitary malignant prolactin producing tumor of pituitary gland malignant prolactin producing tumor of the pituitary malignant prolactin producing tumor of the pituitary gland malignant prolactin secreting neoplasm of pituitary malignant prolactin secreting neoplasm of pituitary gland malignant prolactin secreting neoplasm of the pituitary malignant prolactin secreting neoplasm of the pituitary gland malignant prolactin secreting pituitary gland neoplasm malignant prolactin secreting pituitary gland tumor malignant prolactin secreting pituitary neoplasm malignant prolactin secreting pituitary tumor malignant prolactin secreting tumor of pituitary malignant prolactin secreting tumor of pituitary gland malignant prolactin secreting tumor of the pituitary malignant prolactin secreting tumor of the pituitary gland malignant prolactinoma malignant prolactinoma of pituitary malignant prolactinoma of pituitary gland malignant prolactinoma of the pituitary malignant prolactinoma of the pituitary gland prolactin producing pituitary gland carcinoma prolactin-producing pituitary gland carcinoma prolactin-producing pituitary gland carcinoma MONDO:0006389 A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the prostate. prostate gland rhabdomyosarcoma prostate gland rhabdomyosarcoma (disease) prostate rhabdomyosarcoma rhabdomyosarcoma (disease) of prostate gland rhabdomyosarcoma of prostate rhabdomyosarcoma of the prostate prostate rhabdomyosarcoma MONDO:0006390 A neuroendocrine carcinoma of the prostate gland with unfavorable prognosis, composed of small cells containing neurosecretory granules. Approximately half of the cases show a mixture of small cells and adenocarcinoma cells. Oat cell carcinoma of prostate Oat cell carcinoma of the prostate prostate Oat cell carcinoma prostate gland small cell carcinoma prostate oat cell carcinoma prostate small cell NEC prostate small cell carcinoma prostate small cell neuroendocrine carcinoma small cell carcinoma of prostate small cell carcinoma of prostate gland small cell carcinoma of the prostate PRSCC Editor note: DO classifies as lung oat cell carcinoma prostate small cell carcinoma MONDO:0006391 A rare neoplastic polyp that arises from the stomach. It is characterized by the presence of gastric epithelial differentiation and pyloric gland-type tubular structures, which are closely packed. pyloric gastric gland adenoma pyloric gland adenoma pyloric gland adenoma MONDO:0006392 A serrated polypoid lesion that arises in the rectum. It rarely produces symptoms. This group includes goblet cell rich, mucin poor, and microvesicular hyperplastic polyps. hyperplastic polyp of rectum hyperplastic polyp of the rectum rectal Hp rectal MP rectal metaplastic polyp rectal hyperplastic polyp MONDO:0006393 An adenoma that arises from the rectum. It is characterized by prominent serration of the glands and the presence of generalized low-grade dysplasia. rectal TSA rectal serrated adenoma rectal serrated adenoma type II rectal traditional serrated adenoma rectal traditional serrated adenoma MONDO:0006394 A usually polypoid neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features. rectal tubular adenoma rectal tubular adenoma MONDO:0006395 A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features. Villotubular adenoma of rectum Villotubular adenoma of the rectum rectal Villotubular adenoma rectal tubulovillous adenoma tubulovillous adenoma of rectum tubulovillous adenoma of the rectum rectal tubulovillous adenoma MONDO:0006396 A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features. rectal villous adenoma rectum villous adenoma villous adenoma of rectum villous adenoma of the rectum rectal villous adenoma MONDO:0006397 A group of kidney carcinomas characterized by the presence of different translocations involving the chromosome Xp11.2. These translocations result in the creation of gene fusions involving the TFE3 gene. Patients are usually children and young adults. Morphologically, the malignant epithelial cells form papillary patterns. TFE3-Rearranged renal cell carcinoma Xp11.2 translocation-related renal cell carcinoma renal cell cancer associated with Xp11.2 translocations/TFE3 Gene fusions renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions tRCC translocation-associated renal cell carcinoma renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions MONDO:0006398 A multinodular intermediate fibroblastic neoplasm arising from the retroperitoneum. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells. retroperitoneal inflammatory myofibroblastic tumor retroperitoneal space inflammatory myofibroblastic tumor retroperitoneal inflammatory myofibroblastic tumor MONDO:0006400 A carcinoma of the salivary gland characterized by serous acinar cell differentiation. The vast majority of cases occur in the parotid gland. It usually presents as a slowly enlarging mass. A minority of patients experience pain. It may recur or metastasize. Multiple recurrences and metastasis to cervical lymph nodes are usually associated with a poor prognosis. acinic cell carcinoma of salivary gland acinic cell carcinoma of the salivary gland acinic cell neoplasm of salivary gland acinic cell neoplasm of the salivary gland acinic cell tumor of salivary gland acinic cell tumor of the salivary gland salivary gland acinic cell cancer salivary gland acinic cell neoplasm salivary gland acinic cell tumor salivary gland acinic cell carcinoma MONDO:0006401 A rare, aggressive carcinoma that arises from the salivary glands. It is characterized by the presence of a squamous and a glandular epithelial component. saliva-secreting gland adenosquamous carcinoma salivary gland adenosquamous carcinoma salivary gland adenosquamous carcinoma MONDO:0006402 A rare adenocarcinoma of the major and minor salivary glands, originating from basaloid, myoepithelial and ductal cells. While morphologically resembling basal cell carcinomas, it is a distinct entity. The tumor is not encapsulated, may invade locally, and less frequently may metastasize. It usually occurs in older patients. basal cell adenocarcinoma basal cell adenocarcinoma of salivary gland basal cell adenocarcinoma of the salivary gland saliva-secreting gland skin basal cell carcinoma salivary gland basal cell adenocarcinoma skin basal cell carcinoma of saliva-secreting gland salivary gland basal cell adenocarcinoma MONDO:0006403 A carcinoma that arises from a pleomorphic adenoma in the salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive. saliva-secreting gland carcinoma ex pleomorphic adenoma salivary gland carcinoma ex pleomorphic adenoma pleomorphic adenoma carcinoma Editor note: DO class placed here as it denotes a salivary gland specific form salivary gland carcinoma ex pleomorphic adenoma MONDO:0006404 A rare, highly aggressive carcinoma that arises from the salivary gland, predominantly the parotid gland. It is characterized by the presence of large pleomorphic malignant cells with abundant cytoplasm. Patients usually present with a rapidly growing mass. large cell salivary gland carcinoma large cell undifferentiated salivary gland carcinoma saliva-secreting gland large cell carcinoma salivary gland large cell carcinoma salivary gland large cell carcinoma MONDO:0006405 An infrequent small cell carcinoma that arises from the salivary glands and is characterized by the presence of a high number of mitotic figures. anaplastic small cell carcinoma of salivary gland anaplastic small cell carcinoma of the salivary gland neuroendocrine carcinoma of salivary gland neuroendocrine carcinoma of the salivary gland saliva-secreting gland small cell carcinoma salivary gland anaplastic small cell carcinoma salivary gland small cell carcinoma small cell carcinoma of saliva-secreting gland small cell salivary gland carcinoma salivary gland neuroendocrine carcinoma salivary gland small cell carcinoma MONDO:0006406 A malignant epithelial neoplasm characterized by the presence of spindle cells and anaplastic morphologic features. Giant cells and a sarcomatous component may also be present. carcinoma, spindle cell, malignant pseudosarcomatous carcinoma sarcomatoid carcinoma spindle cell carcinoma spindle cell carcinoma (morphologic abnormality) sarcomatoid carcinoma MONDO:0006407 A diffuse malignant mesothelioma arising from the pleura and less often the peritoneum. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen. malignant fibrous mesothelioma malignant fibrous mesothelioma (morphologic abnormality) sarcomatoid mesothelioma sarcomatoid mesothelioma (morphologic abnormality) spindled mesothelioma sarcomatoid mesothelioma MONDO:0006408 A rare adenoma of the adrenal cortex that produces androgens or estrogens. Sex hormone producing adrenal cortex adenoma Sex hormone producing adrenal cortical adenoma sex hormone-producing adrenal cortex adenoma MONDO:0006409 A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin. gastric signet Ring cell adenocarcinoma gastric signet ring cell adenocarcinoma signet Ring cell adenocarcinoma of stomach signet Ring cell adenocarcinoma of the stomach signet Ring cell stomach adenocarcinoma signet ring cell gastric adenocarcinoma signet ring cell carcinoma of the stomach signet ring cell gastric adenocarcinoma MONDO:0006410 A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia may be present or absent. simple endometrial hyperplasia MONDO:0006411 A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor. Sinonasal anaplastic carcinoma sinonasal undifferentiated carcinoma undifferentiated Sinonasal cancer SNUC highly aggressive undifferentiated carcinoma of the nasal cavity and paranasal sinuses sinonasal undifferentiated carcinoma https://rarediseases.info.nih.gov/diseases/9249/sinonasal-undifferentiated-carcinoma MONDO:0006412 A rare disorder of unknown etiology characterized by distention of the lymph node sinuses and sinusoidal histiocytic infiltration. The histiocytes characteristically contain ingested lymphocytes. Patients present with cervical lymphadenopathy, fever, leukocytosis, and hypergammaglobulinemia. It can affect extranodal sites, including skin, bones, and the respiratory tract. It usually regresses spontaneously. https://github.com/monarch-initiative/mondo/issues/4236 Destombes-RosaC/-Dorfman disease Destombes-Rosaï-Dorfman disease RDD RosaC/-Dorfman-Destombes disease Rosai-Dorfman disease Rosaï-Dorfman-Destombes disease SHML sinus histiocytosis with massive lymphadenopathy sinus histiocytosis with massive lymphadenopathy MONDO:0006414 A sarcoma that arises from the skin. Representative examples include Kaposi sarcoma, angiosarcoma, lymphangiosarcoma, liposarcoma, and leiomyosarcoma. cutaneous sarcoma sarcoma of skin sarcoma of the skin sarcoma of zone of skin skin sarcoma zone of skin sarcoma skin sarcoma MONDO:0006416 A Burkitt lymphoma that arises from the small intestine. Burkitt lymphoma of small intestine Burkitts lymphoma of small intestine primary small intestinal Burkitt's lymphoma small intestinal Burkitt lymphoma small intestinal Burkitt's lymphoma small intestine Burkitt lymphoma small intestine Burkitt's lymphoma small intestine Burkitts lymphoma small intestinal Burkitt lymphoma MONDO:0006417 A diffuse large B-cell lymphoma that arises from the small intestine. diffuse large B-cell lymphoma of small intestine small intestinal diffuse large B-cell lymphoma small intestine diffuse large B-cell lymphoma small intestinal diffuse large B-cell lymphoma MONDO:0006418 An enteropathy-associated T-cell lymphoma arising from the small intestine, most commonly the jejunum or ileum. Patients usually present with abdominal pain, often associated with intestinal perforation. There is often a history of celiac disease. The lymphoma cells are usually medium-sized to large and form an ulcerating mucosal lesion with invasion of the small intestinal wall. Villous atrophy is present in the adjacent small intestinal mucosa. In a minority of cases the lymphoma cells are medium-sized and form a monomorphic infiltrate. enteropathy-associated T-cell lymphoma of small intestine small intestinal EATL small intestinal enteropathy-type T-cell lymphoma small intestine enteropathy-associated T-cell lymphoma small intestinal enteropathy-associated T-cell lymphoma MONDO:0006419 A precancerous neoplastic process that affects the small intestine. It is characterized by low or high grade dysplasia of the mucosal epithelium. There is no evidence of invasion. small intestinal dysplasia small intestinal intraepithelial neoplasia small intestinal intraepithelial neoplasia MONDO:0006420 A mucosa-associated lymphoid tissue lymphoma (MALT) that arises from the small intestine. The morphologic characteristics are similar to those seen in gastric MALT lymphomas, with the exception of the lymphoepithelial lesions that are less prominent in the small intestine. MALT lymphoma of small bowel MALT lymphoma of small intestine MALT lymphoma of the small bowel MALT lymphoma of the small intestine MALToma of small bowel MALToma of small intestine MALToma of the small bowel MALToma of the small intestine mucosa-associated lymphoid tissue lymphoma of small bowel mucosa-associated lymphoid tissue lymphoma of small intestine mucosa-associated lymphoid tissue lymphoma of the small bowel mucosa-associated lymphoid tissue lymphoma of the small intestine small bowel MALT lymphoma small bowel MALToma small bowel mucosa-associated lymphoid tissue lymphoma small intestinal mucosa-associated lymphoid tissue lymphoma small intestine MALT lymphoma small intestine MALToma small intestine mucosa-associated lymphoid tissue lymphoma small intestinal mucosa-associated lymphoid tissue lymphoma MONDO:0006421 A usually polypoid neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features. small intestinal tubular adenoma MONDO:0006422 A neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features. small intestinal tubulovillous adenoma MONDO:0006423 A benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification. chondroma of soft parts extraskeletal chondroma extraskeletal osteochondroma soft tissue chondroma soft tissue chondroma MONDO:0006424 A benign, intermediate, or malignant neoplasm that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms. neoplasm of soft tissue neoplasm of the soft tissue soft tissue neoplasm soft tissue tumor soft tissue tumors tumor of soft tissue tumor of the soft tissue SOFTTISSUE soft tissue neoplasm MONDO:0006426 A central nervous system embryonal tumor, not otherwise specified arising from the spinal cord. primitive neuroectodermal neoplasm of spinal cord primitive neuroectodermal neoplasm of the spinal cord primitive neuroectodermal tumor of spinal cord primitive neuroectodermal tumor of the spinal cord spinal cord PNET spinal cord primitive neuroectodermal neoplasm spinal cord primitive neuroectodermal tumor spinal cord primitive neuroectodermal tumor MONDO:0006427 A melanoma characterized by the presence of malignant spindle-shaped melanocytes. malignant spindle cell melanoma spindle cell malignant melanoma spindle cell melanoma spitzoid malignant melanoma desmoplastic melanoma spindle cell melanoma MONDO:0006428 A diffuse large B-cell lymphoma occurring in the spleen. primary splenic diffuse large B-cell lymphoma splenic diffuse large B-cell lymphoma splenic diffuse large B-cell lymphoma MONDO:0006429 A rare Hodgkin lymphoma that arises from the spleen. Hodgkin's disease of spleen Hodgkin's disease of the spleen Hodgkin's lymphoma of spleen Hodgkin's lymphoma of the spleen primary splenic Hodgkin's lymphoma splenic Hodgkin's disease splenic Hodgkin's lymphoma splenic Hodgkins lymphoma splenic hodgkin lymphoma MONDO:0006430 A mantle cell lymphoma occurring in the spleen. splenic mantle cell lymphoma splenic mantle cell lymphoma MONDO:0006432 Wilms tumor of the kidney characterized by the predominance of the mesenchymal component. stromal predominant Wilms tumor stromal predominant kidney Wilms tumor stromal predominant kidney Wilms' tumor stromal predominant kidney adenosarcoma stromal predominant nephroblastoma stromal predominant renal Wilm's tumor stromal predominant renal Wilms tumor stromal predominant renal Wilms' tumor stromal predominant renal adenosarcoma stromal predominant kidney Wilms tumor MONDO:0006435 An adenocarcinoma that arises from the submandibular gland. Representative examples include polymorphic low-grade adenocarcinoma and acinic cell carcinoma. adenocarcinoma of submandibular gland adenocarcinoma of the submandibular gland submandibular gland adenocarcinoma submandibular gland adenocarcinoma MONDO:0006436 An aggressive carcinoma that arises from the submandibular gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues. adenoid cystic carcinoma of submandibular gland adenoid cystic carcinoma of the submandibular gland submandibular gland adenoid cystic carcinoma submandibular gland adenoid cystic carcinoma MONDO:0006438 Synovial chondromatosis is a type of non-cancerous tumor that arises in the lining of a joint. The knee is most commonly affected, however it can affect any joint. The tumors begin as small nodules of cartilage. These nodules can separate and become loose within the joint. Some tumors may be no larger than a grain of rice. Synovial chondromatosis most commonly occurs in adults ages 20 to 50. Signs and symptoms may include pain, swelling, a decreased range of motion, and locking of the joint. The exact underlying cause of the condition is unknown. Treatment may involve surgery to remove the tumor. Recurrence of the condition is common. Henderson-Jones syndrome Reichel's syndrome synovial osteochondromatosis synovial chondromatosis https://rarediseases.info.nih.gov/diseases/6054/synovial-chondromatosis MONDO:0006442 A small, slow growing, benign neoplasm arising from the tendon sheaths. The tumor is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation. fibroma of tendon sheath fibroma of the tendon sheath tendon sheath fibroma tendon sheath fibroma MONDO:0006444 A teratoma which is characterized by morphologic transformation to malignancy and an aggressive clinical course. The malignant component most often is sarcomatous or carcinomatous. dermoid cyst with malignant transformation teratoma with malignant transformation TMT teratoma with malignant transformation https://rarediseases.info.nih.gov/diseases/10646/teratoma-with-malignant-transformation MONDO:0006446 A malignant germ cell neoplasm arising from the testis. It is composed of primitive epithelial cells arranged in solid, papillary, and glandular configurations. Most patients present with a testicular mass, which may be associated with pain. More than half of the patients have metastatic disease at diagnosis. The form of treatment following radical orchiectomy is stage dependent. embryonal carcinoma of testis embryonal carcinoma of the testis embryonal testis carcinoma testicular embryonal carcinoma testis embryonal carcinoma testicular embryonal carcinoma MONDO:0006447 A testicular germ cell tumor characterized by the absence of a seminomatous component. It includes embryonal carcinoma, yolk sac tumor, choriocarcinoma, teratoma, and mixed forms. non-dysgerminomatous germ cell tumor of testis non-seminomatous germ cell tumor of testis testicular germ cell tumor non-seminomatous testicular non seminomatous germ cell tumor testicular non-dysgerminomatous germ cell tumor testicular non-seminomatous germ cell tumor testicular non-seminomatous germ cell tumor MONDO:0006450 Acute myeloid leukemias, myelodysplastic syndromes, and myelodysplastic/myeloproliferative neoplasms arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders. acute myeloid Leukaemias and myelodysplastic syndromes, therapy-related therapy-related AML and MDS therapy-related acute myeloid leukemia and myelodysplastic syndrome therapy-related myeloid neoplasm TMN therapy-related myeloid neoplasms therapy-related myeloid neoplasm MONDO:0006451 Thymic carcinoma (TC) is a type of thymic epithelial neoplasm characterized by a high malignant potential. carcinoma of thymus malignant thymoma thymic carcinoma thymic carcinoma (excluding well differentiated thymic carcinoma) thymic carcinoma excluding well differentiated thymic carcinoma thymoma type C thymoma, malignant thymoma, malignant (morphologic abnormality) thymoma, type C thymoma, type C (morphologic abnormality) thymus carcinoma type C thymoma THYC thymic carcinoma MONDO:0006452 A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma. Thymus sarcomatoid carcinoma sarcomatoid carcinoma of Thymus sarcomatoid carcinoma of the Thymus thymic carcinosarcoma thymic sarcomatoid carcinoma thymic spindle cell carcinoma thymus sarcomatoid carcinoma thymic sarcomatoid carcinoma MONDO:0006455 A rare primary thymic carcinoma, characterized by an undifferentiated solid tumor growth, without associated sarcomatoid features. thymic undifferentiated carcinoma thymic undifferentiated carcinoma MONDO:0006456 A neoplasm arising from the epithelial cells of the thymus. Although thymomas are usually encapsulated tumors, they may invade the capsule and infiltrate the surrounding tissues or even metastasize to distant anatomic sites. The following morphologic subtypes are currently recognized: type A, type B, type AB, metaplastic, micronodular, microscopic, and sclerosing thymoma. Thymomas type B are further subdivided into types B1, B2, and B3. Thymoma type B3 usually has the most aggressive clinical course. thymoma (disease) primary thymic epithelial neoplasm primary thymic epithelial tumor thymoma thymoma (disease) THYM thymoma MONDO:0006458 Also known as well-differentiated thymic carcinoma, atypical thymoma, or epithelial thymoma, this type of thymoma displays morphologic characteristics of a well-differentiated carcinoma. The majority of cases occur in the anterior mediastinum as Masaoka stage II or stage III tumors. It is almost always invasive, it recurs frequently, and metastasizes in approximately 20% of the cases. atypical thymoma epithelial malignant thymoma epithelial thymoma malignant thymoma type B3 squamoid thymoma thymoma type B3 thymoma, epithelial well differentiated thymic carcinoma well-differentiated thymic carcinoma thymoma type B3 MONDO:0006459 A thymic epithelial neoplasm characterized by the presence of expanded areas which resemble the normal thymic cortex. The neoplastic epithelial cells are small and scant and there is a dense T-lymphocytic component present. Areas of medullary differentiation with or without Hassall's corpuscles are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It has a low grade malignant potential. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II tumors. lymphocyte-predominant thymoma lymphocyte-rich thymoma organoid thymoma predominantly cortical thymoma thymoma type B1 thymoma, organoid thymoma type B1 MONDO:0006460 A congenital benign cyst arising from the remnants of the thyroglossal duct. It is usually located in the midline of the neck. thyroglossal tract cyst thyroglossal duct cyst MONDO:0006462 A diffuse large B-cell lymphoma primarily involving the thyroid gland. diffuse large B-cell lymphoma of the thyroid diffuse large B-cell lymphoma of the thyroid gland diffuse large B-cell lymphoma of thyroid diffuse large B-cell lymphoma of thyroid gland primary thyroid gland diffuse large B-cell lymphoma thyroid diffuse large B-cell lymphoma thyroid gland diffuse large B-cell lymphoma thyroid gland diffuse large B-cell lymphoma MONDO:0006463 A primary, low grade carcinoma of the thyroid gland composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. Prominent cystic structures may be present. The clinical course is usually indolent. mucoepidermoid thyroid carcinoma mucoepidermoid thyroid gland carcinoma thyroid gland mucoepidermoid carcinoma thyroid gland mucoepidermoid carcinoma MONDO:0006464 An extranodal marginal zone B-cell lymphoma arising from mucosa-associated lymphoid tissue in the thyroid gland. The vast majority of cases are associated with chronic lymphocytic thyroiditis. thyroid MALT lymphoma thyroid mucosa-associated lymphoid tissue lymphoma thyroid gland mucosa-associated lymphoid tissue lymphoma MONDO:0006465 A follicular carcinoma of the thyroid gland, characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. The nuclear features that characterize the papillary carcinomas of the thyroid gland are absent. Hurthle cell carcinoma of the thyroid Hurthle cell carcinoma of the thyroid gland Hurthle cell carcinoma of thyroid Hurthle cell carcinoma of thyroid gland Hurthle cell thyroid gland carcinoma oncocytic carcinoma of the thyroid oncocytic carcinoma of thyroid thyroid oncocytic carcinoma thyroid Hurthle cell carcinoma thyroid gland Hurthle cell carcinoma thyroid gland oncocytic follicular carcinoma MONDO:0006466 A rare, slow growing, primary carcinoma of the thyroid gland characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. A small number of cases are composed exclusively of spindle epithelial cells or glandular cells. settle settle tumor spindle epithelial tumor with thymus-like differentiation tumor thyroid gland spindle cell tumor with thymus-like differentiation MONDO:0006467 A rapidly growing primary carcinoma of the thyroid gland composed of malignant squamous cells. The clinical course is usually aggressive. squamous cell thyroid gland carcinoma thyroid gland squamous cell carcinoma thyroid gland squamous cell carcinoma MONDO:0006468 A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive. Dedifferentiated thyroid gland carcinoma anaplastic carcinoma of the thyroid anaplastic carcinoma of the thyroid gland anaplastic carcinoma of thyroid anaplastic carcinoma of thyroid gland anaplastic thyroid cancer anaplastic thyroid carcinoma anaplastic thyroid gland carcinoma metaplastic thyroid gland carcinoma pleomorphic thyroid gland carcinoma sarcomatoid thyroid gland carcinoma thyroid gland carcinosarcoma thyroid gland undifferentiated (anaplastic) carcinoma thyroid gland undifferentiated carcinoma undifferentiated (anaplastic) thyroid gland cancer undifferentiated (anaplastic) thyroid gland carcinoma undifferentiated carcinoma of the thyroid undifferentiated carcinoma of the thyroid gland undifferentiated carcinoma of thyroid undifferentiated carcinoma of thyroid gland undifferentiated thyroid carcinoma undifferentiated thyroid gland carcinoma undifferentiated thyroid tumor THAP thyroid cancer, anaplastic thyroid carcinoma, anaplastic thyroid gland undifferentiated (anaplastic) carcinoma MONDO:0006469 An adamantinoma arising from the tibia. The tibia is the site which is more frequently involved by adamantinoma (80-90% of cases). adamantinoma of tibia tibia adamantinoma tibia long bone adamantinoma tibial adamantinoma tibial adamantinoma morphology tibial adamantinoma MONDO:0006470 A squamous cell carcinoma that arises from the mucosal lining of the tonsil and tends to metastasize early to the lymph nodes. It predominantly affects middle aged and elderly patients who have a history of alcohol and tobacco use. Patients may present with tonsillar swelling, sore throat, pain radiating to the ipsilateral ear, or a neck mass. palatine tonsil squamous cell carcinoma scc of the tonsil scc of tonsil squamous cell carcinoma of the tonsil squamous cell carcinoma of tonsil tonsil scc tonsillar scc tonsillar squamous cell carcinoma MONDO:0006471 An adenoid cystic carcinoma that arises from the trachea. It spreads to the submucosal tracheal tissue and to regional lymph nodes. adenoid cystic carcinoma of the trachea adenoid cystic carcinoma of trachea trachea adenoid cystic carcinoma tracheal adenoid cystic carcinoma tracheal adenoid cystic carcinoma MONDO:0006474 A malignant neoplasm arising from the transitional epithelium, usually affecting the urinary bladder, ureter, or renal pelvis. It may or may not have a papillary configuration. It is graded 1 to 3 or 4 according to the degree of cellular differentiation and architectural patterns. Grade 1 transitional cell carcinoma is histologically benign but it may recur. Transitional cell carcinomas may also affect the upper respiratory tract and the ovaries. transitional cell neoplasm transitional cell tumor carcinoma of transitional epithelial cell carcinoma of urothelial cell carcinoma, urothelial, malignant transitional carcinoma transitional cell carcinoma transitional epithelial cell carcinoma urothelial cell carcinoma transitional cell carcinoma https://rarediseases.info.nih.gov/diseases/7794/transitional-cell-carcinoma MONDO:0006476 A carcinoma without evidence of differentiation arising from the gallbladder. The most common variant is the spindle and giant cell type which resembles a sarcoma. anaplastic carcinoma of gallbladder anaplastic carcinoma of the gallbladder anaplastic gallbladder carcinoma gall bladder undifferentiated carcinoma gallbladder undifferentiated carcinoma undifferentiated carcinoma of gallbladder undifferentiated carcinoma of the gallbladder undifferentiated gallbladder cancer undifferentiated gallbladder carcinoma undifferentiated gallbladder carcinoma MONDO:0006477 An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by significant cytologic atypia, increased mitotic activity, and necrosis. The prognosis is usually poor. anaplastic carcinoma of ovary anaplastic carcinoma of the ovary anaplastic ovarian carcinoma ovarian undifferentiated carcinoma ovary undifferentiated carcinoma undifferentiated carcinoma of ovary undifferentiated carcinoma of the ovary undifferentiated ovarian cancer undifferentiated ovarian carcinoma undifferentiated ovarian carcinoma MONDO:0006478 A carcinoma with poor prognosis that arises from the pancreas. It is characterized by the presence of a significant malignant component that does not show differentiation. The malignant cells represent a mixture of large, pleomorphic cells and giant cells, or adenocarcinoma cells and spindle cells, or spindle cells. pancreas undifferentiated carcinoma pancreatic carcinosarcoma pleomorphic large cell pancreatic carcinoma sarcomatoid pancreatic carcinoma spindle cell pancreatic carcinoma undifferentiated (anaplastic) pancreatic carcinoma undifferentiated carcinoma of pancreas undifferentiated carcinoma of the pancreas undifferentiated pancreatic carcinoma UCP undifferentiated pancreatic carcinoma MONDO:0006479 A rare variant of undifferentiated pancreatic carcinoma characterized by the presence of non-neoplastic osteoclast-like giant cells. osteoclast-like giant cell neoplasm of pancreas osteoclast-like giant cell neoplasm of the pancreas pancreatic osteoclast-like giant cell carcinoma undifferentiated pancreatic carcinoma with osteoclast-like giant cells undifferentiated pancreatic carcinoma with osteoclast-like giant cells MONDO:0006480 An undifferentiated pleomorphic sarcoma characterized by the presence of numerous inflammatory cells. Xanthosarcoma inflammatory MFH inflammatory malignant fibrous histiocytoma malignant xanthogranuloma undifferentiated pleomorphic sarcoma, inflammatory variant undifferentiated pleomorphic sarcoma, inflammatory variant MONDO:0006481 A carcinoma that arises from epithelial cells of the ureter. ureter cancer carcinoma of the ureter carcinoma of ureter ureter carcinoma ureteral carcinoma ureter carcinoma MONDO:0006482 A rare carcinoma that arises from the ureter. It is characterized by the presence of small neuroendocrine cells. The prognosis is poor. small cell carcinoma of the ureter small cell carcinoma of ureter ureter small cell carcinoma ureteral small cell carcinoma ureter small cell carcinoma MONDO:0006483 A morphologic finding indicating the presence of dysplastic changes in the transitional cell epithelium of the urinary tract. transitional cell dysplasia of the urinary tract urothelial dysplasia This is a finding in NCIT. This class may be obsoleted and ceded to HPO in future. urothelial dysplasia MONDO:0006484 A neoplastic ductal proliferative lesion of the breast characterized by the formation of secondary lumens and prominent intraductal proliferation of a heterogeneous cellular population that may include epithelial cells, myoepithelial cells, or metaplastic apocrine cells. UDH ductal breast hyperplasia of usual type ordinary intraductal breast hyperplasia usual ductal breast hyperplasia MONDO:0006485 A usually aggressive malignant neoplasm arising from the uterine corpus and less often the cervix. It is characterized by the presence of two components: a malignant epithelial component and a sarcomatous component. In the uterine corpus the epithelial component is usually glandular whereas in the cervix is usually non-glandular. Carcinosarcoma of the cervix, although it is aggressive, it may have a better prognosis compared to the uterine corpus carcinosarcoma. carcinosarcoma of the uterus malignant mixed mesodermal (Mullerian) tumor of the uterus malignant mixed mesodermal (Müllerian) tumor of the uterus mixed mullerian sarcoma of uterus uterine carcinosarcoma uterine malignant mixed mesodermal (Mullerian) tumor uterine malignant mixed mesodermal (Müllerian) tumor uterus carcinosarcoma uterine carcinosarcoma/uterine malignant mixed mullerian tumor uterine carcinosarcoma MONDO:0006486 A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B. intraocular melanoma melanoma (disease) of uvea melanoma of the uvea melanoma of uvea melanoma, uveal, malignant uvea melanoma uvea melanoma (disease) uveal melanoma iris melanoma choroidal melanoma uveal melanoma MONDO:0006487 An adenoid cystic carcinoma that arises from the vagina. Myoepithelial cells are usually not present. vaginal adenoid cystic cancer vaginal adenoid cystic carcinoma vaginal adenoid cystic carcinoma MONDO:0006488 An aggressive mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant epithelial component and a malignant mesenchymal component. vaginal carcinosarcoma vaginal malignant mixed mesodermal (Müllerian) tumor malignant vaginal mixed epithelial and mesenchymal tumor vaginal malignant mixed Mullerian tumor vaginal malignant mixed mesodermal (Mullerian) tumor vaginal mixed epithelial and mesenchymal tumor vaginal carcinosarcoma MONDO:0006489 A primary malignant neoplasm of the vagina composed of malignant melanocytes. mucosal melanoma of the vulva/vagina melanoma (disease) of vagina melanoma of the vagina melanoma of vagina vagina melanoma vagina melanoma (disease) vaginal melanoma vaginal melanoma MONDO:0006490 A squamous cell carcinoma arising from the vagina. Human papillomavirus infection is associated with the development of vaginal intraepithelial neoplasia and invasive squamous cell carcinoma. Signs and symptoms include painless bleeding, postcoital bleeding, and urinary tract symptoms. Morphologically it resembles squamous cell carcinomas in other anatomic sites. Radiation therapy is the preferred treatment for most cases. The prognosis is related to the stage of the disease. carcinoma of vagina squamous cell epidermoid carcinoma of the vagina epidermoid carcinoma of vagina epidermoid cell carcinoma of the vagina epidermoid cell carcinoma of vagina squamous cell carcinoma of the vagina squamous cell carcinoma of vagina vagina epidermoid carcinoma vagina epidermoid cell carcinoma vagina squamous cell carcinoma vaginal epidermoid carcinoma vaginal epidermoid cell carcinoma vaginal squamous cell cancer vaginal squamous cell cancer, NOS vaginal squamous cell carcinoma squamous cell carcinoma of the vulva/vagina vaginal squamous cell carcinoma MONDO:0006491 A chronic inflammatory disorder of unknown etiology that affects the vulva. It is characterized by the development of white elevated plaques in the vulva. Histologically there is marked subepithelial fibrosis. Clinical manifestations include pruritus, dysuria, and dyspareunia. lichen sclerosus et atrophicus of mammalian vulva mammalian vulva lichen sclerosus et atrophicus vulvar lichen sclerosus vulvar lichen sclerosus MONDO:0006493 An adenoma characterized by an oncocytic, often papillary, epithelial component, dense lymphoid stroma, and cystic spaces. It occurs primarily in the parotid gland, and is the second most common benign parotid salivary gland tumor. A strong association with smoking has been reported. It typically presents as a painless swelling in the lower portion of the parotid gland. Warthin tumor Warthin's tumor adenolymphoma papillary cystadenoma lymphomatosum papillary cystadenoma lymphomatosum (formerly) Warthin tumor https://rarediseases.info.nih.gov/diseases/8569/warthin-tumor MONDO:0006496 A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45) Plegia Plegias palsy MONDO:0006497 A group of disorders affecting the development of movement and posture, often accompanied by disturbances of sensation, perception, cognition, and behavior. It results from damage to the fetal or infant brain. infantile cerebral palsy cerebral palsy MONDO:0006498 A polypoid adenoma that arises from and protrudes into the lumen of the colon. Epithelial dysplasia is always present. According to the architectural pattern it is classified as tubular, tubulovillous, or villous. adenomatous polyp of colon adenomatous polyp of the colon colon adenomatous polyp colonic adenomatous polyp adenomatous colon polyp MONDO:0006499 A benign and excessive tumor-like growth of mature cells and normal tissues which grow in a disorganized pattern. hamartoma (disease) hamartoma hamartoma (disease) hamartoma MONDO:0006500 A benign vascular lesion characterized by the formation of capillary-sized or cavernous vascular channels. benign hemangioma hemangioma hemangioma, benign angioma benign angioma hemangioma MONDO:0006502 Progressive and life-threatening pulmonary distress in the absence of an underlying pulmonary condition, usually following major trauma or surgery. Cases of neonatal respiratory distress syndrome are not included in this definition. ARDS acute respiratory distress syndrome shock lung ALI Stiff lung acute lung injury increased-permeability pulmonary edema non-cardiogenic pulmonary edema This disease can present as a mild ARDS (PaO2/FiO2 of 201–300 mmHg) moderate ARDS (PaO2/FiO2 of 101–200 mmHg) and severe ARDS (PaO2/FiO2 ≤100 mmHg). [PMID:30872586] acute respiratory distress syndrome MONDO:0006504 An instance of metabolic disease that is acquired during the lifetime of the individual. acquired metabolic disease acquired metabolic disease MONDO:0006505 A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (basal ganglia), such as infarction; hemorrhage; or ischemia in vessels of this brain region including the lateral lenticulostriate arteries. Primary clinical manifestations include involuntary movements (dyskinesias) and muscle weakness (hemiparesis). cerebrovascular disorder of collection of basal ganglia collection of basal ganglia cerebrovascular disorder basal ganglia cerebrovascular disorder MONDO:0006506 Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in glucose-6-phosphate isomerase; pyruvate kinase; and glucose-6-phosphate dehydrogenase. https://github.com/monarch-initiative/mondo/issues/4069 HNSHA hereditary nonspherocytic hemolytic anemia congenital nonspherocytic hemolytic anemia MONDO:0006507 An inherited metabolic disorder characterized by iron accumulation in the tissues. https://github.com/monarch-initiative/mondo/issues/3557 haemochromatosis hemochromatosis diabetes bronze hemochromatosis, hereditary iron storage disorder Editor notes: HH1 is not rare, so the current placement of generic HH under rare inborn errors of metabolism is technically incorrect. However, reclassifying on the basis of prelvalence does not make biological sense since the mechanism is the same. See notes on MONDO:0019052 hereditary hemochromatosis MONDO:0006509 A malignant epithelial neoplasm characterized by a papillary growth pattern. A papillary carcinoma may be composed of glandular cells (papillary adenocarcinoma), squamous cells (papillary squamous cell carcinoma), or transitional cells (papillary transitional cell carcinoma). Bladder carcinoma is a representative example of papillary transitional cell carcinoma. papillary carcinoma papillary carcinoma (morphologic abnormality) papillary carcinoma NOS (morphologic abnormality) papillary carcinoma MONDO:0006510 Genetic defects in the selective or non-selective transport functions of the kidney tubules. disorder of renal absorption inborn renal tubular transport disorder renal absorption disease kidney tubular transport, inborn error kidney tubular transport, inborn errors renal tubular transport errors renal tubular transport, inborn error renal tubular transport disease MONDO:0006512 A subtype of breast cancer that is estrogen-receptor positive ER+ breast cancer estrogen receptor positive breast cancer estrogen-receptor positive breast cancer MONDO:0006513 A subtype of breast cancer that is estrogen-receptor negative ER- breast cancer estrogen-receptor negative breast cancer MONDO:0006514 Moderate to severe atopic dermatitis with allergic sensitisation. https://github.com/monarch-initiative/mondo/issues/5854 2023-04-01 Reason of obsoletion: out of scope - MONDO:excludeClinicalModifier. Term to consider: atopic eczema'-MONDO:0004980 recalcitrant atopic dermatitis MONDO:0006515 An acute inflammatory process that leads to necrosis of the pancreatic parenchyma. Signs and symptoms include severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock. Causes include alcohol consumption, presence of gallstones, trauma, and drugs. acute necrotizing pancreatitis acute pancreatitis (disorder) [ambiguous] pancreatitis necrotizing pancreatitis, acute acute pancreatitis MONDO:0006516 Progressive decline in muscle mass due to aging which results in decreased functional capacity of muscles. sarcopenia MONDO:0006517 A malignant tumor that occurs in children. Representative examples include soft tissue and bone sarcomas (e.g. osteosarcoma) and embryonal neoplasms (e.g. hepatoblastoma and rhabdoid tumor). childhood cancer childhood malignant neoplasm childhood neoplasm, malignant malignant childhood neoplasm malignant childhood tumor malignant pediatric neoplasm malignant pediatric tumor pediatric cancer malignant neoplasm childhood malignant neoplasm MONDO:0006518 Sporadic Creutzfeldt-Jakob disease (sCJD) is the most common type of CJD, accounting for around 85% of cases. The precise cause of sporadic CJD is unclear, but it's been suggested that a normal brain protein changes abnormally ('misfolds') and turns into a prion. Most cases of sporadic CJD occur in adults aged between 45 and 75. On average, symptoms develop at age 60-65 years. sporadic Creutzfeld Jacob disease MONDO:0006519 A primary or metastatic malignant neoplasm that affects the rectum. Representative examples include carcinoma, lymphoma, and sarcoma. carcinoma of rectum carcinoma of the rectum cancer of rectum malignant neoplasm of rectum malignant neoplasm of the rectum malignant rectal neoplasm malignant rectal tumor malignant rectum neoplasm malignant rectum tumor malignant tumor of rectum malignant tumor of the rectum rectal cancer rectum cancer rectal cancer MONDO:0006520 A rare disorder which affects the volar surfaces of fingers. Clinical signs include recurrent, spontaneous or post-traumatic bruising of fingers. The clinical course of the resultant hematoma usually follows a pattern of resolution within days. Achenbach syndrome paroxysmal hematoma of the finger Achenbach syndrome MONDO:0006521 Cutaneous eruptions resembling acne, characterized by the presence of papulonodules, pustules, comedones, or cysts in the face, trunk, and extremities. Causes include infections and the use of certain medications (e.g., antibiotics and steroids). Rash acneiform acneiform dermatitis MONDO:0006522 Focal or diffuse thickening of the skin not inherited as a primary genetic disorder. Causes include inflammatory skin disorders, infectious disorders, lymphedema, and medications. acquired keratoderma acquired keratosis keratoderma - acquired keratoderma, acquired acquired hyperkeratosis acquired keratosis MONDO:0006523 An inflammatory skin condition affecting children. It is often associated with Epstein-Barr virus infection, hepatitis B infection or cytomegalovirus infection. It is characterized by the presence of cutaneous rashes and patches on the palms and soles. The trunk is not affected. acrodermatitis https://rarediseases.info.nih.gov/diseases/5722/acrodermatitis MONDO:0006524 An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis. Herxheimer disease primary diffuse atrophy acrodermatitis chronica atrophicans MONDO:0006525 An inflammatory skin condition caused by an immune response to direct contact between the skin and an allergen. It consists of a delayed type of allergic reaction at the affected site with resulting red, swollen, and blistered skin that may itch or leak. allergic contact dermatitis allergic form of contact dermatitis allergic contact dermatitis MONDO:0006526 A urticaria with a basis in a pathological type I hypersensitivity reaction. allergic form of urticaria allergic form of urticaria (disease) allergic urticaria (disease) allergic urticaria MONDO:0006527 Lack of sweating or the ability to sweat when provoked by the appropriate stimulus. absence of sweating adiaphoresis anhidrosis MONDO:0006528 A bacteria-induced exanthem bacterial exanthem MONDO:0006530 A pathologic process characterized by the proliferation of keratinizing squamous epithelium resulting in the accumulation of keratin and cells in the middle ear and/or mastoid. It may be congenital or acquired. If left untreated, it may increase in size and destroy adjacent structures. cholesteatoma (disease) cholesteatoma cholesteatoma (disease) congenital cholesteatoma (type) primary acquired cholesteatoma (type) secondary acquired cholesteatoma (type) cholesteatoma MONDO:0006531 A cholesteatoma in the attic cholesteatoma of attic MONDO:0006532 A cholesteatoma (disease) that involves the external ear. cholesteatoma (disease) of external ear external canal cholesteatoma external ear cholesteatoma (disease) cholesteatoma of external ear MONDO:0006533 A non-neoplastic lesion characterized by the proliferation of keratinizing squamous epithelium in the middle ear that results in the accumulation of keratin and cells. It is usually caused by repeated infections. If left untreated, it may increase in size and destroy the adjacent delicate bones of the middle ear. Epidermosis of ear Epidermosis of middle ear cholesteatoma (disease) of middle ear cholesteatoma of middle ear cholesteatoma of middle ear and mastoid cholesteatoma of middle ear and/or mastoid cholesteatoma of the middle ear middle ear cholesteatoma middle ear cholesteatoma (disease) unspecified cholesteatoma (morphologic abnormality) cholesteatoma of middle ear MONDO:0006534 A type of physical urticarias (or hives) that appears when a person is sweating. cholinergic urticaria MONDO:0006536 An extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues. congenital generalized lipodystrophy (disease) congenital generalized lipodystrophy congenital generalized lipodystrophy (disease) familial generalized lipodystrophy hereditary generalized lipodystrophy lipodystrophy, congenital generalized congenital generalized lipodystrophy MONDO:0006537 Pigmented lesions that arise from the conjunctiva include nevus, complexion-associated melanosis (CAM), primary acquired melanosis (PAM), and malignant melanoma.1,2All of these lesions arise from melanocytes. However, a number of other lesions have a similar appearance but a different source, such as pigment deposits from silver and iron. conjunctival pigmentation MONDO:0006539 A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue. It has been associated with several genetic disorders and different clinical conditions such as liver disease, excessive alcohol intake, adrenocortical steroid therapy, and antiretroviral therapy. diffuse lipomatosis diffuse lipomatosis MONDO:0006540 A recurrent eczematous reaction characterized by the development of vesicular eruptions on the palms and soles, particularly along the sides and between the digits. It is accompanied by pruritus, a burning sensation, and hyperhidrosis. The disease is self-limiting, lasting only a few weeks. (Dorland, 27th ed) DYSHYDROTIC eczema cheiropompholyx dyshidrosis vesicular eczema of hands and/or feet pompholyx dyshidrosis MONDO:0006541 Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of epidermolysis bullosa: dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Junctional epidermolysis bullosa Kindler Syndrome Identifying the exact type can be hard because there are many subtypes of EB. Within each type or subtype, a person may be mildly or severely affected. The disease can range from being a minor inconvenience to completely disabling, and fatal in some cases. Most types of EB are inherited. The inheritance pattern may be autosomal dominant or autosomal recessive. Management involves protecting the skin, reducing friction against the skin, and keeping the skin cool. acantholysis bullosa epidermolysis bullosa EB epidermolysis bullosa https://rarediseases.info.nih.gov/diseases/6359/epidermolysis-bullosa MONDO:0006543 A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes. https://github.com/monarch-initiative/mondo/issues/3856 DEB dermolytic epidermolysis bullosa epidermolysis bullosa dystrophica epidermolysis bullosa, dermolytic epidermolysis bullosa dystrophica MONDO:0006544 A self-limited viral infectious disorder caused by the human parvovirus B19. It affects predominantly children and is characterized by the development of a bright red skin eruption in the cheeks. It is followed by a maculopapular skin eruption in the extremities which eventually fades into a lacey pattern. fifth disease erythema infectiosum MONDO:0006545 Erythema multiforme (EM) refers to a group ofhypersensitivity disorders characterized by symmetric red, patchy lesions, primarily on the arms and legs. The cause is unknown, but EM frequently occurs in association with herpes simplex virus, suggesting an immunologic process initiated by the virus. In half of the cases, the triggering agents appear to be medications, including anticonvulsants, sulfonamides, nonsteroidal anti-inflammatory drugs, and other antibiotics. In addition, some cases appear to be associated with infectious organisms such as Mycoplasma pneumoniae and many viral agents. Erythema multiforme is the mildest of three skin disorders that are often discussed in relation to each other. It is generally the mildest of the three. More severe is Stevens-Johnson syndrome. The most severe of the three is toxic epidermal necrolysis (TEN). Dermatostomatitis, erythema multiforme type EM Herpes iris, erythema multiforme type erythema multiforme bullosum erythema polymorphe, erythema multiforme type febrile mucocutaneous syndrome erythema multiforme https://rarediseases.info.nih.gov/diseases/6372/erythema-multiforme MONDO:0006546 A skin condition that primarily affects the scalp and face and presents as scaly inflammation. Examples include itchy, dry skin and dandruff. Other erythematosquamous dermatosis erythematosquamous dermatosis erythematosquamous dermatosis MONDO:0006547 Any change in the skin which affects its appearance or texture. A rash may be localized to one part of the body, or affect all the skin. Rashes may cause the skin to change color, itch, become warm, bumpy, dry, cracked or blistered, swell and may be painful. exanthem (disease) Rash cutaneous eruption exanthem exanthem (disease) exanthema skin Rash skin eruption exanthem MONDO:0006548 Facial Dermatosis, also known as facial dermatoses, is related tolipogranulomatosis. An important gene associated with Facial Dermatosis isCCNE1(cyclin E1). The drugsbetamethasoneandbetamethasone acetatehave been mentioned in the context of this disorder. facial dermatosis MONDO:0006549 A non-neoplastic polypoid lesion that arises from the anal canal or perianal skin. It is composed of dense fibrous stroma and it is covered by squamous epithelium. anal fibroepithelial polyp anal fibrous polyp anal tag anus skin tag fibroepithelial polyp of anus fibrous polyp of anus fibrous polyp of the anus skin tag of anus fibroepithelial polyp of the anus MONDO:0006550 A benign polypoid lesion of mesodermal origin that arises from the urethra. fibroepithelial polyp of the urethra fibroepithelial polyp of urethra urethra fibroepithelial polyp urethra skin tag urethral fibroepithelial polyp skin tag of urethra fibroepithelial polyp of urethra MONDO:0006551 A rare dermatologic disorder characterized by the accumulation of mucinous material in the hair follicles. In some cases it is associated with lymphoproliferative disorders, most often mycosis fungoides and Hodgkin lymphoma. alopecia Mucinosa alopecia mucinosa alopecia mucinosis cutaneous focal mucinosis of hair follicle follicular mucinosis hair follicle cutaneous focal mucinosis alopecia mucinosa MONDO:0006552 Inflammation of the hair follicles. Causes include excessive perspiration, skin infections, and skin wounds. dermatitis of hair follicle hair follicle dermatitis folliculitis MONDO:0006553 Fox-Fordyce disease isa chronic skin diseasemost common in women aged 13-35 years.It is characterized by the development of intense itching in the underarm area, the pubic area, and around the nipple of the breast as a result of perspiration which becomes trapped in the sweat gland and surrounding areas. The cause is unknown,but heat, humidity, and stress may play a role. Treatment may include the use of retinoids, antibiotics, and immunosuppressants. Fox Fordyce disease Fox-Fordyce disease Fox-Fordyce syndrome apocrine miliaria miliaria, apocrine Fox-Fordyce disease https://rarediseases.info.nih.gov/diseases/6462/fox-fordyce-disease MONDO:0006554 Granuloma annulare is a long-term (chronic) skin disease consisting of a rash with reddish bumps arranged in a circle or ring. The most commonly affected areas are the forearms, hands and feet. The lesions associated with granuloma annulare usually resolve without treatment. Strong steroids (applied as a cream or injection) are sometimes used to clear the rash more quickly. Most symptoms will disappear within 2 years (even without treatment), but recurrence is common. The underlying cause of granuloma annulare is unknown. Granulome annulare granuloma annulare granuloma annulare https://rarediseases.info.nih.gov/diseases/6546/granuloma-annulare MONDO:0006555 An inflammatory reaction of the skin to various organic and inorganic antigens. It is characterized by tumor-like masses or nodules of granulomatous tissue comprised of activated histiocytes, epitheliod cells, and multinucleated giant cells. granulomatous dermatitis MONDO:0006556 Skin conditions characterised by dense infiltration of inflammatory cells (neutrophils) in the affected tissue. They arise in reaction to some underlying systemic illness. A neutrophilic dermatosis may be seen in isolation or more than one type may occur in the same individual. Editor note: TODO check definition hand dermatosis MONDO:0006557 A hemangioma arising from the subcutaneous soft tissues. angioma of subcutaneous tissue angioma of the subcutaneous tissue hemangioma of subcutaneous tissue hemangioma of superficial fascia hemangioma of the subcutaneous tissue subcutaneous angioma subcutaneous haemangioma subcutaneous hemangioma subcutaneous tissue angioma subcutaneous tissue hemangioma superficial fascia hemangioma hemangioma of subcutaneous tissue MONDO:0006558 A rare pregnancy-associated autoimmune skin disease that is characterised by an itchy rash that develops into blisters. It is most common during the second and third trimesters of pregnancy. It was previously known as herpes gestationis although it has no association with the herpes virus whatsoever. Herpes gestationis Herpes gestationis (disorder) Herpes gestationis NOS (disorder) Herpes gestationis unspecified (disorder) gestational herpes gestational pemphigoid pemphigoid gestationis pemphigus gestationis pemphigoid gestationis https://rarediseases.info.nih.gov/diseases/6497/pemphigoid-gestationis MONDO:0006559 A chronic suppurative and cicatricial disease of the apocrine glands occurring chiefly in the axillae in women and in the groin and anal regions in men. It is characterized by poral occlusion with secondary bacterial infection, evolving into abscesses which eventually rupture. As the disease becomes chronic, ulcers appear, sinus tracts enlarge, fistulas develop, and fibrosis and scarring become evident. acne inversa ectopic acne fox den disease hidradenitis suppurativa pyoderma fistulans significa verneuil disease acne inversa, familial hidradenitis suppurativa MONDO:0006561 Under-production of pigment in the eyelid. hypopigmentation of eyelid eyelid hypopigmentation MONDO:0006563 Seborrheic keratosis that arises from follicular structures in the skin. It presents as a solitary nodule in the skin and is characterized by the presence of prominent squamous eddies. inverted folicular keratosis inverted follicular keratosis inverted follicular keratosis MONDO:0006564 An inflammatory skin condition caused by direct contact between the skin and an irritating substance. It is typically manifested by erythema, mild edema, and scaling at the affected site. irritant contact dermatitis primary irritant dermatitis irritant dermatitis MONDO:0006565 Dermatitis herpetiformis in children juvenile dermatitis herpetiformis MONDO:0006566 A skin disorder consisting of hypertrophy of the stratum corneum of the skin. keratoderma keratosis MONDO:0006567 Encephalopathy in infants due to high levels of unconjugated bilirubin that are a result of Rh incompatibility between the mother and the fetus. kernicterus - due to isoimm. kernicterus due to isoimmunization of fetus or newborn kernicterus related to isoimmunization kernicterus due to isoimmunization MONDO:0006569 A nonspecific term used to denote any cutaneous lesion or group of lesions, or eruptions of any type on the leg. (From Stedman, 25th ed) leg dermatosis MONDO:0006570 A long-term skin condition that mainly affects the skin of the genitals. It usually causes itching and white patches to appear on the affected skin. lichen lichen condition lichen disease MONDO:0006571 A chronic inflammatory disease characterized by shiny, flat-topped, usually flesh-colored micropapules no larger than the head of a pin. Lesions are localized in the early stages, found chiefly on the lower abdomen, penis, and inner surface of the thighs. Distribution may become generalized as the disease progresses. Pinkus' disease lichen nitidus MONDO:0006572 A chronic, recurrent, pruritic inflammatory disorder of unknown etiology that affects the skin and mucus membranes. It presents with rashes and papules that tend to resolve spontaneously. It may be associated with hepatitis C. Certain drugs that contain arsenic or bismuth are associated with reactions mimicking lichen planus. lichen ruber planus lichen, ruber planus ruber planus lichen planus MONDO:0006573 A congenital or acquired disorder characterized by abnormal loss or redistribution of the adipose tissue in the body. lipodystrophy (disease) lipodsystrophic syndrome lipodsystrophic syndromes lipodystrophy lipodystrophy (disease) lipodystrophy MONDO:0006574 A neoplastic process characterized by diffuse overgrowth of mature adipose tissue. Launois-Bensaude syndrome Madelung disease Madelung's disease lipomatosis lipomatosis MONDO:0006576 Severe cellulitis of the submaxillary space with secondary involvement of the sublingual and submental space. It usually results from infection in the lower molar area or from a penetrating injury to the mouth floor. (From Dorland, 27th ed) Ludwig angina cellulitis (disease) of mouth floor cellulitis of floor of mouth mouth floor cellulitis (disease) Ludwig's angina MONDO:0006577 A rare, progressive, non-neoplastic pathologic process that arises from the maxillary sinus mucosal epithelium. It is characterized by the proliferation of keratinizing squamous epithelium and the formation of keratin sheets. It may lead to bone erosion and infections. Surgical removal is the appropriate treatment. cholesteatoma (disease) of maxillary sinus maxillary sinus cholesteatoma (disease) maxillary sinus cholesteatoma MONDO:0006578 A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the mediastinum. mediastinal lipomatosis mediastinal lipomatosis MONDO:0006579 A benign, darkly pigmented skin lesion characterized by proliferation of keratinocytes and melanocytes. melanoacanthoma MONDO:0006580 A small (one mm or less) vesicular, papular or pustular monomorphous rash, which is associated with heat, fever or occlusion of sweat glands. heat rash prickly heat miliaria MONDO:0006581 Miliaria rubraor prickly heat occurs deeper in the epidermis (outside layer of skin) and results in very itchy red papules (bumps). prickly heat - miliaria sudamina miliaria crystallina miliaria rubra MONDO:0006582 A benign, flat, congenital birthmark, with wavy borders and an irregular shape. The colour is caused by melanocytes, melanin-containing cells, that are usually located in the surface of the skin (the epidermis), but are in the deeper region (the dermis) in the location of the spot. Mongolian macula blue sacral spot congenital dermal melanocytosis mongolian spot MONDO:0006583 Necrobiosis lipoidica is a rare skin disorder of collagen degeneration. It is characterized by a rash that occurs on the lower legs. It is more common in women, and there are usually several spots. They are slightly raised shiny red-brown patches. The centers are often yellowish and may develop open sores that are slow to heal. Infections can occur but are uncommon. Some patients have itching, pain, or abnormal sensations. It usually occurs more often in people with diabetes, in people with a family history of diabetes or a tendency to get diabetes, but can occur in nondiabetic people. About 11% to 65% of patients with necrobiosis lipoidica also have diabetes, but the exact cause is still not known. Treatment is difficult. The disease is typically chronic with variable progression and scarring. necrobiosis lipoidica necrobiosis lipoidica diabeticorum (formerly) necrobiosis lipoidica https://rarediseases.info.nih.gov/diseases/13040/necrobiosis-lipoidica MONDO:0006585 Skin findings arising from repeated rubbing, picking or scratching of a real or imagined irritation of the skin. lichen simplex Chronicus neurodermatitis MONDO:0006586 A condition in which patients produce skin lesions through repetitive, compulsive excoriation of their skin. dermatitis artefacta dermatitis factitia dermatitis factitia [artefacta] dermatitis ficta factitious skin disease neurotic excoriation MONDO:0006589 Contact dermatitis associated with allergens or irritants found in the workplace. occupational allergic contact dermatitis occupational dermatitis occupational eczema occupational eczema (disorder) [ambiguous] occupational dermatitis MONDO:0006590 A group of autosomal dominant, autosomal recessive, X-linked inherited or acquired disorders characterized by the thickening of the palms and soles due to hyperkeratosis. keratosis palmaris et plantaris palmoplantar keratoderma keratoderma, palmoplantar palmoplantar keratosis MONDO:0006591 Inflammation of the subcutaneous adipose tissue. Subcutaneous adipose tissue Subcutaneous tissue inflammation of subcutaneous adipose tissue subcutaneous adipose tissue inflammation subcutis panniculitis MONDO:0006592 Parapsoriasis describes a group ofskin diseases that can be characterized by scaly patches or slightly elevated papules and/or plaques (red, scaly patches) that have a resemblance to psoriasis. However, this description includes several inflammatory cutaneous diseases that are unrelated with respect to pathogenesis, histopathology, and response to treatment. Because of the variation in clinical presentation and a lack of a specific diagnostic finding on histopathology, a uniformly accepted definition of parapsoriasis remains lacking. There are 2 general forms: a small plaque type, which is usually benign, and a large plaque type, which is a precursor of cutaneous T-cell lymphoma (CTCL).Treatment of small plaque parapsoriasis is unnecessary but can include emollients, topical tar preparations or corticosteroids, and/or phototherapy. Treatment of large plaque parapsoriasis is phototherapy or topical corticosteroids. digitate dermatosis parapsoriasis en plaque parapsoriasis https://rarediseases.info.nih.gov/diseases/7328/parapsoriasis MONDO:0006593 A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the pelvic region. Clinical presentation includes complaints of back and abdominal pain, urinary frequency, perineal pain and constipation. It predominately affects black males. pelvic lipomatosis pelvic lipomatosis (morphologic abnormality) Excess of mature unencapsulated fatty tissue in the pelvis pelvic lipomatosis https://rarediseases.info.nih.gov/diseases/7350/pelvic-lipomatosis MONDO:0006594 Pemphigus is a group of rare autoimmune diseases that cause blistering of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals).This conditioncan occur at any age, but often strikes people in middle or older age. Studies have shown that some populations may be at greater risk for certain types of pemphigus. For instance, people of Jewish descent and those from India, Southeast Europe, and the Middle East are at greater risk for pemphigus vulargis, while pemphigus foliaceus is more common in North America, Turkey, and South America. Pemphigus is a chronic disease which is best controlled by early diagnosis and treatment.Treatment includes steroids to reduce inflammation,drugs that suppress the immune system responseand antibiotics to treat associated infections. There are four main types of pemphigus: Pemphigus vulgaris Pemphigus foliaceus IgA pemphigus Paraneoplastic pemphigus pemphigus https://rarediseases.info.nih.gov/diseases/7352/pemphigus MONDO:0006595 Jaundice in perinates due to cellular damange of liver. perinatal jaundice due to hepatocellular damage MONDO:0006596 A delayed hypersensitivity involving the reaction between sunlight or other radiant energy source and a chemical substance to which the individual has been previously exposed and sensitized. It manifests as a papulovesicular, eczematous, or exudative dermatitis occurring chiefly on the light-exposed areas of the skin. photoallergic contact dermatitis photoallergic eczema photoallergic dermatitis MONDO:0006597 Abnormal responses to sunlight or artificial light due to extreme reactivity of light-absorbing molecules in tissues. It refers almost exclusively to skin photosensitivity, including sunburn, reactions due to repeated prolonged exposure in the absence of photosensitizing factors, and reactions requiring photosensitizing factors such as photosensitizing agents and certain diseases. With restricted reference to skin tissue, it does not include photosensitivity of the eye to light, as in photophobia or photosensitive epilepsy. disorder, photosensitivity disorders, photosensitivity photodermatitides photodermatitis photodermatosis photosensitivity disorder photosensitization photosensitivity disease MONDO:0006598 Dermatitis caused or precipitated by exposure to ultraviolet sunlight, or by mediating phototoxic or photoallergic material in response to ultraviolet sunlight. Photodermatitis Photosensitisation reaction photosensitive dermatitis photosensitiveness photosensitivity reaction phototoxic dermatitis MONDO:0006599 A distinct subgroup of the urticaria that are induced by an exogenous physical stimulus rather than occurring spontaneously. physical urticaria MONDO:0006601 A mild, self-limited skin disorder that is most commonly seen in children and young adults. It is characterized by an initial large round spot on the chest, abdomen, or back, often referred to as a herald patch, that is usually followed within a week by a distinctive pattern of similar but smaller papules on the torso, arms, and legs. There may also be itching, especially when overheated. Pityriasis circinata Pityriasis rosea pityriasis rosea MONDO:0006602 A clonal proliferation of abnormal keratinocytes characterized by the development of localized or multiple atrophic skin patches surrounded by an annular keratotic ring called cornoid lamella. porokeratosis (disease) porokeratosis porokeratosis (disease) porokeratosis MONDO:0006603 A benign, epidermal skin lesion characterized by overexpression of collagen during wound healing. reactive cutaneous fibrous lesion MONDO:0006604 A chronic erythematous skin disorder that affects the face. It is characterized by the development of redness in the cheeks, nose, and/or forehead and telangiectasia. Sometimes, the erythematous changes may involve the eyelids. acne rosacea acne roscea acne, erythematosa rosacea MONDO:0006605 Dermotosis of scalp dermatosis of scalp scalp dermatosis MONDO:0006606 A usually benign and self-limited skin disorder of unknown etiology, characterized by induration of the skin. It may be associated with infection, diabetes mellitus, and hematologic malignancies. Morphologically, there is deposition of mucin in the dermis. https://github.com/monarch-initiative/mondo/issues/3847 Buschke scleredema Buschke's scleredema Buschkes scleredema Diabeticorum, scleredema Diabeticorums, scleredema scleredema scleredema Diabeticorum scleredema Diabeticorum of Buschke scleredema Diabeticorums scleredema adultorum scleredema adultorum of Buschke scleredema, Buschke's scleredemas Buschke scleredema Diabeticorum Buschke scleredema adultorum scleredema adultorum MONDO:0006607 A disease involving the sebaceous gland. disease of sebaceous gland disease or disorder of sebaceous gland disorder of sebaceous gland sebaceous gland disease sebaceous gland disease or disorder disease of sebaceous glands sebaceous gland disorder MONDO:0006608 A chronic, inflammatory skin disorder that affects the scalp, central face and skin folds; it is characterized by scaling and itching. seborrheic dermatitis (disease) Seborrhoeic dermatitis Seborrhoeic eczema cradle Cap seborrhea seborrheic dermatitis seborrheic dermatitis (disease) seborrheic eczema skin seborrheic seborrheic dermatitis MONDO:0006609 Excessive shedding of dry scaly material from the scalp in humans. Seborrhoea capitis Seborrhoeic dermatitis of scalp Seborrhoeic eczema of scalp complement 5 dysfunction cradle cap generalized seborrheic dermatitis of infants infantile seborrheic dermatitis infantile seborrhoeic dermatitis scalp seborrheic dermatitis (disease) seborrhea capitis seborrhea sicca seborrheic dermatitis (disease) of scalp pityriasis capitis seborrheic infantile dermatitis MONDO:0006610 The degeneration and thinning of the epidermis and dermis. It is usually a manifestation of aging. atrophic condition of skin atrophic skin atrophoderma atrophy - skin atrophy of skin skin atrophy MONDO:0006611 Formation of non-necrotizing granulomas in the skin. It may be a manifestation of systemic sarcoidosis or may also arise in isolation. cutaneous sarcoid cutaneous sarcoidosis sarcoidosis of zone of skin zone of skin sarcoidosis skin sarcoidosis MONDO:0006612 A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the face, upper middle back, and sternal region. It is associated with adrenocortical steroid therapy or an increase in endogenous adrenocortical hormone. steroid lipomatosis steroid lipomatosis MONDO:0006613 Stromal pigmentation such as that in ochronosis results from chronic irritation. The melanin is in the superficial stroma and the basal layer of the corneal epithelium. stromal corneal pigmentations stromal corneal pigmentation MONDO:0006614 A rare, benign, chronic disease characterized by sterile pustular eruption, typically involving the flexural sites of the trunk and proximal extremities. Sneddon-Wilkinson disease Sneddon-Wilkinson disease or syndrome pustulosis subcornealis subcorneal pustular dermatitis subcorneal pustular dermatosis subcorneal pustular dermatosis MONDO:0006615 A disease involving the sweat gland. disease of sweat gland disease or disorder of sweat gland disorder of sweat gland sweat gland disease sweat gland disease or disorder disease of sweat glands disorder of sweat glands sweat gland disorder MONDO:0006616 An allergic contact dermatitis caused by exposure to plants of the genus Toxicodendron (formerly Rhus). These include poison ivy, poison oak, and poison sumac, all plants that contain the substance urushiol, a potent skin sensitizing agent. (From Dorland, 27th ed) Rhus dermatitis contact dermatitis due to genus Toxicodendron toxicodendron dermatitis MONDO:0006617 Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990) vesiculobullous skin disease Sneddon Wilkinson disease Sneddon-Wilkinson disease skin diseases, vesicular subcorneal pustular dermatoses subcorneal pustular dermatosis bullous dermatoses bullous skin disease bullous skin diseases dermatoses, bullous dermatoses, subcorneal pustular dermatoses, vesiculobullous dermatosis, subcorneal pustular pustular dermatoses, subcorneal pustular dermatosis, subcorneal skin disease, bullous skin disease, vesicular skin disease, vesiculobullous skin diseases, bullous vesicular skin disease vesicular skin diseases vesiculobullous dermatoses vesiculobullous skin diseases vesiculobullous skin disease MONDO:0006618 This very rare form of angioedema develops in reply to contact with vibration. In vibratory angioedema, symptoms develop within two to five minutes after contact with vibration and dissolve after about an hour. Patients with this disorder do not suffer from dermographism or pressure urticaria. Vibratory angioedema is diagnosed by holding a vibrating device such as a laboratory vortex machine against the forearm for four minutes. Speedy swelling of the whole forearm extending into the upper arm is also noted later. The principal treatment is avoidance of vibratory stimulants. Antihistamines have also been proven helpful. Editor note: TODO add ECTO vibratory urticaria MONDO:0006619 A virus-induced exanthem viral exanthem MONDO:0006620 A polypoid lesion that arises from the vulva and is characterized by the presence of fibrovascular stroma lined by squamous epithelium. There is no evidence of epithelial atypia. fibroepithelial polyp of the vulva fibroepithelial polyp of vulva mammalian vulva skin tag skin tag of mammalian vulva vulval fibroepithelial polyp vulvar fibroepithelial polyp vulvar fibroepithelial stromal polyp vulva fibroepithelial polyp MONDO:0006621 Seborrheic keratosis that arises from follicular structures in the vulva. It is characterized by the presence of prominent squamous eddies. inverted follicular keratosis of mammalian vulva mammalian vulva inverted follicular keratosis vulvar inverted follicular keratosis MONDO:0006622 A benign squamous neoplasm that arises from the vulva. It is characterized by the proliferation of the basal cells in the squamous epithelium, acanthosis, hyperkeratosis, and cysts formation. mammalian vulva seborrheic keratosis seborrheic keratosis of mammalian vulva seborrheic keratosis of the vulva seborrheic keratosis of vulva vulvar seborrheic keratosis MONDO:0006624 Symptom of overactive detrusor muscle of the urinary bladder that contracts with abnormally high frequency and urgency. Overactive bladder is characterized by the frequent feeling of needing to urinate during the day, during the night, or both. urinary incontinence may or may not be present. overactive bladder (disease) overactive bladder overactive bladder (disease) overactive bladder MONDO:0006625 Multiple symptoms associated with reduced oxygen at high altitude. altitude sickness MONDO:0006626 A chronic, pathological complication associated with diabetes mellitus, where nerve damages are incurred due to diabetic microvascular injury involving small blood vessels that supply these nerves, resulting in peripheral and/or autonomic nerve dysfunction. diabetic neuropathy MONDO:0006629 Noninflammatory degenerative disease of the hip joint which usually appears in late middle or old age. It is characterized by growth or maturational disturbances in the femoral neck and head, as well as acetabular dysplasia. A dominant symptom is pain on weight-bearing or motion. hip osteoarthritis osteoarthritis, hip MONDO:0006630 A degenerative joint disease involving the spine. It is characterized by progressive deterioration of the spinal articular cartilage (cartilage, articular), usually with hardening of the subchondral bone and outgrowth of bone spurs (osteophyte). osteoarthritis, spine MONDO:0006631 Osteoarthritis of the foot generally affects the joint at the base of your big toe. It can cause your toe to: - become stiff over time, which can make it difficult and painful to walk – this is called hallux rigidus - become bent, which can lead to painful bunions (bony lumps at the base of your big toe) – this is called hallux valgus. Osteoarthritis of the mid-foot is also quite common, especially in older people, and may cause an obvious bony swelling (osteophyte) on the top of your mid-foot. Ankle osteoarthritis is least common and may cause your heel to move to an unusual angle. osteoarthritis, toe MONDO:0006632 Osteoarthritis of the hands usually happens as part of nodal osteoarthritis (a form of osteoarthritis that runs in families). This mainly affects women and often starts in your 40s or 50s, around the menopause (the time when menstruation ends and it’s no longer possible to have children). osteoarthritis, hand MONDO:0006633 Inflammation of the gallbladder in the absence of gallstones. acute cholecystitis without calculus cholecystitis without calculus acute acalculous cholecystitis acalculous cholecystitis MONDO:0006634 An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with acidic dyes. acidophil adenoma eosinophil adenoma pituitary gland acidophil adenoma pituitary gland acidophil adenoma MONDO:0006635 Infections with bacteria of the genus acinetobacter. Acinetobacter caused disease or disorder Acinetobacter disease or disorder Acinetobacter infection Mimae infection Mimae infections infection, Acinetobacter infection, Mimae infections, Acinetobacter infections, Mimae Acinetobacter infectious disease MONDO:0006636 Infections with bacteria of the genus actinobacillus. Actinobacillus caused disease or disorder Actinobacillus disease or disorder Actinobacillus infection infection, Actinobacillus infections, Actinobacillus Actinobacillus infectious disease MONDO:0006637 Acute renal failure caused by the cell death of the renal tubules. Causes include nephrotoxins, cytotoxic drugs, and antibiotics. ATN - acute tubular necrosis acute renal failure with lesion of tubular necrosis acute renal failure with tubular necrosis acute tubular necrosis acute tubule necrosis acute kidney tubular necrosis MONDO:0006638 Mild to fulminant necrotizing vaso-occlusive retinitis associated with a high incidence of retinal detachment and poor vision outcome. acute retinal necrosis acute retinal necrosis syndrome MONDO:0006639 A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival. adrenal cortex cancer adrenal cortical tumors adrenocortical cancer cancer of the adrenal cortex malignant adrenocortical tumor malignant neoplasm of adrenal cortex malignant tumour of adrenal cortex ACC adenocarcinoma, adrenocortical, malignant adrenal cortex adenocarcinoma adrenal cortex carcinoma adrenal cortical adenocarcinoma adrenal cortical carcinoma adrenal cortical carcinoma (morphologic abnormality) adrenocortical carcinoma adrenocortical carcinoma (disease) carcinoma of adrenal cortex carcinoma of the adrenal cortex carcinoma, adrenocortical, malignant cortical cell carcinoma adrenal cortex carcinoma MONDO:0006640 Excess production of adrenal cortex hormones. https://github.com/monarch-initiative/mondo/issues/3376 adrenal gland hyperfunction adrenocortical hyperfunction hyperadrenalism hypercortisolemia hypercortisolism disorder of corticoadrenal overactivity hyperadrenocorticism hypercorticism hyperfunction, adrenal gland hyperfunction, adrenocortical adrenal gland hyperfunction MONDO:0006641 A complication of gastrojejunostomy (billroth II procedure), a reconstructive gastroenterostomy. It is caused by acute (complete) or chronic (intermittent) obstruction of the afferent jejunal loop due to hernia, intussusception, kinking, volvulus, etc. It is characterized by pain and vomiting of bile-stained fluid. afferent loop syndrome MONDO:0006642 An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include confusion; delusions; vivid hallucinations; tremor; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens. (From Adams et al., Principles of Neurology, 6th ed, p1175) alcohol withdrawal associated autonomic hyperactivity alcohol withdrawal hallucinosis alcohol withdrawal induced delirium Tremens alcohol withdrawal-induced delirium Tremens autonomic hyperactivity, alcohol withdrawal associated delirium Tremens delirium Tremens, alcohol withdrawal induced delirium, alcohol withdrawal hallucinosis, alcohol withdrawal alcohol withdrawal delirium MONDO:0006643 A dilated cardiomyopathy which is associated with consumption of large amounts of alcohol over a period of years. alcohol-induced heart muscle disease alcoholic cardiomyopathy dilated cardiomyopathy secondary to alcohol alcoholic cardiomyopathy MONDO:0006644 A disorder of the liver characterized by the presence of fibrotic scar tissue instead of healthy liver tissue. This condition is attributed to excessive consumption of alcoholic beverages. Laennec's cirrhosis Laennec's cirrhosis, alcoholic alcoholic cirrhosis alcoholic cirrhosis of liver portal cirrhosis alcoholic liver cirrhosis MONDO:0006645 Any disease affecting more than one nerve. alcohol-related polyneuropathy alcoholic neuropathy alcoholic polyneuropathy MONDO:0006646 A benign, slow-growing neoplasm that arises from the dermis or subcutaneous tissue. It is characterized by the presence of well-differentiated smooth muscle cells which are arranged around numerous vessels. angioleiomyoma angiomyoma angiomyoma (morphologic abnormality) vascular leiomyoma angioleiomyoma MONDO:0006647 Necrosis occurring in the anterior cerebral artery system, including branches such as Heubner's artery. These arteries supply blood to the medial and superior parts of the cerebral hemisphere, Infarction in the anterior cerebral artery usually results in sensory and motor impairment in the lower body. anterior cerebral artery infarction MONDO:0006648 Rapid swelling, increased tension, pain, and ischemic necrosis of the muscles of the anterior tibial compartment of the leg, often following excessive physical exertion. anterior compartment syndrome anterior compartment syndrome MONDO:0006649 Anterior ischemic optic neuropathy (AION) is an eye disease characterized by infarction of the optic disk leading to vision loss. It can be nonarteritic (nonarteritic anterior ischemic optic neuropathy or NAION) or arteritic, the latter being associated with giant cell arteritis (GCA; often termed temporal arteritis). Vision loss with both varieties is typically rapid (over minutes, hours, or days) and painless. Symptoms such as a general feeling of being unwell (malaise), muscle aches and pains, headaches over the temple, pain when combing hair, pain in the jaw after chewing, and tenderness over the temporal artery (one of the major arteries of the head) may be present with giant cell arteritis. At exam, visual acuity is reduced and the optic disc is swollen. In both subtypes, visual field examination is often reduced in the inferior and central visual fields. The visual loss is usually permanent, with some recovery possibly occurring within the first weeks or months. The arteritic variety is treated with corticosteroids. Treatment of the nonarteritic variety withaspirinor corticosteroids has not been helpful. ischemic optic neuropathy aion optic disc infarction leading to vision loss anterior ischemic optic neuropathy https://rarediseases.info.nih.gov/diseases/9790/anterior-ischemic-optic-neuropathy MONDO:0006650 Ischemia or infarction of the spinal cord in the distribution of the anterior spinal artery, which supplies the ventral two-thirds of the spinal cord. This condition is usually associated with atherosclerosis of the aorta and may result from dissection of an aortic aneurysm or rarely dissection of the anterior spinal artery. Clinical features include weakness and loss of pain and temperature sensation below the level of injury, with relative sparing of position and vibratory sensation. (From Adams et al., Principles of Neurology, 6th ed, pp1249-50) anterior spinal artery syndromic disease syndromic disease of anterior spinal artery anterior spinal artery syndrome MONDO:0006651 Inflammation of the iris and anterior chamber of the eye. anterior uveitis (disease) anterior uveitis anterior uveitis (disease) iridocyclitis anterior uveitis MONDO:0006652 Myocardial infarction in which the anterior wall of the heart is involved. Anterior wall myocardial infarction is often caused by occlusion of the left anterior descending coronary artery. It can be categorized as anteroseptal or anterolateral wall myocardial infarction. anterolateral myocardial infarction acute anterior wall myocardial infarction anterolateral myocardial infarctions anteroseptal myocardial infarction anteroseptal myocardial infarctions infarction, anterolateral myocardial infarction, anteroseptal myocardial infarctions, anterolateral myocardial infarctions, anteroseptal myocardial myocardial infarction, anterior wall myocardial infarction, anterolateral myocardial infarction, anteroseptal myocardial infarctions, anterolateral myocardial infarctions, anteroseptal Editor note: todo - create uberon class anterolateral myocardial infarction MONDO:0006653 Fibrosis of the lung parenchyma caused by inhalation of carbon and silica dust. It manifests as shortness of breath. anthracosilicosis MONDO:0006654 A chronic lung disorder characterized by deposition of coal dust in the lung parenchyma leading to the formation of black nodules and emphysema. It occurs in coal miners. black lung coal dust pneumoconiosis coal miner's pneumoconiosis coal workers' lung coal workers' pneumoconiosis melanoedema pneumoconiosis from coal dust anthracosis MONDO:0006655 The downward displacement of the cuspal or pointed end of the trileaflet aortic valve causing misalignment of the cusps. Severe valve distortion can cause leakage and allow the backflow of blood from the ascending aorta back into the left ventricle, leading to aortic regurgitation. aortic valve prolapse MONDO:0006656 Inflammation of the aorta. Causes include trauma, infectious disorders, and connective tissue disorders. aorta inflammation inflammation of aorta aortitis MONDO:0006658 The thickening of the wall of the small arteries and arterioles. It is caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy. It results in lumen narrowing and tissue ischemia. arteriolosclerosis (morphologic abnormality) arteriolosclerosis MONDO:0006659 Common occlusive arterial disease which is caused by atherosclerosis. It is characterized by lesions in the innermost layer (arterial intima) of arteries including the aorta and its branches to the extremities. Risk factors include smoking, hyperlipidemia, and hypertension. arteriosclerosis obliterans (disorder) [ambiguous] arteriosclerosis obliterans MONDO:0006660 A localized vasculitis resulting from deposition of antibody-antigen complexes. arthus phenomenon arthus reaction arthus reaction (function) arthus type urticaria Editor note: DO classifies as type III, NCIT as type I arthus reaction MONDO:0006662 Inflammation of the membranes surrounding the brain and spinal cord without a bacterial pathogen. acute aseptic meningitis aseptic meningitis aseptic meningitis MONDO:0006663 A disorder caused by a lack of blood flow or gas exchange to or from the fetus in the period immediately before, during, or after the birth process. HIE asphyxia - birth asphyxia neonatorum asphyxia, in liveborn infant birth asphyxia birth depression fetal asphyxia hypoxia neonatorum hypoxic-ischemic encephalopathy intrapartum asphyxia perinatal asphyxia perinatal depression perinatal hypoxia postnatal asphyxia hypoxic and ischemic brain injury in the newborn neonatal hypoxic and ischemic brain injury Pathophysiology: There are three stages to brain injury in hypoxic-ischemic encephalopathy. First, there is an immediate primary neuronal injury that occurs due to interruption of oxygen and glucose to the brain. This decreases ATP and results in failure of the ATP-dependent NaK pump. Sodium enters the cell followed by water, causing cell swelling, widespread depolarization, and cell death. Cell death and lysis cause release of glutamate, an excitatory amino acid, which causes an increase in intracellular calcium and further cell death. Following the immediate injury is a latent period of about six hours, during which reperfusion occurs, and some cells recover. Late secondary neuronal injury occurs over the next 24-48 hours as reperfusion results in blood flow to and from damaged areas, spreading toxic neurotransmitters and widening the area of brain affected.[NBK430782] perinatal asphyxia https://rarediseases.info.nih.gov/diseases/5857/asphyxia-neonatorum MONDO:0006664 Interauricular communication is a congenital malformation characterized by a communication between the atrial chambers of the heart. ASD atrial septal defect atrial septum defect atrioseptal defect auricular septal defect congenital atrial septal defect interatrial septal defect interauricular communication interauricular septal defect interatrial communication atrial septal defect MONDO:0006665 Atrophic gastritis that is persistent and long-standing. Gastritides, atrophic atrophic Gastritides atrophic gastritis gastric atrophy chronic atrophic gastritis MONDO:0006666 Tissue degeneration and diminished size of the thyroid gland. thyroid atrophy thyroid gland atrophy atrophy of thyroid MONDO:0006668 Inflammation of the conjunctiva caused by a variety of bacterial agents. Bacteria caused conjunctival disease Bacteria conjunctival disease purulent conjunctivitis bacterial conjunctivitis MONDO:0006669 Endocarditis that is caused by an infection with a bacterial agent. bacterial endocarditis (disease) Bacteria caused endocarditis (disease) Bacteria endocarditis (disease) bacterial endocarditis bacterial endocarditis (disease) bacterial endocarditis MONDO:0006670 Inflammation of the membranes surrounding the brain and spinal cord due to a bacterial infection. Bacteria caused infectious meningitis Bacteria infectious meningitis meningitis, bacterial bacterial meningitis https://rarediseases.info.nih.gov/diseases/5881/bacterial-meningitis MONDO:0006671 Infections with bacteria of the genus bacteroides. Bacteroides caused disease or disorder Bacteroides disease or disorder infection due to Bacteroides Bacteroides infection infection caused by Bacteroides infection, Bacteroides infections, Bacteroides Bacteroides infectious disease MONDO:0006672 An infectious or non-infectious inflammatory process that affects the glans penis. Symptoms include redness and pain of the glans penis and foreskin and discharge. balanitis glans penis inflammation inflammation of glans penis balanitis MONDO:0006673 An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with basic dyes. basophilic adenoma basophilic pituitary gland adenoma mucoid cell adenoma pituitary basophilic adenoma pituitary gland basophilic adenoma basophil adenoma pituitary gland basophil adenoma MONDO:0006676 Beriberi is a condition that occurs in people who are deficient in thiamine (vitamin B1). There are two major types of beriberi: wet beriberi which affects the cardiovascular system and dry beriberi which affects the nervous system. People with wet beriberi may experience increased heart rate, shortness of breath, and swelling of the lower legs. Signs and symptoms of dry beriberi include difficulty walking; loss of feeling in the hands and/or feet; paralysis of the lower legs; mental confusion; speech difficulty; pain; and/or vomiting. Beriberi is rare in the United States since many foods are now vitamin enriched; however, alcohol abuse, dialysis and taking high doses of diuretics increases the risk of developing the condition. In most cases,beriberi occurs sporadically in people with no family history of the condition. A rare condition known as genetic beriberi is inherited (passed down through families) and is associated with an inability to absorb thiamine from foods. Treatment generally includes thiamine supplementation, given by injection or taken by mouth. Beri Beri thiamine deficiency vitamin B1 deficiency Editor note: check if beriberi should be made a subclass of TD beriberi https://rarediseases.info.nih.gov/diseases/9948/beriberi MONDO:0006677 Retrograde bile flow. Reflux of bile can be from the duodenum to the stomach (duodenogastric reflux); to the esophagus (gastroesophageal reflux); or to the pancreas. bile reflux MONDO:0006678 A concretion in the urinary bladder. bladder calculus MONDO:0006679 Blockage of the opening between the bladder and the urethra resulting in the reduction or prevention of the urine flow from the bladder into the urethra. obstruction of bladder neck or vesicourethral orifice bladder neck obstruction MONDO:0006680 An intradermal nevus characterized by the presence of benign pigmented dendritic spindle-shaped melanocytes. It most frequently occurs in the skin of the distal upper extremities, followed by the lower extremities, scalp, face, and buttocks. It usually presents as a single blue or blue-black papular lesion less than 1cm in diameter. Simple excision is usually curative. blue Nevus of skin blue Nevus of the skin blue nevus blue skin Nevus Jadassohn-TiC(che nevus Jadassohn-TiC(che syndrome Jadassohn-Tièche nevus Jadassohn-Tièche syndrome Tièche-Jadassohn nevus benign mesenchymal melanoma blue neuronevus blue nevus MONDO:0006681 Infections with bacteria of the genus borrelia. Borrelia caused disease or disorder Borrelia disease or disorder Borrelia infectious disease MONDO:0006682 An inflammatory process affecting the brachial plexus. It results in severe pain in the upper extremity and shoulder, upper arm weakness and loss of sensation in the upper arm. brachial nerve plexus neuritis brachial neuritis neuritis of brachial nerve plexus parsonage-Aldren-Turner syndrome acute brachial neuritis acute brachial neuritis syndrome acute brachial radiculitis syndrome acute shoulder neuritis idiopathic neuralgic amyotrophy parsonage Turner syndrome brachial plexus neuritis MONDO:0006683 A brachial plexus disorder characterized by regional paresthesia, pain and muscle weakness, and limited movement in the arm or hand. brachial nerve plexus peripheral neuropathy brachial plexopathy brachial plexus disorder peripheral neuropathy of brachial nerve plexus brachial plexus neuropathy MONDO:0006684 Increased intracellular or extracellular fluid in brain tissue. Cytotoxic brain edema (swelling due to increased intracellular fluid) is indicative of a disturbance in cell metabolism, and is commonly associated with hypoxic or ischemic injuries (see hypoxia, brain). An increase in extracellular fluid may be caused by increased brain capillary permeability (vasogenic edema), an osmotic gradient, local blockages in interstitial fluid pathways, or by obstruction of csf flow (e.g., obstructive hydrocephalus). (From Childs Nerv Syst 1992 Sep; 8(6):301-6) intracranial swelling wet brain brain edema MONDO:0006685 A disorder characterized by a reduction of oxygen in the blood combined with reduced blood flow (ischemia) to the brain from a localized obstruction of a cerebral artery or from systemic hypoperfusion. Prolonged hypoxia-ischemia is associated with ischemic attack, transient; brain infarction; brain edema; coma; and other conditions. brain hypoxia - ischemia MONDO:0006686 Infarctions that occur in the brain stem which is comprised of the midbrain; pons; and medulla oblongata. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury. brain infarction of brainstem brainstem brain infarction brainstem infarction brain stem infarction MONDO:0006687 A condition characterized by a burning or tingling sensation on the lips, tongue, or entire mouth. BMS Orodynia Stomatopyrosis oral dysesthesia stomatodynia burning mouth syndrome MONDO:0006688 An occupational lung disorder caused by exposure to cotton dust. It occurs more commonly in workers in the textile industry. Signs and symptoms include chest tightness, cough and wheezing. The symptoms tend to get worse at the beginning of the week and subside by the end of the week. cotton dust pneumoconiosis cotton mill fever flax-dressers' disease pneumoconiosis from cotton dust stripper's asthma textile worker's lung Monday morning fever byssinosis https://rarediseases.info.nih.gov/diseases/5976/byssinosis MONDO:0006690 Blood clot formation in any part of the carotid arteries. This may produce carotid stenosis or occlusion of the vessel, leading to transient ischemic attack; cerebral infarction; or amaurosis fugax. carotid artery thrombosis carotid artery thrombosis MONDO:0006692 A central nervous system disorder caused by demyelination within the central basis pontis of the brain. It is characterized by spastic quadriplegia, pseudobulbar palsy and encephalopathy. It is observed in patients with severe hyponatremia, particularly when the hyponatremia is corrected too rapidly. osmotic demyelination syndrome central pontine myelinolysis MONDO:0006693 Pathological conditions of intracranial arteries supplying the cerebrum. These diseases often are due to abnormalities or pathological processes in the anterior cerebral artery; middle cerebral artery; and posterior cerebral artery. cerebral arterial disease MONDO:0006694 Atherosclerosis of the cerebral vasculature. cerebral atherosclerosis cerebral atherosclerosis MONDO:0006696 Loss or destruction of the epithelial lining of the uterine cervix. erosion of cervix cervix erosion MONDO:0006698 Single or multiple, ovoid or irregular, solid particles that are formed from bile, cholesterol, and calcium in the gallbladder cavity. cholecystolithiasis MONDO:0006699 Presence or formation of gallstones in the common bile duct. choledocholithiasis MONDO:0006700 A malignant neoplasm involving the optic choroid. choroid neoplasm choroidal tumor cancer of optic choroid malignant choroid neoplasm malignant choroid tumor malignant neoplasm of choroid malignant neoplasm of optic choroid malignant neoplasm of the choroid malignant optic choroid neoplasm malignant tumor of choroid malignant tumor of the choroid optic choroid cancer choroid cancer MONDO:0006701 An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells do not stain with acidic or basic dyes. chromophobe adenoma of pituitary gland chromophobe adenoma of the pituitary gland pituitary chromophobe adenoma pituitary gland chromophobe adenoma chromophobe adenoma MONDO:0006702 A rare neurological disorder in which there is inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) over the nerves. This affects how fast the nerve signals are transmitted and leads to loss of nerve fibers. This causes weakness, paralysis and/or impairment in motor function, especially of the arms and legs (limbs). Sensory disturbance may also be present. The motor and sensory impairments usually affect both sides of the body (symmetrical), and the degree of severity and the course of disease may vary from case to case. Some affected individuals may follow a slow steady pattern of symptoms while others may have symptoms that stabilize and then relapse. https://github.com/monarch-initiative/mondo/issues/2760 https://github.com/monarch-initiative/mondo/issues/3697 https://orcid.org/0000-0001-5208-3432 CIDP chronic inflammatory demyelinating polyradiculoneuropathy chronic relapsing polyneuropathy chronic inflammatory demyelinating polyradiculoneuropathy MONDO:0006704 Conditions characterized by loss or dysfunction of myelin (see myelin sheath) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or oligodendroglia associated autoantigens. CNS demyelinating autoimmune disease MONDO:0006705 Infections with bacteria of the family BACTEROIDACEAE. Bacteroidaceae caused disease or disorder Bacteroidaceae disease or disorder Bacteroidaceae infection infection, Bacteroidaceae infections, Bacteroidaceae Bacteroidaceae infectious disease MONDO:0006706 Infections with BACTERIA of the order Bifidobacteriales. This includes infections in the genera BIFIDOBACTERIUM and GARDNERELLA, in the family Bifidobacteriaceae. Bifidobacteriales caused disease or disorder Bifidobacteriales disease or disorder Bifidobacteriales infection infection, Bifidobacteriales infections, Bifidobacteriales Bifidobacteriales infectious disease MONDO:0006708 Infections with bacteria of the family Desulfovibrionaceae. Desulfovibrionaceae caused disease or disorder Desulfovibrionaceae disease or disorder Bilophila infection Bilophila infections Desulfovibrio infection Desulfovibrio infections Desulfovibrionaceae infection Lawsonia infection Lawsonia infections commensal Bilophila infection infection, Bilophila infection, Desulfovibrio infection, Desulfovibrionaceae infection, Lawsonia infections, Bilophila infections, Desulfovibrio infections, Desulfovibrionaceae infections, Lawsonia Desulfovibrionaceae infectious disease MONDO:0006709 Tumor or cancer of the common bile duct including the ampulla of vater and the sphincter of oddi. common bile duct neoplasm (disease) common bile duct tumor neoplasm of common bile duct tumor of common bile duct common bile duct neoplasm MONDO:0006710 A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and automatism may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy). (From Adams et al., Principles of Neurology, 6th ed, pp317-8) Complex partial epileptic seizure epilepsy, psychomotor psychomotor epilepsy complex partial epilepsy MONDO:0006711 A heart disorder in which the pericardial sac becomes thickened and fibrotic, tightening the myocardium and impeding the normal myocardial function. constrictive pericarditis (disease) constrictive pericarditis constrictive pericarditis (disease) constrictive pericarditis MONDO:0006712 Hazy, swollen cornea. corneal oedema corneal edema MONDO:0006713 New blood vessels originating from the corneal veins and extending from the limbus into the adjacent corneal stroma. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as trachoma, viral interstitial keratitis, microbial keratoconjunctivitis, and the immune response elicited by corneal transplantation. corneal neovascularization MONDO:0006714 Abnormal balloon- or sac-like dilatation in the wall of coronary vessels. Most coronary aneurysms are due to coronary atherosclerosis, and the rest are due to inflammatory diseases, such as kawasaki disease. aneurysm of coronary vessels aneurysmal lesion of coronary artery arteriovenous aneurysm of coronary vessels coronary artery aneurysm coronary aneurysm MONDO:0006715 Narrowing of the coronary artery lumen diameter. coronary artery stenosis coronary stenosis MONDO:0006716 Coagulation of blood in any of the coronary vessels. The presence of a blood clot (thrombus) often leads to myocardial infarction. coronary artery thrombosis coronary vessel thrombotic disease thrombotic disease of coronary vessel coronary thrombosis MONDO:0006717 A benign, intermediate, or malignant mesenchymal neoplasm composed of fibrohistiocytic cells, spindle fibroblastic cells, and histiocytes, in a storiform pattern. benign cutaneous fibrous histiocytoma benign fibrous cutaneous histiocytoma benign fibrous histiocytoma of skin benign fibrous histiocytoma of the skin benign skin fibrous histiocytoma cutaneous fibrous histiocytoma dermatofibroma dermatofibroma, no ICD-O subtype dermatofibroma, no ICD-O subtype (morphologic abnormality) fibrohistiocytic neoplasm fibrohistiocytic tumor fibrous histiocytoma of skin fibrous histiocytoma of the skin fibrous xanthoma of skin pleomorphic fibroma sclerosing angioma sclerosing angioma (morphologic abnormality) sclerosing angioma of skin DF cutaneous fibrous histiocytoma MONDO:0006718 Cutaneous lesions arising from infection with Treponema pallidum. In the primary stage, 18-21 days following infection, one or more chancres appear. If untreated, the subsequent stages of the disease appear as syphilids. These eruptions are superficial, nondestructive, exanthematic, transient, macular roseolas that may later be maculopapular or papular polymorphous or scaly, pustular, pigmented eruptions.(Arnold, Odom, and James, Andrew's Diseases of the Skin, 8th ed, p409) Treponema pallidum caused skin disease caused by bacterial infection Treponema pallidum skin disease caused by bacterial infection cutaneous syphilis MONDO:0006720 Neoplasms containing cyst-like formations or producing mucin or serum. cystic, mucinous, and serous neoplasm MONDO:0006721 Stenosing tenosynovitis of the abductor pollicis longus and extensor pollicis brevis tendons in the first dorsal wrist compartment. The presenting symptoms are usually pain and tenderness at the radial styloid. The cause is almost always related to overuse injury or is associated with rheumatoid arthritis. radial styloid tenosynovitis tenosynovitis, de Quervain's de Quervain disease MONDO:0006722 A condition that results from excessive fluoride ingestion during tooth development, resulting in tooth discoloration ranging from white streaks to brown stains and cracks or pits in the tooth enamel. fluorosis intrinsic enamel discolouration of fluorosis mottled teeth mottling of enamel dental fluorosis MONDO:0006723 Inflammation of the mouth due to denture irritation. denture sore mouth denture stomatitis MONDO:0006726 A congenital or acquired abnormality characterized by elevation of the hemidiaphragm. diaphragmatic eventration (disease) diaphragmatic eventration diaphragmatic eventration (disease) diaphragmatic eventration MONDO:0006727 Heart failure caused by abnormal myocardial relaxation during diastole leading to defective cardiac filling. diastolic heart failure MONDO:0006729 A type of constriction that is caused by the presence of a fibrous ring (discrete type) below the aortic valve, anywhere between the aortic valve and the mitral valve. It is characterized by restricted outflow from the left ventricle into the aorta. discrete subaortic stenosis MONDO:0006730 Psychotic organic mental disorders resulting from the toxic effect of drugs and chemicals or other harmful substance. drug-induced psychosis drug-induced psychotic disorder drug psychosis MONDO:0006731 An uncomfortable feeling of inner restlessness and inability to stay still. It can be a side effect of psychotropic medications. drug-induced akathisia MONDO:0006732 Abnormal movements, including hyperkinesis; hypokinesia; tremor; and dystonia, associated with the use of certain medications or drugs. Muscles of the face, trunk, neck, and extremities are most commonly affected. Tardive dyskinesia refers to abnormal hyperkinetic movements of the muscles of the face, tongue, and neck associated with the use of neuroleptic agents (see antipsychotic agents). (Adams et al., Principles of Neurology, 6th ed, p1199) drug-induced dyskinesia MONDO:0006733 A syndrome characterized by dryness of the cornea and conjunctiva. It is usually caused by a deficiency in tear production. Symptoms include a feeling of burning eyes and a possible foreign body presence in the eye. KCS dry eye dry eye syndrome dry eye(s) eye(s), dry keratoconjunctivitis sicca sicca, keratoconjunctivitis tear film insufficiency dry eye syndrome MONDO:0006734 A non-metastasizing neoplasm arising from the wall of the duodenum. neoplasm of the duodenum benign duodenal neoplasm benign duodenal tumor benign neoplasm of duodenum benign neoplasm of the duodenum benign tumor of duodenum benign tumor of the duodenum duodenum benign neoplasm duodenal benign neoplasm benign duodenal neoplasm MONDO:0006735 Retrograde flow of duodenal contents (bile acids; pancreatic juice) into the stomach. duodenogastric reflux (finding) duodenogastric reflux MONDO:0006736 Abnormal development of immature squamous epithelial cells of the uterine cervix, a term used to describe premalignant cytological changes in the cervical epithelium. These atypical cells do not penetrate the epithelial basement membrane. dysplasia of cervix MONDO:0006737 Slow or difficult obstetric labor or childbirth. dystocia MONDO:0006738 A rare cutaneous tumor of eccrine sweat gland origin. It is most commonly found on the extremities and is usually benign. There is no indication that heredity or external agents cause these tumors. eccrine acrospiroma eccrine hidradenoma eccrine hidradenoma of skin eccrine poroma poroma poroma (acrospiroma) Hidradenomas Hidradenomas, solid-cystic Hidradrenoma, clear-cell Hidradrenoma, nodular Hidradrenomas, clear-cell Hidradrenomas, nodular acrospiroma, eccrine acrospiromas acrospiromas, eccrine clear cell Hidradrenoma clear-cell Hidradrenoma clear-cell Hidradrenomas eccrine Acrospiromas hidradenoma hidradenoma, solid-cystic nodular Hidradrenoma nodular Hidradrenomas poroma/acrospiroma solid cystic hidradenoma solid-cystic Hidradenomas solid-cystic hidradenoma eccrine acrospiroma MONDO:0006739 A transplantable, poorly differentiated malignant tumor which appeared originally as a spontaneous breast carcinoma in a mouse. It grows in both solid and ascitic forms. Ehrlich's tumor Ehrlich tumor carcinoma MONDO:0006740 Empty sella syndrome (ESS) is a condition that involves the sella turcica, a bony structure at the base of the brain that protects the pituitary gland. There is a primary and secondary form of the condition. The primary form occurs when a structural defect above the pituitary gland increases pressure in the sella turcica and causes the gland to flatten. The secondary form occurs when the pituitary gland is damaged due to injury, a tumor, surgery or radiation therapy. Some people with ESS have no symptoms. People with secondary ESS may have symptoms of decreased pituitary function such as absence of menstruation, infertility, fatigue, and intolerance to stress and infection. In children, ESS may be associated with early onset of puberty, growth hormone deficiency, pituitary tumors, or pituitary gland dysfunction. Treatment focuses on the symptoms present in each person. empty sella empty sella syndrome empty sella turcica empty sella syndrome https://rarediseases.info.nih.gov/diseases/6331/empty-sella-syndrome MONDO:0006741 Localized atrophy of the brain parenchyma due to aging, hemorrhage, infarct, or inflammation. encephalomalacia MONDO:0006742 Thyroid gland enlargement caused by inadequate dietary iodine intake. It occurs in areas in which the soil lacks iodine compounds or there is low seafood consumption. iodine-deficiency-related endemic goitre simple goiter simple goitre endemic goiter MONDO:0006743 Infection of the endocrine glands with species of mycobacterium, most often mycobacterium tuberculosis. endocrine tuberculosis MONDO:0006744 An accumulation of endolymph in the inner ear (labyrinth) leading to buildup of pressure and distortion of intralabyrinthine structures, such as cochlea and semicircular canals. It is characterized by sensorineural hearing loss; tinnitus; and sometimes vertigo. labyrinthine hydrops endolymphatic hydrops MONDO:0006745 A malignant mesenchymal neoplasm that affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma. endometrial stromal sarcoma endometrial stromal sarcoma, high grade endometrial stromal sarcomas endometrioid stromal sarcoma ess sarcomas, endometrial stromal stromal sarcoma of the corpus uteri stromal sarcoma, endometrial stromal sarcoma, endometrial, malignant stromal sarcomas, endometrial undifferentiated endometrial sarcoma endometrioid stromal sarcoma https://rarediseases.info.nih.gov/diseases/6339/endometrial-stromal-sarcoma MONDO:0006746 A disease characterized by fibrotic thickening of the endocardium, particularly the right and/or left inflow tracts. The disease often involves the atrioventricular valves, leading to valvular regurgitaion. It most commonly occurs in children living within 15 degrees of the equator. African endomyocardial fibrosis endomyocardial sclerosis obscure African cardiomyopathy endomyocardial fibrosis https://rarediseases.info.nih.gov/diseases/6340/endomyocardial-fibrosis MONDO:0006748 A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. electroencephalography demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the cerebral cortex or from subcortical structures (e.g., brain stem; basal ganglia). This condition is associated with Russian Spring and Summer encephalitis (see encephalitis, tick borne); Rasmussen syndrome (see encephalitis); multiple sclerosis; diabetes mellitus; brain neoplasms; and cerebrovascular disorders. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319) epilepsia partialis continua MONDO:0006749 A melanoma characterized by the presence of malignant large epithelioid melanocytes and malignant spindle-shaped melanocytes. mixed epithelioid and spindle cell melanoma mixed epithelioid and spindle cell melanoma MONDO:0006751 Infections with bacteria of the genus erysipelothrix. Erysipelothrix caused disease or disorder Erysipelothrix disease or disorder Erysipelothrix infection infection, Erysipelothrix infections, Erysipelothrix Erysipelothrix infectious disease MONDO:0006752 A disease caused by infection with Erysipelothrix rhusiopathiae. https://github.com/monarch-initiative/mondo/issues/5166 Erysipelothrix rhusiopathiae caused disease or disorder Erysipelothrix rhusiopathiae disease or disorder erysipeloid Erysipelothrix rhusiopathiae infectious disease MONDO:0006753 A form of gram-negative meningitis that tends to occur in neonates, in association with anatomical abnormalities (which feature communication between the meninges and cutaneous structures) or as opportunistic infections in association with immunologic deficiency syndromes. In premature neonates the clinical presentation may be limited to anorexia; vomiting; lethargy; or respiratory distress. Full-term infants may have as additional features fever; seizures; and bulging of the anterior fontanelle. (From Menkes, Textbook of Child Neurology, 5th ed, pp398-400) Escherichia coli meningitis MONDO:0006754 A pathological condition characterized by the presence of a number of esophageal diverticula in the esophagus. esophageal diverticulosis MONDO:0006755 Abnormal thyroid function tests, low triiodothyronine with elevated reverse triiodothyronine, in the setting of non-thyroidal illness. euthyroid sick syndrome sick euthyroid syndrome sick-euthyroid syndrome euthyroid sick syndrome MONDO:0006757 Impairment of the bile flow caused by an obstruction in the portion of the bile duct system located outside of the liver. cholestasis of extrahepatic bile duct extrahepatic bile duct cholestasis extrahepatic biliary stasis extrahepatic cholestasis (finding) extrahepatic obstructive biliary disease extrahepatic cholestasis MONDO:0006758 Mycobacterium infections of the female reproductive tract (genitalia, female). female genital tuberculosis MONDO:0006759 Neuropathy of the femoral nerve. femoral nerve dysfunction femoral nerve lesions femoral nerve peripheral nerve lesion peripheral nerve lesion of femoral nerve femoral neuropathy MONDO:0006760 A disorder of the fetus or newborn that occurs when fetal cells that are coated with IgG alloantibodies from the mother attack antigens inherited from the father. Severity can range from absence of symptoms to death. EF - erythroblastosis foetalis HDFN erythroblastosis fetalis haemolytic disease due to rhesus isoimmunisation hemolytic disease of the fetus or newborn hemolytic disease of the newborn isoimmune hemolytic disease of the newborn rhesus isoimmunisation of the newborn fetal erythroblastosis MONDO:0006761 A disorder characterized by fibrous thickening of the arterial wall resulting in narrowing of the arterial lumen. It most often affects the renal artery and less often the carotid artery and abdominal arteries. It can cause hypertension and aneurysm formation. FMDA fibromuscular dysplasia fibromuscular dysplasia of arteries fibromuscular dysplasia MONDO:0006763 A painful inflammatory process leads to a mechanical block in active and passive range of motion (ROM) of the shoulder. Adhesive capsulitis of the shoulder is characterized by functional loss of passive and active shoulder motion. This inflammatory process results in fibroblastic proliferation and extensive scar tissue formation. Fibroblastic proliferation, a late phase of the inflammatory process involved in tissue repair, leads to thickening, fibrosis, and adhesion of the capsule to itself and the humerus. https://github.com/monarch-initiative/mondo/issues/5366 adhesions-capsulitis,shoulder adhesive capsulitis adhesive capsulitis of shoulder frozen shoulder MONDO:0006764 Meningitis caused by fungal agents which may occur as opportunistic infections or arise in immunocompetent hosts. Fungi caused infectious meningitis Fungi infectious meningitis fungal meningitis MONDO:0006765 Infections with bacteria of the genus fusobacterium. Fusobacterium caused disease or disorder Fusobacterium disease or disorder infection due to Fusobacterium infection caused by Fusobacterium Fusobacterium infectious disease MONDO:0006766 Impaired ambulation not attributed to sensory impairment or motor weakness. frontal lobe disorders; basal ganglia diseases (e.g., parkinsonian disorders); dementia, multi-infarct; alzheimer disease; and other conditions may be associated with gait apraxia. Gait apraxia (finding) gait apraxia MONDO:0006767 Dilatation of the vessels in the antrum of the stomach. It is associated with portal hypertension, scleroderma, and chronic renal failure. It may cause gastric bleeding. gave watermelon stomach gastric antral vascular ectasia MONDO:0006769 Paralysis of the muscles of the stomach wall resulting in delayed emptying of the gastric contents into the small intestine. gastroparesis (disease) gastric atonia gastroparalysis gastroparesis gastroparesis (disease) gastroparesis syndrome gastroparesis MONDO:0006770 A rare tumor-like lesion of the hands and feet characterized by the presence of hemorrhagic fibrous tissue, hemosiderin deposition, osteoclast-like giant cells which are irregularly distributed, and reactive bone formation. Pain and swelling are the most frequent symptoms. It may recur following curettage, but is usually cured after a second procedure. GCLSB central giant cell (reparative) granuloma central giant cell granuloma central giant cell reparative granuloma of jaw giant cell lesion of small bones giant cell reparative granuloma MONDO:0006771 Inflammation of the tongue. inflammation of tongue tongue inflammation glossitis MONDO:0006773 Neoplasms composed of tissues of the ovary or the testis, not neoplasms located in the ovaries or testes. Gonadal tissues include germ cells, cells from the sex cord, and gonadal stromal cells. gonadal tissue neoplasm MONDO:0006774 Three or more consecutive spontaneous abortions. habitual spontaneous abortion MONDO:0006777 A benign condition affecting the dorsum of the tongue. It is characterized by defective desquamation resulting in elongation of the filiform papillae. The dorsum of the tongue has a furry appearance and is usually stained black. hairy tongue overgrowth of filiform papillae Tongues, hairy hairy Tongues hairy tongue MONDO:0006778 A benign melanocytic nevus with a halo appearance. halo nevi leukoderma acquisitum Centrifugum of Sutton halo nevus https://rarediseases.info.nih.gov/diseases/9421/halo-nevi MONDO:0006779 A localized bulging or dilatation in the muscle wall of a heart (myocardium), usually in the left ventricle. Blood-filled aneurysms are dangerous because they may burst. Fibrous aneurysms interfere with the heart function through the loss of contractility. True aneurysm is bound by the vessel wall or cardiac wall. False aneurysms are hematoma caused by myocardial rupture. cardiac aneurysm heart aneurysm MONDO:0006781 Infections with organisms of the genus HELICOBACTER, particularly, in humans, HELICOBACTER PYLORI. The clinical manifestations are focused in the stomach, usually the gastric mucosa and antrum, and the upper duodenum. This infection plays a major role in the pathogenesis of type B gastritis and peptic ulcer disease. Helicobacter pylori caused disease or disorder Helicobacter pylori disease or disorder Helicobacter infection Helicobacter pylori infection, susceptibility to infection, Helicobacter infections, Helicobacter Helicobacter pylori infectious disease MONDO:0006782 Blood-filled uterus. hematometra hemometra MONDO:0006783 Collection of air and blood in the pleural cavity. hemopneumothorax MONDO:0006784 A condition characterized as a coagulation disturbance in newborns due to vitamin K deficiency resulting in impaired production of coagulation factors II, VII, IX, and X, and proteins C and S by the liver. hemorrhagic disease of newborn vitamin K deficiency bleeding in newborn hemorrhagic disease of newborn MONDO:0006786 A condition in which the hepatic venous outflow is obstructed anywhere from the small hepatic veins to the junction of the inferior vena cava and the right atrium. Usually the blockage is extrahepatic and caused by blood clots (thrombus) or fibrous webs. Parenchymal fibrosis is uncommon. hepatic vein thrombosis Budd-Chiari syndrome hepatic vein thrombosis MONDO:0006787 A benign cystic proliferation of the sweat glands with apocrine or eccrine differentiation. It usually presents as a dome-shaped, cystic papular or nodular lesion usually in the face and neck. It is a unilocular or mutlilocular lesion lined by an inner and an outer layer of epithelium. Complete excision is usually curative. Hydrocystoma apocrine/eccrine hidrocystoma eccrine hidrocystoma of skin hidrocystoma hidrocystoma (morphologic abnormality) apocrine cystadenoma eccrine cystadenoma cystadenoma hidrocystoma MONDO:0006788 Abnormal enlargement of the eye hydrophthalmos MONDO:0006789 Abnormally high level of amylase in the blood. hyperamylasemia MONDO:0006790 A regressive change of teeth characterized by excessive development of secondary cementum on the tooth surface. It may occur on any part of the root, but the apical two-thirds are most commonly affected. (Dorland, 27th ed) cementation hyperplasia hypercementosis https://rarediseases.info.nih.gov/diseases/6692/hypercementosis MONDO:0006791 Severe, intractable vomiting during pregnancy (usually the first trimester) accompanied by dehydration, weight loss, and electrolyte imbalances. hyperemesis gravidarum (disease) hyperemesis gravidarum hyperemesis gravidarum (disease) pernicious vomiting of pregnancy pregnancy pernicious vomiting hyperemesis gravidarum MONDO:0006792 Purplish or brownish red discoloration of the skin associated with increase in circulating polyclonal globulins, usually gamma-globulins. This syndrome often occurs on the legs of women aged 20 to 40 years. hyperglobulinemic purpura MONDO:0006793 Disease of the glandular, anterior portion of the pituitary (pituitary gland, anterior) resulting in hypersecretion of adenohypophyseal hormones such as growth hormone; prolactin; thyrotropin; luteinizing hormone; follicle stimulating hormone ; and adrenocorticotropic hormone. Hyperpituitarism usually is caused by a functional adenoma. hyperpituitarism MONDO:0006794 A small vessel vasculitis affecting the skin and/or internal organs. It is characterized by the presence of neutrophils and fibrinoid necrosis in small arteries and venules. It may be idiopathic or the result of drug treatment, infections, food intake, collagen vascular disorders, inflammatory bowel disease, or cancer. leukocytoclastic vasculitis hypersensitivity vasculitis MONDO:0006795 Overactive functioning of the spleen, resulting in excessive destruction of blood cells. hypersplenism (disease) hypersplenia hypersplenism hypersplenism (disease) hypersplenism MONDO:0006796 Encephalopathy resulting from hypertension. hypertensive encephalopathy MONDO:0006797 Retinopathy due to hypertension. hypertensive retinopathy MONDO:0006798 A symptom complex resulting from ingesting excessive amounts of vitamin A. hypervitaminosis type A hypervitaminosis A MONDO:0006799 A primary or metastatic neoplasm that affects the hypothalamus. hypothalamic neoplasms hypothalamic tumor hypothalamus neoplasm hypothalamus tumor neoplasm of hypothalamus neoplasm of the hypothalamus tumor of hypothalamus tumor of the hypothalamus hypothalamic neoplasm MONDO:0006800 A form of apraxia characterized by an acquired inability to carry out a complex motor activity despite the ability to mentally formulate the action. This condition has been attributed to a disruption of connections between the dominant parietal cortex and supplementary and premotor cortical regions in both hemispheres. (From Adams et al., Principles of Neurology, 6th ed, p57) classic apraxia classic apraxia (finding) [ambiguous] ideomotor dyspraxia limb-kinetic apraxia limb-kinetic apraxia (finding) transcortical apraxia transcortical apraxia (finding) ideomotor apraxia MONDO:0006801 A benign or malignant neoplasm that affects the wall of the ileum. Representative examples include adenoma, carcinoma, and lymphoma. ileal tumor ileum neoplasm ileum neoplasm (disease) ileum tumor neoplasm of ileum neoplasm of the ileum tumor of ileum tumor of the ileum ileal neoplasm MONDO:0006802 A syndrome characterized by abnormal secretion of antidiuretic hormone in conjunction with neoplastic growth occurring anywhere in the body. SIADH ectopic ADH secretion ectopic antidiuretic hormone secretion inappropriate ADH secretion inappropriate Arginine vasopressin secretion inappropriate antidiuretic hormone secretion syndrome syndrome of inappropriate antidiuretic hormone syndrome of inappropriate antidiuretic hormone secretion syndrome of inappropriate secretion of ADH syndrome of inappropriate secretion of antidiuretic hormone syndrome of inappropriate vasopressin secretion inappropriate ADH syndrome MONDO:0006803 Myocardial infarction in which the inferior wall of the heart is involved. It is often caused by occlusion of the right coronary artery. inferior myocardial infarction MONDO:0006804 An advanced, invasive breast adenocarcinoma characterized by the presence of distinct changes in the overlying skin. These changes include diffuse erythema, edema, peau d'orange (skin of an orange) appearance, tenderness, induration, warmth, enlargement, and in some cases a palpable mass. The skin changes are the consequence of lymphatic obstruction from the underlying invasive breast adenocarcinoma. Microscopically, the dermal lymphatics show prominent infiltration by malignant cells. The invasive breast adenocarcinoma is usually of ductal, NOS type. There is not significant inflammatory cell infiltrate present, despite the name of this carcinoma. inflammatory breast cancer inflammatory breast carcinoma inflammatory carcinoma of breast inflammatory carcinoma of the breast mastitis Carcinomatosa mastitis carcinomatosa IBC breast cancer, inflammatory inflammatory breast carcinoma MONDO:0006805 Angina pectoris (or equivalent type of ischemic discomfort) which has recently changed in frequency, duration, intensity, or occurs at rest. Preinfarction angina angina at rest anginal chest pain at rest impending infarction unstable angina worsening angina intermediate coronary syndrome MONDO:0006806 Inflammation of the pars plana. intermediate uveitis (disease) IU chronic cyclitis intermediate uveitis intermediate uveitis (disease) peripheral uveoretinitis pars planitis intermediate uveitis MONDO:0006807 A rupture in the wall of the small or large intestine due to traumatic or pathologic processes. bowel perforation perforation of intestine intestinal perforation MONDO:0006808 Pathological conditions involving arteries in the skull, such as arteries supplying the cerebrum, the cerebellum, the brain stem, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes. intracranial arterial disease MONDO:0006809 Blocking of a blood vessel in the skull by an embolus which can be a blood clot (thrombus) or other undissolved material in the blood stream. Most emboli are of cardiac origin and are associated with heart diseases. Other non-cardiac sources of emboli are usually associated with vascular diseases. cerebral embolism cerebral embolism with cerebral infarction intracranial embolism MONDO:0006810 A finding characterized by increased cerebrospinal fluid pressure within the skull. raised intracranial pressure intracranial hypertension MONDO:0006811 Reduction of cerebrospinal fluid pressure characterized clinically by headache which is maximal in an upright posture and occasionally by an abducens nerve palsy (see abducens nerve diseases), neck stiffness, hearing loss (see deafness); nausea; and other symptoms. This condition may be spontaneous or secondary to spinal puncture; neurosurgical procedures; dehydration; uremia; trauma (see also craniocerebral trauma); and other processes. Chronic hypotension may be associated with subdural hematomas (see hematoma, subdural) or hygromas. (From Semin Neurol 1996 Mar;16(1):5-10; Adams et al., Principles of Neurology, 6th ed, pp637-8) intracranial hypotension MONDO:0006812 Constriction of arteries in the skull due to sudden, sharp, and often persistent smooth muscle contraction in blood vessels. Intracranial vasospasm results in reduced vessel lumen caliber, restricted blood flow to the brain, and brain ischemia that may lead to hypoxic-ischemic brain injury (hypoxia-ischemia, brain). intracranial vasospasm MONDO:0006813 A nevus characterized by the proliferation of nevus cells in the dermis without involvement of the dermal-epidermal junction. dermal Nevus intradermal nevus MONDO:0006814 Inflammation of the iris. iritis (disease) inflammation of iris iris inflammation iritis iritis (disease) iritis MONDO:0006815 A malignant neoplasm involving the jejunum. cancer of jejunum jejunum cancer malignant jejunum neoplasm malignant neoplasm of jejunum malignant tumor of jejunum jejunal cancer MONDO:0006816 Any disorder of the joints. Joint ankylosis of the ankle and/or foot Joint disorder ankylosis of joint of ankle and/or foot ankylosis of joint of forearm ankylosis of joint of hand ankylosis of joint of lower leg ankylosis of joint of upper arm arthropathy disease of skeletal joint disease or disorder of skeletal joint disorder of skeletal joint disorder, Joint skeletal joint disease skeletal joint disease or disorder Joint ankylosis of the ankle and foot Joint ankylosis of the forearm Joint ankylosis of the hand Joint ankylosis of the lower leg Joint ankylosis of the pelvic region and thigh Joint ankylosis of the shoulder region Joint ankylosis of the upper arm ankylosis of ankle and foot joint ankylosis of forearm joint ankylosis of hand joint ankylosis of joint of multiple sites ankylosis of joint of pelvic region and thigh ankylosis of joint of shoulder region ankylosis of lower leg joint ankylosis of multiple joints ankylosis of upper arm joint infectious arthropathy arthrosis disorder of joint joint disease joint disorder arthropathy MONDO:0006817 A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. Most patients are young adults and the prognosis is usually excellent. juxtacortical osteogenic sarcoma juxtacortical osteosarcoma parosteal osteogenic sarcoma parosteal osteosarcoma PAOS juxtacortical osteosarcoma MONDO:0006820 Death of cells in the kidney cortex, a common final result of various renal injuries including hypoxia; ischemia; and drug toxicity. renal cortical necrosis kidney cortex necrosis MONDO:0006821 A complication of kidney diseases characterized by cell death involving kidney papilla in the kidney medulla. Damages to this area may hinder the kidney to concentrate urine resulting in polyuria. Sloughed off necrotic tissue may block kidney pelvis or ureter. Necrosis of multiple renal papillae can lead to kidney failure. necrotizing renal papillitis papillary necrosis renal papillitis necrotizing kidney papillary necrosis MONDO:0006823 A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present. 47,XXY syndrome Klinefelter syndrome Klinefelter's syndrome Klinefelter's syndrome, XXY XXY syndrome XXY syndrome (Klinefelter syndrome) XXY trisomy hypogonadotropic hypogonadism Klinefelter syndrome MONDO:0006824 Carcinoma having known association to krebs2 gene mutation Krebs 2 carcinoma MONDO:0006825 A prion disease found exclusively among the Fore linguistic group natives of the highlands of new guinea. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773) kuru encephalopathy kuru https://rarediseases.info.nih.gov/diseases/7617/kuru MONDO:0006826 A syndrome produced by severe protein deficiency, characterized by retarded growth, changes in skin and hair pigment, edema, and pathologic changes in the liver, including fatty infiltration, necrosis, and fibrosis. The word is a local name in Gold Coast, Africa, meaning 'displaced child'. Although first reported from Africa, kwashiorkor is now known throughout the world, but mainly in the tropics and subtropics. It is considered to be related to marasmus. (From Dorland, 27th ed) Kwashiokor nutritional edema with dyspigmentation of skin and hair nutritional oedema with dyspigmentation of skin and/or hair kwashiorkor MONDO:0006827 A syndrome caused by an infarct in the vertebral or posterior inferior cerebellar artery. It is characterized by sensory defects affecting the same side of the face as the infarct and the opposite side of the trunk as the infarct. Patients experience difficulty swallowing and/or speaking. Posterior inferior cerebellar artery syndrome Wallenberg syndrome Wallenberg's syndrome Lateral medullary syndrome PICA syndrome Vertebral artery syndrome lateral medullary syndrome MONDO:0006828 An aggressive, progressive, and destructive lesion affecting the nasal cavities, paranasal sinuses, and the palate. The vast majority of cases are malignant lymphoproliferations affecting the midline of the face in patients with nasal type extranodal NK/T-cell lymphoma. Midline lethal granuloma of nasal cavity and paranasal sinus Midline lethal granuloma of the nasal cavity and paranasal sinus malignant granuloma of face midfacial Necrotising lesion nasal cavity and paranasal sinus lethal Midline granuloma lethal midline granuloma Editor note: TODO granuloma DP nasal cavity and paranasal sinus lethal midline granuloma MONDO:0006829 A hematology test result that indicates the presence of an increased white blood cell count and increased neutrophil precursors resembling leukemia, in a peripheral blood smear. Represents a finding, may be obsoleted. leukemoid reaction MONDO:0006830 A precancerous condition characterized by the presence of abnormal whitish areas on the glans or prepuce of the penis. Risk factors include chronic irritation, inflammation, and infection of the penis, and poor genital hygiene. kraurosis of penis kraurosis penis leukoplakia of the penis penile leukoplakia leukoplakia of penis MONDO:0006831 A disorder involving the aberrant infiltration and aggregation of leukocytes into the vasculature of the body. Leukostasis is typically detected in the brain and lungs of persons with leukemia. It requires substantial ablative modalities to both reduce the number of cells present and to ensure dispersion of the aggregates. leukostasis (morphologic abnormality) leukostasis MONDO:0006833 Pathological enlargement of the lingual thyroid, ectopic thyroid tissue at the base of the tongue. It may cause upper airway obstruction; dysphagia; or hypothyroidism symptoms. lingual goiter MONDO:0006834 A primary or metastatic malignant neoplasm involving the lip. cancer of lip lip cancer malignant Lip neoplasm malignant Lip tumor malignant lip neoplasm malignant neoplasm of Lip malignant neoplasm of commissure of lip malignant neoplasm of external Lip, not specified as upper or lower malignant neoplasm of labial commissure of lip malignant neoplasm of lip malignant neoplasm of lip, external malignant neoplasm of lip, inner aspect malignant neoplasm of lip, unspecified malignant neoplasm of lip, unspecified, inner aspect malignant neoplasm of lip, unspecified, vermilion border malignant neoplasm of lip, vermilion border malignant neoplasm of lower lip, buccal aspect malignant neoplasm of lower lip, inner aspect malignant neoplasm of lower lip, mucosa malignant neoplasm of lower lip, oral aspect malignant neoplasm of oral aspect of lip, not specified whether upper or lower malignant neoplasm of other sites of lip malignant neoplasm of the Lip malignant neoplasm of vermilion border of lip malignant tumor of Lip malignant tumor of commissure of lip malignant tumor of labial mucosa malignant tumor of lower labial mucosa malignant tumor of the Lip malignant tumour of labial commissure malignant tumour of lip lip cancer MONDO:0006835 A glomerular disorder characterized by the electron microscopic finding of loss of podocyte foot processes. Light microscopic examination does not show glomerular changes. Patients present with proteinuria and nephrotic syndrome. lipoid nephrosis minimal change disease minimal change glomerulonephritis minimal change nephropathy nephrotic syndrome with lesion of minimal change glomerulonephritis nephrotic syndrome with lesion of minimal change nephrotic syndrome nil disease MCNS idiopathic minimal change nephrotic syndrome minimal change glomerulopathy minimal change nephrotic syndrome lipoid nephrosis MONDO:0006836 Inflammation of the meninges caused by listeria monocytogenes infection, usually occurring in individuals under the age of 3 years or over the age of 50 years. It may occur at any age in individuals with immunologic deficiency syndromes. Clinical manifestations include fever, altered mentation, headache, meningeal signs, focal neurologic signs, and seizures. (From Medicine 1998 Sep;77(5):313-36) Listeria meningitis Listeria monocytogenes caused infectious meningitis Listeria monocytogenes infectious meningitis Cerebritides, Listeria Listeria Cerebritides Listeria Meningitides Listeria Meningoencephalitides Listeria cerebritis Listeria meningoencephalitis Listeria monocytogenes Meningitides Listeria monocytogenes meningitis Meningitides, Listeria Meningitides, Listeria monocytogenes Meningoencephalitides, Listeria cerebritis, Listeria meningitis, Listeria monocytogenes meningoencephalitis, Listeria Listeria meningitis MONDO:0006837 A form of glaucoma in which chronic optic nerve damage and loss of vision normally attributable to buildup of intraocular pressure occurs despite prevailing conditions of normal intraocular pressure. normal tension glaucoma Glaucomas, Low tension Glaucomas, normal tension glaucoma, Low tension glaucoma, normal tension low tension Glaucomas normal tension Glaucomas tension Glaucomas, Low tension Glaucomas, normal tension glaucoma, Low tension glaucoma, normal low tension glaucoma MONDO:0006838 A form of cutaneous tuberculosis. It is seen predominantly in women and typically involves the nasal mucosa; buccal mucosa; and conjunctival mucosa. https://github.com/monarch-initiative/mondo/issues/4143 lupus vulgaris MONDO:0006839 A condition characterized by a combination of ostium secundum atrial septal defect and an acquired mitral valve stenosis. Lutembacher syndrome Lutembacher's anomaly Lutembacher's syndrome Lutembachers syndrome syndrome, Lutembacher syndrome, Lutembacher's Lutembacher syndrome MONDO:0006840 Dilatation of the lymphatic vessels. lymphangiectasia lymphangiectasis https://rarediseases.info.nih.gov/diseases/6933/lymphangiectasis MONDO:0006841 A lymphangioma characterized by the presence of collagen bundle formation. It has an indolent clinical course and may be associated with skin plaques. acquired progressive lymphangioma lymphangioendothelioma MONDO:0006842 A neoplasm with perivascular epithelioid cell differentiation, often associated with tuberous sclerosis. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lymph nodes, lung, mediastinum, and retroperitoneum. lymphangioleiomyoma lymphangiomyoma lymphangiomyoma MONDO:0006843 A hole in the macula of the retina. macular hole macular holes MONDO:0006844 A nutritional condition produced by a deficiency of magnesium in the diet, characterized by anorexia, nausea, vomiting, lethargy, and weakness. Symptoms are paresthesias, muscle cramps, irritability, decreased attention span, and mental confusion, possibly requiring months to appear. Deficiency of body magnesium can exist even when serum values are normal. In addition, magnesium deficiency may be organ-selective, since certain tissues become deficient before others. (Harrison's Principles of Internal Medicine, 12th ed, p1936) magnesium deficiency MONDO:0006845 Mycobacterium infections of the male reproductive tract (genitalia, male). male genital tuberculosis male reproductive system tuberculosis Male genital Tuberculoses Tuberculoses, Male genital genital Tuberculoses, Male genital tuberculosis, Male male genital tuberculosis MONDO:0006846 Severe hypertension that is characterized by rapid onset of extremely high blood pressure. MHT accelerated-malignant hypertension hypertensive emergency malignant phase hypertension malignant hypertension MONDO:0006847 Neoplasms composed of lymphoid tissue, a lattice work of reticular tissue the interspaces of which contain lymphocytes. The concept does not refer to neoplasms located in lymphatic vessels. Editor note: do not axiomatize as cancer of lymphatic vessel malignant lymphatic vessel tumor MONDO:0006848 The lack of sufficient energy or protein to meet the body's metabolic demands, as a result of either an inadequate dietary intake of protein, intake of poor quality dietary protein, increased demands due to disease, or increased nutrient losses. nutritional atrophy nutritional marasmus marasmus MONDO:0006849 Inflammation of breast tissue during lactation or postpartum due to an obstructed duct or infection. Mastitis can also occur in non-breastfeeding women, and rarely in men. breast infection breast inflammation inflammation of breast inflammatory breast disease inflammatory disease of breast mastitis MONDO:0006850 A benign or malignant neoplasm that affects the maxillary sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. maxillary antrum neoplasm maxillary antrum tumor maxillary sinus neoplasm maxillary sinus neoplasm (disease) maxillary sinus tumor maxillofacial sinus neoplasm maxillofacial sinus tumor neoplasm of maxillary antrum neoplasm of maxillary sinus neoplasm of maxillofacial sinus neoplasm of the maxillary antrum neoplasm of the maxillary sinus neoplasm of the maxillofacial sinus tumor of maxillary antrum tumor of maxillary sinus tumor of maxillofacial sinus tumor of the maxillary antrum tumor of the maxillary sinus tumor of the maxillofacial sinus maxillary sinus neoplasm MONDO:0006851 A serious condition in which a newborn breathes a mixture of meconium (the first intestinal discharge) and amniotic fluid into the lungs around the time of delivery. Meconium aspiration syndrome occurs in 5-10 percent of births and typically occurs when the infant is stressed, as when the infant is past its due date. MAS meconium aspiration meconium aspiration syndrome neonatal aspiration of meconium aspiration syndrome, meconium aspiration, meconium meconium inhalation syndrome, meconium aspiration Editor note: ORDO says this is rare, yet NCIT says 5-10% of births meconium aspiration syndrome MONDO:0006853 A morphologic variant of chondrosarcoma arising from bone and soft tissue. It is characterized by the presence of malignant small round cells, biphasic growth pattern, and well differentiated hyaline cartilage. Clinical presentation includes pain and swelling. The clinical course is aggressive, with local recurrences and distant metastases. mesenchymal chondrosarcoma mesenchymal chondrosarcoma MONDO:0006854 A term describing a soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation. mesenchymoma mesenchymoma MONDO:0006855 Obstruction of the flow in the splanchnic circulation by atherosclerosis; embolism; thrombosis; stenosis; trauma; and compression or intrinsic pressure from adjacent tumors. Rare causes are drugs, intestinal parasites, and vascular immunoinflammatory diseases such as periarteritis nodosa and thromboangiitis obliterans. (From Juergens et al., Peripheral Vascular Diseases, 5th ed, pp295-6) mesenteric vascular occlusion MONDO:0006856 A benign or malignant neoplasm arising from mesothelial cells. Mesothelial cells are the lining cells of the pleura and peritoneum. -- 2003 mesothelial neoplasm mesothelial tumor mesothelial neoplasm MONDO:0006857 Necrosis occurring in the middle cerebral artery distribution system which brings blood to the entire lateral aspects of each cerebral hemisphere. Clinical signs include impaired cognition; aphasia; agraphia; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction. middle cerebral artery infarction MONDO:0006858 A disease involving the mouth. https://github.com/monarch-initiative/mondo/issues/4968 disease of mouth disease or disorder of mouth disorder of mouth mouth disease mouth disease or disorder oral disease oral disorder mouth disorder MONDO:0006859 A benign or low malignant potential cystic epithelial neoplasm composed of cells which contain intracytoplasmic mucin. It may arise from the ovary, pancreas, appendix, and lung. adenoma, mucinous, benign mucinous adenoma mucinous cystadenoma mucinous cystoma pseudomucinous cystadenoma mucinous cystadenoma MONDO:0006861 A tumor mass composed of myeloblasts or immature myeloid cells. It occurs in extramedullary sites or the bone. (WHO, 2001) chloroma extramedullary myeloid tumor myeloid sarcoma sarcoma, myeloid, malignant MS granulocytic sarcoma myeloid sarcoma MONDO:0006862 Muscular pain in numerous body regions that can be reproduced by pressure on trigger points, localized hardenings in skeletal muscle tissue. Pain is referred to a location distant from the trigger points. A prime example is the temporomandibular joint dysfunction syndrome. myofascial pain syndrome MONDO:0006863 An infiltrating malignant soft tissue neoplasm characterized by the presence of immature undifferentiated cells and abundant myxoid stroma formation. myxosarcoma myxosarcoma (morphologic abnormality) myxosarcoma, malignant myxosarcoma MONDO:0006864 A benign, inflammatory, variably ulcerated, occasionally bilateral, self-healing lesion of the minor salivary glands that is often confused clinically and histologically with carcinoma. necrotizing sialometaplasia MONDO:0006865 A bacterial infectious process affecting the gums. It is characterized by the development of necrotic, ulcerated, and painful lesions with creation of pseudomembranes extending along the gingival margins. ANUG Vincent angina Vincent's angina Vincent's angina - pharyngitis Vincent's disease Vincent's infection, any site acute necrotising ulcerative gingivitis acute necrotising ulcerative gingivitis [ambiguous] acute necrotising ulcerative gingivostomatitis acute necrotising ulcerative gingivostomatitis [ambiguous] acute necrotizing ulcerative gingivitis acute necrotizing ulcerative gingivostomatitis acute ulceromembranous gingivitis angina - Vincents early acute necrotising gingivitis trench mouth Fusospirillary gingivitis Fusospirillosis Vincent's gingivitis Vincent's infection Vincent's stomatitis acute membranous gingivitis phagedenic gingivitis necrotizing ulcerative gingivitis MONDO:0006866 A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. In the majority of infants the myasthenic weakness resolves (i.e., transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., persistent neonatal myasthenia gravis). (From Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4) neonatal myasthenia gravis neonatal myasthenia gravis MONDO:0006868 Loss or absence of normal intestinal function due to nerve damage or birth defects. It is characterized by the inability to control the elimination of stool from the body. neurogenic bowel MONDO:0006869 Goiter characterized by discrete tissue mass(es) that may or may not produce thyroid hormones. nodular goiter (disease) goiter, nodular nodular goiter nodular goiter (disease) nodular goitre nodular goiter MONDO:0006871 A highly malignant choriocarcinoma derived from the non-placental origin such as the totipotent cells in the testis, the ovary, and the pineal gland. It produces high levels of chorionic gonadotropin and can metastasize widely through the bloodstream to the lungs, brain, liver, bone, and other viscera by the time of diagnosis. non-gestational choriocarcinoma MONDO:0006873 A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed) malnourished malnutrition nutritional deficiency disease MONDO:0006874 A finding indicating increased bilirubin levels in the blood and urine, due to intrahepatic or extrahepatic obstruction of the biliary system. cholestatic jaundice cholestatic jaundice syndrome obstructive hyperbilirubinemia obstructive jaundice MONDO:0006875 Abnormally high intraocular pressure. ocular hypertension MONDO:0006876 Tuberculous infection of the eye, primarily the iris, ciliary body, and choroid. https://github.com/monarch-initiative/mondo/issues/4143 ocular tuberculosis MONDO:0006877 Inflammation of the ovary, generally caused by an ascending infection of organisms from the endocervix. inflammation of ovary ovary inflammation oophoritis MONDO:0006878 Infections with bacteria of the family moraxellaceae. Moraxellaceae caused disease or disorder Moraxellaceae disease or disorder Moraxella infection Moraxella infections Moraxellaceae infection Psychobacter infection Psychobacter infections infection, Moraxella infection, Moraxellaceae infection, Psychobacter infections, Moraxella infections, Moraxellaceae infections, Psychobacter Moraxellaceae infectious disease MONDO:0006879 Swelling of the optic disk, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause optic atrophy and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175) https://github.com/monarch-initiative/mondo/issues/5537 Choked disk Choked disks Edemas, optic disk decreased intraocular pressure associated papilledema decreased intraocular pressure-associated papilledema disk, Choked disks, Choked edema of the optic disc edema, optic disk edema, optic papilla increased intracranial pressure associated papilledema increased intracranial pressure-associated papilledema inflammation of optic disc optic disc inflammation optic discitis optic disk edema optic nerve papillitis optic papilla edema optic papillitis papilledema associated with decreased intraocular pressure papilledema associated with increased intracranial pressure papillitis papillitis, optic papillitis, optic nerve Edemas, retinal edema, retinal retinal Edemas retinal edema optic papillitis MONDO:0006880 A disorder of the buccal mucosa resembling early leukoplakia, characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer. (Dorland, 27th ed) leukedema of mouth oral leukoedema MONDO:0006881 Inflammation of the eye tissues posterior to the orbital septum, and generally secondary to an infection spread from adjacent sinuses. Signs and symptoms of the affected eye include sudden loss of vision, erythema, edema, decreased eye movement, and pain. Treatment is conducted via intravenous antibiotics, observation, and surgical intervention when necessary. orbital cellulitis orbital cellulitis MONDO:0006882 Inflammation of one or both testes due to viral or bacterial infections. Signs and symptoms include enlargement or tenderness of the affected testis, inguinal lymphadenopathy, blood in the semen, and pain during urination, intercourse, or ejaculation. orchitis (disease) Inflammation of testis Orchititis inflammation of testis orchitis orchitis (disease) testis inflammation testisitis orchitis MONDO:0006883 A malignant neoplasm originating from the apical lung. Most malignant superior sulcus neoplasms are bronchogenic carcinomas. This tumor may be associated with Pancoast syndrome. It is also known as Pancoast tumor. Pancoast tumor Pancoast's tumor Pancoast's tumour malignant Superior sulcus lung neoplasm malignant Superior sulcus lung tumor malignant Superior sulcus neoplasm malignant Superior sulcus neoplasm of lung malignant Superior sulcus neoplasm of the lung malignant Superior sulcus tumor malignant Superior sulcus tumor of lung malignant Superior sulcus tumor of the lung malignant pulmonary sulcus neoplasm pulmonary sulcus neoplasm, malignant superior pulmonary sulcus syndrome Pancoast's syndrome superior pulmonary sulcus syndrome (disorder) [ambiguous] superior sulcus tumor malignant superior sulcus neoplasm MONDO:0006884 Acute suppurative inflammation of the inner eye with necrosis of the sclera (and sometimes the cornea) and extension of the inflammation into the orbit. Pain may be severe and the globe may rupture. In endophthalmitis the globe does not rupture. panophthalmitis MONDO:0006886 A thyroid neoplasm of mixed papillary and follicular arrangement. Its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1271) papillary and follicular adenocarcinoma papillary and follicular carcinoma thyroid gland papillary and follicular carcinoma papillary follicular thyroid adenocarcinoma thyroid gland papillary and follicular carcinoma MONDO:0006887 Inflammation of the parametrium, the connective tissue of the pelvic floor, extending from the subserous coat of the uterus laterally between the layers of the broad ligament. inflammation of parametrium parametrium inflammation pelvic cellulitis parametritis MONDO:0006888 A diffuse or multifocal peripheral neuropathy caused by the effects of a distant neoplasm. It may be attributed, in part, to the immune response to neoplasm-elaborated proteins. The neuropathy may be sensory, motor, mixed or autonomic. It may be the initial presentation of an occult neoplasm. Detection and resection of the neoplasm may result in cure. paraneoplastic polyneuropathy paraneoplastic polyneuropathy MONDO:0006889 A condition in which the foreskin of an uncircumcised male is retracted and cannot be pulled back over the glans penis. It results in painful swelling of the glans penis and, if is not corrected, may lead to gangrene. paraphimosis MONDO:0006890 A benign tumor arising from the parenchymal cells of the parathyroid glands. In the vast majority of cases, the tumor involves a single parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. It is usually surrounded by a well-defined capsule. Capsular invasion, vascular invasion, and perineural invasion are absent. adenoma of parathyroid adenoma of parathyroid gland adenoma of the parathyroid adenoma of the parathyroid gland parathyroid adenoma parathyroid gland adenoma parathyroid gland adenoma MONDO:0006891 A simple partial seizure consisting of clonus or spasm of a muscle or muscle group; it may be single or in a continuous and repetitive series or may spread to adjacent muscles. epilepsy, focal motor focal motor seizure partial motor epilepsy MONDO:0006892 A disorder characterized by recurrent focal onset seizures which have sensory (i.e., olfactory, visual, tactile, gustatory, or auditory) manifestations. Partial seizures that feature alterations of consciousness are referred to as complex partial seizures (epilepsy, complex partial). partial sensory epilepsy MONDO:0006893 Any of several bacterial diseases, usually caused by pasteurella multocida, marked by the presence of hemorrhagic areas in the subcutaneous tissues, serous membranes, muscles, lymph glands, and throughout the internal organs. The diseases primarily affect animals and rarely humans. Septicaemia, haemorrhagic Septicaemia, hemorrhagic bacteremia, haemorrhagic bacteremia, hemorrhagic haemorrhagic Septicaemia haemorrhagic bacteremia haemorrhagic septicemia hemorrhagic Septicaemia hemorrhagic bacteremia septicemia, haemorrhagic septicemia, hemorrhagic Pasteurella hemorrhagic septicemia MONDO:0006894 A syndrome characterized by retropatellar or peripatellar pain resulting from physical and biochemical changes in the patellofemoral joint. The pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. There is a lack of consensus on the etiology and treatment. The syndrome is often confused with (or accompanied by) chondromalacia patellae, the latter describing a pathological condition of the cartilage and not a syndrome. patellofemoral pain syndrome MONDO:0006895 A benign, borderline, or malignant neoplasm that affects the penis. Representative examples include penile hemangioma, penile intraepithelial neoplasia, and penile carcinoma. neoplasm of penis neoplasm of the penis penile neoplasm penile neoplasms penile tumor penis neoplasm penis neoplasm (disease) penis tumor tumor of penis tumor of the penis penile neoplasm MONDO:0006896 Inflammation of the esophagus that is caused by the reflux of gastric juice with contents of the stomach and duodenum. peptic esophagitis peptic reflux disease reflux esophagitis reflux oesophagitis peptic esophagitis MONDO:0006897 Chronic nonsuppurative inflammation of periapical tissue resulting from irritation following pulp disease or endodontic treatment. apical granuloma periapical granuloma periapical granuloma MONDO:0006898 Inflammation of the tissues around a joint. (Dorland, 27th ed) periarthritis MONDO:0006899 Inflammation of the gingiva surrounding the crown of a tooth. pericoronitis MONDO:0006900 Inflammation of the connective and adipose tissues surrounding the kidney. inflammation of perirenal fat perirenal fat inflammation perinephritis MONDO:0006901 A benign or malignant neoplasm that affects the peritoneal cavity. Representative examples of benign neoplasms include adenomatoid tumor and disseminated peritoneal leiomyomatosis. Representative examples of malignant neoplasms include primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma. neoplasm of peritoneum peritoneal neoplasm peritoneum neoplasm peritoneum neoplasm (disease) peritoneum tumor tumor of peritoneum peritoneal neoplasm MONDO:0006903 Paralysis of the nerves located in the legs. nerve palsy, peroneal palsy, peroneal nerve peroneal nerve palsy peroneal nerve paralysis MONDO:0006904 A condition in which there is constriction in the tip of the foreskin resulting in inability to fully retract the foreskin over the glans penis. Causes include balanoposthitis, balanitis xerotica obliterans, and untreated diabetes. tight foreskin tight frenulum phimosis MONDO:0006905 A benign, small and slightly elevated brown or black skin lesion with usually well-demarcated borders. It is characterized by the presence of a melanocytic proliferation resulting in the formation of uniform cellular nests. Sometimes the clinical and morphologic features may be difficult to distinguish from melanoma. spindle cell Nevus of Reed pigmented spindle cell nevus MONDO:0006907 A benign, small, papular or nodular skin neoplasm that usually arises above the upper lip. It is characterized by an epithelial proliferation with a central cavity. The cavity wall is lined with keratinocytes. Infundibuloisthmicoma Pilar sheath acanthoma acanthoma of Pilar sheath acanthoma of the Pilar sheath pilar sheath acanthoma MONDO:0006908 A rare, potentially life-threatening disorder caused by acute ischemic infarction or hemorrhage in the pituitary gland. It is most often associated with the presence of a pituitary gland adenoma. Signs and symptoms include headache, vomiting, visual disturbances, and endocrine dysfunction. pituitary gland apoplexy pituitary apoplexy MONDO:0006909 Proportionately decreased bodily growth due to failure of the pituitary gland to produce an adequate supply of growth hormone. pituitary dwarfism MONDO:0006912 The presence of gas within the wall of the large or small intestine. pneumatosis cystoides intestinalis MONDO:0006913 An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with otitis media; mastoiditis; sinusitis; respiratory tract infections; sickle cell disease (anemia, sickle cell); skull fractures; and other disorders. Clinical manifestations include fever; headache; neck stiffness; and somnolence followed by seizures; focal neurologic deficits (notably deafness); and coma. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111) Streptococcus pneumoniae caused infectious meningitis Streptococcus pneumoniae infectious meningitis pneumococcal meningitis MONDO:0006915 Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (guillain-barre syndrome) and polyradiculoneuropathy, chronic inflammatory demyelinating. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots. polyradiculoneuropathy MONDO:0006916 Abdominal symptoms after removal of the gallbladder. The common postoperative symptoms are often the same as those present before the operation, such as colic, bloating, nausea, and vomiting. There is pain on palpation of the right upper quadrant and sometimes jaundice. The term is often used, inaccurately, to describe such postoperative symptoms not due to gallbladder removal. postcholecystectomy syndrome MONDO:0006917 Necrosis induced by ischemia in the posterior cerebral artery distribution system which supplies portions of the brain stem; the thalamus; temporal lobe, and occipital lobe. Depending on the size and location of infarction, clinical features include olfaction disorders and visual problems (agnosia; alexia; hemianopsia). posterior cerebral artery infarction MONDO:0006918 Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis. chorioretinal region inflammation inflammation of chorioretinal region uveitis, posterior Editor note: choroid=PU. in MESH PUitis is defined to be choroid+retina+VB, and isa panuveitis. TODO check ORDO, GARD posterior uveitis MONDO:0006919 A condition due to decreased dietary intake of potassium, as in starvation or failure to administer in intravenous solutions, or to gastrointestinal loss in diarrhea, chronic laxative abuse, vomiting, gastric suction, or bowel diversion. Severe potassium deficiency may produce muscular weakness and lead to paralysis and respiratory failure. Muscular malfunction may result in hypoventilation, paralytic ileus, hypotension, muscle twitches, tetany, and rhabomyolysis. Nephropathy from potassium deficit impairs the concentrating mechanism, producing polyuria and decreased maximal urinary concentrating ability with secondary polydipsia. (Merck Manual, 16th ed) potassium deficiency MONDO:0006920 A condition in which blood glucose levels are high, but not high enough to be classified as type 2 diabetes. https://github.com/monarch-initiative/mondo/issues/5723 borderline diabetes prediabetes prediabetic state prediabetes syndrome MONDO:0006921 Infections with bacteria of the order actinomycetales. actinomycetales caused disease or disorder actinomycetales disease or disorder actinomycetales infection actinomycetales infections actinomycete infection actinomycete infections actinomycotic infection actinomycotic infectious disease infection, actinomycetales infection, actinomycete infections, actinomycetales infections, actinomycete actinomycosis infection caused by actinomycetales Actinomycetales infectious disease MONDO:0006922 Infections with bacteria of the family anaplasmataceae. Anaplasmataceae caused disease or disorder Anaplasmataceae disease or disorder Anaplasmataceae infection Haemobartonelloses Haemobartonellosis infection, Anaplasmataceae infections, Anaplasmataceae Anaplasmataceae infectious disease MONDO:0006923 Infections with bacteria of the family bacillaceae. Bacillaceae caused disease or disorder Bacillaceae disease or disorder Bacillaceae infection infection, Bacillaceae infections, Bacillaceae Bacillaceae infectious disease MONDO:0006924 Infections with bacteria of the family bartonellaceae. Bartonellaceae caused disease or disorder Bartonellaceae disease or disorder Bartonellaceae infection infection, Bartonellaceae infections, Bartonellaceae Bartonellaceae infectious disease MONDO:0006925 Infections with bacteria of the family Fusobacteriaceae, in the order Fusobacterales, phylum fusobacteria. Fusobacteriaceae caused disease or disorder Fusobacteriaceae disease or disorder Fusobacteriaceae infection infection, Fusobacteriaceae infections, Fusobacteriaceae Fusobacteriaceae infectious disease MONDO:0006926 Infections with bacteria of the genus haemophilus. Haemophilus caused disease or disorder Haemophilus disease or disorder Haemophilus infectious disease haemophilus infectious disease Haemophilus infection Hemophilus infection Hemophilus infections infection, Haemophilus infection, Hemophilus infections, Haemophilus infections, Hemophilus haemophilus infectious disease MONDO:0006927 Infections with bacteria of the family rickettsiaceae. Rickettsiaceae caused disease or disorder Rickettsiaceae disease or disorder Rickettsiaceae infection infection, Rickettsiaceae infections, Rickettsiaceae rickettsialpox Rickettsiaceae infectious disease MONDO:0006929 Infections with bacteria of the genus proteus. Proteus <enterobacteria> caused disease or disorder Proteus <enterobacteria> disease or disorder Proteus <enterobacteria> infectious disease Proteus infection infection, Proteus infections, Proteus Proteus infectious disease MONDO:0006930 A condition affecting cranial nerves IX-XII resulting from upper motor neuron damage arising from a variety of causes. pseudobulbar palsy pseudobulbar paralysis pseudobulbar palsy MONDO:0006931 A single lung lesion that is characterized by a small round mass of tissue, usually less than 1 cm in diameter, and can be detected by chest radiography. A solitary pulmonary nodule can be associated with neoplasm, tuberculosis, cyst, or other anomalies in the lung, the chest wall, or the pleura. coin lesion lung coin lesion of lung coin lesion of lung (context-dependent category) coin lesion of lung (finding) pulmonary coin lesion MONDO:0006932 Accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure. It is caused by direct injury to the lung parenchyma or congestive heart failure. The symptoms may appear suddenly or gradually. Suddenly appearing symptoms include difficulty breathing, feeling of suffocation, and coughing associated with frothy sputum. Gradually appearing symptoms include difficulty breathing while lying in bed, shortness of breath during activity, and weight gain (in patients with congestive heart failure). edema, pulmonary pulmonary edema MONDO:0006933 A tumor-like inflammatory lesion of the lung that is composed of plasma cells and fibrous tissue. It is also known as an inflammatory pseudotumor, often with calcification and measuring between 2 and 5 cm in diameter. granuloma, plasma cell, pulmonary lymphocytic pseudotumor of lung sclerosing hemangiocytoma of lung pulmonary plasma cell granuloma MONDO:0006935 The obstruction of the right ventricular outflow tract that originates within the body of the right ventricle, that exists at the time of birth; it often occurs in association with other intracardiac anomalies. congenital infundibular stenosis infundibular pulmonic stenosis infundibular pulmonic stenosis, congenital pulmonary infundibular stenosis subvalvular pulmonic stenosis pulmonary subvalvular stenosis MONDO:0006936 The pathologic narrowing of the orifice of the pulmonary valve. This lesion restricts blood outflow from the right ventricle to the pulmonary artery. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete. pulmonary valve stenosis MONDO:0006937 Inflammation of the dental pulp. dental pulp inflammation inflammation of dental pulp pulpitis MONDO:0006938 Inflammation of the renal pelvis. inflammation of renal pelvis renal pelvis inflammation pyelitis MONDO:0006939 An inflammatory process affecting the kidney. The cause is most often bacterial, but may also be fungal in nature. Signs and symptoms may include fever, chills, flank pain, painful and frequent urination, cloudy or bloody urine, and confusion. kidney infection pyometrium pyelonephritis MONDO:0006940 A peripheral nerve lesion that involves the radial nerve. lesion of radial nerve peripheral nerve lesion of radial nerve radial nerve lesions radial nerve peripheral nerve lesion radial nerve lesion MONDO:0006941 An infectious disease that is caused transmitted by the bite of a rat. Two species of bacteria can cause the infection: Streptobacillus moniliformis and Spirillum minus. Streptobacillosis spirillosis rat bite fever rat-bite fever https://rarediseases.info.nih.gov/diseases/9557/rat-bite-fever MONDO:0006944 A group of inherited kidney disorders characterized by the abnormally elevated levels of amino acids in urine. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the proximal renal tubules. Renal aminoaciduria are classified by the specific amino acid or acids involved. renal aminoaciduria MONDO:0006945 Narrowing or occlusion of the renal artery or arteries. It is due usually to atherosclerosis; fibromuscular dysplasia; thrombosis; embolism, or external pressure. The reduced renal perfusion can lead to renovascular hypertension (hypertension, renovascular). renal artery obstruction MONDO:0006946 Abnormalities of bone mineral metabolism associated with chronic kidney disease. renal rickets Osteodystrophies, renal osteodystrophy, renal renal Osteodystrophies rickets, renal renal osteodystrophy MONDO:0006947 High blood pressure secondary to renal artery stenosis. renovascular hypertension (disease) renovascular hypertension renovascular hypertension (disease) renovascular hypertension MONDO:0006948 An occlusion of the retinal artery. retinal artery occlusion MONDO:0006949 Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium. retinal drusen MONDO:0006950 Inflammation of the retinal vasculature with various causes including infectious disease; lupus erythematosus, systemic; multiple sclerosis; behcet syndrome; and chorioretinitis. retinal vasculitis retinal vasculitis MONDO:0006951 An occlusion of the retinal vein. occlusion, of retinal vein retinal vein occlusion retinal vein occlusion MONDO:0006952 A bilateral retinopathy characterized by neovascularization, scarring, retinal detachment, and eventually blindness. It may be mild or severe. It occurs in babies born prematurely. Causes include oxygen toxicity and hypoxia. ROP Terry syndrome premature retinopathy retrolental fibroplasia retinopathy of prematurity MONDO:0006953 The mother develops antibodies against red blood cell Rhesus antigens. This may lead to potential fetal adverse outcomes such as anemia. Rh incompatibility affecting management of mother Rh isoimmunization MONDO:0006955 An autoinflammatory condition following an infection with Group A Beta Hemolytic Streptococcus (GABHS), in which the heart is attacked by antibodies formed in reaction to a recent GABHS infection. Chief anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords, all of which can result in valvular dysfunction. RHD disease, rheumatic heart heart disease, rheumatic rheumatic carditis rheumatic heart disease MONDO:0006956 A group of infectious diseases that is caused by Rickettsia. Rickettsia caused disease or disorder Rickettsia disease or disorder Rickettsia infection Rickettsia infectious disease Rickettsiae disease Rickettsial disease Rickettsial infectious disease Rickettsial infectious disorder Rickettsiosis infection, Rickettsia infections, Rickettsia We classify this using the NCBI Taxon for Rickettsiales to include ehlrichosis and scrub typhus Rickettsiosis MONDO:0006957 Dental caries involving the tooth root, cementum, or cervical area of the tooth. cementum caries cementum dental caries dental caries of cementum dental caries of root surface root caries root caries MONDO:0006960 Disease or damage involving the SCIATIC NERVE, which divides into the PERONEAL NERVE and TIBIAL NERVE (see also PERONEAL NEUROPATHIES and TIBIAL NEUROPATHY). Clinical manifestations may include SCIATICA or pain localized to the hip, PARESIS or PARALYSIS of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. The sciatic nerve may be affected by trauma; ISCHEMIA; COLLAGEN DISEASES; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1363) sciatic neuropathy MONDO:0006961 A fatal disease of the nervous system in sheep and goats, characterized by pruritus, debility, and locomotor incoordination. It is caused by proteinaceous infectious particles called prions. scrapie MONDO:0006962 An adenocarcinoma with sebaceous differentiation. It presents as a painless mass and it may be multifocal. It grows in the ocular adnexae and in the skin of head and neck, trunk, genitals, and extremities. It is characterized by the presence of malignant cells with multivesicular and clear cytoplasm. It may recur and metastasize. adenocarcinoma of the sebaceous gland adenocarcinoma, sebaceous, malignant carcinoma of sebaceous gland carcinoma of the sebaceous gland sebaceous cancer sebaceous carcinoma sebaceous gland adenocarcinoma sebaceous gland carcinoma malignant sebaceous tumor Seba sebaceous adenocarcinoma MONDO:0006963 A benign or malignant neoplasm that arises from the sebaceous glands. Representative examples include sebaceous adenoma and sebaceous carcinoma. neoplasm of sebaceous gland sebaceous gland neoplasm sebaceous gland neoplasm (disease) sebaceous gland tumor sebaceous neoplasm sebaceous tumor tumor of sebaceous gland sebaceous gland neoplasm MONDO:0006964 Overproduction of parathyroid hormone in response to influence external to the parathyroid glands. secondary hyperparathyroidism (disease) secondary hyperparathyroidism secondary hyperparathyroidism (disease) secondary hyperparathyroidism NOS secondary hyperparathyroidism MONDO:0006965 Symmetrical osteitis of the four limbs, chiefly localized to the phalanges and the terminal epiphyses of the long bones of the forearm and leg, sometimes extending to the proximal ends of the limbs and the flat bones, and accompanied by dorsal kyphosis and joint involvement. It is often secondary to chronic conditions of the lungs and heart. (Dorland, 27th ed) Bamberger-Marie disease HPOA - hypertrophic pulmonary osteoarthropathy Marie Bamberger disease hypertrophic pulmonary osteoarthropathy hypertrophic pulmonary osteoarthropathy (disorder) [ambiguous] secondary hypertrophic osteoarthropathy MONDO:0006966 A condition with a clinical picture similar to that of Parkinson disease, but which is caused by external factors, including medication. disorder presenting primarily with parkinsonism secondary Parkinsonism secondary parkinsonism (disorder) [ambiguous] secondary parkinsonism, unspecified symptomatic parkinsonism secondary Parkinson disease MONDO:0006968 Compression of the rotator cuff tendons and subacromial bursa between the humeral head and structures that make up the coracoacromial arch and the humeral tuberosities. This condition is associated with subacromial bursitis and rotator cuff (largely supraspinatus) and bicipital tendon inflammation, with or without degenerative changes in the tendon. Pain that is most severe when the arm is abducted in an arc between 40 and 120 degrees, sometimes associated with tears in the rotator cuff, is the chief symptom. (From Jablonski's Dictionary of Syndromes and Eponymic Diseases, 2d ed) Impingement syndrome of shoulder region shoulder impingement syndrome (disorder) [ambiguous] subacromial impingement shoulder impingement syndrome MONDO:0006969 Sialadenitis is an infection of the salivary glands. It is usually caused by a virus or bacteria. The parotid (in front ofthe ear) and submandibular (under the chin) glands are most commonly affected. Sialadenitis may be associated with pain, tenderness, redness, and gradual, localized swelling of the affected area. Sialadenitis most commonly affects the elderly and chronically ill especially those with dry mouth or who are dehydrated, but can also affected people of any age including newborn babies. Diagnosis is usually made by clinical exam but a CT scan, MRI scan or ultrasound may be done if the doctor suspects an abscess or to look for stones. Treatment may include an antibiotic (if bacterial), warm compresses, increasing fluid intake and good oral hygiene. Most salivary gland infections go away on their own or are cured with treatment. Complications are not common. lymphadenitis (disease) of saliva-secreting gland saliva-secreting gland lymphadenitis (disease) sialitis sialoadenitis adenitis, salivary gland salivary gland inflammation Editor note: TODO check NCIT mapping sialadenitis https://rarediseases.info.nih.gov/diseases/7638/sialadenitis MONDO:0006970 A concretion in the salivary gland. Stone of salivary gland or duct salivary gland Stone sialolith sialolithiasis MONDO:0006971 Tumors or cancer of the sigmoid colon. neoplasm of sigmoid colon sigmoid colon neoplasm sigmoid colon neoplasm (disease) sigmoid colon tumor tumor of sigmoid colon Editor note: NCIT uses rectosigmoid as a region sigmoid neoplasm MONDO:0006972 A form of alveolitis or pneumonitis caused by hypersensitivity to high level of inhaled nitrogen oxides, decomposition products of silage. silo filler disease silo-fillers' disease silo filler's disease silo filler disease MONDO:0006973 A carcinoma arising from the sebaceous glands, sweat glands, or the hair follicles. Representative examples include sebaceous carcinoma, apocrine carcinoma, eccrine carcinoma, and pilomatrical carcinoma. adnexal carcinoma carcinoma of adnexa carcinoma of cutaneous appendage carcinoma of skin appendage carcinoma, adnexal, malignant cutaneous appendage carcinoma skin appendage carcinoma skin adnexal carcinoma skin appendage carcinoma MONDO:0006974 A sarcoma characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm. small cell sarcoma small cell sarcomas small cell sarcoma MONDO:0006975 A benign or malignant myomatous neoplasm arising from smooth muscle. neoplasm of smooth muscle neoplasm of the smooth muscle smooth muscle neoplasm smooth muscle tumor tumor of smooth muscle tumor of the smooth muscle smooth muscle tumor MONDO:0006976 A rare, usually malignant neuroendocrine tumor arizing from delta cells. This neoplasm produces large amounts of somatostatin, which may result in a syndrome characterized by diarrhea, steatorrhea, weight loss, and gastric hyposecretion. Sixty percent are found in the pancreas and 40% in the duodenum or jejunum. The peak incidence occurs between 40 and 60 years of age; women are affected more than men by 2:1. Delta cell tumor somatostatin cell neoplasm somatostatin cell tumor somatostatin cell tumour somatostatin producing tumor somatostatin-producing NET somatostatin-producing neuroendocrine tumor somatostatin-producing tumor somatostatinoma tumor of Delta cells tumor of the Delta cells Somatomedin-secreting carcinoid ampullary somatostatinoma carcinoid somatostatinoma malignant islet cell tumor somatostatin-secreting pancreatic neoplasm somatostatinoma https://rarediseases.info.nih.gov/diseases/4900/somatostatinoma MONDO:0006977 A benign testicular cyst that is located in the epididymis, and which contains serous fluid, lymphocytes, spermatozoa, and debris. spermatocele MONDO:0006978 Insufficiency of arterial or venous blood supply to the spleen due to emboli, thrombi, vascular torsion, or pressure that produces a macroscopic area of necrosis. (From Stedman, 25th ed) splenic infarct splenic infarction infarct of the spleen splenic infarcts splenic infarction MONDO:0006980 An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue. The aberrant thyroid tissue shows morphologic changes identical to thyroid adenoma or carcinoma. Patients may present with abdominal mass and unusual symptoms due to thyrotoxicosis, or Meigs syndrome (ascites and pleural effusion). struma ovarii struma ovarii (morphologic abnormality) struma ovarii NOS (morphologic abnormality) struma ovarii MONDO:0006981 Subacute inflammation of the endocardium. Streptococcus viridans is the usual etiologic agent of subacute bacterial endocarditis. The distinction between "acute" and "subacute" endocarditis has traditionally been made based on the pathogenic organism and clinical presentation. SBE SBE - Subacute bacterial endocarditis Subacute bacterial endocarditis Subacute endocarditis, lenta endocarditis lenta subacute bacterial endocarditis MONDO:0006982 Self-limited inflammation of the thyroid gland characterized by the presence of multinucleated giant cells. Patients present with neck pain, often associated with fever and dysphagia. The clinical course includes an initial phase of hyperthyroidism, followed by a phase of hypothyroidism, and eventually a return to normal thyroid function. De Quervain thyroiditis De Quervain's thyroiditis DeQuervain thyroiditis Subacute granulomatous thyroiditis Subacute thyroiditis de Quervain's thyroiditis giant-cell thyroiditis granulomatous thyroiditis subacute thyroiditis MONDO:0006983 An uncommon neurovascular condition seen with exertion of the upper extremity. It is usually caused by atherosclerotic stenosis or occlusion of the subclavian artery proximal to the origin of the vertebral artery. In order to maintain adequate perfusion of the arm during exercise on the affected side, the narrowed subclavian artery siphons off retrograde blood flow from the ipsilateral vertebral artery. This is possible due to lower blood pressure distal to the site of narrowing and collateral circulation through the circle of Willis. Affected individuals may remain asymptomatic until the oxygen demand generated from upper extremity exercise requires a large enough compensatory volume of blood to be diverted from the vertebral artery to provoke vertebrobasilar insufficiency and its accompanying neurological sequelae. Presenting clinical signs may include pain or numbness of the affected arm (with diminished pulses and a brachial systolic blood pressure differential of greater than 20 mmHg as compared to the opposite arm), vertigo, tinnitus, dysarthria, diplopia and syncope. Notably, unlike cerebral infarction, the clinical course does not lead to chronic neurologic disability. Prognosis for recovery of normal anterograde circulation is favorable following endovascular or surgical intervention. subclavian artery stenosis subclavian steal phenomenon subclavian steal steno-occlusive disease subclavian steal syndrome MONDO:0006984 An intracranial or rarely intraspinal suppurative process invading the space between the inner surface of the dura mater and the outer surface of the arachnoid. subdural abscess subdural empyema MONDO:0006986 An enlarged thyroid gland with at least 50% of the gland situated behind the sternum. It is an unusual presentation of an intrathoracic goiter. Substernal goiters frequently cause compression on the trachea leading to deviation, narrowing, and respiratory symptoms. retrosternal thyroid goiter substernal goiter MONDO:0006987 An aortic stenosis caused by fibromuscular stenosis or hypertrophic cardiomyopathy. It may be associated with congenital heart defects. subvalvular aortic stenosis https://rarediseases.info.nih.gov/diseases/5052/subvalvular-aortic-stenosis MONDO:0006988 A morbid condition due to the presence of sulfmethemoglobin in the blood. It is marked by persistent cyanosis, but the blood count does not reveal any special abnormality in the blood. It is thought to be caused by the action of hydrogen sulfide absorbed from the intestine. (Stedman, 25th ed) Sulfemoglobinemia sulfhemoglobinemia MONDO:0006989 Localized collection of pus in the tissues that enclose the root of a tooth. apical abscess dentoalveolar abscess periapical abscess periapical dental abscess suppurative apical periodontitis suppurative periapical periodontitis MONDO:0006990 Intraocular infection caused mainly by pus-producing bacteria and rarely by fungi. The infection may be caused by an injury or surgical wound (exogenous) or by endogenous septic emboli in such diseases as bacterial endocarditis or meningococcemia. suppurative uveitis MONDO:0006992 Cardiovascular manifestations of syphilis, an infection of treponema pallidum. In the late stage of syphilis, sometimes 20-30 years after the initial infection, damages are often seen in the blood vessels including the aorta and the aortic valve. Clinical signs include syphilitic aortitis, aortic insufficiency, or aortic aneurysm. syphilitic aortitis MONDO:0006993 Heart failure caused by abnormal myocardial contraction during systole leading to defective cardiac emptying. systolic heart failure MONDO:0006994 Tarsal tunnel syndrome is a nerve disorder that is characterized by pain in the ankle, foot, and toes. This condition is caused by compression of the posterior tibial nerve, which runs through a canal near the heel into the sole of the foot. When tissues around this nerve become inflamed, they can press on the nerve and cause the pain associated with tarsal tunnel syndrome. neuropathy of the posterior tibial nerve and its branches posterior tibial nerve neuralgia tarsal tunnel syndrome https://rarediseases.info.nih.gov/diseases/7733/tarsal-tunnel-syndrome MONDO:0006995 A progressive neurological disorder characterized by the limitation of movement of the spinal cord within the spine. It is caused by the presence of congenital or acquired tissue attachments in the spinal cord. Signs and symptoms include low back pain, scoliosis, weakness in the legs, and incontinence. spinal cord syndrome tethered cord tethered spinal cord syndrome MONDO:0006996 Acute onset of severe, life-threatening hyperthyroidism caused by a sudden release of excessive thyroid hormone. thyroid crisis (disease) thyroid crisis thyroid crisis (disease) thyroid storm thyrotoxic crisis thyroid crisis MONDO:0006997 Disease of the tibial nerve (also referred to as the posterior tibial nerve). The most commonly associated condition is the tarsal tunnel syndrome. However, leg injuries; ischemia; and inflammatory conditions (e.g., collagen diseases) may also affect the nerve. Clinical features include paralysis of plantar flexion, ankle inversion and toe flexion as well as loss of sensation over the sole of the foot. (From Joynt, Clinical Neurology, 1995, Ch51, p32) Posterior tibial neuropathy tibial neuropathy (disorder) [ambiguous] tibial neuropathy MONDO:0006998 A primary or metastatic malignant neoplasm that affects the tonsil. cancer of tonsil malignant neoplasm of faucial tonsil malignant neoplasm of palatine tonsil malignant neoplasm of the tonsil malignant neoplasm of tonsil malignant neoplasm of tonsil, faucial malignant tonsil neoplasm malignant tonsil tumor malignant tonsillar neoplasm malignant tonsillar tumor malignant tumor of the tonsil malignant tumor of tonsil tonsil cancer tonsil cancer MONDO:0006999 A disease involving the calcareous tooth. calcareous tooth disease calcareous tooth disease or disorder dental disorder disease of calcareous tooth disease or disorder of calcareous tooth disorder of calcareous tooth tooth disorder tooth disorder MONDO:0007000 An disease caused by infection with Treponema. Treponema caused disease or disorder Treponema disease or disorder Bejels bejel Treponemal infection infection, Treponemal infections, Treponemal Treponema infectious disease MONDO:0007001 Abnormal protrusion of one or more of the leaflets of tricuspid valve into the right atrium during systole. This allows the backflow of blood into right atrium leading to tricuspid valve insufficiency; systolic murmurs. Its most common cause is not primary valve abnormality but rather the dilation of the right ventricle and the tricuspid annulus. tricuspid valve prolapse (disease) tricuspid valve prolapse tricuspid valve prolapse (disease) tricuspid valve prolapse MONDO:0007002 A disease involving the trochlear nerve. IVth cranial nerve disorder IVth nerve disorder disease of trochlear nerve disease or disorder of trochlear nerve disorder of trochlear nerve superior oblique muscle innervation disorder trochlear nerve disease trochlear nerve disease or disorder trochlear nerve disorder trochlear nerve disorder MONDO:0007004 Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides serum sickness and the arthus reaction, evidence supports a pathogenic role for immune complexes in many other immune system diseases including glomerulonephritis, systemic lupus erythematosus (lupus erythematosus, systemic) and polyarteritis nodosa. disorder of type III hypersensitivity immune complex disease type 3 hypersensitivity reaction type III hypersensitivity type III hypersensitivity reaction hypersensitivity reaction type III disease type III hypersensitivity disease MONDO:0007005 Inflammation of the rectum and the distal portion of the colon. ulcerative proctosigmoiditis MONDO:0007006 Disease involving the ulnar nerve from its origin in the brachial plexus to its termination in the hand. Clinical manifestations may include paresis or paralysis of wrist flexion, finger flexion, thumb adduction, finger abduction, and finger adduction. Sensation over the medial palm, fifth finger, and ulnar aspect of the ring finger may also be impaired. Common sites of injury include the axilla, cubital tunnel at the elbow, and Guyon's canal at the wrist. (From Joynt, Clinical Neurology, 1995, Ch51 pp43-5) mononeuropathy of ulnar nerve ulnar nerve mononeuropathy ulnar neuropathy ulnar neuropathy (disorder) [ambiguous] ulnar neuropathy MONDO:0007007 Infections with bacteria of the genus ureaplasma. Ureaplasma caused disease or disorder Ureaplasma disease or disorder Ureaplasma infectious disease Ureaplasma infection infection, Ureaplasma infections, Ureaplasma Ureaplasma urethritis MONDO:0007008 A clinical syndrome associated with the retention of renal waste products or uremic toxins in the blood. It is usually the result of renal insufficiency. Most uremic toxins are end products of protein or nitrogen catabolism, such as urea or creatinine. Severe uremia can lead to multiple organ dysfunctions with a constellation of symptoms. uremia of renal origin uremia MONDO:0007009 The presence of a calculus in the ureter of the kidney; this is most often composed of mineral salts and proteins. calculus of ureter ureteric calculus ureteric stone ureterolithiasis MONDO:0007011 A manifestation of sarcoidosis marked by chronic inflammation of the parotid gland and the uvea. Heerfordt's syndrome uveoparotid fever uveoparotid fever MONDO:0007012 A form of Creutzfeldt-Jakob disease that is most commonly contracted after consuming meat from an animal suffering from bovine spongiform encephalopathy. vCJD variant Creutzfeldt-Jakob disease MONDO:0007013 Inability to achieve and maintain an erection (erectile dysfunction) due to defects in the arterial blood flow to the penis, defect in venous occlusive function allowing blood drainage (leakage) from the erectile tissue (corpus cavernosum penis), or both. vasculogenic impotence MONDO:0007014 Infections with bacteria of the genus vibrio. Vibrio caused disease or disorder Vibrio disease or disorder Vibrio infectious disease vibrio infectious disease vibrio infectious disease MONDO:0007015 Inflammation of the membranes surrounding the brain and spinal cord due to a viral infection. viral meningitis MONDO:0007016 Deficiency of vitamin A due to malnutrition, malabsorption, or dietary lack. It is manifested with reduced night vision, night blindness, and xerophthalmia. vitamin A deficiency (disease) vitamin A deficiency vitamin A deficiency (disease) deficiencies, vitamin A deficiency, vitamin A vitamin A deficiencies vitamin A deficiency MONDO:0007017 Detachment of the vitreous humor from the retina. detachment Of vitreous vitreous, detachment Of vitreous detachment MONDO:0007018 Inflammation of the vulva. It is characterized by pruritus and painful urination. inflammation of mammalian vulva mammalian vulva inflammation vulvitis MONDO:0007019 An inflammatory pathologic process that affects the vulva and the vagina. Vulvo-vaginitis vulvovaginitis MONDO:0007020 An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. thiamine deficiency and chronic alcoholism are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to korsakoff syndrome. (Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3) Wernicke's disease Wernicke's encephalopathy dementia due to thiamine deficiency Wernicke encephalopathy MONDO:0007022 Chronic, destructive infection of the kidney characterized by lipid-laden macrophages in the setting of obstruction secondary to infected renal stones, most commonly caused by Proteus or Escherichia coli. xanthogranulomatous pyelonephritis xanthogranulomatous pyelonephritis MONDO:0007023 Infections with bacteria of the genus yersinia. Yersinia <bacteria> infection yersiniosis Yersinia infection infection, Yersinia infections, Yersinia infections, Yersinia <bacteria> Yersinia infectious disease MONDO:0007024 Infections with bacteria of the species yersinia pseudotuberculosis. infections, Yersinia pseudotuberculosis pseudotuberculosis Pasteurella Pseudotuberculoses Pasteurella pseudotuberculosis Pseudotuberculoses, Pasteurella infection by Pasteurella pseudotuberculosis infection by Yersinia pseudotuberculosis pseudotuberculosis, Pasteurella Yersinia pseudotuberculosis infectious disease MONDO:0007025 The primary sore of syphilis, a painless indurated, eroded papule, occurring at the site of entry of the infection. chancre MONDO:0007027 Fatty replacement and damage to the hepatocytes not related to alcohol use. It may lead to cirrhosis and liver failure. nash - nonalcoholic Steatohepatitis nonalcoholic Steatohepatitis non-alcoholic steatohepatitis MONDO:0007028 Tear of one or more of the tendons of the four rotator cuff muscles of the shoulder. A rotator cuff 'injury' can include any type of irritation or overuse of those muscles or tendons, and is among the most common conditions affecting the shoulder. rotator cuff tear rotator cuff syndrome MONDO:0007029 A syndrome characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts). Branchio-Oto-renal syndrome Branchio-otorenal dysplasia Melnick-Fraser syndrome branchio-oto-renal syndrome branchiootorenal dysplasia branchiootorenal syndrome Branchio oto renal syndrome bor syndrome (From orphanet): Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts). Prevalence is 1/40,000. Renal involvement can lead to chronic renal insufficiency. The expression of the disease varies widely from one family to another and among individuals of the same family. Some families do not present with renal abnormalities or a urinary tree malformation. BOR syndrome is transmitted in an autosomal dominant manner. The causative gene, EYA1, is located on the long arm of chromosome 8. Point mutations and deletions in EYA1 have been identified in approximately 40% of affected individuals. Mutations have also been identified in the SIX1 and SIX5 genes, the products of which interact with EYA1 to form transcription factor complexes. Prenatal testing can be proposed to families in which the disease-causing mutation has been identified, but genetic counseling is difficult because of the clinical heterogeneity between individuals. Management of affected patients includes excision of branchial fistulae or cysts, hearing aids and education programs appropriate for the hearing impaired, and follow-up by a nephrologist. Dialysis or renal transplantation may be required. branchio-oto-renal syndrome MONDO:0007030 Aarskog-Scott syndrome faciogenital dysplasia Aarskog syndrome Aarskog syndrome, autosomal dominant We place the DO class here as it is explicitly AD, but it's not clear if the intent is for the DO class to be equivalent to the classic X-linked form (the DO synonyms suggest this is the case) autosomal dominant Aarskog syndrome MONDO:0007031 An instance of abdominal aortic aneurysm that is caused by an inherited modification of the individual's genome. aortic aneurysm, familial abdominal hereditary abdominal aortic aneurysm familial abdominal aortic aneurysm MONDO:0007032 Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes. Obrinsky syndrome Obrisnksy syndrome abdominal muscle deficiency syndrome eagle-Barret syndrome prune belly syndrome syndrome of agenesis of abdominal muscles triad syndrome PBS abdominal muscles, absence of, with urinary tract Abnormality and cryptorchidism eagle-Barrett syndrome prune belly syndrome MONDO:0007033 Paralysis of the abducens nerve. VIth nerve disorder VIth nerve paralysis abducens nerve cranial nerve palsy abducens nerve weakness abducent nerve paralysis cranial nerve palsy of abducens nerve disorder of abducent nerve lateral rectus muscle denervation paresis lateral rectus muscle innervation disorder sixth cranial nerve disorder sixth nerve palsy sixth nerve paralysis sixth or abducens nerve palsy 6th nerve palsy VI nerve palsy abducens nerve disease abducens palsy cranial mononeuropathy VI cranial nerve VI palsy sixth cranial nerve palsy abducens nerve palsy MONDO:0007034 Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects. https://github.com/monarch-initiative/mondo/issues/5682 AOS Adams Oliver syndrome congenital scalp defects with distal limb anomalies congenital scalp defects with distal limb reduction anomalies limb, scalp and skull defects limb scalp and skull defects Adams-Oliver syndrome https://rarediseases.info.nih.gov/diseases/5739/adams-oliver-syndrome MONDO:0007035 A melanotic cutaneous lesion that develops in the axilla and other body folds. It may be idiopathic, drug-induced, or it may be associated with the presence of an endocrine disorder or malignancy. acanthosis nigricans (disease) acanthosis nigricans acanthosis nigricans (disease) an - acanthosis nigricans keratosis nigricans acanthosis nigricans MONDO:0007036 A rare genetic syndrome featuring connective tissue abnormalities. Clinical signs include brachycephaly, arachnodactyly, receding mandible and joint laxity at the hands and feet. Achard syndrome arachnodactyly, receding lower jaw and joint laxity of hands/feet Achard syndrome https://rarediseases.info.nih.gov/diseases/8176/achard-syndrome MONDO:0007037 Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia. https://github.com/monarch-initiative/mondo/issues/4948 achondroplasia achondroplastic physique chondrodystrophia osteosclerosis congenita ach achondroplastic dwarfism achondroplasia https://rarediseases.info.nih.gov/diseases/8173/achondroplasia MONDO:0007038 Achoo syndrome Peroutka sneeze autosomal dominant compelling Helioophthalmic outburst syndrome autosomal dominant compelling helio ophthalmic outburst syndrome photic sneeze reflex sneezing from Light exposure Achoo syndrome MONDO:0007039 A tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas. acoustic neurofibromatosis NF2 bilateral acoustic neurofibromatosis central neurofibromatosis neurofibromatosis 2 neurofibromatosis type 2 acoustic Schwannomas, bilateral acoustic neurinoma bilateral acoustic neurinoma, bilateral acoustic schwannomas bilateral neurofibromatosis central type neurofibromatosis type II neurofibromatosis, central type neurofibromatosis, type 2 neurofibromatosis, type II neurofibromatosis type 2 MONDO:0007040 An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections. ACPS with leg hypoplasia Sakati-Nyhan syndrome Sakati-Nyhan-Tisdale syndrome acrocephalopolysyndactyly type 3 acrocephalopolysyndactyly type III ACPS 3 ACPS3 Sakati syndrome Sakati-Nyhan syndrome MONDO:0007041 Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly. https://github.com/monarch-initiative/mondo/issues/4948 ACS1 acrocephalosyndactyly type 1 acrocephalosyndactyly type I apert syndrome type I Acrocephalosyndactyly ACS 1 ACS 2 Vogt Cephalodactyly acrocephalo-syndactyly type 1 acrocephalosyndactyly, type 1 acrocephalosyndactyly, type 2 apert-Crouzon disease syndactylic oxycephaly apert syndrome MONDO:0007042 Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 ACS3 SCS Saethre-Chotzen syndrome Saethre-Chotzen syndrome with or without eyelid anomalies acrocephalosyndactyly type 3 type III Acrocephalosyndactyly ACS 3 Chotzen syndrome Saethre-Chotzen syndrome with eyelid anomalies acrocephalo-syndactyly, type 3 acrocephalosyndactyly type III acrocephalosyndactyly, type 3 acrocephaly, skull asymmetry, and mild syndactyly blepharophimosis, epicanthus inversus, and ptosis 3 blepharophimosis, epicanthus inversus, and ptosis 3, formerly blepharophimosis,epicanthus inversus, and ptosis 3 (formerly) Saethre-Chotzen syndrome https://rarediseases.info.nih.gov/diseases/7598/saethre-chotzen-syndrome MONDO:0007043 Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations. https://github.com/monarch-initiative/mondo/issues/4948 ACS5 Pfeiffer syndrome acrocephalosyndactylia type V acrocephalosyndactyly type 5 acrocephalosyndactyly type V type V Acrocephalosyndactyly ACS 5 Noack syndrome Pfeiffer type acrocephalosyndactyly acrocephalosyndactyly, type 5 craniofacial-skeletal-Dermatologic dysplasia Pfeiffer syndrome https://rarediseases.info.nih.gov/diseases/7380/pfeiffer-syndrome MONDO:0007044 An autosomal dominant skeletal dysplasia caused by mutation(s) in the PRKAR1A gene, encoding cAMP-dependent protein kinase type I-alpha regulatory subunit. It is characterized by short stature, brachydactyly, and characteristic facial features. Resistance to multiple hormones is a common finding. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 acrodysostosis 1 acrodysostosis 1 with or without hormone resistance acrodysostosis 1, with or without hormone resistance ACRDYS1 ADOHR acrodysostosis 1 with or without hormone resistance MONDO:0007045 Acrofacialdysostosis, Catania type is a very rare type of acrofacialdysostosis characterized by mild intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males. https://github.com/monarch-initiative/mondo/issues/5588 Opitz Mollica Sorge syndrome Opitz-Caltabiano syndrome acrofacial dysostosis, Catania type AFD Catania type Afd, Catania type acrofacial dysostosis Catania type acrofacial dysostosis, Catania type MONDO:0007046 A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis. acrokeratoderma, hereditary papulotranslucent hereditary papulotranslucent acrokeratoderma MONDO:0007047 Acrokeratoelastoidosis of Costa is a rare dermatosis characterized by small, firm papules or plaques (resembling warts) on the sides of the hands and feet. These stationary and asymptomatic lesions appear generally at puberty, or sometimes later https://github.com/monarch-initiative/mondo/issues/4521 PPKP3 acrokeratoelastoidosis of Costa ake keratoderma, palmoplantar, punctate type 3 punctate palmoplantar hyperkeratosis type 3 punctate palmoplantar keratoderma type 3 NTIA TIA acrokeratoelastoidosis aganglionosis, total colonic collagenous plaques of hand and feet collagenous plaques of hands and feet near-total intestinal aganglionosis palmoplantar keratoderma, punctate type 3 palmoplantar keratoderma, punctate type III rare form of Hirschsprung's disease Unclear as to whether this is inherited or acquired see https://github.com/Orphanet/ORDO/issues/3 punctate palmoplantar keratoderma type III MONDO:0007048 A rare genetic skin keratinization disorder with an autosomal dominant mode of inheritance. It is characterized by numerous flesh-colored warty papules on the back of the hands, medial aspect of the feet, knees, and elbows. AKV of Hopf Hopf disease acrokeratosis verruciformis acrokeratosis verruciformis of Hopf AKV acrokeratosis verruciformis MONDO:0007049 acroleukopathy, symmetric acroleukopathy, symmetric MONDO:0007050 acromegaloid changes, cutis verticis gyrata, and corneal leukoma acromegaly-cutis verticis gyrata-corneal leukoma syndrome Rosenthal-Kloepfer syndrome acromegaloid changes, cutis verticis gyrata and corneal leukoma acromegaloid changes, cutis verticis gyrata, and corneal leukoma https://rarediseases.info.nih.gov/diseases/500/acromegaloid-changes-cutis-verticis-gyrata-and-corneal-leukoma MONDO:0007051 Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome. acromegaloid facial appearance syndrome AFA syndrome thick lips and oral mucosa acromegaloid facial appearance syndrome https://rarediseases.info.nih.gov/diseases/501/acromegaloid-facial-appearance-syndrome MONDO:0007052 https://github.com/monarch-initiative/mondo/issues/4521 pituitary adenoma 1, multiple types, autosomal dominant, somatic mutation pituitary adenoma predisposition, autosomal dominant, somatic mutation pituitary adenoma, growth hormone-secreting, type 1 PAGH1 PITA1 Somatotrophinoma, familial acromegaly due to pituitary adenoma 1 familial isolated pituitary adenoma syndrome isolated familial somatotropinoma pituitary adenoma 1, multiple types pituitary adenoma predisposition pituitary adenoma, familial isolated pituitary adenoma, growth hormone-secreting, 1 somatotropinoma, familial isolated Editor note: consider splitting OMIM growth hormone secreting pituitary adenoma 1 MONDO:0007053 https://github.com/monarch-initiative/mondo/issues/4882 restless legs syndrome, susceptibility to, 1 Ekbom syndrome RLS1 acromelalgia, hereditary restless legs syndrome, susceptibility to, 1 MONDO:0007054 acromial dimples supraspinous fossae, congenital acromial dimples MONDO:0007055 Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands. https://github.com/monarch-initiative/mondo/issues/4948 acromicric dysplasia ACMICD acromicric skeletal dysplasia acromicric dysplasia https://rarediseases.info.nih.gov/diseases/7/acromicric-dysplasia MONDO:0007056 A condition that is characterized by degeneration of the distal phalanges. acroosteolysis acroosteolysis MONDO:0007057 Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics. https://github.com/monarch-initiative/mondo/issues/4948 Arthrodentoosteodysplasia Cheney syndrome Hajdu-Cheney syndrome acrodentoosteodysplasia acroosteolysis with osteoporosis and changes in skull and mandible serpentine fibula polycystic kidney syndrome serpentine fibula-polycystic kidney syndrome serpentine fibula-polycystic kidneys syndrome HJCYS acroosteolysis dominant type https://rarediseases.info.nih.gov/diseases/508/acroosteolysis-dominant-type MONDO:0007058 Acropectorovertebral dysplasia is a skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones). https://github.com/monarch-initiative/mondo/issues/4948 F syndrome acropectorovertebral dysplasia ACRPV acropectorovertebral dysplasia F form acropectorovertebral dysplasia https://rarediseases.info.nih.gov/diseases/512/acropectorovertebral-dysplasia-f-form MONDO:0007059 Acrorenal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected. acrorenal syndrome acrorenal syndrome MONDO:0007060 Any azoospermia in which the cause of the disease is a mutation in the SPATA16 gene. SPATA16 azoospermia azoospermia caused by mutation in SPATA16 spermatogenic failure 6 spermatogenic failure type 6 SPGF6 acrosome malformation of spermatozoa globozoospermia round-headed spermatozoa spermatozoa, round-headed spermatogenic failure 6 MONDO:0007062 Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia). https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4948 Adactyly of hand, unilateral digits 2-5 hypodactyly, unilateral digits 2-5 oligodactyly, unilateral adactylia unilateral adactylia, unilateral terminal transverse defects of hand, unilateral congenital absence/hypoplasia of fingers excluding thumb, unilateral https://rarediseases.info.nih.gov/diseases/377/adactylia-unilateral MONDO:0007064 A form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections. https://github.com/monarch-initiative/mondo/issues/4200 https://github.com/monarch-initiative/mondo/issues/4521 ADA ADA deficiency ADA-SCID SCID due to ADA deficiency SCID due to ADA deficiency, early-onset SCID due to adenosine deaminase deficiency adenosine deaminase deficiency adenosine deaminase deficiency, partial, Autosomal recessive, Somatic mosaicism adenosine deaminase deficient severe combined immunodeficiency severe combined immunodeficiency due to ADA deficiency, Autosomal recessive, Somatic mosaicism severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency SCID due to ADA deficiency, delayed onset SCID due to ADA deficiency, late-onset adenosine deaminase deficiency, partial partial ADA deficiency severe combined immunodeficiency due to ADA deficiency severe combined immunodeficiency due to adenosine deaminase deficiency severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency https://rarediseases.info.nih.gov/diseases/5748/adenosine-deaminase-deficiency MONDO:0007066 adenosine triphosphatase deficiency, anemia due to adenosine triphosphatase deficiency anemia anemia due to adenosine triphosphatase deficiency adenosine triphosphatase deficiency, anemia due to https://rarediseases.info.nih.gov/diseases/548/anemia-due-to-adenosine-triphosphatase-deficiency MONDO:0007067 Autosomal dominant phenotype characterized by increase of red blood cell ATP. pyruvate kinase hyperactivity adenosine triphosphate, elevated, of erythrocytes pyruvate kinase hyperactivity MONDO:0007068 Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features. ADSL deficiency adenylosuccinase deficiency adenylosuccinate lyase deficiency inborn (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity disorder inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity rare inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity ADSLD Adsl deficiency adenylosuccinase lyase deficiency adenylosuccinate lyase deficiency MONDO:0007070 Adiposis dolorosa or Dercum's disease is characterised by the development of multiple, painful, subcutaneous lipomas in association with obesity, asthenia and fatigue, and range of mental disturbances including instability, depression, confusion, dementia and epilepsy. Adiposalgia Dercum disease Neurolipomatosis adipose tissue rheumatism adiposis dolorosa lipomatosis dolorosa Dercum's disease adiposis dolorosa https://rarediseases.info.nih.gov/diseases/5750/adiposis-dolorosa MONDO:0007071 https://github.com/monarch-initiative/mondo/issues/4069 adrenocortical hypofunction, chronic primary congenital Addison disease, congenital adrenocortical hypofunction, chronic primary congenital MONDO:0007072 ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia. ADULT syndrome acro-dermato-ungual-lacrimal-tooth syndrome acrodermatounguallacrimaltooth syndrome pigment anomaly-ectrodactyly-hypodontia syndrome acro dermato ungual lacrimal tooth syndrome acro-dermato-ungual-lacrimal-Tooth syndrome ADULT syndrome MONDO:0007073 Hanhart syndrome is a rare condition that primarily affects the craniofacial region and the limbs (arms and legs). People affected by this condition are often born with a short, incompletely developed tongue; absent or partially missing fingers and/or toes; abnormalities of the arms and/or legs; and an extremely small jaw. The severity of these physical abnormalities varies greatly among affected people, and children with this condition often have some, but not all, of the symptoms. The cause of Hanhart syndrome is not fully understood. Treatment depends on the signs and symptoms present in each person. https://github.com/monarch-initiative/mondo/issues/4948 Hanhart syndrome Jussieu syndrome aglossia-adactylia syndrome aglossia adactylia aglossia-adactylia hypoglossia-hypodactylia hypoglossia-hypodactylia syndrome oromandibular limb hypoplasia peromelia with micrognathia peromelia with micrognathism hypoglossia-hypodactyly syndrome MONDO:0007074 Spontaneous autoamputation of a digit, usually the fifth toe. It results from the formation of a fibrotic band which constricts the full radius of the digit and eventually causes the spontaneous autoamputation. https://github.com/monarch-initiative/mondo/issues/3605 ainhum (disease) Dactylolysis Dactylolysis spontanea ainhum ainhum (disease) spontaneous dactylolysis ainhum MONDO:0007075 https://github.com/monarch-initiative/mondo/issues/4069 alacrima, congenital alacrimia congenita alacrimia congenita, autosomal dominant alacrima, congenital, autosomal dominant MONDO:0007077 Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair. Tietz albinism-deafness syndrome Tietz syndrome albinism-deafness of Tietz hypopigmentation-deafness syndrome hypopigmentation/deafness of Tietz TADS Editor note: consider classification under albinism Tietz syndrome https://rarediseases.info.nih.gov/diseases/7772/tietz-syndrome MONDO:0007078 A type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO). https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5682 AHO-PHP syndrome Ia Albright hereditary osteodystrophy Albright hereditary osteodystrophy with multiple hormone resistance Albright hereditary osteodystrophy-PHP syndrome Ia Albright's hereditary osteodystrophy PHP1A pseudohypoparathyroidism Ia pseudohypoparathyroidism type 1A AHO PHP 1A pseudohypoparathyroidism, type 1A pseudohypoparathyroidism, type IA pseudohypoparathyroidism type 1A MONDO:0007079 Physical and psychological dependence on alcohol. https://github.com/monarch-initiative/mondo/issues/4521 alcohol dependence alcoholism aerodigestive tract cancer, squamous cell, alcohol-related, protection against alcohol dependence, protection against alcohol dependence, susceptibility to alcohol dependence MONDO:0007080 Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol. https://github.com/monarch-initiative/mondo/issues/4521 FH-I FH1 GRA aldosteronism, glucocorticoid-remediable dexamethasone-sensitive hypertension familial hyperaldosteronism type 1 glucocorticoid-remediable aldosteronism glucocorticoid-sensitive hypertension ACTH-dependent hyperaldosteronism syndrome FH 1 HALD1 aldosteronism, sensitive to dexamethasone dexamethasone sensitive hypertension familial hyperaldosteronism type I glucocorticoid sensitive hypertension glucocorticoid-suppressible hyperaldosteronism hyperaldosteronism, familial type 1 hyperaldosteronism, familial, type 1 hyperaldosteronism, familial, type I glucocorticoid-remediable aldosteronism https://rarediseases.info.nih.gov/diseases/2790/glucocorticoid-remediable-aldosteronism MONDO:0007082 alopecia areata 1 AA1 alopecia universalis alopecia areata 1 MONDO:0007083 Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. https://github.com/monarch-initiative/mondo/issues/4521 PPK-CA, Stevanovic type autosomal dominant palmoplantar hyperkeratosis and congenital alopecia palmoplantar keratoderma and congenital alopecia type 1 palmoplantar keratoderma and congenital alopecia, Stevanovic type palmoplantar keratoderma with congenital alopecia PPKCA1 Ppkca, Stevanovic type alopecia congenita with hyperkeratosis of the palms and soles keratoderma-hypotrichosis-leukonychia totalis syndrome palmoplantar keratoderma and congenital alopecia 1 autosomal dominant palmoplantar keratoderma and congenital alopecia https://rarediseases.info.nih.gov/diseases/604/autosomal-dominant-palmoplantar-keratoderma-and-congenital-alopecia MONDO:0007084 alopecia, familial focal ALPF familial focal alopecia MONDO:0007085 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant. https://github.com/monarch-initiative/mondo/issues/5588 Shokeir syndrome alopecia, epilepsy, pyorrhea, mental subnormality alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality congenital universal alopecia, epilepsy, mental subnormality and pyorrhea alopecia-epilepsy-pyorrhea-intellectual disability syndrome MONDO:0007086 Autosomal dominant Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance.Alport syndrome has autosomal dominant inheritance in about 5 percent of cases. People with this form of Alport syndrome have one mutation in either the COL4A3 or COL4A4 gene in each cell. https://github.com/monarch-initiative/mondo/issues/4521 Alport syndrome 3, autosomal dominant Alport syndrome, autosomal dominant Alport syndrome dominant type renal failure and sensorineural hearing loss autosomal dominant Alport syndrome https://rarediseases.info.nih.gov/diseases/624/autosomal-dominant-alport-syndrome MONDO:0007087 Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A2 gene. ATP1A2 alternating hemiplegia of childhood alternating hemiplegia of childhood 1 alternating hemiplegia of childhood caused by mutation in ATP1A2 alternating hemiplegia of childhood type 1 AHC1 alternating hemiplegia of childhood 1 MONDO:0007088 https://github.com/monarch-initiative/mondo/issues/4521 early-onset familial form of Alzheimer disease Alzheimer disease 1, familial AD AD1 Alzheimer disease Alzheimer disease 1 Alzheimer disease, early-onset, with cerebral amyloid angiopathy Alzheimer disease, familial, 1 Alzheimer disease, late-onset, susceptibility to Alzheimer disease, protection against Alzheimer disease, susceptibility to presenile and senile dementia Alzheimer disease type 1 https://rarediseases.info.nih.gov/diseases/9465/alzheimer-disease-type-1 MONDO:0007089 An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele. https://github.com/monarch-initiative/mondo/issues/3947 AD2 Alzheimer disease 2 Alzheimer disease 2, late onset Alzheimer disease associated with APOE E4 Alzheimer disease associated with APOE4 Alzheimer disease type 2 Alzheimer disease-2 Alzheimer's disease 2 Alzheimer's disease type 2 late onset Alzheimer disease late onset familial Alzheimer disease late-onset familial alzheimer disease Alzheimer disease 2, late-onset LOFAD Alzheimer disease 2 MONDO:0007090 amastia, bilateral, with ureteral triplication and dysmorphism amastia, bilateral, with ureteral triplication and dysmorphism MONDO:0007091 amelia and terminal transverse hemimelia amelia and terminal transverse hemimelia MONDO:0007092 Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ENAM gene. AI1B ENAM amelogenesis imperfecta amelogenesis imperfecta caused by mutation in ENAM amelogenesis imperfecta caused by mutation in enam amelogenesis imperfecta type IB autosomal dominant hypoplastic local amelogenesis imperfecta enam amelogenesis imperfecta hereditary localized enamel hypoplasia AIH2 amelogenesis imperfecta, hypoplastic local, autosomal dominant amelogenesis imperfecta, type 1B amelogenesis imperfecta, type IB enamel hypoplasia, hereditary localized amelogenesis imperfecta type 1B MONDO:0007093 Any amelogenesis imperfecta in which the cause of the disease is a mutation in the DLX3 gene. AI4 AIHHT DLX3 amelogenesis imperfecta amelogenesis imperfecta caused by mutation in DLX3 amelogenesis imperfecta hypomaturation-hypoplastic type with taurodontism amelogenesis imperfecta type 4 amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism amelogenesis imperfecta, type 4 amelogenesis imperfecta, type IV hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism MONDO:0007094 Any amelogenesis imperfecta in which the cause of the disease is a mutation in the LAMB3 gene. AI1A LAMB3 amelogenesis imperfecta amelogenesis imperfecta caused by mutation in LAMB3 amelogenesis imperfecta hypoplastic type IA amelogenesis imperfecta type IA amelogenesis imperfecta local hypoplastic amelogenesis imperfecta, hypoplastic type 1A amelogenesis imperfecta, type 1A amelogenesis imperfecta, type IA local hypoplastic amelogenesis imperfecta Not in the OMIM series. amelogenesis imperfecta type 1A https://rarediseases.info.nih.gov/diseases/645/amelogenesis-imperfecta-local-hypoplastic MONDO:0007095 ameloonychohypohidrotic syndrome amelo-onycho-hypohidrotic syndrome hypocalcified-hypoplastic enamel, onycholysis with subungual hyperkeratosis, and hypohidrosis ameloonychohypohidrotic syndrome https://rarediseases.info.nih.gov/diseases/647/ameloonychohypohidrotic-syndrome MONDO:0007096 amenorrhea-galactorrhea syndrome amenorrhea-galactorrhea syndrome MONDO:0007097 amyloidosis, MERETOJA type familial amyloid polyneuropathy type IV familial amyloidosis, Finnish type gelsolin amyloidosis hereditary amyloidosis, Finnish type meretoja syndrome AGel amyloidosis amyloid cranial neuropathy with lattice corneal dystrophy amyloidosis 5 amyloidosis V amyloidosis due to mutant gelsolin amyloidosis, Finnish type amyloidosis, Meretoja type cerebral amyloid angiopathy, Gsn-related corneal dystrophy, lattice type 2 hereditary gelsolin amyloidosis lattice corneal dystrophy type II Finnish lattice corneal dystrophy, type 2 meretoja type amyloidosis Finnish type amyloidosis MONDO:0007098 Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages. https://github.com/monarch-initiative/mondo/issues/4521 cerebral amyloid angiopathy CST3-related amyloidosis HCHWA, Icelandic type amyloidosis VI amyloidosis, Cerebroarterial, Icelandic type cerebral hemorrhage, hereditary, with amyloidosis cystatin amyloidosis hereditary cerebral hemorrhage with amyloidosis hereditary cerebral hemorrhage with amyloidosis, Icelandic type hereditary cystatin C amyloid angiopathy CST3-related cerebral amyloid angiopathy amyloidosis 6 cerebral amyloid angiopathy, CST3-related ACys amyloidosis MONDO:0007099 https://github.com/monarch-initiative/mondo/issues/4521 German type amyloidosis Ostertag type amyloidosis amyloidosis, 3 or more types amyloidosis, Ostertag type amyloidosis, familial renal amyloidosis, renal familial amyloid nephropathy familial renal amyloidosis hereditary amyloid nephropathy hereditary renal amyloidosis systemic nonneuropathic amyloidosis amyloidosis 8 amyloidosis VIII amyloidosis familial renal amyloidosis familial visceral amyloidosis systemic nonneuropathic amyloidosis, familial visceral amyloidosis, systemic Nonneuropathic hereditary amyloidosis with primary renal involement familial visceral amyloidosis https://rarediseases.info.nih.gov/diseases/8282/amyloidosis-familial-visceral MONDO:0007100 Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur. ATTRV30M-related amyloidosis Corino de Andrade's disease TTR amyloid neuropathy TTR amyloidosis amyloid Neuropathies, familial amyloidosis, hereditary, transthyretin-related familial amyloid neuropathy familial amyloid polyneuropathy familial amyloid polyneuropathy type I familial amyloid polyneuropathy type I (Portuguese-Swedish-Japanese type) familial amyloid polyneuropathy, Portuguese-Swedish-Japanese type familial transthyretin amyloidosis paramyloidosis transthyretin amyloid neuropathy transthyretin amyloid polyneuropathy transthyretin-related hereditary amyloidosis ATTRV30M amyloidosis amyloid cardiomyopathy, transthyretin-related amyloid polyneuropathy, familial amyloidosis transthyretin related amyloidosis, leptomeningeal, transthyretin-related hereditary amyloidosis, transthyretin-related transthyretin amyloidosis familial amyloid neuropathy MONDO:0007101 FPLCA hereditary primary cutaneous amyloidosis primary localized cutaneous amyloidosis familial primary localized cutaneous amyloidosis MONDO:0007102 amyotrophic dystonic paraplegia amyotrophic dystonic paraplegia MONDO:0007103 https://github.com/monarch-initiative/mondo/issues/4521 ALS1 amyotrophic lateral sclerosis 1 amyotrophic lateral sclerosis type 1 FALS amyotrophic lateral sclerosis 1, autosomal dominant amyotrophic lateral sclerosis 1, autosomal dominant amyotrophic lateral sclerosis 1, autosomal recessive, included amyotrophic lateral sclerosis 1, autosomal recessive amyotrophic lateral sclerosis 1, familial amyotrophic lateral sclerosis, autosomal dominant amyotrophic lateral sclerosis, familial amyotrophic lateral sclerosis, sporadic amyotrophic lateral sclerosis, sporadic, included amyotrophic lateral sclerosis, susceptibility to amyotrophic lateral sclerosis type 1 MONDO:0007104 https://github.com/monarch-initiative/mondo/issues/4521 Guam disease Lytico-Bodig disease Lytigo-Bodig disease PDALS Parkinsonism-dementia-ALS complex amyotrophic lateral sclerosis-Parkinsonism/dementia Complex type 1 amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome ALS-pDC amyotrophic lateral sclerosis, Parkinsonism/dementia complex of Guam amyotrophic lateral sclerosis-PARKINSONISM/dementia complex 1 amyotrophic lateral sclerosis-Parkinsonism/dementia Complex of Guam amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to amyotrophic lateral sclerosis-parkinsonism-dementia complex MONDO:0007105 Any frontotemporal dementia with motor neuron disease in which the cause of the disease is a mutation in the C9orf72 gene. ALSFTD C9ORF72 frontotemporal dementia with motor neuron disease C9orf72 frontotemporal dementia with motor neuron disease FTDMND amyotrophic lateral sclerosis and/or frontotemporal dementia frontotemporal dementia and/or amyotrophic lateral sclerosis 1 frontotemporal dementia and/or amyotrophic lateral sclerosis type 1 frontotemporal dementia and/or motor neuron disease frontotemporal dementia with motor neuron disease caused by mutation in C9ORF72 frontotemporal dementia with motor neuron disease caused by mutation in C9orf72 FTDALS1 frontotemporal dementia and/or amyotrophic lateral sclerosis frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MONDO:0007106 anal sphincter dysplasia ASDP anal sphincter dysplasia https://rarediseases.info.nih.gov/diseases/9822/anal-sphincter-dysplasia MONDO:0007107 anal sphincter myopathy, internal proctalgia fugax due to anal sphincter myopathy anal sphincter myopathy, internal MONDO:0007108 A carcinoma that arises from epithelial cells of the anal canal anal canal cancer anal canal and perianal gland cancer anal canal and perianal gland carcinoma anal canal carcinoma carcinoma of anal canal carcinoma of the anal canal cloacogenic carcinoma anal canal carcinoma MONDO:0007109 Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 CDA III CDA type 3 CDA type III congenital dyserythropoietic anemia type 3 dyserythropoietic anemia, congenital, type III CDA 3 CDAN3 Erythroreticulosis, hereditary benign anemia with multinucleated erythroblasts anemia, congenital dyserythropoietic, type III dyserythropoietic Anemia, congenital, type 3 dyserythropoietic anemia, congenital type 3 congenital dyserythropoietic anemia type 3 MONDO:0007110 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS19 gene. DBA Diamond-Blackfan Anemia type 1 Diamond-Blackfan anemia 1 Diamond-Blackfan anemia caused by mutation in RPS19 RPS19 Diamond-Blackfan anemia Aase syndrome Aase-Smith syndrome 2 Blackfan-Diamond syndrome DBA1 Red cell aplasia, Pure, hereditary anemia, congenital erythroid hypoplastic anemia, congenital hypoplastic, of Blackfan and Diamond aregenerative Anemia, chronic congenital erythrogenesis imperfecta Diamond-Blackfan anemia 1 MONDO:0007111 ANIB1 aneurysm, intracranial berry, 1 aneurysmal subarachnoid hemorrhage, familial aneurysm, intracranial berry type 1 MONDO:0007112 Interventricular septum aneurysm is a rare, non-syndromic, congenital heart malformation characterized by the presence of a congenital aneurysm of the membranous portion of the interventricular septum. Patients may be asymptomatic or may present with ventricular or supraventricular tachycardia, fatigue, exertional dyspnea, palpitations, and cardiac murmur. Ventricular septal defects and conduction defects, such as first-degree atrio-ventricular block or incomplete right bundle branch block, may also be also associated. aneurysm of interventricular septum interventricular septum aneurysm MONDO:0007113 A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features. https://github.com/monarch-initiative/mondo/issues/3941 https://github.com/monarch-initiative/mondo/issues/5588 Angelman syndrome happy puppet syndrome puppetlike syndrome Angelman syndrome (Type 1) Angelman syndrome (Type 2) AS Angelman syndrome chromosome region happy puppet syndrome (formerly) happy puppet syndrome, formerly Angelman syndrome MONDO:0007114 Angel-shaped phalango-epiphyseal dysplasia (ASPED) is a form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age. https://github.com/monarch-initiative/mondo/issues/4948 ASPED ANGEL-SHAPED PHALANGOEPIPHYSEAL dysplasia Angel shaped phalangoepiphyseal dysplasia angel-shaped phalango-epiphyseal dysplasia MONDO:0007115 angioma serpiginosum, autosomal dominant autosomal dominant angioma serpiginosum angioma serpiginosum, autosomal dominant https://rarediseases.info.nih.gov/diseases/10189/angioma-serpiginosum-autosomal-dominant MONDO:0007116 Hereditary neurocutaneous angioma is characterised by the association of cerebral and cutaneous angiomatous lesions. It has been described in less than 10 families. Clinical manifestations of the cerebral lesions include epilepsy, cerebral haemorrhage, and focal neurological deficit. Transmission is autosomal dominant. hereditary neurocutaneous angioma angioma hereditary neurocutaneous angioma, hereditary neurocutaneous hemangiomatosis, disseminated hereditary neurocutaneous malformation spinal arterial Venous malformations with cutaneous hemangiomas hereditary neurocutaneous angioma MONDO:0007118 Any anhidrosis in which the cause of the disease is a mutation in the ITPR2 gene. Dann-Epstein-Sohar syndrome ITPR2 anhidrosis anhidrosis caused by mutation in ITPR2 ANHD anhidrosis, isolated, with normal sweat glands isolated generalized anhidrosis with normal sweat glands isolated anhidrosis with normal sweat glands MONDO:0007119 Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris. nonsyndromic aniridia aniridia without systemic involvement isolated aniridia MONDO:0007120 Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975. aniridia absent patella aniridia and absent patella familial syndrome of aniridia and absence of the patella aniridia-absent patella syndrome https://rarediseases.info.nih.gov/diseases/685/aniridia-absent-patella MONDO:0007121 aniridia, microcornea, and spontaneously Reabsorbed cataract aniridia, microcornea, and spontaneously Reabsorbed cataract MONDO:0007122 Unequal pupil size, which may represent a benign physiologic variant or a manifestation of disease. Pathologic anisocoria reflects an abnormality in the musculature of the iris (iris diseases) or in the parasympathetic or sympathetic pathways that innervate the pupil. Physiologic anisocoria refers to an asymmetry of pupil diameter, usually less than 2mm, that is not associated with disease. anisocoria (disease) anisocoria anisocoria (disease) anisocoria MONDO:0007123 ankyloblepharon filiforme adnatum AFA ankyloblepharon filiforme adnatum and cleft palate ankyloblepharon filiforme adnatum cleft palate ankyloblepharon filiforme congenitum congenital filiform fusion of the eyelids with cleft palate and/or cleft lip ankyloblepharon filiforme adnatum-cleft palate syndrome MONDO:0007124 Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate. https://github.com/monarch-initiative/mondo/issues/4948 AEC syndrome ankyloblepharon-ectodermal defects-cleft lip and palate syndrome hay-Wells syndrome Aec syndrome Rapp-Hodgkins syndrome Seres-Santamaria Arimany Muniz syndrome ankyloblepharon ectodermal defects cleft lip/palate ankyloblepharon-ectodermal defects-cleft LIP/palate cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects ankyloblepharon-ectodermal defects-cleft lip/palate syndrome MONDO:0007125 A developmental abnormality in which the bottom of the tongue is attached to the floor of the mouth. FUSED to floor of mouth ankyloglossia tongue-tie 'tongue-Tie' ankyloglossia MONDO:0007126 Any spondyloarthropathy, susceptibility to in which the cause of the disease is a mutation in the HLA-B gene. HLA-B spondyloarthropathy, susceptibility to spondyloarthropathy, susceptibility to caused by mutation in HLA-B spondyloarthropathy, susceptibility to, 1 spondyloarthropathy, susceptibility to, type 1 Bechterew syndrome Marie-Strumpell spondylitis SPDA1 ankylosing spondylitis, susceptibility to susceptibility to spondyloarthropathy 1 spondyloarthropathy, susceptibility to, 1 MONDO:0007127 This syndrome is characterized by the association of ankylosing vertebral hyperostosis with hyperkeratosis of the soles and palms. Forestier's disease ankylosing vertebral hyperostosis diffuse idiopathic skeletal hyperostosis dish disseminated idiopathic skeletal hyperostosis Forestier disease ankylosing vertebral hyperostosis with tylosis diffuse idiopathic skeletal hyperostosis MONDO:0007128 annular erythema annular erythema MONDO:0007129 Any tooth agenesis in which the cause of the disease is a mutation in the MSX1 gene. https://github.com/monarch-initiative/mondo/issues/4521 MSX1 tooth agenesis tooth agenesis caused by mutation in MSX1 tooth agenesis, selective, 1 tooth agenesis, selective, 1, with or without orofacial cleft tooth agenesis, selective, type 1 STHAG1 hypodontia/oligodontia 1 hypodontia/oligodontia with orofacial cleft second premolars and third molars, absence of tooth agenesis, familial tooth agenesis, selective, with orofacial cleft tooth agenesis, selective, 1 MONDO:0007130 Total pulmonary venous return (TAPVR) is a form of congenital pulmonary venous return where all of the pulmonary veins drain into the right atrium or one of its tributaries, instead of the left atrium, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure. https://github.com/monarch-initiative/mondo/issues/4069 TAPVR pulmonary venolobar syndrome total anomalous pulmonary venous return TAPVR1 anomalous pulmonary Venous return scimitar anomaly scimitar syndrome total anomalous pulmonary VENOUS return 1 congenital total pulmonary venous return anomaly MONDO:0007131 Anonychia with flexural pigmentation is characterised by anonychia and skin abnormalities (hyper- and hypopigmentation in axillae and groins, dry palmar and plantar skin leading to sore and cracked soles). It has been described in a mother and her two children. The mode of transmission is autosomal dominant. anonychia with flexural pigmentation anonychia with flexural pigmentation MONDO:0007132 anonychia-ectrodactyly anonychia ectrodactyly anonychia-ectrodactyly https://rarediseases.info.nih.gov/diseases/708/anonychia-ectrodactyly MONDO:0007133 Kumar-Levick syndrome anonychia-onychodystrophy with brachydactyly type b and ectrodactyly autosomal dominant onychodystrophy and anonychia with type B brachydactyly and ectrodactyly anonychia-onychodystrophy with brachydactyly type b and ectrodactyly https://rarediseases.info.nih.gov/diseases/711/anonychia-onychodystrophy-with-brachydactyly-type-b-and-ectrodactyly MONDO:0007134 Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized. https://github.com/monarch-initiative/mondo/issues/4948 Cooks syndrome ODP anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome anonychia and absence/hypoplasia of distal phalanges anonychia-onychodystrophy with hypoplasia or absence of distal phalanges Cooks syndrome MONDO:0007135 https://github.com/monarch-initiative/mondo/issues/4069 nonsyndromic congenital nail disorder type 6 NDNC6 absent nails and dystrophic nails anonychia, partial anonychia/hyponychia and onychodystrophy nail disorder, nonsyndromic congenital, 6 onychodystrophy-anonychia nonsyndromic congenital nail disorder 6 MONDO:0007136 anorectal anomalies genetic anorectal anomalies MONDO:0007137 This syndrome is characterised by total or partial anosmia at birth. So far, 15 patients have been described. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. The mode of transmission appears to be autosomal dominant with incomplete penetrance. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome. https://github.com/monarch-initiative/mondo/issues/3834 ANIC anosmia, congenital anosmia, isolated congenital congenital anosmia isolated congenital anosmia MONDO:0007138 https://github.com/monarch-initiative/mondo/issues/4521 anterior segment dysgenesis 1 anterior segment dysgenesis 1, multiple subtypes ASGD1 ASMD anterior segment mesenchymal dysgenesis anterior segment ocular dysgenesis anterior segment dysgenesis 1 MONDO:0007142 Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart. TBS Townes syndrome Townes-Brocks syndrome imperforate anus with hand, foot and ear anomalies rear syndrome renal-ear-anal-radial syndrome sensorineural deafness with imperforate anus and hypoplastic thumbs TBS1 Townes-Brocks syndrome 1 Townes-Brocks-branchiootorenal-like syndrome anus, imperforate, with hand, foot and ear anomalies anus, imperforate, with hand, foot, and Ear anomalies deafness, sensorineural, with imperforate anus and hypoplastic thumbs deafness, sensorineural, with imperforate anus and thumb anomalies renal-Ear-anal-radial syndrome Townes-Brocks syndrome https://rarediseases.info.nih.gov/diseases/7784/townes-brocks-syndrome MONDO:0007143 Aortic arch anomaly-peculiar facies-intellectual disability syndrome is a developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968. https://github.com/monarch-initiative/mondo/issues/5588 aortic arch anomaly - peculiar facies - intellectual disability aortic arch anomaly with peculiar facies and intellectual disability aortic arch anomaly with peculiar facies and mental retardation aortic arch anomaly-peculiar facies-intellectual disability syndrome familial syndrome of right-sided aortic arch, mental deficiency, and facial dysmorphism aortic arch anomaly-facial dysmorphism-intellectual disability syndrome MONDO:0007144 aortic arch interruption, facial palsy, and retinal coloboma aortic arch interruption, facial palsy, and retinal coloboma MONDO:0007145 Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies. aplasia cutis congenita (disease) aplasia cutis congenita aplasia cutis congenita (disease) aplasia cutis congenita recessive ACC aplasia cutis congenita nonsyndromic aplasia cutis congenita, nonsyndromic congenital defect of skull and scalp scalp defect congenital scalp defect, congenital aplasia cutis congenita MONDO:0007147 Cessation of air flow during sleep due to upper airway obstruction. obstructive sleep apnea obstructive sleep apnea syndrome Apneas, obstructive sleep OSAHS Osa apnea, obstructive sleep obstructive sleep Apneas sleep Apneas, obstructive sleep apnea hypopnea syndrome sleep apnea syndrome, obstructive sleep apnea/hypopnea syndrome syndrome, obstructive sleep apnea syndrome, sleep apnea, obstructive syndrome, upper airway resistance, sleep apnea upper airway resistance sleep apnea syndrome obstructive sleep apnea syndrome MONDO:0007148 appendicitis, proneness to appendicitis, susceptibility appendicitis, proneness to MONDO:0007150 A corneal disease in which there is a deposition of phospholipid and cholesterol in the corneal stroma and anterior sclera. arcus of cornea arcus senilis corneal arcus arcus corneae arcus senilis MONDO:0007151 arms, malformation of arms, malformation of MONDO:0007152 Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TGFB3 gene. ARVC1 ARVD1 TGFB3 arrhythmogenic right ventricular cardiomyopathy arrhythmogenic right ventricular cardiomyopathy 1 arrhythmogenic right ventricular cardiomyopathy caused by mutation in TGFB3 arrhythmogenic right ventricular dysplasia type 1 arrhythmogenic right ventricular dysplasia, familial, type 1 familial arrhythmogenic right ventricular dysplasia 1 Uhl anomaly arrhythmogenic right ventricular dysplasia, familial, 1 cardiomyopathy, right ventricular dilated arrhythmogenic right ventricular dysplasia 1 MONDO:0007153 arteries, anomalies of arteries, anomalies of MONDO:0007154 Cerebral arteriovenous malformation (AVM) is a congenital malformative communication between the veins and the arteries in the brain in the form of a nidus, an anatomical structure composed of dilated and tangled supplying arterioles and drainage veins with no intervening capillary bed, that can be asymptomatic or cause, depending on the location and the size of the AVM, headaches of varying severity, generalized or focal seizures, focalneurological defects (weakness, numbness, speech difficulties, vision loss) or potentially fatal intracranial hemorrhage in case the AVM ruptures. https://github.com/monarch-initiative/mondo/issues/4521 arteriovenous malformation of the brain, somatic arteriovenous malformations of the brain cerebral arteriovenous malformation intracranial arteriovenous malformation intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to, somatic mutation Bavm cerebral arteriovenous malformations intracranial AVM intracranial hemorrhage in brain arteriovenous malformations, susceptibility to arteriovenous malformations of the brain MONDO:0007155 arteritis, familial granulomatous, with juvenile polyarthritis arteritis, familial granulomatous, with juvenile polyarthritis MONDO:0007156 arthritis, sacroiliac arthritis, sacroiliac MONDO:0007157 https://github.com/monarch-initiative/mondo/issues/4521 arthrogryposis multiplex congenita AMC DA1A arthrogryposis, distal, type 1A arthrogryposis multiplex congenita, distal, type 1 arthrogryposis, distal, type 1 arthrogryposis, distal, type 2B4 arthrogryposis, distal, type 1A MONDO:0007158 Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal. arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome distal arthrogryposis type 5 distal arthrogryposis type IIB distal arthrogryposis with ophthalmoplegia oculomelic amyoplasia Arthogryposis with oculomotor limitation and electroretinal abnormalities DA5 arthrogryposis ophthalmoplegia retinopathy arthrogryposis with oculomotor limitation and electroretinal abnormalities arthrogryposis, distal, type 2B arthrogryposis, distal, type 5 arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome https://rarediseases.info.nih.gov/diseases/4047/distal-arthrogryposis-type-5 MONDO:0007159 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome is characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed. distal arthrogryposis type 6 DA6 arthrogryposis and sensorineural deafness arthrogryposis, distal, type 6 arthrogryposis-like hand anomaly and sensorineural deafness familial hand abnormality and sensori-neural deafness arthrogryposis-like hand anomaly-sensorineural deafness syndrome MONDO:0007160 https://github.com/monarch-initiative/mondo/issues/4948 Stickler syndrome type 1 STL1 Stickler syndrome, membranous vitreous type Stickler syndrome, type 1 Stickler syndrome, type I Stickler syndrome, vitreous type 1 arthroophthalmopathy, hereditary progressive Stickler syndrome type 1 MONDO:0007161 SPGF2 spermatogenic failure 2 Aspermiogenesis Factor spermatogenic failure 2 MONDO:0007162 asymmetric short stature syndrome asymmetric short stature syndrome MONDO:0007163 Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia. https://github.com/monarch-initiative/mondo/issues/5753 CACNA1A hereditary episodic ataxia episodic ataxia type 2 hereditary episodic ataxia caused by mutation in CACNA1A APCA Acetazolamide-responsive episodic ataxia syndrome Acetazolamide-responsive hereditary paroxysmal cerebellar ataxia Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia CAPA Cerebellopathy, hereditary paroxysmal EA2 Nystagmus-associated episodic ataxia ataxia, episodic, with Nystagmus ataxia, familial paroxysmal ataxia, familial, paroxysmal cerebellar ataxia, paroxysmal, Acetazolamide-responsive episodic ataxia with nystagmus episodic ataxia, Nystagmus-associated episodic ataxia, type 2 familial paroxysmal ataxia episodic ataxia type 2 MONDO:0007164 Any autosomal dominant spastic ataxia in which the cause of the disease is a mutation in the VAMP1 gene. SPAX1 VAMP1 autosomal dominant spastic ataxia autosomal dominant spastic ataxia caused by mutation in VAMP1 spastic ataxia type 1 autosomal dominant spastic ataxia type 1 spastic ataxia 1, autosomal dominant spastic ataxia 1 MONDO:0007165 Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present. SPAX7 autosomal dominant spastic ataxia type 7 spastic ataxia type 7 miosis, congenital, with spastic ataxia spastic ataxia 7, autosomal dominant spastic ataxia with congenital miosis spastic ataxia 7 MONDO:0007166 ataxia with fasciculations ataxia with fasciculations MONDO:0007167 Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings. https://github.com/monarch-initiative/mondo/issues/4948 AO1 AOI atelosteogenesis type 1 giant cell chondrodysplasia spondylo-humero-femoral dysplasia atelosteogenesis, type 1 atelosteogenesis, type I spondylohumerofemoral hypoplasia atelosteogenesis type I MONDO:0007168 A skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings. https://github.com/monarch-initiative/mondo/issues/4948 AO3 AOIII atelosteogenesis type 3 Aoiii atelosteogenesis, type 3 atelosteogenesis, type III atelosteogenesis type III MONDO:0007169 https://github.com/monarch-initiative/mondo/issues/4521 ATHS atherosclerosis susceptibility atherosclerosis, susceptibility to Atherogenic lipoprotein phenotype atherosclerosis susceptibility MONDO:0007170 atresia of external auditory canal and conductive deafness atresia of external auditory canal and conductive deafness MONDO:0007171 Any atrial standstill in which the cause of the disease is a mutation in the GJA5 gene. https://github.com/monarch-initiative/mondo/issues/4521 GJA5 atrial standstill atrial standstill 1 atrial standstill caused by mutation in GJA5 atrial standstill type 1 atrial standstill, digenic (GJA5/SCN5A) ATRST1 atrial cardiomyopathy with heart block cardiomyopathy, familial, with conduction disturbance atrial standstill 1 MONDO:0007172 An atrial heart septal defect type 1 associated with variation in the region 5p. ASD1 atrial heart septal defect type 1 atrial septal defect 1 ASD 1 ASD 2 atrial septal defect, primum type atrial septal defect, secundum type atrial septal defect 1 MONDO:0007173 Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block. ASD with or without atrioventricular conduction defects NKX2-5 atrial heart septal defect atrial heart septal defect caused by mutation in NKX2-5 atrial heart septal defect type 7 atrial septal defect 7, with or without AV conduction defects atrial septal defect-atrioventricular conduction defects syndrome ASD7 atrial septal defect 7 with or without atrioventricular conduction defects atrial septal defect 7 MONDO:0007174 Lown-Ganong-Levine syndrome is an extremely rare conduction disorder characterized by a short PR interval (less than or equal to 120 ms) with normal QRS complex on electrocardiogram associated with the occurrence of episodes of atrial tachyarrythmias (e.g. atrial fibrillation, atrial tachycardia). LGL syndrome Lown-Ganong-Levine syndrome atrial tachyarrhythmia with short PR interval syndrome of short P-R interval, normal QRS complexes, and supraventricular tachycardias Lown-Ganong-Levine syndrome MONDO:0007175 PR interval, variation in PR interval, variation type in Atrioventricular conduction time, variation in PR interval, variation in MONDO:0007176 Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease. SCRA Sveinsson chorioretinal atrophy atrophia areata SVEINSSON chorioretinal atrophy helicoidal peripapillary chorioretinal Degeneration peripapillary chorioretinal Degeneration, Icelandic type helicoid peripapillary chorioretinal degeneration MONDO:0007177 Auriculoosteodysplasia is a very rare condition characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and somewhat short stature. auriculoosteodysplasia auriculo-osteodysplasia multiple osseous dysplasia, characteristic ear shape, and short stature auriculoosteodysplasia https://rarediseases.info.nih.gov/diseases/8663/auriculoosteodysplasia MONDO:0007178 aurocephalosyndactyly Auralcephalosyndactyly Kurczynski-Casperson syndrome aural cephalosyndactyly aurocephalosyndactyly MONDO:0007179 A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis). autoimmune disease autoimmune disease or disorder autoimmune disorder disease, autoimmune autoimmune hypersensitivity disease hypersensitivity reaction type II disease Editor note: check OMIM autoimmune disease MONDO:0007180 Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities De Hauwere syndrome iris dysplasia with ocular hypertelorism, psychomotor retardation, and sensorineural deafness Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities MONDO:0007181 axial osteomalacia atypical osteomalacia involving the axial skeleton axial osteomalacia https://rarediseases.info.nih.gov/diseases/8431/axial-osteomalacia MONDO:0007182 Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations. Azorean disease Azorean disease of the nervous system MJD Machado disease Machado-Joseph disease Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia SCA3 autosomal dominant striatonigral degeneration spinocerebellar ataxia 3 spinocerebellar ataxia type 3 Azorean neurologic disease Nigrospinodentatal Degeneration Spinopontine atrophy spinocerebellar atrophy 3 spinocerebellar atrophy type 3 Machado-Joseph disease MONDO:0007183 azotemia, familial azotemia, familial MONDO:0007184 AGA1 alopecia, androgenetic, 1 baldness, Male pattern alopecia, androgenetic, 1 MONDO:0007185 Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965. Banki syndrome fusion of the lunate and cuneiform bones of the wrist, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis) Banki syndrome https://rarediseases.info.nih.gov/diseases/813/banki-syndrome MONDO:0007186 A chronic disorder characterized by reflux of the gastric and/or duodenal contents into the distal esophagus. It is usually caused by incompetence of the lower esophageal sphincter. Symptoms include heartburn and acid indigestion. It may cause injury to the esophageal mucosa. GERD GERD - gastro-esophageal reflux disease Gastresophageal reflux acid reflux gastro-esophageal reflux gastroesophageal reflux gastroesophageal reflux disease gastroesophageal reflux, pediatric ger gastroesophageal reflux disease MONDO:0007187 A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities. Gorlin syndrome Gorlin-Goltz syndrome NBCCS basal cell nevus syndrome multiple basal cell carcinomas nevoid basal cell cancer syndrome nevoid basal cell carcinoma syndrome BCNS multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies nevoid basal cell carcinoma syndrome MONDO:0007188 Primary basilar impression (PBI) is a very rare skeletal developmental defect characterized by congenital upward translocation of the upper cervical spine and clivus into the foramen magnum. PBI can be asymptomatic or associated with severe neurological dysfunction. Bull-Nixon syndrome basilar impression, primary primary basilar impression primary basilar invagination MONDO:0007190 leukemia, chronic lymphocytic, susceptibility to, 2 leukemia, chronic lymphocytic, susceptibility to, type 2 B-cell malignancy, low-grade Clls2 disrupted in B-cell malignancy leukemia, chronic lymphocytic, B-cell leukemia, chronic lymphocytic, susceptibility to, 2 MONDO:0007191 A chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations. Adamantiades-Behcet disease Bechet syndrome Behcet disease Behcet syndrome Behcet's syndrome Behet's syndrome Behçet disease Behçet syndrome Behçet's syndrome Behçet-Adamantiades syndrome Morbus Behçet's syndrome silk road disease triple symptom complex BD Behcet's disease Behçet's disease Behçet’s disease Behcet disease MONDO:0007192 AABT BETA-amino acids, renal TRANSPORT OF taurine renal reabsorption beta-amino acids, renal transport of MONDO:0007193 PBC1 Pbc biliary cirrhosis, primary, 1 primary biliary cholangitis 1 MONDO:0007194 A rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection). familial BAV AOVD1 aortic valve disease 1 aortic valve disease type 1 familial bicuspid aortic valve MONDO:0007195 bifid nose, autosomal dominant bifid nose, autosomal dominant MONDO:0007197 bladder diverticulum (disease) bladder diverticulum bladder diverticulum (disease) diverticulum - bladder diverticulum of bladder bladder diverticulum MONDO:0007198 Ascher syndrome is a very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported. Ascher syndrome blepharochalasis and Double type lip blepharochalasis-double lip syndrome Ascher's syndrome Double upper lip, blepharochalasis and enlargement of the thyroid blepharochalasis - double lip blepharochalasis and DOUBLE LIP blepharochalasis and Double lip blepharochalasis and double lip Ascher syndrome https://rarediseases.info.nih.gov/diseases/201/ascher-syndrome MONDO:0007199 blepharochalasis, superior blepharochalasis, superior MONDO:0007200 Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability. https://github.com/monarch-initiative/mondo/issues/5588 Pashayan syndrome Pashayan-Prozansky syndrome blepharonasofacial malformation syndrome blepharonasofacial malformation syndrome https://rarediseases.info.nih.gov/diseases/4238/blepharonasofacial-malformation-syndrome MONDO:0007201 Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) is an ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type I) or without premature ovarian failure (POF) (type II). https://github.com/monarch-initiative/mondo/issues/4521 blepharophimosis types 1 and 2 blepharophimosis, epicanthus inversus, and ptosis, type 1 blepharophimosis, epicanthus inversus, and ptosis, type 2 blepharophimosis, ptosis, and epicanthus inversus syndrome BPES BPES type 1 BPES with Duane retraction syndrome BPES with ovarian failure BPES with premature ovarian failure BPES without ovarian failure BPES, type 1 BPES, type 2 BPES, type I, autosomal recessive blepharophimosis syndrome type 1 blepharophimosis, ptosis, and epicanthus inversus blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 blepharophimosis, ptosis, epicanthus inversus syndrome blepharophimosis, ptosis, epicanthus inversus with ovarian failure blepharophimosis-epicanthus inversus-ptosis syndrome blepharophimosis, ptosis, and epicanthus inversus syndrome MONDO:0007202 This syndrome is characterised by bilateral congenital blepharoptosis, ectopia lentis and high myopia. blepharoptosis myopia ectopia lentis blepharoptosis, myopia, and ectopia lentis dominantly inherited blepharoptosis, high myopia, and ectopia lentis blepharoptosis-myopia-ectopia lentis syndrome MONDO:0007203 Blue rubber bleb nevus (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia. BRBN bean syndrome blue rubber bleb nevus BRBNS blue rubber bleb nevus syndrome blue rubber bleb nevus MONDO:0007204 Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the P4HB gene. https://github.com/monarch-initiative/mondo/issues/4948 Cole-Carpenter syndrome 1 Cole-Carpenter syndrome caused by mutation in P4HB Cole-Carpenter syndrome type 1 P4HB Cole-Carpenter syndrome CLCRP1 COLE-CARPENTER syndrome 1 bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive Facial features Cole-Carpenter syndrome 1 MONDO:0007205 Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma). https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/4985 DMS-MFH Hardcastle syndrome Hardcastle's syndrome bone dysplasia-medullary fibrosarcoma syndrome diaphyseal medullary stenosis-bone malignancy syndrome diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome BDMF DMSMFH bone dysplasia with malignant fibrous histiocytoma bone dysplasia with medullary fibrosarcoma diaphyseal medullary stenosis with malignant fibrous histiocytoma myopathy, limb-girdle, with bone fragility diaphyseal medullary stenosis-bone malignancy syndrome MONDO:0007206 bone pain, periodic bone pain, periodic MONDO:0007207 Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics. Böök syndrome book syndrome PHC syndrome premolar aplasia, hyperhidrosis, and canities prematura Böök syndrome MONDO:0007208 Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing. https://github.com/monarch-initiative/mondo/issues/4948 Boomerang dysplasia Boomerang-like skeletal dysplasia dwarfism with short, bowed, rigid limbs and characteristic facies Boomerang dysplasia https://rarediseases.info.nih.gov/diseases/933/boomerang-dysplasia MONDO:0007209 Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature. Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption of permanent teeth. Delayed ambulation is also frequently associated. Weismann-Netter syndrome Weismann-Netter-Stuhl syndrome anterior bowing of legs with dwarfism Toxopachyosteose Diaphysaire Tibio-Peroniere WEISMANN-NETTER syndrome WNS Weismann Netter syndrome bowing of legs, anterior with dwarfism bowing of legs, anterior, with dwarfism Weismann-Netter syndrome MONDO:0007210 Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay MONDO:0007211 Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50. https://github.com/monarch-initiative/mondo/issues/4948 Bilginturan brachydactyly Bilginturan syndrome brachydactyly type E, with short stature and hypertension HTNB brachydactyly type E with short stature and hypertension brachydactyly with hypertension brachydactyly, type E, with short stature and hypertension hypertension and brachydactyly syndrome brachydactyly-arterial hypertension syndrome MONDO:0007212 Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981. brachydactyly, long thumb type brachydactyly long thumb type brachydactyly, long-thumb type long-thumb brachydactyly syndrome brachydactyly-long thumb syndrome https://rarediseases.info.nih.gov/diseases/968/brachydactyly-long-thumb-type MONDO:0007213 Ballard syndrome is characterized by hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals. In contrast to brachydactyly type E, patients with Ballard syndrome have normal stature. Ballard type brachydactyly Pitt-Williams brachydactyly brachydactyly types B and E combined Pitt Williams brachydactyly brachydactyly Ballard type brachydactyly combined B and E types brachydactyly, Ballard type brachydactyly, combined B and E types Ballard syndrome MONDO:0007214 Preaxial brachydactyly-hallux varus syndrome is characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits. Christian brachydactyly preaxial brachydactyly with hallux varus and thumb abduction brachydactyly preaxial with hallux varus and thumb abduction brachydactyly, preaxial, with hallux varus and thumb abduction dominant preaxial brachydactyly with hallux varus and thumb abduction brachydactyly-preaxial hallux varus syndrome MONDO:0007215 Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges. https://github.com/monarch-initiative/mondo/issues/4948 BDA1 Farabee type brachydactyly brachydactyly, Farabee type Farabee-type brachydactyly brachydactyly Farabee type brachydactyly, type A1 brachydactyly type A1 https://rarediseases.info.nih.gov/diseases/978/brachydactyly-type-a1 MONDO:0007216 Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger. BDA2 Mohr-Wriedt type brachydactyly brachydactyly, Mohr-Wriedt type brachymesophalangy II Brachymesophalangy 2 Brachymesophalangy type 2 brachydactyly, type A2 brachydactyly type A2 https://rarediseases.info.nih.gov/diseases/979/brachydactyly-type-a2 https://rarediseases.info.nih.gov/diseases/989/brachymesophalangy-type-2 MONDO:0007217 BDA3 brachydactyly-clinodactyly brachymesophalangy V Brachymesophalangy 5 brachydactyly, type A3 brachydactyly type A3 https://rarediseases.info.nih.gov/diseases/963/brachydactyly-type-a3 MONDO:0007218 Brachydactyly type A4 (BDA4) is a congenital malformation characterized by brachymesophalangy affecting mainly the 2nd and the 5th digit. BDA4 Brachymesophalangy II and V Temtamy type brachydactyly brachydactyly, Temtamy type brachymesophalangy II and V Brachymesophalangy 2 and 5 brachydactyly Temtamy type brachydactyly, type A4 brachydactyly type A4 https://rarediseases.info.nih.gov/diseases/990/brachydactyly-type-a4 MONDO:0007219 A brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant. https://github.com/monarch-initiative/mondo/issues/4948 BDA6 Osebold-Remondini syndrome brachydactyly type A6 brachydactyly, type A6 brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities Brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities OSEBOLD-Remondini syndrome Osebold-Remondini syndrome https://rarediseases.info.nih.gov/diseases/983/brachydactyly-type-a6 MONDO:0007220 Any brachydactyly type B in which the cause of the disease is a mutation in the ROR2 gene. https://github.com/monarch-initiative/mondo/issues/4948 BDB1 ROR2 brachydactyly type B brachydactyly type B caused by mutation in ROR2 brachydactyly, type B brachydactyly, type B1 brachydactyly type B1 MONDO:0007221 https://github.com/monarch-initiative/mondo/issues/4948 brachydactyly type C brachydactyly Haws type brachydactyly, Haws type brachydactyly, type C brachydactyly type C MONDO:0007222 A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has material basis in mutation in the HOXD13 gene on chromosome 2q31.1. https://github.com/monarch-initiative/mondo/issues/4948 BDD brachydactyly, type D stub thumb brachydactyly type D MONDO:0007223 Any brachydactyly type E in which the cause of the disease is a mutation in the HOXD13 gene. https://github.com/monarch-initiative/mondo/issues/4948 BDE1 HOXD13 brachydactyly type E brachydactyly type E caused by mutation in HOXD13 brachydactyly, type E brachydactyly, type E1 brachydactyly type E1 MONDO:0007224 brachydactyly, type E, with atrial septal defect, type II brachydactyly, type E, with atrial septal defect, type 2 MONDO:0007225 Fibular aplasia-ectrodactyly syndrome is characterized by fibular aplasia and ectrodactyly. Less than 50 familial and sporadic cases have been reported in the literature. Shortening of the femur, a curved tibia, severe foot anomalies and pathologies of the hip, knee and ankle may also be present. The disorder is probably inherited as an autosomal dominant trait, with reduced penetrance, especially in females. brachydactyly-ectrodactyly with fibular aplasia or hypoplasia fibular aplasia ectrodactyly fibular aplasia-ectrodactyly syndrome MONDO:0007226 Brachydactyly-nystagmus-cerebellar ataxia syndrome is characterized by brachydactyly, nystagmus and cerebellar ataxia. Intellectual deficit and strabismus are also reported in some patients. Biemond syndrome Biemond syndrome type 1 brachydactyly - nystagmus - cerebellar ataxia brachydactyly, nystagmus and cerebellar ataxia brachydactyly-NYSTAGMUS-cerebellar ataxia Editor note: check GARD brachydactyly-nystagmus-cerebellar ataxia syndrome https://rarediseases.info.nih.gov/diseases/881/biemond-syndrome-type-1 MONDO:0007227 Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic. brachydactyly-symphalangism syndrome brachydactyly-distal symphalangism syndrome Sillence syndrome MONDO:0007228 brachymesomelia-renal syndrome brachymesomelia renal syndrome severe upper limb brachymesomelia, glomerulocystic renal dysplasia, cranial and facial abnormalities, corneal opacities brachymesomelia-renal syndrome MONDO:0007229 Brachymetatarsus type 4 BRACHYMETATARSUS IV metatarsus IV, short toe, fourth, short Brachymetatarsus 4 MONDO:0007230 Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants. Brachymorphism-onychodysplasia-dysphalangism syndrome Senior syndrome bod syndrome Brachymorphism onychodysplasia dysphalangism syndrome Brachymorphism-onychodysplasia-dysphalangism syndrome MONDO:0007231 Brachytelephalangy - dysmorphism - Kallmann syndrome is a developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome). Brachytelephalangy - dysmorphism - Kallmann syndrome has been described in a mother and her son and there have been no further descriptions in the literature since 1986. BRACHYTELEPHALANGY with characteristic facies and Kallmann syndrome brachytelephalangy-dysmorphism-Kallmann syndrome MONDO:0007232 Autosomal dominant brachyolmia is a relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood. https://github.com/monarch-initiative/mondo/issues/4948 brachyolmia type 3 brachyolmia, autosomal dominant BCYM3 brachyolmia autosomal dominant brachyrachia autosomal dominant brachyolmia MONDO:0007233 A congenital defect in the neck that occurs during early embryonic development. It is caused by developmental abnormalities of the pharyngeal arches and results in the development of a cyst or a fissure in the side of the neck. branchial cleft branchial cleft remnant second branchial cleft cyst second branchial cleft fistula branchial cleft anomalies branchial cysts second branchial cleft anomaly MONDO:0007234 branchial myoclonus with spastic paraparesis and cerebellar ataxia branchial myoclonus with spastic paraparesis and cerebellar ataxia MONDO:0007235 Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth. BOFS branchiooculofacial syndrome BOFS syndrome Bof syndrome branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature Aging branchio-oculo-facial syndrome hemangiomatous branchial clefts-Lip Pseudocleft syndrome lip Pseudocleft-Hemangiomatous branchial cyst syndrome branchiooculofacial syndrome https://rarediseases.info.nih.gov/diseases/3212/branchiooculofacial-syndrome MONDO:0007236 https://github.com/monarch-initiative/mondo/issues/4521 branchiootorenal syndrome 1 branchiootorenal syndrome 1, with or without cataracts branchiootorenal syndrome type 1 BOR1 Melnick-Fraser syndrome branchiootorenal dysplasia branchiootorenal syndrome 1 MONDO:0007237 Familial juvenile hypertrophy of the breast is a rare breast malformation disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal. familial juvenile gigantomastia juvenile gigantomastia juvenile macromastia virginal breast hypertrophy virginal mammary hypertrophy JHB gigantomastia, juvenile hypertrophy of the breast, juvenile familial juvenile hypertrophy of the breast MONDO:0007238 Absence of one or both mammary glands. https://github.com/monarch-initiative/mondo/issues/4449 amastia BNAH1 absent breasts and nipples amazia athelia breasts and/or nipples, aplasia or hypoplasia of, 1 complete absence of breasts amastia https://rarediseases.info.nih.gov/diseases/9489/absent-breasts-and-nipples MONDO:0007239 A rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic. BCIE EHK EI bullous congenital ichthyosiform erythroderma bullous congenital ichthyosiform erythroderma of Brock bullous ichthyosis epidermolytic hyperkeratosis epidermolytic ichthyosis epidermolytic palmoplantar hyperkeratosis ichthyosis hystrix Brocq type autosomal dominant epidermolytic ichthyosis bullous erythroderma Ichthyosiformis congenita of Brocq bullous ichthyosiform erythroderma bullous ichthyosiform erythroderma congenita congenital bullous ichthyosiform erythroderma epidermolytic hyperkeratosis, late-onset Editor note: check this. Should there be a generic form as well as AD form? Form for each gene? epidermolytic ichthyosis MONDO:0007240 An autosomal dominant inherited cardiac bundle branch disorder which can progress to complete heart block. https://github.com/monarch-initiative/mondo/issues/4521 Lenegre's disease PFHB1A SCN5A progressive familial heart block heart block, progressive, type IA progressive familial heart block caused by mutation in SCN5A progressive familial heart block, type IA Cardiac conduction defect, nonprogressive Cardiac conduction defect, progressive Lenegre disease Lenegre's syndrome Lenegre-Lev disease Lev disease heart block progressive familial type 1 heart block, nonprogressive heart block, progressive familial, type 1 hereditary bundle branch system defect progressive familial heart block type 1A progressive familial heart block type IA Editor note: consider separating aquired and inherited progressive familial heart block, type 1A MONDO:0007241 bundle branch block, familial isolated complete right bundle branch block, familial isolated complete right MONDO:0007242 Butyrylesterase type 1 butyrylesterase 1 butyrylesterase 1 MONDO:0007243 Burkitt lymphoma is a rare form of malignant mature B-cell non-Hodgkin lymphoma. https://github.com/monarch-initiative/mondo/issues/4521 Burkitt lymphoma Burkitt lymphoma/leukaemia Burkitt's lymphoma Burkitt's tumor Burkitt's tumor or lymphoma burkitt lymphoma, somatic malignant lymphoma, Burkitt's type small non-cleaved cell lymphoma small non-cleaved cell lymphoma, Burkitt's type BL Burkitt lymphoma MONDO:0007244 Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described. https://github.com/monarch-initiative/mondo/issues/4948 Caffey disease cortical congenital hyperostosis infantile cortical hyperostosis Caffey disease MONDO:0007245 A cutaneous disorder characterized by the presence of several cafe-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder. NF6 autosomal dominant café au lait spots cafe-au-lait spots, multiple familial cafe-au-lait spots familial café-au-lait spots multiple cafe-au-lait spots multiple cafe-au-lait syndrome multiple café-au-lait spots multiple café-au-lait syndrome neurofibromatosis type 6 cafe au lait spots, multiple https://rarediseases.info.nih.gov/diseases/3967/autosomal-dominant-cafe-au-lait-spots MONDO:0007246 calcific aortic disease with immunologic abnormalities, familial calcific aortic disease with immunologic abnormalities, familial MONDO:0007247 basal ganglia calcification, idiopathic, childhood-onset IBGC childhood onset IBGC, childhood-onset bilateral striopallidodentate calcinosis childhood-onset cerebral calcification nonarteriosclerotic idiopathic childhood-onset cerebral calcification, nonarteriosclerotic, idiopathic, childhood-onset idiopathic basal ganglia calcification childhood-onset striopallidodentate calcinosis, bilateral, childhood-onset Not in the OMIM series. basal ganglia calcification, idiopathic, childhood-onset https://rarediseases.info.nih.gov/diseases/9598/idiopathic-basal-ganglia-calcification-childhood-onset MONDO:0007248 Hereditary painful callosities is a nummular palmoplantar keratoderma characterized by the development of painful keratotic lesions over pressure points in hands and feet. A few families have been described. Transmission is autosomal dominant. Successful analgesia can be obtained with tretinoin. PPK nummularis Plamoplantar hyperkeratosis nummularis Plamoplantar keratoderma nummularis keratosis palmoplantaris nummularis callosities, hereditary painful callosities, painful plantar hereditary painful callosities MONDO:0007249 Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972. camptobrachydactyly short foot/brachydactyly of toes, camptodactyly, brachydactyly camptobrachydactyly https://rarediseases.info.nih.gov/diseases/1062/camptobrachydactyly MONDO:0007250 Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected. CAMPD1 camptodactyly 1 camptodactyly and knuckle pads crooked little finger, familial familial streblodactyly minor streblomicrodactyly, familial streblodactyly camptodactyly of fingers https://rarediseases.info.nih.gov/diseases/9448/familial-streblodactyly MONDO:0007251 Campomelic dysplasia is a very rare disorder characterised by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations). https://github.com/monarch-initiative/mondo/issues/4948 CMD acampomelic campomelic dysplasia campomelic dwarfism campomelic dysplasia CMPD1 Cmd1 Cmpd Cmpd1/Sra1 acampomelic campomelic dysplasia with autosomal Sex reversal campomelic dysplasia with autosomal Sex reversal camptomelic dysplasia Editor note: consider adding grouping class for related disorders campomelic dysplasia MONDO:0007252 An extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition. Gordon syndrome camptodactyly-cleft palate-clubfoot syndrome distal arthrogryposis type 3 distal arthrogryposis type IIA DA3 arthrogryposis distal type 3 arthrogryposis multiplex congenita, distal, type 2A arthrogryposis, distal, type 3 camptodactyly, cleft palate, and clubfoot Gordon syndrome https://rarediseases.info.nih.gov/diseases/2553/gordon-syndrome MONDO:0007253 cancer, familial, with in vitro RADIORESISTANCE cancer, familial, with in vitro Radioresistance MONDO:0007254 A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males. breast tumor mammary tumor breast cancer cancer of breast malignant breast neoplasm malignant breast tumor malignant neoplasm of breast malignant neoplasm of the breast malignant tumor of breast malignant tumor of the breast mammary cancer primary breast cancer mammary neoplasm breast cancer MONDO:0007256 A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation. https://github.com/monarch-initiative/mondo/issues/4521 HCC cancer, hepatocellular carcinoma of liver carcinoma of liver cells carcinoma of the liver cells carcinoma, hepatocellular, malignant hepatoblastoma, somatic hepatocellular adenocarcinoma hepatocellular cancer hepatocellular cancer, somatic hepatocellular carcinoma hepatocellular carcinoma, childhood type, somatic hepatocellular carcinoma, somatic hepatoma liver cell cancer (hepatocellular carcinoma) liver cell carcinoma primary carcinoma of liver cells primary carcinoma of the liver cells adult hepatoma adult primary hepatocellular carcinoma liver carcinoma hepatoblastoma hepatoblastoma caused by somatic mutation liver and intrahepatic bile duct carcinoma liver cancer hepatocellular carcinoma MONDO:0007257 https://github.com/monarch-initiative/mondo/issues/4521 CANDF1 candidiasis, familial, 1 candidiasis, familial, 1, autosomal dominant Cmct candidiasis, familial chronic mucocutaneous, autosomal dominant, with or without thyroid disease candidiasis, familial, 1 MONDO:0007258 canine teeth, absence of upper permanent canine teeth, absence of upper permanent MONDO:0007259 Craniofaciofrontodigital is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies). Cantu craniofaciofrontodigital syndrome craniofaciofrontodigital syndrome craniofaciofrontodigital syndrome MONDO:0007260 Car factor deficiency Car factor deficiency MONDO:0007261 Carabelli anomaly of maxillary molar teeth Carabelli anomaly of maxillary molar teeth MONDO:0007263 Any variation from the normal rate or rhythm (which may include the origin of the impulse and/or its subsequent propagation) in the heart. arrhythmia cardiac rhythm disease MONDO:0007265 Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the BRAF gene. https://github.com/monarch-initiative/mondo/issues/4521 cardiofaciocutaneous syndrome BRAF cardiofaciocutaneous syndrome cardiofaciocutaneous syndrome 1 cardiofaciocutaneous syndrome caused by mutation in BRAF cardiofaciocutaneous syndrome type 1 CFC syndrome CFC1 Cfcs cardiofaciocutaneous syndrome 1 MONDO:0007266 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene. https://github.com/monarch-initiative/mondo/issues/4521 CMH2 TNNT2 hypertrophic cardiomyopathy cardiomyopathy familial hypertrophic 2 cardiomyopathy, familial hypertrophic, type 2 cardiomyopathy, hypertrophic, 2 familial hypertrophic cardiomyopathy type 2 hypertrophic cardiomyopathy 2 hypertrophic cardiomyopathy caused by mutation in TNNT2 hypertrophic cardiomyopathy type 2 cardiomyopathy, familial hypertrophic, 2 hypertrophic cardiomyopathy 2 MONDO:0007267 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene. https://github.com/monarch-initiative/mondo/issues/4521 CMH3 TPM1 hypertrophic cardiomyopathy cardiomyopathy familial hypertrophic 3 cardiomyopathy, familial hypertrophic, type 3 cardiomyopathy, hypertrophic, 3 hypertrophic cardiomyopathy 3 hypertrophic cardiomyopathy caused by mutation in TPM1 hypertrophic cardiomyopathy type 3 cardiomyopathy, familial hypertrophic, 3 hypertrophic cardiomyopathy 3 MONDO:0007268 An autosomal dominant condition caused by mutation(s) in the MYBPC3 gene, encoding MYBPC3 protein. It is characterized by severe neonatal hypertrophic cardiomyopathy. https://github.com/monarch-initiative/mondo/issues/4521 CMH4 MYBPC3 hypertrophic cardiomyopathy cardiomyopathy, familial hypertrophic, 4 cardiomyopathy, familial hypertrophic, type 4 cardiomyopathy, hypertrophic, 4 familial hypertrophic cardiomyopathy type 4 hypertrophic cardiomyopathy 4 hypertrophic cardiomyopathy caused by mutation in MYBPC3 hypertrophic cardiomyopathy type 4 cardiomyopathy, familial hypertrophic, 4, susceptibility to hypertrophic cardiomyopathy 4 MONDO:0007269 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase. CDCD1 LMNA familial isolated dilated cardiomyopathy cardiomyopathy dilated with conduction defect type 1 cardiomyopathy, dilated, type 1A dilated cardiomyopathy 1A dilated cardiomyopathy type 1A dilated cardiomyopathy with conduction defect 1 familial dilated cardiomyopathy with conduction defect due to LMNA mutation familial isolated dilated cardiomyopathy caused by mutation in LMNA cardiomyopathy, congestive cardiomyopathy, dilated, 1A cardiomyopathy, dilated, with conduction defect 1 cardiomyopathy, familial idiopathic cardiomyopathy, idiopathic dilated dilated cardiomyopathy 1A https://rarediseases.info.nih.gov/diseases/1104/cardiomyopathy-dilated-with-conduction-defect-type-1 MONDO:0007270 Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene. TNNI3 familial isolated restrictive cardiomyopathy cardiomyopathy, familial restrictive, 1 cardiomyopathy, familial restrictive, type 1 familial isolated restrictive cardiomyopathy caused by mutation in TNNI3 RCM1 Rcm cardiomyopathy, familial restrictive, 1 MONDO:0007271 Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission. collagenoma, familial cutaneous familial cutaneous collagenoma https://rarediseases.info.nih.gov/diseases/9799/familial-cutaneous-collagenoma MONDO:0007272 Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date. Carotenoids, plasma level of, quantitative trait locus 1 HCVAD hypercarotenemia and vitamin A deficiency, autosomal dominant hereditary hypercarotenemia and vitamin A deficiency MONDO:0007273 Any paraganglioma in which the cause of the disease is a mutation in the SDHB gene. SDHB paraganglioma paraganglioma caused by mutation in SDHB paragangliomas 4 paragangliomas type 4 PGL4 SDHB-related hereditary paraganglioma-pheochromocytoma syndrome carotid body tumors and multiple extraadrenal Pheochromocytomas paraganglioma, familial malignant paragangliomas, hereditary extraadrenal pheochromocytoma, extraadrenal and cervical paraganglioma pheochromocytoma, extraadrenal, and cervical paraganglioma pheochromocytoma, familial extraadrenal paragangliomas 4 https://rarediseases.info.nih.gov/diseases/10546/paragangliomas-4 MONDO:0007274 carpal displacement carpal bossing carpal displacement MONDO:0007275 Entrapment of the median nerve in the wrist that is characterized by numbness, tingling and painful movement. CTS - carpal tunnel syndrome carpal tunnel median neuropathy carpal tunnel syndrome median nerve entrapment CTS amyotrophy, thenar, of carpal origin carpal tunnel syndrome MONDO:0007276 Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal. CES cat-eye syndrome (Type I) CAT eye syndrome Inv dup(22)(q11) Schmid-Fraccaro syndrome chromosome 22 partial tetrasomy cat-eye syndrome https://rarediseases.info.nih.gov/diseases/26/cat-eye-syndrome MONDO:0007277 Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait. Wellesley-Carman-French syndrome Wellesley Carmen French syndrome cataract, aberrant oral frenula, and growth retardation cataracts, aberrant oral frenula, and growth retardation cataract-aberrant oral frenula-growth delay syndrome MONDO:0007278 A cataract that has material basis in mutation in the region 14q22-q23. CTRCT32 CTAA1 CTPP5 anterior polar cataract 1 posterior polar cataract 5 cataract 32, multiple types cataract, anterior polar cataract, anterior polar, 1 cataract, posterior polar, 5 Links to OMIM series but not listed. cataract 32 multiple types MONDO:0007279 A cataract that has material basis in variation in the region 17q24. CTRCT7 cataract 7 cataract type 7 CCA1 cerulean type cataract 7 congenital cerulean type cataract 1 cataract 7, cerulean type cataract, congenital, cerulean type, 1 cataract 7 MONDO:0007280 A cataract that has material basis in variation in the region 1pter-p36.13. CTRCT8 cataract, congenital, Volkmann type cataract 8, multiple types cataract congenital Volkmann type cataract 8 multiple types MONDO:0007281 Any cataract (disease) in which the cause of the disease is a mutation in the CRYGD gene. CRYGD cataract (disease) CTRCT4 cataract (disease) caused by mutation in CRYGD cataract 4 multiple types with or without microcornea CCA3 congenital cataract cerulean type 3 cataract 4, multiple types cataract 4, multiple types, with or without microcornea cataract, Nonnuclear polymorphic congenital cataract, congenital, cerulean type, 3 cataract, crystalline aculeiform cataract, punctate, progressive juvenile-onset cataract 4 multiple types MONDO:0007282 A cataract that has material basis in variation in the region 2pter-p24. cataract 29 cataract 29 coralliform cataract type 29 CTRCT29 cataract 29, coralliform cataract 29 MONDO:0007283 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA2 gene. A cataract that has_material_basis_in heterozygous mutation in the CRYBA2 gene on chromosome 2q35. CRYBA2 early-onset non-syndromic cataract CTRCT42 cataract 42 cataract type 42 early-onset non-syndromic cataract caused by mutation in CRYBA2 Not in the OMIM series. cataract 42 MONDO:0007284 Any cataract (disease) in which the cause of the disease is a mutation in the CRYGS gene. CRYGS cataract (disease) CTRCT20 cataract (disease) caused by mutation in CRYGS cataract 20, multiple types cataract 20 multiple types MONDO:0007285 Any cataract (disease) in which the cause of the disease is a mutation in the GJA8 gene. CTRCT1 Duffy linked cataract GJA8 cataract (disease) cataract (disease) caused by mutation in GJA8 cataract 1, multiple types, with or without microcornea CAE1 CZP1 zonular pulverulent cataract 1 cataract 1, multiple types cataract, Duffy-linked cataract, zonular pulverulent, 1 cataract 1 multiple types MONDO:0007286 A cataract that has material basis in heterozygous mutation in the VIM gene on chromosome 10p13. CTRCT30 cataract 30 cataract 30 pulverulent cataract Coppock-like cataract type 30 cataract 30, multiple types cataract 30, pulverulent cataract 30 MONDO:0007287 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the WFS1 gene. CTRCT41 WFS1 early-onset non-syndromic cataract cataract 41 cataract type 41 congenital nuclear type cataract 41 early-onset non-syndromic cataract caused by mutation in WFS1 cataract 41, congenital nuclear type cataract 41 MONDO:0007288 Any cataract (disease) in which the cause of the disease is a mutation in the EPHA2 gene. CTRCT6 EPHA2 cataract (disease) cataract (disease) caused by mutation in EPHA2 ARCC2 CTPP1 age related cortical cataract 2 posterior polar cataract 1 CTPA CTPP Posterior polar cataract, 1 cataract 6, multiple types cataract, age-related cortical, 2 cataract, posterior polar, 1 cataract 6 multiple types MONDO:0007289 A cataract that has material basis in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24. CTRCT13 cataract 13 with adult I phenotype cataract 13 with ADULT I phenotype Not in the OMIM series. cataract 13 with adult I phenotype MONDO:0007290 Any cataract (disease) in which the cause of the disease is a mutation in the HSF4 gene. CTRCT5 HSF4 cataract (disease) cataract (disease) caused by mutation in HSF4 cataract 5, multiple types cataract, Marner type cataract, lamellar cataract 5 multiple types MONDO:0007293 Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD characterized by life-threatening, recurrent bacterial infections. https://github.com/monarch-initiative/mondo/issues/4521 leukocyte adhesion deficiency ITGB2 leukocyte adhesion deficiency LAD1 LFA-I deficiency LFA1 immunodeficiency lad-I lad-type I leukocyte adhesion deficiency 1 leukocyte adhesion deficiency caused by mutation in ITGB2 leukocyte adhesion deficiency type 1 leukocyte adhesion deficiency type I lymphocyte function-associated antigen 1 immunodeficiency LFA 1 immunodeficiency Lad1 Lfa1 immunodeficiency lad lad 1 leukocyte adhesion deficiency, type 1 leukocyte adhesion deficiency, type I leukocyte adhesion deficiency 1 MONDO:0007294 An autosomal dominant congenital disorder affecting the skeletal muscles. Microscopically, it is characterized by disorganized areas, which are called cores, seen usually in the center of the muscle fibers. Clinically it presents as mild to severe muscle weakness. It may be associated with skeletal abnormalities including scoliosis, joint deformities, and hip dislocation. central core disease CCD Cco Shy-Magee syndrome central CORE disease of muscle minicore myopathy, moderate, with hand involvement multicore myopathy, moderate, with hand involvement multiminicore disease, moderate, with hand involvement muscle core disease muscular central core disease myopathy, central core myopathy, central fibrillar neuromuscular disease, congenital, with uniform type 1 Fiber central core myopathy MONDO:0007295 A childhood-onset epilepsy syndrom that is characterized by onset of seizures between 3 and 14 years (peak 8-9 years) that usually resolve by age 13 years, but can occasionally occur up to age 18 years of age. Both sexes are affected. Antecedent, birth and neonatal history is normal. A history of febrile seizure (in 5-15%) may be seen. A history of Panayiotopoulos syndrome may be present in a very small number of cases. Neurological exam and head size is normal. Development and cognition prior to onset of seizures is normal. During the course of the active epilepsy, behavioral and neuropsychological deficits may be found, particularly in language and executive functioning. These deficits improve when seizures remit. https://github.com/monarch-initiative/mondo/issues/2545 https://github.com/monarch-initiative/mondo/issues/4521 BCECTS BECRS BECTS BRE Rolandic epilepsy benign Rolandic epilepsy benign Rolandic epilepsy (BRE) benign Rolandic epilepsy of childhood (BREC) benign childhood epilepsy with centrotemporal spike benign childhood epilepsy with centrotemporal spikes benign epilepsy of childhood with centrotemporal spikes benign epilepsy with centrotemporal spikes benign familial epilepsy of childhood with rolandic spikes centralopathic epilepsy centrotemporal epilepsy centrotemporal epilepsy, isolated cases sylvan seizures temporal-central focal epilepsy benign epilepsy of childhood with centrotemporal spikes (BECCT) benign epilepsy with centro-temporal spikes (BECTS) Childhood epilepsy with centrotemporal spikes, atypical childhood epilepsy with centrotemporal spikes, epileptic encephalopathy with continuous spike-and-wave during sleep and Landau Kleffner syndrome are syndromes that have in common certain EEG features, with variable severity of focal seizures and neurocognitive impairment. They may be considered as a spectrum, an individual child may transition from one of these syndromes to another over time. childhood epilepsy with centrotemporal spikes https://epilepsydiagnosis.org/syndrome/ects-overview.html https://rarediseases.info.nih.gov/diseases/10287/benign-rolandic-epilepsy-bre MONDO:0007296 Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the late-onset of cerebral ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties. SCA31 spinocerebellar ataxia type 31 spinocerebellar ataxia 16q22-linked spinocerebellar ataxia 31 spinocerebellar ataxia, 16Q22-linked spinocerebellar ataxia type 31 MONDO:0007297 A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2. FDD HOOE Heredopathia Ophthalmootoencephalica cerebellar ataxia, cataract, deafness, and dementia Or psychosis cerebral amyloid angiopathy, ITM2B-related, type 2 familial Danish dementia familial dementia, Danish type ITM2B-related cerebral amyloid angiopathy 2 cerebellar ataxia, cataract, deafness, and dementia or psychosis cerebral amyloid angiopathy, ITM2B-RELATED, 2 dementia, familial Danish ADan amyloidosis MONDO:0007298 Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability. https://github.com/monarch-initiative/mondo/issues/4521 SCA29 congenital nonprogressive spinocerebellar ataxia spinocerebellar ataxia 29, congenital nonprogressive spinocerebellar ataxia type 29 ACV aplasia of cerebellar vermis cerebellar ataxia early-onset nonprogressive cerebellar ataxia, congenital nonprogressive, autosomal dominant cerebellar vermis aplasia spinocerebellar ataxia 29 spinocerebellar ataxia type 29 MONDO:0007299 Any Sotos syndrome in which the cause of the disease is a mutation in the NSD1 gene. https://github.com/monarch-initiative/mondo/issues/4948 NSD1 Sotos syndrome Sotos syndrome 1 Sotos syndrome caused by mutation in NSD1 Sotos syndrome type 1 SOTOS1 Sotos syndrome cerebral gigantism chromosome 5Q35 deletion syndrome Sotos syndrome 1 MONDO:0007300 A sarcoma involving a telencephalon. cerebral sarcoma sarcoma of telencephalon telencephalon sarcoma cerebral sarcoma https://rarediseases.info.nih.gov/diseases/10073/cerebral-sarcoma MONDO:0007301 Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis. https://github.com/monarch-initiative/mondo/issues/4948 cerebrocostomandibular syndrome CCM syndrome CCMS CEREBROCOSTOMANDIBULAR syndrome cerebro-costo-mandibular syndrome rib Gap defects with micrognathia cerebrocostomandibular syndrome MONDO:0007302 cervical hypertrichosis with underlying kyphoscoliosis hypertrichosis, posterior cervical, with underlying kyphoscoliosis cervical hypertrichosis with underlying kyphoscoliosis MONDO:0007303 A rib that is attached to a cervical vertebra or enlarged transverse processes. https://github.com/monarch-initiative/monarch-disease-ontology/issues/405 cervical rib cervical rib syndrome About 1 in 200 people are born with an extra rib called a cervical rib. About 1 in 10 people who have a cervical rib develop thoracic outlet syndrome. cervical rib disease MONDO:0007304 cervical vertebral Bridge cervical vertebral Bridge MONDO:0007305 cervical vertebral dysplasia (disease) cervical vertebral dysplasia cervical vertebral dysplasia (disease) cervical vertebral dysplasia MONDO:0007306 Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF6 gene. https://github.com/monarch-initiative/mondo/issues/4948 GDF6 isolated Klippel-Feil syndrome Klippel-Feil syndrome 1, autosomal dominant isolated Klippel-Feil syndrome caused by mutation in GDF6 KFS1 Kfs Klippel-FEIL syndrome 1, autosomal dominant cervical vertebral fusion, autosomal dominant Klippel-Feil syndrome 1, autosomal dominant MONDO:0007307 A sensorineural peripheral polyneuropathy affecting approximately 1 in 2,500 individuals, and is the most common inherited disorder of the peripheral nervous system. Autosomal dominant, autosomal recessive, and X-linked forms have been recognized. https://github.com/monarch-initiative/mondo/issues/4521 CMT1B Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy Charcot-Marie-Tooth disease type 1 caused by mutation in MPZ Charcot-Marie-Tooth disease, type 1B Charcot-Marie-Tooth neuropathy type 1B HMSN IB HMSN1B MPZ Charcot-Marie-Tooth disease type 1 autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B hereditary motor and sensory neuropathy IB CMT 1B Charcot Marie Tooth disease type 1B Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1B Charcot-Marie-Tooth disease, demyelinating, type 1B Charcot-Marie-Tooth disease, slow nerve conduction type, linked to Duffy Charcot-Marie-Tooth neuropathy, type 1B HMSN 1B HMSN1 hereditary motor and sensory neuropathy 1 hereditary motor and sensory neuropathy 1B Charcot-Marie-Tooth disease type 1B MONDO:0007308 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor. https://github.com/monarch-initiative/mondo/issues/4521 CMT2A CMT2A1 Charcot-Marie-Tooth disease neuronal type 2A1 Charcot-Marie-Tooth disease type 2 caused by mutation in KIF1B Charcot-Marie-Tooth disease type 2A Charcot-Marie-Tooth disease type 2A1 Charcot-Marie-Tooth disease, type 2A1 Charcot-Marie-Tooth neuropathy type 2A1 HMSN IIA1 HMSN2A1 KIF1B Charcot-Marie-Tooth disease type 2 autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1 hereditary motor and sensory neuropathy IIA1 CMT 2A Charcot Marie Tooth disease type 2A Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A1 Charcot-Marie-Tooth disease, axonal, type 2A Charcot-Marie-Tooth disease, axonal, type 2A1 Charcot-Marie-Tooth disease, neuronal, type 2A Charcot-Marie-Tooth disease, neuronal, type 2A1 Charcot-Marie-Tooth neuropathy, type 2A1 HMSN IIA HMSN IIa1 autosomal dominant Charcot-Marie-Tooth disease type 2A1 hereditary motor and sensory neuropathy 2 A hereditary motor and sensory neuropathy IIa1 Charcot-Marie-Tooth disease type 2A1 https://rarediseases.info.nih.gov/diseases/1248/charcot-marie-tooth-disease-type-2a MONDO:0007309 Charcot-Marie-Tooth disease type 1A (CMT1A) is a type ofinherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused byhaving an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy ; occupational therapy ; braces and other orthopedic devices; orthopedic surgery;and pain medications. https://github.com/monarch-initiative/mondo/issues/4521 CMT1A Charcot-Marie-Tooth disease type 1A Charcot-Marie-Tooth disease, type 1A Charcot-Marie-Tooth neuropathy type 1A Charcot-Marie-Tooth syndrome type 1A HMSN1A autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A hereditary motor and sensory neuropathy 1A microduplication 17p12 CMT 1A Charcot Marie Tooth disease type 1A Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1A Charcot-Marie-Tooth disease, demyelinating, type 1A Charcot-Marie-Tooth neuropathy, type 1A HMSN 1A Charcot-Marie-Tooth disease type 1A https://rarediseases.info.nih.gov/diseases/1245/charcot-marie-tooth-disease-type-1a MONDO:0007310 Charcot-Marie-Tooth disease, Guadalajara neuronal type Editor note: consider relationship to type 2 Charcot-Marie-Tooth disease, Guadalajara neuronal type MONDO:0007311 A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients. https://github.com/monarch-initiative/mondo/issues/4521 CMT1E Charcot-Marie-Tooth disease and deafness Charcot-Marie-Tooth disease demyelinating type 1E Charcot-Marie-Tooth disease, type 1E Charcot-Marie-Tooth disease-deafness Charcot-Marie-Tooth disease-deafness syndrome autosomal dominant Charcot-Marie-Tooth neuropathy and deafness CMT 1E Charcot Marie Tooth disease type 1E Charcot-Marie-Tooth disease, demyelinating, type 1E Charcot-Marie-Tooth neuropathy and deafness, autosomal dominant Charcot-Marie-Tooth disease type 1E MONDO:0007312 Charcot-Marie-Tooth disease with ptosis and parkinsonism Charcot-Marie-Tooth disease with ptosis and parkinsonism MONDO:0007313 Cheilitis glandularis (CG) is an uncommon chronic inflammatory disease of unknown origin characterized by macrocheilia and secretions of thick saliva from swollen labial minor salivary glands. cheilitis glandularis cheilitis glandularis https://rarediseases.info.nih.gov/diseases/412/cheilitis-glandularis MONDO:0007314 chemodectoma, intraabdominal, with cutaneous angiolipomas abdominal chemodectomas with cutaneous angiolipomas chemodectoma, intraabdominal, with cutaneous angiolipomas MONDO:0007315 Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases. https://github.com/monarch-initiative/mondo/issues/4948 CRBM cherubism familial fibrous dysplasia of the jaws familial multilocular cystic disease of the jaws Crbm cherubism https://rarediseases.info.nih.gov/diseases/6036/cherubism MONDO:0007316 Arnold-Chiari malformation type I is a central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic. Arnold-Chiari malformation type 1 Arnold-Chiari malformation type I Chiari malformation type 1 Chiari malformation type I Chiari malformation type 1 with syringomyelia Cm1 Cm1 with syringomyelia Chiari malformation type I MONDO:0007318 Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys. Alagille syndrome Alagille-Watson syndrome Arteriohepatic dysplasia syndromic bile duct paucity Cardiovertebral syndrome Hepatofacioneurocardiovertebral syndrome Watson Alagille syndrome Watson-Miller syndrome hepatic ductular hypoplasia paucity of interlobular bile ducts Alagille syndrome MONDO:0007319 A chronic inherited arthropathy characterized by chondrocalcinosis (CC; i.e. cartilage calcification), often associated with recurrent acute calcium pyrophosphate (CPP) crystal arthritis and polyarticular osteoarthritis (OA). https://github.com/monarch-initiative/mondo/issues/4948 calcium pyrophosphate dihydrate crystal deposition disease chondrocalcinosis 2 chondrocalcinosis type 2 familial CC familial CPPD familial articular chondrocalcinosis familial calcium pyrophosphate deposition hereditary CC hereditary articular chondrocalcinosis hereditary calcium pyrophosphate deposition CCAL2 CPPDD Pseudogout, familial calcium gout calcium gout, familial calcium pyrophosphate arthropathy calcium pyrophosphate arthropathy, familial calcium pyrophosphate dihydrate deposition disease chondrocalcinosis familial articular chondrocalcinosis, familial articular familial calcium pyrophosphate dihydrate deposition disease chondrocalcinosis 2 MONDO:0007320 chondrocalcinosis due to apatite crystal deposition familial apatite disease chondrocalcinosis due to apatite crystal deposition https://rarediseases.info.nih.gov/diseases/10139/chondrocalcinosis-due-to-apatite-crystal-deposition MONDO:0007321 Autosomal dominant form of chondrodysplasia punctata. chondrodysplasia punctata Sheffield type chondrodysplasia punctata, Sheffield type chondrodysplasia punctata, autosomal dominant chondrodysplasia punctata due to vitamin K deficiency chondrodysplasia punctata due to warfarin teratogenicity autosomal dominant chondrodysplasia punctata https://rarediseases.info.nih.gov/diseases/1298/chondrodysplasia-punctata-sheffield-type MONDO:0007322 https://github.com/monarch-initiative/mondo/issues/4948 chondrodysplasia punctata, Mt type chondrodysplasia punctata, tibia-metacarpal type chondrodysplasia punctata, tibial-metacarpal type MONDO:0007323 Chondronectin Chondronectin MONDO:0007325 choreoathetosis, familial inverted infantile choreoathetosis of Fisher choreoathetosis, familial inverted MONDO:0007327 chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase hyperlipoproteinemia, type 1C chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase MONDO:0007328 choroidal osteoma, bilateral choroidal osteoma, bilateral MONDO:0007329 Cirrhosis in which no causative agent can be identified. cirrhosis, familial cryptogenic cirrhosis hereditary cirrhosis of liver Indian childhood cirrhosis Sen syndrome cirrhosis, Noncryptogenic, susceptibility to cirrhosis, cryptogenic cirrhosis, familial, with pulmonary hypertension copper toxicosis, idiopathic copper-overload cirrhosis endemic Tyrolean infantile cirrhosis cirrhosis, familial MONDO:0007330 Congenital pseudoarthrosis of the clavicle is a rare benign condition, characterized by a painless mass or swelling over the clavicle. https://github.com/monarch-initiative/mondo/issues/4069 congenital pseudarthrosis of the clavicle clavicle, pseudarthrosis of, congenital congenital pseudoarthrosis of the clavicle congenital pseudoarthrosis of clavicle MONDO:0007332 SHFLD1 split-hand/foot malformation with long bone deficiency 1 SHFLD aplasia of tibia with ectrodactyly cleft hand absent tibia cleft hand and absent tibia ectrodactyly with aplasia of long bones split-hand-foot malformation with long bone deficiency split-hand/foot malformation with long bone deficiency tibial aplasia with split-hand-split-foot deformity tibial aplasia with split-hand/split-foot deformity split-hand/foot malformation with long bone deficiency 1 MONDO:0007333 Any van der Woude syndrome in which the cause of the disease is a mutation in the IRF6 gene. IRF6 van der Woude syndrome Van Der Woude syndrome type 1 van der Woude syndrome 1 van der Woude syndrome caused by mutation in IRF6 VAN DER Woude syndrome 1 VWS1 Vdws cleft lip and/or palate with mucous cysts of Lower lip lip-pit syndrome van der Woude syndrome 1 MONDO:0007334 Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. https://github.com/monarch-initiative/mondo/issues/4521 facio-genito-popliteal syndrome popliteal pterygium syndrome 1 popliteal pterygium syndrome, autosomal dominant popliteal web syndrome PPS cleft Lip/palate, paramedian mucous cysts of the Lower Lip, popliteal pterygium, digital and genital anomalies cleft lip/palate paramedian mucous cysts of the lower lip popliteal pterygium digital and genital anomalies faciogenitopopliteal syndrome popliteal pterygium syndrome Editor note: check logical definition autosomal dominant popliteal pterygium syndrome MONDO:0007335 Cleft lip with or without cleft palate mapped to chromosome 6p24. https://github.com/monarch-initiative/mondo/issues/4521 OFC1 orofacial cleft 1 orofacial cleft-1 cleft Lip/palate, nonsyndromic cleft lip with or without cleft palate, nonsyndromic, 1 orofacial cleft, nonsyndromic orofacial cleft 1 MONDO:0007336 A cleft palate that is not part of a larger syndrome. isolated cleft palate nonsyndromic cleft palate CPI cleft palate cleft palate, isolated dominant cleft palate isolated cleft palate https://rarediseases.info.nih.gov/diseases/1896/dominant-cleft-palate MONDO:0007337 Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner. CPLS syndrome cleft palate-lateral synechia syndrome Cpls syndrome cleft palate lateral synechia syndrome syngnathia cleft palate-lateral synechia syndrome https://rarediseases.info.nih.gov/diseases/1391/cleft-palate-lateral-synechia-syndrome MONDO:0007338 Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate. cleft soft palate cleft velum cleft velum palatinum soft cleft palate cleft soft palate MONDO:0007339 An ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth. BCD syndrome Elsching syndrome blepharo-cheilo-odontic syndrome blepharocheilodontic syndrome clefting-ectropion-conical teeth syndrome ectropion inferior-cleft lip and or palate syndrome ectropion inferior-cleft lip and/or palate syndrome lagophthalmia-cleft lip and palate syndrome BCDS BCDS1 Elschnig syndrome blepharo-cheilo-dontic syndrome blepharocheilodontic syndrome 1 clefting, ectropion, and conical teeth ectropion inferior cleft lip and or palate ectropion, inferior, with cleft lip and/or palate lagophthalmia with bilateral cleft lip and palate blepharocheilodontic syndrome https://rarediseases.info.nih.gov/diseases/2071/ectropion-inferior-cleft-lip-and-or-palate MONDO:0007340 Cleidocranial dysplasia (CCD) is a condition that primarily affects the development of the bones and teeth. Characteristic features include underdeveloped or absent collarbones (clavicles); dental abnormalities; and delayed closing of the spaces between the skull bones (fontanels). Other features may include decreased bone density (osteopenia), osteoporosis, hearing loss, bone abnormalities of the hands, and recurrent sinus and ear infections. CCD is caused by changes (mutations) in the RUNX2 gene and inheritance is autosomal dominant. It may be inherited from an affected parent or occur due to a new mutation in the RUNX2 gene. Management may include dental procedures, treatment of sinus and ear infections, use of helmets for high-risk activities, and/or surgery for skeletal problems. Marie-Sainton disease cleidocranial dysostosis cleidocranial dysplasia CCD CLCD cleidocranial dysplasia, forme fruste, dental anomalies only cleidocranial dysplasia, forme fruste, with brachydactyly dysplasia cleidocranial cleidocranial dysplasia MONDO:0007341 Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988. Wallis-Zieff-Goldblatt syndrome cleidorhizomelic syndrome rhizomelic shortness with clavicular defect Wallis Zieff Goldblatt syndrome brachydactyly, enlarged diaphysis, rhizomelic micromelia, short stature and abnormal clavicle cleido rhizomelic syndrome cleidorhizomelic syndrome https://rarediseases.info.nih.gov/diseases/5532/cleidorhizomelic-syndrome MONDO:0007342 The most common congenital deformation of the foot, occurring in 1 of 1,000 live births. The most common form is talipes equinovarus, where the deformed foot is turned downward and inward sharply. https://github.com/monarch-initiative/mondo/issues/4948 club foot clubbed foot congenital clubfoot congenital equinovarus congenital talipes equinovarus equinovarus deformity of foot equinovarus deformity of foot (finding) talipes talipes equinovarus CCF clubfoot, congenital, with or without deficiency of long bones and/or mirror-IMAGE polydactyly clubfoot MONDO:0007343 Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality. isolated congenital acropachy isolated congenital nail clubbing acropachy, hereditary clubbing of digits digital clubbing, isolated congenital isolated congenital digital clubbing MONDO:0007344 An instance of cluster headache syndrome that is caused by an inherited modification of the individual's genome. cluster headache, familial hereditary cluster headache syndrome cluster headache, familial MONDO:0007345 Congenital narrowing of a segment of the aorta. Signs and symptoms include hypertension, muscle weakness, shortness of breath, headaches and leg cramps. aortic coarctation coarctation of aorta coarctation of the aorta aorta coarctation MONDO:0007346 Cochleosaccular degeneration-cataract syndrome is characterised by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant. COCHLEOSACCULAR degeneration with progressive cataracts Cochleosaccular Degeneration Cochleosaccular Degeneration of the inner Ear with progressive cataracts Cochleosaccular degeneration of the inner ear and progressive cataracts cochleosaccular degeneration-cataract syndrome https://rarediseases.info.nih.gov/diseases/9418/cochleosaccular-degeneration-of-the-inner-ear-and-progressive-cataracts MONDO:0007349 Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRP3 gene. https://github.com/monarch-initiative/mondo/issues/4521 NLRP3 familial cold autoinflammatory syndrome familial cold autoinflammatory syndrome 1 familial cold autoinflammatory syndrome caused by mutation in NLRP3 familial cold autoinflammatory syndrome type 1 familial cold inflammatory syndrome 1 Cryopyrin-associated periodic syndrome 1 FCAS1 Fcas cold hypersensitivity cold urticaria, familial cold-induced autoinflammatory syndrome, familial familial cold autoinflammatory syndrome 1 MONDO:0007350 https://github.com/monarch-initiative/mondo/issues/4521 coloboma, ocular coloboma, ocular, autosomal dominant coloboma of iris, choroid, and retina coloboma, Uveoretinal coloboma, ocular, autosomal dominant MONDO:0007351 Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders. coloboma of macula agenesis of macula hereditary macular coloboma (subtype) macular coloboma coloboma of macula MONDO:0007352 Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia. CAKUT with or without ocular abnormalities Papillo-renal syndrome coloboma of optic nerve with renal disease congenital anomalies of the kidney and urinary tract with or without ocular abnormalities optic coloboma, vesicoureteral reflux and renal anomalies papillo-renal syndrome, optic nerve coloboma with renal disease papillorenal syndrome renal-coloboma syndrome with macular abnormalities PAPILLORENAL syndrome PAPRS optic coloboma, vesicoureteral reflux, and renal anomalies optic nerve coloboma with renal disease renal-coloboma syndrome renal coloboma syndrome https://rarediseases.info.nih.gov/diseases/4106/renal-coloboma-syndrome MONDO:0007353 Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner. Sorsby syndrome apical dystrophy coloboma of macula with type B brachydactyly coloboma of macula-brachydactyly type B syndrome MONDO:0007354 https://github.com/monarch-initiative/mondo/issues/4364 coloboma of optic nerve (disease) coloboma of optic nerve (disease) coloboma of optic papilla optic nerve coloboma congenital coloboma of the optic nerve morning glory Disc anomaly optic nerve head pits, bilateral congenital coloboma of optic nerve MONDO:0007355 Uveal coloboma-cleft lip and palate-intellectual disability is characterised by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant. https://github.com/monarch-initiative/mondo/issues/5588 uveal coloboma-cleft lip and palate-intellectual disability COB1 coloboma, cleft lip/palate and intellectual disability syndrome coloboma, cleft lip/palate and mental retardation syndrome coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or intellectual disability coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation coloboma-microphthalmos syndrome coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate uveal coloboma-cleft lip/palate-intellectual disability syndrome uveal coloboma-cleft lip/palate-mental retardation syndrome uveal coloboma-cleft lip and palate-intellectual disability MONDO:0007356 Any Lynch syndrome in which the cause of the disease is a mutation in the MSH2 gene. HNPCC1 Hereditary non-polyposis colon cancer type 1 Lynch 1 syndrome Lynch syndrome 1 Lynch syndrome type 1 familial non-polyposis colon cancer type 1 hereditary nonpolyposis colorectal cancer type 1 COCA1 LYNCH syndrome I Lynch syndrome 2 colon cancer, familial nonpolyposis, type 1 colorectal cancer, hereditary nonpolyposis, type 1 Lynch syndrome 1 MONDO:0007357 colonic varices without portal hypertension colonic varices without portal hypertension MONDO:0007358 comedones, familial Dyskeratotic comedones, familial Dyskeratotic MONDO:0007359 commissural lip pits commissural lip pits MONDO:0007360 branchiootic syndrome 2 branchiootic syndrome type 2 bo syndrome 2 branchiootic syndrome 2 MONDO:0007361 complement component 4, partial deficiency OF C1 inhibitor deficiency MONDO:0007362 Any cone-rod dystrophy in which the cause of the disease is a mutation in the CRX gene. https://github.com/monarch-initiative/mondo/issues/4521 CORD2 CRD2 CRX cone-rod dystrophy RCRD2 cone-rod dystrophy 2 cone-rod dystrophy caused by mutation in CRX cone-rod dystrophy type 2 cone-rod retinal dystrophy 2 cone-rod retinal dystrophy-2 retinal cone-rod dystrophy 2 cone-rod dystrophy cone-rod retinal dystrophy retinal cone-rod dystrophy cone-rod dystrophy 2 MONDO:0007363 Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4948 Beals syndrome Beals-Hecht syndrome CCA CCA syndrome distal arthrogryposis type 9 DA9 Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis arachnodactyly, contractural Beals type arthrogryposis, distal, type 9 contractural arachnodactyly, congenital contractures, multiple with arachnodactyly congenital contractural arachnodactyly MONDO:0007364 arthrogryposis, distal, type 2E contractures of fingers and jaw arthrogryposis, distal, type 2E MONDO:0007365 Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ2 gene. https://github.com/monarch-initiative/mondo/issues/4521 KCNQ2 benign neonatal seizures benign neonatal seizures caused by mutation in KCNQ2 myokymia seizures, benign familial neonatal, 1 seizures, benign familial neonatal, type 1 seizures, benign neonatal, 1 BFNS1 epilepsy, benign neonatal, 1, and/or myokymia seizures, benign familial neonatal, 1, and/or myokymia seizures, benign familial neonatal, 1 MONDO:0007366 Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ3 gene. https://github.com/monarch-initiative/mondo/issues/4521 KCNQ3 benign neonatal seizures benign neonatal seizures caused by mutation in KCNQ3 seizures, benign familial neonatal, 2 seizures, benign familial neonatal, type 2 seizures, benign neonatal, 2 BFNS2 convulsions, benign familial neonatal, 2 seizures, benign familial neonatal, 2 MONDO:0007367 FEB1 febrile seizures, familial, 1 convulsions, familial febrile convulsions, familial febrile, 1 febrile seizures, familial, 1 MONDO:0007368 Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1982. copper deficiency, familial benign familial benign hypocupremia familial benign copper deficiency https://rarediseases.info.nih.gov/diseases/1522/copper-deficiency-familial-benign MONDO:0007369 A form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions. coproporphyrinogen oxidase deficiency hereditary coproporphyria hereditary coproporphyria porphyria CPRO deficiency Cpo deficiency Cpox deficiency Cpx deficiency HCP Harderoporphyria coproporphyria coproporphyria hereditary coproporphyria, hereditary porphyria hepatica II porphyria hepatica coproporphyria hereditary coproporphyria https://rarediseases.info.nih.gov/diseases/6619/hereditary-coproporphyria MONDO:0007370 coracoclavicular joint, anomalous coracoclavicular joint, anomalous MONDO:0007371 cornea guttata with anterior polar cataracts cornea guttata with anterior polar cataract familial congenital cornea guttata with anterior polar cataracts (type) cornea guttata with anterior polar cataracts MONDO:0007372 cornea plana 1, autosomal dominant CNA1 cornea plana 1 cornea plana 1, autosomal dominant MONDO:0007373 corneal degeneration, ribbonlike, with deafness band keratopathy with deafness corneal degeneration, ribbonlike, with deafness MONDO:0007374 Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity. https://github.com/monarch-initiative/mondo/issues/4521 SCCD SCD Schnyder corneal dystrophy Schnyder crystalline corneal dystrophy Schnyder crystalline dystrophy sine crystals corneal dystrophy crystalline of Schnyder corneal dystrophy, Schnyder type crystalline stromal dystrophy hereditary crystalline stromal dystrophy of Schnyder corneal dystrophy, Schnyder corneal dystrophy, crystalline, of Schnyder Schnyder corneal dystrophy MONDO:0007375 Cogan corneal dystrophy Cogan microcystic epithelial dystrophy EBMD Map-dot-fingerprint dystrophy anterior basement membrane dystrophy microcystic corneal dystrophy Map-dot-fingerprint dystrophy of cornea corneal dystrophy, Map-Dot-Fingerprint type corneal dystrophy, anterior basement Membrane corneal dystrophy, epithelial basement MEMBRANE corneal dystrophy, microcystic epithelial basement membrane corneal dystrophy microcystic dystrophy of the cornea epithelial basement membrane dystrophy MONDO:0007376 Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity. https://github.com/monarch-initiative/mondo/issues/4521 FCD FranC'ois-Neetens speckled corneal dystrophy Francois-Neetens speckled corneal dystrophy François-Neetens speckled corneal dystrophy corneal fleck dystrophy fleck corneal dystrophy Cfd corneal dystrophy, FLECK corneal dystrophy, Francois-Neetens speckled or flecked fleck corneal dystrophy MONDO:0007377 Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe. GCD1 GCDI classic GCD classic granular corneal dystrophy corneal dystrophy Groenouw type I granular corneal dystrophy type 1 CDGG1 Groenouw type I corneal dystrophy corneal dystrophy granular type corneal dystrophy punctate or nodular corneal dystrophy, Groenouw type 1 corneal dystrophy, Groenouw type I corneal dystrophy, punctate or nodular granular corneal dystrophy, type 1 granular corneal dystrophy type I MONDO:0007378 A posterior polymorphous corneal dystrophy that has material basis in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23. https://github.com/monarch-initiative/mondo/issues/1368 Ched1 Maumenee corneal dystrophy Ppcd1 corneal dystrophy, posterior polymorphous, type 1 corneal endothelial dystrophy 1, autosomal dominant posterior polymorphous corneal dystrophy type 1 PPCD1 corneal dystrophy, POSTERIOR polymorphous, 1 corneal dystrophy, hereditary polymorphous posterior corneal endothelial dystrophy 1, autosomal dominant, formerly posterior polymorphous corneal dystrophy posterior polymorphous corneal dystrophy 1 MONDO:0007379 Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision. MECD Meesmann corneal dystrophy juvenile epithelial of Meesmann corneal dystrophy juvenile hereditary epithelial dystrophy juvenile hereditary epithelial dystrophy of Meesmann stocker-Holt dystrophy Meesman dystrophy Meesmann corneal epithelial dystrophy corneal dystrophy, Meesmann corneal dystrophy, Meesmann epithelial corneal dystrophy, juvenile epithelial of Meesmann corneal dystrophy, juvenile epithelial, of Meesmann Meesmann corneal dystrophy https://rarediseases.info.nih.gov/diseases/9688/meesmann-corneal-dystrophy MONDO:0007380 Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations. Biber-Haab-Dimmer dystrophy LCDI Lcd1 classic lattice corneal dystrophy lattice corneal dystrophy type 1 CDL1 LCD corneal dystrophy, lattice type 1 corneal dystrophy, lattice type I lattice corneal dystrophy, type 1 lattice corneal dystrophy type I MONDO:0007381 Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision. ERED dystrophia Helsinglandica dystrophia Smolandiensis epithelial recurrent erosion dystrophy recurrent hereditary corneal erosions corneal erosions, recurring hereditary epithelial recurrent erosion dystrophy MONDO:0007382 Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature, and intellectual disability. https://github.com/monarch-initiative/mondo/issues/5588 Ramos-Arroyo syndrome corneal anesthesia-deafness-intellectual disability syndrome Ramos Arroyo Clark syndrome congenital corneal anesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and intellectual disability congenital corneal anesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and mental retardation corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and intellectual disability corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation Ramos-Arroyo syndrome MONDO:0007383 Stern-Lubinsky-Durrie syndrome is characterised by corneal epithelial changes (associated with photophobia and burning and watering of the eyes), diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, dental problems, and premature birth. It has been described in seven individuals from three generations of one family. It is transmitted as an autosomal dominant trait. corneo-dermato-osseous syndrome CORNEODERMATOOSSEOUS syndrome Cdo syndrome Stern Lubinsky Durrie syndrome corneal dystrophy epithelial and short stature corneal dystrophy, epithelial, with skin and skeletal changes Stern-Lubinsky-Durrie syndrome MONDO:0007384 Congenital trigeminal anesthesia is a rare neuro-ophtalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum). https://github.com/monarch-initiative/mondo/issues/4069 corneal hypesthesia, familial familial trigeminal anesthesia trigeminal anesthesia, familial congenital trigeminal anesthesia MONDO:0007385 idiopathic SCAD coronary artery dissection, spontaneous idiopathic spontaneous coronary artery dissection MONDO:0007387 Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the NIPBL gene. https://github.com/monarch-initiative/mondo/issues/4948 Cornelia De Lange syndrome type 1 Cornelia de Lange syndrome 1 Cornelia de Lange syndrome caused by mutation in NIPBL NIPBL Cornelia de Lange syndrome Brachmann-De Lange syndrome CDLS1 Cdl Cornelia DE Lange syndrome 1 De Lange syndrome typus Degenerativus Amstelodamensis Cornelia de Lange syndrome 1 MONDO:0007388 Congenital shortness of the costocoracoid ligament is a rare anomaly characterized by fixation of the scapula to the first rib, resulting in a cosmetic deformity with rounding of the shoulders and loss of the anterior clavicular contour. congenital shortness of the costocoracoid ligament costocoracoid ligament congenitally short costocoracoid ligament, congenitally short fixation of the scapula to the first rib by a congenitally short costocoracoid ligament congenitally short costocoracoid ligament https://rarediseases.info.nih.gov/diseases/1551/costocoracoid-ligament-congenitally-short MONDO:0007389 Any spondylocostal dysostosis in which the cause of the disease is a mutation in the TBX6 gene. https://github.com/monarch-initiative/mondo/issues/4948 TBX6 spondylocostal dysostosis spondylocostal dysostosis 5 spondylocostal dysostosis caused by mutation in TBX6 spondylocostal dysostosis type 5 SCDO5 costovertebral segmentation anomalies polydysspondyly scoliosis, congenital, with or without rib anomalies spondylocostal dysplasia spondylothoracic dysostosis May be AD or AR spondylocostal dysostosis 5 MONDO:0007390 coumarin resistance coumarin sensitivity coumarin, poor metabolism of warfarin resistance warfarin sensitivity coumarin resistance MONDO:0007391 Hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between femoral neck and its shaft. It may be congenital often syndromic, acquired, or developmental. coxa vara (disease) coxa vara coxa vara (disease) coxa vara, congenital coxa vara MONDO:0007392 Coxoauricular syndrome is an extremely rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981. coxoauricular syndrome coxoauricular syndrome https://rarediseases.info.nih.gov/diseases/1558/coxoauricular-syndrome MONDO:0007393 Cranioacrofacial syndrome cranioacrofacial syndrome MONDO:0007395 Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome that can be distinguished from the latter by its imaging findings and distinct facial features. CDHS Sommer-Young-Wee-Frye syndrome craniofacial-deafness-hand syndrome craniofacial deafness hand syndrome features of flat facial profile, hypertelorism, hypoplastic nose with slitlike nares, and a sensorineural hearing loss craniofacial-deafness-hand syndrome https://rarediseases.info.nih.gov/diseases/1571/craniofacial-deafness-hand-syndrome MONDO:0007396 Stanescu type dysostosis is a rare form of osteosclerosis. Stanescu osteosclerosis autosomal dominant osteosclerosis, Stanescu type craniofacial dysostosis-diaphyseal hyperplasia syndrome craniofacial dysostosis with diaphyseal hyperplasia dysostosis Stanescu type osteosclerosis, Stanescu type dysostosis, Stanescu type MONDO:0007397 https://github.com/monarch-initiative/mondo/issues/4948 craniometaphyseal dysplasia, autosomal dominant CMD CMDD CMDJ craniometaphyseal dysplasia Jackson type craniometaphyseal dysplasia, Jackson type craniometaphyseal dysplasia, autosomal dominant MONDO:0007398 craniorhiny craniorhiny MONDO:0007399 Any craniosynostosis in which the cause of the disease is a mutation in the TWIST1 gene. https://github.com/monarch-initiative/mondo/issues/2659 TWIST1-related craniosynostosis craniosynostosis 1 craniosynostosis type 1 CRS CRS1 craniostenosis TWIST1-related craniosynostosis MONDO:0007400 Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients. JWS Jackson-Weiss syndrome craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome craniosynostosis, midfacial hypoplasia, and foot abnormalities Jackson-Weiss syndrome https://rarediseases.info.nih.gov/diseases/6796/jackson-weiss-syndrome MONDO:0007401 Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant. Braddock-Jones-Superneau syndrome craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome Braddock Jones Superneau syndrome Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus HDCPH1 hydrocephalus, autosomal dominant sagittal craniosynostosis, Dandy-Walker malformation and hydrocephalus craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome https://rarediseases.info.nih.gov/diseases/1592/dandy-walker-malformation-with-sagittal-craniosynostosis-and-hydrocephalus MONDO:0007402 creatine phosphokinase, elevated serum CPK, elevated serum hyperCKemia, idiopathic creatine phosphokinase, elevated serum MONDO:0007403 Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia. https://github.com/monarch-initiative/mondo/issues/4521 Creutzfeldt-Jakob disease, variant, resistance to hereditary Creutzfeldt Jacob disease inherited CJD CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob disease, Heidenhain variant Creutzfeldt-Jakob disease, familial Creutzfeldt-Jakob disease, sporadic Creutzfeldt-Jakob disease, variant inherited Creutzfeldt-Jakob disease MONDO:0007404 Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism. 5p deletion syndrome 5p partial monosomy syndrome Cat-Cry syndrome Cri du chat syndrome Cri-du-chat syndrome chromosome 5 short arm deletion syndrome chromosome 5p deletion syndrome deletion 5p monosomy type 5p 5p minus syndrome 5p- syndrome Cat Cry syndrome chromosome 5P deletion syndrome chromosome 5p- syndrome monosomy 5p Cri-du-chat syndrome MONDO:0007405 Crouzon disease is characterized by craniosynostosis and facial hypoplasia. https://github.com/monarch-initiative/mondo/issues/4948 Crouzon craniofacial dysostosis Crouzon syndrome craniofacial dysostosis Cfd1 Crouzon disease Crouzon's disease craniofacial dysostosis type 1 craniofacial dysostosis, type 1 Crouzon syndrome https://rarediseases.info.nih.gov/diseases/6206/crouzon-syndrome MONDO:0007406 cryofibrinogenemia, familial primary cryofibrinogenemia, familial primary MONDO:0007407 Mixed cryoglobulinemia (MC) is a rare multisystem disease characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifested clinically by a classical triad of purpura, weakness and arthralgia. MC essential cryoglobulinemia essential mixed cryoglobulinemia mixed cryoglobulinemia primary cryoglobulinemia Meltzer syndrome cryoglobulinemia, familial mixed familial mixed cryoglobulinemia Cryoglobulinemic vasculitis MONDO:0007408 cryptotia, familial cryptotia, familial MONDO:0007409 Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission. There have been no further descriptions in the literature since 1988. Cryptomicrotia-brachydactyly syndrome Tonoki-Ohura-Niikawa syndrome CRYPTOMICROTIA-brachydactyly syndrome Cryptomicrotia brachydactyly syndrome Cryptomicrotia brachydactyly syndrome excess fingertip arch Tonoki Ohura Niikawa syndrome bilateral cryptomicrotia, brachytelomesophalangy, hypoplastic toe nails, and excess fingertip arch cryptomicrotia-brachydactyly-excess fingertip arch syndrome MONDO:0007410 Isolated cryptophtalmia is a congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral crytophthalmia have been described. Transmission is autosomal dominant. nonsyndromic cryptophthalmia ankyloblepharon, simple cryptophthalmos with microphthalmia and Peters anomaly cryptophthalmos, unilateral or bilateral, isolated isolated cryptophthalmia MONDO:0007411 Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the ELN gene. https://github.com/monarch-initiative/mondo/issues/4521 cutis laxa, autosomal dominant ADCL1 ELN autosomal dominant cutis laxa autosomal dominant cutis laxa caused by mutation in ELN cutis laxa, autosomal dominant 1 cutis laxa, autosomal dominant type 1 autosomal dominant cutis laxa 1 cutis laxa, autosomal dominant 1 MONDO:0007412 A severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy. https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5682 Beare-Stevenson cutis gyrata syndrome BSTVS Beare Stevenson syndrome Beare-Stevenson syndrome cutis gyrata - acanthosis nigricans - craniosynostosis cutis gyrata syndrome of Beare and Stevenson cutis gyrata-acanthosis nigricans-craniosynostosis syndrome Beare-Stevenson cutis gyrata syndrome https://rarediseases.info.nih.gov/diseases/332/beare-stevenson-cutis-gyrata-syndrome MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects. CYPRUS facial neuromusculoskeletal syndrome unusual facial appearance, skeletal deformities, and musculoskeletal and sensory defects Cyprus facial-neuromusculoskeletal syndrome https://rarediseases.info.nih.gov/diseases/9487/cyprus-facial-neuromusculoskeletal-syndrome MONDO:0007414 Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture. https://github.com/monarch-initiative/mondo/issues/4948 Gorham disease Gorham syndrome Gorham-Stout disease idiopathic massive osteolysis progressive massive osteolysis vanishing bone disease cystic angiomatosis of bone diffuse cystic angiomatosis of bone, diffuse osteolysis massive osteolysis, massive Gorham-Stout disease MONDO:0007415 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the BCS1L gene. BCS1L mitochondrial complex III deficiency mitochondrial complex III deficiency caused by mutation in BCS1L Complex 3 mitochondrial respiratory chain deficiency MC3DN1 mitochondrial Complex 3 deficiency, nuclear type 1 mitochondrial complex III deficiency mitochondrial complex III deficiency, nuclear type 1 mitochondrial complex III deficiency nuclear type 1 https://rarediseases.info.nih.gov/diseases/8295/mitochondrial-complex-iii-deficiency MONDO:0007416 A chronic tubulointerstitial nephropathy that affects people in certain rural areas along the Danube river in the Balkans. It leads to end-stage renal disease. Balkan endemic nephropathy Chinese herb endemic nephropathy Danubian endemic familial nephropathy aristolochic acid nephropathy endemic nephropathy AAN BEN DEFN nephropathia epidemica Balkan nephropathy MONDO:0007417 Darier disease (DD) is a keratinization disorder characterized by the development of keratotic papules in seborrheic areas and specific nail anomalies. Darier disease Darier's disease Darier-White disease keratosis follicularis DAR Darier White disease Darier disease, acral hemorrhagic type Darier disease, segmental dar Darier disease MONDO:0007418 Darwinian tubercle of pinna Darwinian Notch Darwinian point of Pinna Editor notes: OMIM treats this as two diseases Darwinian tubercle of pinna MONDO:0007420 Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges. DDOD syndrome autosomal dominant deafness-onychodystrophy syndrome deafness-onychodystrophy syndrome, autosomal dominant DDOD Ddod syndrome Robinson Miller Bensimon syndrome Robinson-Miller-Bensimon syndrome deafness and onychodystrophy, dominant form deafness, congenital, and onychodystrophy, autosomal dominant deafness, congenital, with onychodystrophy, autosomal dominant familial ectodermal dysplasia with sensori-neural deafness and other anomalies autosomal dominant deafness - onychodystrophy syndrome https://rarediseases.info.nih.gov/diseases/4732/autosomal-dominant-deafness-onychodystrophy-syndrome MONDO:0007421 Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three sibs and their mother. Inheritance is autosomal dominant. Sellars-Beighton syndrome deafness, conductive stapedial, with EAR malformation and facial palsy deafness-ear malformation-facial palsy syndrome MONDO:0007422 PPK mutilans and deafness Vohwinkel syndrome keratoderma hereditarium mutilans mutilating keratoderma of Vohwinkel mutilating keratoderma plus deafness KHM VOWNKL deafness, congenital, with KERATOPACHYDERMIA and constrictions of fingers and toes mutilating keratoderma keratoderma hereditarium mutilans MONDO:0007423 deafness, mid-tone neural deafness, mid-tone neural MONDO:0007424 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIAPH1 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 Konigsmark syndrome LFHL1 hereditary low frequency hearing loss 1 DFNA1 DIAPH1 autosomal dominant nonsyndromic deafness autosomal dominant deafness 1 autosomal dominant nonsyndromic deafness 1 autosomal dominant nonsyndromic deafness caused by mutation in DIAPH1 autosomal dominant nonsyndromic deafness type 1 deafness, autosomal dominant 1 deafness, autosomal dominant 1, with or without thrombocytopenia deafness, autosomal dominant type 1 deafness, progressive Low tone hereditary Low frequency hearing loss autosomal dominant nonsyndromic hearing loss 1 MONDO:0007425 deafness, sensorineural, with peripheral neuropathy and arterial disease deafness, sensorineural, with peripheral neuropathy and arterial disease MONDO:0007426 deafness, unilateral deafness, unilateral MONDO:0007427 deafness with anhidrotic ectodermal dysplasia deafness with anhidrotic ectodermal dysplasia MONDO:0007428 Deafness-craniofacial syndrome is characterised by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant. deafness-craniofacial syndrome deafness craniofacial syndrome deafness-craniofacial syndrome https://rarediseases.info.nih.gov/diseases/1686/deafness-craniofacial-syndrome MONDO:0007429 https://github.com/monarch-initiative/mondo/issues/4521 optic atrophy plus syndrome optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy dominant optic atrophy plus syndrome optic atrophy 1 and deafness optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy MONDO:0007430 dens evaginatus dens evaginatus MONDO:0007431 dens in dente and palatal INVAGINATIONS dens in dente and palatal invaginations MONDO:0007432 CADASIL cerebral arteriopathy with subcortical infaracts and leukoencephalopathy cerebral arteriopathy with subcortical infarcts and leukoencephalopathy Casil cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy dementia, hereditary multi-infarct type cerebral arteriopathy with subcortical infarcts and leukoencephalopathy MONDO:0007433 dementia/parkinsonism with non-Alzheimer amyloid plaques dementia/parkinsonism with non-Alzheimer amyloid plaques MONDO:0007434 PFE primary retention of teeth dental noneruption failure of tooth eruption, primary posterior Openbite malocclusion, familial primary failure of eruption, nonsyndromic unerupted second primary molar primary failure of tooth eruption MONDO:0007435 Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation. DRPLA Dentatorubropallidoluysian atrophy Naito-Oyanagi disease dentatorubral-pallidoluysian atrophy haw River syndrome NOD Naito Oyanagi disease ataxia, chorea, seizures, and dementia dentatorubral pallidoluysian atrophy myoclonic epilepsy with choreoathetosis dentatorubral-pallidoluysian atrophy https://rarediseases.info.nih.gov/diseases/5643/dentatorubral-pallidoluysian-atrophy MONDO:0007436 Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD) characterized by sharp conical short roots or rootless teeth. https://github.com/monarch-initiative/mondo/issues/4521 DD-I DTDP1 dentin dysplasia type I dentin dysplasia, type i, with microdontia and misshapen teeth radicular dentin dysplasia dentin dysplasia, Shields type 1 dentin dysplasia, type 1 dentin dysplasia, type I dentin dysplasia, type I, with extreme microdontia and misshapen teeth rootless teeth dentin dysplasia type I https://rarediseases.info.nih.gov/diseases/1807/dentin-dysplasia-type-1 MONDO:0007437 Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD) characterized by normal tooth roots but abnormal primary dentition. DD-II DTDP2 Dtdp2 anomalous dysplasia of dentin coronal dentin dysplasia dentin dyspalsia, Shields type 2 dentin dysplasia, Shields type 2 dentin dysplasia, coronal dentin dysplasia, type 2 dentin dysplasia, type II pulp stones pulpal dysplasia dentin dysplasia type II MONDO:0007438 Dentin dysplasia-sclerotic bones syndrome is a rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977. dentin dysplasia sclerotic bones dentin dysplasia with sclerotic bones sclerotic bones with dentin dysplasia dentin dysplasia-sclerotic bones syndrome MONDO:0007439 deoxyribose-5-phosphate aldolase deficiency deoxyribose-5-phosphate aldolase deficiency MONDO:0007440 MAFD1 major affective disorder 1 MAJOR affective disorder 1 bipolar affective disorder manic-depressive psychosis manic-depressive psychosis, autosomal major affective disorder 1 MONDO:0007441 Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI) and is characterized by weakness and discoloration of all teeth. https://github.com/monarch-initiative/mondo/issues/4521 Capdepont teeth DGI-2 DI-2 dentinogenesis imperfecta type 1 dentinogenesis imperfecta, Shields type 2 dentinogenesis imperfecta, Shields type II DGI-II DGI1 dentinogenesis imperfecta 1 dentinogenesis imperfecta without osteogenesis imperfecta opalescent dentin opalescent teeth without osteogenesis imperfecta dentinogenesis imperfecta type 2 MONDO:0007442 Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy). dentinogenesis imperfecta, Shields type 3 DGI-III brandywine type dentinogenesis imperfecta dentinogenesis imperfecta Shields type 3 dentinogenesis imperfecta type III dentinogenesis imperfecta, Shields type III dentinogenesis imperfecta type 3 https://rarediseases.info.nih.gov/diseases/10144/dentinogenesis-imperfecta-type-3 MONDO:0007443 Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood). https://github.com/monarch-initiative/mondo/issues/4069 isolated asymmetric crying facies Cayler cardiofacial syndrome asymmetric crying facies depressor anguli oris muscle, hypoplasia of facial paresis, partial, unilateral Editor note: TODO check relationship to 22q11.2 deletion syndrome congenital unilateral hypoplasia of depressor anguli oris MONDO:0007444 dermal Ridges, patternless dermal Ridges, patternless MONDO:0007445 dermatopathia pigmentosa reticularis DPR dermatopathia pigmentosa reticularis https://rarediseases.info.nih.gov/diseases/8550/dermatopathia-pigmentosa-reticularis MONDO:0007446 A benign skin condition commonly seen in dark-skinned individuals that is characterized by multiple small hyperpigmented papular lesions resembling seborrheic keratosis on the face and upper body. dermatosis papulosa nigra dermatosis papulosa nigra (morphologic abnormality) dermatosis papulosa nigra MONDO:0007447 An autosomal dominant disease characterized by localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum. angioedema, vibratory vibratory angioedema DDU VBU dermodistortive urticaria vibratory urticaria, autosomal dominant autosomal dominant vibratory urticaria MONDO:0007448 Familial dermographism is a condition also known as skin writing. When people who have dermatographia lightly scratch their skin, the scratches redden into a raised wheal similar to hives. Signs and symptoms of dermatographia include raised red lines, swelling, inflammation, hive-like welts and itching. Symptoms usually disappear within 30 minutes. The exact cause of this condition is unknown. Treatment may invovle use of antihistamines if symptoms do not go away on their own. dermatographic urticaria dermographism DDU Dermatographism, familial Dermodistortive urticaria VBU dermatographia dermo-distortive urticaria dermographism, familial familial dermatographism familial dermographism vibratory angioedema vibratory urticaria familial dermatographia https://rarediseases.info.nih.gov/diseases/9480/familial-dermographism MONDO:0007449 Dermo-odonto dysplasia belongs to the group of tricho-odonto-onychial dysplasias. It is characterised by signs of variable severity: dry and thin skin, dental anomalies, nail alteration and trichodysplasia. Fourteen cases have been described so far. Autosomal dominant transmission is likely. dermo-odonto dysplasia DERMOODONTODYSPLASIA dermo odontodysplasia dermo-odonto-dysplasia dermoodonto dysplasia ectodermal dysplasia, hair-nail-Tooth type dermo-odonto dysplasia MONDO:0007450 Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis. ADH deficiency AVP deficiency Arginine vasopressin deficiency antidiuretic hormone deficiency diabetes insipidus of pituitary gland hereditary CDI hereditary neurogenic diabetes insipidus pituitary diabetes insipidus pituitary gland diabetes insipidus vasopressin defective diabetes insipidus vasopressin deficiency diabetes insipidus, cranial type diabetes insipidus, neurohypophyseal diabetes insipidus, primary central hereditary central diabetes insipidus neurogenic diabetes insipidus neurohypophyseal diabetes insipidus MONDO:0007451 https://github.com/monarch-initiative/mondo/issues/4521 diabetes insipidus, nephrogenic, 2 diabetes insipidus, nephrogenic, autosomal diabetes insipidus, nephrogenic, type 2 diabetes insipidus, nephrogenic, autosomal MONDO:0007452 Monogenic diabetes caused by inactivating mutation(s) in the gene HNF4A, encoding hepatocyte nuclear factor 4-alpha. https://github.com/monarch-initiative/mondo/issues/4521 HNF4A-associated monogenic diabetes MODY type 1 MODY, type I MODY1 diabetes mellitus type 2 hepatocyte nuclear Factor 4-Alpha associated monogenic diabetes maturity onset diabetes of the Young, type 1 mild juvenile diabetes mellitus MODY HNF4A related MODY, type 1 diabetes mellitus MODY type 1 maturity-onset diabetes of the young, type 1 type 1 maturity-onset diabetes of the young maturity-onset diabetes of the young type 1 https://rarediseases.info.nih.gov/diseases/3418/maturity-onset-diabetes-of-the-young-type-1 MONDO:0007453 Monogenic diabetes caused by inactivating mutation(s) in the GCK gene, encoding glucokinase. Heterozygous GCK mutations may manifest as mild hyperglycemia, which is not progressive, and usually requires no treatment. Homozygous GCK mutations result in permanent neonatal diabetes. https://github.com/monarch-initiative/mondo/issues/4521 GCK maturity-onset diabetes of the young (disease) GCK-associated diabetes mellitus MODY 2 monogenic diabetes type 2 MODY glucokinase-related MODY type 2 MODY, type II MODY2 glucokinase-associated diabetes mellitus maturity onset diabetes of the Young, type 2 maturity-onset diabetes of the young (disease) caused by mutation in GCK MODY, glucokinase-related MODY, type 2 diabetes mellitus MODY type 2 maturity-onset diabetes of the young, type 2 type 2 maturity-onset diabetes of the young maturity-onset diabetes of the young type 2 https://rarediseases.info.nih.gov/diseases/10657/maturity-onset-diabetes-of-the-young-type-2 MONDO:0007454 Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the INS gene. https://github.com/monarch-initiative/mondo/issues/5033 IDDM2 INS type 1 diabetes mellitus diabetes mellitus, insulin-dependent, type 2 insulin-dependent diabetes mellitus 2 type 1 diabetes mellitus caused by mutation in INS diabetes mellitus, insulin-dependent, 2 type 1 diabetes mellitus 2 MONDO:0007456 diarrhea, glucose-stimulated secretory, with common variable immunodeficiency diarrhea, glucose-stimulated secretory, with common variable immunodeficiency MONDO:0007457 diastema, dental medial diastema, dental medial MONDO:0007458 digitotalar dysmorphism ulnar drift, hereditary digitotalar dysmorphism; ulnar drift, hereditary MONDO:0007459 dilution, pigmentary Albinoidism, oculocutaneous, autosomal dominant albinism, partial hypomelanotic disorder hypopigmentation dilution, pigmentary MONDO:0007460 discrimination, Two-point, reduction type 1N discrimination, TWO-point, reduction IN sensory discrimination discrimination, Two-point, reduction 1N MONDO:0007461 Short stature-valvular heart disease-characteristic facies syndrome is characterised by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait. disproportionate short stature with ptosis and valvular heart lesions short stature-valvular heart disease-characteristic facies syndrome MONDO:0007462 MS disseminated sclerosis multiple sclerosis, susceptibility to MONDO:0007463 distal osteosclerosis osteosclerosis, distal distal osteosclerosis MONDO:0007465 https://github.com/monarch-initiative/mondo/issues/4069 distichiasis with congenital anomalies of the heart and peripheral vasculature distichiasis-congenital heart defects-peripheral vascular anomalies syndrome distichiasis with congenital anomalies of the heart and peripheral vasculature MONDO:0007466 DNA, satellite, type 3 D1Z1 DNA, satellite, III HS3 Editor note: TODO check DNA, satellite, 3 MONDO:0007467 DNA, low-repetitive sequences of repetitive sequence DNA Editor note: TODO check DNA, low-repetitive sequences of MONDO:0007469 double nail for fifth toe Double nails on the fifth toe fifth toe, double nails double nail for fifth toe https://rarediseases.info.nih.gov/diseases/9672/double-nails-on-the-fifth-toe MONDO:0007470 This syndrome is characterised by multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia familial doughnut lesions of skull doughnut lesions of skull, familial calvarial doughnut lesions-bone fragility syndrome MONDO:0007471 Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and causes vision loss. It is characterized bysmall, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium(the pigmented layer of the retina). Over time, drusen may grow and come together, creating a honeycomb pattern. It usually begins in early to mid adulthood, but the age of onset varies.The degree of vision loss also varies. DHRD is usually caused by mutations in the EFEMP1 gene and is inherited in an autosomal dominant manner. DHRD Doyne honeycomb degeneration of retina Doyne honeycomb retinal dystrophy Malattia leventinese dominant drusen dominant radial drusen DHD drusen, radial, autosomal dominant familial drusen Doyne honeycomb retinal dystrophy https://rarediseases.info.nih.gov/diseases/1912/doyne-honeycomb-retinal-dystrophy MONDO:0007472 A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has material basis in mutations in the CFH gene on chromosome 1q31.3. basal laminar drusen cuticular drusen drusen of Bruch membrane early adult-onset grouped drusen drusen, cuticular drusen, early adult-onset, grouped basal laminar drusen MONDO:0007473 Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia. DRS DURS Duane retraction syndrome Duane syndrome Duane's syndrome Stilling-Turk-Duane syndrome Duane anomaly retraction syndrome Duane retraction syndrome https://rarediseases.info.nih.gov/diseases/6288/duane-syndrome MONDO:0007474 duodenal ulcer due to antral G-cell hyperfunction hypergastrinemic, hyperpepsinogenemic duodenal ulcer duodenal ulcer due to antral G-cell hyperfunction https://rarediseases.info.nih.gov/diseases/9743/duodenal-ulcer-due-to-antral-g-cell-hyperfunction MONDO:0007475 duodenal Ulcer, hyperpepsinogenemic type 1 duodenal ulcer, hyperpepsinogenemic I duodenal ulcer, hyperpepsinogenemic 1 MONDO:0007476 Familial Dupuyren contracture is a rare, genetic, epidermal disease characterized by a, usually unilateral, progressive thickening and shortening of the palmar fascia, leading to permanent flexion contracture of the digits in several members of a family. It most commonly affects the fourth digit, followed by the fifth and then the third (first and second digits are usually spared). Dupuytren contracture Dupuytren contracture 1 plantar fibromas plantar fibromatosis, familial familial Dupuytren contracture MONDO:0007477 3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence. 3-M syndrome Dolichospondylic dysplasia Le Merrer syndrome Miller-McKusick-Malvaux syndrome Yakut short stature syndrome dolichospondylic dysplasia gloomy face syndrome three M syndrome 3M1 three M syndrome 1 3-MSBN 3M syndrome dwarfism with tall vertebrae gloomy face syndrome Yakut short stature syndrome, included three-M slender-boned nanism 3-M syndrome MONDO:0007478 An autosomal dominant form of Kenny-Caffey Syndrome due to mutation(s) in the FAM111A gene, encoding protein FAM111A. This condition is characterized by transient hypocalcemia, delayed closure of the anterior fontanel, eye anomalies, including microphthalmia, proportionate short stature, and cortical thickening and medullary stenosis of the tubular bones. https://github.com/monarch-initiative/mondo/issues/4948 Kenny syndrome Kenny-Caffey syndrome type 2 Kenny-Caffey syndrome, autosomal dominant KCS2 Kenny-Caffey syndrome, type 2 dwarfism, cortical thickening of tubular bones and transient hypocalcemia dwarfism, cortical thickening of tubular bones, and transient hypocalcemia autosomal dominant Kenny-Caffey syndrome https://rarediseases.info.nih.gov/diseases/83/kenny-caffey-syndrome-type-2 MONDO:0007479 dwarfism, Levi type dwarfism Levi type dwarfism Levi's type snub-nosed type of dwarfism dwarfism, Levi type https://rarediseases.info.nih.gov/diseases/6294/dwarfism-levi-type MONDO:0007480 dwarfism with stiff joints and ocular abnormalities Moore-Federman syndrome dwarfism with stiff joints and ocular abnormalities MONDO:0007481 Leri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 LWD Leri Weill dyschondrosteosis Leri-Weill dyschondrosteosis Leri-Weill dyschondrosteosis, Pseudoautosomal dominant Leri-Weill dyschondrostosis Leri-Weill syndrome Léri-Weill dyschondrosteosis Léri-Weill syndrome DCo Madelung deformity dyschondrosteosis Leri-Weill dyschondrosteosis https://rarediseases.info.nih.gov/diseases/3224/leri-weill-dyschondrosteosis MONDO:0007482 Dyschondrosteosis - nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity, with hereditary nephritis. dyschondrosteosis and nephritis dyschondrosteosis nephritis mesomelic shortening and hereditary nephritis dyschondrosteosis-nephritis syndrome https://rarediseases.info.nih.gov/diseases/1994/dyschondrosteosis-nephritis MONDO:0007483 Acropigmentation of Dohi is a genodermatosis characterised by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs. DSH1 RAD acropigmentation of Dohi dyschromatosis symmetrica hereditaria reticulate acropigmentation of Dohi DSH dyschromatosis symmetrica hereditaria 1 familial reticulate acropigmentation of Dohi symmetric dyschromatosis of the extremities dyschromatosis symmetrica hereditaria MONDO:0007485 A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERC on chromosome 3q26.2. DKCA1 dyskeratosis congenita, Scoggins type dyskeratosis congenita, autosomal dominant 1 dyskeratosis congenita, autosomal dominant type 1 DKCA autosomal dominant dyskeratosis congenita autosomal dominant dyskeratosis congenita 1 dyskeratosis congenita Scoggins type dyskeratosis congenita autosomal dominant dyskeratosis congenita, autosomal dominant 1 https://rarediseases.info.nih.gov/diseases/6299/dyskeratosis-congenita-autosomal-dominant MONDO:0007486 A rare genetic disorder with an autosomal dominant pattern of inheritance with variable penetrance. It was initially described among Native Americans belonging to the Haliwa-Saponi tribe of northeastern North Carolina. It is caused by a duplication of chromosomal DNA at 4q35. Clinical signs present in early childhood and include asymptomatic plaques of the epibulbar conjunctivae and oral mucosa. Clinical progression of the plaques to malignancy has not been reported. HBID Witkop-Von Sallmann disease hereditary benign corneal intraepithelial dyskeratosis Dkbi dyskeratosis, hereditary benign intraepithelial hereditary benign intraepithelial dyskeratosis MONDO:0007487 dyslexia, susceptibility to, 1 dyslexia, susceptibility to, type 1 DYX1 Word-blindness, congenital dyslexia, susceptibility to, 4 dyslexia, susceptibility to, 7 reading disability, specific, 1 susceptibility to dyslexia 1 dyslexia, susceptibility to, 1 MONDO:0007488 A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease. https://github.com/monarch-initiative/mondo/issues/4521 DLB Lewy body dementia Lewy body disease Senile dementia of the Lewy body type cortical Lewy body disease dementia with Lewy bodies lewy body dementia, susceptibility to Lewy body variant of Alzheimer disease dementia, Lewy body diffuse Lewy body disease diffuse Lewy body disease with gaze palsy Lewy body dementia MONDO:0007489 Dysplasia epiphysealis hemimelica (DEH), or Trevor's disease, is a rare condition that most commonly affects the epiphysis (the end) of long bones in children. Early diagnosis and treatment are necessary to prevent joint dysfunction and deformity and may be surgical or non-surgical depending on the location and the symptoms. Due to the progressive nature of this disorder and the chance of worsening deformity, patients should be followed until skeletal maturity. The cause of dysplasia epiphysealis hemimelica is not known. https://github.com/monarch-initiative/mondo/issues/4948 Trevor disease dysplasia epiphysealis hemimelica dysplasia epiphysealis hemimelica https://rarediseases.info.nih.gov/diseases/2019/dysplasia-epiphysealis-hemimelica MONDO:0007490 Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs. Maroteaux-Le Merrer-Bensahel syndrome Maroteaux Le Merrer Bensahel syndrome dominant carpotarsal osteochondromatosis dysplasia epiphysealis hemimelica with CHONDROMAS and osteochondromas osteochondromatosis, dominant carpotarsal carpotarsal osteochondromatosis https://rarediseases.info.nih.gov/diseases/1128/carpotarsal-osteochondromatosis MONDO:0007491 dystelephalangy Kirner deformity congenital bilateral metadiaphyseal acrodysplasia of the little finger dystelephalangy https://rarediseases.info.nih.gov/diseases/10059/dystelephalangy MONDO:0007492 A rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body. https://github.com/monarch-initiative/mondo/issues/4521 DYT-TOR1A DYT1 EOTD Oppenheim dystonia Oppenheim's dystonia dystonia musculorum deformans dystonia-1, torsion early onset primary dystonia early onset torsion dystonia early-onset generalized limb-onset dystonia early-onset generalized torsion dystonia early-onset primary dystonia early-onset torsion dystonia idiopathic dystonia torsion dystonia type 1 DYT-TOR1A dystonia Dyt1 Early-onset Primary dystonia Early-onset torsion dystonia Primary torsion dystonia dystonia 1 dystonia 1, torsion, Autosomal dominant dystonia 1, torsion, autosomal dominant dystonia musculorum deformans 1 idiopathic dystonia DYT1 idiopathic torsion dystonia torsion dystonia 1 torsion dystonia 1, autosomal dominant early-onset generalized limb-onset dystonia https://rarediseases.info.nih.gov/diseases/2027/early-onset-generalized-dystonia MONDO:0007493 DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis). DYT4 hereditary whispering dysphonia torsion dystonia type 4 whispering dysphonia autosomal dominant torsion dystonia-4 dystonia 4, torsion, autosomal dominant dystonia musculorum deformans 4 primary dystonia, DYT4 type whispering dysphonia, hereditary torsion dystonia 4 MONDO:0007495 Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age. https://github.com/monarch-initiative/mondo/issues/4521 DYT-GCH1 DYT5a GTP cyclohydrolase 1-deficient dopa-responsive dystonia GTPCH1-deficient DRD GTPCH1-deficient dopa-responsive dystonia HPD with marked diurnal fluctuation autosomal dominant Segawa syndrome dystonia 5 dystonia type 5 dystonia, DOPA-responsive, with or without hyperphenylalaninemia hereditary progressive dystonia with marked diurnal fluctuation DRD Dopa-responsive dystonia, autosomal dominant Dopa-responsive dystonia; Segawa syndrome AD Segawa syndrome, autosomal dominant autosomal dominant dopa-responsive dystonia dystonia, DOPA-responsive dystonia, Dopa-responsive, autosomal dominant dystonia, progressive, with diurnal variation dystonia-Parkinsonism with diurnal fluctuation dystonia 5 MONDO:0007496 Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress. https://github.com/monarch-initiative/mondo/issues/4521 ATP1A3 dystonic disorder DYT-ATP1A3 DYT12 dystonia 12 dystonia type 12 dystonia-12 dystonic disorder caused by mutation in ATP1A3 RDP dystonia-Parkinsonism, rapid-onset rapid-onset dystonia-parkinsonism dystonia 12 MONDO:0007497 ear antitragus, tag at base of ear antitragus, tag at base of MONDO:0007498 ear exostoses exostoses of external auditory canal ear exostoses MONDO:0007499 ear folding ear folding MONDO:0007500 ear malformation cup Ear ear malformation MONDO:0007501 https://github.com/monarch-initiative/mondo/issues/4069 preauricular fistulae, congenital Ear pits Pafc preauricular fistulae, congenital MONDO:0007502 ear pits, posterior helical earlobe Indentations, posterior posterior helical Ear pits ear pits, posterior helical MONDO:0007503 ear without helix ear without helix MONDO:0007504 Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant. Escher-Hirt syndrome Escher Hirt syndrome earlobes, thickened, with conductive deafness from incudostapedial abnormalities thickened earlobes-conductive deafness syndrome MONDO:0007505 earring holes, natural earlobe sinuses earring holes, natural MONDO:0007507 Absence of fingerprints-congenital milia syndrome is characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait. https://github.com/monarch-initiative/mondo/issues/4069 Baird syndrome absence of dermatoglyphics-congenital milia syndrome Basan syndrome absence of dermatoglyphics congenital milia absence of fingerprints congenital milia adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, and Simian Crease absence of fingerprints-congenital milia syndrome https://rarediseases.info.nih.gov/diseases/2336/absence-of-fingerprints-congenital-milia MONDO:0007508 A form of ectodermal dysplasia characterized by the association of anhidrotic ectodermal dysplasia with cleft lip/palate. Rapp-Hodgkin syndrome anhidrotic ectodermal dysplasia with cleft lip/palate OFC8, included RHS Rapp-Hodgkin ectodermal dysplasia syndrome cleft lip with or without cleft palate, nonsyndromic, 8 ectodermal dysplasia, anhidrotic, with cleft Lip/palate ectodermal dysplasia, anhidrotic, with cleft lip-palate orofacial cleft 8 Rapp-Hodgkin syndrome has signs and symptoms that overlap considerably with those of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. These two syndromes were classified as separate disorders until it was discovered that they both result from mutations in the same part of the same gene. Most researchers now consider Rapp-Hodgkin syndrome and AEC syndrome to be part of the same disease spectrum Rapp-Hodgkin syndrome https://rarediseases.info.nih.gov/diseases/5690/rapp-hodgkin-syndrome MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ECTD10A ectodermal dysplasia hypohidrotic autosomal dominant ectodermal dysplasia, hypohidrotic, autosomal dominant hypohidrotic ectodermal dysplasia autosomal dominant ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant MONDO:0007510 Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis. Clouston syndrome Clouston's hidrotic ectodermal dysplasia Clouston's syndrome hidrotic ectodermal dysplasia hidrotic ectodermal dysplasia syndrome Clouston hidrotic ectodermal dysplasia ED2 Patel Bixler syndrome alopecia, dysplastic nails, palmar and plantar hyperkeratosis autosomal dominant hidrotic ectodermal dysplasia ectodermal dysplasia 2, Clouston type ectodermal dysplasia, hidrotic ectodermal dysplasia, hidrotic, 2 ectodermal dysplasia, hidrotic, 2, formerly ectodermal dysplasia, hidrotic, autosomal dominant hidrotic ectodermal dysplasia, autosomal dominant palmoplantar hyperkeratosis and alopecia Clouston syndrome MONDO:0007511 Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996. ectodermal dysplasia, trichoodontoonychial type ectodermal dysplasia trichoodontoonychial type ectodermal dysplasia, trichoodontoonychial type https://rarediseases.info.nih.gov/diseases/2055/ectodermal-dysplasia-trichoodontoonychial-type MONDO:0007512 ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet MONDO:0007513 Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome ectodermal dysplasia with adrenal cyst ectodermal dysplasia with adrenal cyst MONDO:0007514 Any isolated ectopia lentis in which the cause of the disease is a mutation in the FBN1 gene. https://github.com/monarch-initiative/mondo/issues/4521 ECTOL1 FBN1 isolated ectopia lentis ectopia lentis 1, isolated, autosomal dominant ectopia lentis, familial isolated ectopia lentis caused by mutation in FBN1 autosomal dominant isolated ectopia lentis 1 ectopia lentis 1, isolated, autosomal dominant MONDO:0007515 ectopia pupillae (disease) ectopia pupillae ectopia pupillae (disease) congenital eye malformation in which the pupils are displaced from their normal central position familial ectopic pupil ectopia pupillae MONDO:0007516 ectrodactyly and ectodermal dysplasia without cleft lip/palate ectrodactyly-ectodermal dysplasia without clefting syndrome EEC syndrome without cleft Lip/palate ectrodactyly and ectodermal dysplasia without cleft lip/palate MONDO:0007517 ectrodactyly-cleft palate syndrome Ecp syndrome ectrodactyly-cleft palate syndrome MONDO:0007518 edema, familial idiopathic, prepubertal edema, familial idiopathic, prepubertal MONDO:0007519 Edinburgh malformation syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and death within a few months of birth. Carp mouth, hairiness of the forehead, neonatal hyperbilirubinemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991. Edinburgh malformation syndrome typus Edinburgensis Edinburgh malformation syndrome https://rarediseases.info.nih.gov/diseases/2074/edinburgh-malformation-syndrome MONDO:0007520 An EEC syndrome characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 7q11.2-q21.3. https://github.com/monarch-initiative/mondo/issues/4521 EEC syndrome 1 EEC syndrome-1 EEC1 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome type 1 EEC ectrodactyly, ectodermal dysplasia, and cleft LIP/palate syndrome 1 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 MONDO:0007522 Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome that affects the connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility. EDS, classic type Ehlers-Danlos syndrome classic type Ehlers-Danlos syndrome, classic type EDS I EDS I, formerly EDS II EDS II, formerly Ehlers Danlos syndrome, mild classic type Ehlers Danlos syndrome, mild classic type, formerly Ehlers Danlos syndrome, mitis type Ehlers Danlos syndrome, mitis type, formerly Ehlers-Danlos syndrome classical type Ehlers-Danlos syndrome type 1 (formerly) Ehlers-Danlos syndrome type 2 Ehlers-Danlos syndrome type 2 (formerly) Ehlers-Danlos syndrome, gravis type Ehlers-Danlos syndrome, gravis type, formerly Ehlers-Danlos syndrome, severe classic type Ehlers-Danlos syndrome, severe classic type, formerly Ehlers-Danlos syndrome, type I Ehlers-Danlos syndrome, type I, formerly Ehlers-Danlos syndrome, type II Ehlers-Danlos syndrome, type II, formerly classic Ehlers-Danlos syndrome classical Ehlers-Danlos syndrome Ehlers-Danlos syndrome, classic type MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS, a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations. BJHS EDS III EDSHMB Ehlers-Danlos syndrome type 3 Ehlers-Danlos syndrome type 3 (formerly) Ehlers-Danlos syndrome, hypermobile type Ehlers-Danlos syndrome, hypermobility type Ehlers-Danlos syndrome, type 3 Ehlers-Danlos syndrome, type III HT-EDS benign joint hypermobility syndrome EDS 3 EDS3 (formerly) benign hypermobility syndrome hEDS hypermobile EDS hypermobile Ehlers-Danlos syndrome Ehlers-Danlos syndrome, hypermobility type MONDO:0007524 The autosomal dominant form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported. EDS 4 Ehlers-Danlos syndrome, vascular type Ehlers-Danlos syndrome, type IV, autosomal dominant Ehlers-Danlos syndrome, vascular type, autosomal dominant autosomal dominant Ehlers-Danlos syndrome, vascular type EDSVASC Ehlers-Danlos syndrome, Ecchymotic type Ehlers-Danlos syndrome, arterial type Ehlers-Danlos syndrome, sack-Barabas type autosomal dominant type IV Ehlers-Danlos syndrome autosomal dominant Ehlers-Danlos syndrome, vascular type MONDO:0007525 Arthrochalasia Ehlers-Danlos syndrome (aEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility ; congenital hip dislocation; fragile, hyperextensible skin; hypotonia ; and kyphoscoliosis (kyphosis and scoliosis). EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms. EDS VII Ehlers-Danlos syndrome type 7 Ehlers-Danlos syndrome, arthrochalasia type Ehlers-Danlos syndrome, type VII EDS 7A EDS 7B AEDS EDS VII, mutant procollagen type EDS7A (formerly) EDSARTH1 Ehlers-Danlos syndrome type 7A (formerly) Ehlers-Danlos syndrome, arthrochalasia type, 1 Ehlers-Danlos syndrome, type VII, autosomal dominant Ehlers-Danlos syndrome, type VIIA, autosomal dominant arthrochalasia EDS arthrochalasia Ehlers-Danlos syndrome arthrochalasis multiplex congenita Ehlers-Danlos syndrome, arthrochalasis type https://rarediseases.info.nih.gov/diseases/2084/arthrochalasia-ehlers-danlos-syndrome MONDO:0007526 A form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars. https://github.com/monarch-initiative/mondo/issues/5682 B4GALT7-CDG EDS, progeroid type Ehlers-Danlos syndrome progeroid type PDS defective biosynthesis of proteodermatan sulfate galactosyltransferase I deficiency EDSSPD1 Ehlers-Danlos syndrome with short stature and limb anomalies Ehlers-Danlos syndrome, spondylodysplastic type, 1 Pds, defective biosynthesis of XGPT deficiency dermatan sulfate proteoglycan galactosyltransferase 1 deficiency proteodermatan sulfate, defective biosynthesis of xylosylprotein 4-beta-galactosyltransferase deficiency Ehlers-Danlos syndrome, progeroid type Ehlers-Danlos syndrome, progeroid type (former) spondylodysplastic Ehlers-Danlos syndrome Ehlers-Danlos syndrome, spondylodysplastic type MONDO:0007527 Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. EDS VIII Ehlers-Danlos syndrome type 8 Ehlers-Danlos syndrome, periodontitis type EDS 8 EDS VIII (formerly) EDS8 EDS8 (formerly) Ehlers-Danlos syndrome type 8 (formerly) Ehlers-Danlos syndrome, periodontosis type Ehlers-Danlos syndrome, type 8 Ehlers-Danlos syndrome, type VIII Ehlers-Danlos syndrome, type VIII (formerly) pEDS periodontal EDS periodontal Ehlers-Danlos syndrome Ehlers-Danlos syndrome, periodontitis type MONDO:0007528 Ehlers-Danlos syndrome, autosomal dominant, type unspecified EDS, unspecified type Ehlers-Danlos syndrome, Friedman-Harrod type Ehlers-Danlos syndrome, autosomal dominant, type unspecified MONDO:0007529 elastosis perforans serpiginosa Miescher elastoma elastoma Intrapapillare perforans verruciformis eps Editor note: currently treat this as genetic, see https://github.com/Orphanet/ORDO/issues/3. Consider adding AD elastosis perforans serpiginosa https://rarediseases.info.nih.gov/diseases/10103/elastosis-perforans-serpiginosa MONDO:0007530 electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon MONDO:0007531 electroencephalographic peculiarity: fronto-precentral beta wave groups electroencephalographic peculiarity: fronto-precentral beta wave groups MONDO:0007533 Any hereditary elliptocytosis in which the cause of the disease is a mutation in the SPTA1 gene. https://github.com/monarch-initiative/mondo/issues/4521 SPTA1 hereditary elliptocytosis elliptocytosis 2 elliptocytosis type 2 elliptocytosis-2 hereditary elliptocytosis caused by mutation in SPTA1 EL2 elliptocytosis, Rhesus-unlinked type elliptocytosis 2 MONDO:0007534 Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations. BWS Beckwith-Wiedemann syndrome Wiedemann-Beckwith syndrome exomphalos-macroglossia-gigantism syndrome Beckwith-Wiedemann syndrome chromosome region EMG syndrome Wiedemann-Beckwith syndrome (WBS) exomphalos macroglossia gigantism syndrome Beckwith-Wiedemann syndrome https://rarediseases.info.nih.gov/diseases/3343/beckwith-wiedemann-syndrome MONDO:0007535 emphysema, hereditary pulmonary emphysema, hereditary pulmonary MONDO:0007536 Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung. congenital lobar hyperinflation infantile lobar hyperinflation CLE emphysema, congenital lobar congenital lobar emphysema MONDO:0007537 Lehman syndrome lateral meningocele syndrome LMNS Lms lateral meningocele syndrome MONDO:0007538 Any amelogenesis imperfecta in which the cause of the disease is a mutation in the FAM83H gene. ADHCAI AI3 FAM83H amelogenesis imperfecta amelogenesis imperfecta caused by mutation in FAM83H amelogenesis imperfecta hypomineralization type amelogenesis imperfecta type 3 amelogenesis imperfecta type III amelogenesis imperfecta, type 3A autosomal dominant amelogenesis imperfecta hypocalcification type AI3A amelogenesis imperfecta type 3A amelogenesis imperfecta, hypocalcification type, autosomal dominant amelogenesis imperfecta, hypomineralization type amelogenesis imperfecta, type 3 amelogenesis imperfecta, type III amelogenesis imperfecta, type IIIA amelogenesis imperfecta, type 3A MONDO:0007539 https://github.com/monarch-initiative/mondo/issues/5671 encephalopathy recurrent of childhood encephalopathy, recurrent, of childhood Neuhauser Eichner Opitz syndrome encephalopathy, recurrent, of childhood https://rarediseases.info.nih.gov/diseases/2117/encephalopathy-recurrent-of-childhood MONDO:0007540 Multiple endocrine neoplasia Type 1 (MEN1) is a frequent form of MEN, a rare inherited cancer syndrome, characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients. https://github.com/monarch-initiative/mondo/issues/4521 multiple endocrine adenomatosis MEA type 1 MEA type I MEN1 MEN1 multiple endocrine neoplasia MEN1 syndrome Wermer syndrome Wermer's syndrome men 1 men type 1 men type I multiple endocrine adenomatosis type 1 multiple endocrine adenomatosis type I multiple endocrine adenomatosis, type I multiple endocrine neoplasia 1 multiple endocrine neoplasia caused by mutation in MEN1 multiple endocrine neoplasia type 1 multiple endocrine neoplasia type 1 syndrome multiple endocrine neoplasia type I multiple endocrine neoplasia, type I MEA 1 MEN1 somatic mutations endocrine adenomatosis multiple endocrine adenomatosis, multiple multiple endocrine neoplasia, type 1 multiple endocrine neoplasia type 1 https://rarediseases.info.nih.gov/diseases/3829/multiple-endocrine-neoplasia-type-1 MONDO:0007541 endometriosis, susceptibility to, 1 endometriosis, susceptibility to, type 1 ENDO1 endometriosis, susceptibility to, 1 MONDO:0007542 Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. https://github.com/monarch-initiative/mondo/issues/4948 Camurati-Engelmann disease Camurati-Engelmann syndrome Camurati-Englemann disease Engelman's disease diaphyseal dysplasia progressive diaphyseal dysplasia CAEND CED DPD1 Engelmann disease diaphyseal dysplasia 1, progressive Camurati-Engelmann disease MONDO:0007543 enolase, sperm specific ENO4 enolase, sperm specific MONDO:0007544 Familial occurrence, with more than one generation being affected, of persistent eosinophilia, an increase in the number of eosinophils in the blood, in the absence of known causal factors. eosinophilia, familial Eos familial eosinophilia eosinophilia, familial https://rarediseases.info.nih.gov/diseases/10521/familial-eosinophilia MONDO:0007545 Eosinophilopenia eosinophil aplasia Eosinophilopenia MONDO:0007546 https://github.com/monarch-initiative/mondo/issues/4521 myeloproliferative disorder with eosinophilia myeloproliferative disorder, chronic, with eosinophilia MPE eosinophils, malignant proliferation of myeloproliferative disorder, chronic, with eosinophilia MONDO:0007547 The most common type of cutaneous cyst. It results from the proliferation of epidermal cells in a circumscribed space within the dermis. It is usually asymptomatic and presents as a firm, round nodule. Epidermal cyst Follicular infundibular cyst epidermal inclusion cyst epidermoid cyst epidermoid cysts epithelial cyst horn cyst inclusion cyst infundibular cyst keratin cyst keratinizing cyst keratinous cyst squamous cyst epidermoid cysts MONDO:0007548 Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. https://github.com/monarch-initiative/mondo/issues/4521 DEB, bullous dermolysis of the newborn DEB-BDN transient bullous dermolysis of the newborn transient bullous of the newborn MONDON TBDN dystrophic epidermolysis bullosa, neonatal epidermolysis bullosa dystrophica, dominant neonatal form epidermolysis bullosa dystrophica, neonatal form transient bullous dermolysis of the newborn https://rarediseases.info.nih.gov/diseases/10010/transient-bullous-dermolysis-of-the-newborn MONDO:0007549 Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails. https://github.com/monarch-initiative/mondo/issues/4521 DDEB, Pasini and Cockayne-Touraine types DDEB, generalized DDEB-gen autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types epidermolysis bullosa dystrophica, AD Albopapuloid dominant dystrophic epidermolysis bullosa DDEB autosomal dominant dystrophic epidermolysis bullosa dominant dystrophic epidermolysis bullosa dominant dystrophic epidermolysis bullosa, generalized dystrophic epidermolysis bullosa, autosomal dominant epidermolysis bullosa dystrophica with subcorneal cleavage epidermolysis bullosa dystrophica, Cockayne-Touraine type epidermolysis bullosa dystrophica, Cockayne-Touraine type (formerly) epidermolysis bullosa dystrophica, Pasini type epidermolysis bullosa dystrophica, Pasini type (formerly) epidermolysis bullosa dystrophica, autosomal dominant generalized dominant dystrophic epidermolysis bullosa MONDO:0007550 A basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration. https://github.com/monarch-initiative/mondo/issues/4499 https://github.com/monarch-initiative/mondo/issues/4521 EBS, generalized severe EBS-gen sev EBSDM epidermolysis bullosa herpetiformis Dowling-Meara type epidermolysis bullosa simplex 1A, generalized severe epidermolysis bullosa simplex Dowling-Meara type epidermolysis bullosa simplex, herpetiformis generalized severe epidermolysis bullosa simplex Dowling-Meara type epidermolysis bullosa simplex EBS-DM epidermolysis bullosa herpetiformis, Dowling-Meara type epidermolysis bullosa simplex, Dowling-Meara type epidermolysis bullosa simplex, generalized severe epidermolysis bullosa simplex 1A, generalized severe https://rarediseases.info.nih.gov/diseases/2141/epidermolysis-bullosa-simplex-dowling-meara-type MONDO:0007551 A basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather. https://github.com/monarch-initiative/mondo/issues/4499 https://github.com/monarch-initiative/mondo/issues/4521 EBS-loc epidermolysis bullosa simplex 1C, localized epidermolysis bullosa simplex of palms and soles epidermolysis bullosa simplex, Weber-Cockayne type localized epidermolysis bullosa simplex EBS, acral form Weber-Cockayne syndrome Weber-Cockayne type epidermolysis bullosa simplex epidermolysis bullosa of hands and feet epidermolysis bullosa simplex, localized epidermolysis bullosa simplex 1C, localized https://rarediseases.info.nih.gov/diseases/2146/epidermolysis-bullosa-simplex-localized MONDO:0007552 Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region. DEB-Pt pretibial DEB Deb, pretibial dystrophic epidermolysis bullosa, pretibial epidermolysis bullosa dystrophica, pretibial epidermolysis bullosa, pretibial pretibial epidermolysis bullosa pretibial dystrophic epidermolysis bullosa MONDO:0007553 epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase MONDO:0007554 Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kobner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction. https://github.com/monarch-initiative/mondo/issues/4499 https://github.com/monarch-initiative/mondo/issues/4521 EBS, generalized intermediate epidermolysis bullosa simplex 1B, generalized intermediate epidermolysis bullosa simplex, Kobner type epidermolysis bullosa simplex, Koebner type epidermolysis bullosa simplex, Köbner type generalized EBS, non-Dowling-Meara type generalized epidermolysis bullosa simplex, non-Dowling-Meara type EBS, generalized EBS-K epidermolysis bullosa simplex, generalized epidermolysis bullosa simplex, generalized intermediate epidermolysis bullosa simplex, generalized non-Dowling-Meara generalized EBS epidermolysis bullosa simplex 1B, generalized intermediate MONDO:0007555 A basal subtype of epidermolysis bullosa simplex (EBS) characterized by sometimes widespread, primarily acral blistering. https://github.com/monarch-initiative/mondo/issues/4499 https://github.com/monarch-initiative/mondo/issues/4521 EBS-O EBS-Og EBSOG epidermolysis bullosa simplex 5A, Ogna type epidermolysis bullosa simplex, Ogna type pidermolysis bullosa simplex 5A, Ogna type https://rarediseases.info.nih.gov/diseases/2148/epidermolysis-bullosa-simplex-ogna-type MONDO:0007556 A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering with mottled or reticulate brown pigmentation. https://github.com/monarch-initiative/mondo/issues/4499 https://github.com/monarch-initiative/mondo/issues/4521 EBS-MP epidermolysis bullosa simplex 2F, with mottled pigmentation epidermolysis bullosa simplex with mottled pigmentation EBS with mottled pigmentation EBSMP speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering epidermolysis bullosa simplex 2F, with mottled pigmentation https://rarediseases.info.nih.gov/diseases/9737/epidermolysis-bullosa-simplex-with-mottled-pigmentation MONDO:0007557 https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 EBD, Bart type epidermolysis bullosa with congenital localized absence of skin and deformity of nails epidermolysis bullosa dystrophica, Bart type epidermolysis bullosa with congenital localized absence of skin and deformity of nails MONDO:0007558 Benign occipital epilepsy is a rare, genetic neurological disorder characterized by visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment of consciousness are typically associated with the Panayiotopoulos type, while visual hallucinations, ictal blindness and post-ictal headache are commonly observed in the Gastaut type. Electroencephalographic findings in both types are similar and include bilateral, synchronous, high voltage spike-wave complexes in a normal background activity located predominantly in the occipital lobes. BOE epilepsy, benign occipital benign occipital epilepsy https://rarediseases.info.nih.gov/diseases/2170/epilepsy-benign-occipital MONDO:0007559 PPR1 photoparoxysmal response 1 Photoconvulsive reaction Ppr epilepsy, photogenic photosensitivity photoparoxysmal response 1 MONDO:0007560 epilepsy, reading reading seizures MONDO:0007561 Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission. https://github.com/monarch-initiative/mondo/issues/4948 COMP multiple epiphyseal dysplasia (disease) EDM1 MED1 Polyepiphyseal dysplasia type 1 epiphyseal dysplasia, multiple, type 1 multiple epiphyseal dysplasia (disease) caused by mutation in COMP epiphyseal dysplasia multiple 1 epiphyseal dysplasia, Fairbank type epiphyseal dysplasia, multiple, 1 epiphyseal dysplasia, ribbing type multiple epiphyseal dysplasia 1 multiple epiphyseal dysplasia COMP-related multiple epiphyseal dysplasia, Comp-related multiple epiphyseal dysplasia type 1 https://rarediseases.info.nih.gov/diseases/2180/multiple-epiphyseal-dysplasia-1 MONDO:0007562 Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits. https://github.com/monarch-initiative/mondo/issues/4521 epiphyseal dysplasia, multiple, with myopia and deafness multiple epiphyseal dysplasia-myopia-deafness syndrome EDMMD epiphyseal dysplasia, multiple, with myopia and conductive deafness multiple epiphyseal dysplasia, Beighton type MONDO:0007564 Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome. https://github.com/monarch-initiative/mondo/issues/4521 benign hair follicle neoplasm benign pilomatricoma benign pilomatrixoma calcifying Epitherlioma of Malherbe epithelioma calcificans of Malherbe pilomatricoma pilomatricoma, somatic pilomatrixoma pilomatrixoma, benign PTR calcifying epithelioma of Malherbe pilomatrixoma https://rarediseases.info.nih.gov/diseases/9452/pilomatrixoma MONDO:0007565 Ancell-Spiegler syndrome turban tumor turban tumor syndrome 'turban tumor' syndrome Ancell-Spiegler Cylindromas CYLD Cylindromas, dermal eccrine cylindromatosis, familial turban tumors familial cylindromatosis MONDO:0007566 Multiple self-healing squamous epithelioma (also known as Ferguson-Smith disease (FSD)) is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs which usually heal spontaneously after several months leaving pitted scars. Ferguson-Smith disease Ferguson-Smith tumor MSSE familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type multiple keratoacanthoma, Ferguson-Smith type multiple self healing epithelioma of Ferguson-Smith multiple self-healing epithelioma of Ferguson-Smith multiple self-healing squamous epithelioma self-healing squamous epithelioma type 1 ESS1 ESS1 (formerly) ESS1, formerly Ferguson-Smith type epithelioma Ferguson-Smith-type epithelioma multiple self healing squamous epithelioma multiple self-healing squamous epithelioma, susceptibility to multiple self-healing squamous epithelioma https://rarediseases.info.nih.gov/diseases/3090/multiple-self-healing-squamous-epithelioma MONDO:0007568 Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MYH11 gene. MYH11 familial thoracic aortic aneurysm and aortic dissection aortic aneurysm, familial thoracic 4 aortic aneurysm, familial thoracic type 4 familial thoracic aortic aneurysm and aortic dissection caused by mutation in MYH11 AAT4 FAA4 aortic aneurysm/aortic dissection and patent ductus arteriosus aortic aneurysm, familial thoracic 4 https://rarediseases.info.nih.gov/diseases/9876/aortic-aneurysm-familial-thoracic-4 MONDO:0007569 erythema nodosum, familial familial erythema nodosum erythema nodosum, familial https://rarediseases.info.nih.gov/diseases/9259/familial-erythema-nodosum MONDO:0007570 A rare, benign, congenital genetic skin disorder characterized by permanent and asymptomatic erythema of the palmar and, less frequently, the solar surfaces. In most cases, it presents with sharply demarcated redness of the thenar and hypothenar eminences, as well as the palmar aspect of the phalanges, with scattered telangiectasia spots that do not cause any discomfort (pain, itching or burning) to the patient. Red palms disease erythema palmare hereditarium lane disease erythema palmare hereditarium MONDO:0007571 Primary erythermalgia is characterized by intermittent attacks of red, warm, painful burning extremities. It spontaneously arises during early childhood and adolescence in the absence of any detectable underlying disorder. https://github.com/monarch-initiative/mondo/issues/4521 PERYTHM primary erythromelalgia Mitchell disease (formerly) erythermalgia, primary erythromelalgia, familial erythromelalgia, primary neuropathy, small fiber small fiber neuropathy Editor note: consider link to MONDO:0016028 primary erythermalgia MONDO:0007572 Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels. https://github.com/monarch-initiative/mondo/issues/4521 EPOR familial polycythemia PFCP congenital erythrocytosis due to erythropoietin receptor mutation congenital polycythemia due to erythropoietin receptor mutation erythrocytosis, familial, 1 erythrocytosis, familial, type 1 erythrocytosis, somatic familial erythrocytosis familial erythrocytosis 1 familial erythrocytosis type 1 familial erythrocytosis, 1 familial polycythemia caused by mutation in EPOR primary congenital erythrocytosis primary familial and congenital polycythemia ECYT1 autosomal dominant benign erythrocytosis erythrocytosis autosomal dominant benign erythrocytosis, autosomal dominant benign polycythemia, primary familial and congenital primary familial polycythemia Editor note: check relation to familial polycythemia primary familial polycythemia due to EPO receptor mutation https://rarediseases.info.nih.gov/diseases/9843/familial-erythrocytosis-1 MONDO:0007573 An inherited susceptibility or predisposition to developing acute erythroleukemia in which the cause of the disease is a variation in the ERBB3 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 erythroleukemia, familial, susceptibility to hereditary acute erythroid leukemia Di Guglielmo disease, familial ERYTHROLEUKEMIA, familial acute erythroleukemia, familial leukemia, acute myelogenous, M6 erythroleukemia, familial, susceptibility to MONDO:0007574 A subtype of autosomal dominant cerebellar ataxia type I (ADCA type I), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes. SCA34 erythrokeratodermia with ataxia spinocerebellar ataxia and erythrokeratodermia spinocerebellar ataxia type 34 Giroux Barbeau syndrome erythrokeratodermia - ataxia spinocerebellar ataxia 34 spinocerebellar ataxia type 34 MONDO:0007576 A primary or metastatic malignant neoplasm involving the esophagus. https://github.com/monarch-initiative/mondo/issues/4521 cancer of esophagus esophageal cancer esophageal cancer, somatic esophageal carcinoma, somatic esophageal squamous cell carcinoma, somatic esophagus cancer malignant esophageal neoplasm malignant esophageal tumor malignant esophagus neoplasm malignant esophagus tumor malignant neoplasm of esophagus malignant neoplasm of the esophagus malignant tumor of esophagus malignant tumor of the esophagus Ca lower third oesophagus Ca middle third oesophagus malignant neoplasm of distal third of esophagus malignant neoplasm of lower third of oesophagus malignant neoplasm of middle third of oesophagus malignant neoplasm of proximal third of esophagus malignant neoplasm of upper third esophagus malignant tumor of abdominal esophagus malignant tumor of distal third of esophagus malignant tumor of proximal third of esophagus malignant tumor of the middle third of the esophagus Aerodigestive tract cancer, susceptibility to Escc, susceptibility to esophageal squamous cell carcinoma, susceptibility to gastric cardia adenocarcinoma, susceptibility to esophageal cancer MONDO:0007577 esophageal ring, lower esophageal ring, lower MONDO:0007581 exchondrosis of pinna, posterior Ear bump exchondrosis of pinna, posterior MONDO:0007584 Exostoses-anetodermia-brachydactyly type E syndrome is an association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985. exostoses with anetodermia and brachydactyly, type E exostoses-anetodermia-brachydactyly type E syndrome MONDO:0007585 Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene. https://github.com/monarch-initiative/mondo/issues/4948 EXT1 exostoses, multiple exostoses, multiple caused by mutation in EXT1 exostoses, multiple, type 1 EXT diaphyseal Aclasis exostoses, multiple, type I multiple cartilaginous exostoses multiple osteochondromas osteochondromatosis exostoses, multiple, type 1 https://rarediseases.info.nih.gov/diseases/2204/exostoses-multiple-type-1 MONDO:0007586 This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes. EXT2 Gene EXT2 exostoses, multiple exostoses (Multiple) 2 Gene exostoses, multiple caused by mutation in EXT2 exostoses, multiple, type 2 Ext2 exostoses, multiple, type II exostoses, multiple, type 2 https://rarediseases.info.nih.gov/diseases/2205/exostoses-multiple-type-2 MONDO:0007587 Rasmussen-Johnsen-Thomsen syndrome Rasmussen Johnsen Thomsen syndrome Rasmussen syndrome external auditory canal, bilateral atresia of, with congenital vertical talus inherited congenital bilateral atresia of the external auditory canal, congenital bilateral vertical talus and increased interocular distance external auditory canal atresia-vertical talus-hypertelorism syndrome MONDO:0007588 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975. Char-Douglas-Dungan syndrome extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly extrasystoles-short stature-hyperpigmentation-microcephaly syndrome MONDO:0007589 exudative vitreoretinopathy 1 exudative vitreoretinopathy type 1 Criswick-Schepens syndrome EVR1 FEVR, autosomal dominant exudative vitreoretinopathy, familial, autosomal dominant retinopathy of prematurity exudative vitreoretinopathy 1 MONDO:0007590 Hemifacial hyperplasia is a rare morphological anomaly of the maxillofacial region characterized by unilateral overgrowth of all facial structures (bone, soft tissues, teeth), called true hemifacial hypertrophy, or overgrowth of one or more but not all facial structures, called partial hemifacial hypertrophy. It may be isolated or related to some syndromes (e.g. Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright syndrome, Neurofibromatosis type 1). It may be associated with airway obstruction, sensorineural hearing loss or swallowing difficulties. hemifacial hypertrophy facial asymmetry facial hemihypertrophy hemifacial hyperplasia hemifacial hypertrophy MONDO:0007592 familial recurrent Bell palsy facial palsy, familial recurrent peripheral familial recurrent peripheral facial palsy MONDO:0007593 facial spasm facial spasm MONDO:0007594 Proaccelerin Excess factor V excess with spontaneous thrombosis thrombophilia with elevated Factor 5 factor 5 excess with spontaneous thrombosis MONDO:0007595 factor VII and Factor VIII, combined deficiency of factor 7 and Factor VIII, combined deficiency of familial multiple coagulation Factor deficiency 4 multiple coagulation Factor deficiency 4 factor VII and Factor VIII, combined deficiency of MONDO:0007597 factor VIII and Factor IX, combined deficiency of F8F9D factor 8 and Factor IX, combined deficiency of factor VIII and factor IX, combined deficiency OF familial multiple coagulation Factor deficiency 2 factor VIII and Factor IX, combined deficiency of MONDO:0007598 factors VIII, IX and XI, combined deficiency of factors VIII, 9 and Xi, combined deficiency of familial multiple coagulation Factor deficiency 5 multiple coagulation Factor deficiency 5 factors VIII, IX and XI, combined deficiency of MONDO:0007599 factor IX and factor XI, combined deficiency OF familial multiple coagulation Factor deficiency 6 multiple coagulation Factor deficiency 6 factor 9 and Factor XI, combined deficiency of MONDO:0007600 A condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones. https://github.com/monarch-initiative/mondo/issues/3113 FRTS1 Fanconi renotubular syndrome 1 primary Fanconi renotubular syndrome primary Fanconi syndrome https://rarediseases.info.nih.gov/diseases/9118/primary-fanconi-syndrome MONDO:0007601 https://github.com/monarch-initiative/mondo/issues/4521 familial Mediterranean fever, AD familial Mediterranean fever, autosomal dominant Fmf, autosomal dominant familial Mediterranean fever, autosomal dominant MONDO:0007603 Felty syndrome (FS), also known as ''super rheumatoid'' disease, is a severe form of rheumatoid arthritis (RA), characterized by a triad of RA, splenomegaly and neutropenia, resulting in susceptibility to bacterial infections. Felty syndrome Felty's syndrome rheumatoid arthritis with splenoadenomegaly and leukopenia splenomegaly-neutropenia-rheumatoid arthritis syndrome familial Felty's syndrome rheumatoid arthritis, splenomegaly and neutropenia Felty syndrome https://rarediseases.info.nih.gov/diseases/8234/feltys-syndrome MONDO:0007604 Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies. https://github.com/monarch-initiative/mondo/issues/4948 FFS FHUFS femoral hypoplasia-unusual facies syndrome femoral-facial syndrome femoral dysgenesis, bilateral femoral facial syndrome femoral hypoplasia unusual facies syndrome femoral-facial syndrome https://rarediseases.info.nih.gov/diseases/61/femoral-facial-syndrome MONDO:0007605 fibrinolytic defect fibrinolytic defect MONDO:0007606 Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites. https://github.com/monarch-initiative/mondo/issues/4948 Stone Man syndrome Stone man syndrome fibrodysplasia ossificans progressiva fop progressive myositis ossificans progressive ossifying myositis myositis ossificans progressiva fibrodysplasia ossificans progressiva MONDO:0007607 Birt-Hogg-Dube (BHD) syndrome is characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. It is a rare clinicopathologic condition named after the three Canadian physicians who reported the syndrome in 1977. Birt-Hogg-Dube syndrome fibrofolliculomas with trichodiscomas and acrochordons BHD BHD syndrome Birt Hogg Dube syndrome Birt-Hogg-Dubé syndrome Hornstein-Knickenberg syndrome Birt-Hogg-Dube syndrome MONDO:0007608 A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential. aggressive fibromatosis deep fibromatosis deep fibromatosis/desmoid tumor desmoid fibromatosis desmoid tumor desmoid type fibromatosis desmoid-type fibromatosis FIF desmoid disease, hereditary desmoid disorder, hereditary desmoid/aggressive fibromatosis familial infiltrative fibromatosis fibromatosis, familial infiltrative desmoid tumor MONDO:0007609 Any gingival fibromatosis in which the cause of the disease is a mutation in the SOS1 gene. SOS1 gingival fibromatosis SOS1 hereditary gingival fibromatosis fibromatosis, gingival, 1 fibromatosis, gingival, type 1 gingival fibromatosis caused by mutation in SOS1 hereditary gingival fibromatosis caused by mutation in SOS1 GGF1 GINGF GINGF1 HGF1 fibromatosis gingival, hereditary, 1 fibromatosis, gingival, hereditary gingival fibromatosis, 1 hereditary gingival fibromatosis, 1 fibromatosis, gingival, 1 https://rarediseases.info.nih.gov/diseases/6509/gingival-fibromatosis-1 MONDO:0007610 Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback. https://github.com/monarch-initiative/mondo/issues/4521 CGHT congenital generalized hypertrichosis terminalis hirsutism-congenital gingival hyperplasia syndrome hypertrichosis with or without gingival hyperplasia hypertrichosis, congenital generalized, with gingival hyperplasia HTC3 chromosome 17Q24.2-q24.3 Duplication syndrome chromosome 17Q24.2-q24.3 deletion syndrome extreme hirsutism with gingival fibromatosis fibromatosis, gingival, with hypertrichosis gingival fibromatosis with hypertrichosis hereditary gingival fibromatosis with hypertrichosis hypertrichosis terminalis, generalized, with gingival hyperplasia hypertrichosis terminalis, generalized, with or without gingival hyperplasia hypertrichosis, congenital generalized, with or without gingival hyperplasia microdeletion 17Q24.2-q24.3 syndrome microduplication 17Q24.2-q24.3 syndrome gingival fibromatosis-hypertrichosis syndrome https://rarediseases.info.nih.gov/diseases/2324/gingival-fibromatosis-with-hypertrichosis MONDO:0007612 Gingival fibromatosis-progressive deafness syndrome is characterized by gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families, and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait. Jones syndrome GFD familial gingival fibromatosis associated with progressive deafness fibromatosis, gingival, with progressive deafness gingival fibromatosis with progressive deafness gingival fibromatosis with sensorineural hearing loss gingival fibromatosis-progressive deafness syndrome MONDO:0007614 FEOM congenital fibrosis of the extraocular muscles fibrosis of extraocular muscles, congenital fibrosis of extraocular muscles, congenital, type 1 Tukel syndrome CFEOM1 Feom1 locus blepharoptosis with absent eye movements fibrosis of extraocular muscles, congenital, 1 fibrosis of extraocular muscles, congenital, 3B ophthalmoplegia, congenital congenital fibrosis of extraocular muscles MONDO:0007615 Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested. https://github.com/monarch-initiative/mondo/issues/4948 Sandrow syndrome laurin-Sandrow syndrome mirror hands and feets-nasal defects syndrome LSS fibula and ulna, Duplication of, with absence of tibia and radius fibula ulna duplication tibia radius absence laurin Sandrow syndrome laurin-Sandrow syndrome, segmental mirror hands and feet with nasal defects mirror-Image polydactyly tetramelic mirror-Image polydactyly laurin-Sandrow syndrome https://rarediseases.info.nih.gov/diseases/155/laurin-sandrow-syndrome MONDO:0007616 fibula, recurrent dislocation of head of fibula, recurrent dislocation of head of MONDO:0007617 Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1B gene. https://github.com/monarch-initiative/mondo/issues/3939 https://github.com/monarch-initiative/mondo/issues/4948 fifth digit syndrome ARID1B-related BAFopathy COFFIN-SIRIS syndrome 1 CSS1 Coffin-Siris syndrome 1 MRD12 autosomal dominant mental retardation 12 hypertrichosis, hyperkeratosis, intellectual disability, and distinctive facial features hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features intellectual disability, autosomal dominant 12 mental retardation, autosomal dominant type 12 COFFIN-SIRIS syndrome CSS mental retardation, autosomal dominant 12 Coffin-Siris syndrome 1 https://rarediseases.info.nih.gov/diseases/9945/hypertrichosis-hyperkeratosis-mental-retardation-and-distinctive-facial-features MONDO:0007618 Eng-Strom syndrome is characterised by intrauterine growth retardation and intermittent locking of the finger joints. It has been described in two individuals: a mother and her daughter. The mode of transmission is autosomal dominant. short stature-locking fingers syndrome finger locking, recurrent, with intrauterine growth retardation and proportionate short stature Eng-Strom syndrome MONDO:0007619 Isolated congenital adermatoglyphia is a rare, genetic develomental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles. https://github.com/monarch-initiative/mondo/issues/4521 ADG absence of fingerprints adermatoglyphia fingerprints, absence of ADERM congenital absence of fingerprints immigration delay disease isolated congenital adermatoglyphia isolated congenital adermatoglyphia MONDO:0007620 Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency. fed fish eye disease partial LCAT deficiency LCATA deficiency alpha-LCAT deficiency alpha-lecithin cholesterol acyltransferase deficiency alpha-lecithin:cholesterol acyltransferase deficiency dyslipoproteinemic corneal dystrophy fish-eye disease fish eye disease https://rarediseases.info.nih.gov/diseases/6450/fish-eye-disease MONDO:0007621 Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay. https://github.com/monarch-initiative/mondo/issues/5588 floating-Harbor syndrome FHS FLHS Pelletier-Leisti syndrome floating-HARBOR syndrome short stature with delayed bone age, expressive language delay, a triangular face with a prominent nose and deep-set eyes Floating-Harbor syndrome https://rarediseases.info.nih.gov/diseases/6455/floating-harbor-syndrome MONDO:0007623 flushing of ears and somnolence flushing of ears and somnolence MONDO:0007624 Flynn-Aird syndrome is a neuroectodermal disorder involving the nervous, cutaneous, skeletal, and glandular systems. It has been described in 10 members from five generations of one family. Clinical manifestations include eye abnormalities (cataracts, retinitis pigmentosa, and myopia), sensorineural deafness, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy and striking dental caries. Patients also present with muscle wasting, joint stiffness and bone cysts. Flynn-Aird syndrome is transmitted as an autosomal dominant trait. It shows some similarities to the syndromes of Werner, Refsum and Cockayne. Flynn-Aird syndrome Flynn Aird syndrome cataracts, retinitis pigmentosa, sensorineural hearing loss, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy, chronic ulceration, dental Flynn-Aird syndrome https://rarediseases.info.nih.gov/diseases/2347/flynn-aird-syndrome MONDO:0007625 focal epithelial hyperplasia of the oral mucosa focal epithelial hyperplasia of the oral mucosa MONDO:0007626 An instance of fourth cranial nerve palsy that is caused by an inherited modification of the individual's genome. https://github.com/monarch-initiative/mondo/issues/4069 hereditary fourth cranial nerve palsy fourth cranial nerve palsy, familial congenital strabismus from Superior oblique palsy superior oblique oculomotor palsy, familial congenital trochlear nerve palsy, familial congenital familial congenital palsy of trochlear nerve https://rarediseases.info.nih.gov/diseases/10355/familial-congenital-palsy-of-trochlear-nerve MONDO:0007627 Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD) characterized by congenital bitemporal cutis aplasia. Brauer syndrome FFDD type I FFDD1 bitemporal aplasia cutis congenita focal facial dermal dysplasia 1, Brauer type focal facial dermal dysplasia type 1 FFDD, type 1 hereditary symmetrical aplastic nevi of temples focal facial dermal dysplasia type I MONDO:0007628 Any foveal hypoplasia in which the cause of the disease is a mutation in the PAX6 gene. PAX6 foveal hypoplasia foveal hypoplasia 1 foveal hypoplasia caused by mutation in PAX6 foveal hypoplasia type 1 FVH1 O Donnell Pappas syndrome foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract foveal hypoplasia, congenital nystagmus, corneal pannus, and presenile cataracts foveal hypoplasia, presenile cataract foveal hypoplasia 1 MONDO:0007629 fragile site 10Q23 fragile site type 10Q23 fragile site 10Q23 MONDO:0007630 North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination. https://github.com/monarch-initiative/mondo/issues/4521 CAPE dystrophy MCDR1 NCMD North Carolina macular dystrophy North Carolina macular dystrophy, retinal 1 caped central areolar pigment epithelial dystrophy central retinal pigment epithelial dystrophy macular dystrophy 1, North Carolina type progressive foveal dystrophy foveal dystrophy progressive foveal dystrophy, progressive foveal dystrophy, progressive, formerly macular dystrophy retinal 1 North Carolina type macular dystrophy, retinal, 1, NORTH Carolina type retinal pigment epithelial dystrophy central retinal pigment epithelial dystrophy, central OMIM has the gene DHS6S1 associated with this disease, but this gene does not exist in HGNC. In NCBI gene, it says this DHS6S1 was replaced by LOC111365204 (NCBIgene:111365204), but this gene also does not exist in HGNC. North Carolina macular dystrophy https://rarediseases.info.nih.gov/diseases/9179/north-carolina-macular-dystrophy MONDO:0007631 A condition caused by a 520 kb deletion at 16p12.1. It is characterized by developmental delay, craniofacial dysmorphology and congenital heart defects. https://github.com/monarch-initiative/mondo/issues/3664 Recurrent 16p12.1 microdeletion (neurodevelopmental susceptibility locus) chromosome 16p12.1 deletion syndrome chromosome 16p12.1 deletion syndrome, type 520kb chromosome 16p12.1 deletion syndrome, 520-KB fragile site 16P12 fragile site, Distamycin a type, Rare, fra(16)(p12.1) chromosome 16p12.1 deletion syndrome, 520kb MONDO:0007633 Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness MONDO:0007634 intellectual disability, FRA12A type mental retardation, FRA12A type intellectual disability, FRA12A type MONDO:0007635 Frasier syndrome is characterised by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma. https://github.com/monarch-initiative/mondo/issues/4521 Frasier syndrome Frasier syndrome, autosomal dominant, somatic mutation Frasier syndrome https://rarediseases.info.nih.gov/diseases/2375/frasier-syndrome MONDO:0007636 Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed. https://github.com/monarch-initiative/mondo/issues/4948 ALX3-related frontonasal dysplasia frontonasal dysplasia type 1 frontorhiny isolated median cleft face syndrome FND1 frontonasal dysplasia frontonasal dysplasia 1 frontonasal malformation isolated median cleft syndrome median Facial cleft syndrome frontorhiny MONDO:0007637 Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the COL8A2 gene. COL8A2 Fuchs' endothelial dystrophy Fuchs' endothelial dystrophy caused by mutation in COL8A2 corneal dystrophy, Fuchs endothelial, 1 corneal dystrophy, Fuchs endothelial, type 1 FECD1 corneal dystrophy, Fuchs endothelial, early-onset corneal dystrophy, Fuchs endothelial, 1 MONDO:0007638 fucosidase regulator Alpha-L-fucosidase regulator fucosidase regulator MONDO:0007639 Fundus albipunctatus is a rare, genetic retinal dystrophy characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age. retinitis punctata albescens fundus albipunctatus pigmentary retinal dystrophy fundus albipunctatus MONDO:0007640 A rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness. SFD Sorsby fundus dystrophy Sorsby's fundus dystrophy hemorrhagic macular dystrophy pseudoinflammatory fundus dystrophy of Sorsby Sorsby pseudoinflammatory fundus dystrophy Sorsby's pseudoinflammatory macular dystrophy fundus dystrophy, pseudoinflammatory, of Sorsby macular dystrophy, hemorrhagic Sorsby fundus dystrophy MONDO:0007642 gallbladder, agenesis OF isolated agenesis of gallbladder MONDO:0007643 IgA, defect in Assembly of Immunoglobulin A, defect in Assembly of gamma-A-globulin, defect in ASSEMBLY OF gamma-A-globulin, defect in assembly of MONDO:0007644 Decreased or absent levels of serum immunoglobulin A, with normal serum levels of immunoglobulin G and immunoglobulin M in a patient who is older than 4 years of age and in whom all other causes of hypogammaglobulinemia have been excluded. Affected individuals may be asymptomatic or have frequent infections, allergic reactions, or autoimmune disorders. https://github.com/monarch-initiative/mondo/issues/4521 IgAD1 immunoglobulin A deficiency, autosomal recessive, autosomal dominant, isolated cases IMMUNOGLOBULIN A deficiency 1 IgA, selective deficiency of Immunoglobulin A, selective deficiency of gamma-A-globulin, selective deficiency of IgAD1 MONDO:0007646 A rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment. ARAN-NM ARCMT2-NM Gamstorp-Wohlfart syndrome autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia autosomal recessive neuromyotonia and axonal neuropathy myokymia, myotonia and muscle wasting NMAN autosomal recessive axonal neuropathy with neuromyotonia myokymia, myotonia, and muscle wasting neuromyotonia and axonal neuropathy, autosomal recessive Gamstorp-Wohlfart syndrome MONDO:0007647 gastric volvulus, intrathoracic gastric volvulus, intrathoracic MONDO:0007648 An autosomal dominant inherited adenocarcinoma that arises from the gastric mucosa and is characterized by the presence of poorly cohesive malignant cells and absence of glandular formations. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5720 FDGC HDGC familial diffuse cancer of stomach familial diffuse gastric cancer hereditary diffuse cancer of stomach hereditary diffuse gastric adenocarcinoma hereditary diffuse gastric cancer diffuse gastric cancer signet cell adenocarcinoma signet ring cell gastric carcinoma signet ring gastric carcinoma hereditary diffuse gastric adenocarcinoma https://rarediseases.info.nih.gov/diseases/10334/diffuse-gastric-cancer https://rarediseases.info.nih.gov/diseases/10900/hereditary-diffuse-gastric-cancer MONDO:0007649 https://github.com/monarch-initiative/mondo/issues/5850 2023-04-01 gastric juice peptides Reason of obsoletion: out of scope - MONDO:excludeNonDisease. Term to consider: none. gastric juice peptides MONDO:0007650 An indolent, extranodal type of non-Hodgkin lymphoma composed of small B-lymphocytes (centrocyte-like cells). The gastrointestinal tract is the most common site of involvement. Other common sites of involvement include lung, head and neck, ocular adnexae, skin, thyroid, and breast. Gastric involvement is associated with the presence of H. pylori infection. (WHO, 2001) https://github.com/monarch-initiative/mondo/issues/4521 Extranodal marginal zone B-cell lymphoma Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT-lymphoma) Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue Immunocytoma MALT lymphoma MALT-lymphoma MALToma lymphoma of mucosa-associated lymphoid tissue lymphoma, MALT, somatic mucosa-associated lymphatic tissue lymphoma mucosa-associated lymphoid tissue lymphoma extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma) familial primary gastric lymphoma gastric lymphoma, primary lymphoma, mucosa-associated lymphoid type MALT lymphoma MONDO:0007651 gastrocutaneous syndrome peptic Ulcer/hiatal hernia, multiple lentigines/cafe-Au-lait Spots, hypertelorism, myopia gastrocutaneous syndrome https://rarediseases.info.nih.gov/diseases/2438/gastrocutaneous-syndrome MONDO:0007652 MC)nC)trier disease (MD) is a rare premalignant hyperproliferative gastropathy characterized by massive overgrowth of foveolar cells in the gastric lining, resulting in large gastric folds, and manifesting with epigastric pain, nausea, vomiting, peripheral edema and, less commonly, anorexia and weight loss. MENETRIER disease Menetrier's disease Ménétrier disease familial giant hypertrophic gastritis giant hypertrophic gastritis giant rugal hypertrophy of stomach hypertrophic gastritis hypertrophic gastropathy hypoproteinemic hypertrophic gastropathy Gastroenteropathy, protein losing Menetrier disease gastritis, familial giant hypertrophic giant hypertrophic gastropathy giant hypertrophy of the gastric mucosa gastric mucosal hypertrophy MONDO:0007653 https://github.com/monarch-initiative/mondo/issues/4948 genochondromatosis genochondromatosis https://rarediseases.info.nih.gov/diseases/10621/genochondromatosis MONDO:0007654 genu valgum, st. Helena familial St. Helena familial genu valgum genu valgum, hereditary pubertal genu valgum, st Helena familial hereditary pubertal genu valgum severe 'knock-knees' and variable lesser malalignment at the elbows and wrists genu valgum, st. Helena familial https://rarediseases.info.nih.gov/diseases/8429/genu-valgum-st-helena-familial MONDO:0007655 Furrowed tongue fissure of tongue geographic tongue and fissured tongue lingua plicata plicated tongue scrotal tongue tongue, fissured congenital fissure of tongue congenital plicated tongue fissure of tongue, congenital ectopic geographic tongue erythema migrans geographic and fissured tongue glossitis, benign migratory fissured tongue MONDO:0007656 A very rare and fatal disorder of spongiform encephalopathy usually caused by mutations of the prion protein (PRNP) gene. It is characterized by the accumulation of amyloid in the brain. Signs and symptoms include lack of motor coordination, unsteady gait, and difficulty walking. As the disease progresses, patients develop speech difficulties and dementia. Gerstmann-Straussler-Scheinker disease prion dementia subacute spongiform encephalopathy, Gerstmann-Straussler type GSD Gerstmann Straussler Scheinker syndrome Gerstmann-Straussler disease amyloidosis cerebral with spongiform encephalopathy amyloidosis, cerebral, with spongiform encephalopathy cerebellar ataxia, progressive dementia, and amyloid deposits in CNS cerebellar ataxia, progressive dementia, and amyloid deposits in the central nervous system cerebral amyloid angiopathy, Prnp-related encephalopathy subacute spongiform Gerstmann-Straussler type encephalopathy, Subacute spongiform, Gerstmann-Straussler type Editor note: MESH considers as two diseases Gerstmann-Straussler-Scheinker syndrome MONDO:0007657 giant neutrophil leukocytes giant neutrophil leukocytes MONDO:0007660 An instance of ossifying fibroma (disease) that is caused by an inherited modification of the individual's genome. hereditary ossifying fibroma (disease) multiple ossifying fibroma Cementomas, familial multiple GIGANTIFORM cementoma, familial Jaffe-Campanacci syndrome cemental dysplasia, periapical intracortical fibrous dysplasia familial ossifying fibroma MONDO:0007661 A neurologic disorder caused by defective metabolism of the neurotransmitters in the brain. It is characterized by repeated involuntary movements (motor tics) and uncontrollable vocal sounds (vocal tics). The symptoms are usually manifested before the age of eighteen. https://github.com/monarch-initiative/mondo/issues/4521 Guinon's disease Tourette disease Tourette syndrome Tourette's syndrome motor-verbal tic disorder psychogenic tics GTS Gilles De 50A Tourette syndrome Gilles de la Tourette syndrome Tourette disorder chronic motor tics Tourette syndrome MONDO:0007662 Any iridogoniodysgenesis in which the cause of the disease is a mutation in the PITX2 gene. iridogoniodysgenesis syndrome IRID2 PITX2 iridogoniodysgenesis anterior segment dysgenesis 4 iridogoniodysgenesis caused by mutation in PITX2 iridogoniodysgenesis, type 2 ASGD4 iridogoniodysgenesis type 2 iris hypoplasia with early-onset glaucoma, autosomal dominant anterior segment dysgenesis 4 MONDO:0007663 glaucoma with elevated episcleral venous pressure glaucoma with elevated episcleral venous pressure MONDO:0007664 Any juvenile glaucoma in which the cause of the disease is a mutation in the MYOC gene. https://github.com/monarch-initiative/mondo/issues/4521 JOAG1 JOAG1A MYOC juvenile glaucoma MYOC juvenile open angle glaucoma glaucoma 1, open angle, A glaucoma 1, open angle, type A glaucoma 1A, primary open angle juvenile glaucoma caused by mutation in MYOC juvenile open angle glaucoma caused by mutation in MYOC GLC1A glaucoma 1, open angle, 50 glaucoma hereditary, juvenile glaucoma, primary open angle, juvenile-onset, 1 primary open angle glaucoma juvenile onset 1 glaucoma 1, open angle, A MONDO:0007666 Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children). glaucoma and sleep apnea glaucoma sleep apnea glaucoma-sleep apnea syndrome https://rarediseases.info.nih.gov/diseases/2483/glaucoma-sleep-apnea MONDO:0007667 Subependymoma is a rare and slow growing type of ependymoma, often presenting in middle-aged adults, found more commonly in men than in women, usually located in the fourth and lateral ventricles and manifesting with variable symptoms including headache, nausea, and loss of balance. In some cases it can be asymptomatic. It is usually associated with a better prognosis than other forms of ependymoma. SUBEPENDYMOMA, benign WHO grade I ependymal neoplasm WHO grade I ependymal tumor mixed subependymoma-ependymoma subependymal astrocytoma subependymal glioma subependymoma subependymal astrocytoma (formerly) subependymoma MONDO:0007668 globulin anomaly involving beta (2A)-globulin globulin anomaly involving beta (2A)-globulin MONDO:0007669 Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome. CAKUT with diabetes HNF1B-MODY HNF1B-related renal cysts and diabetes syndrome MODY5 RCAD RCAD syndrome atypical FJHN atypical familial juvenile hyperuricemic nephropathy congenital anomalies of the kidney and urinary tract with diabetes familial hypoplastic glomerulocystic kidney hepatocyte nuclear Factor 1-beta-associated monogenic diabetes hypoplastic type glomerulocystic kidney disease maturity onset diabetes of the Young, type 5 renal cysts and diabetes syndrome renal cysts-maturity-onset diabetes of the young syndrome renal dysfunction-early-onset diabetes syndrome FJHN atypical FJHN, atypical MODY type 5 glomerulocystic kidney disease, hypoplastic type glomerulocystic kidney, familial hypoplastic hyperuricemic nephropathy, familial juvenile, atypical maturity-onset diabetes of the Young, type 5 maturity-onset diabetes of the young type 5 renal cysts and diabetes syndrome https://rarediseases.info.nih.gov/diseases/10221/maturity-onset-diabetes-of-the-young-type-5 MONDO:0007670 Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. hypotrichosis lymphedema telangiectasia syndrome hypotrichosis-lymphedema-telangiectasia syndrome (grouping) MONDO:0007671 A hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life. GFND fibronectin glomerulopathy glomerulopathy with fibronectin deposits GFND1 GFND2 glomerular nephritis, familial, with fibronectin deposits glomerulopathy with fibronectin deposits 1 glomerulopathy with fibronectin deposits 2 glomerulopathy with giant fibrillar deposits lobular glomerulopathy, familial Editor note: consider splitting out type 1, and also separate class for giant subtype fibronectin glomerulopathy https://rarediseases.info.nih.gov/diseases/9268/glomerulopathy-with-fibronectin-deposits-1 MONDO:0007672 Glomuvenous malformations (GVMs) are hereditary vascular malformations characterized by the presence of small, multifocal bluish-purple venous lesions involving the skin. VMGLOM Venous malformations with glomus cells familial glomangioma glomuvenous malformation hereditary glomangioma hereditary multiple glomangiomas multiple glomus tumors GLOMUVENOUS malformations GVM glomangiomas, multiple glomangiomatosis glomus tumors, multiple glomuvenous malformation MONDO:0007673 Glucoglycinuria Glucoglycinuria MONDO:0007674 glucose-6-phosphate dehydrogenase-like G6PDL glucose-6-phosphate dehydrogenase-like MONDO:0007675 glutamic acid decarboxylase, brain, membrane form glutamic acid decarboxylase, brain, membrane form MONDO:0007676 glutathione transferase activity toward trans-stilbene oxide trans-stilbene oxide glutathione transferase activity glutathione transferase activity toward trans-stilbene oxide MONDO:0007677 hyperglycinuria (disease) hyperglycinuria hyperglycinuria (disease) Iminoglycinuria type 2 glycinuria with or without oxalate nephrolithiasis glycinuria with or without oxalate urolithiasis hyperglycinuria MONDO:0007679 GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992. https://github.com/monarch-initiative/mondo/issues/5588 GMS syndrome Goniodysgenesis-intellectual disability-short stature syndrome Goniodysgenesis--intellectual disability--short stature syndrome Goniodysgenesis--mental retardation--short stature syndrome GMS syndrome https://rarediseases.info.nih.gov/diseases/2523/gms-syndrome MONDO:0007680 Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies. Daneman-Davy-Mancer syndrome thyroid-renal-digital anomalies Daneman Davy Mancer syndrome MNG/CRD/Da goiter, multinodular, cystic renal disease, and digital anomalies multinodular goiter - cystic kidney - polydactyly multinodular goiter, cystic renal disease, and digital anomalies multinodular goiter/cystic renal disease/digital anomalies multinodular goiter-cystic kidney-polydactyly syndrome MONDO:0007681 Any multinodular goiter in which the cause of the disease is a mutation in the DICER1 gene. euthyroid goiter simple goiter FMNG MNG1 familial MNG goiter, multinodular 1, with or without Sertoli-Leydig cell tumors goiter, nontoxic, with Intrathyroidal calcification multinodular goiter, adolescent goiter, multinodular 1, with or without Sertoli-Leydig cell tumors MONDO:0007682 granddad syndrome Growth retardation, aged facies, normal development, decreased subcutaneous fat, autosomal dominant inheritance granddad syndrome MONDO:0007683 Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986. Grant syndrome persistent wormian bones, blue sclerae, mandibular hypoplasia, shallow glenoid fossae and campomelia Grant syndrome https://rarediseases.info.nih.gov/diseases/2559/grant-syndrome MONDO:0007685 granulosis rubra nasi granulosis rubra nasi MONDO:0007686 Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear. Alpha storage pool deficiency BDPLT4 GPS gray platelet syndrome grey platelet syndrome platelet alpha-granule deficiency platelet-type bleeding disorder 4 bleeding disorder, Platelet-type, 4 marked decrease or absence of alpha-granules and of platelet-specific alpha-granule proteins gray platelet syndrome https://rarediseases.info.nih.gov/diseases/2562/gray-platelet-syndrome MONDO:0007687 graying of hair, precocious White hair, premature graying of hair, precocious MONDO:0007688 Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients. https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5588 Myhre syndrome facial dysmorphism-intellectual disability-short stature-hearing loss syndrome Growth mental deficiency syndrome of Myhre Growth-mental deficiency syndrome of Myhre LAPS syndrome MYHRE syndrome MYHRS facial dysmorphism - intellectual deficit - short stature - hearing loss laryngotracheal stenosis, arthropathy, prognathism, and short stature Myhre syndrome https://rarediseases.info.nih.gov/diseases/2572/myhre-syndrome MONDO:0007689 guanylate kinase 3 guanylate kinase type 3 GUK3 guanylate KINASE 3 guanylate kinase 3 MONDO:0007690 Aromatase excess syndrome is a rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all. AEXS aromatase excess syndrome familial hyperestrogenism gynecomastia, familial, due to increased aromatase activity gynecomastia, hereditary hereditary prepubertal gynecomastia increased aromatase activity aromatase activity, increased aromatase excess syndrome https://rarediseases.info.nih.gov/diseases/12494/aromatase-excess-syndrome MONDO:0007691 A form of Guillain-Barre syndrome (GBS) that occurs in persons or families with a genetic predisposition to the acute or chronic forms of GBS. Note that GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors, and families with clear Mendelian inheritance have been rarely reported: a mutation in the PMP22 gene (601097) on chromosome 17 was identified in a single family with the acute (AIDP) and chronic (CIDP) forms of inflammatory demyelinating polyneuropathy. https://github.com/monarch-initiative/mondo/issues/3467 https://github.com/monarch-initiative/mondo/issues/4521 AIDP Guillain-Barre syndrome, familial neuropathy, inflammatory demyelinating polyneuropathy, inflammatory demyelinating, acute GBS Guillain-Barre syndrome, familial MONDO:0007693 Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated. MacDermot-Patton-Williams syndrome hairy elbows hairy elbows syndrome hypertrichosis cubiti hypertrichosis cubiti-short stature syndrome MONDO:0007694 hairy nose tip HNT hairy nose tip https://rarediseases.info.nih.gov/diseases/8465/hairy-nose-tip MONDO:0007695 hairy palms and soles circumscribed hairy Dysembryoplasia of palms hairy cutaneous malformations of palms and soles thickened hair-bearing skin on the palms of both hands hairy palms and soles https://rarediseases.info.nih.gov/diseases/8461/hairy-palms-and-soles MONDO:0007696 hand and foot deformity-flat facies syndrome familial syndrome of short stature, deformities of the hands and feet, and unusual facies hand and foot deformity - flat facies hand and foot deformity with flat facies Emery-Nelson syndrome MONDO:0007697 hand clasping pattern hand clasping pattern MONDO:0007698 Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects. https://github.com/monarch-initiative/mondo/issues/4948 HFGS hand-foot-genital syndrome hand-foot-uterus syndrome HFG HFG syndrome HFU syndrome hand foot genital syndrome hand foot uterus syndrome hand-foot-genital syndrome MONDO:0007699 An autoimmune disorder caused by the production of autoantibodies against thyroid tissue. There is progressive destruction of the thyroid follicles leading to hypothyroidism. Hashimoto disease Hashimoto hypothyroidism Hashimoto thyroiditis Hashimoto's disease Hashimoto's syndrome Hashimoto's thyroiditis chronic lymphocytic thyroiditis lymphocytic thyroiditis HT Hashimoto struma Hashimoto syndrome Hashimoto thyroiditides Hashimoto's struma Hashimoto's syndromes Hashimotos disease Hashimotos syndrome Ht autoimmune thyroiditis chronic lymphocytic thyroiditides disease, Hashimoto disease, Hashimoto's hypothyroidism, autoimmune hypothyroidism, autoimmune thyroid autoantibodies, included lymphocytic thyroiditides, chronic lymphocytic thyroiditis, chronic syndrome, Hashimoto's syndromes, Hashimoto's thyroid autoantibodies thyroiditides, Hashimoto thyroiditides, chronic lymphocytic thyroiditis, Hashimoto thyroiditis, chronic lymphocytic Hashimoto thyroiditis MONDO:0007700 Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine. https://github.com/monarch-initiative/mondo/issues/4985 4-HPPD deficiency 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency 4-hydroxyphenylpyruvic acid dioxygenase deficiency hawkinsinuria hawkinsinuria https://rarediseases.info.nih.gov/diseases/5668/hawkinsinuria MONDO:0007701 PFHB2 PFHBII heart block progressive familial type 2 progressive familial heart block type 2 progressive familial heart block, type II progressive familial heart block type II https://rarediseases.info.nih.gov/diseases/4879/progressive-familial-heart-block-type-2 MONDO:0007702 Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle. Cardiomelic syndrome type 3 atriodigital dysplasia type 3 heart-hand syndrome, Spanish type heart-limb syndrome type 3 brachydactyly and intraventricular conduction defect upper limb malformations and congenital cardiac anomalies heart-hand syndrome type 3 MONDO:0007704 MATN3 osteoarthritis osteoarthritis caused by mutation in MATN3 osteoarthritis susceptibility 2 osteoarthritis susceptibility type 2 Dipoa Heberden nodes OADIP OS2 hand osteoarthritis osteoarthritis of distal interphalangeal joints osteoarthritis susceptibility 2 MONDO:0007705 https://github.com/monarch-initiative/mondo/issues/4521 Heinz body anemias, alpha- Heinz body anemias Heinz body anemia MONDO:0007706 hemangiomas cavernous of face supraumbilical midline raphe hemangiomas, cavernous, of face and supraumbilical MIDLINE raphe raphe, supraumbilical Midline, with cavernous Facial hemangiomas sternal nonunion with supraumbilical raphe supraumbilical midabdominal raphe and facial cavernous hemangiomas cavernous hemangiomas of face-supraumbilical midline raphe syndrome MONDO:0007707 A hemangioma that involves the small intestine. hemangioma of small intestine hemangiomas of small intestine small intestine hemangioma hemangiomas of small intestine MONDO:0007708 Kasabach-Merritt syndrome (KMS), also known as hemangioma-thrombocytopenia syndrome, is a rare disorder characterized by profound thrombocytopenia, microangiopathic hemolytic anemia, and subsequent consumptive coagulopathy in association with vascular tumors, particularly kaposiform hemangioendothelioma or tufted angioma. Kasabach-Merritt syndrome hemangioma-hemorrhage syndrome hemangioma-thrombocytopenia syndrome hemangiomatosis with thrombocytopenia thrombocytopenia-hemangioma syndrome thrombopenia-hemangioma syndrome KMP Kasabach Merritt phenomenon Kasabach Merritt syndrome hemangioma thrombocytopenia syndrome Kasabach-Merritt syndrome MONDO:0007709 https://github.com/monarch-initiative/mondo/issues/4521 hematuria, benign familial hematuria, familial benign BFH thin membrane nephropathy thin-basement-membrane nephropathy hematuria, benign familial MONDO:0007710 Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved. Romberg syndrome hemifacial atrophy parry-Romberg syndrome progressive facial hemiatrophy progressive hemifacial atrophy HFA PHA Romberg hemi-facial atrophy hemifacial atrophy, progressive facial hemiatrophy MONDO:0007711 Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979. Bencze syndrome hemifacial hyperplasia-strabismus syndrome hemifacial hyperplasia strabismus hemifacial hyperplasia with strabismus Bencze syndrome https://rarediseases.info.nih.gov/diseases/2633/hemifacial-hyperplasia-strabismus MONDO:0007712 Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported. Moeschler-Clarren syndrome hemifacial microsomia-radial defects syndrome Goldenhar syndrome with ipsilateral radial defect Moeschler Clarren syndrome Oavs with radial defect hemifacial microsomia with radial defects microsomia hemifacial radial defects oculoauriculovertebral spectrum with radial defect oculoauriculovertebral spectrum with radial defects MONDO:0007713 facial hemispasm focal myoclonus of face hemifacial spasm hemifacial spasm, familial clonic hemifacial spasm MONDO:0007715 hemolytic poikilocytic anemia due to reduced ankyrin binding sites hemolytic poikilocytic anemia due to reduced ankyrin binding sites MONDO:0007716 Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities. https://github.com/monarch-initiative/mondo/issues/5588 ATR syndrome linked to chromosome 16 ATR syndrome, deletion type ATR-16 syndrome Alpha thalassemia-intellectual disability syndrome Alpha thalassemia-intellectual disability syndrome, deletion type Alpha thalassemia-mental retardation syndrome Alpha-thalassemia-intellectual disability syndrome linked to chromosome type 16 alpha thalassemia-intellectual disability syndrome, deletion type alpha thalassemia-retardation syndrome alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 alpha-thalassemia/intellectual disability syndrome, deletion-type alpha-thalassemia/intellectual disability syndrome, type 1 alpha-thalassemia/mental retardation syndrome, deletion-type alpha-thalassemia/mental retardation syndrome, type 1 ALPHA-thalassemia/intellectual disability syndrome, chromosome 16-related ALPHA-thalassemia/mental retardation syndrome, chromosome 16-related ATR, deletion-type Alpha-thalassemia/intellectual disability syndrome, deletion-type Alpha-thalassemia/mental retardation syndrome, deletion-type Hemoglobin H-related intellectual disability Hemoglobin H-related mental retardation chromosome 16P deletion syndrome intellectual disability with Hemoglobin H mental retardation with Hemoglobin H alpha thalassemia-intellectual disability syndrome type 1 MONDO:0007717 HEMOGLOBIN--variants FOR which the chain carrying the mutation IS unknown or uncertain hemoglobin--variants for which the chain carrying the mutation 1S unknown or uncertain MONDO:0007718 https://github.com/monarch-initiative/mondo/issues/4521 hepatic adenoma, somatic hepatic adenomas, familial liver cell adenomas, familial hepatic adenomas, familial MONDO:0007719 https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 diaphragmatic hernia, congenital 1 hernia, congenital diaphragmatic 1 DIH1 diaphragm, complete agenesis of diaphragm, unilateral agenesis of diaphragmatic defect, congenital diaphragmatic hernia, congenital hemidiaphragm, agenesis of hernia, congenital diaphragmatic diaphragmatic hernia 1 MONDO:0007720 hernia, double inguinal hernia, double inguinal MONDO:0007721 Herniation of the upper part of the stomach through the diaphragm. hiatus hernia (disease) diaphragmatic - hiatus -hernia hiatal hernia hiatus hernia hiatus hernia (disease) hernia, hiatus hiatus hernia MONDO:0007722 heterochromia iridis (disease) heterochromia iridis heterochromia iridis (disease) heterochromia iridis MONDO:0007723 An inherited susceptibility or predisposition to developing Hirschsprung disease in which the cause of the disease is a mutation in the RET gene. https://github.com/monarch-initiative/mondo/issues/4882 Hirschsprung disease aganglionic megacolon megacolon, aganglionic HSCR1 Hirschsprung disease caused by mutation in RET Hirschsprung disease, susceptibility to, 1 Hirschsprung disease, susceptibility to, type 1 RET Hirschsprung disease susceptibility to Hirschsprung disease 1 Hirschsprung disease, protection against Hirschsprung disease, susceptibility to, 1 MONDO:0007724 https://github.com/monarch-initiative/mondo/issues/5588 Wiedemann-Oldigs-Oppermann syndrome Wiedemann Oldigs Oppermann syndrome hirsutism skeletal dysplasia intellectual disability syndrome hirsutism skeletal dysplasia mental retardation syndrome hirsutism, skeletal dysplasia, and intellectual disability hirsutism, skeletal dysplasia, and mental retardation hirsutism-skeletal dysplasia-intellectual disability syndrome MONDO:0007725 Hereditary progressive mucinous histiocytosis is a rare, benign, non-Langerhans cell histiocytosis characterized by childhood or adolescence onset of multiple, small, asymptomatic, slowly progressing, skin-colored to red-brown papules with predilection for the face, dorsal hands, forearms and legs, without associated mucosal or visceral involvement. Histologically, papules are well-circumscribed, unencapsulated, nodular aggregates of histiocytes with abundant mucin in the upper and middermis. histiocytosis, progressive mucinous hereditary progressive mucinous histiocytosis MONDO:0007726 Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develops in childhood and that progresses to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing. https://github.com/monarch-initiative/mondo/issues/4948 BFHD Beukes familial hip dysplasia Cilliers-Beighton syndrome hip dysplasia, Beukes type premature degenerative osteoarthropathy of the hip BHD Beukes hip dysplasia hip dysplasia Beukes type osteoarthropathy, premature degenerative, of hip hip dysplasia, Beukes type MONDO:0007727 Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis. TNF receptor 1-associated periodic syndrome TRAPS TRAPS syndrome familial Hibernian fever tumor necrosis factor receptor 1 associated periodic syndrome tumor necrosis factor receptor 1-associated periodic syndrome FHF FPF Hibernian fever, familial TNF receptor-associated periodic fever syndrome TNF receptor-associated periodic syndrome periodic FEVER, familial, autosomal dominant tumor necrosis factor receptor-associated periodic syndrome autosomal dominant familial periodic fever MONDO:0007728 Any familial acne inversa in which the cause of the disease is a mutation in the NCSTN gene. NCSTN familial acne inversa acne inversa, familial, 1 acne inversa, familial, type 1 familial acne inversa caused by mutation in NCSTN ACNINV1 acne inversa, familial hidradenitis suppurativa, familial acne inversa, familial, 1 MONDO:0007729 acetabular dysplasia hip dysplasia, congenital DDH1 developmental dysplasia of the hip 1 hip dysplasia, developmental developmental dysplasia of the hip 1 MONDO:0007730 histiocytic dermatoarthritis histiocytic dermatoarthritis MONDO:0007732 Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. https://github.com/monarch-initiative/mondo/issues/4948 atrio digital syndrome atrio-digital syndrome atriodigital dysplasia heart-hand syndrome HOS Holt-Oram syndrome atriodigital dysplasia type 1 heart-hand syndrome type 1 Cardiac-limb syndrome HOLT-Oram syndrome HOS 1 Hos1 heart-hand syndrome, type 1 ventriculo-radial syndrome Holt-Oram syndrome MONDO:0007733 Any holoprosencephaly in which the cause of the disease is a mutation in the SHH gene. HLP3 HPE3 SHH holoprosencephaly Shh holoprosencephaly holoprosencephaly 3 holoprosencephaly caused by mutation in SHH holoprosencephaly caused by mutation in Shh holoprosencephaly type 3 Hlp3 holoprosencephaly 3 MONDO:0007734 A rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis. HPE4 TGIF1 holoprosencephaly holoprosencephaly 4 holoprosencephaly caused by mutation in TGIF1 holoprosencephaly type 4 holoprosencephaly 4 MONDO:0007735 Congenital Horner syndrome is a rare neurological disorder characterized by relative pupillary miosis and blepharoptosis, evident at birth, caused by interruption of the oculosympathetic innervation at any point along the neural pathway from the hypothalamus to the orbit. Often additional symptoms, such as enophthalmos, facial anhidrosis, iris heterochromia, conjunctival congestion, transient hypotonia and/or pupillary dilation lag, may be present. Association with birth trauma, neoplasms or vascular malformations has been reported. congenital Horner syndrome (disease) congenital Claude-Bernard-Horner syndrome congenital Horner syndrome congenital Horner syndrome (disease) HORNER syndrome, congenital congenital Horner syndrome MONDO:0007736 HPA I RECOGNITION polymorphism, BETA-globin-RELATED HPA I RECOGNITION polymorphism, BETA-globin-related HPA1 restriction fragment length polymorphism, sickle cell Anemia-related HPA 1 Recognition polymorphism, beta-globin-related MONDO:0007737 Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present. humeroradial synostosis (disease) humero-radial fusion humeroradial synostosis humeroradial synostosis (disease) humero-radial synostosis humeroradial synostosis MONDO:0007738 CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal. https://github.com/monarch-initiative/mondo/issues/4948 spondyloepiphyseal dysplasia CHST3-related skeletal dysplasia Humerospinal dysostosis Kozlowski Celermajer tink syndrome Omani type SDCD, CHST3 type chondrodysplasia with congenital joint dislocations, CHST3 type chondrodysplasia with multiple dislocations humero-spinal dysostosis with congenital heart disease spondyloepiphyseal dysplasia with congenital joint dislocations spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type Gollop Coates syndrome SEDCJD bifurcation of distal humerus with oligoectro-syndactyly spondyloepiphyseal dysplasia with congenital JOINT dislocations spondyloepiphyseal dysplasia, Omani type spondyloepiphyseal dysplasia with congenital joint dislocations https://rarediseases.info.nih.gov/diseases/2533/gollop-coates-syndrome MONDO:0007739 Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia. HD Huntington chorea Huntington disease Huntington's chorea Huntington's disease Huntington disease MONDO:0007740 Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment. VCAN-related vitreoretinopathy Wagner disease Wagner syndrome dominant hyaloideoretinal dystrophy of Wagner vitreoretinal degeneration, Wagner type ERVR WGN1 WGVRP Wagner disease (formerly) Wagner syndrome 1 Wagner syndrome type 1 Wagner vitreoretinal Degeneration Wagner vitreoretinopathy erosive vitreoretinopathy hyaloideoretinal Degeneration of Wagner Wagner disease MONDO:0007741 Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy. https://github.com/monarch-initiative/mondo/issues/4069 Editor note: TODO check relationship to OMIM:143400 congenital hydronephrosis MONDO:0007742 5-hydroxytryptamine oxygenase regulator 5-HYDROXYTRYPTAMINE oxygenase regulator HTOR 5-hydroxytryptamine oxygenase regulator MONDO:0007743 A disorder characterized by a marked pattern of inattention and/or hyperactivity-impulsivity that is inconsistent with developmental level and clearly interferes with functioning in at least two settings (e.g. at home and at school). When present, the symptoms of hyperactivity are most often present before the age of 7 years. There are three recognized presentations or subtypes from most to least common: combined type, inattentive/distractible type, hyperactive/impulsive type. https://github.com/monarch-initiative/mondo/issues/4521 attention deficit hyperactivity disorder attention deficit-hyperactivity disorder attention deficit-hyperactivity disorder, susceptibility to attention deficit/hyperactivity disorder ADHD hyperactivity of childhood attention deficit-hyperactivity disorder MONDO:0007744 https://github.com/monarch-initiative/mondo/issues/4521 hyperalphalipoproteinemia CEPT deficiency familial hyperalphalipoproteinemia high density lipoprotein cholesterol level QTL 10 hyperalphalipoproteinemia type 1 CETP deficiency HALP1 Hdlcq10 cholesterol ester transfer Protein deficiency high density lipoprotein cholesterol level quantitative trait locus 10 hyperalphalipoproteinemia 1 cholesterol-ester transfer protein deficiency MONDO:0007745 An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice. https://github.com/monarch-initiative/mondo/issues/4521 Gilbert disease Gilbert syndrome Gilbert's disease Gilbert's syndrome Gilbert-Meulengracht syndrome constitutional hyperbilirubinemia familial cholemia hereditary nonhemolytic jaundice hyperbilirubinemia type 1 hyperbilirubinemia 1 hyperbilirubinemia, Arias type hyperbilirubinemia, Gilbert type Gilbert syndrome MONDO:0007746 https://github.com/monarch-initiative/mondo/issues/4521 orthostatic hypotensive disorder of Streeten orthostatic hypotensive disorder, Streeten type OHDS hyperbradykininism orthostatic hypotensive disorder orthostatic hypotensive disorder, Streeten type MONDO:0007747 hyperchlorhidrosis, isolated isolated hyperchlorhidrosis isolated hyperchlorhidrosis MONDO:0007748 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 hypercalciuria, absorptive, 2 hypercalciuria, absorptive, susceptibility to hypercalciuria, absorptive, type 2 HCA2 hypercalciuria, familial idiopathic hypercalciuria, absorptive, 2 MONDO:0007750 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 FHCL1 LDL cholesterol level QTL2 LDL receptor disorder hypercholesterolemia, familial hypercholesterolemia, familial, 1 hypercholesterolemia, familial, due to ldlr defect, modifier of hypercholesterolemia, familial, modifier of hypercholesterolemic xanthomatosis, familial hyperlipoproteinemia, type 2 hyperlipoproteinemia, type 2A FHC hyper-low-density-lipoproteinemia hypercholesterolemia, susceptibility to low density lipoprotein cholesterol level quantitative trait locus 2 hypercholesterolemia, familial, 1 MONDO:0007751 https://github.com/monarch-initiative/mondo/issues/4521 hypercholesterolemia, autosomal dominant, type B hypercholesterolemia, familial, 2 apolipoprotein B-100, familial defective apolipoprotein B-100, familial ligand-defective hypercholesterolemia, familial, due to ligand-defective apolipoprotein B hypercholesterolemia, autosomal dominant, type B MONDO:0007752 hyperheparinemia hyperheparinemia MONDO:0007753 An autonomic disorder characterized by excessive sweating of the forehead, upper lip, perioral region, or sternum subsequent to gustatory stimuli. The auriculotemporal syndrome features facial flushing or sweating limited to the distribution of the auriculotemporal nerve and may develop after trauma to the parotid gland, in association with parotid neoplasms, or following their surgical removal. (From Ann Neurol 1997 Dec;42(6):973-5) Baillarger syndrome Frey syndrome gustatory hyperhidrosis gustatory sweating Frey's syndrome HYPRG auriculotemporal nerve syndrome hyperhidrosis gustatory hyperhidrosis, gustatory Frey syndrome MONDO:0007754 HYPRPP hyperhidrosis palmaris ET plantaris hyperhidrosis, primary palmar hyperhidrosis palmaris ET plantaris MONDO:0007755 https://github.com/monarch-initiative/mondo/issues/4521 hyperimmunoglobulin G1 syndrome hyperimmunoglobulin G1(A1) syndrome Immunoglobulin heavy chain regulator hyperimmunoglobulin G1(A1) syndrome MONDO:0007756 hyperkeratosis lenticularis perstans (disease) Flegel disease hyperkeratosis lenticularis perstans hyperkeratosis lenticularis perstans (disease) Flegel's disease HLP hyperkeratosis lenticularis perstans of Flegel hyperkeratosis lenticularis perstans MONDO:0007757 Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993. hyperkeratosis-hyperpigmentation syndrome hyperkeratosis-hyperpigmentation syndrome MONDO:0007758 A genetic skin disorder caused by mutations in the KRT9 gene. It is characterized by hyperkeratosis in the palms and soles resulting in abnormal thickening of the skin in these areas. EPPK diffuse erythrodermic palmoplantar keratoderma, VC6rner type diffuse erythrodermic palmoplantar keratoderma, Voerner type epidermolytic palmoplantar keratoderma of VC6rner epidermolytic palmoplantar keratoderma of Voerner Ppke diffuse erythrodermic palmoplantar keratoderma, Vörner type epidermolytic palmoplantar keratoderma of Vörner hyperkeratosis palmoplantar localized epidermolytic hyperkeratosis, localized epidermolytic keratoderma, epidermolytic palmoplantar keratosis of Greither keratosis palmaris Et plantaris Familiaris palmoplantar keratoderma, Vorner type palmoplantar keratoderma, epidermolytic palmoplantar keratoderma, epidermolytic, with knuckle pads tylosis epidermolytic palmoplantar keratoderma https://rarediseases.info.nih.gov/diseases/2826/epidermolytic-palmoplantar-keratoderma MONDO:0007759 https://github.com/monarch-initiative/mondo/issues/4521 combined hyperlipidemia, familial FCHL familial combined hyperlipidemia hyperlipidemia, familial combined Editor note: the OMIM:144250 entry refers to the LPL-caused form hyperlipidemia, familial combined, LPL related MONDO:0007760 hyperlipoproteinemia, type II, and deafness hyperlipoproteinemia, type II, and deafness MONDO:0007761 A laboratory test result indicating an autosomal dominant condition in which there is increased very low density lipoprotein production, which leads to increased triglyceride concentration. familial hypertriglyceridemia Fredrickson type IV Lipidemia Fredrickson type IV hyperlipoproteinemia Fredrickson type IV lipidaemia VLDL hyperlipoproteinemia endogenous hyperlipidaemia carbohydrate inducible hyperlipemia carbohydrate-inducible hyperlipemia familial type IV hyperlipoproteinemia hyperlipoproteinemia type 4 hyperlipoproteinemia, type 4 hyperlipoproteinemia, type IV hyperlipoproteinemia type IV https://rarediseases.info.nih.gov/diseases/6418/hyperlipoproteinemia-type-4 MONDO:0007762 A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma chylomicrons and triglycerides contained in very-low-density lipoproteins. Type V hyperlipoproteinemia is often associated with diabetes mellitus and is not caused by reduced lipoprotein lipase activity as in hyperlipoproteinemia type I. Fredrickson type V lipaemia HLP type 5 familial APOA5 deficiency familial apolipoprotein A-V deficiency familial apolipoprotein a5 deficiency familial hyperlipoproteinemia type V familial type 5 hyperlipoproteinemia major hyperlipidemia hyperchylomicronemia late onset hyperchylomicronemia with Hyperprebetalipoproteinemia, familial hyperchylomicronemia, late-onset hyperlipemia combined fat and carbohydrate-induced hyperlipemia mixed hyperlipemia, combined fat and carbohydrate-induced hyperlipemia, mixed hyperlipidemia type V hyperlipidemia, type 5 hyperlipoproteinemia type 5 hyperlipoproteinemia, type 5 hyperlipoproteinemia, type V mixed hyperlipemia type V hyperlipoproteinemia hyperlipoproteinemia type V https://rarediseases.info.nih.gov/diseases/6704/hyperlipoproteinemia-type-5 MONDO:0007763 https://github.com/monarch-initiative/mondo/issues/2262 https://github.com/monarch-initiative/mondo/issues/4521 renal cell carcinoma renal carcinoma, chromophobe, somatic renal cell carcinoma, clear cell renal cell carcinoma, clear cell, somatic renal cell carcinoma, somatic CCRCC clear cell renal cell adenocarcinoma clear cell renal cell carcinoma RCC adenocarcinoma of kidney hypernephroma nonpapillary renal carcinoma 1 locus renal cell carcinoma, nonpapillary nonpapillary renal cell carcinoma MONDO:0007764 A sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4533 https://github.com/monarch-initiative/mondo/issues/4948 Ostéosclérose autosomique dominante type Worth Worth syndrome Worth's syndrome autosomal dominant endosteal hyperostosis autosomal dominant osteosclerosis benign form of Worth hyperostosis corticalis generalisata with torus platinus endosteal hyperostosis, Worth type hyperostosis, endosteal VBCH2 Van Buchem disease type 2 Van Buchem disease, type 2 endosteal hyperostosis, autosomal dominant hyperostosis corticalis generalisata, benign form of Worth with torus palatinus hyperostosis corticalis generalisata, benign form of Worth, with torus palatinus osteosclerosis of the skull and enlarged mandible osteosclerosis, autosomal dominant osteosclerosis, autosomal dominant, Worth type autosomal dominant osteosclerosis, Worth type MONDO:0007765 https://github.com/monarch-initiative/mondo/issues/4521 hyperostosis cranialis interna (disease) hyperostosis cranalis interna hyperostosis cranialis interna hyperostosis cranialis interna (disease) HCIN hyperostosis cranialis interna MONDO:0007766 Morgagni-Stewart-Morel syndrome is characterised by thickening of the inner table of the frontal bone, sometimes associated with obesity and hypertrichosis. It mainly affects women over 35 years of age. The prevalence and clinical significance of hyperostosis frontalis interna is unknown. Transmission is either X-linked or autosomal dominant. Morgagni-Stewart-Morel syndrome hyperostosis frontalis interna MSM syndrome hyperostosis frontalis interna, obesity, shortness and cognitive impairment Morgagni-Stewart-Morel syndrome https://rarediseases.info.nih.gov/diseases/8593/morgagni-stewart-morel-syndrome MONDO:0007767 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 hyperparathyroidism 1 hyperparathyroidism type 1 hyperparathyroidism, familial primary HRPT1 hyperparathyroidism, familial isolated primary parathyroid adenoma, familial hyperparathyroidism 1 MONDO:0007768 An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 HPT-JT hyperparathyroidism 2 with jaw tumors hyperparathyroidism type 2 hyperparathyroidism-2 hyperparathyroidism-jaw tumor syndrome parathyroid adenoma with cystic changes HRPT2 familial primary hyperparathyroidism with multiple ossifying jaw fibromas hereditary hyperparathyroidism-jaw tumor syndrome hyperparathyroidism 2 hyperparathyroidism, familial primary, with multiple ossifying jaw fibromas hyperparathyroidism-jaw tumor syndrome, hereditary parathyroid adenomatosis, familial cystic hyperparathyroidism 2 with jaw tumors https://rarediseases.info.nih.gov/diseases/10829/hyperparathyroidism-jaw-tumor-syndrome MONDO:0007769 Over-production of pigment in the eyelid. dyspigmentation of eyelid hyperpigmentation of eyelids hyperpigmentation of eyelid MONDO:0007770 hyperpigmentation of Fuldauer and Kuijpers hyperpigmentation of Fuldauer and Kuijpers MONDO:0007771 https://github.com/monarch-initiative/mondo/issues/4521 hyperpigmentation with or without hypopigmentation hyperpigmentation with or without hypopigmentation, familial progressive macules, hereditary congenital hypopigmented and hyperpigmented melanosis, universal FPHH hyperpigmentation, familial progressive, 2 hyperpigmentation, familial progressive, 2, formerly melanosis universalis hereditaria hyperpigmentation with or without hypopigmentation, familial progressive MONDO:0007772 PHA2A Gordon hyperkalemia-hypertension syndrome hyperpotassemia and hypertension, familial hypertensive hyperkalemia, familial pseudohypoaldosteronism, type IIA pseudohypoaldosteronism type 2A MONDO:0007773 hyperproglucagonemia glucagon, large molecular weight species of hyperproglucagonemia MONDO:0007774 An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes. hyperreflexia (disease) hyperreflexia hyperreflexia (disease) HRX hyperreflexia MONDO:0007775 hypersecretion of adrenal androgens, familial familial hypersecretion of adrenal androgens hypersecretion of adrenal androgens, familial https://rarediseases.info.nih.gov/diseases/9593/familial-hypersecretion-of-adrenal-androgens MONDO:0007776 An instance of hypersensitivity pneumonitis that is caused by an inherited modification of the individual's genome. hereditary hypersensitivity pneumonitis hypersensitivity pneumonitis, familial hypersensitivity pneumonitis, familial MONDO:0007777 https://github.com/monarch-initiative/mondo/issues/4521 hypertaurinuric cardiomyopathy hypotaurinemic retinal degeneration and cardiomyopathy hypertaurinuric cardiomyopathy MONDO:0007779 Autosomal dominant form of Opitz G/BBB syndrome. ADOS Opitz G/BBB syndrome, autosomal dominant autosomal dominant Opitz BBB/G syndrome autosomal dominant Opitz syndrome BBB syndrome G syndrome GBBB syndrome GBBB2 Opitz Bbbg syndrome Opitz GBBB syndrome, autosomal dominant Opitz GBBB syndrome, type 2 Opitz GBBB syndrome, type II Opitz oculogenitolaryngeal syndrome, type 2 Opitz-Frias syndrome Opitz-G syndrome, type 2 chromosome 22Q11.2 deletion syndrome, Opitz phenotype hypertelorism with esophageal Abnormality and hypospadias hypertelorism-hypospadias syndrome hypospadias-dysphagia syndrome telecanthus with associated abnormalities telecanthus-hypospadias syndrome autosomal dominant Opitz G/BBB syndrome MONDO:0007781 An instance of essential hypertension that is caused by a modification of the individual's genome. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 blood pressure regulation QTL genetic essential hypertension hypertension, essential, salt-sensitive hypertension, essential, susceptibility to, 2 hypertension, essential, susceptibility to, 3 hypertension, essential, susceptibility to, 4 hypertension, essential, susceptibility to, 5 hypertension, essential, susceptibility to, 6 hypertension, susceptibility to EHT hypertension, essential hypertension, essential, susceptibility to hypertension, essential, susceptibility to, 1 hypertension, salt-sensitive essential, susceptibility to essential hypertension, genetic MONDO:0007782 hyperthermia, cutaneous, with headaches and nausea farmer syndrome hyperthermia, cutaneous, with headaches and nausea MONDO:0007783 Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the RYR1 gene. https://github.com/monarch-initiative/mondo/issues/4521 RYR1 malignant hyperthermia of anesthesia malignant hyperthermia of anesthesia caused by mutation in RYR1 malignant hyperthermia susceptibility 1 malignant hyperthermia, susceptibility to, 1 malignant hyperthermia, susceptibility to, type 1 King syndrome King-Denborough syndrome King-Denborough syndrome, included MHS MHS1 hyperpyrexia, malignant hyperpyrexia, malignant;MH KING syndrome, included hyperthermia of anesthesia malignant hyperthermia susceptibility type 1 susceptibility to malignant hyperthermia 1 malignant hyperthermia, susceptibility to, 1 https://rarediseases.info.nih.gov/diseases/3363/malignant-hyperthermia-susceptibility-type-1 MONDO:0007784 Pituitary resistance to thyroid hormone is a rare, genetic thyroid disease, due to reduced pituitary gland responsiveness to thyroid hormone, characterized by mild to moderate hyperthyroidism in association with elevated circulating thyroid hormone levels, normal or elevated thyroid stimulating hormone, and no abnormalities of the pituitary gland on MRI. Patients present with diffuse large goiter, tachycardia, atrial fibrillation, weight loss and/or heat intolerance/perspiration, but no exophthalmos or anterior tibial mixedema. PRTH hyperthyroidism, familial, due to inappropriate thyrotropin secretion pituitary resistance to thyroid hormone thyroid hormone resistance, selective pituitary selective pituitary resistance to thyroid hormone MONDO:0007785 https://github.com/monarch-initiative/mondo/issues/4521 dystransthyretinemic hyperthyroxinemia hyperthyroxinemia, dystransthyretinemic DTTRH dystransthyretinemic ethyroidal hyperthyroxinemia euthryroidal hyperthyroxinemia 2 hyperthyroxinemia, Dysprealbuminemic hyperthyroxinemia, dystransthyretinemic MONDO:0007787 Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth. Ambras syndrome HTC1 HTC 1 congenital generalized hypertrichosis, Ambras type hypertrichosis universalis congenita Ambras type hypertrichosis universalis congenita, Ambras type hypertrichosis, congenital generalized Ambras type hypertrichosis universalis congenita MONDO:0007788 An instance of hypertriglyceridemia (disease) that is caused by an inherited modification of the individual's genome. https://github.com/monarch-initiative/mondo/issues/4521 hereditary hypertriglyceridemia (disease) hypertriglyceridemia, familial hypertriglyceridemia, susceptibility to hypertriglyceridemia, familial MONDO:0007789 hypertrophia musculorum vera hypertrophia musculorum vera MONDO:0007790 https://github.com/monarch-initiative/mondo/issues/4521 CMT3 Charcot-Marie-Tooth disease type 3 Charcot-Marie-Tooth disease, type 3 Dejerine-Sottas neuropathy Dejerine-Sottas syndrome HMSN 3 HMSN III HMSN3 dejerine-sottas disease hereditary motor and sensory neuropathy type 3 hereditary motor and sensory neuropathy type III hypertrophic neuropathy of Dejerine-Sottas DSN hereditary motor and sensory neuropathy 3 hypertrophic neuropathy of infancy Editor note: merged Dejerine-Sottas Neuropathy on basis of Ordo and ncit Charcot-Marie-Tooth disease type 3 MONDO:0007791 Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the CASR gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 CASR familial hypocalciuric hypercalcemia FHH type 1 HHC1 familial benign hypercalcemia 1 familial hypocalciuric hypercalcemia caused by mutation in CASR familial hypocalciuric hypercalcemia type 1 familial hypocalciuric hypercalcemia type I hpocalciuric hypercalcemia, type I hypocalciuric hypercalcemia type I FBH1 Fhh1 familial benign hypercalcemia type 1 hypercalcemia, familial benign hypercalcemia, familial benign type 1 hypocalciuric hypercalcemia, acquired hypocalciuric hypercalcemia, familial, type 1 hypocalciuric hypercalcemia, familial, type I familial hypocalciuric hypercalcemia 1 MONDO:0007792 A familial hypocalciuric hypercalcemia that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13. https://github.com/monarch-initiative/mondo/issues/4521 FHH type 2 HHC2 familial hypocalciuric hypercalcemia type 2 hpocalciuric hypercalcemia, type II hypocalciuric hypercalcemia type II FBH2 familial benign hypercalcemia, type 2 hypercalcemia, familial benign type 2 hypercalcemia, familial benign, type 2 hypocalciuric hypercalcemia, familial, type 2 hypocalciuric hypercalcemia, familial, type II familial hypocalciuric hypercalcemia 2 MONDO:0007793 Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints. https://github.com/monarch-initiative/mondo/issues/4948 hypochondroplasia HCH hypochondroplasia https://rarediseases.info.nih.gov/diseases/6724/hypochondroplasia MONDO:0007794 A hypogonadotropic hypogonadism that has material basis in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported. https://github.com/monarch-initiative/mondo/issues/4521 hypogonadotropic hypogonadism 7 with or without anosmia hypogonadotropic hypogonadism 7 without anosmia HH7 hypogonadism, isolated hypogonadotropic idiopathic hypogonadotropic hypogonadism hypogonadotropic hypogonadism 7 with or without anosmia MONDO:0007795 Mullerian duct anomalies-limb anomalies syndrome is characterised by the association of mullerian duct and distal limb anomalies. It has been described in five individuals from one family. Females presented with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males presented with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. The mode of transmission is autosomal dominant. Müllerian duct anomalies-limb anomalies syndrome hypomelia mullerian duct anomalies hypomelia with mullerian duct anomalies limb uterus syndrome limb-uterus syndrome severe upper limb hypoplasia and Mullerian duct anomalies mullerian duct anomalies-limb anomalies syndrome MONDO:0007796 FIH hypoparathyroidism, familial isolated FIH1 hypoparathyroidism, familial isolated 1 hypoparathyroidism familial isolated hypoparathyroidism, autosomal dominant hypoparathyroidism, autosomal recessive hypoparathyroidism, familial isolated 1 MONDO:0007797 The HDR syndrome is an inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease. Barakat syndrome HDR syndrome hypoparathyroidism, deafness, and renal anomalies syndrome hypoparathyroidism, sensorineural deafness, and renal disease hypoparathyroidism-deafness-renal disease syndrome HDR hypoparathyroidism, sensorineural deafness, and renal dysplasia hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome nephrosis, nerve deafness, and hypoparathyroidism hypoparathyroidism-deafness-renal disease syndrome MONDO:0007799 hypophosphatemic bone disease HBD hypophosphatemic bone disease MONDO:0007800 Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18. https://github.com/monarch-initiative/mondo/issues/3664 18p syndrome 18p- De Grouchy syndrome chromosome 18p deletion chromosome 18p deletion syndrome deletion 18p syndrome monosomy 18p monosomy type 18p partial deletion of chromosome 18p partial deletion of the short arm of chromosome 18 partial deletion of the short arm of chromosome type 18 partial monosomy of chromosome 18p partial monosomy of the short arm of chromosome 18 chromosome 18p deletion syndrome MONDO:0007802 https://github.com/monarch-initiative/mondo/issues/4521 hypospadias 3, autosomal hypospadias 3, autosomal, multifactorial HYSP3 hypospadias 3, autosomal MONDO:0007803 Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years. MSA Shy-Drager syndrome multisystem atrophy Shy-dragger syndrome (formerly) autonomic failure, Pure hypotension, orthostatic susceptibility to multiple system atrophy 1 multiple system atrophy MONDO:0007804 Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations. https://github.com/monarch-initiative/mondo/issues/4948 PHS Pallister Hall syndrome Pallister-Hall syndrome ano-cerebro-digital syndrome hypothalamic hamartoblastoma syndrome hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly Pallister-Hall syndrome https://rarediseases.info.nih.gov/diseases/7305/pallister-hall-syndrome MONDO:0007805 Any hypotrichosis in which the cause of the disease is a mutation in the CDSN gene. CDSN hypotrichosis Spanish type hypotrichosis hypotrichosis 2 hypotrichosis caused by mutation in CDSN hypotrichosis simplex of the scalp 1 hypotrichosis type 2 hypt2 HYPT2 Htss hypotrichosis, Spanish type hypotrichosis 2 MONDO:0007807 hypoxanthine guanine phosphoribosyltransferase suppressor hypoxanthine guanine phosphoribosyltransferase suppressor MONDO:0007808 Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK). https://github.com/monarch-initiative/mondo/issues/4521 ichthyosis histrix, curth-macklin type ichthyosis hystrix, Curth-Macklin type Curth-Macklin type ichthyosis hystrix IHCM ichthyosis HYSTRIX, Curth-Macklin type ichthyosis hystrix, Curth Macklin type ichthyosis hystrix of Curth-Macklin MONDO:0007809 ichthyosis hystrix gravior ichthyosis, Lambert type Lambert type ichthyosis porcupine Man ichthyosis hystrix gravior https://rarediseases.info.nih.gov/diseases/9497/ichthyosis-hystrix-gravior MONDO:0007810 Ichthyosis vulgaris is a common skin disorder passed down through families that leads to dry, scaly skin. It often begins in early childhood. Treatment may include heavy duty moisturizers which contain chemicals that help the skin to shed normally, including lactic acid, salicylic acid, and urea. Ichthyosis vulgaris can be a nuisance, but it rarely affects overall health. The condition usually disappears during adulthood, but may return in later years. This condition is inherited in an autosomal dominant pattern. https://github.com/monarch-initiative/mondo/issues/4293 https://github.com/monarch-initiative/mondo/issues/5537 autosomal dominant ichthyosis vulgaris dominant congenital ichthyosiform erythroderma ichthyosis vulgaris, autosomal dominant dominant ichthyosis vulgaris ichthyosis simplex ichthyosis vulgaris autosomal dominant ichthyosis vulgaris MONDO:0007811 Ichthyosis-cheek-eyebrow syndrome is characterised by ichthyosis, prominent full cheeks and sparse lateral eyebrows. It has been described in several individuals from four generations of one family. Transmission is autosomal dominant. Sidransky-Feinstein-Goodman syndrome Ice syndrome Sidransky Feinstein Goodman syndrome ichthyosis cheek eyebrow syndrome ichthyosis--cheek--eyebrow syndrome ichthyosis-cheek-eyebrow syndrome MONDO:0007812 ichthyosis, lamellar, autosomal dominant ichthyosis lamellar, autosomal dominant lamellar ichthyosis, autosomal dominant ichthyosis, lamellar, autosomal dominant https://rarediseases.info.nih.gov/diseases/9735/ichthyosis-lamellar-autosomal-dominant MONDO:0007813 Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI) characterized by the presence of superficial blisters and erosions at birth. SEI bullous type ichthyosis ichthyosis bullosa of Siemens superficial epidermolytic ichthyosis IBS bullous type of ichthyosis ichthyosis exfoliativa ichthyosis, bullous type superficial epidermolytic ichthyosis https://rarediseases.info.nih.gov/diseases/2966/ichthyosis-bullosa-of-siemens MONDO:0007814 immune deficiency, familial variable immune deficiency, familial variable https://rarediseases.info.nih.gov/diseases/2984/immune-deficiency-familial-variable MONDO:0007817 Immediate hypersensitivity reaction - type I reaction, involves immunoglobulin E (IgE)-mediated release of chemical mediators from mast cells and basophils. Th2 cells produce IL-4 and IL-13, which then act on B cells to promote the production of antigen-specific IgE. Reexposure to the antigen can then result in the antigen binding to and cross-linking the bound IgE antibodies on the mast cells and basophils. This causes the release of preformed mediators (histamine, tryptase, tryptase, chemotactic factors), newly synthesized mediators (leukotrienes, prostaglandin, thromboxane, platelet-activating factor, adenosine, bradykinin), and cytokines from these cells that results in structural and functional changes to the affected tissue. https://github.com/monarch-initiative/mondo/issues/4521 IgE responsiveness, atopic IgE, elevated level of immediate hypersensitivity type 1 hypersensitivity type 1 hypersensitivity reaction type I hypersensitivity type I hypersensitivity reaction type I immediate hypersensitivity reaction Atopic hypersensitivity IGER IgE response underlying allergic asthma and rhinitis IgE responsiveness, ATOPIC IgE, level of Immunoglobulin E, basic level of, in serum atopy, susceptibility to IgE responsiveness, atopic MONDO:0007818 A condition of decreased or absent presence or activity of signal transducer and activator of transcription 3 protein. Deficiency of this protein is associated with hyper-IgE syndrome. https://github.com/monarch-initiative/mondo/issues/3804 hyper-IgE recurrent infection syndrome hyperimmunoglobulin E-recurrent infection syndrome AD hyperimmunoglobulin E syndrome AD-HIES Buckley syndrome HIES autosomal dominant HIES, autosomal dominant JOB syndrome Job syndrome autosomal dominant Job's syndrome STAT3 deficiency autosomal dominant HIES autosomal dominant hyper IgE syndrome autosomal dominant hyper-IgE syndrome autosomal dominant hyperimmunoglobulin E syndrome hyper Ig E syndrome, autosomal dominant hyper-IgE recurrent infection syndrome, autosomal dominant hyper-IgE syndrome, autosomal dominant hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant hyperimmunoglobulin E syndrome type 1 immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist hyper-IgE recurrent infection syndrome 1 https://rarediseases.info.nih.gov/diseases/6800/autosomal-dominant-hyper-ige-syndrome MONDO:0007819 A hereditary autosomal dominant condition characterized primarily by single (unpaired) deciduous and permanent maxillary central incisors and short stature. Growth hormone deficiencies may also be present. Mutations in the SHH gene have been identified. https://github.com/monarch-initiative/mondo/issues/4521 SMMCI single median maxillary central incisor single upper central incisor solitary median maxillary central incisor syndrome Fused incisors SMMCI syndrome incisors fused incisors, Fused single central maxillary incisor solitary MEDIAN maxillary central incisor solitary median maxillary central incisor syndrome MONDO:0007820 Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia and an increased risk of pulp exposure. 'Double Tooth' Double tooth incisors, FUSED mandibular fused mandibular incisors https://rarediseases.info.nih.gov/diseases/2419/fused-mandibular-incisors MONDO:0007824 incisors, lower central, absence of incisors, lower central, absence of MONDO:0007825 incisors, rotation of upper central incisors, rotation of upper central MONDO:0007826 incisors, shovel-shaped Sinodonty incisors, shovel-shaped MONDO:0007827 A slowly progressive degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness of specific muscles and distinctive histopathological features. IBM inclusion body myositis sIBM sporadic inclusion body myositis Ibm inflammatory myopathy inclusion body myositis MONDO:0007828 indifference to pain, congenital, autosomal dominant MARSILI syndrome MARSIS Marsili syndrome congenital analgesia, autosomal dominant insensitivity to pain, congenital, autosomal dominant indifference to pain, congenital, autosomal dominant MONDO:0007829 https://github.com/monarch-initiative/mondo/issues/3897 cholestasis, intrahepatic, of pregnancy, 1 cholestasis, intrahepatic, of pregnancy, type 1 ICP1 cholestasis, pregnancy-related, 1 cholestasis, intrahepatic, of pregnancy, 1 MONDO:0007830 insensitivity to pain with hyperplastic Myelinopathy insensitivity to pain with hyperplastic Myelinopathy MONDO:0007831 insect Stings, hypersensitivity to insect Stings, hypersensitivity to MONDO:0007832 interferon antiviral depressor interferon antiviral depressor MONDO:0007833 iris pigment layer, cleavage of iris pigment layer, cleavage of MONDO:0007834 A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia. islet cell adenomatosis INSDM INSULINOMATOSIS and diabetes mellitus Insulinomatosis and diabetes mellitus nesidioblastosis islet cell adenomatosis MONDO:0007835 Telescoping or invagination of a part of the intestine into an adjacent segment. intussusception intussusception (morphologic abnormality) intussusception of intestine invagination of intestine or colon intussusception MONDO:0007836 IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss. IVIC syndrome oculo-oto-radial syndrome radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia Instituto venezolano de Investigaciones Cientificas syndrome OORS oculootoradial syndrome radial Ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia IVIC syndrome https://rarediseases.info.nih.gov/diseases/269/ivic-syndrome MONDO:0007837 Johnson neuroectodermal syndrome is characterised by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism. https://github.com/monarch-initiative/mondo/issues/5588 Johnson neuroectodermal syndrome Johnson-McMillin syndrome alopecia-anosmia-conductive hearing loss-hypogonadism syndrome alopecia-anosmia-deafness-hypogonadism syndrome Aadh syndrome alopecia anosmia deafness hypogonadism syndrome Johnson neuroectodermal syndrome https://rarediseases.info.nih.gov/diseases/378/johnson-neuroectodermal-syndrome MONDO:0007838 A multiple congenital anomaly/intellectual disability contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. https://github.com/monarch-initiative/mondo/issues/4521 11q terminal deletion disorder Del(11)(q23.3) Del(11)(qter) Jacobsen syndrome Jacobsen syndrome, Isolated cases distal deletion 11q distal monosomy 11q monosomy 11qter telomeric deletion 11q JBS chromosome 11q deletion syndrome partial 11q monosomy syndrome Jacobsen syndrome MONDO:0007839 Aase-Smith syndrome type I is a very rare genetic disorder characterised by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. Aase-Smith I syndrome Aase-Smith syndrome Aase-Smith syndrome type 1 hydrocephalus-cleft palate-joint contractures syndrome Aase-Smith syndrome 1 Aase-Smith syndrome I Joint contractures with Other abnormalities Aase-Smith syndrome MONDO:0007840 internal carotid artery, spontaneous dissection of internal carotid artery, spontaneous dissection of MONDO:0007841 Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 Scott-Taor syndrome coxopodopatellar syndrome ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension ischiopatellar dysplasia small patella syndrome Coxo-podo-patellar syndrome ICPPS SPS congenital coxa vara, patella aplasia and tarsal synostosis ischiocoxopodopatellar syndrome patella aplasia, coxa vara, tarsal synostosis coxopodopatellar syndrome MONDO:0007842 A type of Ehlers-Danlos syndrome characterised by generalized joint hypermobility often complicated by dislocation of major joints, particularly the shoulder but in some cases the kneecap. Congenital hip dislocation has also been frequently reported. The syndrome has been described in several families. It is transmitted as an autosomal dominant trait, with high penetrance. https://github.com/monarch-initiative/mondo/issues/5634 EDS XI Ehlers-Danlos syndrome type 11, formerly Joint instability syndrome familial joint instability syndrome familial joint laxity joint laxity, familial EDS 11 (formerly) EDS Xi EDS Xi, formerly EDS11 EDS11, formerly Ehlers-Danlos syndrome, type 11 (formerly) Ehlers-Danlos syndrome, type Xi Ehlers-Danlos syndrome, type Xi, formerly articular hypermobility syndrome joint laxity, familial MONDO:0007843 Kabuki syndrome 1 Kabuki syndrome type 1 KABUK1 KABUKI syndrome 1 Kabuki make-Up syndrome Kabuki syndrome Niikawa-Kuroki syndrome Kabuki syndrome 1 MONDO:0007844 Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene. FGFR1 hypogonadotropic hypogonadism hypogonadotropic hypogonadism 2 with or without anosmia hypogonadotropic hypogonadism caused by mutation in FGFR1 HH2 KAL2 Kallmann syndrome 2 hypogonadotropic hypogonadism 2 with or without anosmia MONDO:0007845 Kaposi sarcoma, susceptibility to multicentric Castleman disease, susceptibility to multiple idiopathic pigmented hemangiosarcoma, susceptibility to susceptibility to Kaposi sarcoma Kaposi sarcoma, susceptibility to MONDO:0007846 KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay. https://github.com/monarch-initiative/mondo/issues/5588 KBG syndrome short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome KBGS macrodontia, intellectual disability, characteristic facies, short stature, and skeletal anomalies macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies short stature, characteristic facies, macrodontia, intellectual disability, and skeletal anomalies short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies KBG syndrome https://rarediseases.info.nih.gov/diseases/82/kbg-syndrome MONDO:0007847 keloid formation keloid formation MONDO:0007848 Hereditary keratitis is characterised by opacification and vascularisation of the cornea, often associated with macula hypoplasia. hereditary keratitis keratitis, autosomal dominant dominantly inherited keratitis keratitis, hereditary autosomal dominant keratitis MONDO:0007849 https://github.com/monarch-initiative/mondo/issues/4521 keratitis fugax hereditaria keratoendothelitis fugax hereditaria KEFH KERATOENDOTHELIITIS fugax hereditaria Keratoendotheliitis fugax hereditaria keratitis fugax hereditaria MONDO:0007850 Autosomal dominant form of KID syndrome. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 KID syndrome, autosomal dominant autosomal dominant KID syndrome keratitis-ichthyosis -deafness syndrome autosomal dominant keratitis-ichthyosis-deafness syndrome keratitis-ichthyosis-deafness syndrome, autosomal dominant autosomal dominant keratitis-ichthyosis-hearing loss syndrome MONDO:0007851 Any keratoconus in which the cause of the disease is a mutation in the VSX1 gene. VSX1 keratoconus (disease) keratoconus (disease) caused by mutation in VSX1 keratoconus 1 keratoconus type 1 KTCN1 keratoconus 1 MONDO:0007852 Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance. PPK-deafness syndrome palmoplantar hyperkeratosis-deafness syndrome palmoplantar hyperkeratosis-hearing loss syndrome palmoplantar keratoderma-hearing loss syndrome diffuse palmoplantar keratoderma with deafness (subtype) focal palmoplantar keratoderma with sensorineural deafness (subtype) hereditary palmoplantar keratoderma with deafness (subtype) keratoderma palmoplantar deafness keratoderma palmoplantar, with deafness keratoderma, palmoplantar, with deafness palmoplantar keratoderma and sensorineural deafness palmoplantar keratoderma-deafness syndrome MONDO:0007853 keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy Charcot-Marie-Tooth disease with palmoplantar keratoderma and nail dystrophy axonal neuropathy with palmoplantar keratoderma palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome MONDO:0007854 Keratolytic winter erythema is a rare epidermal disease, characterized by recurrent centrifugal palmoplantar peeling and erythema presenting seasonal variation (cold weather). Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. Episodes may be preceded by itch and hyperhidrosis. Skin biopsy reveals an epidermal spongiosis with clefting in the stratum corneum, followed by regrowth. Keratolytic winter erythema follows an autosomal dominant mode of transmission. Erythrokeratolysis hiemalis Oudtshoorn disease keratolytic winter erythema Erythrokeratolysis hiemalis ichthyosis KWE Oudtshoorn skin Oudtshoorn skin disease keratolytic WINTER erythema keratolytic winter erythema https://rarediseases.info.nih.gov/diseases/8275/keratolytic-winter-erythema MONDO:0007855 keratosis, familial actinic keratosis, familial actinic MONDO:0007856 An inherited condition characterized by palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and esophageal cancer may form after age 20. This condition is caused by a mutation in the RHBDF2 gene and is inherited in an autosomal dominant pattern. Bennion-Patterson syndrome Howell-Evans syndrome keratosis palmoplantaris-esophageal carcinoma syndrome palmoplantar hyperkeratosis-esophageal carcinoma syndrome palmoplantar keratoderma-esophageal carcinoma syndrome tylosis-oesophageal carcinoma syndrome Toc howel-Evans syndrome keratosis palmaris Et plantaris with esophageal cancer keratosis palmaris et plantaris with esophageal cancer keratosis palmoplantaris with esophageal cancer palmoplantar keratoderma with esophageal cancer tylosis - oesophageal carcinoma tylosis with esophageal cancer palmoplantar keratoderma-esophageal carcinoma syndrome https://rarediseases.info.nih.gov/diseases/3102/tylosis-with-esophageal-cancer MONDO:0007857 Keratosis palmaris et plantaris-clinodactyly syndrome is characterised by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant. palmoplantar keratoderma-clinodactyly syndrome keratosis palmaris ET plantaris with clinodactyly keratosis palmaris et plantaris-clinodactyly syndrome MONDO:0007858 Any punctate palmoplantar keratoderma in which the cause of the disease is a mutation in the AAGAB gene. https://github.com/monarch-initiative/mondo/issues/4521 AAGAB punctate palmoplantar keratoderma keratoderma, palmoplantar, punctate type IA palmoplantar keratoderma, punctate type 1A punctate palmoplantar keratoderma caused by mutation in AAGAB Kppp1 PPKP1A keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type keratosis palmoplantaris papulosa palmoplantar keratoderma, punctate type 1 palmoplantar keratoderma, punctate type IA punctate palmoplantar keratoderma type 1A palmoplantar keratoderma, punctate type 1A MONDO:0007859 https://github.com/monarch-initiative/mondo/issues/3108 https://github.com/monarch-initiative/mondo/issues/4521 keratosis palmoplantaris striata i, AD palmoplantar keratoderma i, striate, focal, or diffuse PPKS1 SPPK1 keratoderma, palmoplantar striate form 1 keratoderma, palmoplantar, striate form 1 keratosis palmoplantaris striata 1 palmoplantar keratoderma I, striate, focal, or diffuse striate palmoplantar keratoderma 1 palmoplantar keratoderma i, striate, focal, or diffuse MONDO:0007860 Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement. focal palmoplantar and gingival hyperkeratosis focal palmoplantar and gingival hyperkeratosis syndrome focal palmoplantar and oral mucosa hyperkeratosis keratosis focal palmoplantar gingival keratosis, focal palmoplantar and gingival focal palmoplantar and gingival keratoderma https://rarediseases.info.nih.gov/diseases/3098/focal-palmoplantar-and-gingival-keratoderma MONDO:0007861 Isolated cloverleaf skull syndrome is a form of craniosynostosis involving multiple sutures (coronal, lambdoidal, sagittal and metopic) characterized by a trilobular skull of varying severity (frontal towering and bossing, temporal bulging and a flat posterior skull), dysmorphic features (downslanting palpebral fissures, midface hypoplasia, and extreme proptosis) and that is complicated by hydrocephalus, cerebral venous hypertension, developmental delay/intellectual disability and hind brain herniation. isolated cloverleaf skull syndrome KLEEBLATTSCHAEDEL Kleeblattschadel Kleeblattschaedel deformity syndrome Kleeblattschaedel syndrome Kleeblattschaedel-deformity syndrome cloverleaf skull cloverleaf skull syndrome isolated cloverleaf skull syndrome https://rarediseases.info.nih.gov/diseases/3115/kleeblattschaedel-syndrome MONDO:0007862 Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin. Klein-Waardenburg syndrome WS3 Waardenburg syndrome type III Waardenburg syndrome with limb anomalies Waardenburg syndrome with upper limb anomalies Waardenburg syndrome, type 3 White forelock (poliosis) syndrome with multiple congenital malformations Waardenburg syndrome type 3 https://rarediseases.info.nih.gov/diseases/5523/waardenburg-syndrome-type-3 MONDO:0007863 Kleine-Levin syndrome (KLS) is a rare neurological disorder of unknown origin characterised by relapsing-remitting episodes of hypersomnia in association with cognitive and behavioural disturbances. Kleine-Levin syndrome Kleine Levin syndrome Kleine-LEVIN hibernation syndrome familial Kleine-Levin syndrome familial hibernation syndrome Kleine-Levin syndrome https://rarediseases.info.nih.gov/diseases/3117/kleine-levin-syndrome MONDO:0007864 A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5682 Klippel Trenaunay syndrome Klippel-Trenaunay syndrome Klippel-Trenaunay-Weber syndrome Klippel-Trenaunay-Weber syndrome, Isolated cases Klippel-Trénaunay syndrome Klippel-Trénaunay-Weber syndrome Weber-Klippel-Trenaunay angioosteohypertrophy syndrome haemangiectatic hypertrophy KTS Ktw syndrome angio-osteohypertrophy syndrome angioosteohypertrophic syndrome https://rarediseases.info.nih.gov/diseases/3122/klippel-trenaunay-syndrome MONDO:0007865 knuckle pads knuckle pads MONDO:0007866 Bart-Pumphrey syndrome knuckle pads, leukonychia, and sensorineural deafness knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome knuckle pads, leuconychia and sensorineural deafness knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome Bart-Pumphrey syndrome MONDO:0007867 https://github.com/monarch-initiative/mondo/issues/4069 nonsyndromic congenital nail disorder type 2 Koilonychia with leukonychia Koilonychia, hereditary NDNC2 congenital koilonychia familial koilonychia hereditary koilonychia nail disorder, nonsyndromic congenital, 2 spoon nails nonsyndromic congenital nail disorder 2 MONDO:0007868 A hyperekplexia that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32. HKPX1 hyperekplexia 1 hyperekplexia type 1 hyperekplexia, hereditary type 1 Kok disease Sthe Stiff-Man syndrome, congenital Stiff-Person syndrome, congenital Stiff-baby syndrome exaggerated startle reaction hyperekplexia, hereditary 1 startle disease, familial startle reaction, exaggerated hyperekplexia 1 MONDO:0007869 Kyrle disease is rare condition that affects the skin. People with this condition generally develop large papules with central keratin (a protein found in the skin, hair and nails) plugs throughout their body. These lesions are typically not painful but may cause severe itching. Although it can affect both men and women throughout life, the average age of onset is 30 years. The cause of the disease is currently unknown; however, it is often associated with certain conditions such as diabetes mellitus, kidney disease, liver abnormalities, and congestive heart failure. In some families, the condition appears to be inherited but an underlying genetic cause has not been identified. Treatment aims to address the associated signs and symptoms and any additional disease that may be present. Lesions often heal spontaneously but new ones continue to develop. Kyrle disease Kyrle's disease hyperkeratosis follicularis et parafollicularis in cutem penetrans Kyrle disease https://rarediseases.info.nih.gov/diseases/9738/kyrle-disease MONDO:0007870 labia minora, incomplete adhesion of labia minora, incomplete adhesion of MONDO:0007871 https://github.com/monarch-initiative/mondo/issues/4069 LCDD lacrimal duct defect lacrimal puncta, absence of nasolacrimal duct obstruction familial congenital nasolacrimal duct obstruction MONDO:0007872 Lacrimoauriculodentodigital (LADD) syndrome is a multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, apalsias or atresias of the salivary glands; dental anomalies and digital malformations. https://github.com/monarch-initiative/mondo/issues/4948 LADD syndrome Lacrimoauriculoradiodental syndrome lacrimoauriculodentodigital syndrome lard syndrome levy-Hollister syndrome LACRIMOAURICULODENTODIGITAL syndrome LADD Lacrimo-auriculo-dento-digital syndrome Lacrimoauriculodento-digital syndrome levy Hollister syndrome LADD syndrome MONDO:0007873 lactic acidosis, chronic adult form lactic acidosis, chronic adult form MONDO:0007874 Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability. https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5588 Langer-Giedion syndrome deletion 8q24.1 monosomy 8q24.1 trichorhinophalangeal dysplasia type II trichorhinophalangeal syndrome type 2 Giedion-Langer syndrome Langer Giedion syndrome TRPS 2 TRPS2 chromosome 8Q24.1 deletion syndrome trichorhinophalangeal syndrome, type 2 trichorhinophalangeal syndrome, type II trichorhinophalangeal syndrome type II MONDO:0007875 Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate. Larsen syndrome dominant Larsen syndrome LRS autosomal dominant Larsen syndrome Larsen syndrome https://rarediseases.info.nih.gov/diseases/6860/larsen-syndrome MONDO:0007876 Gerhardt syndrome familial vocal cord dysfunction laryngeal abductor paralysis Labd vocal cord dysfunction familial vocal cord dysfunction, familial Autosomal dominant based on information from Joanna. laryngeal abductor paralysis MONDO:0007877 LAP laryngeal adductor paralysis vocal cord dysfunction, adductor type laryngeal adductor paralysis MONDO:0007878 Increased collapsibility of the larynx. congenital laryngeal stridor laryngomalacia laryngomalacia congenital congenital laryngomalacia MONDO:0007879 A congenital malformation of the larynx in which there is failure of recanalization of the laryngotracheal tube during gestation. congenital atresia of larynx congenital atresia of the larynx laryngeal atresia congenital partial atresia of the larynx larynx, congenital partial atresia OF larynx atresia MONDO:0007880 Congenital laryngeal web is a rare malformation consisting of a membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords. https://github.com/monarch-initiative/mondo/issues/4069 Laryngeal web gay Feinmesser Cohen syndrome glottic web, congenital anterior laryngeal web, congenital heart disease and low stature laryngeal web, familial subglottic Bar subglottic bar, congenital heart disease and low stature subglottic web congenital laryngeal web https://rarediseases.info.nih.gov/diseases/2446/gay-feinmesser-cohen-syndrome MONDO:0007881 Any tooth agenesis in which the cause of the disease is a mutation in the WNT10A gene. https://github.com/monarch-initiative/mondo/issues/3293 WNT10A tooth agenesis tooth agenesis caused by mutation in WNT10A tooth agenesis, selective, 4 tooth agenesis, selective, type 4 STHAG4 lateral incisors, absence of lateral incisors, pegged or missing succedaneous teeth, agenesis of tooth agenesis, selective, 4, with or without ectodermal dysplasia tooth agenesis, selective, 4 MONDO:0007882 lattice degeneration of retina leading to retinal detachment lattice degeneration of retina leading to retinal detachment MONDO:0007883 lazy leukocyte syndrome periodic fever, immunodeficiency, and thrombocytopenia syndrome MONDO:0007884 leg ulcers, familial, of juvenile onset leg ulcers, familial, of juvenile onset MONDO:0007885 A hip region disease that is characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children. In a small percentage of cases, mutations in the COL2A1 gene were found to be responsible. https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/521 Calve - Perthes' disease Legg-Calve-Perthes disease Osteochondrosis of the capital femoral epiphysis Perthe's disease Perthes disease Pseudocoxalgia aseptic necrosis of the capital femoral epiphysis coxa plana juvenile osteochond-hip/pelvis juvenile osteochondrosis of hip and pelvis juvenile osteochondrosis of hip and/or pelvis osteochondritis of the capital femoral epiphysis osteochondrosis of Legg-Calve-Perthes pseudocoxalgia LCPD Lcp Legg-CALVE-Perthes disease Legg-Calve-Perthes symptom Legg-Calve-Perthes syndrome Legg-Calvé-Perthes disease Legg-Perthes disease osteochondritis deformans Legg-Calve-Perthes disease https://rarediseases.info.nih.gov/diseases/6874/legg-calve-perthes-disease MONDO:0007886 A benign smooth muscle neoplasm arising from the body of the uterus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. body of uterus fibroid body of uterus leiomyoma corpus uteri fibroid corpus uteri leiomyoma fibroid of body of uterus fibroid of corpus uteri fibroid of the body of uterus fibroid of the corpus uteri fibroid of the uterine body fibroid of the uterine corpus fibroid of uterine body fibroid of uterine corpus leiomyoma of body of uterus leiomyoma of corpus uteri leiomyoma of the body of uterus leiomyoma of the corpus uteri leiomyoma of the uterine body leiomyoma of the uterine corpus leiomyoma of uterine body leiomyoma of uterine corpus plexiform leiomyoma uterine body fibroid uterine body leiomyoma uterine corpus fibroid uterine corpus leiomyoma uterine corpus leiomyomata uterine fibroid UL leiomyoma, uterine uterine leiomyoma uterus fibroma uterine corpus leiomyoma MONDO:0007887 leiomyoma of vulva and esophagus esophagogastric and vulvar leiomyomatosis leiomyomatosis, esophagogastric and vulvar leiomyoma of vulva and esophagus https://rarediseases.info.nih.gov/diseases/10097/leiomyoma-of-vulva-and-esophagus MONDO:0007888 Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer. https://github.com/monarch-initiative/mondo/issues/4521 HLRCC MCUL Reed syndrome familial leiomyomatosis familial leiomyomatosis and renal cell cancer familial leiomyomatosis cutis et uteri familial leiomyomatosis with renal carcinoma familial multiple cutaneous leiomyomas hereditary leiomyomatosis hereditary leiomyomatosis and renal cell cancer hereditary leiomyomatosis and renal cell cancer syndrome hereditary leiomyomatosis and renal cell carcinoma hereditary leiomyomatosis with renal carcinoma hereditary multiple cutaneous leiomyomas leiomyomatosis and renal cell cancer multiple cutaneous and uterine leiomyomas LRCC Reed's syndrome leiomyoma, multiple cutaneous leiomyomatosis and renal cell cancer, hereditary leiomyomatosis familial multiple cutaneous and uterine leiomyomata multiple cutaneous and uterine leiomyomata 1, with or without renal cell carcinoma multiple cutaneous leiomyomata hereditary leiomyomatosis and renal cell cancer https://rarediseases.info.nih.gov/diseases/10096/hereditary-leiomyomatosis-and-renal-cell-cancer MONDO:0007890 lentiginosis, centrofacial neurodysraphic lentiginosis, Touraine type lentiginosis, centrofacial neurodysraphic MONDO:0007891 Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa. familial lentigines profusa familial multiple lentigines syndrome without systemic involvement lentiginosis profusa lentiginosis, diffuse lentiginosis, generalized lentiginosis, inherited patterned familial generalized lentiginosis MONDO:0007892 Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis. https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5588 Lenz-Majewski hyperostotic dwarfism LMHD Lenz Majewski hyperostotic dwarfism Lenz-Majewski hyperostotic dysplasia Lenz-Majewski syndrome hyperostotic dwarfism Lenz-Majewski type multiple congenital anomalies, intellectual disability and progressive skeletal sclerosis multiple congenital anomalies, mental retardation and progressive skeletal sclerosis Lenz-Majewski hyperostotic dwarfism https://rarediseases.info.nih.gov/diseases/3223/lenz-majewski-hyperostotic-dwarfism MONDO:0007893 A rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features. Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome Cardiomyopathic lentiginosis Gorlin syndrome II LEOPARD syndrome Noonan syndrome with multiple lentigines familial multiple lentigines syndrome generalized lentiginosis lentigines, electrocardiographic conduction defects, 0cular hypertelorism, pulmonary stenosis, abnormalities of the genitals, retarded Growth, deafness lentiginosis profusa syndrome progressive cardiomyopathic lentiginosis Moynahan syndrome lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, Deafnes Noonan syndrome with multiple lentigines MONDO:0007894 Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 Leri pleonosteosis leri pleonosteosis chromosome duplication syndrome Leri type pleonosteosis Leri's pleonosteosis chromosome 8q22.1 DUPLICATION syndrome pleonosteosis Leri type Leri pleonosteosis https://rarediseases.info.nih.gov/diseases/88/leri-pleonosteosis MONDO:0007895 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 PLSD-T Platyspondylic dysplasia, Torrance-Luton type Platyspondylic lethal skeletal dysplasia, Torrance type platyspondylic dysplasia, Torrance type platyspondylic skeletal dysplasia, Torrance type PLSDT Platyspondylic lethal skeletal dysplasia Torrance type Platyspondylic lethal skeletal dysplasia, Luton type lethal short-limbed Platyspondylic dwarfism Torrance type lethal short-limbed Platyspondylic dwarfism, Torrance type thanatophoric dysplasia Torrance variant thanatophoric dysplasia, Luton variant thanatophoric dysplasia, Torrance variant platyspondylic dysplasia, Torrance type MONDO:0007896 Acute monoblastic leukemia (AML-M5), is one of the most common subtypes of acute myeloid leukemia (AML) that is either comprised of more than 80% of monoblasts (AML-M5a) or 30-80% monoblasts with (pro)monocytic differentiation (AML-M5b). AML-M5 presents with asthenia, pallor, fever, and dizziness. Specific features of AML-M5 include hyperleukocytosis, propensity for extramedullary infiltrates, coagulation abnormalities including disseminated intravascular coagulation and neurological disorders. Leukemia cutis and gingival infiltration can also be seen. A characteristic translocation observed in AML-M5 is t(9;11). monocytic leukemia AML M5 acute monoblastic leukemia and acute monocytic leukemia acute monocytic leukemia acute monocytic leukemia (FAB M5B) acute monocytic leukemia (FAB M5b) acute monocytic leukemia without mention of remission acute monocytic leukemia, FAB M5 acute monocytic leukemia, morphology acute monocytic leukemia, morphology (morphologic abnormality) leukemia, monocytic, malignant monocytic leukemia, acute AML-M5 acute monoblastic leukemia acute monoblastic/monocytic leukemia acute myeloblastic leukemia type 5 leukemia, acute monocytic acute monocytic leukemia https://rarediseases.info.nih.gov/diseases/525/acute-monoblastic-leukemia MONDO:0007898 leukocyte nuclear appendages, hereditary prevalence of leukocyte nuclear appendages, hereditary prevalence of MONDO:0007899 A chronic inflammatory process affecting the skin. It is characterized by the presence of white, indurated plaques, epidermal atrophy, and fibrosis of the upper dermis. It usually appears in the vulva and penis. lichen sclerosus et atrophicus LSA lichen SCLEROSUS ET ATROPHICUS lichen sclerosis lichen sclerosis et atrophicus lichen sclerosus lichen sclerosus et atrophicus MONDO:0007900 Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the PLCD1 gene. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 PLCD1 inherited isolated nail anomaly inherited isolated nail anomaly caused by mutation in PLCD1 nail disorder, nonsyndromic congenital, 3, (leukonychia) nail disorder, nonsyndromic congenital, type 3 nonsyndromic congenital nail disorder type 3 Gorlin Bushkell Jensen syndrome NDNC3 leukonychia Striatus leukonychia punctata leukonychia totalis and/or partialis leukonychia totalis multiple sebaceous cysts renal calculi nail disorder, nonsyndromic congenital, 3 porcelain nails nonsyndromic congenital nail disorder 3 https://rarediseases.info.nih.gov/diseases/2555/gorlin-bushkell-jensen-syndrome MONDO:0007901 levator-medial rectus synkinesis oculomotor-levator synkinesis levator-medial rectus synkinesis MONDO:0007902 An instance of lichen planus that is caused by an inherited modification of the individual's genome. hereditary lichen planus lichen planus, familial lichen planus, familial MONDO:0007903 Any Li-Fraumeni syndrome in which the cause of the disease is a mutation in the TP53 gene. LFS3 Li-Fraumeni syndrome 1 Li-Fraumeni syndrome caused by mutation in TP53 Li-Fraumeni syndrome type 1 TP53 Li-Fraumeni syndrome LFS LFS1 Li-Fraumeni syndrome Li-Fraumeni syndrome 3 Li-Fraumeni-like syndrome Sbla syndrome sarcoma family syndrome of 51 and Fraumeni Li-Fraumeni syndrome 1 MONDO:0007904 Median nodule of the upper lip is a minor trait of the lip transmitted in an autosomal dominant fashion. LIP, MEDIAN NODULE of upper median nodule of the upper lip https://rarediseases.info.nih.gov/diseases/3440/median-nodule-of-the-upper-lip MONDO:0007905 lip, hamartomatous enlargement of Lower lip lip, hamartomatous MONDO:0007906 Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis. Dunnigan syndrome FPLD2 familial lipodystrophy of limbs and lower trunk familial partial lipodystrophy Dunnigan type familial partial lipodystrophy type 2 reverse partial lipodystrophy FPL2 lipodystrophy, familial partial, Dunnigan type lipodystrophy, familial partial, type 2 lipodystrophy, familial, of limbs and Lower trunk lipodystrophy, reverse partial familial partial lipodystrophy, Dunnigan type MONDO:0007907 lipoma of the conjunctiva lipoma of the conjunctiva MONDO:0007908 Multiple symmetric lipomatosis (MSL) is a rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures). Madelung disease Launois-Bensaude lipomatosis Launois-Bensaude's lipomatosis Madelung's neck cephalothoracic lipodystrophy cervical symmetrical lipomatosis familial benign cervical lipomatosis lipodystrophy, cephalothoracic lipomatosis, familial benign cervical multiple symmetric lipomatosis multiple symmetrical lipomatosis Launois-Bensaude syndrome MSL Madelung's disease benign symmetrical lipomatosis familial symmetric lipomatosis lipomatosis, multiple symmetric multiple symmetric lipomatosis https://rarediseases.info.nih.gov/diseases/6957/multiple-symmetric-lipomatosis MONDO:0007909 Familial multiple lipomatosis is a rare, benign, genetic skin disease characterized by numerous, painless, encapsulated lipomas located in the subcutaneous adipose tissue of the trunk and extremities, with relative sparing of the neck and shoulders. Association with gastroduodenal lipomatosis, brain anomalies or lipomatosis, and refractory epilepsy has been reported. lipoma lipomatosis, familial multiple lipomatosis, multiple familial multiple lipomatosis MONDO:0007910 lipoprotein types--Lt system lipoprotein types--Lt system MONDO:0007911 lipoprotein, variant of beta Beta-lipoprotein, Double lipoprotein, variant of beta MONDO:0007912 lithium transport lithium transport MONDO:0007913 LOW density lipoprotein, variation in molecular weight OF low density lipoprotein, variation in molecular weight of MONDO:0007914 lumbar stenosis, familial lumbar stenosis, familial MONDO:0007915 An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific. https://github.com/monarch-initiative/mondo/issues/4521 systemic lupus erythematosus (disease) SLE SLE - lupus erythematosus, systemic disseminated lupus erythematosus lupus erythematosus, systemic systemic lupus erythematosus systemic lupus erythematosus (disease) systemic lupus erythematosus susceptibility to systemic lupus erythematosus, susceptibility to excess LMW-DNA excess lymphocyte low molecular weight DNA lupus nephritis, susceptibility to systemic lupus erythematosus MONDO:0007916 Primary intestinal lymphangiectasia (PIL) is a rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing enteropathy), asthenia, diarrhea, lymphedema and failure to thrive in children. Waldmann disease Waldmann's disease familial Waldmann's disease (type) lymphangiectasia, intestinal primary intestinal lymphangiectasis primary intestinal lymphangiectasia https://rarediseases.info.nih.gov/diseases/7873/primary-intestinal-lymphangiectasia MONDO:0007917 Lymphedema-cerebral arteriovenous anomaly syndrome is characterised by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children. lymphedema and cerebral arteriovenous anomaly primary pulmonary hypertension, cerebrovascular malformation and lymphedema feet lymphedema-cerebral arteriovenous anomaly syndrome MONDO:0007918 Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability. MLCRD chorioretinal dysplasia-microcephaly-intellectual disability syndrome chorioretinal dysplasia-microcephaly-mental retardation syndrome lymphedema and retinal folds with ficrocephaly and microphthalmos lymphedema, microcephaly and chorioretinopathy syndrome microcephaly lymphedema chorioretinal dysplasia microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability microcephaly with or without chorioretinopathy, lymphedema, or mental retardation microcephaly, lymphedema, chorioretinal dysplasia syndrome Cdmmr syndrome MCLMR Mlcrd syndrome lymphedema and retinal Folds with microcephaly and microphthalmos lymphedema, microcephaly, chorioretinopathy syndrome microcephaly and chorioretinopathy with or without intellectual disability, autosomal dominant microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant microcephaly-lymphedema-chorioretinopathy syndrome microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability MONDO:0007919 Any hereditary lymphedema in which the cause of the disease is a mutation in the FLT4 gene. https://github.com/monarch-initiative/mondo/issues/2768 FLT4 hereditary lymphedema LMPH1A Milroy disease Nonne-Milroy disease Nonne-Milroy lymphedema Nonne-Milroy syndrome Nonne’s syndrome congenital hereditary lymphedema congenital primary lymphedema early onset lymphedema hereditary lymphedema 1 hereditary lymphedema caused by mutation in FLT4 hereditary lymphedema type I lymphedema, early-onset lymphedema, hereditary, 1A lymphedema, hereditary, type 1A primary congenital lymphedema lymphatic malformation 1 MONDO:0007920 A frequent form of late-onset, primary lymphedema characterized by lower limb lymphedema typically developing during puberty. LMPH2 Meige disease Meige lymphedema hereditary lymphedema type II late-onset lymphedema late-onset primary lymphedema lymphedema preacox lymphedema hereditary type 2 lymphedema praecox lymphedema, hereditary, II lymphedema, late-onset lymphatic malformation 5 MONDO:0007921 A very rare syndromic disorder characterized by the variable triad of characteristic yellow nails, chronic respiratory manifestations, and primary lymphedema. YNS lymphedema with yellow nails yellow nail syndrome Yns lymphedema and Yellow nails yellow nail syndrome https://rarediseases.info.nih.gov/diseases/184/yellow-nail-syndrome MONDO:0007922 Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations. lymphedema-distichiasis syndrome hereditary lymphedema-distichiasis syndrome (subtype) lymphedema with distichiasis lymphedema-distichiasis syndrome with renal disease and diabetes mellitus lymphedema-distichiasis syndrome https://rarediseases.info.nih.gov/diseases/333/lymphedema-distichiasis-syndrome MONDO:0007923 macrocephaly, benign familial Cole-Hughes syndrome benign familial macrocephaly benign familial megalencephaly macrocephaly, benign familial https://rarediseases.info.nih.gov/diseases/147/macrocephaly-benign-familial MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis. https://github.com/monarch-initiative/mondo/issues/5588 BRRS Bannayan syndrome Bannayan-Riley-Ruvalcaba syndrome Bannayan-Zonana syndrome Myhre-Riley-Smith syndrome RILEY-SMITH syndrome Ruvalcaba-MYHRE-SMITH syndrome macrocephaly with multiple lipomas and hemangiomas BZS RMSS Riley-Smith syndrome Ruvalcaba -Myhre-Smith syndrome Ruvalcaba-Myhre-Smith syndrome macrocephaly multiple lipomas and hemangiomata macrocephaly pseudopapilledema and multiple hemangiomas macrocephaly, multiple lipomas, and hemangiomata macrocephaly, pseudopapilledema, and multiple hemangiomata Bannayan-Riley-Ruvalcaba syndrome https://rarediseases.info.nih.gov/diseases/5887/bannayan-riley-ruvalcaba-syndrome MONDO:0007925 A myelodysplastic syndrome characterized by a deletion between bands q31 and 33 on chromosome 5. The number of blasts in the bone marrow and blood is <5%. The bone marrow is usually hypercellular or normocellular with increased number of often hypolobated megakaryocytes. The peripheral blood shows macrocytic anemia. This syndrome occurs predominantly but not exclusively in middle age to older women. The prognosis is good and transformation to acute leukemia is rare. (WHO, 2001) https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5268 5Q minus syndrome 5Q- syndrome 5q- syndrome 5q- syndrome, refractory macrocytic anemia due to 5q deletion chromosome 5q deletion syndrome macrocytic anemia, refractory, due to 5q deletion, somatic myelodysplastic syndrome associated with isolated del (5q) chromosome Abnormality myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality myelodysplastic syndrome with 5q deletion myelodysplastic syndrome with isolated del(5q) 5q deletion syndrome 5q syndrome MAR macrocytic Anemia, refractory, due to 5Q deletion megakaryocytes, unilobular nucleated refractory macrocytic anemia due to 5q deletion myelodysplastic syndrome associated with isolated del(5q) MONDO:0007927 macroglossia congenital macroglossia MONDO:0007930 A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material basis in heterozygous mutations in the GP1BA gene on chromosome 17p. https://github.com/monarch-initiative/mondo/issues/4521 BSSA2 Bernard-Soulier syndrome, type A2 (dominant) Bernard-Soulier syndrome, type A2, autosomal dominant Bernard-Soulier syndrome type A2 Bernard-Soulier syndrome, type A2, autosomal dominant MONDO:0007931 Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region. BEST1 retinopathy BMD BVMD Best disease Best macular dystrophy early-onset vitelliform macular dystrophy juvenile-onset vitelliform macular dystrophy macular degeneration, polymorphic vitelline macular dystrophy, vitelliform, type 2 polymorphic vitelline macular degeneration vitelliform macular dystrophy type 2 vitelliform macular dystrophy, early-onset vitelliform macular dystrophy, juvenile-onset vitelliform macular dystrophy, type 2 Best vitelliform macular dystrophy, multifocal VMD2 macular Degeneration, polymorphic vitelline macular dystrophy, vitelliform, 2 vitelliform macular dystrophy 2 https://rarediseases.info.nih.gov/diseases/10301/best1-retinopathy MONDO:0007932 An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22. ARMD2 age related macular degeneration type 2 macular Degeneration, age-related, type 2 macular Degeneration, Senile macular degeneration, age-related, 2 maculopathy, age-related, 2 age related macular degeneration 2 MONDO:0007933 VMD1 macular dystrophy, atypical vitelliform macular dystrophy, vitelliform, 1 vitelliform macular dystrophy, atypical vitelliform macular dystrophy 1 MONDO:0007934 Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bullBs eye configuration. https://github.com/monarch-initiative/mondo/issues/4521 retinitis pigmentosa 91 Mcdca macular dystrophy, benign concentric annular macular dystrophy, concentric annular maculopathy, bull's eye benign concentric annular macular dystrophy MONDO:0007935 An autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa. It is associated with a poor visual prognosis. DCMD autosomal dominant cystoid macular edema familial macular edema Mddc cystoid macular dystrophy macular dystrophy, dominant cystoid macular edema, cystoid cystoid macular edema MONDO:0007936 macular dystrophy, fenestrated sheen type macular dystrophy, fenestrated sheen type MONDO:0007937 Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed. FXYD2 familial primary hypomagnesemia FXYD2 primary hypomagnesemia HOMG2 familial primary hypomagnesemia caused by mutation in FXYD2 isolated autosomal dominant hypomagnesemia isolated renal magnesium wasting primary hypomagnesemia caused by mutation in FXYD2 renal hypomagnesemia type 2 autosomal dominant primary hypomagnesemia with hypocalciuria hypomagnesemia 2, renal magnesium loss, isolated renal magnesium wasting, renal renal hypomagnesemia 2 https://rarediseases.info.nih.gov/diseases/3350/renal-hypomagnesemia-2 MONDO:0007938 Sex reversal in an individual associated with a 9p24.3 deletion. https://github.com/monarch-initiative/mondo/issues/4521 46,XY Sex reversal type 4 46,XY sex reversal 4 46XY sex reversal 4, Isolated cases 46,XY SEX reversal 4 46,XY gonadal dysgenesis, partial or complete, with 9P24.3 deletion SRXY4 chromosome 9P24.3 deletion syndrome 46,XY sex reversal 4 MONDO:0007939 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 malignant hyperthermia susceptibility 2 malignant hyperthermia, susceptibility to, 2 malignant hyperthermia, susceptibility to, type 2 MHS2 Mhs2 malignant hyperpyrexia susceptibility type 2 malignant hyperthermia susceptibility type 2 malignant hyperthermia, susceptibility to, 2 https://rarediseases.info.nih.gov/diseases/3364/malignant-hyperthermia-susceptibility-type-2 MONDO:0007940 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 malignant hyperthermia susceptibility 3 malignant hyperthermia, susceptibility to, 3 malignant hyperthermia, susceptibility to, type 3 MHS3 Mhs3 malignant hyperpyrexia susceptibility type 3 malignant hyperthermia susceptibility type 3 malignant hyperthermia, susceptibility to, 3 https://rarediseases.info.nih.gov/diseases/3365/malignant-hyperthermia-susceptibility-type-3 MONDO:0007941 malocclusion due to protuberant upper front teeth malocclusion due to protuberant upper front teeth MONDO:0007942 Mammastatin Mammastatin MONDO:0007943 Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects. https://github.com/monarch-initiative/mondo/issues/4948 NAFD Nager acrofacial dysostosis acrofacial dysostosis 1, Nager type mandibulofacial dysostosis with preaxial limb anomalies preaxial acrodysostosis AFD AFD, Nager type AFD1 Nager acrofacial dysostosis syndrome Nager syndrome mandibulofacial dysostosis, Treacher Collins type, with limb anomalies preaxial acrofacial dysostosis preaxial manibulofacial dysostosis split hand deformity-mandibulofacial dysostosis Nager acrofacial dysostosis https://rarediseases.info.nih.gov/diseases/498/nager-acrofacial-dysostosis MONDO:0007944 Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the TCOF1 gene. https://github.com/monarch-initiative/mondo/issues/4948 TCOF1 Treacher-Collins syndrome Treacher Collins syndrome type 1 Treacher-Collins syndrome 1 Treacher-Collins syndrome caused by mutation in TCOF1 TCS1 TREACHER COLLINS syndrome 1 Treacher Collins syndrome Treacher Collins-Franceschetti syndrome mandibulofacial dysostosis Treacher Collins syndrome 1 MONDO:0007945 mannose 6-phosphate receptor recognition defect, Lebanese type phosphodiester glycoside deficiency mannose 6-phosphate receptor recognition defect, Lebanese type MONDO:0007946 Marcus-Gunn syndrome is characterised by ptosis associated with maxillopalpebral synkinesis. Marcus-Gunn phenomenon Marcus-Gunn syndrome jaw-blinking jaw-winking syndrome mandibulo-palpebral synkinesis-ptosis syndrome pterygoid-levator synkinesis Marcus Gunn phenomenon Marcus Gunn syndrome Maxillopalpebral synkinesis abnormal innervation syndrome of eyelid familial Marcus Gunn phenomenon (subtype) jaw-winking jaw-winking syndrome MONDO:0007947 A disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new (de novo) mutation. Treatment is based on the signs and symptoms in each person. https://github.com/monarch-initiative/mondo/issues/3155 https://github.com/monarch-initiative/mondo/issues/4948 Contractural arachnodactyly MFS MFS1 Marfan syndrome Marfan syndrome type 1 Marfan syndrome, type 1 Marfan's syndrome Marfan syndrome https://rarediseases.info.nih.gov/diseases/6975/marfan-syndrome MONDO:0007948 marfanoid hypermobility syndrome marfanoid hypermobility syndrome https://rarediseases.info.nih.gov/diseases/3387/marfanoid-hypermobility-syndrome MONDO:0007949 Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis. https://github.com/monarch-initiative/mondo/issues/4948 Marshall syndrome MRSHS deafness, myopia, cataract, saddle nose-Marshall type Marshall syndrome MONDO:0007950 A clonal myeloproliferative neoplasm characterized by the proliferation and accumulation of neoplastic mast cells in one or multiple organs or organ systems. It is a heterogeneous group of neoplasms, ranging from cutaneous proliferations which may regress spontaneously, to aggressive neoplasms associated with organ failure and short survival. Mast cell disease mast cell hyperplasia mastocytosis MAST cell disease urticaria pigmentosa mastocytosis MONDO:0007951 masticatory muscles, hypertrophy of masseter muscle Hypertrophy masticatory muscles, hypertrophy of MONDO:0007952 maxillofacial dysostosis maxillofacial dysostosis https://rarediseases.info.nih.gov/diseases/6991/maxillofacial-dysostosis MONDO:0007953 A rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex. Binder syndrome Maxillonasal dysostosis binder syndrome binder type maxillonasal dysplasia MAXILLONASAL dysplasia, BINDER type maxillonasal dysplasia Binder syndrome MONDO:0007955 A congenital pouch in the distal ileum. It may cause painless rectal bleeding and bowel obstruction. Meckel diverticulum Meckel's diverticulum persistent vitelline duct Meckel diverticulum MONDO:0007956 Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development. Pai syndrome median cleft of the upper lip-corpus callosum lipoma-cutaneous polyps syndrome cleft, MEDIAN, of upper LIP with polyps of facial skin and nasal mucosa cleft, Median, of upper lip with polyps of Facial skin and nasal mucosa median cleft of upper lip with polyps of facial skin and nasal mucosa Pai syndrome https://rarediseases.info.nih.gov/diseases/3439/median-cleft-of-upper-lip-with-polyps-of-facial-skin-and-nasal-mucosa MONDO:0007957 mediosternal depigmentation line mediosternal depigmentation line MONDO:0007958 An instance of thyroid medullary carcinoma that is caused by an inherited modification of the individual's genome. https://github.com/monarch-initiative/mondo/issues/4521 medullary thyroid carcinoma familial MTC familial medullary thyroid carcinoma hereditary medullary thyroid gland carcinoma hereditary thyroid medullary carcinoma thyroid carcinoma, familial medullary Fmtc MTC Mtc1 familial medullary thyroid carcinoma MONDO:0007959 A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity. https://github.com/monarch-initiative/mondo/issues/4521 brain medulloblastoma cerebellum embryonal neoplasm medulloblastoma medulloblastoma, autosomal recessive, autosomal dominant, somatic mutation medulloblastoma, desmoplastic, autosomal recessive, autosomal dominant, somatic mutation medulloblastoma, malignant medulloblastoma, somatic medulloblastomas CNS PNET CPNET MDB cerebellar medulloblastoma infratentorial primitive neuroectodermal tumor localized primitive neuroectodermal tumor medulloblastoma with extensive nodularity medulloblastoma, Desmoplastic medulloblastoma https://rarediseases.info.nih.gov/diseases/7005/medulloblastoma MONDO:0007961 megalencephaly, autosomal dominant megalencephaly, autosomal dominant MONDO:0007962 A condition in which a finger or toe is larger than normal size secondary to excessive growth of the anatomical structures or abnormal accumulation of substances. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5210 Megalodactyly macrodactyly, somatic, (3), cerebral cavernous malformations 4, somatic macrodactyly megalodactyly MONDO:0007963 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 melanoma, cutaneous malignant, 1 melanoma, cutaneous malignant, susceptibility to, 1 melanoma, malignant, somatic B-K Mole syndrome CMM1 dysplastic Nevus syndrome, hereditary familial atypical Mole-malignant melanoma syndrome melanoma, cutaneous malignant melanoma, familial melanoma, malignant melanoma, cutaneous malignant, susceptibility to, 1 MONDO:0007964 Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome. (Stedman, 25th ed) https://github.com/monarch-initiative/mondo/issues/4521 Atypical Mole syndrome B-K Mole syndrome dysplastic nevus syndrome familial dysplastic nevi melanoma, cutaneous malignant, 2 melanoma, cutaneous malignant, susceptibility to, 2 melanoma, cutaneous malignant, susceptibility to, type 2 CMM2 susceptibility to cutaneous malignant melanoma 2 melanoma, cutaneous malignant, susceptibility to, 2 MONDO:0007965 melanoma, malignant familial intraocular melanoma, malignant familial intraocular MONDO:0007966 https://github.com/monarch-initiative/mondo/issues/2656 https://github.com/monarch-initiative/mondo/issues/5511 susceptibility to uveal melanoma MONDO:0007967 Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma). melanoma and neural system tumor syndrome melanoma-astrocytoma syndrome melanoma astrocytoma syndrome melanoma and neural system tumor syndrome MONDO:0007968 melanoma tumor antigen Gp90 Class 1 unique tumor antigen of melanoma melanoma tumor antigen Gp90 MONDO:0007969 The Melkersson-Rosenthal syndrome is a rare disorder characterized by a triad of recurrent orofacial swelling, relapsing facial paralysis and fissured tongue and onset in childhood or early adolescence. It has an estimated incidence of 8/10,000. The etiology is unknown but hereditary predisposition is suspected. Melkersson's syndrome Melkersson-Rosenthal syndrome cheilitis granulomatosa of Mescher-Melkersson-Rosenthal MRS Melkersson syndrome Mros cheilitis Granulomatosa Melkersson-Rosenthal syndrome https://rarediseases.info.nih.gov/diseases/7010/melkersson-rosenthal-syndrome MONDO:0007970 Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 melorheostosis, isolated, somatic mosaic Mel melorheostosis, isolated melorheostosis https://rarediseases.info.nih.gov/diseases/9474/melorheostosis MONDO:0007971 Delayed membranous cranial ossification is a rare, genetic primary bone dysplasia characterized by absent ossification of calvarial bones at birth and characteristic facial dysmorphisms (frontal bossing, hypertelorism, downward-slanting palpebral fissures, proptosis, flat nasal bridge, low-set ears, midface retrusion). Patients present a soft skull at birth which, over time, progressively ossifies and in adulthood typically results in a deformed skull (with brachycephaly and prominent occiput). No other skeletal abnormalities are associated and patients have normal cognitive and motor development. Gonzales-del Angel syndrome membranous cranial ossification, delayed delayed membranous cranial ossification https://rarediseases.info.nih.gov/diseases/1727/delayed-membranous-cranial-ossification MONDO:0007972 A disease of the inner ear (labyrinth) that is characterized by fluctuating sensorineural hearing loss; tinnitus; episodic vertigo; and aural fullness. It is the most common form of endolymphatic hydrops. Meniere disease Mnire's vertigo otogenic vertigo Meniere's disease Meniere disease MONDO:0007973 mental and growth retardation with amblyopia mental and growth retardation with amblyopia MONDO:0007974 An autosomal dominant condition caused by mutation(s) in the MBD5 gene, encoding methyl-CpG-binding domain protein 5. It is characterized by severe developmental and cognitive delay, short stature, craniofacial dysmorphism, and seizures. MBD5 autosomal dominant non-syndromic intellectual disability MRD1 autosomal dominant intellectual disability 1 autosomal dominant mental retardation 1 autosomal dominant non-syndromic intellectual disability caused by mutation in MBD5 intellectual disability, autosomal dominant 1 intellectual disability, autosomal dominant type 1 mental retardation, autosomal dominant type 1 autosomal dominant non-syndromic intellectual disability 1 chromosome 2Q23.1 deletion syndrome mental retardation, autosomal dominant 1 intellectual disability, autosomal dominant 1 MONDO:0007975 meralgia paraesthetica, familial meralgia paraesthetica, familial MONDO:0007976 mesomelic dwarfism of hypoplastic tibia and radius type mesomelic dwarfism of hypoplastic tibia and radius type https://rarediseases.info.nih.gov/diseases/7313/mesomelic-dwarfism-of-hypoplastic-tibia-and-radius-type MONDO:0007977 Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. https://github.com/monarch-initiative/mondo/issues/4948 Kantaputra mesomelic dysplasia MDK mesomelic dysplasia, Kantaputra type mesomelic dysplasia, Thai type MMDK Mdk mesomelic dysplasia Kantaputra type mesomelic dysplasia Thai type mesomelic dysplasia with ankle carpal and tarsal synostosis mesomelic dysplasia with ankle, carpal, and tarsal synostosis mesomelic dysplasia, Kantaputra type https://rarediseases.info.nih.gov/diseases/3074/mesomelic-dysplasia-kantaputra-type MONDO:0007979 Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions. https://github.com/monarch-initiative/mondo/issues/4948 metachondromatosis METACHONDROMATOSIS METCDS metachondromatosis https://rarediseases.info.nih.gov/diseases/3560/metachondromatosis MONDO:0007980 metachromasia of fibroblasts metachromasia of fibroblasts MONDO:0007981 metachromatic leukodystrophy, adult-onset, with normal arylsulfatase A metachromatic leukodystrophy, adult-onset, with normal arylsulfatase type A metachromatic leukodystrophy, adult-onset, with normal arylsulfatase A MONDO:0007982 Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia. https://github.com/monarch-initiative/mondo/issues/4948 Jansen disease Jansen metaphyseal chondrodysplasia Jansen metaphyseal dysostosis metaphyseal chondrodysplasia, Jansen type murk Jansen type metaphyseal chondrodysplasia Jansen type metaphyseal chondrodysplasia Jansen's metaphyseal chondrodysplasia metaphyseal chondrodysplasia murk Jansen type metaphyseal chondrodysplasia, murk Jansen type metaphyseal chondrodysplasia, Jansen type MONDO:0007983 Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait. https://github.com/monarch-initiative/mondo/issues/4948 Japanese type spondylometaphyseal dysplasia Schmid type metaphyseal dysplasia MCDS metaphyseal chondrodysplasia Schmid type metaphyseal chondrodysplasia, Schmid type spondylometaphyseal dysplasia, Japanese type Schmid metaphyseal chondrodysplasia MONDO:0007984 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait. https://github.com/monarch-initiative/mondo/issues/4948 MDMHB metaphyseal dysplasia maxillary hypoplasia brachydactyly metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome https://rarediseases.info.nih.gov/diseases/3568/metaphyseal-dysplasia-maxillary-hypoplasia-brachydactyly MONDO:0007985 metatarsus varus, type I metatarsus varus, type 1 MONDO:0007986 Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood. https://github.com/monarch-initiative/mondo/issues/4948 Metatropic dwarfism metatropic dysplasia Metatropic dysplasia, nonlethal dominant metatropic dysplasia https://rarediseases.info.nih.gov/diseases/3571/metatropic-dysplasia MONDO:0007987 Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root). https://github.com/monarch-initiative/mondo/issues/4948 Kniest dysplasia Kniest dysplasia https://rarediseases.info.nih.gov/diseases/6841/kniest-dysplasia MONDO:0007988 Autosomal dominant form of microcephaly (disease). https://github.com/monarch-initiative/mondo/issues/3738 autosomal dominant primary microcephaly microcephaly (disease), autosomal dominant autosomal dominant microcephaly microcephaly autosomal dominant microcephaly with autosomal dominant inheritance microcephaly, autosomal dominant autosomal dominant primary microcephaly https://rarediseases.info.nih.gov/diseases/3605/microcephaly-autosomal-dominant MONDO:0007989 Congenital microcoria is a rare autosomal dominant ophthalmological disease caused by maldevelopment of the dilator muscle of the pupil that is characterized by small pupils (<2 mm in diameter) from birth, peripheral iris hypopigmentation and transillumination defects leading to errors of refraction (myopia, astigmatism) and sometimes juvenile open angle glaucoma. https://github.com/monarch-initiative/mondo/issues/4069 congenital miosis Mcor chromosome 13Q32 deletion syndrome microcoria, congenital miosis, congenital pinhole pupils congenital microcoria https://rarediseases.info.nih.gov/diseases/3635/microcoria-congenital MONDO:0007990 CCSF CSCSC Kunze-Riehm syndrome circumferential skin creases, Kunze type congenital circumferential skin folds Kunze Riehm syndrome Michelin tire baby syndrome skin creases, multiple benign ring-shaped, of limbs multiple benign circumferential skin creases on limbs MONDO:0007991 Microcephaly-deafness-intellectual disability syndrome is characterised by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant. https://github.com/monarch-initiative/mondo/issues/5588 Kawashima-Tsuji syndrome Kawashima Tsuji syndrome microcephaly deafness syndrome microcephaly-deafness syndrome syndrome of microcephaly, deafness/malformed ears, intellectual disability and peculiar facies syndrome of microcephaly, deafness/malformed ears, mental retardation and peculiar facies microcephaly-deafness-intellectual disability syndrome MONDO:0007992 Microcornea-glaucoma-absent frontal sinuses syndrome is characterised by microcornea, glaucoma and absent frontal sinuses. Less 10 cases have been described so far. The mode of transmission appears to be autosomal dominant. hereditary microcornea, glaucoma, and absent frontal sinuses microcornea, glaucoma, and absent frontal sinuses microcornea-glaucoma-absent frontal sinuses syndrome MONDO:0007993 This syndrome is characterised by the association of microgastria with a limb reduction defect. MLRD congenital microgastria and limb reduction defects microgastria limb reduction defect microgastria-limb reduction defects association microgastria-limb reduction defect syndrome MONDO:0007994 micromelic bone dysplasia with cloverleaf skull micromelic bone dysplasia with cloverleaf skull MONDO:0007995 MCOPCT1 microphthalmia, isolated, with cataract 1 cataract, congenital, with microphthalmia congenital cataract with microphthalmia microphthalmia with cataract 1 microphthalmia, isolated, with cataract 1 MONDO:0007996 microphthalmia, isolated, with corectopia MCOPCR microphthalmia and corectopia microphthalmia with myopia and corectopia microphthalmia, isolated, with corectopia MONDO:0007997 microspherophakia with hernia microspherophakia with hernia https://rarediseases.info.nih.gov/diseases/9462/microspherophakia-with-hernia MONDO:0007998 Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. Verloes-Van Maldergem-de Marneffe syndrome Verloes Van Maldergem Marneffe syndrome dominantly inherited bone dysplasia with severe eye involvement microspherophakia-metaphyseal dysplasia microspherophakia-metaphyseal dysplasia syndrome MONDO:0007999 A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene. HPE2 SIX3 holoprosencephaly holoprosencephaly 2 holoprosencephaly caused by mutation in SIX3 holoprosencephaly type 2 holoprosencephaly 2 MONDO:0008000 https://github.com/monarch-initiative/mondo/issues/4521 migraine with or without aura, susceptibility to, 1 migraine with or without aura, susceptibility to, type 1 migraine without aura, susceptibility to migraine, resistance to migraine, susceptibility to Mgau Mgr1 migraine migraine with or without aura, susceptibility to, 1 MONDO:0008001 milia, multiple eruptive MEM milia, multiple eruptive MONDO:0008002 Any familial congenital mirror movements in which the cause of the disease is a mutation in the DCC gene. https://github.com/monarch-initiative/mondo/issues/5219 DCC familial congenital mirror movements familial congenital mirror movements caused by mutation in DCC mirror movements 1 mirror movements type 1 MRMV1 bimanual synergia mirror movements 1 and/Or agenesis of the corpus callosum mirror movements, congenital mirror movements 1 MONDO:0008003 Autosomal dominant form of progressive external ophthalmoplegia. adPEO progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 1 progressive external ophthalmoplegia, autosomal dominant PEOA1 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 autosomal dominant progressive external ophthalmoplegia MONDO:0008004 An instance of mitral valve prolapse (disease) that is caused by an inherited modification of the individual's genome. hereditary mitral valve prolapse (disease) MVP mitral valve prolapse, familial mitral valve prolapse, familial, autosomal dominant familial mitral valve prolapse MONDO:0008005 Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance. https://github.com/monarch-initiative/mondo/issues/4948 Forney syndrome Forney-Robinson-Pascoe syndrome cardiospondylocarpofacial syndrome mitral regurgitation-deafness-skeletal anomalies syndrome CSCF Forney Robinson Pascoe syndrome congenital heart disease, deafness, and skeletal malformations mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones cardiospondylocarpofacial syndrome MONDO:0008006 Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies. https://github.com/monarch-initiative/mondo/issues/4521 Mobius syndrome Moebius congenital oculofacial paralysis Moebius syndrome, Isolated cases Möbius syndrome congenital facial diplegia oromandibular-limb hypogenesis spectrum MBS Moebius sequence Moebius syndrome absence or underdevelopment of the 6th and 7th cranial nerves congenital facial diplegia syndrome congenital oculofacial paralysis Mobius syndrome MONDO:0008007 Dental ankylosis is a rare disorder characterized by the fusion of the tooth to the bone, preventing both eruption and orthodontic movement. ankylosis (disease) of calcareous tooth ankylosis of teeth ankylosis of tooth calcareous tooth ankylosis (disease) abnormal fusion of dental cementum with alveolar bone dental ankylosis molar 1 reinclusion molar I reinclusion permanent molars, secondary retention OF secondary retention of permanent molars tooth ankylosis MONDO:0008008 MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype. macrocephaly-obesity-mental disability-ocular abnormalities syndrome macrosomia-obesity-macrocephaly-ocular abnormalities syndrome momo syndrome macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus) macrosomia, obesity, macrocephaly, and ocular abnormalities macrosomia, obesity, macrocephaly, ocular abnormalities MOMO syndrome https://rarediseases.info.nih.gov/diseases/178/momo-syndrome MONDO:0008009 Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis. monilethrix moniliform hair syndrome MNLIX nodose hair monilethrix https://rarediseases.info.nih.gov/diseases/93/monilethrix MONDO:0008010 antigen defined by monoclonal antibody Aj9 Msk1 antigen defined by monoclonal antibody Aj9 MONDO:0008011 antigen defined by monoclonal antibody T87 Msk2 antigen defined by monoclonal antibody T87 MONDO:0008012 Monophalangy of great toe Monophalangy of great toe MONDO:0008013 Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis. https://github.com/monarch-initiative/mondo/issues/3664 9p deletion 9p deletion syndrome 9p monosomy 9p syndrome 9p- syndrome Alfi syndrome chromosome 9p deletion deletion 9p monosomy 9p monosomy 9p syndrome monosomy type 9p partial deletion of chromosome 9p partial deletion of the short arm of chromosome 9 partial deletion of the short arm of chromosome type 9 partial monosomy 9p partial monosomy of chromosome 9p partial monosomy of the short arm of chromosome 9 chromosome 9p deletion syndrome MONDO:0008014 nondisjunction mixoploidy, familial mosaicism, chromosomal nondisjunction MONDO:0008015 A sensation of discomfort that results from a discordant relationship between visualized movement and any movement sensed by the vestibular system, which is characterized by dizziness, nausea, and vomiting. motion sickness travel sickness motion sickness MONDO:0008016 Dutch-Kentucky syndrome Hecht syndrome Hecht-Beals syndrome distal arthrogryposis type 7 trismus-pseudocamptodactyly syndrome DA7 arthrogryposis distal type 7 arthrogryposis, distal, type 7 mouth, inability to open completely, and short finger-flexor tendons trismus-pseudocamptodactyly syndrome MONDO:0008017 A condition that affects the skin, hair, mucosa (areas ofthe body that are lined with mucus), gums (gingiva), eyes, nose and lungs. Symptoms typically begin in infancy and may include development of cataracts (clouding of the eye lens); blindness; hair loss (alopecia); abnormal changes to the perineum (the area between the anus and external genitalia); and small, skin-colored bumps (keratosis pilaris). Terminal lung disease has also been reported. The cause of HMD is thought to be an abnormality in desmosomes and gap junctions, which are structures involved in cell-to-cell contact. HMD typically follows autosomal dominant inheritance, but has occurred sporadically (in an individual who has no family history of the condition). Treatment typically focuses on individual symptoms of the condition. HMD Urban-Schosser-Spohn syndrome mucoepithelial dysplasia, hereditary hereditary mucoepithelial dysplasia https://rarediseases.info.nih.gov/diseases/5427/hereditary-mucoepithelial-dysplasia MONDO:0008018 Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma. Muir-Torre syndrome multiple keratoacanthoma, Muir-Torre type MRTES MUIR-Torre syndrome cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas cutaneous sebaceous neoplasms and keratoacanthomas, multiple, with gastrointestinal and Other carcinomas Muir-Torre syndrome MONDO:0008019 Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence of underdevelopment of the uterus, and sometimes absence of underdevelopment of the vagina. Mullerian duct failure and hyperandrogenism Müllerian duct failure and hyperandrogenism WNT4 deficiency mullerian aplasia and hyperandrogenism Müllerian aplasia and hyperandrogenism mullerian aplasia and hyperandrogenism MONDO:0008020 multiple exostoses with spastic tetraparesis Hamann Zanki schimrigk syndrome spasticity multiple exostoses multiple exostoses with spastic tetraparesis MONDO:0008021 Any Cowden disease in which the cause of the disease is a mutation in the PTEN gene. https://github.com/monarch-initiative/mondo/issues/4521 Cowden disease caused by mutation in PTEN Cowden syndrome 1 Cowden syndrome type 1 Lhermitte-Duclos syndrome PTEN Cowden disease CS CWS1 Lhermitte-Duclos disease Proteus-like syndrome cerebellar granule cell Hypertrophy and megalencephaly cerebelloparenchymal disorder 6 dysplastic gangliocytoma of the cerebellum multiple hamartoma syndrome Cowden syndrome 1 MONDO:0008022 muscle cramps, familial muscle cramps, familial MONDO:0008023 This disorder is characterized by muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus. Furukawa-Takagi-Nakao syndrome muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome https://rarediseases.info.nih.gov/diseases/2417/muscular-atrophy-ataxia-retinitis-pigmentosa-and-diabetes-mellitus MONDO:0008024 Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the SLC5A7 gene. SLC5A7 neuronopathy, distal hereditary motor neuronopathy, distal hereditary motor caused by mutation in SLC5A7 Dhmn7A Dhmnvp HMN 7A HMN7A Harper-Young myopathy neuronopathy, distal hereditary motor, type VIIA neuropathy, distal hereditary motor, type 7A spinal muscular atrophy, distal, with vocal cord paralysis neuronopathy, distal hereditary motor, type 7A MONDO:0008025 Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB8 gene. HSPB8 neuronopathy, distal hereditary motor neuronopathy, distal hereditary motor caused by mutation in HSPB8 Charcot-Marie-Tooth disease, spinal, 2A HMN 2A HMN2A neuronopathy, distal hereditary motor, type IIA neuropathy, distal hereditary motor, type 2A spinal muscular atrophy, distal, adult, autosomal dominant, 2A neuronopathy, distal hereditary motor, type 2A MONDO:0008026 https://github.com/monarch-initiative/mondo/issues/4521 Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures SMALED1 spinal muscular atrophy, lower extremity-predominant 1, AD Kugelberg-Welander syndrome, autosomal dominant Sma-led spinal muscular atrophy, LOWER extremity-predominant, 1, autosomal dominant spinal muscular atrophy, childhood, proximal, autosomal dominant spinal muscular atrophy, juvenile, proximal, autosomal dominant autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures MONDO:0008027 muscular atrophy, malignant neurogenic muscular atrophy, malignant neurogenic MONDO:0008028 muscular dystrophy, Barnes type muscular dystrophy, Barnes type MONDO:0008029 A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles. Bethlem myopathy type 1 benign autosomal dominant myopathy benign congenital muscular dystrophy BTHLM1 Bethlem myopathy 1 Editor note: consider separating type 1 form Bethlem myopathy MONDO:0008030 Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the FRG1 gene. FMD FSHD facioscapulohumeral muscular dystrophy FRG1 facioscapulohumeral muscular dystrophy facioscapulohumeral muscular dystrophy 1 facioscapulohumeral muscular dystrophy caused by mutation in FRG1 facioscapulohumeral muscular dystrophy type 1 muscular dystrophy, facioscapulohumeral, type 1A FSHD1 FSHD1A FSHMD1A Landouzy-Dejerine muscular dystrophy Landouzy-Dejerine muscular dystrophy facioscapulohumeral muscular dystrophy, infantile, included facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles, included facioscapulohumeral muscular dystrophy 1A facioscapulohumeral muscular dystrophy, infantile muscular dystrophy, facioscapulohumeral muscular dystrophy, facioscapulohumeral, type 1 facioscapulohumeral muscular dystrophy 1 https://rarediseases.info.nih.gov/diseases/9941/facioscapulohumeral-muscular-dystrophy MONDO:0008031 Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the SMCHD1 gene. https://github.com/monarch-initiative/mondo/issues/4521 SMCHD1 facioscapulohumeral muscular dystrophy facioscapulohumeral muscular dystrophy 2 facioscapulohumeral muscular dystrophy caused by mutation in SMCHD1 facioscapulohumeral muscular dystrophy type 2 fascioscapulohumeral muscular dystrophy 2, digenic, digenic dominant FSHD2 Fshd2, digenic facioscapulohumeral muscular dystrophy 2, digenic muscular dystrophy, facioscapulohumeral, type 1B muscular dystrophy, facioscapulohumeral, type 2 facioscapulohumeral muscular dystrophy 2 MONDO:0008034 muscular dystrophy, pseudohypertrophic, with Internalized capillaries muscular dystrophy, pseudohypertrophic, with Internalized capillaries MONDO:0008035 https://github.com/monarch-initiative/mondo/issues/4069 muscular hypoplasia, congenital universal, of Krabbe muscular hypoplasia, congenital universal, of Krabbe MONDO:0008036 myasthenia, limb-girdle, autoimmune myasthenia gravis, limb-girdle myasthenia, limb-girdle, autoimmune MONDO:0008037 myelinated optic nerve fibers myelinated optic nerve fibers MONDO:0008038 A rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia. https://github.com/monarch-initiative/mondo/issues/5654 ataxia-pancytopenia syndrome myelocerebellar disorder ATXPC ataxia-pancytopenia syndrome MONDO:0008039 Tropical spastic paraparesis is a chronic systemic immune-mediated inflammatory myeloneuropathy, more frequently reported in women than in men, that usually presents in adulthood with slowly progressive spastic paraparesis of the lower limbs, bladder and bowel dysfunction, and sensory disturbances in the lower extremities (e.g. paresthesia and dysesthesia) and that is associated with a human T-cell lymphotropic virus type 1 (HTLV-1) infection. HTLV-1-associated myelopathy/tropical spastic paraparesis HTLV-associated myelopathy Human T-lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis Human T-lymphotropic virus type-1-associated myelopathy/tropical spastic paraparesis TSP ham/TSP tropical spastic paralysis tropical spastic paraplegia HTLV-1 associated myelopathy/tropical spastic paraparesis Human T-cell leukemia virus type 1 associated myelopathy/tropical spastic paraparesis familial spastic paraparesis, HTLV-1-associated ham myelopathy, HTLV-1-associated tropical spastic paraparesis (formerly) tropical spastic paraparesis MONDO:0008040 A myeloid proliferation occurring in newborns with Down syndrome. It is clinically and morphologically indistinguishable from acute myeloid leukemia and is associated with GATA1 mutations. The blasts display morphologic and immunophenotypic features of megakaryocytic lineage. In the majority of patients the myeloid proliferation undergoes spontaneous remission. https://github.com/monarch-initiative/mondo/issues/4521 transient myeloproliferative syndrome (disease) MST TAM TMD Transient abnormal myelopoiesis associated with Down syndrome leukemia, transient, of Down syndrome transient abnormal myelopoiesis transient leukemia transient leurkemia of Down syndrome transient myeloproliferative disease transient myeloproliferative disorder transient myeloproliferative syndrome transient myeloproliferative syndrome (disease) Mst leukemia, transient myeloproliferative syndrome, transient transient myeloproliferative syndrome MONDO:0008041 myoclonic epilepsy, Hartung type myoclonic epilepsy, Hartung type MONDO:0008043 This syndrome is characterised by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. myoclonus cerebellar ataxia deafness myoclonus, cerebellar ataxia, and deafness myoclonus-cerebellar ataxia-deafness syndrome MONDO:0008044 Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the SGCE gene. https://github.com/monarch-initiative/mondo/issues/4521 SGCE myoclonus-dystonia syndrome alcohol-responsive dystonia dystonia-11, myoclonic myoclonic dystonia 11 myoclonic dystonia type 11 myoclonus-dystonia syndrome caused by mutation in SGCE DYT11 dystonia 11, myoclonic dystonia, alcohol-responsive myoclonic dystonia myoclonus, hereditary essential myoclonus-dystonia syndrome myoclonic dystonia 11 MONDO:0008045 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus. Jankovic-Rivera syndrome hereditary myoclonus-progressive distal muscular atrophy syndrome Jankovic Rivera syndrome SMAPME hereditary myoclonus and progressive distal muscular atrophy myoclonus hereditary progressive distal muscular atrophy myoclonus, hereditary, with progressive distal muscular atrophy spinal muscular atrophy with progressive myoclonic epilepsy spinal muscular atrophy-progressive myoclonic epilepsy syndrome MONDO:0008046 Autosomal dominant myoglobinuria is a rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997. myoglobinuria, autosomal dominant autosomal dominant myoglobinuria MONDO:0008047 Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia. https://github.com/monarch-initiative/mondo/issues/4521 KCNA1 hereditary episodic ataxia acetazolamide-responsive periodic ataxia continuous muscle fiber activity episodic ataxia with myokymia episodic ataxia/myokymia syndrome familial paroxysmal kinesigenic ataxia and continuous myokymia hereditary episodic ataxia caused by mutation in KCNA1 hereditary paroxysmal ataxia with neuromyotonia EA1 Isaacs-Mertens syndrome ataxia, episodic, with myokymia continuous muscle fiber activity, hereditary episodic ataxia, type 1 myokymia 1 myokymia 1 with or without hypomagnesemia myokymia with periodic ataxia paroxysmal ataxia with neuromyotonia, hereditary episodic ataxia type 1 MONDO:0008048 Autosomal dominant centronuclear myopathy (AD-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. https://github.com/monarch-initiative/mondo/issues/4521 AD-CNM autosomal dominant centronuclear myopathy centronuclear myopathy 1 centronuclear myopathy, autosomal dominant centronuclear myopathy, autosomal, modifier of myopathy, centronuclear, type 1 CNM1 DNM2-related centronuclear myopathy myopathy, centronuclear, 1 myopathy, centronuclear, autosomal dominant myotubular myopathy, autosomal dominant autosomal dominant centronuclear myopathy https://rarediseases.info.nih.gov/diseases/12719/autosomal-dominant-centronuclear-myopathy MONDO:0008049 myopathy, distal, infantile-onset myopathy, distal, infantile-onset MONDO:0008050 Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course. Gowers disease Laing distal myopathy Laing early-onset distal myopathy MPD1 MYH7-related skeletal myopathy distal myopathy type 1 myopathy, distal, type 1 myosin storage myopathy myopathy distal, type 1 myopathy, distal, 1 myopathy, distal, early-onset, autosomal dominant myopathy, late distal hereditary MYH7-related skeletal myopathy MONDO:0008051 Tubular aggregate myopathy is a disorder that affects the skeletal muscles. Signs and symptoms typically begin in childhood and worsen over time. The leg muscles are most often affected, but the arm muscles may also be involved. Symptoms include muscle pain, cramping, weakness or stiffness; and exercise-induced muscle fatigue. Affected individuals may have an unusual walking style (gait) or difficulty running, climbing stairs, or getting up from a squatting position. Some individuals develop contractures. This condition may be caused by mutations in the STIM1 or ORAI1 genes. It is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has also been reported. myopathy, tubular aggregate, type 1 tubular aggregate myopathy TAM1 myopathy, tubular aggregate, 1 tubular aggregate myopathy https://rarediseases.info.nih.gov/diseases/3884/tubular-aggregate-myopathy MONDO:0008052 myopathy with storage of glycoproteins and Glycosaminoglycans myopathy with storage of glycoproteins and Glycosaminoglycans MONDO:0008053 MYP2 myopia 2, autosomal dominant myopia 2, autosomal dominant MONDO:0008054 Juvenile dermatomyositis (JDM) is the early-onset form of dermatomyositis (DM), a systemic, autoimmune inflammatory muscle disorder, characterized by proximal muscle weakness, evocative skin lesion, and systemic manifestations. childhood dermatomyositis inflammation of myoseptum juvenile DM juvenile dermatomyositis myoseptum inflammation myoseptumitis JDM JPM childhood type dermatomyositis juvenile myositis myopathy, familial idiopathic inflammatory myositis juvenile dermatomyositis https://rarediseases.info.nih.gov/diseases/6805/juvenile-dermatomyositis MONDO:0008055 https://github.com/monarch-initiative/mondo/issues/4521 Thomsen and Becker disease Thomsen disease Thomsen's disease congenital myotonia, autosomal dominant form myotonia congenita, autosomal dominant myotonia congenita, dominant myotonia Levior myotonia congenita, autosomal dominant MONDO:0008056 Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness. DM1 DMPK myotonic dystrophy MD1 Steinert disease Steinert myotonic dystrophy syndrome Steinert syndrome dystrophia myotonica myotonic dystrophy caused by mutation in DMPK myotonic dystrophy of Steinert myotonic dystrophy type 1 Steinert myotonic dystrophy Steinert's disease dystrophia myotonica 1 dystrophia myotonica type 1 myotonic dystrophy 1 myotonic dystrophy type 1 MONDO:0008057 Any Carney complex in which the cause of the disease is a mutation in the PRKAR1A gene. Carney complex caused by mutation in PRKAR1A Carney complex, type 1 PRKAR1A Carney complex CNC1 Carney Myxoma-endocrine Complex Carney syndrome lamb syndrome myxoma, spotty pigmentation, and endocrine overactivity name syndrome Carney complex, type 1 MONDO:0008058 Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated. myotonic myopathy with cylindrical spirals cylindrical spirals myopathy https://rarediseases.info.nih.gov/diseases/11906/cylindrical-spirals-myopathy MONDO:0008059 Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth. NFJ syndrome Naegeli syndrome Naegeli-Franceschetti-Jadassohn syndrome NAEGELI syndrome NAEGELI-Franceschetti-Jadassohn syndrome NFJS Nfj syndrome reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy Naegeli-Franceschetti-Jadassohn syndrome MONDO:0008060 Nail dysplasia is an idiopathic nail dystrophy, beginning in early childhood, and characterised by excessive longitudinal striations and loss of nail luster affecting all 20 nails. https://github.com/monarch-initiative/mondo/issues/4069 FZD6 inherited isolated nail anomaly inherited isolated nail anomaly caused by mutation in FZD6 nail disorder, nonsyndromic congenital, type 10 nonsyndromic congenital nail disorder 10 nonsyndromic congenital nail disorder type 1 nonsyndromic congenital nail disorder type 10 onychodystrophy totalis twenty-nail dystrophy NDNC1 NDNC10 autosomal dominant nail dysplasia autosomal recessive nail dysplasia claw-Shaped nails idiopathic trachyonychia nail Growth nail disorder, nonsyndromic congenital 1 nail disorder, nonsyndromic congenital, 1 nail disorder, nonsyndromic congenital, 10 onychauxis, hyponychia, and onycholysis onychodystrophy totalis, isolated sandpaper nails trachyonychia twenty nail dystrophy nonsyndromic congenital nail disorder 1 MONDO:0008061 A rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies. https://github.com/monarch-initiative/mondo/issues/4948 Fong disease NPS 1 NPS1 Turner-Kieser syndrome Turner-Kiser syndrome hereditary Osteo-onychodysplasia hereditary onychoostedysplasia iliac horn syndrome nail patella syndrome nail-patella syndrome onychoosteodysplasia osteo-onychodysplasia NPS arthro-onychodysplasia nail-patella syndrome https://rarediseases.info.nih.gov/diseases/7160/nail-patella-syndrome MONDO:0008062 A rare disorder characterized by sudden and transient episodes of loss of muscle tone. It often follows an experience of intense emotions. It is seen in patients with narcolepsy. HCRT narcolepsy narcolepsy 1 narcolepsy caused by mutation in HCRT narcolepsy type 1 NRCLP1 cataplexy narcoleptic syndrome 1 narcolepsy 1 MONDO:0008063 nasal alar collapse, bilateral nasal alar collapse, bilateral MONDO:0008064 nasal bones, absence of nasal bones, absence of MONDO:0008065 nasal groove, familial transverse nasal groove, familial transverse MONDO:0008066 nasal hyperpigmentation, familial transverse nasal hyperpigmentation, familial transverse MONDO:0008067 https://github.com/monarch-initiative/mondo/issues/4882 nasopharyngeal carcinoma, susceptibility to, 2 nasopharyngeal carcinoma, susceptibility to, type 2 NPCA2 Npca2 nasopharyngeal carcinoma, susceptibility to, 2 MONDO:0008069 necrotizing encephalomyelopathy, subacute, of Leigh, adult Leigh syndrome, adult necrotizing encephalomyelopathy, subacute, of Leigh, adult MONDO:0008070 An inherited myopathy caused by mutations in the ACTA1 gene, encoding actin, alpha skeletal muscle. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, typically involving proximal muscles, the face, bulbar and respiratory muscles. ACTA1 nemaline myopathy NEM3 nemaline myopathy 3 nemaline myopathy 3, autosomal dominant or recessive nemaline myopathy caused by mutation in ACTA1 nemaline myopathy type 3 myopathy, actin, congenital, with Excess of thin myofilaments myopathy, actin, congenital, with cores nemaline myopathy 3, with intranuclear rods nemaline myopathy 3 MONDO:0008071 https://github.com/monarch-initiative/mondo/issues/4521 nephropathy-hypertension RFH1 nephritis, familial, without deafness or ocular defect nephropathy, familial renal failure, adult-onset renal failure, progressive, with hypertension autosomal dominant progressive nephropathy with hypertension MONDO:0008072 https://github.com/monarch-initiative/mondo/issues/4882 IGAN1 IgA nephropathy, susceptibility to, 1 Igan berger disease glomerulonephritis, IgA nephritis, IgA type IgA nephropathy, susceptibility to, 1 MONDO:0008073 A rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age. https://github.com/monarch-initiative/mondo/issues/1880 https://github.com/monarch-initiative/mondo/issues/4444 https://github.com/monarch-initiative/mondo/issues/4521 familial juvenile gouty nephropathy familial nephropathy with gout gouty nephropathy, familial juvenile hyperuricemic nephropathy, familial juvenile nephropathy, familial, with gout ADTKD-UMOD FJHN type 1 HNFJ1 UMOD familial juvenile hyperuricemic nephropathy UMOD-associated FJHN UMOD-associated familial juvenile hyperuricemic nephropathy UMOD-related ADTKD UMOD-related kidney disease autosomal dominant medullary cystic kidney disease type 2 autosomal dominant medullary cystic kidney disease with hyperuricemia autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD familial juvenile hyperuricemic nephropathy caused by mutation in UMOD glomerulocystic kidney disease with hyperuricemia and isosthenuria hyperuricemic nephropathy, familial juvenile, 1 hyperuricemic nephropathy, familial juvenile, type 1 medullary cystic kidney disease 2 medullary cystic kidney disease type 2 medullary cystic kidney disease type II tubulointerstitial kidney disease, autosomal dominant, 1 uromodulin storage disease uromodulin-associated kidney disease ADMCKD2 MCKD2 UMOD-related autosomal dominant tubulointerstitial kidney disease familial juvenile hyperuricaemic nephropathy medullary cystic kidney disease 2, autosomal dominant familial juvenile hyperuricemic nephropathy type 1 https://rarediseases.info.nih.gov/diseases/6806/familial-juvenile-hyperuricaemic-nephropathy MONDO:0008075 The least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium. NF3 Neurinomatosis Schwannomatosis neurilemmomatosis neurofibromatosis type 3 schwannomatosis congenital cutaneous neurilemmomatosis neurilemmomatosis congenital cutaneous neurilemmomatosis, congenital cutaneous neurinoma schwannomatosis MONDO:0008076 An autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm. amyotrophy, hereditary neuralgic amyotrophy, hereditary neuralgic, with predilection for brachial plexus brachial plexus neuropathy, hereditary hereditary brachial plexus neuropathy hereditary neuralgic amyotrophy neuritis with brachial predilection HNA neuralgic amyotrophy amyotrophic neuralgia MONDO:0008078 neurofibromatosis, familial spinal Fsnf neurofibromatosis, familial spinal MONDO:0008079 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome Npdc syndrome duodenal carcinoid syndrome neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome MONDO:0008080 neurofibromatosis, type III, mixed central and peripheral NF3A Nf 3 neurofibromas, palmar cutaneous neurofibromatosis, type III, Riccardi type neurofibromatosis, type III, of Riccardi neurofibromatosis, type III, mixed central and peripheral MONDO:0008081 neurofibromatosis type 4 neurofibromatosis type IV neurofibromatosis, type IV, of Riccardi type IV neurofibromatosis of Riccardi NF4 Nf 4 neurofibromatosis, atypical neurofibromatosis, type IV, of RICCARDI neurofibromatosis, variant form(S) of neurofibromatosis, type IV, of Riccardi MONDO:0008082 Multiple endocrine neoplasia 2B (MEN2B) syndrome is a rare aggressive form of MEN2 characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal ganglioneuroma, and marfanoid habitus. https://github.com/monarch-initiative/mondo/issues/4521 MEN2B Wagenmann-Froboese syndrome men 2B men IIB men type 2B men type IIB mucosal neuroma syndrome multiple endocrine adenomatosis type IIB multiple endocrine neoplasia IIB multiple endocrine neoplasia type 2B multiple endocrine neoplasia type 3 multiple endocrine neoplasia type IIB multiple endocrine neoplasia type III multiple endocrine neoplasia, type 3 multiple endocrine neoplasia, type III Neuromata, mucosal, with endocrine tumors mucosal Neuroma syndrome multiple endocrine neoplasia, type 2B multiple endocrine neoplasia, type 3 (formerly) multiple endocrine neoplasia, type IIB multiple endocrine neoplasia, type III, formerly multiple endocrine neoplasia type 2B https://rarediseases.info.nih.gov/diseases/10225/multiple-endocrine-neoplasia-type-2b MONDO:0008083 A condition associated with mutation(s) in the DNAJC5 gene, encoding dnaJ homolog subfamily C member 5. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments. https://github.com/monarch-initiative/mondo/issues/4521 CLN4 CLN4B disease autosomal dominant Kufs disease autosomal dominant neuronal ceroid lipofuscinosis 4B ceroid lipofuscinosis, neuronal, 4 (Kufs type) ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant neuronal ceroid lipofuscinosis 4 parry type neuronal ceroid lipofuscinosis 4B neuronal ceroid lipofuscinosis type 4B neuronal ceroid lipofuscinosis, parry type CLN4B Kuf's disease type B Kuf's disease, autosomal dominant Kufs disease, autosomal dominant adult neuronal ceroid lipofuscinosis 4B ceroid lipofuscinosis, neuronal, 4B, autosomal dominant ceroid lipofuscinosis, neuronal, parry type ceroid lipofuscinosis, neuronal, 4 (Kufs type) MONDO:0008084 neuropathy, congenital, with arthrogryposis multiplex congenital non-progressive peripheral neuropathy with arthrogryposis multiplex neuropathy, congenital, with arthrogryposis multiplex https://rarediseases.info.nih.gov/diseases/10086/neuropathy-congenital-with-arthrogryposis-multiplex MONDO:0008086 An axonal form of hereditary motor and sensory neuropathy distinguished by prominent early sensory loss and later positive sensory phenomena, caused by mutations in SPTLC1. HSAN1A SPTLC1 hereditary sensory and autonomic neuropathy type 1 hereditary sensory and autonomic neuropathy type 1 caused by mutation in SPTLC1 hereditary sensory and autonomic neuropathy type IA HSAN 1A HSN 1A hereditary sensory and autonomic neuropathy type 1A neuropathy, hereditary sensory and autonomic, type IA neuropathy, hereditary sensory radicular, autosomal dominant, type 1A neuropathy, hereditary sensory, type 1A Mechanism: The mutations alter amino acid selectivity of the serine palmitoyltransferase enzyme, leading to condensation of palmitate with alanine and glycine, in addition to serine, and resulting in the accumulation of two atypical neurotoxic deoxysphingoid bases (Penno et al. 2010). neuropathy, hereditary sensory and autonomic, type 1A MONDO:0008087 Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities. https://github.com/monarch-initiative/mondo/issues/4521 HNPP Tomaculous neuropathy current pressure-sensitive neuropathy familial recurrent polyneuropathy hereditary liability to pressure palsies hereditary neuropathy with liability to pressure palsies heterozygous microdeletion 17p11.2p12 neuropathy, recurrent, with pressure palsies potato-grubbing palsy tomaculous neuropathy tulip-bulb digger's palsy hereditary neuropathy with liability to pressure palsy neuropathy, hereditary, with liability to pressure palsies polyneuropathy, familial recurrent hereditary neuropathy with liability to pressure palsies MONDO:0008088 neuropathy, with paraprotein in serum, cerebrospinal fluid and urine neuropathy, with paraprotein in serum, cerebrospinal fluid and urine MONDO:0008089 neutropenia, chronic familial chronic familial neutropenia leukopenia benign familial leukopenia, benign familial neutropenia chronic familial neutropenia, chronic familial https://rarediseases.info.nih.gov/diseases/3983/neutropenia-chronic-familial MONDO:0008090 A hematologic disorder caused by a mutation in the ELANE (ELA2) gene; clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever. https://github.com/monarch-initiative/mondo/issues/4521 CH CN cyclic agranulocytosis cyclic hematopoiesis cyclical neutropenia dysplasia, myelocytic periodic neutropenia, cyclic neutropenia, periodic periodic neutropenia cyclic neutropenia neutropenia cyclic cyclic hematopoiesis MONDO:0008092 A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has material basis in heterozygous mutation in the CSF3R gene on chromosome 1p34. neutrophilia, hereditary hereditary neutrophilia MONDO:0008093 A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed. https://github.com/monarch-initiative/mondo/issues/4521 Epidermal Nevus epidermal nevus, somatic nevus sebaceous or woolly hair nevus, somatic nevus, epidermal nevus, epidermal, somatic nonepidermolytic keratinocytic nevus Nevus sebaceous Nevus, Keratinocytic, nonepidermolytic Nevus, woolly hair nevus, epidermal MONDO:0008094 A congenital vascular malformation in the skin (birthmark) characterized by the presence of dilated capillaries. The affected area of the skin is flat and reddish-purplish in color. https://github.com/monarch-initiative/mondo/issues/4521 Nevus flammeus Salmon patch Nevus capillary malformations, congenital, 1, somatic, mosaic familial multiple port-wine stains port wine Nevus port wine birthmark port wine stain port wine stain of skin port wine stain of the skin port wine type hemangioma port-wine stain of skin CMC capillary malformations capillary malformations, congenital nevi flammei, familial multiple port-wine stain port-wine stain familial multiple familial multiple nevi flammei MONDO:0008095 A capillary vascular anomaly that is characterized by hypopigmented macules. nevus anemicus (disease) Nevus anemicus anemicus Nevus nevus anemicus (disease) NEVUS anemicus nevus anemicus MONDO:0008096 nevus flammeus of nape of neck Unna Nevus erythema nuchae nevus flammeus of nape of neck MONDO:0008097 Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement). https://github.com/monarch-initiative/mondo/issues/4521 Nevus sebaceous of Jadassohn Nevus sebaceus of Jadassohn Nevus sebaceus syndrome Schimmelpenning syndrome Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic Solomon syndrome linear sebaceous Nevus organoid Nevus organoid nevus syndrome Epidermal Nevus syndrome, formerly JNP Jadassohn Nevus phakomatosis Jadassohn nevus phakomatosis SCHIMMELPENNING-FEUERSTEIN-MIMS syndrome SFM SFM syndrome Schimmelpenning Feuerstein Mims syndrome Sfm syndrome epidermal nevus syndrome linear sebaceous Nevus syndrome organoid Nevus phakomatosis organoid nevus phakomatosis sebaceous Nevus syndrome, linear sebaceous nevus syndrome linear linear nevus sebaceous syndrome https://rarediseases.info.nih.gov/diseases/10291/linear-nevus-sebaceous-syndrome MONDO:0008098 https://github.com/monarch-initiative/mondo/issues/4948 Nievergelt syndrome mesomelic dwarfism Nievergelt type mesomelic dysplasia, Nievergelt type radioulnar synostosis and a typical rhomboid shape of the tibia and fibula mesomelic dwarfism, Nievergelt type MONDO:0008099 Any congenital stationary night blindness in which the cause of the disease is a mutation in the PDE6B gene. https://github.com/monarch-initiative/mondo/issues/4069 CSNBAD2 PDE6B congenital stationary night blindness Rambusch type congenital stationary night blindness congenital stationary night blindness autosomal dominant type 2 congenital stationary night blindness caused by mutation in PDE6B night blindness, congenital stationary, autosomal dominant type 2 night blindness, congenital stationary, Rambusch type night blindness, congenital stationary, autosomal dominant 2 congenital stationary night blindness autosomal dominant 2 MONDO:0008100 nipples inverted Mammillae Invertitae nipples inverted MONDO:0008101 Familial supernumerary nipples is a rare breast malformation characterized by the presence, in various members of a single family, of one or more nipple(s) and/or their related tissue, in addition to the normal bilateral chest nipples. The anomaly is usually situated along the embryonic milk line, from axillae to inguinal regions, but other locations are also possible. Association with dental abnormalities, Becker nevus, renal or underlying breast tissue malignancy and genitourinary malformations has been reported. isolated polythelia accessory nipples nipples, supernumerary polymastia polythelia, familial familial supernumerary nipples MONDO:0008102 Any sick sinus syndrome in which the cause of the disease is a mutation in the HCN4 gene. HCN4 sick sinus syndrome sick sinus syndrome 2, autosomal dominant sick sinus syndrome caused by mutation in HCN4 SSS2 Sss, autosomal dominant atrial fibrillation with Bradyarrhythmia sick sinus syndrome 2 sick sinus syndrome 2 with or without Cardiac noncompaction and/Or ascending aorta dilation sinus bradycardia syndrome, familial, autosomal dominant sinus node disease, familial, autosomal dominant sick sinus syndrome 2, autosomal dominant MONDO:0008103 noduli Cutanei, multiple, with urinary tract abnormalities noduli Cutanei, multiple, with urinary tract abnormalities MONDO:0008104 Noonan syndrome caused by mutations in the PTPN11 gene. https://github.com/monarch-initiative/mondo/issues/2554 NS1 Noonan syndrome 1 Noonan syndrome type 1 Male Turner syndrome Noonan syndrome Turner phenotype with normal karyotype female pseudo-Turner syndrome pterygium colli syndrome Noonan syndrome 1 MONDO:0008105 nose, anomalous shape of potato Nose nose, anomalous shape of MONDO:0008106 https://github.com/monarch-initiative/mondo/issues/4069 NYS2 NYSTAGMUS 2, congenital, autosomal dominant Nystagmus congenital, motor 2 Nystagmus, congenital motor, 2 nystagmus 2, congenital, autosomal dominant MONDO:0008107 nystagmus, hereditary vertical congenital hereditary vertical nystagmus hereditary vertical nystagmus nystagmus, hereditary vertical https://rarediseases.info.nih.gov/diseases/9604/nystagmus-hereditary-vertical MONDO:0008108 Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual disability and is typically characterized by the triad of eye, central nervous system and skin malformations. Delleman syndrome Delleman-Oorthuys syndrome Leichtman-Wood-Rohn syndrome OCCS oculocerebrocutaneous syndrome orbital cyst with cerebral and focal dermal malformations Delleman Oorthuys syndrome OCC syndrome oculo-cerebro-cutaneous syndrome oculocerebrocutaneous syndrome https://rarediseases.info.nih.gov/diseases/106/oculocerebrocutaneous-syndrome MONDO:0008109 Ocular cicatricial pemphigoid (OCP) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders) that affects the eyes. In the early stages, people with OCPgenerally experience chronic or relapsing conjunctivitis that is often characterized by tearing, irritation, burning, and/or mucus drainage. If left untreated, OCP can progress to severe conjunctiva scarring and vision loss. Involvement of other mucosal sites and the skin may also occur in OCP. The exact underlying cause is currently unknown. The treatment of OCP aims to slow disease progression and prevent complications. This usually involves long-term use of medications called immunomodulators which help regulate or normalize the immune system. ocular cicatricial pemphigoid OCP cicatricial pemphigoid, ocular pemphigoid, ocular cicatricial ocular cicatricial pemphigoid https://rarediseases.info.nih.gov/diseases/8759/ocular-cicatricial-pemphigoid MONDO:0008111 Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities. https://github.com/monarch-initiative/mondo/issues/4948 Meyer-Schwickerath syndrome ODDD syndrome oculodentodigital dysplasia oculodentoosseous dysplasia odd syndrome ODDD oculo-dento-digital dysplasia oculo-dento-digital syndrome oculodentodigital syndrome oculodentodigital dysplasia https://rarediseases.info.nih.gov/diseases/7239/oculodentodigital-dysplasia MONDO:0008113 Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males. BRSS Schilbach-Rott syndrome hypotelorism-cleft palate-hypospadias syndrome blepharofacioskeletal syndrome cleft palate, hypotelorism, and hypospadias hypotelorism cleft palate hypospadias ocular hypotelorism, submucosal cleft palate, and hypospadias Schilbach-Rott syndrome https://rarediseases.info.nih.gov/diseases/2930/hypotelorism-cleft-palate-hypospadias MONDO:0008114 A disorder characterized by the presence of persistent and recurrent irrational thoughts (obsessions), resulting in marked anxiety and repetitive excessive behaviors (compulsions) as a way to try to decrease that anxiety. https://github.com/monarch-initiative/mondo/issues/4521 Anancastic neurosis obsessive compulsive disorder obsessive-compulsive disorder obsessive-compulsive disorder, susceptibility to OCD obsessive-compulsive disorder MONDO:0008115 Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies. https://github.com/monarch-initiative/mondo/issues/4948 Brunner-Winter syndrome type 1 FGLDS1 FS1 Feingold syndrome caused by mutation in MYCN Feingold syndrome type 1 MMT type 1 MODED syndrome type 1 MYCN Feingold syndrome ODED syndrome type 1 digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1 microcephaly-digital anomalies-normal intelligence syndrome type 1 microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1 microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1 oculo-digito-esophageal-duodenal syndrome type 1 Feingold syndrome Feingold syndrome 1 Mmt syndrome Oded syndrome digital anomalies with short palpebral fissures and atresia of esophagus or duodenum microcephaly and digital abnormalities with normal intelligence microcephaly, intellectual disability, and tracheoesophageal fistula syndrome microcephaly, mental retardation, and tracheoesophageal fistula syndrome microcephaly-oculo-digito-esophageal-duodenal syndrome oculodigitoesophagoduodenal syndrome Feingold syndrome type 1 MONDO:0008116 Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness. OPMD muscular dystrophy, oculopharyngeal oculopharyngeal muscular dystrophy oculopharyngeal muscular dystrophy https://rarediseases.info.nih.gov/diseases/7245/oculopharyngeal-muscular-dystrophy MONDO:0008118 Odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia. boder syndrome Odontomatosis (multiple odontomas) with dysphagia odontoma dysphagia syndrome odontoma-dysphagia syndrome odontomatosis-aortae esophagus stenosis syndrome MONDO:0008119 Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities. ATXN1 autosomal dominant cerebellar ataxia type I Sca1 autosomal dominant cerebellar ataxia type I caused by mutation in ATXN1 spinocerebellar ataxia type 1 Menzel type OPCA OPCA 1 OPCA 4 OPCA1 OPCA4 Schut-haymaker type OPCA cerebelloparenchymal disorder 1 olivopontocerebellar atrophy 1 olivopontocerebellar atrophy 4 spinocerebellar ataxia 1 spinocerebellar atrophy 1 spinocerebellar ataxia type 1 MONDO:0008120 Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness. https://github.com/monarch-initiative/mondo/issues/5763 2023-04-01 ATXN7 autosomal dominant cerebellar ataxia type II SCA7 ataxia with pigmentary retinopathy autosomal dominant cerebellar ataxia type II caused by mutation in ATXN7 cerebellar syndrome-pigmentary maculopathy syndrome spinocerebellar ataxia type 7 ADCA, type II Adca, type 2 OPCA 3 OPCA III OPCA with macular Degeneration and external ophthalmoplegia OPCA with retinal Degeneration OPCA3 autosomal dominant cerebellar ataxia, type 2 olivopontocerebellar atrophy 3 spinocerebellar ataxia 7 Reason: duplicate. This will be merged with MONDO:0016163 autosomal dominant cerebellar ataxia type II spinocerebellar ataxia type 7 MONDO:0008121 onychogryposis, pedal, with keratosis plantaris and coarse hair onychogryposis, pedal, with keratosis plantaris and coarse hair MONDO:0008123 Autosomal dominant form of omodysplasia. https://github.com/monarch-initiative/mondo/issues/4948 omodysplasia, autosomal dominant OMOD2 omodysplasia 2 autosomal dominant omodysplasia MONDO:0008124 https://github.com/monarch-initiative/mondo/issues/4521 omphalocele due to duplication of 1p31.3, isolated cases omphalocele, autosomal chromosome 1P31 Duplication syndrome paraomphalocele type - epigastric - defect in the cephalic fold type - hypogastric - defect in the caudal fold omphalocele, autosomal MONDO:0008125 https://github.com/monarch-initiative/mondo/issues/4069 nonsyndromic congenital nail disorder type 5 NDNC5 nail disorder, nonsyndromic congenital, 5 onycholysis, hereditary distal onycholysis, partial, with scleronychia nonsyndromic congenital nail disorder 5 MONDO:0008127 Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. OMM syndrome Pillay syndrome ophthalmomandibulomelic dysplasia Ophthalmo-mandibulo-melic dysplasia ophthalmomandibulomelic dysplasia MONDO:0008128 ophthalmoplegia, familial static external ophthalmoplegia, nonprogressive, congenital hereditary ophthalmoplegia, familial static MONDO:0008129 ophthalmoplegia, familial total, with iris transillumination ophthalmoplegia, familial total, with iris transillumination MONDO:0008130 https://github.com/monarch-initiative/mondo/issues/5588 Levic-Stefanovic-Nikolic syndrome ophthalmoplegia-intellectual disability-lingua scrotalis syndrome Levic Stefanovic Nikolic syndrome ophthalmoplegia, progressive, with scrotal tongue and mental deficiency ophthalmoplegia-intellectual disability-lingua scrotalis syndrome https://rarediseases.info.nih.gov/diseases/3236/levic-stefanovic-nikolic-syndrome MONDO:0008131 optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant MONDO:0008132 optic atrophy with demyelinating disease of CNS optic atrophy with demyelinating disease of CNS MONDO:0008133 OPA3, autosomal dominant autosomal dominant optic atrophy type 3 optic atrophy 3 OPA3 optic atrophy 3 with cataract optic atrophy 3, autosomal dominant optic atrophy and cataract, autosomal dominant optic atrophy, cataract, and neurologic disorder optic atrophy 3 https://rarediseases.info.nih.gov/diseases/10203/autosomal-dominant-optic-atrophy-and-cataract MONDO:0008134 One of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss during the first decade of life, associated with optic disc pallor, visual field and color vision defects. Kjer optic atrophy autosomal dominant optic atrophy, Kjer type optic atrophy type 1 Kjer-type optic atrophy OAK OPA1 optic atrophy 1 optic atrophy, Kjer type optic atrophy, juvenile autosomal dominant optic atrophy, classic form MONDO:0008135 optic atrophy 13 with retinal and foveal abnormalities optic atrophy with negative Electroretinograms optic atrophy 13 with retinal and foveal abnormalities MONDO:0008136 https://github.com/monarch-initiative/mondo/issues/4521 optic nerve hypoplasia familial bilateral optic nerve hypoplasia isolated optic nerve hypoplasia/aplasia optic nerve aplasia, bilateral optic nerve hypoplasia, bilateral optic nerve hypoplasia, familial bilateral isolated optic nerve hypoplasia MONDO:0008137 Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993. https://github.com/monarch-initiative/mondo/issues/5588 Figuera syndrome OFD10 oral-facial-digital syndrome type 10 orofaciodigital syndrome X orofaciodigital syndrome type 10 orofaciodigital syndrome type X orofaciodigital syndrome with fibular aplasia OFD syndrome 10 Ofds 10 oral facial digital syndrome 10 oral facial digital syndrome type 10 oral-Facial-digital syndrome with fibular aplasia oral-Facial-digital syndrome, type 10 oral-facial-digital syndrome 10 orofaciodigital syndrome 10 orofaciodigital syndrome type Figuera orofaciodigital syndrome X https://rarediseases.info.nih.gov/diseases/4061/orofaciodigital-syndrome-10 MONDO:0008138 Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct. Urrets-Zavalia syndrome orbital margin, hypoplasia OF syndromic orbital border hypoplasia MONDO:0008139 OSLAM syndrome is characterised by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangy, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anaemia. OSLAM syndrome osteosarcoma-limb anomalies-erythroid macrocytosis syndrome osteosarcoma, limb anomalies (clinodactyly, absence of digital ray in foot, bilateral radioulnar synostosis) and macrocytosis without anemia osteosarcoma, limb anomalies, and erythroid macrocytosis with megaloblastic marrow osteosarcoma, limb anomalies, and macrocytosis OSLAM syndrome MONDO:0008140 ossified ear cartilages ossified ear cartilages MONDO:0008141 ossicular malformations, familial familial middle ear ossicular anomalies familial ossicular malformations ossicular malformations, familial https://rarediseases.info.nih.gov/diseases/8184/ossicular-malformations-familial MONDO:0008142 Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course. Osteochondrosis of phalangeal epiphyses aseptic necrosis of phalangeal epiphyses osteochondritis of phalangeal epiphyses THIEMANN disease Thiemann epiphyseal disease Thiemann's disease osteoarthropathy of fingers familial osteoarthropathy of fingers, familial Thiemann disease, familial form MONDO:0008143 Any osteoarthritis in which the cause of the disease is a mutation in the FRZB gene. https://github.com/monarch-initiative/mondo/issues/1395 FRZB osteoarthritis osteoarthritis caused by mutation in FRZB osteoarthritis susceptibility 1 osteoarthritis susceptibility type 1 OS1 Oa osteoarthritis of hip, female-specific, susceptibility to osteoarthrosis osteoarthritis susceptibility 1 MONDO:0008145 A rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones. https://github.com/monarch-initiative/mondo/issues/4948 Kast's syndrome Ollier disease Ollier type enchondromatosis Ollier's disease dyschondroplasia enchondromatosis with haemangiomata enchondromatosis, multiple osteochondromatosis enchondromatosis enchondromatosis, multiple, Ollier type multiple cartilaginous enchondroses multiple enchondromatosis Ollier disease https://rarediseases.info.nih.gov/diseases/7251/ollier-disease MONDO:0008146 Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. https://github.com/monarch-initiative/mondo/issues/4948 Adair-Dighton syndrome OI type 1 OI1 Van der Hoeve syndrome mild osteogenesis imperfecta non-deforming osteogenesis imperfecta osteogenesis imperfecta type 1 osteogenesis imperfecta type I OI, type 1 classic non-deforming OI with blue sclerae osteogenesis imperfecta tarda osteogenesis imperfecta with blue sclerae osteogenesis imperfecta, type 1 osteogenesis imperfecta, type I Editor note: we follow ordo and place van der hoeve as exact synonym osteogenesis imperfecta type 1 MONDO:0008147 Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera. https://github.com/monarch-initiative/mondo/issues/4948 OI type 2 OI2 Vrolik type of osteogenesis imperfecta lethal osteogenesis imperfecta osteogenesis imperfecta type 2 osteogenesis imperfecta type II perinatal lethal osteogenesis imperfecta congenita OI, type 2 Perinatally lethal OI osteogenesis imperfecta congenita osteogenesis imperfecta congenita perinatal lethal form osteogenesis imperfecta congenita, perinatal lethal form osteogenesis imperfecta, type 2 osteogenesis imperfecta, type II osteogenesis imperfecta type 2 MONDO:0008148 Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI). https://github.com/monarch-initiative/mondo/issues/4948 OI type 4 OI4 osteogenesis imperfecta type IV osteogenesis imperfecta with normal sclera OI type IV OI, type 4 common variable OI with normal sclerae osteogenesis imperfecta with normal sclerae osteogenesis imperfecta, type 4 osteogenesis imperfecta, type IV osteogenesis imperfecta type 4 MONDO:0008149 An osteogenesis imperfecta found in a single South African family. osteogenesis imperfecta with opalescent teeth, blue sclerae and WORMIAN bones, but without fractures osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures MONDO:0008150 Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth. https://github.com/monarch-initiative/mondo/issues/4948 osteoglophonic dwarfism Fairbank-Keats syndrome OGD OSTEOGLOPHONIC dysplasia Osteoglosphonic dysplasia osteoglophonic dwarfism MONDO:0008151 Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission. https://github.com/monarch-initiative/mondo/issues/4948 GDD gnathodiaphyseal dysplasia GNATHODIAPHYSEAL dysplasia Gnathodiaphyseal sclerosis Levin syndrome 2 osteogenesis imperfecta Levin type osteogenesis imperfecta with unusual skeletal lesions gnathodiaphyseal dysplasia MONDO:0008152 Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities. https://github.com/monarch-initiative/mondo/issues/4948 idiopathic multicentric osteolysis with or without nephropathy multicentric carpo-tarsal osteolysis with or without nephropathy Carnevale canun Mendoza syndrome MCTO multicentric carpotarsal osteolysis syndrome multicentric osteolysis nephropathy multicentric osteolysis, autosomal dominant osteolysis, hereditary, of carpal bones with or without nephropathy multicentric carpo-tarsal osteolysis with or without nephropathy https://rarediseases.info.nih.gov/diseases/3818/multicentric-osteolysis-nephropathy MONDO:0008153 A rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation. familial ectopic ossification poh ectopic ossification familial type ectopic ossification, familial osseous heteroplasia, progressive osteoma cutis progressive osseous heteroplasia https://rarediseases.info.nih.gov/diseases/109/progressive-osseous-heteroplasia MONDO:0008154 osteomas of mandible osteomas of mandible MONDO:0008155 Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content. axial osteosclerosis osteomesopyknosis osteomesopyknosis https://rarediseases.info.nih.gov/diseases/391/osteomesopyknosis MONDO:0008156 A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates). https://github.com/monarch-initiative/mondo/issues/4948 Albers-Schonberg osteopetrosis Albers-Schönberg osteopetrosis OPTA2 autosomal dominant Albers-Schonberg disease autosomal dominant osteopetrosis type 2 autosomal dominant osteopetrosis type II osteopetrosis autosomal dominant type 2 osteopetrosis, autosomal dominant type 2 Albers-Schonberg disease, autosomal dominant marble bones, autosomal dominant osteopetrosis, autosomal dominant 2 osteopetrosis, autosomal dominant, type 2 osteosclerosis Fragilis generalisata autosomal dominant osteopetrosis 2 MONDO:0008157 Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5682 Buschke-Ollendorff syndrome disseminated dermatofibrosis with osteopoikilosis osteopoikilosis with or without melorheostosis Bos Buschke Ollendorff syndrome Dermatoosteopoikilosis dermatofibrosis lenticularis disseminata with osteopoikilosis dermatofibrosis lenticularis disseminata, isolated dermatofibrosis, disseminated with osteopoikilosis dermatofibrosis, disseminated, with osteopoikilosis osteopathia condensans disseminata osteopoikilosis with melorheostosis osteopoikilosis, isolated Buschke-Ollendorff syndrome MONDO:0008158 Dacryocystitis - osteopoikilosis is an exceedingly rare autosomal dominant disorder reported in only a few patients to date and is characterized by dacryocystitis due to lacrimal canal stenosis,and osteopoikilosis (demonastratedr adiologically as discrete spherical osteosclerotic lesions of 2-10mm in diameter). Gunal-Seber-Basaran syndrome Gunal Seber Basaran syndrome dacryocystitis osteopoikilosis osteopoikilosis and dacryocystitis dacryocystitis-osteopoikilosis syndrome MONDO:0008159 Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency. bone mineral density quantitative trait locus osteoporosis, postmenopausal postmenopausal osteoporosis MONDO:0008160 osteosclerosis with ichthyosis and fractures cortical thickening of long bones with bowing and ichthyosis osteosclerosis with ichthyosis and fractures MONDO:0008161 Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss. https://github.com/monarch-initiative/mondo/issues/4521 globodontia otodental dysplasia otodental dysplasia chromosome deletion syndrome otodental syndrome chromosome 11q13 deletion syndrome oculootodental syndrome otodental syndrome with coloboma otodental syndrome MONDO:0008162 otitis media, susceptibility to OMS come/Rom otitis Media, chronic/recurrent otitis media, susceptibility to MONDO:0008163 Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated. Fara-Chlupackova syndrome OFC syndrome otofaciocervical syndrome MONDO:0008164 OTSC1 otosclerosis 1 OTS otosclerosis 1 MONDO:0008165 Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones. https://github.com/monarch-initiative/mondo/issues/4521 hereditary ovalocytosis Melanesian elliptocytosis Melanesian ovalocytosis ovalocytosis, SA type sao stomatocytic elliptocytosis elliptocytosis 4 elliptocytosis, stomatocytic hereditary he, stomatocytic ovalocytosis, Malaysian-Melanesian-Filipino type ovalocytosis, hereditary hemolytic ovalocytosis, southeast Asian southeast Asian ovalocytosis MONDO:0008166 ovalocytosis, hereditary hemolytic, with defective erythropoiesis ovalocytosis, hereditary hemolytic, with defective erythropoiesis MONDO:0008167 A cystic teratoma that arises from the ovary. It presents as a cystic mass that contains sebaceous material admixed with hairs. In a minority of cases it is bilateral. dermoid cyst (& [ovarian]) dermoid cyst of ovary dermoid cyst of the ovary ovarian dermoid cyst ovary dermoid cyst dermoid cyst, ovarian teratoma, ovarian dermoid cyst of ovary MONDO:0008168 A benign neoplasm arising from soft tissue of the ovary. It is characterized by the presence of spindle-shaped fibroblasts. ovarian fibroma (disease) fibroma of ovary fibroma of the ovary ovarian fibroma ovarian fibroma (disease) ovarian fibromata ovarian fibroma MONDO:0008169 osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension osteochondrodysplasia with rhizomelia, platyspondyly, callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension MONDO:0008170 A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas. https://github.com/monarch-initiative/mondo/issues/4521 ovarian neoplasm ovary neoplasm tumor of the ovary cancer of ovary cancer of the ovary malignant neoplasm of ovary malignant neoplasm of the ovary malignant ovarian neoplasm malignant ovarian tumor malignant ovary neoplasm malignant tumor of ovary malignant tumor of the ovary malignant tumour of ovary ovarian cancer ovarian cancer, somatic ovarian malignant tumor ovary cancer ovarian cancer, epithelial primary ovarian cancer ovarian cancer MONDO:0008171 The presence of a calculus in the pelvis of the kidney; this is most often composed of mineral salts and proteins. Stone - kidney/ureter calculus of kidney and ureter kidney stone kidney stones renal calculi CAON nephrolithiasis, calcium oxalate urolithiasis, calcium oxalate nephrolithiasis MONDO:0008172 https://github.com/monarch-initiative/mondo/issues/4948 PHOAD hypertrophic osteoarthropathy, primary, autosomal dominant PDP, autosomal dominant Pho, autosomal dominant pachydermoperiostosis, autosomal dominant hypertrophic osteoarthropathy, primary, autosomal dominant MONDO:0008173 Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT16 gene. KRT16 pachyonychia congenita pachyonychia congenita 1 pachyonychia congenita caused by mutation in KRT16 pachyonychia congenita type 1 Jadassohn-Lewandowsky syndrome Jadassohn-Lewandowsky syndrome, formerly PC1 pachyonychia congenita, Jadassohn-Lewandowsky type pachyonychia congenita, Jadassohn-Lewandowsky type, formerly pachyonychia congenita 1 MONDO:0008174 Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT17 gene. KRT17 pachyonychia congenita pachyonychia congenita 2 pachyonychia congenita caused by mutation in KRT17 pachyonychia congenita type 2 PC2 pachyonychia congenita, Jackson-Lawler type pachyonychia congenita, Jackson-Lawler type, formerly pachyonychia congenita 2 MONDO:0008175 Pacman dysplasia is characterized by epiphyseal stippling and osteoclastic overactivity. It has been described in less than 10 patients but may be underdiagnosed. It is characterized radiographically by severe stippling of the lower spine and long bones, and periosteal cloaking. Patients also have short metacarpals. The syndrome may be inherited as an autosomal recessive trait. This disorder should be included in the differential diagnosis of mucolipidosis type II. In order to make a definitive diagnosis, lysosomal storage should be investigated by electron microscopy, or enzyme assays should be performed. Familial recurrence can be easily detected by prenatal ultrasonography. This skeletal dysplasia is lethal. epiphyseal stippling syndrome-osteoclastic hyperplasia syndrome pacman dysplasia Pacman syndrome epiphyseal stippling with osteoclastic hyperplasia pacman dysplasia https://rarediseases.info.nih.gov/diseases/4189/pacman-dysplasia MONDO:0008176 Paget disease of bone 3 Paget disease of bone type 3 PDB3 Paget disease of bone, familial familial Paget disease of bone Paget disease of bone 3 MONDO:0008177 A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva. Extramammary Paget's disease Paget disease Extramammary Paget's disease of skin Paget's disease of the skin Paget's skin disease extramammary Paget disease EMPD Paget disease, EXTRAMAMMARY cutaneous Paget's disease extramammary Paget disease MONDO:0008178 A rare autosomal dominant inherited disorder caused by mutations in the VCP gene. It can affect the muscles, bones, and brain. Patients may develop myopathy that initially involves the muscles of the hips and shoulders and as the disorder progresses it may affect the cardiac and respiratory muscles, leading to life-threatening cardiac and pulmonary failure. Approximately half of the adults develop Paget disease of bone, and approximately one-third develop frontotemporal dementia. https://github.com/monarch-initiative/mondo/issues/4521 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 1 inclusion body myopathy with early-onset paget disease and frontotemporal dementia 1 IBMPFD1 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 lower motor neuron degeneration with Paget-like bone disease multisystem proteinopathy 1 muscular dystrophy, limb-girdle, with Paget disease of bone pagetoid amyotrophic lateral sclerosis inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 MONDO:0008179 Paroxysmal extreme pain disorder is a rare disorder of abnormal pain sensation. familial rectal pain paroxysmal extreme pain disorder PEPD Pexpd familial rectal syndrome pain, submandibular, ocular, and rectal, with flushing rectal pain, familial submandibular, ocular, and rectal pain with flushing paroxysmal extreme pain disorder https://rarediseases.info.nih.gov/diseases/12854/paroxysmal-extreme-pain-disorder MONDO:0008180 Failure of the soft palate to reach the posterior pharyngeal wall to close the opening between the oral and nasal cavities. Incomplete velopharyngeal closure is primarily related to surgeries (adenoidectomy; cleft palate) or an incompetent palatopharyngeal sphincter. It is characterized by hypernasal speech. palatopharyngeal incompetence velopharyngeal incompetence velopharyngeal insufficiency congenital velopharyngeal incompetence MONDO:0008181 palmaris longus muscle, absence of palmaris longus muscle, absence of MONDO:0008182 Nasopalpebral lipoma-coloboma-telecanthus syndrome is characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus. nasopalpebral lipoma-coloboma syndrome NASOPALPEBRAL lipoma-coloboma syndrome NPLCS Nasopalpebral lipoma coloboma syndrome palpebral coloboma lipoma syndrome palpebral coloboma-lipoma syndrome nasopalpebral lipoma-coloboma syndrome https://rarediseases.info.nih.gov/diseases/3927/nasopalpebral-lipoma-coloboma-syndrome MONDO:0008183 Annular pancreas is a distinct form of duodenal atresia in which the head of the pancreas forms a ring around the second portion of the duodenum. pancreas, annular annular pancreas https://rarediseases.info.nih.gov/diseases/705/annular-pancreas MONDO:0008184 pancreas, dorsal, agenesis of agenesis of the dorsal pancreas complete agenesis of the dorsal pancreas congenital short pancreas pancreas agenesis, dorsal partial agenesis of the dorsal pancreas pancreas, dorsal, agenesis of MONDO:0008185 Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas. https://github.com/monarch-initiative/mondo/issues/5723 hereditary chronic pancreatitis hereditary pancreatitis HPC Hp PCTT autosomal dominant hereditary pancreatitis familial pancreatitis pancreatitis, calcific pancreatitis, calcific, included pancreatitis, chronic pancreatitis, chronic pancreatitis, chronic, susceptibility to, included pancreatitis, chronic, protection against pancreatitis, chronic, protection against, included pancreatitis, chronic, susceptibility to pancreatitis, hereditary hereditary chronic pancreatitis https://rarediseases.info.nih.gov/diseases/6632/hereditary-pancreatitis MONDO:0008186 pancytopenia and occlusive vascular disease pancytopenia and occlusive vascular disease MONDO:0008187 https://github.com/monarch-initiative/mondo/issues/4521 PAND1 panic disorder 1 panic disorder syndrome 1 panic disorder, susceptibility to panic disorder panic disorder susceptibility locus, chromosome 13Q-related panic disorder with Joint laxity panic disorder with bladder conditions panic disorder 1 MONDO:0008188 papillomatosis, confluent and reticulated carp papillomatosis, familial cutaneous papillomatosis, reticulated and confluent, of Gougerot and Carteaud papillomatosis, confluent and reticulated MONDO:0008189 A rare benign neoplasm that arises in the area of the nipple. Clinically, it usually presents as a tender erythematous crusting lesion with hardening of the nipple. Morphologically, there is proliferation of ducts lined with epithelial and myoepithelial cells and focal erosion of the epidermis. erosive adenomatosis of nipple erosive nipple adenomatosis papillomatosis, florid, of nipple erosive adenomatosis of the nipple florid papillomatosis florid papillomatosis of the nipple papillomatosis florid of nipple papillomatosis, florid, of nipple https://rarediseases.info.nih.gov/diseases/10174/florid-papillomatosis-of-the-nipple MONDO:0008192 Any paraganglioma in which the cause of the disease is a mutation in the SDHD gene. https://github.com/monarch-initiative/mondo/issues/4521 SDHD paraganglioma paraganglioma caused by mutation in SDHD paragangliomas 1 paragangliomas 1, with or without deafness paragangliomas type 1 PGL1 Paragangliomata carotid body tumors chemodectomas glomus jugulare tumors glomus tumors, familial, 1 paraganglioma, carotid body paragangliomas with sensorineural hearing loss paragangliomas, familial nonchromaffin, 1 paragangliomas, familial, 1 paragangliomas 1 MONDO:0008193 paralysis agitans, juvenile, of Hunt Parkinson disease, juvenile, of Hunt paralysis agitans, juvenile, of Hunt https://rarediseases.info.nih.gov/diseases/10359/paralysis-agitans-juvenile-of-hunt MONDO:0008194 Paramolar tubercle of bolk bolk cusp Paramolar tubercle of bolk MONDO:0008195 Paramyotonia congenita of Von Eulenburg is characterised by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait. It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3). paramyotonia congenita paramyotonia congenita of Von Eulenburg Eulenburg disease PMC Von Eulenburg paramyotonia congenita myotonia congenita intermittens paralysis periodica Paramyotonica paramyotonia congenita of VON Eulenburg paramyotonia congenita without cold paralysis paramyotonia congenita of Von Eulenburg MONDO:0008196 Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs. parastremmatic dwarfism Parastremmatic dysplasia parastremmatic dwarfism https://rarediseases.info.nih.gov/diseases/4222/parastremmatic-dwarfism MONDO:0008197 Any parietal foramina in which the cause of the disease is a mutation in the MSX2 gene. MSX2 parietal foramina parietal foramina 1 parietal foramina caused by mutation in MSX2 PFM PFM1 catlin Marks cranium bifidum occultum cranium bifidum, hereditary foramina parietalia permagna parietal foramina parietal foramina, symmetric parietal foramina 1 MONDO:0008198 Parietal foramina with clavicular hypoplasia is a rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported. parietal foramina with cleidocranial dysostosis parietal foramina with cleidocranial dysplasia PFMCCD cleidocranial dysplasia with parietal foramina parietal foramina with clavicular hypoplasia parietal foramina with cleidocranial dysplasia MONDO:0008199 A Parkinson disease that begins after around the age of 50. https://github.com/monarch-initiative/mondo/issues/3776 https://github.com/monarch-initiative/mondo/issues/4521 LOPD PARK PD Parkinson disease, age of onset, modifier, Multifactorial Parkinson disease, late-onset Parkinson disease, late-onset, susceptibility to, Multifactorial Parkinson disease, susceptibility to, Multifactorial autosomal dominant late-onset Parkinson disease hereditary late onset Parkinson disease hereditary late-onset Parkinson disease late onset Parkinson disease late onset Parkinson's disease late-onset Parkinson disease late-onset Parkinson disease MONDO:0008200 autosomal dominant Parkinson disease 1 autosomal dominant Parkinson disease type 1 PARK1 Parkinson disease 1, autosomal dominant Parkinson disease 1, autosomal dominant Lewy body atypical Parkinson disease autosomal dominant Parkinson's disease 1 Editor note: DO def states any mutation in SNCA, but this would include PARK4; def needs to state that this is het mutation autosomal dominant Parkinson disease 1 MONDO:0008201 Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression. Parkinsonism with alveolar hypoventilation and mental depression Perry syndrome parkinsonism with alveolar hypoventilation and mental depression Perry syndrome https://rarediseases.info.nih.gov/diseases/10453/perry-syndrome MONDO:0008202 Parotidomegaly, hereditary bilateral Parotidomegaly, hereditary bilateral MONDO:0008203 Passovoy factor defect Passovoy factor defect MONDO:0008205 Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date. https://github.com/monarch-initiative/mondo/issues/4521 PTLAH patella aplasia or hypoplasia absent patella familial absence of the patella familial aplasia of the patella (subtype) patella aplasia-hypoplasia patella aplasia/hypoplasia MONDO:0008206 Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset. Ouvrier-Billson syndrome Ouvrier Billson syndrome paroxysmal tonic upgaze, benign childhood, with ataxia benign paroxysmal tonic upgaze of childhood with ataxia MONDO:0008207 Familial chondromalacia patellae is an inherited bone disorder described in 5 families in 1963 and is characterized by localized patellar pain and male-to-male transmission. chondromalacia of patella chondromalacia patellae patella chondromalacia softening of articular cartilage of patella familial chondromalacia patellae patella, chondromalacia OF chondromalacia patellae MONDO:0008208 patella, familial recurrent dislocation of patella, familial recurrent dislocation of MONDO:0008209 Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies. Char syndrome patent ductus arteriosus with facial dysmorphism and abnormal fifth digits CHAR CHAR syndrome Char patent ductus arteriosus with Facial Dysmorphism and abnormal fifth digits Char syndrome https://rarediseases.info.nih.gov/diseases/1237/char-syndrome MONDO:0008210 Any patterned macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene. MDPT1 PRPH2 patterned macular dystrophy butterfly-shaped pigmentary maculary dystrophy 1 macular dystrophy, butterfly-shaped pigmentary macular dystrophy, patterned, type 1 patterned macular dystrophy caused by mutation in PRPH2 patterned macular dystrophy type 1 butterfly dystrophy of retinal pigment epithelium butterfly-shaped pigment dystrophy of the fovea macular dystrophy, butterfly-Shaped pigmentary macular dystrophy, patterned, 1 patterned dystrophy of retinal pigment epithelium patterned macular dystrophy 1 MONDO:0008211 Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981. Patterson syndrome Patterson pseudoleprechaunism syndrome Patterson's leprechaunoid syndrome pseudoleprechaunism syndrome, Patterson type MONDO:0008212 Pechet factor deficiency Dynia factor deficiency Pechet factor deficiency MONDO:0008213 A developmental anomaly in which the lower sternum is posteriorly dislocated and concavely deformed, resulting in a funnel-shaped thorax. pectus excavatum (disease) pectus excavatum pectus excavatum (disease) funnel chest pectus excavatum MONDO:0008214 An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear. Pelger-Huet anomaly PHA Pelger Huet anomaly Pelger-Huet nuclear anomaly ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities Pelger-Huet anomaly MONDO:0008215 Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction,ataxia and mild cognitive impairment. https://github.com/monarch-initiative/mondo/issues/4521 ADLD adult-onset autosomal dominant demyelinating leukodystrophy adult-onset autosomal dominant leukodystrophy autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease leukodystrophy, adult-onset, autosomal dominant Pelizaeus-Merzbacher disease, autosomal dominant or late-onset type Pelizaeus-Merzbacher disease, autosomal dominant or late-onset type, formerly autosomal dominant adult-onset demyelinating leukodystrophy autosomal dominant leukodystrophy with autonomic disease leukodystrophy, demyelinating, ADULT-onset, autosomal dominant multiple sclerosis-like disorder adult-onset autosomal dominant demyelinating leukodystrophy MONDO:0008216 pelvic lipomatosis with crossed renal ectopia pelvic lipomatosis with crossed renal ectopia MONDO:0008217 Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis. https://github.com/monarch-initiative/mondo/issues/4948 Kosenow syndrome Scapuloiliac dysostosis pelvis-shoulder dysplasia pelvis-shoulder dysplasia MONDO:0008218 Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva). Hailey-Hailey disease benign chronic familial pemphigus of Hailey-Hailey benign chronic pemphigus pemphigus, benign familial BCPM benign familial pemphigus familial benign chronic pemphigus familial benign pemphigus Hailey-Hailey disease https://rarediseases.info.nih.gov/diseases/6559/hailey-hailey-disease MONDO:0008219 Pemphigus is a group of chronic autoimmune skin diseases characterized by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, of which pemphigus vulgaris is the most frequent (75%). familial pemphigus vulgaris pemphigus vulgaris, familial Editor note: check familial vs acquired pemphigus vulgaris MONDO:0008221 An inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly. https://github.com/monarch-initiative/mondo/issues/4985 https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/5682 hyperimidodipeptiduria prolidase deficiency Imidodipeptidase deficiency Peptidase deficiency prolidase deficiency MONDO:0008222 Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly. ATS Andersen cardiodysrhythmic periodic paralysis Andersen syndrome Andersen-Tawil syndrome LQT7 Potassium-sensitive cardiodysrhythmic type long QT syndrome 7 long QT syndrome type 7 Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features cardiodysrhythmic potassium-sensitive periodic paralysis periodic paralysis, Potassium-sensitive cardiodysrhythmic type Andersen-Tawil syndrome MONDO:0008223 Hypokalemic periodic paralysis (hypoPP) is characterised by episodes of muscle paralysis lasting from a few to 24-48 hours and associated with a fall in blood potassium levels. HKPP HOKPP HypoPP Westphall disease familial hypokalemic periodic paralysis familial periodic paralysis (& [hypokalaemic]) hypokalemic familial periodic paralysis hypokalemic periodic paralysis periodic hypokalemic paralysis periodic paralysis I hypokalemic periodic paralysis https://rarediseases.info.nih.gov/diseases/6729/hypokalemic-periodic-paralysis MONDO:0008224 Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration. https://github.com/monarch-initiative/mondo/issues/4521 Gamstorp disease Gamstorp episodic adynamy HYPP adynamia episodica hereditaria adynamia episodica hereditaria with or without myotonia familial hyperPP familial hyperkalemic periodic paralysis familial hyperkalemic periodic paralysis (disorder) [ambiguous] hyperKPP hyperPP hyperkalemic PP hyperkalemic periodic paralysis hyperkalemic periodic paralysis, type 2 normokalemic periodic paralysis, potassium-sensitive primary hyperPP primary hyperkalemic periodic paralysis sodium channel muscle disease hyperkalemic periodic paralysis MONDO:0008225 NormoKPP normokalemic PP normokalemic periodic paralysis periodic paralysis type 3 potassium-sensitive normokalemic periodic paralysis Editor note: NCIT says SNC4A, check this normokalemic periodic paralysis MONDO:0008226 A localized aggressive periodontitis, formerly called localized juvenile periodontitis. It is a destructive form of periodontitis characterized by ALVEOLAR BONE LOSS of the MOLARS and INCISORS. Inflammation and loss of PERIODONTIUM that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as DENTAL PLAQUE and DENTAL CALCULUS. This highly destructive form of periodontitis often occurs in young people and was called early-onset periodontitis, but this disease also appears in old people. https://github.com/monarch-initiative/mondo/issues/4521 juvenile periodontitis periodontitis 1, juvenile periodontitis, aggressive, type 1 periodontitis, aggressive, 1 periodontitis, juvenile periodontitis, prepubertal periodontitis, aggressive 1 MONDO:0008227 peripheral dysostosis dysostosis peripheral peripheral dysostosis https://rarediseases.info.nih.gov/diseases/2015/dysostosis-peripheral MONDO:0008228 Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells. Addison anaemia Addison's anaemia Addison-Biermer anemia Biermer anemia Biermer disease Biermer's anemia acquired pernicious anemia anemia pernicious intrinsic factor deficiency juvenile onset pernicious anemia pernicious anemia pernicious anemia MONDO:0008229 peroneal nerve, accessory deep accessory deep peroneal nerve peroneal nerve, accessory deep https://rarediseases.info.nih.gov/diseases/8546/accessory-deep-peroneal-nerve MONDO:0008230 peroxidase, salivary SAPX peroxidase, salivary MONDO:0008231 A condition characterized by hardening of the penis due to the formation of fibrous plaques on the dorsolateral aspect of the penis, usually involving the membrane (tunica albuginea) surrounding the erectile tissue (corpus cavernosum penis). This may eventually cause a painful deformity of the shaft or constriction of the urethra, or both. Induratio penis plastica Peyronie disease Peyronie's disease Peyronie's fibromatosis Peyronie disease MONDO:0008232 phagocytosis, plasma-related defect type 1N phagocytosis, plasma-RELATED defect IN phagocytosis, plasma-related defect 1N MONDO:0008233 phaeochromocytoma pheochromocytoma pheochromocytoma, susceptibility to pheochromocytoma MONDO:0008234 Multiple endocrine neoplasia 2A (MEN2A) syndrome is a form of MEN2 characterized by medullary thyroid carcinoma (MTC) in combination with pheochromocytoma and primary mild hyperparathyroidism resulting from hyperplasia or adenoma of the parathyroid cells. https://github.com/monarch-initiative/mondo/issues/4521 MEA type 2a MEA type II MEN2A Sipple syndrome men 2A men type 2a men type II multiple endocrine adenomatosis type 2A multiple endocrine adenomatosis type 2a multiple endocrine adenomatosis type II multiple endocrine adenomatosis, type II multiple endocrine neoplasia II multiple endocrine neoplasia IIA multiple endocrine neoplasia type 2A multiple endocrine neoplasia type II multiple endocrine neoplasia, type II ptc syndrome men-2A syndrome multiple endocrine neoplasia, type 2A multiple endocrine neoplasia, type IIA pheochromocytoma and amyloid producing medullary thyroid carcinoma pheochromocytoma and amyloid-producing medullary thyroid carcinoma thyroid carcinoma, familial medullary multiple endocrine neoplasia type 2A https://rarediseases.info.nih.gov/diseases/4881/multiple-endocrine-neoplasia-type-2a MONDO:0008235 pheochromocytoma--islet cell tumor syndrome pheochromocytoma-islet cell tumor syndrome pheochromocytoma and islet cell tumor of the pancreas pheochromocytoma-islet cell tumor syndrome https://rarediseases.info.nih.gov/diseases/4321/pheochromocytoma-islet-cell-tumor-syndrome MONDO:0008236 phlebectasia of lips phlebectasia of lips MONDO:0008237 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is characterised by phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients (a father and his son and a mother and her daughter) from two unrelated families. Stoll-LC)vy-Francfort syndrome Stoll-Lévy-Francfort syndrome Stoll-levy-Francfort syndrome facioauriculoradial dysplasia phocomelia ectrodactyly deafness sinus arrhythmia phocomelia-ectrodactyly, EAR malformation, deafness, and sinus arrhythmia phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome MONDO:0008238 phosphatase, acid, of tissues Acp3--Alpha polypeptide lysosomal acid phosphatase phosphatase, acid, of tissues MONDO:0008239 phosphoglucomutase 4 phosphoglucomutase type 4 Pgm4 milk PGM phosphoglucomutase 4 MONDO:0008240 6-phosphogluconolactonase deficiency 6Pgl deficiency Pgls deficiency 6-phosphogluconolactonase deficiency MONDO:0008241 phosphoglycoprotein 1 phosphoglycoprotein type 1 PGP1 phosphoglycoprotein 1 MONDO:0008242 photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction Herrmann syndrome hereditary photomyoclonus associated with diabetes mellitus, deafness, nephropathy, and cerebral dysfunction photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction MONDO:0008243 A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies. PICK disease of brain Pick disease dementia in Pick's disease lobar atrophy of brain Pick disease of the brain Pick's disease dementia with lobar atrophy and neuronal cytoplasmic inclusions lobar atrophy of the brain Pick disease MONDO:0008244 Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes. partial albinism piebald trait piebaldism PBT piebaldism https://rarediseases.info.nih.gov/diseases/4344/piebaldism MONDO:0008245 Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971. telfer-Sugar-Jaeger syndrome White forelock and leukoderma with neurological impairment piebald trait neurologic defects piebald trait with neurologic defects telfer Sugar Jaeger syndrome piebald trait-neurologic defects syndrome MONDO:0008246 Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ''bone-corpuscle'' pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision. PPRCA PPCRA pigmented paravenous chorioretinal atrophy pigmented paravenous retinochoroidal atrophy MONDO:0008247 Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986. Pierre Robin sequence-oligodactyly syndrome Pierre Robin syndrome and oligodactyly Robin sequence and oligodactyly robin sequence-oligodactyly syndrome MONDO:0008248 pigmented purpuric eruption Schamberg disease Schamberg purpura familial pigmented purpuric eruption pigmented purpura pigmented purpuric dermatosis progressive pigmented purpura pigmented purpuric eruption MONDO:0008249 A hair-containing cyst or sinus, occurring chiefly in the coccygeal region. pilonidal sinus (disease) pilonidal sinus pilonidal sinus (disease) pilonidal sinus MONDO:0008250 https://github.com/monarch-initiative/mondo/issues/4521 IGHD II autosomal dominant isolated growth hormone deficiency autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency congenital IGHD type II congenital isolated GH deficiency type II congenital isolated growth hormone deficiency type II growth hormone deficiency, isolated, type II Growth hormone deficiency, isolated autosomal dominant Growth hormone deficiency, isolated, autosomal dominant IGHD 2 IGHD2 isolated Growth hormone deficiency, type 2 isolated growth hormone deficiency type 2 isolated growth hormone deficiency, type II pituitary dwarfism due to isolated Growth hormone deficiency, autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant isolated growth hormone deficiency type II https://rarediseases.info.nih.gov/diseases/1696/isolated-growth-hormone-deficiency-type-2 MONDO:0008251 A rare chronic papulosquamous disorder of unknown etiology characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists. https://github.com/monarch-initiative/mondo/issues/3470 pityriasis rubra pilaris Devergie's disease PRP hereditary pityriasis rubra pilaris pityriasis rubra pilaris--familial type familial pityriasis rubra pilaris MONDO:0008252 platelet adenylate cyclase activity platelet adenylate cyclase activity MONDO:0008253 platelet aggregation, spontaneous platelet aggregation, spontaneous MONDO:0008254 platelet disorder, undefined platelet disorder, undefined MONDO:0008255 platelet factor 3 deficiency platelet factor 3 deficiency MONDO:0008256 platelet membrane fluidity PMF platelet membrane fluidity MONDO:0008257 platelet responsiveness to adrenaline, depressed platelet responsiveness to adrenaline, depressed MONDO:0008258 platelet signal processing defect platelet signal processing defect MONDO:0008259 Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated. Psp pneumothorax, primary spontaneous primary spontaneous pneumothorax spontaneous pneumothorax familial spontaneous pneumothorax MONDO:0008260 Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes. KS Kindler syndrome poikiloderma of Kindler KINDLER syndrome KNDLRS bullous acrokeratotic poikiloderma of Kindler and Weary congenital bullous poikiloderma poikiloderma, congenital, with bullae, Weary type poikiloderma, hereditary acrokeratotic Kindler syndrome MONDO:0008261 poikiloderma, hereditary sclerosing hereditary sclerosing poikiloderma, Weary type MONDO:0008262 Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly. https://github.com/monarch-initiative/mondo/issues/4948 Poland anomaly Poland sequence Poland syndrome Poland's syndactyly Poland syndactyly Poland's syndrome pectoralis muscle, absence of unilateral defect of pectoralis muscle and syndactyly of the hand Poland syndrome https://rarediseases.info.nih.gov/diseases/7412/poland-syndrome MONDO:0008263 Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene. APKD1 PKD1 PKD1 autosomal dominant polycystic kidney disease autosomal dominant polycystic kidney disease caused by mutation in PKD1 polycystic kidney disease 1 polycystic kidney disease type 1 polycystic kidney disease, adult, type I Potter type 3 polycystic kidney disease Potter type 3 polycystic kidney disease, formerly polycystic kidney disease 1 with or without polycystic liver disease polycystic kidney disease, adult polycystic kidney disease, adult, type 1 polycystic kidney disease 1 MONDO:0008264 A genetic kidney disease that causes progressive loss of kidney function caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), or mucin-1 (MUC1). ADTKD autosomal dominant interstitial kidney disease autosomal dominant medullary cystic kidney disease autosomal dominant medullary cystic kidney disease with or without hyperuricemia MCKD autosomal dominant tubulointerstitial kidney disease medullary cystic disease medullary cystic kidney disease polycystic kidneys, medullary type autosomal dominant medullary cystic kidney disease with or without hyperuricemia https://rarediseases.info.nih.gov/diseases/10801/medullary-cystic-kidney-disease MONDO:0008265 A polycystic liver disease in which the cause of the disease is a mutation in the PRKCSH gene, and is characterized by the appearance of numerous cysts spread throughout the liver. isolated congenital polycystic liver disease isolated polycystic liver disease PCLD1 nonsyndromic congenital polycystic liver disease nonsyndromic polycystic liver disease (disease) polycystic liver disease 1 polycystic liver disease 1 with or without kidney cysts ADPCLD PCLD autosomal dominant polycystic liver disease isolated autosomal dominant polycystic liver disease polycystic liver disease polycystic liver disease 1 MONDO:0008266 https://github.com/monarch-initiative/mondo/issues/4521 polydactyly, postaxial, type A1 polydactyly, postaxial, types A1 and B PAPA1 polydactyly, postaxial postaxial polydactyly, type A postaxial polydactyly, type B polydactyly, postaxial, type A1 MONDO:0008267 Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum). https://github.com/monarch-initiative/mondo/issues/5588 OFD5 Thurston syndrome oral-facial-digital syndrome type 5 orofaciodigital syndrome Thurston type orofaciodigital syndrome V orofaciodigital syndrome type 5 orofaciodigital syndrome type V orofaciodigital syndrome, Thurston type polydactyly postaxial with median cleft of upper lip polydactyly, postaxial, with median cleft of upper lip OFD syndrome 5 Ofds 5 oral facial digital syndrome 5 oral facial digital syndrome type 5 oral-Facial-digital syndrome, type 5 oral-facial-digital syndrome 5 orofaciodigital syndrome 5 polydactyly, postaxial, with Median cleft of upper lip orofaciodigital syndrome V https://rarediseases.info.nih.gov/diseases/4120/orofaciodigital-syndrome-5 MONDO:0008268 Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986. Czeizel-Brooser syndrome polydactyly-myopia syndrome Czeizel Brooser syndrome PMS polydactyly myopia syndrome polydactyly, postaxial, with progressive myopia postaxial polydactyly with progressive myopia postaxial polydactyly-progressive myopia syndrome polydactyly-myopia syndrome https://rarediseases.info.nih.gov/diseases/4413/polydactyly-myopia-syndrome MONDO:0008269 Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left. https://github.com/monarch-initiative/mondo/issues/4948 PPD1 polydactyly, preaxial type 1 preaxial polydactyly type 1 Fromont anomaly polydactyly preaxial 1 polydactyly, preaxial 1 polydactyly, preaxial I preaxial polydactyly 1 thenar hypoplasia thumb polydactyly polydactyly of a biphalangeal thumb MONDO:0008270 A form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 PPD2 polydactyly, preaxial type 2 polydactyly, preaxial type II preaxial polydactyly type 2 triphalangeal thumb, type i TPT-PS syndrome polydactyly of triphalangeal thumb polydactyly, preaxial 2 polydactyly, preaxial II triphalangeal thumb triphalangeal thumb with polysyndactyly triphalangeal thumb-polydactyly syndrome triphalangeal thumb-polysyndactyly syndrome polydactyly of a triphalangeal thumb MONDO:0008271 Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral. There have been no further descriptions in the literature since 1962. https://github.com/monarch-initiative/mondo/issues/4948 PPD3 polydactyly, preaxial type 3 preaxial polydactyly type 3 index finger polydactyly polydactyly, preaxial 3 polydactyly, preaxial III polydactyly of an index finger MONDO:0008272 Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 PPD4 polydactyly, preaxial type 4 polydactyly, preaxial, type IV preaxial polydactyly type 4 crossed polydactyly type 1 crossed polydactyly, type 1 polydactyly preaxial 4 polydactyly, preaxial 4 polydactyly, preaxial IV polysyndactyly uncomplicated polysyndactyly, uncomplicated preaxial polydactyly 4 polysyndactyly 4 https://rarediseases.info.nih.gov/diseases/1616/crossed-polydactyly-type-1 MONDO:0008273 Hutchinson summer prurigo actinic prurigo familial polymorphous light eruption of American Indians hereditary polymorphous light eruption of American Indians hydroa aestivale juvenile Spring eruption of ears polymorphic Light eruption, hereditary actinic prurigo MONDO:0008274 Fibrous dysplasia affecting more than one bone. When it is associated with café-au-lait skin pigmentation and endocrine disorders, it is known as McCune-Albright syndrome. https://github.com/monarch-initiative/mondo/issues/5507 fibrous dysplasia of bone PFD polyostotic fibrous dysplasia of bone polyostotic fibrous dysplasia MONDO:0008275 https://github.com/monarch-initiative/mondo/issues/4948 McCabe disease familial expansile osteolysis hereditary expansile polyostotic osteolytic dysplasia EOF FEO HEPOD Mccabe disease expansile osteolysis, familial osteolysis, familial expansile polyostotic osteolytic dysplasia, hereditary expansile familial expansile osteolysis MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli jPS juvenile intestinal polyposis juvenile polyposis coli juvenile polyposis of stomach juvenile polyposis syndrome polyposis, familial, of Entire gastrointestinal tract polyposis, juvenile intestinal generalized juvenile polyposis/juvenile polyposis coli MONDO:0008277 A polyp that arises from the stomach. This category includes neoplastic polyps (intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps), and non-neoplastic polyps (hyperplastic polyps and hamartomatous polyps). gastric polyp gastric polyposa polyps of stomach polyps of the stomach gastric polyposis Editor note: consider splitting polyposis from polyp stomach polyp MONDO:0008278 https://github.com/monarch-initiative/mondo/issues/3685 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome JP/Hht syndrome JPHT jPS/Hht juvenile polyposis with hereditary hemorrhagic telangiectasia polyposis, generalized juvenile, with pulmonary arteriovenous malformation telangiectasia, hereditary hemorrhagic, with juvenile polyposis coli juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome MONDO:0008280 Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies. Jeghers-Peutz syndrome PJS Peutz Jeghers colon polyp Peutz's syndrome Peutz-Jeghers polyp of small intestine Peutz-Jeghers small bowel hamartoma Peutz-Jeghers syndrome colonic hamartomatous polyp gastric Peutz-Jeghers polyp hamartomatous intestinal polyposis polyps and spots syndrome Peutz Jeghers polyposis lentiginosis, perioral periorificial lentiginosis syndrome polyposis, hamartomatous intestinal polyps-and-Spots syndrome Peutz-Jeghers syndrome https://rarediseases.info.nih.gov/diseases/7378/peutz-jeghers-syndrome MONDO:0008281 polyposis, intestinal, scattered and discrete polyps, scattered, discrete intestinal polyposis, intestinal, scattered and discrete MONDO:0008282 polyposis, intestinal, with multiple exostoses polyposis, intestinal, with multiple exostoses MONDO:0008283 Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation. Cronkhite-Canada syndrome gastric Cronkhite Canada polyposis gastrointestinal polyposis-ectodermal changes syndrome gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome Cronkhite-Canada disease polyposis skin pigmentation alopecia fingernail changes polyposis, skin pigmentation, alopecia, and fingernail changes Cronkhite-Canada syndrome https://rarediseases.info.nih.gov/diseases/4427/cronkhite-canada-disease MONDO:0008284 polyposis of gastric fundus without polyposis coli fundic gland polyposis polyposis of gastric fundus without polyposis coli MONDO:0008285 https://github.com/monarch-initiative/mondo/issues/4521 gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial polyps, multiple and recurrent inflammatory fibroid, gastrointestinal polyps, multiple and recurrent inflammatory fibroid, gastrointestinal MONDO:0008286 Crossed polysyndactyly is a rare, genetic, congenital limb malformation disorder characterized by unilateral or bilateral postaxial polydactyly in the hands and preaxial polydactyly in the feet, associated with bilateral cutaneous syndactyly of first, second and third toes. Cutaneous syndactyly in hands has also been reported in some patients. There have been no further descriptions in the literature since 1994. crossed polydactyly polysyndactyly, crossed crossed polysyndactyly https://rarediseases.info.nih.gov/diseases/1617/crossed-polysyndactyly MONDO:0008287 Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome. https://github.com/monarch-initiative/mondo/issues/4948 GCPS Greig cephalopolysyndactyly syndrome Greig cephalosyndactyly syndrome Greig's syndrome polysyndactyly with peculiars skull shape Greig syndrome polysyndactyly with peculiar skull Shape Greig cephalopolysyndactyly syndrome https://rarediseases.info.nih.gov/diseases/6550/greig-cephalopolysyndactyly-syndrome MONDO:0008288 A synovial cyst located in the back of the knee, in the popliteal space arising from the semimembranous bursa or the knee joint. popliteal cyst baker cyst popliteal cyst MONDO:0008289 Any porencephaly in which the cause of the disease is a mutation in the COL4A1 gene. ADT1P BSVD BSVD1 COL4A1 porencephaly COL4A1-related brain small vessel disease with hemorrhage COL4A1-related familial vascular leukoencephalopathy COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome T1P autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy brain small vessel disease with Axenfeld-Riegar anomaly brain small vessel disease with axenfeld-rieger anomaly brain small vessel disease with hemorrhage brain small vessel disease with or without ocular anomalies hemiplegia, infantile, with porencephaly infantile hemiparesis leukoencephalopathy with axenfeld-rieger anomaly porencephaly 1 porencephaly caused by mutation in COL4A1 porencephaly type 1 retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant POREN1 hemiplegia, infantile, with porencephaly porencephaly, type 1 porencephaly, type 1, autosomal dominant brain small vessel disease 1 with or without ocular anomalies MONDO:0008290 POROK1 porokeratosis 1, MIBELLI type porokeratosis 1, multiple types porokeratosis of Mibelli porokeratosis 1, Mibelli type MONDO:0008291 Porokeratosis plantaris palmaris et disseminata (PPPD) is a rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually become generalized. https://github.com/monarch-initiative/mondo/issues/4521 palmar, plantar and disseminated porokeratosis porokeratosis 2, palmar, plantar, and disseminated porokeratosis plantaris palmaris et disseminata POROK2 porokeratosis 2, palmar, plantar, and disseminated type porokeratosis palmaris Et plantaris disseminata porokeratosis, palmar, plantar, and disseminated porokeratosis, palmar, plantar, and disseminated, 1 porokeratosis plantaris palmaris et disseminata MONDO:0008292 Punctate palmoplantar keratoderma type 2 is a type of isolated, punctate, hereditary palmoplantar keratoderma characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections ("spiny keratosis") on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically, compact columnar parakeratosis over hypo- or agranular epidermis is observed. PPKP2 PPPP punctate palmoplantar hyperkeratosis type 2 keratoderma palmoplantar, punctate type 2 palmoplantar keratoderma, punctate type II porokeratosis punctata palmaris Et plantaris punctate palmoplantar keratoderma type II type 2 punctate PPK punctate palmoplantar keratoderma type 2 MONDO:0008293 porokeratosis 3, disseminated superficial actinic type DSAP1 Dsap POROK3 porokeratosis 3, multiple types porokeratosis, disseminated superficial actinic 1 porokeratosis, disseminated superficial actinic, 1 porokeratosis 3, disseminated superficial actinic type MONDO:0008294 Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias. It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations. AIP - acute intermittent porphyria acute intermittent porphyria porphyria intermittent acute pyrroloporphyria AIP HMBS deficiency PBGD deficiency UPS deficiency hydroxymethylbilane synthase deficiency porphobilinogen deaminase deficiency porphyria, Chester type porphyria, Swedish type porphyria, acute intermittent porphyria, acute intermittent, Nonerythroid variant uroporphyrinogen synthase deficiency acute intermittent porphyria MONDO:0008295 An instance of porphyria cutanea tarda that is acquired during the lifetime of the individual. acquired porphyria cutanea tarda porphyria cutanea tarda type I PCT, 'sporadic' type PCT, type 1 porphyria cutanea tarda, type 1 porphyria cutanea tarda, type I Editor note: see notes on parent class PCT for discussion of classification into sporadic/familial sporadic porphyria cutanea tarda MONDO:0008296 An instance of porphyria cutanea tarda that is caused by an inherited modification of the individual's genome. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5128 hereditary porphyria cutanea tarda porphyria cutanea tarda type II porphyria cutanea tarda, susceptibility to PCT PCT, 'familial' type PCT, type 2 Urod deficiency porphyria cutanea tarda porphyria cutanea tarda, type 2 porphyria, Hepatocutaneous type porphyria, hepatoerythropoietic uroporphyrinogen decarboxylase deficiency Editor note: see notes on parent class PCT for discussion of classification into sporadic/familial familial porphyria cutanea tarda MONDO:0008297 Variegate porphyria is a form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions. https://github.com/monarch-initiative/mondo/issues/4521 Protocoproporphyria protoporphyrinogen oxidase deficiency variegate porphyria PPOX deficiency VP porphyria variegata porphyria variegata, susceptibility to porphyria variegate porphyria, South African type variegate porphyria, homozygous variant variegate porphyria https://rarediseases.info.nih.gov/diseases/7848/variegate-porphyria MONDO:0008298 Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993. oligodactyly tetramelic postaxial postaxial oligodactyly, tetramelic postaxial tetramelic oligodactyly https://rarediseases.info.nih.gov/diseases/4065/oligodactyly-tetramelic-postaxial MONDO:0008299 posterior column ataxia Biemond ataxia posterior column ataxia https://rarediseases.info.nih.gov/diseases/10044/posterior-column-ataxia MONDO:0008300 Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems. Prader Willi syndrome Prader-Labhart-Willi syndrome Prader-Willi syndrome Prader-Willi-Labhart syndrome Willi-Prader syndrome PWS Prader-Willi syndrome chromosome region Prader-Willi-like syndrome associated with chromosome 6 obesity, muscular hypotonia, intellectual disability, short stature, hypogonadotropic hypogonadism, and small hands and feet obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet Prader-Willi syndrome https://rarediseases.info.nih.gov/diseases/5575/prader-willi-syndrome MONDO:0008301 Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias. Guttmacher syndrome preaxial deficiency-postaxial polydactyly-hypospadias syndrome autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias preaxial deficiency, postaxial polydactyly and hypospadias preaxial deficiency, postaxial polydactyly, and hypospadias Guttmacher syndrome MONDO:0008302 Any central precocious puberty in which the cause of the disease is a mutation in the KISS1R gene. KISS1R central precocious puberty central precocious puberty caused by mutation in KISS1R precocious puberty, central, 1 precocious puberty, central, type 1 CPPB1 centra precocious puberty 1 MONDO:0008303 Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height. https://github.com/monarch-initiative/mondo/issues/4521 pubertas praecox FMPP LHCGR peripheral precocious puberty familial gonadotropin-independent male-limited sexual precocity leydig cell adenoma, somatic, with precocious puberty male-limited precocious puberty peripheral precocious puberty caused by mutation in LHCGR precocious puberty, male testotoxicosis testotoxicosis, familial Leydig cell adenoma, somatic, with male-limited precocious puberty familial Testotoxicosis (subtype) precocious puberty, male limited precocious puberty, male-limited sexual precocity, familial, gonadotropin-independent familial male-limited precocious puberty MONDO:0008304 https://github.com/monarch-initiative/mondo/issues/4521 premature chromatid separation trait PCS total premature chromatid separation trait premature chromatid separation trait MONDO:0008305 Currarino syndrome (CS) is a rare congenital disease characterized by the triad of anorectal malformations (ARMs) (usually anal stenosis), presacral mass (commonly anterior sacral meningocele (ASM) or teratoma) and sacral anomalies (i.e. total or partial agenesis of the sacrum and coccyx or deformity of the sacral vertebrae). https://github.com/monarch-initiative/mondo/issues/4948 Currarino syndrome Currarino triad CURRARINO syndrome Scra1 partial sacral agenesis with intact first sacral vertebra, presacral mass and anorectal malformation sacral agenesis syndrome sacral agenesis, hereditary, with presacral Mass, anterior meningocele, and/or teratoma, and anorectal malformation Currarino triad MONDO:0008306 A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2. ABri amyloidosis FBD cerebral amyloid angiopathy, British type cerebral amyloid angiopathy, ITM2B-related, type 1 familial British dementia familial dementia, British type presenile dementia with spastic ataxia Bri amyloidosis ITM2B-related cerebral amyloid angiopathy 1 cerebral amyloid angiopathy, ITM2B-RELATED, 1 dementia familial British dementia, familial British ABri amyloidosis https://rarediseases.info.nih.gov/diseases/8344/dementia-familial-british MONDO:0008307 presenile dementia, Kraepelin type Kraepelin disease catatonia of Kraepelin presenile dementia, Kraepelin type https://rarediseases.info.nih.gov/diseases/10032/presenile-dementia-kraepelin-type MONDO:0008308 priapism, familial idiopathic familial idiopathic priapism priapism, familial idiopathic MONDO:0008309 primary release disorder of platelets bleeding disorder due to primary defects in platelet release mechanism primary release disorder of platelets https://rarediseases.info.nih.gov/diseases/10357/primary-release-disorder-of-platelets MONDO:0008310 Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat). https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5537 progeria HGPS Hutchinson Gilford syndrome Hutchinson-Gilford disease Hutchinson-Gilford progeria Hutchinson-Gilford progeria syndrome premature senility syndrome Hutchinson Gilford progeria syndrome progeria syndrome, childhood-onset Editor note: check wether subset prototype_pattern is appropriate Hutchinson-Gilford progeria syndrome https://rarediseases.info.nih.gov/diseases/7467/progeria MONDO:0008311 Progeria-short stature-pigmented nevi is a progeroid disorder characterised by low birthweight, short stature, multiple pigmented nevi and lack of facial subcutaneous fat. Mulvihill-Smith syndrome progeroid short stature with pigmented nevi progeria-short stature-pigmented nevi syndrome MONDO:0008312 Malocclusion in which the mandible is anterior to the maxilla as reflected by the first relationship of the first permanent molar (mesioclusion). 'Habsburg jaw' 'Hapsburg jaw' Habsburg jaw Hapsburg jaw prognathism mandibular prognathism, mandibular autosomal dominant prognathism MONDO:0008313 https://github.com/monarch-initiative/mondo/issues/4882 pelvic organ prolapse, susceptibility to pelvic organ prolapse, susceptibility to, 1 prolapse of vagina and rectum rectal prolapse vaginal prolapse pelvic organ prolapse, susceptibility to MONDO:0008314 pronation-supination of the forearm, impairment of pronation-supination of the forearm, impairment of MONDO:0008315 A primary or metastatic malignant tumor involving the prostate gland. The vast majority are carcinomas. prostate neoplasm prostatic neoplasm tumor of the prostate NGP - new growth of prostate cancer of prostate gland malignant neoplasm of prostate malignant neoplasm of prostate gland malignant neoplasm of the prostate malignant prostate gland neoplasm malignant prostate neoplasm malignant prostate tumor malignant tumor of prostate malignant tumor of the prostate prostate gland cancer prostatic cancer hereditary prostate cancer prostate cancer, familial prostate cancer MONDO:0008316 https://github.com/monarch-initiative/mondo/issues/4521 thrombophilia 3 due to protein C deficiency, autosomal dominant thrombophilia due to protein C deficiency, autosomal dominant Proc deficiency, autosomal dominant Protein C deficiency, acquired Protein C deficiency, autosomal dominant THPH3 thrombophilia due to PROTEIN C deficiency, autosomal dominant thrombophilia due to protein C deficiency, autosomal dominant MONDO:0008317 proteolytic capacity of plasma proteolytic capacity of plasma MONDO:0008318 Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 Proteus syndrome Wiedemann's syndrome partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome proteus syndrome, somatic Elattoproteus syndrome gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly hemihypertrophy and macrocephaly partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly Proteus syndrome MONDO:0008319 Erythropoietic protoporphyria caused by a compound heterozygous or homozygous mutation in the gene encoding ferrochelatase (FECH) on chromosome 18q21. erythropoietic protoporphyria protoporphyria, erythropoietic EPP1 ferrochelatase deficiency heme synthetase deficiency protoporphyria, erythropoietic, 1 EPP erythrohepatic protoporphyria protoporphyria, erythropoietic, 1 MONDO:0008320 Protrusio acetabuli (disease) Protrusio acetabuli Protrusio acetabuli (disease) PROTRUSIO acetabuli Protrusio acetabuli MONDO:0008321 pruritus, hereditary localized pruritus, hereditary localized MONDO:0008322 Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis. https://github.com/monarch-initiative/mondo/issues/4948 Pseudoachondroplastic dysplasia Pseudoachondroplastic spondyloepiphyseal dysplasia pseudoachondroplasia pseudoachondroplastic dysplasia spondyloepiphyseal dysplasia, PSEUDOACHONDROPLASTIC PSACH Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome spondyloepiphyseal dysplasia, Pseudoachondroplastic pseudoachondroplasia https://rarediseases.info.nih.gov/diseases/4540/pseudoachondroplasia MONDO:0008323 Liddle syndrome is a rare inherited form of hypertension characterized by severe early-onset hypertension associated with decreased plasmatic levels of potassium, renin and aldosterone. Liddle syndrome Liddle's syndrome pseudoaldosteronism pseudohyperaldosteronism type 1 LIDLS Liddle syndrome https://rarediseases.info.nih.gov/diseases/7381/liddle-syndrome MONDO:0008324 pseudoarthrogryposis ankylosis at elbow and knee hereditary congenital rigidity of elbows and knees pseudoarthrogryposis MONDO:0008325 Pseudoatrophoderma colli Pseudoatrophoderma colli MONDO:0008327 An autosomal dominant disorder caused by mutations in the LOXL1 gene, encoding lysyl oxidase homolog 1. The condition is characterized by abnormal fibrillar extracellular material in anterior segment tissues, and may lead to glaucoma. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 XFG XFS pseudoexfoliation glaucoma pseudoexfoliation syndrome exfoliation syndrome MONDO:0008328 glaucoma 1, open angle, P glaucoma 1, open angle, type P GLC1P glaucoma 1, open angle, P MONDO:0008329 Renal pseudohypoaldosteronism type 1 (renal PHA1) is a mild form of primary mineralocorticoid resistance restricted to the kidney. https://github.com/monarch-initiative/mondo/issues/4521 PHA1A autosomal dominant PHA 1 autosomal dominant pseudohypoaldosteronism type 1 pseudohypoaldosteronism type i, autosomal dominant PHA I, autosomal dominant pseudohypoaldosteronism type 1 autosomal dominant pseudohypoaldosteronism type 1, dominant pseudohypoaldosteronism, type I, autosomal dominant renal PHA1 renal pseudohypoaldosteronism type 1 autosomal dominant pseudohypoaldosteronism type 1 https://rarediseases.info.nih.gov/diseases/9145/autosomal-dominant-pseudohypoaldosteronism-type-1 MONDO:0008330 pseudomonilethrix pseudomonilethrix MONDO:0008332 A bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia. https://github.com/monarch-initiative/mondo/issues/5623 BDPLT3 PT-VWD platelet type-von Willebrand disease platelet-type von Willebrand disease pseudo-von Willebrand disease pseudo-von Willebrand disease type 2B von Willebrand disease platelet-type VWDP Von Willebrand disease, Platelet-type Von Willebrand disease, platelet type bleeding disorder, Platelet-type, 3 platelet-type bleeding disorder 3 pseudo-VON WILLEBRAND disease Editor note: check relationship to vWD platelet-type von Willebrand disease MONDO:0008333 An autosomal dominant form of PXE. pseudoxanthoma elasticum, forme fruste pseudoxanthoma elasticum, heterozygous pseudoxanthoma elasticum, forme fruste https://rarediseases.info.nih.gov/diseases/10104/pseudoxanthoma-elasticum-forme-fruste MONDO:0008334 Any psoriasis in which the cause of the disease is a mutation in the HLA-C gene. https://github.com/monarch-initiative/mondo/issues/4521 HLA-C psoriasis psoriasis 1, susceptibility to psoriasis caused by mutation in HLA-C psoriasis susceptibility 1 PSORS1 susceptibility to psoriasis 1 psoriasis 1, susceptibility to MONDO:0008335 Short stature-craniofacial anomalies-genital hypoplasia syndrome is characterized by the association of short stature, craniofacial anomalies and genital hypoplasia. Intellectual deficit is also found in the majority of cases, sometimes together with pterygia. Less than 20 cases have been described so far. The mode of transmission is likely to be autosomal dominant with incomplete penetrance. The syndrome is caused by unbalanced reciprocal translocations of the distal parts of chromosomes 6q and 9p, leading to partial trisomy of the distal region of chromosome 6q and partial monosomy of the distal region of chromosome 9p. Haspeslagh-Fryns-Muelenaere syndrome Haspeslagh syndrome pterygia intellectual disability facial dysmorphism pterygia mental retardation facial dysmorphism pterygia, intellectual disability and distinctive craniofacial features pterygia, intellectual disability, and distinctive craniofacial features pterygia, mental retardation and distinctive craniofacial features pterygia, mental retardation, and distinctive craniofacial features short stature-craniofacial anomalies-genital hypoplasia syndrome MONDO:0008336 pterygium colli, isolated pterygium colli, isolated MONDO:0008337 Familial pterygium of the conjunctiva is a rare form of pterygium, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision. pterygium of conjunctiva and cornea pterygium of the conjunctiva and cornea familial pterygium of the conjunctiva MONDO:0008338 https://github.com/monarch-initiative/mondo/issues/4521 contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A distal arthrogryposis type 8 multiple pterygium syndrome, autosomal dominant DA8 arthrogryposis, distal, type 8 pterygium syndrome, multiple, autosomal dominant contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A https://rarediseases.info.nih.gov/diseases/13058/autosomal-dominant-multiple-pterygium-syndrome MONDO:0008339 antecubital pterygium syndrome antecubital pterygium pterygium antecubital pterygium, antecubital antecubital pterygium syndrome MONDO:0008340 Congenital ptosis is characterized by superior eyelid drop present at birth. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4810 congenital ptosis (disease) congenital eyelid ptosis congenital ptosis congenital ptosis (disease) ptosis, congenital ptosis, hereditary congenital, 1 PTOS1 ptosis, hereditary congenital 1 ptosis, hereditary congenital, 1 MONDO:0008341 Ptosis-strabismus-ectopic pupils syndrome is characterised by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant. McPherson-Hall syndrome ptosis strabismus ectopic pupils ptosis, strabismus, and ectopic pupils ptosis-strabismus-ectopic pupils syndrome MONDO:0008342 pubic bone dysplasia pubic bone dysplasia MONDO:0008343 Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot. pulmonary atresia with ventricular septal defect pulmonary valve atresia with ventricular septal defect pulmonary atresia with ventricular septal defect https://rarediseases.info.nih.gov/diseases/4588/pulmonary-atresia-with-ventricular-septal-defect MONDO:0008344 https://github.com/monarch-initiative/mondo/issues/4882 pulmonary edema of mountaineers, susceptibility to HAPH high altitude pulmonary hypertension pulmonary edema of mountaineers pulmonary edema of mountaineers, susceptibility to MONDO:0008346 Idiopathic pulmonary hemosiderosis is a respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients. brown induration brown lung idiopathic pulmonary hemosiderosis pulmonary hemosiderosis pulmonary siderosis alveolar hypoventilation syndrome siderosis pulmonary hemosiderosis https://rarediseases.info.nih.gov/diseases/7645/siderosis MONDO:0008347 Idiopathic and/or familial pulmonary arterial hypertension (IFPAH) is a form or pulmonary arterial hypertension (PAH, see his term) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. About 75% of heritable pulmonary arterial hypertension (HPAH) have an identified mutation. HPAH has been linked to mutations in BMPR2 in 75% of cases; other genes implicated in HPAH include ACVR1, BMPR1, CAV1, ENG and SMAD9 and CBLN2. (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown. IFPAH idiopathic and/or familial pulmonary arterial hypertension pulmonary hypertension, primary, type 1 PPH1 pulmonary hypertension, primary, 1 idiopathic and/or familial pulmonary arterial hypertension MONDO:0008348 Pulmonary nodular lymphoid hyperplasia (PNHL) is a reactive lymphoid proliferation manifesting as solitary or multiple nodules in the lung. pulmonary pseudolymphoma pulmonary nodular lymphoid hyperplasia, familial pulmonary nodular lymphoid hyperplasia MONDO:0008349 pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities Ciuffo syndrome pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities MONDO:0008350 pulmonic stenosis and deafness pulmonic stenosis and deafness MONDO:0008352 pupillary membrane, persistence of pupillary membrane, persistence of MONDO:0008353 polymorphic eruption of pregnancy pruritic urticarial papules and plaques of pregnancy PUPPP pruritic urticarial papules and plaques of pregnancy, familial (subtype) pruritic urticarial papules plaques of pregnancy pruritic urticarial papules and plaques of pregnancy MONDO:0008354 purpura simplex purpura simplex MONDO:0008355 https://github.com/monarch-initiative/mondo/issues/4521 IHPS1 pyloric stenosis, infantile hypertrophic 1, multifactorial pyloric stenosis, infantile hypertrophic, 1 pyloric stenosis, infantile pyloric stenosis, infantile hypertrophic pyloric stenosis, infantile hypertrophic, 1 MONDO:0008356 radial heads, posterior dislocation of radial heads, posterior dislocation of MONDO:0008357 A syndrome is characterised by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait. https://github.com/monarch-initiative/mondo/issues/5204 Schmitt Gillenwater Kelly syndrome Schmitt-Gillenwater-Kelly syndrome radial hypoplasia triphalangeal thumbs hypospadias maxillary diastema radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema radial hypoplasia, triphalangeal thumbs and hypospadias radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome MONDO:0008358 Radial ray hypoplasia - choanal atresia is an extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus. Goldblatt-Viljoen syndrome radial RAY hypoplasia with choanal atresia radial ray hypoplasia and choanal atresia radial ray hypoplasia choanal atresia radial ray hypoplasia-choanal atresia syndrome MONDO:0008359 Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983. radial-renal syndrome radio renal syndrome radio-renal syndrome https://rarediseases.info.nih.gov/diseases/224/radio-renal-syndrome MONDO:0008361 radius, aplasia of, with cleft lip/palate radius, aplasia of, with cleft lip/palate MONDO:0008362 ragweed sensitivity ragweed sensitivity MONDO:0008363 raindrop hypopigmentation raindrop hypopigmentation MONDO:0008364 An episodic vasoconstriction resulting in discoloration of the skin and pain in the affected areas, often involving fingers or toes. Classically associated with triphasic color changes (white, blue, red) but may be biphasic. Often occurs in response to cold temperatures or emotional stress. May be primary or secondary to an underlying autoimmune disease. Raynaud disease Raynaud syndrome Raynaud's disease Raynaud's syndrome Raynaud's syndrome (disorder) [ambiguous] secondary Raynaud disease secondary Raynaud phenomenon secondary Raynaud's disease secondary Raynaud's phenomenon cold fingers, hereditary Raynaud disease MONDO:0008365 Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism. Duplication 8q/deletion 8p Rec(8) syndrome Rec8 syndrome Recombinant chromosome 8 syndrome San Luis Valley syndrome RECOMBINANT chromosome 8 syndrome San Luis Valley recombinant chromosome 8 syndrome chromosome 8Q22.1-qter Duplication and 8Pter-p23.1 deletion recombinant 8 syndrome MONDO:0008366 red cell permeability defect elliptocytosis with transverse slitlike changes red cell permeability defect MONDO:0008367 red cell phospholipid defect with hemolysis HPCHA high Red cell phosphatidylcholine hemolytic Anemia leaky Red cell syndrome phosphatidylcholine Red cell Membrane disorder red cell phospholipid defect with hemolysis https://rarediseases.info.nih.gov/diseases/10013/red-cell-phospholipid-defect-with-hemolysis MONDO:0008368 Autosomal dominant distal renal tubular acidosis (AD dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia. https://github.com/monarch-initiative/mondo/issues/4521 AD dRTA autosomal dominant distal renal tubular acidosis (disease) distal renal tubular acidosis (disease), autosomal dominant distal renal tubular acidosis 1 RTA, classic type RTA, distal type, autosomal dominant RTA, gradient type autosomal dominant SLC4A1-associated distal renal tubular acidosis renal tubular acidosis 1 renal tubular acidosis, distal, autosomal dominant autosomal dominant distal renal tubular acidosis MONDO:0008369 Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis. Type 2 RTA Type 2 renal tubular acidosis pRTA renal tubular acidosis type 2 RTA, proximal type RTA, rate type renal tubular acidosis 2 renal tubular acidosis, proximal proximal renal tubular acidosis MONDO:0008371 A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases. Dowling-Degos disease type 1 dark dot disease reticular pigment anomaly of flexures DDD1 Dowling-Degos Kitamura disease Dowling-Degos disease 1 Dowling-Degos disease MONDO:0008372 retinal aplasia amaurosis congenita retinal aplasia MONDO:0008373 retinal arterial tortuosity (disease) retinal arterial tortuosity retinal arterial tortuosity (disease) retinal arteriolar tortuosity retinal hemorrhage with vascular tortuosity tortuosity of retinal arteries RATOR retinal arteries, tortuosity OF retinal arterial tortuosity MONDO:0008374 https://github.com/monarch-initiative/mondo/issues/4521 retinal cone dystrophy-1 RCD1 cone dystrophy autosomal dominant cone dystrophy, autosomal dominant retinal cone Degeneration retinal cone dystrophy 1 retinal cone dystrophy type 1 MONDO:0008375 An eye emergency condition which may lead to blindness if left untreated. It is characterized by the separation of the inner retina layers from the underlying pigment epithelium. Causes include trauma, advanced diabetes mellitus, high myopia, and choroid tumors. Symptoms include sudden appearance of floaters, sudden light flushes, and blurred vision. detached retina retina, detached retinal detachment retinal detachment MONDO:0008376 retinal venous beading retinal venous beading MONDO:0008377 Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP1 gene. https://github.com/monarch-initiative/mondo/issues/5693 RP1 RP1 retinitis pigmentosa retinitis pigmentosa 1 retinitis pigmentosa caused by mutation in RP1 retinitis pigmentosa type 1 RP retinitis pigmentosa retinitis pigmentosa 1 MONDO:0008378 Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP9 gene. RP9 RP9 retinitis pigmentosa retinitis pigmentosa 9 retinitis pigmentosa caused by mutation in RP9 retinitis pigmentosa type 9 RP 9 retinitis pigmentosa 9 https://rarediseases.info.nih.gov/diseases/10382/retinitis-pigmentosa-9 MONDO:0008379 Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPDH1 gene. IMPDH1 retinitis pigmentosa RP10 retinitis pigmentosa 10 retinitis pigmentosa caused by mutation in IMPDH1 retinitis pigmentosa type 10 retinitis pigmentosa 10 MONDO:0008380 A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. Approximately 95% of cases are diagnosed before age 5. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma. https://github.com/monarch-initiative/mondo/issues/2760#issuecomment-894549526 RB RB - retinoblastoma retinoblastoma retinoblastoma, malignant RB1 Rb eye cancer, retinoblastoma retinoblastoma MONDO:0008381 A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life. retinopathy, pericentral pigmentary, dominant dominant pericentral pigmentary retinopathy MONDO:0008382 Autosomal dominant form of retinoschisis. autosomal dominant retinoschisis retinoschisis, autosomal dominant retinoschisis autosomal dominant retinoschisis, autosomal dominant https://rarediseases.info.nih.gov/diseases/9144/retinoschisis-autosomal-dominant MONDO:0008383 A chronic, systemic autoimmune disorder characterized by inflammation in the synovial membranes and articular surfaces. It manifests primarily as a symmetric, erosive polyarthritis that spares the axial skeleton and is typically associated with the presence in the serum of rheumatoid factor. https://github.com/monarch-initiative/mondo/issues/4521 RA arthritis or polyarthritis, rheumatic arthritis, rheumatoid atrophic arthritis autoimmune arthritis rheumatoid arthritis rheumatoid arthritis, progression of rheumatoid arthritis, susceptibility to rheumatoid arthritis MONDO:0008384 A particular variant of polyarthritis associated with early manifestations of palindromic rheumatism, radiologic subchondral bone cysts, and subcutaneous rheumatoid nodules. accelerated rheumatoid nodulosis rheumatoid nodulosis rheumatoid nodulosis https://rarediseases.info.nih.gov/diseases/9625/rheumatoid-nodulosis MONDO:0008385 rhiny craniorhiny rhiny MONDO:0008386 A rare autosomal dominant syndrome linked to mutations in the PITX2 gene. It is characterized by abnormalities in the anterior chamber of the eye and underdevelopment of the teeth. Axenfeld-Rieger syndrome caused by mutation in PITX2 Axenfeld-Rieger syndrome type 1 PITX2 Axenfeld-Rieger syndrome RIEG1 Rieger syndrome type 1 Axenfeld-Rieger syndrome, type 1 Rgs Rieg Rieger syndrome, type 1 Axenfeld-Rieger syndrome type 1 MONDO:0008387 Ring dermoid of cornea is characterised by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition. Ring dermoid syndrome ring dermoid of cornea RDC RING dermoid of cornea bilateral, annular limbal dermoids with corneal and conjunctival extension ring dermoid of cornea https://rarediseases.info.nih.gov/diseases/9696/ring-dermoid-of-cornea MONDO:0008388 Pili annulati is an isolated, benign hair shaft abnormality, usually presenting after the age of 2 and affecting the hair of the scalp or very rarely beard, axillary, or pubic hair, that is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases. pili annulati ringed hair ringed hair disease MONDO:0008389 Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. Robinow syndrome, autosomal dominant Robinow syndrome, autosomal dominant type autosomal dominant Robinow syndrome autosomal dominant Robinow syndrome MONDO:0008390 Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas. Rombo syndrome vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis Rombo syndrome https://rarediseases.info.nih.gov/diseases/4738/rombo-syndrome MONDO:0008391 Robinow-Sorauf syndrome acrocephalosyndactyly, Robinow-Sorauf type craniosynostosis-bifid hallux syndrome Robinow-Sorauf syndrome MONDO:0008392 Roussy-levy syndrome hereditary areflexic dystasia, Roussy-Lévy type hereditary areflexic dystasia, Roussy-levy type Charcot-Marie-Tooth disease (variant) Charcot-Marie-Tooth-Roussy-levy disease HMSN I Roussy levy hereditary areflexic dystasia Roussy levy syndrome Roussy-Lévy syndrome Roussy-levy disease Roussy-levy hereditary areflexic dystasia hereditary areflexic dystasia hereditary motor sensory neuropathy I Roussy-Levy syndrome MONDO:0008393 Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the CREBBP gene. https://github.com/monarch-initiative/mondo/issues/4948 CREBBP Rubinstein-Taybi syndrome RSTS1 Rubinstein-Taybi syndrome 1 Rubinstein-Taybi syndrome caused by mutation in CREBBP Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome type 1 RSTS Rubinstein syndrome broad thumb-hallux syndrome broad thumbs and great toes, characteristic facies, and intellectual disability broad thumbs and great toes, characteristic facies, and mental retardation Rubinstein-Taybi syndrome due to CREBBP mutations MONDO:0008394 Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry. Russell Silver syndrome Russell-Silver dwarfism Russell-Silver syndrome SRS Silver Russell dwarfism Silver Russell syndrome Silver-Russell dwarfism Silver-Russell syndrome Silver-Russell syndrome MONDO:0008395 An extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay. Ruvalcaba syndrome Ruvalcaba syndrome https://rarediseases.info.nih.gov/diseases/4748/ruvalcaba-syndrome MONDO:0008396 Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait. Rutherfurd syndrome corneal dystrophy with gum Hypertrophy corneal dystrophy with gum hypertrophy gingival Hypertrophy with corneal dystrophy gingival hypertrophy corneal dystrophy gingival hypertrophy-corneal dystrophy oculodental syndrome, Rutherfurd type MONDO:0008397 Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation. ALSG aplasia of lacrimal and salivary glands congenital absence of lacrimal puncta and salivary glands parotid aplasia or hypoplasia salivary glands, absence of salivary glands, absence of, include aplasia of lacrimal and salivary glands MONDO:0008398 salivary substance, Clostridium botulinum type salivary substance, Clostridium botulinum type MONDO:0008399 Any sarcoidosis in which the cause of the disease is a mutation in the HLA-DRB1 gene. sarcoidosis HLA-DRB1 sarcoidosis sarcoidosis caused by mutation in HLA-DRB1 sarcoidosis, susceptibility to, 1 sarcoidosis, susceptibility to, type 1 Boeck sarcoid SS1 susceptibility to sarcoidosis 1 sarcoidosis, susceptibility to, 1 MONDO:0008400 Presence of small calculi in the terminal salivary ducts (salivary sand), or stones (larger calculi) found in the larger ducts. salivary duct calculi parotid duct calculi submandibular duct calculi salivary duct calculi MONDO:0008401 A neoplasm characterized by the presence of benign epithelial and myoepithelial cells and a mesenchymal component that may contain mucoid, myxoid, cartilaginous, or osseous areas. It may be completely or partially encapsulated. It occurs in the parotid gland, submandibular gland, minor salivary glands in the oral cavity, upper respiratory tract, and nasal cavity and paranasal sinuses. It usually presents as a slow growing painless mass. Infrequently, patients may present with pain and facial palsy. It may recur after excision or transform to a malignant neoplasm (carcinoma ex pleomorphic adenoma). https://github.com/monarch-initiative/mondo/issues/4521 adenomas, salivary gland pleomorphic, somatic mixed tumor of the salivary gland pleomorphic adenoma pleomorphic adenoma (morphologic abnormality) tumor, mixed, benign Psa Sgpa pleomorphic salivary gland adenoma salivary gland adenoma, pleomorphic pleomorphic adenoma MONDO:0008402 Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadia, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed. Say-Barber-Hobbs syndrome SAY syndrome Say Barber Hobbs syndrome cleft palate large ears small head cleft palate, microcephaly, large ears, and short stature cleft palate-large ears-small head syndrome MONDO:0008403 Scalp defects-postaxial polydactyly syndrome is characterised by congenital scalp defects and postaxial polydactyly type A. congenital scalp defects associated with postaxial polydactyly scalp defects and postaxial polydactyly scalp defects postaxial polydactyly scalp defects-postaxial polydactyly syndrome MONDO:0008404 Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant. Finlay-Marks syndrome scalp-ear-nipple syndrome SENS Sen syndrome hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples scalp ear nipple syndrome scalp-EAR-nipple syndrome scalp-ear-nipple syndrome MONDO:0008406 Autosomal recessive form of Emery-Dreifuss muscular dystrophy. EDMD3 Emery-Dreifuss muscular dystrophy, autosomal recessive autosomal recessive Emery-Dreifuss muscular dystrophy MONDO:0008407 Kaeser syndrome stark-Kaeser syndrome SCPNK scapuloperoneal syndrome, neurogenic type, of Kaeser scapuloperoneal syndrome, neurogenic, Kaeser type neurogenic scapuloperoneal syndrome, Kaeser type https://rarediseases.info.nih.gov/diseases/10312/scapuloperoneal-syndrome-neurogenic-kaeser-type MONDO:0008408 SPSMA neurogenic scapuloperoneal amyotrophy, New England type scapuloperoneal neuronopathy scapuloperoneal spinal muscular atrophy amyotrophy, neurogenic scapuloperoneal, New England type scapuloperoneal spinal muscular atrophy, autosomal dominant MONDO:0008409 MYH7-related late-onset SPMD MYH7-related late-onset scapuloperoneal syndrome MYH7-related scapuloperoneal myopathy SPMD SPMM scapuloperoneal muscular dystrophy scapuloperoneal myopathy, MYH7-related scapuloperoneal syndrome, myopathic type MYH7-related late-onset scapuloperoneal muscular dystrophy MONDO:0008410 A disorder characterized by osteochondrosis of the vertebral epiphyses in childhood. Calve's disease Scheuermann disease Scheuermann's disease Scheuermann's kyphosis Sherman's disease familial Scheuermann juvenile kyphosis familial spinal osteochondrosis juvenile osteochondritis of the spine juvenile osteochondrosis of Scheurermann juvenile osteochondrosis of spine Scheuermann juvenile kyphosis Scheuermann kyphosis familial Scheuermann disease juvenile kyphosis spinal Osteochondrosis Scheuermann disease MONDO:0008411 Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described. https://github.com/monarch-initiative/mondo/issues/4948 Pallister ulnar-mammary syndrome Schinzel syndrome ulnar-mammary syndrome ums ulnar-mammary syndrome of Pallister ulnar-mammary syndrome https://rarediseases.info.nih.gov/diseases/118/ulnar-mammary-syndrome MONDO:0008412 An intestinal infection that is caused by Schistosoma japonicum. Katayama fever schistosomiasis japonica Schistosoma mansoni infection, susceptibility/resistance to Schistosoma mansoni, intensity of infection by intestinal schistosomiasis MONDO:0008414 A schizophrenia that has material basis in an autosomal dominant mutation of SCZD1 on chromosome 5q23-q35. SCZD1 schizophrenia 1 schizophrenia 1 with or without an affective disorder schizophrenia susceptibility locus, chromosome 5-related schizophrenia 1 MONDO:0008416 Huriez syndrome Scleroatrophic syndrome Sclerotylosis palmoplantar hyperkeratosis-sclerodactyly syndrome HRZ HURIEZ syndrome SCLEROTYLOSIS Scleroatrophic and keratotic dermatosis of limbs Tys atrophic fibrosis of the skin of the limbs, hypoplasia of nails, and keratodermia of the palms and soles palmoplantar keratoderma-sclerodactyly syndrome https://rarediseases.info.nih.gov/diseases/8517/palmoplantar-keratoderma-sclerodactyly-syndrome MONDO:0008417 sclerocornea, autosomal dominant sclerocornea, autosomal dominant MONDO:0008418 scleroderma, familial progressive Crest syndrome systemic sclerosis, susceptibility to scleroderma, familial progressive MONDO:0008419 https://github.com/monarch-initiative/mondo/issues/4521 IS1 scoliosis, idiopathic 1 scoliosis, isolated, susceptibility to, 1 adolescent idiopathic scoliosis adolescent isolated scoliosis scoliosis, isolated, susceptibility to, 1 MONDO:0008420 A common benign skin neoplasm usually affecting older individuals. The lesions usually are multiple and arise in the face, chest, and shoulders. They appear as black or brown, slightly elevated skin lesions. https://github.com/monarch-initiative/mondo/issues/4521 basal cell papilloma keratosis Seborrheica keratosis, seborrheic, somatic keratosis, seborrheic seborrheic keratosis MONDO:0008421 Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994. Simosa-Penchaszadeh-Bustos syndrome blepharophimosis-telecanthus-microstomia syndrome SIMOSA craniofacial syndrome Simosa cranio facial syndrome flat face-microstomia-ear anomaly syndrome MONDO:0008422 Autosomal dominant form of sideroblastic anemia. sideroblastic anemia, autosomal dominant SIDBA4 anemia, sideroblastic, 4 anemia, sideroblastic, autosomal dominant autosomal dominant sideroblastic anemia MONDO:0008423 sinus node disease and myopia Sss-myopia syndrome sick sinus syndrome and myopia sinus node disease and myopia https://rarediseases.info.nih.gov/diseases/4880/sinus-node-disease-and-myopia MONDO:0008424 sella turcica, bridged sella turcica, bridged MONDO:0008425 Shprintzen-Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities. https://github.com/monarch-initiative/mondo/issues/5588 Shprintzen omphalocele syndrome Shprintzen-Goldberg omphalocele syndrome laryngeal and pharyngeal hypoplasia with omphalocele omphalocele with hypoplasia of pharynx and larynx, learning disability, dysmorphic facies, and scoliosis omphalocele, laryngeal and pharyngeal hypoplasia, learning disabilities, dysmorphic facies and spinal anomalies pharynx and larynx hypoplasia with omphalocele omphalocele syndrome, Shprintzen-Goldberg type MONDO:0008426 Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5588 Marfanoid craniosynostosis syndrome SGS Shprintzen-Goldberg syndrome Marfanoid disorder with craniosynostosis type 1 Marfanoid disorder with craniosynostosis, type 1 Marfanoid-craniosynostosis syndrome Shprintzen-Goldberg craniosynostosis syndrome Shprintzen-Goldberg marfanoid syndrome craniosynostosis with arachnodactyly and abdominal hernias Shprintzen-Goldberg syndrome MONDO:0008427 sister chromatid exchange, frequency of SCE, frequency of sister chromatid exchange, frequency of MONDO:0008428 Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects. De Morsier syndrome SOD septo-optic dysplasia septo-optic dysplasia sequence septooptic dysplasia Growth hormone deficiency with pituitary anomalies hypopituitarism and septooptic 'dysplasia' pituitary hormone deficiency, combined, 5 septo-optic dysplasia spectrum septo-optic dysplasia with growth hormone deficiency septooptic dysplasia MONDO:0008429 Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male). Singleton-Merten syndrome Merten-Singleton syndrome SGMRT1 SM syndrome singleton Merten syndrome syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness Singleton-Merten dysplasia MONDO:0008430 skeletal dysplasia with delayed epiphyseal and carpal bone ossification skeletal dysplasia with delayed epiphyseal and carpal bone ossification MONDO:0008431 A developmental deformity in which the metaphysis of the femur moves proximally and anteriorly away from femur head (epiphysis) at the upper growth plate. It is most common in male adolescents and is associated with a greater risk of early osteoarthritis of the hip. slipped femoral capital epiphyses epiphysiolysis capitis femoris slipped femoral capital epiphyses MONDO:0008433 Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized byrapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure. https://github.com/monarch-initiative/mondo/issues/4521 SCLC oat cell carcinoma oat cell carcinoma (morphologic abnormality) poorly differentiated endocrine neoplasm lung oat cell carcinoma lung small cell carcinoma lung small cell neuroendocrine carcinoma oat cell carcinoma of lung oat cell carcinoma of the lung oat cell lung carcinoma small cell cancer of the lung, somatic small cell carcinoma of lung small cell carcinoma of the lung small cell lung cancer small cell neuroendocrine carcinoma of lung small cell neuroendocrine carcinoma of the lung small-cell cancer of lung SCLC1 small cell cancer of the lung small cell lung carcinoma MONDO:0008434 Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/5659 17p11.2 microdeletion syndrome Smith-Magenis syndrome Smith-Magenis syndrome, Isolated cases chromosome 17p11.2 deletion syndrome SMITH-Magenis syndrome SMS Smith-Magenis chromosome region Smith-Magenis syndrome chromosome region chromosome 17P11.2 deletion syndrome Smith-Magenis syndrome MONDO:0008435 Somatomedin, embryonic Somatomedin, embryonic MONDO:0008436 Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa. Ehrmann-Sneddon syndrome Sneddon syndrome idiopathic livedo reticularis with systemic involvement livedo racemosa-cerebrovascular accident syndrome livedo reticularis-cerebrovascular accident syndrome Sneddon's syndrome cerebro-vascular lesions and livedo reticularis livedo racemosa and cerebrovascular accidents livedo reticularis and cerebrovascular accidents Sneddon syndrome https://rarediseases.info.nih.gov/diseases/7664/sneddon-syndrome MONDO:0008437 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATL1 gene. https://github.com/monarch-initiative/mondo/issues/4521 ATL1 hereditary spastic paraplegia FSP1 SPG3A Strümpell disease autosomal dominant familial spastic paraplegia 1 autosomal dominant spastic paraplegia 3 autosomal dominant spastic paraplegia type 3 hereditary spastic paraplegia caused by mutation in ATL1 hereditary spastic paraplegia type 3A spastic Paraplegia 3A spastic paraplegia 3a, autosomal dominant strumpell disease Spg3 Strumpell disease familial spastic paraplegia, autosomal dominant, 1 spastic paraplegia 3 spastic paraplegia 3, autosomal dominant hereditary spastic paraplegia 3A MONDO:0008438 Autosomal dominant spastic paraplegia type 4 (SPG4) is a form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset. SPAST hereditary spastic paraplegia SPG4 autosomal dominant spastic paraplegia 4 autosomal dominant spastic paraplegia type 4 hereditary spastic paraplegia 4 hereditary spastic paraplegia caused by mutation in SPAST hereditary spastic paraplegia type 4 FSP2 familial spastic paraplegia autosomal dominant 2 familial spastic paraplegia, autosomal dominant, 2 spastic paraplegia 4 spastic paraplegia 4, autosomal dominant hereditary spastic paraplegia 4 MONDO:0008439 https://github.com/monarch-initiative/mondo/issues/5588 SPEMR spastic paraplegia epilepsy intellectual disability spastic paraplegia epilepsy mental retardation spastic paraplegia, epilepsy, and intellectual disability spastic paraplegia, epilepsy, and mental retardation spemr Editor note: TODO fix GARD spelling spastic paraplegia-epilepsy-intellectual disability syndrome MONDO:0008440 This syndrome is characterised by variable spastic paraplegia, bilateral sensorineural deafness, intellectual deficit and progressive nephropathy. https://github.com/monarch-initiative/mondo/issues/5588 Fitzsimmons-Walson-Mellor syndrome Fitzsimmons Walson Mellor syndrome spastic paraplegia - nephritis - deafness spastic paraplegia, bilateral sensorineural deafness, intellectual retardation, and progressive nephropathy spastic paraplegia, sensorineural deafness, intellectual disability, and progressive nephropathy spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy spastic paraplegia-nephritis-deafness syndrome https://rarediseases.info.nih.gov/diseases/2342/fitzsimmons-walson-mellor-syndrome MONDO:0008441 spastic paraplegia with associated extrapyramidal signs spastic paraplegia with associated extrapyramidal signs MONDO:0008442 Spastic paraplegia-neuropathy-poikiloderma syndrome is a complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992. Antinolo-Nieto-Borrego syndrome familial spastic paraplegia with neuropathy and poikiloderma spastic paraplegia neuropathy poikiloderma spastic paraplegia with neuropathy and poikiloderma spastic paraplegia-neuropathy-poikiloderma syndrome MONDO:0008443 Spastic paraplegia-precocious puberty syndrome is characterized by precocious puberty (due to Leydig cell hyperplasia), progressive spastic paraplegia and intellectual deficit. It has been described in two brothers. The fact that other family members displayed brisk reflexes and dysarthria suggested autosomal dominant inheritance with variable expression. familial spastic paraplegia, intellectual disability, and precocious puberty familial spastic paraplegia, mental retardation, and precocious puberty precocious puberty with spastic paraplegia spastic paraplegia with precocious puberty spastic paraplegia-precocious puberty syndrome MONDO:0008444 spastic paraplegia, optic atrophy, and dementia spastic paraplegia, optic atrophy, and dementia MONDO:0008445 This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases. https://github.com/monarch-initiative/mondo/issues/5588 Mehes syndrome delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe CREASE delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome MONDO:0008446 sperm protamine P4 PRM4 sperm protamine P4 MONDO:0008447 Any hereditary spherocytosis in which the cause of the disease is a mutation in the ANK1 gene. ANK1 hereditary spherocytosis HS1 SPH1 hereditary spherocytosis 1 hereditary spherocytosis caused by mutation in ANK1 Sph spherocytosis, hereditary, 1 spherocytosis, type 1 hereditary spherocytosis type 1 MONDO:0008448 Spheroid body myopathy is a rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non- or slowly progressive), associated with spheroid body inclusions (composed of myofilamentous material within individual muscle fibers) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations. autosomal dominant spheroid body myopathy myopathy, spheroid body spheroid body myopathy https://rarediseases.info.nih.gov/diseases/8711/spheroid-body-myopathy MONDO:0008449 A congenital neural tube defect in which vertebrae are not fully formed. It results in the protrusion of the spinal cord through the opening of the vertebrae. spina bifida (disease) rachischisis spina bifida spina bifida (disease) spinal meningocele spinal myelocele spinal myelomeningocele NTD neural tube defects, susceptibility to spina bifida MONDO:0008450 A chronic adhesive arachnoiditis in the spinal arachnoid, with root and spinal cord symptoms similar to those caused by pressure from a tumor. arachnoiditis, spinal spinal arachnoiditis spinal arachnoiditis MONDO:0008451 An autosomal dominant neurodegenerative disorder characterized by juvenile onset, distal motor weakness without sensory impairment, and anterior horn cell degeneration. Charcot-Marie-Tooth disease, spinal, I autosomal dominant distal juvenile spinal muscular atrophy type 1 dHMN1 distal hereditary motor neuronopathy type I Charcot-Marie-Tooth disease, spinal, 1 HMN 1 HMN1 neuronopathy, distal hereditary motor, type I neuropathy, distal hereditary motor, type 1 spinal muscular atrophy, distal, juvenile, autosomal dominant, 1 neuronopathy, distal hereditary motor, type 1 MONDO:0008452 spinal muscular atrophy, facioscapulohumeral type Fshsma spinal muscular atrophy, facioscapulohumeral type MONDO:0008453 Finkel disease autosomal dominant adult-onset proximal SMA autosomal dominant late-onset spinal muscular atrophy, Finkel type Finkel late-adult type Sma SMAFK autosomal dominant adult-onset proximal spinal muscular atrophy spinal muscular atrophy, late-onset, FINKEL type spinal muscular atrophy, proximal, adult, autosomal dominant adult-onset proximal spinal muscular atrophy, autosomal dominant MONDO:0008454 Spinal intradural arachnoid cysts are cerebrospinal fluid -filled sacs that are located between the spinal cord and the arachnoid membrane (one of the three membranes that cover the brain and spinal cord). The signs and symptoms of the condition vary based on the size and location of the cysts. Some affected people may have no suspicious symptoms while others experience progressive back and leg pain; tingling or numbness in the hands or feet; weakness of the legs; and involuntary muscle spasms (spasticity) that result in slow, stiff movements of the legs. When present, symptoms usually occur when the cysts compress the spinal cord or other nearby nerves. Spinal intradural arachnoid cysts are often present at birth and arecaused by developmental abnormalities in the spinal cord that occur during the pregnancy. They can also result from a previous infection or injury and develop later in life. Although there is disagreement in the medical community regarding when to treat spinal intradural arachnoid cysts, the need for treatment generally depends on the size and location of the cyst and whether or not it is causing symptoms. When indicated, the cysts are typically treated with surgery. spinal intradural arachnoid cysts arachnoid cysts, spinal intradural spinal intradural arachnoid cysts https://rarediseases.info.nih.gov/diseases/9701/spinal-intradural-arachnoid-cysts MONDO:0008455 spinal muscular atrophy, segmental spinal muscular atrophy, segmental MONDO:0008456 spinocerebellar ataxia with rigidity and peripheral neuropathy spinocerebellar ataxia with rigidity and peripheral neuropathy MONDO:0008457 Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus. https://github.com/monarch-initiative/mondo/issues/5753 CACNA1A autosomal dominant cerebellar ataxia type III SCA6 autosomal dominant cerebellar ataxia type III caused by mutation in CACNA1A spinocerebellar ataxia type 6 spinocerebellar ataxia 6 spinocerebellar ataxia type 6 https://rarediseases.info.nih.gov/diseases/10351/spinocerebellar-ataxia-type-6 MONDO:0008458 Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea. ATXN2 autosomal dominant cerebellar ataxia type I OPCA2 SCA2 autosomal dominant cerebellar ataxia type I caused by mutation in ATXN2 spinocerebellar ataxia type 2 ALS13 SCA 2 Wadia swami syndrome Wadia-swami syndrome amyotrophic lateral sclerosis 13 amyotrophic lateral sclerosis type 13 amyotrophic lateral sclerosis, susceptibility to, 13 cerebellar Degeneration with slow eye movements olivopontocerebellar atrophy 2 olivopontocerebellar atrophy Holguin type olivopontocerebellar atrophy, Holguin type spinocerebellar Degeneration with slow eye movements spinocerebellar ataxia 2 spinocerebellar ataxia Cuban type spinocerebellar ataxia with slow eye movements spinocerebellar ataxia, Cuban type spinocerebellar atrophy 2 spinocerebellar ataxia type 2 MONDO:0008459 spinocerebellar atrophy with pupillary paralysis spinocerebellar atrophy with pupillary paralysis MONDO:0008460 Splenogonadal fusion-limb defects-micrognatia syndrome is a rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations. SGFLD syndrome Sgfld syndrome splenogonadal fusion limb defect syndrome splenogonadal fusion limb defects micrognatia splenogonadal fusion limb defects syndrome splenogonadal fusion with limb defects and micrognathia splenogonadal fusion-limb defects-micrognathia syndrome MONDO:0008461 splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells MONDO:0008462 split Lower type lip split lower lip split lower lip MONDO:0008463 split-hand and split-foot with hypodontia split-hand and split-foot with hypodontia MONDO:0008464 Split-hand/foot malformation mapped to chromosome 7q21.3 https://github.com/monarch-initiative/mondo/issues/4948 SHFD1 SHFM1 split hand-foot malformation type 1 split hand/foot malformation 1 split-hand/foot malformation type 1 ectrodactyly split-hand deformity split-hand/foot deformity 1 split-hand/foot malformation 1 split-hand/foot malformation 1 with or without deafness split hand-foot malformation 1 MONDO:0008465 Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies. Patterson-Stevenson syndrome Patterson-Stevenson-Fontaine syndrome split foot deformity-mandibulofacial dysostosis syndrome Patterson Stevenson Fontaine syndrome split-foot deformity with ectrodactyly and mandibulofacial dysostosis split-foot deformity with mandibulofacial dysostosis Patterson-Stevenson-Fontaine syndrome https://rarediseases.info.nih.gov/diseases/4260/patterson-stevenson-fontaine-syndrome MONDO:0008466 Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. Karsch-Neugebauer syndrome split hand/split foot-nystagmus syndrome KNS Nystagmus-split hand syndrome split hand nystagmus syndrome split hand split foot nystagmus split-hand with congenital NYSTAGMUS, fundal changes, and cataracts Karsch-Neugebauer syndrome MONDO:0008467 Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spinabifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects.There have been no further descriptions in the literature since 1987. https://github.com/monarch-initiative/mondo/issues/5588 split hand with obstructive uropathy, spina bifida and diaphragmatic defects split hand-urinary anomalies-spina bifida syndrome split hand urinary anomalies spina bifida split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects Czeizel-Losonci syndrome MONDO:0008468 spondyloarthropathy, susceptibility to, 2 SPDA2 spondyloarthropathy, susceptibility to, 2 MONDO:0008469 A rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings. https://github.com/monarch-initiative/mondo/issues/5280 Whyte Petersen McAlister syndrome Whyte syndrome spondyloepimetaphyseal dysplasia with hypotrichosis spondyloepimetaphyseal dysplasia-hypotrichosis syndrome MONDO:0008470 spondyloepiphyseal dysplasia with punctate corneal dystrophy spondyloepiphyseal dysplasia, Byers type spondyloepiphyseal dysplasia with punctate corneal dystrophy MONDO:0008471 A chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies. https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5285 SED congenita SEDC Spranger-Wiedemann disease spondyloepiphyseal dysplasia congenita spondyloepiphyseal dysplasia, congenital type congenital spondyloepiphyseal dysplasia spondyloepiphyseal dysplasia congenita https://rarediseases.info.nih.gov/diseases/4987/spondyloepiphyseal-dysplasia-congenita MONDO:0008472 Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness. spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome spondyloepiphyseal dysplasia, myopia, and sensorineural deafness spondyloepiphyseal dysplasia, MacDermot type MONDO:0008473 A very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis. https://github.com/monarch-initiative/mondo/issues/2706 https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5280 SED, Maroteaux type pseudo-Morquio syndrome type 2 spondyloepimetaphyseal dysplasia, Maroteaux type spondyloepiphyseal dysplasia Maroteaux type spondyloepiphyseal dysplasia, Maroteaux type brachyolmia Maroteaux type pseudo-Morquio syndrome, type 2 spondyloepimetaphyseal dysplasia, Maroteaux type MONDO:0008474 Autosomal domiant spondyloepiphyseal dysplasia tarda (autosomal dominant SEDT) is an inherited condition that affects bone growth. Signs and symptoms are generally physically apparent by puberty; however, abnormalities may be seen on X-ray at an earlier age. Affected people may have skeletal abnormalities, short stature (with a short neck and trunk, specifically), scoliosis, kyphosis, lumbar hyperlordosis (exaggerated curvature of the lower back), and early-onset progressive osteoarthritis of the hips and knees. Some cases of autosomal dominant SEDT may be caused by changes (mutations) in the COL2A1 gene. As the name suggests, the condition is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include surgery and pain management strategies. autosomal dominant spondyloepiphyseal dysplasia tarda spondyloepiphyseal dysplasia tarda, autosomal dominant spondyloepiphyseal dysplasia tarda, autosomal dominant https://rarediseases.info.nih.gov/diseases/10624/autosomal-dominant-spondyloepiphyseal-dysplasia-tarda MONDO:0008475 A condition in which there is forward displacement of a vertebral bone over the on below it. spondylolisthesis (disease) spondylolisthesis spondylolisthesis (disease) spondylolisthesis MONDO:0008476 A spondyloepimetaphyseal dysplasia characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses). https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5280 spondyloepimetaphyseal dysplasia, Strudwick type SEMD, Strudwick type SEMDSTWK SMED Strudwick type SMED type 1 Semdc SmD Smed, Strudwick type Smed, type 1 Strudwick syndrome dappled metaphysis syndrome spondyloepimetaphyseal dysplasia Strudwick type spondyloepimetaphyseal dysplasia congenita, Strudwick type spondylometaepiphyseal dysplasia congenita, Strudwick type spondylometaphyseal dysplasia spondyloepimetaphyseal dysplasia, Strudwick type https://rarediseases.info.nih.gov/diseases/134/spondyloepimetaphyseal-dysplasia-strudwick-type MONDO:0008477 Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly. https://github.com/monarch-initiative/mondo/issues/4948 spondylometaphyseal dysplasia, Kozlowski type Dysmorphism arthrogryposis skeletal maturation advanced Jequier Kozlowski skeletal dysplasia Jequier-Kozlowski syndrome SMDK SmD Kozlowski type SmD, Kozlowski type skeletal dysplasia Jequier-Kozlowski type spondylometaphyseal dysplasia, Kozlowski type https://rarediseases.info.nih.gov/diseases/3047/spondylometaphyseal-dysplasia-kozlowski-type MONDO:0008478 Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet. https://github.com/monarch-initiative/mondo/issues/4948 spondylometaphyseal dysplasia with severe genu valgum spondylometaphyseal dysplasia, Algerian type spondylometaphyseal dysplasia, Schmidt type Schmid metaphyseal dysostosis spondylometaphyseal dysplasia Algerian type spondylometaphyseal dysplasia Schmidt type spondylometaphyseal dysplasia, Schmidt type MONDO:0008479 A type of skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies). https://github.com/monarch-initiative/mondo/issues/4948 spondylometaphyseal dysplasia, Sutcliffe type SMDCF Sutcliffe SmD Sutcliffe type of spondylometaphyseal dysplasia spondylometaphyseal dysplasia Sutcliffe type spondylometaphyseal dysplasia corner fracture type spondylometaphyseal dysplasia, corner fracture type spondylometaphyseal dysplasia, 'corner fracture' type https://rarediseases.info.nih.gov/diseases/4991/spondylometaphyseal-dysplasia-corner-fracture-type MONDO:0008481 spondylosis, cervical spondylosis, cervical MONDO:0008482 Sprengel deformity (disease) Sprengel deformity Sprengel deformity (disease) high scapula Sprengel's deformity Sprengel's shoulder congenital elevation of the scapula congenital upward displacement of the scapula Sprengel deformity MONDO:0008483 STUT1 stuttering, familial persistent, 1 stammering stuttering, familial persistent, 1 MONDO:0008484 Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia. Teunissen-Cremers syndrome ankylosis of stapes, hyperopia, Broad thumbs, Broad first toes, and syndactyly stapes ankylosis syndrome without symphalangism stapes ankylosis with BROAD thumb and toes stapes ankylosis with broad thumbs and toes MONDO:0008485 Sebocystomatosis is characterized by multiple (100 to 2000) asymptomatic dermal cysts that usually occur on the sternal region, upper back, axillae and proximal parts of the extremities. Steatocystoma multiplex STEATOCYSTOMA multiplex multiple sebaceous cysts multiplex steatocystoma sebaceous cysts, multiple sebocystomatosis MONDO:0008486 The syndrome steatocystoma multiplex and natal teeth is characterized by generalized multiple steatocystomas and natal teeth. Natal teeth and steatocystoma multiplex STEATOCYSTOMA multiplex with NATAL teeth steatocystoma multiplex-natal teeth syndrome MONDO:0008487 A disorder that manifests as multiple cysts on the ovaries. It results in hormonal imbalances and leads to irregular and abnormal menstrual periods, excess growth of hair, acne eruptions and obesity. https://github.com/monarch-initiative/mondo/issues/4521 PCOS Stein-Leventhal synd. Stein-Leventhal syndrome multicystic ovaries polycystic ovarian disease polycystic ovaries polycystic ovary polycystic ovary syndrome PCOS1 polycystic ovary syndrome 1 PCO1 hyperandrogenemia polycystic ovary syndrome MONDO:0008488 Holoprosencephaly-radial heart renal anomalies syndrome is characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder. https://github.com/monarch-initiative/mondo/issues/5588 Steinfeld syndrome STEINFELD syndrome holoprosencephaly radial heart renal anomalies holoprosencephaly-radial heart renal anomalies syndrome https://rarediseases.info.nih.gov/diseases/2727/steinfeld-syndrome MONDO:0008489 sternum, premature obliteration of sutures of sternum, premature obliteration of sutures of MONDO:0008490 A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities. https://github.com/monarch-initiative/mondo/issues/4948 COL11A2 Stickler syndrome OSMED, heterozygous OSMEDA Piere-Robin syndrome Pierre Robin malformation Pierre Robin sequence-fetal chondrodysplasia syndrome Pierre Robin syndrome with fetal chondrodysplasia Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type, formerly Pierre Robin syndrome-fetal chondrodysplasia syndrome STICKLER syndrome, type III STL3 Stickler syndrome caused by mutation in COL11A2 Stickler syndrome, non-ocular type Stickler syndrome, type 3 Stickler syndrome, type III, formerly WZS Weissenbacher-Zweymuller syndrome heterozygous OSMED heterozygous otospondylomegaepiphyseal dysplasia otospondylomegaepiphyseal dysplasia, autosomal dominant Stickler syndrome nonocular type Stickler syndrome, Nonocular type Weissenbacher- Zweymuller syndrome Weissenbacher-Zweymüller syndrome otospondylomegaepiphyseal dysplasia, autosomal dominant MONDO:0008491 Stiff-man syndrome (SMS) is a rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis. https://github.com/monarch-initiative/mondo/issues/5723 Moersch-Woltman syndrome Stiff Person syndrome Stiff man syndrome Stiff-man syndrome stiff man syndrome stiff-person syndrome Morsch Woltman syndrome SMS SPS STIFF-PERSON syndrome Stiff person syndrome and related disorders Stiff-Man syndrome Stiff-trunk syndrome progressive encephalomyelitis with rigidity stiff-person syndrome MONDO:0008492 A rare syndrome characterized by hard, thick skin, usually on the entire body. The thickening of the skin can limit joint mobility and causes joints to be stuck in a bent position (flexion contractures). The onset of signs and symptoms can range from presenting at birth through childhood. Other signs and symptoms may include excessive hair growth (hypertrichosis), loss of body fat (lipodystrophy), scoliosis, muscle weakness, slow growth, and short stature. Weakness or paralysis of the eye muscles have also been reported. Stiff skin syndrome is caused by mutations (changes) in the FBN1 gene and is inherited in an autosomal dominant manner. Diagnosis is based on a clinical evaluation that is consistent with stiff skin syndrome, and the diagnosis can be confirmed with genetic testing. Treatment is based on the symptoms of each individual and may include physical therapy. stiff skin syndrome SSKS STIFF skin syndrome stiff skin syndrome https://rarediseases.info.nih.gov/diseases/5025/stiff-skin-syndrome MONDO:0008493 Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia. overhydrated hereditary stomatocytosis OHS OHST OVERHYDRATED hereditary stomatocytosis Potassium sodium disorder of erythrocyte Potassium-sodium disorder of erythrocyte stomatocytosis 1 stomatocytosis I overhydrated hereditary stomatocytosis MONDO:0008494 A rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade. CHC cryohydrocytosis hereditary cryohydrocytosis with normal stomatin stomatocytosis, cold-sensitive pseudohyperkalemia Cardiff cryohydrocytosis MONDO:0008495 Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. The signs and symptoms include frequent nosebleeds; abnormally heavy or prolonged menstruation ; easy bruising; recurrent anemia ; and abnormal bleeding after surgery, dental work or childbirth. Platelet storage pool deficiencies may be genetic or acquired (non-genetic). They can also be part of an inherited genetic syndrome such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome. Treatment is symptomatic. alpha dense granule deficiency combined alpha-delta platelet storage pool deficiency dense body defect platelet dense granule deficiency platelet storage pool defect alpha delta granule deficiency platelet storage pool diseases storage pool platelet disease platelet storage pool deficiency https://rarediseases.info.nih.gov/diseases/5034/platelet-storage-pool-deficiency MONDO:0008496 storm syndrome pleiotropic, autosomal dominant disorder affecting connective tissue storm syndrome https://rarediseases.info.nih.gov/diseases/5035/storm-syndrome MONDO:0008497 Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait. Stormorken syndrome Thrombocytopathy-asplenia-miosis syndrome thrombocytopathy, asplenia and miosis STRMK Stormorken-Sjaastad-Langslet syndrome Thrombocytopathy asplenia miosis Thrombocytopathy, asplenia, and miosis york Platelet syndrome Stormorken syndrome MONDO:0008498 https://github.com/monarch-initiative/mondo/issues/4882 strabismus, susceptibility to strabismus, susceptibility to, 1 strabismus, susceptibility to MONDO:0008499 Short stature-wormian bones-dextrocardia syndrome is a multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymetry, mild developmental delay, hemimegalencephaly and facial dysmorphism, such as hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia. Stratton-Parker syndrome Growth hormone deficiency with Wormian bones, Cardiac anomaly, and Brachycamptodactyly STRATTON-PARKER syndrome Stratton Parker syndrome short stature wormian bones dextrocardia short stature-wormian bones-dextrocardia syndrome MONDO:0008500 striae distensae, familial striae distensae, familial MONDO:0008501 Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies. https://github.com/monarch-initiative/mondo/issues/4521 Encephalofacial angiomatosis Encephalotrigeminal angiomatosis Encephalotrigeminal syndrome SWS Sturge-Weber disease Sturge-Weber syndrome Sturge-Weber syndrome, somatic, mosaic Sturge-Weber-Dimitri syndrome Sturge-Weber-Krabbe angiomatosis Sturge-Weber-Krabbe syndrome STURGE-WEBER syndrome SWS type I - Facial and leptomeningeal angiomas SWS type II - Facial angioma alone, no CNS involvement SWS type III - isolated leptomeningeal angiomas Sturge Weber syndrome fourth phacomatosis leptomeningeal angiomatosis meningeal capillary angiomatosis Sturge-Weber syndrome https://rarediseases.info.nih.gov/diseases/7706/sturge-weber-syndrome MONDO:0008502 https://github.com/monarch-initiative/mondo/issues/4069 sulfhemoglobinemia, congenital sulfhemoglobinemia, congenital MONDO:0008503 Worster-Drought syndrome (WDS) is a form of cerebral palsy characterized by congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking. Worster-Drought syndrome congenital suprabulbar paresis Worster Drought syndrome suprabulbar paresis congenital suprabulbar paresis, congenital Worster-Drought syndrome https://rarediseases.info.nih.gov/diseases/5598/worster-drought-syndrome MONDO:0008504 SupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (in case of aorta involvement). The narrowing results from a thickening of the artery wall, which is not related to atherosclerosis. https://github.com/monarch-initiative/mondo/issues/4521 supravalvular aortic stenosis (disease) SVAS supra-valvular aortic stenosis supravalvar aortic stenosis supravalvular aortic stenosis supravalvular aortic stenosis (disease) aortic supravalvular stenosis supravalvar aortic stenosis, Eisenberg type supravalvular aortic stenosis MONDO:0008505 surface antigen, glycoprotein 75 surface antigen, glycoprotein type 75 surface glycoprotein 75 surface antigen, glycoprotein 75 MONDO:0008506 symphalangism of toes symphalangism of toes MONDO:0008507 surface polypeptides, anonymous Spa2 Spa5 surface polypeptides, anonymous MONDO:0008508 symphalangism, C. S. Lewis type thumbs, stiff symphalangism, C. S. Lewis type MONDO:0008509 Distal symphalangism is a very rare bone disorder characterized by ankylosis of the distal interphalangeal joints of the hands and/or feet. distal symphalangism (disease) distal symphalangism distal symphalangism (disease) Sym2 symphalangism, distal distal symphalangism MONDO:0008510 Symphalangism with multiple anomalies of hands and feet is an exceedingly rare syndrome described in one family and characterized by proximal symphalangism and multiple hand and feet disorders (syndactyly, clinodactyly, hypoplasia of the thenar and hypothenar eminences, and a distinctive dermatoglyphic pattern). There have been no further descriptions in the literature since 1981. Learman syndrome symphalangism with multiple anomalies of hands and feet symphalangism with multiple anomalies of hands and feet https://rarediseases.info.nih.gov/diseases/5077/symphalangism-with-multiple-anomalies-of-hands-and-feet MONDO:0008511 Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients. proximal symphalangism (disease) Cushing's symphalangism proximal symphalangism proximal symphalangism (disease) symphalangism, Cushing type Strasburger-Hawkins-Eldridge syndrome Strasburger-Hawkins-Eldridge-Hargrave-McKusick syndrome hereditary absence of proximal interphalangeal joints hereditary absence of the proximal interphalangeal joints vessel’s syndrome proximal symphalangism MONDO:0008512 Syndactyly type 1 (SD1), also named zygodactyly in the past, is a distal limb malformation characterized by complete or partial webbing between the 3th and 4th fingers and/or the 2nd and 3rd toes. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 syndactyly, type 1, with or without craniosynostosis SDTY1 Sd1 Zygodactyly chromosome 2q35 DUPLICATION syndrome craniosynostosis, Philadelphia type syndactyly, type 1 syndactyly type 1 MONDO:0008513 Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the HOXD13 gene. https://github.com/monarch-initiative/mondo/issues/4948 HOXD13 non-syndromic synpolydactyly SD2, Vordingborg type SD2a SPD, Vordingborg type SPD1 non-syndromic synpolydactyly caused by mutation in HOXD13 synpolydactyly type 1 synpolydactyly, Vordingborg type syndactyly, type 2 synpolydactyly 1 synpolydactyly with foot anomalies Editors note: check whether is_a: MONDO:0019683 is appropriate synpolydactyly type 1 MONDO:0008514 Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers. https://github.com/monarch-initiative/mondo/issues/4948 GJA1 non-syndromic syndactyly SD3 non-syndromic syndactyly caused by mutation in GJA1 syndactyly of fingers 4 and 5 Ring and Little finger syndactyly Sdty3 syndactyly of fingers four and five syndactyly of the ring and little finger syndactyly, type 3 syndactyly, type III syndactyly type 3 https://rarediseases.info.nih.gov/diseases/5088/syndactyly-type-3 MONDO:0008515 A very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5). https://github.com/monarch-initiative/mondo/issues/4948 LMBR1 non-syndromic syndactyly non-syndromic syndactyly caused by mutation in LMBR1 polysyndactyly, Haas type Haas type syndactyly SDTY4 Sd4 polysyndactyly type Haas syndactyly, type 4 syndactyly, type IV syndactyly type 4 https://rarediseases.info.nih.gov/diseases/4434/syndactyly-type-4 MONDO:0008516 Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits. https://github.com/monarch-initiative/mondo/issues/4948 SD5 postaxial syndactyly with metacarpal synostosis SDTY5 syndactyly with associated metacarpal and metatarsal fusion syndactyly with metacarpal and metatarsal fusion syndactyly, type 5 syndactyly, type V syndactyly type 5 https://rarediseases.info.nih.gov/diseases/5089/syndactyly-type-5 MONDO:0008517 Spel syndrome hallux syndactyly ulnar polydactyly abnormal ear lobes syndactyly-polydactyly-earlobe syndrome syndactyly-polydactyly-ear lobe syndrome MONDO:0008518 A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet. calcaneonavicular coalition multiple synostosis syndrome synostoses, tarsal, carpal and digital synostoses, tarsal, carpal, and digital calcaneonavicular coalition MONDO:0008519 Any multiple synostoses syndrome in which the cause of the disease is a mutation in the NOG gene. https://github.com/monarch-initiative/mondo/issues/4948 NOG multiple synostoses syndrome multiple synostoses syndrome 1 multiple synostoses syndrome caused by mutation in NOG multiple synostoses syndrome caused by mutation in nog multiple synostoses syndrome type 1 nog multiple synostoses syndrome SYNS1 Wl syndrome deafness-symphalangism syndrome of Herrmann facioaudiosymphalangism syndrome symphalangism brachydactyly syndrome symphalangism-brachydactyly syndrome synostoses multiple with brachydactyly synostoses, multiple, with brachydactyly multiple synostoses syndrome 1 MONDO:0008520 Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported. https://github.com/monarch-initiative/mondo/issues/4948 Liebenberg syndrome brachydactyly-joint dysplasia syndrome LBNBG LIEBENBERG syndrome brachydactyly elbow wrist dysplasia brachydactyly with Joint dysplasia brachydactyly with joint dysplasia carpal synostosis with dysplastic elbow joints and brachydactyly synostosis, carpal, with dysplastic elbow joints and brachydactyly brachydactyly-elbow wrist dysplasia syndrome https://rarediseases.info.nih.gov/diseases/966/brachydactyly-elbow-wrist-dysplasia MONDO:0008521 Tarsal-carpal coalition syndrome is characterised by fusion of the carpals, tarsals, and phalanges. tarsal-carpal coalition syndrome TCC synostosis of talus and calcaneus with short stature tarsal carpal coalition syndrome tarsal-carpal coalition syndrome https://rarediseases.info.nih.gov/diseases/9225/tarsal-carpal-coalition-syndrome MONDO:0008522 synovial chondromatosis, familial, with dwarfism synovial chondromatosis, familial with dwarfism synovial chondromatosis, familial, with dwarfism https://rarediseases.info.nih.gov/diseases/7720/synovial-chondromatosis-familial-with-dwarfism MONDO:0008523 Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease. BLAUS Blau syndrome EOS Jabs syndrome arthrocutaneouveal granulomatosis early-onset sarcoidosis granulomatosis, familial juvenile systemic granulomatosis, familial, Blau type granulomatous inflammatory arthritis, dermatitis, and uveitis, familial pediatric granulomatous arthritis sarcoidosis, early-onset ACUG synovitis granulomatous with uveitis and cranial neuropathies synovitis, granulomatous, with uveitis and cranial neuropathies Blau syndrome https://rarediseases.info.nih.gov/diseases/304/blau-syndrome MONDO:0008524 syringomas, multiple syringomas, multiple MONDO:0008525 syringomyelia, isolated syringomyelia, noncommunicating isolated syringomyelia, isolated MONDO:0008526 talonavicular coalition talonavicular coalition https://rarediseases.info.nih.gov/diseases/10062/talonavicular-coalition MONDO:0008527 tarsal coalition tarsal fusion tarsal coalition MONDO:0008528 tear protein, anodal tear protein, anodal MONDO:0008529 T-cell Subgroups, non-HLA-linked T-cell Subgroups, non-HLA-linked MONDO:0008530 teeth, odd shapes of Lobodontia conical teeth, multiple teeth, odd shapes of MONDO:0008532 teeth present at birth (disease) teeth present at birth teeth present at birth (disease) Natal teeth teeth present AT birth teeth present at birth MONDO:0008533 An extra tooth, erupted or unerupted, resembling or unlike the other teeth in the group to which it belongs. Its presence may cause malposition of adjacent teeth or prevent their eruption. teeth, supernumerary teeth, supernumerary MONDO:0008534 GET Hbt telangiectasia, generalized essential telangiectasia, hereditary benign generalized essential telangiectasia MONDO:0008535 HHT1 hereditary hemorrhagic telangiectasia type 1 telangiectasia, hereditary hemorrhagic, of Rendu, Osler, and Weber telangiectasia, hereditary hemorrhagic, type 1 ENG-related Hereditary hemorrhagic telangiectasia HHT ORW disease Osler Weber Rendu syndrome type 1 Osler-Rendu-Weber disease telangiectasia, hereditary hemorrhagic, of RENDU, Osler, and WEBER telangiectasia, hereditary hemorrhagic, type 1 MONDO:0008536 temperature-sensitive lethal mutation temperature-sensitive lethal mutation MONDO:0008537 telecanthus telecanthus MONDO:0008538 Giant cell arteritis (GCA) is a large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries. Horton disease Horton's disease giant cell arteritis inflammation of temporal artery temporal arteritis temporal artery inflammation GCA Horton's arteritis Horton's giant cell arteritis Horton's temporal arteritis Horton’s disease Horton’s syndrome arteritis cranialis arteritis temporalis cranial arteritis polymyalgia rheumatica temporal arteritis MONDO:0008540 Hapnes-Boman-Skeie syndrome Hapnes Boman Skeie syndrome anomalous insertion of extensor tendons of fingers tendons, extensor, of fingers, anomalous insertion OF extensor tendons of finger anomalies MONDO:0008541 An emergency condition caused by the twisting of the spermatic cord which contains the vessels that provide the blood supply to the testis and surrounding structures. It manifests with acute testicular pain. If immediate medical assistance is not provided, it will lead to necrosis and loss of the testicular tissue. testicular torsion torsion of testicle torsion of testis torsion of testicular cord spermatic cord torsion MONDO:0008542 Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy. tetralogy of fallot ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle Fallot tetralogy TOF tetralogy of FALLOT tetralogy of fallot https://rarediseases.info.nih.gov/diseases/2245/tetralogy-of-fallot MONDO:0008543 tetralogy of fallot and glaucoma familial tetralogy of fallot and glaucoma tetralogy of fallot and glaucoma https://rarediseases.info.nih.gov/diseases/10107/tetralogy-of-fallot-and-glaucoma MONDO:0008544 Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992. Sommer-Hines syndrome tetramelic monodactyly Sommer Hines syndrome tetramelic monodactyly with autosomal dominant inheritance tetramelic monodactyly https://rarediseases.info.nih.gov/diseases/3707/tetramelic-monodactyly MONDO:0008545 thalassemia, beta+, silent allele thalassemia, beta+, silent allele MONDO:0008546 Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly. https://github.com/monarch-initiative/mondo/issues/4948 TD1 thanatophoric dwarfism type 1 thanatophoric dysplasia, type 1 type 1 thanatophoric dysplasia PLSD San Diego type Platyspondylic lethal skeletal dysplasia, San Diego type lethal short-limbed Platyspondylic dwarfism, San Diego type thanatophoric dwarfism thanatophoric dwarfism 1 thanatophoric dysplasia thanatophoric dysplasia type I thanatophoric dysplasia, type I thanatophoric dysplasia type 1 MONDO:0008547 Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs. https://github.com/monarch-initiative/mondo/issues/4948 TD2 cloverleaf skull-micromelic bone dysplasia syndrome thanatophoric dwarfism type 2 thanatophoric dwarfism-cloverleaf skull syndrome thanatophoric dysplasia, type 2 type 2 thanatophoric dysplasia cloverleaf skull with thanatophoric dwarfism thanatophoric dwarfism - cloverleaf skull thanatophoric dysplasia type II thanatophoric dysplasia with Kleeblattschaedel thanatophoric dysplasia with straight femurs and cloverleaf skull thanatophoric dysplasia, type II thanatophoric dysplasia type 2 https://rarediseases.info.nih.gov/diseases/1402/thanatophoric-dysplasia-type-2 MONDO:0008549 thoracic dysostosis, isolated thoracic dysostosis, isolated MONDO:0008551 A short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis. https://github.com/monarch-initiative/mondo/issues/4948 Barnes syndrome thoracolaryngopelvic dysplasia THORACOLARYNGOPELVIC dysplasia THORACOPELVIC dysostosis TLPD autosomal dominant thoracolaryngopelvic dysplasia thoracolaryngopelvic dysplasia MONDO:0008552 An inherited blood coagulation disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has material basis in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32. https://github.com/monarch-initiative/mondo/issues/4521 autosomal dominant Glanzmann thrombasthenia autosomal dominant thrombasthenia of Glanzmann and Naegeli bleeding disorder, platelet-type, 16, autosomal dominant platelet-type bleeding disorder 16 BDPLT16 Glanzmann thrombasthenia, autosomal dominant bleeding disorder, platelet-type, 16 thrombasthenia of Glanzmann and Naegeli, autosomal dominant platelet-type bleeding disorder 16 MONDO:0008553 An autosomal dominant condition caused by mutation(s) in the GFI1B gene, encoding zinc finger protein Gfi-1b. It is characterized by a tendency for increased bleeding due to abnormal platelet function. BDPLT17 GFI1B inherited bleeding disorder, platelet-type bleeding disorder, platelet-type 17 hereditary thrombasthenia-thrombocytopenia inherited bleeding disorder, platelet-type caused by mutation in GFI1B platelet-type bleeding disorder 17 bleeding disorder, platelet-type, 17 thrombasthenia-thrombocytopenia, hereditary platelet-type bleeding disorder 17 MONDO:0008554 https://github.com/monarch-initiative/mondo/issues/230 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 thrombocythemia 1 thrombocythemia type 1 thrombocythemia, somatic THCYT1 thrombocytosis 1 thrombocythemia 1 MONDO:0008555 An autosomal dominant disorder caused by mutation(s) in the ANKRD26 gene, encoding ANKRD26 protein. Additionally, in one family, a mutation(s) has been identified in the MASTL gene, encoding serine/threonine-protein kinase greatwall. The condition is characterized by mild to moderate bruisability. thrombocytopenia 2 thrombocytopenia type 2 THC2 thrombocytopenia autosomal dominant 2 thrombocytopenia, autosomal dominant, 2 thrombocytopenia 2 https://rarediseases.info.nih.gov/diseases/5191/thrombocytopenia-2 MONDO:0008556 thrombocytopenia, cyclic cyclic thrombocytopenia thrombocytopenia cyclic thrombocytopenia, cyclic https://rarediseases.info.nih.gov/diseases/9862/cyclic-thrombocytopenia MONDO:0008557 Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis. https://github.com/monarch-initiative/mondo/issues/4521 thrombocytopenia, Paris-Trousseau type, Isolated cases Paris-Trousseau syndrome TCPT chromosome 11q23 deletion syndrome thrombocytopenia Paris-Trousseau type thrombocytopenia, Paris-TROUSSEAU type Paris-Trousseau thrombocytopenia https://rarediseases.info.nih.gov/diseases/4224/paris-trousseau-thrombocytopenia MONDO:0008558 An autoimmune disorder in which the number of circulating platelets is reduced due to their antibody-mediated destruction. ITP is a diagnosis of exclusion and is heterogeneous in origin. ITP autoimmune thrombocytopenic purpura idiopathic thrombocytopenia idiopathic thrombocytopenia purpura idiopathic thrombocytopenic purpura immune thrombocytopenia primary thrombocytopenic purpura thrombocytopenic purpura, autoimmune AITP Werlhof's disease ideopath thrombocytopenic pur idiopathic purpura immune thrombocytopenic purpura thrombocytopenic purpura autoimmune autoimmune thrombocytopenic purpura MONDO:0008559 The formation of a blood clot (thrombus) in the lumen of a vein. https://github.com/monarch-initiative/mondo/issues/4521 Venous thromboembolism thrombophilia 1 due to thrombin defect thrombophilia due to thrombin defect venous thromboembolism, susceptibility to venous thrombosis, protection against THPH1 factor II-related thrombophilia hyperprothrombinemia prothrombin 20210G>A thrombophilia prothrombin G20210A thrombophilia prothrombin thrombophilia prothrombin-related thrombophilia thromboembolism, susceptibility to thrombophilia due to Factor 2 defect thrombosis, protection against venous thrombosis thrombophilia due to thrombin defect MONDO:0008560 A hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). The activated form of Factor V (Factor Va) is more slowly degraded by activated protein C. Factor V Leiden mutation (R506Q) is the most common cause of APC resistance. https://github.com/monarch-initiative/mondo/issues/4521 thrombophilia 2 due to activated protein C resistance thrombophilia due to activated protein C resistance APC resistance Activated Protein C resistance Pccf deficiency Proc cofactor deficiency THPH2 resistance, APC thrombophilia 5 thrombophilia due to ACTIVATED PROTEIN C resistance thrombophilia due to Factor 5 Leiden thrombophilia due to deficiency of Activated Protein C cofactor thrombophilia, susceptibility to, due to factor V Leiden thrombophilia due to activated protein C resistance MONDO:0008561 thumb deformity (disease) thumb deformity thumb deformity (disease) thumb absent or hypoplastic thumb hypoplastic thumb deformity MONDO:0008562 Thumb deformity-alopecia-pigmentation anomaly syndrome is a rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally-placed thumbs, and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988. congenital deformity of the thumb and congenital alopecia hypotrichosis associated with congenital hypoplasia of the thumb sparse hair, short stature, hypoplastic thumbs, single upper central incisor and abnormal skin pigmentation thumb deformity and alopecia thumb deformity, alopecia, pigmentation anomaly thumb deformity-alopecia-pigmentation anomaly syndrome MONDO:0008563 Thumb stiffness-brachydactyly-intellectual disability syndrome is characterized by intellectual deficit, mild dysmorphism, type A brachydactylia, signs of obesity and ankylosis of both thumbs. It has been reported in several females from one family (a girl and her mother, her grandmother and probably also her sister and her great-aunt), as well as in an isolated case. Piussan-Lenaerts-Mathieu syndrome Thumb ankylosis with intellectual disability Thumb ankylosis with mental retardation thumb stiff brachydactyly intellectual disability thumb stiff brachydactyly mental retardation thumbs, STIFF, with brachydactyly type A1 and developmental delay thumb stiffness-brachydactyly-intellectual disability syndrome MONDO:0008564 A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly. 22q deletion syndrome(s) 22q11.2 Deletion syndrome DGS DGS1 Di-George syndrome DiGeorge anomaly DiGeorge syndrome DiGeorge syndrome type 1 DiGeorge's syndrome pharyngeal pouch syndrome Shprintzen syndrome Sphrintzen Catch22 DiGeorge syndrome chromosome region Takao VCF syndrome VCF chromosome 22Q11.2 deletion syndrome hypoplasia of thymus and parathyroids third and fourth pharyngeal pouch syndrome velo-cardio-facial syndrome velocardiofacial syndrome DiGeorge syndrome MONDO:0008565 Familial thyroglossal duct cyst (TDC) is a very rare inherited form of TDC characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck. hereditary thyroglossal duct cyst hereditary thyroglossal duct cysts thyroglossal duct cyst, familial thyroglossal duct cysts thyroglossal duct cysts familial familial thyroglossal duct cyst https://rarediseases.info.nih.gov/diseases/5204/familial-thyroglossal-duct-cyst MONDO:0008566 https://github.com/monarch-initiative/mondo/issues/4521 thyroid cancer, nonmedullary, 2 thyroid cancer, nonmedullary, 2, autosomal dominant, somatic mutation thyroid cancer, nonmedullary, type 2 thyroid carcinoma, follicular, autosomal dominant, somatic mutation thyroid carcinoma, follicular, somatic FTC NMTC2 thyroid cancer, follicular thyroid carcinoma, follicular thyroid cancer, nonmedullary, 2 MONDO:0008567 thyroid cancer, nonmedullary, 1 thyroid cancer, nonmedullary, type 1 NMTC1 familial nonmedullary thyroid cancer, papillary nonmedullary thyroid carcinoma, papillary papillary carcinoma of thyroid thyroid cancer, nonmedullary, 1 MONDO:0008568 thyroid hormone plasma membrane transport defect defect hyperthyroxinemia, Eumetabolic, due to T4 plasma Membrane Transport thyroid hormone resistance due to T4 plasma Membrane Transport defect thyroid hormone plasma membrane transport defect https://rarediseases.info.nih.gov/diseases/8499/thyroid-hormone-plasma-membrane-transport-defect MONDO:0008569 https://github.com/monarch-initiative/mondo/issues/4521 thyroid hormone resistance thyroid hormone resistance, generalized, autosomal dominant GRTH Gthr hyperthyroxinemia, familial euthyroid, secondary to pituitary and peripheral resistance to thyroid hormones thyroid hormone unresponsiveness thyroid hormone resistance, generalized, autosomal dominant MONDO:0008570 Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the CACNA1S gene. https://github.com/monarch-initiative/mondo/issues/4882 CACNA1S thyrotoxic periodic paralysis thyrotoxic periodic paralysis caused by mutation in CACNA1S thyrotoxic periodic paralysis, susceptibility to, 1 thyrotoxic periodic paralysis, susceptibility to, type 1 TTPP1 thyrotoxic periodic paralysis, susceptibility to, 1 MONDO:0008571 Blount disease, infantile Osteochondrosis deformans tibiae, infantile tibia vara, infantile Blount disease, infantile MONDO:0008572 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5501 Werner mesomelic syndrome absent tibia-polydactyly syndrome hypoplastic or aplastic tibia with polydactyly hypoplastic tibiae-postaxial polydactyly syndrome tibia, hypoplasia or aplasia of, with polydactyly THYP absence of tibia with polydactyly polydactyly with absent tibia tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome tibia, hypoplasia or aplasia of, with polydactyly MONDO:0008573 tibial torsion, bilateral medial tibial torsion, bilateral medial MONDO:0008575 Physical and psychological dependence on nicotine. https://github.com/monarch-initiative/mondo/issues/4521 nicotine addiction tobacco use disorder nicotine dependence MONDO:0008576 toe, fifth, number of phalanges type 1N toe, fifth, number of phalanges IN toe, fifth, number of phalanges 1N MONDO:0008577 toe, misshapen toe, misshapen MONDO:0008578 toe, rotated fifth toe, rotated fifth MONDO:0008579 toes, relative length of first and second toes, relative length of first and second MONDO:0008580 toes, space between first and second toes, space between first and second MONDO:0008581 malposition of teeth with or without hypodontia/oligodontia ectopic eruption of teeth malposition of teeth with or without hypodontia/oligodontia MONDO:0008582 Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia. HND Witkop syndrome Witkop's syndrome hypodontia and nail dysplasia hypodontia with nail dysplasia hypodontia-nail dysgenesis syndrome hypodontia-nail dysplasia hypoplastic enamel-onycholysis-hypohidrosis syndrome tooth and nail syndrome TNS WITKOP syndrome dysplasia of nails with hypodontia ectodermal dysplasia 3, Tooth/nail type ectodermal dysplasia 3, Witkop type hypodontia - dysplasia of nails hypodontia-dysplasia of nails syndrome nail dysplasia with hypodontia tooth-and-nail syndrome tooth and nail syndrome MONDO:0008583 A congenital benign lesion that occurs in the distal sternocleidomastoid muscle of infants. It is characterized by the presence of plump spindle cells, and collagenous stroma formation. inherited torticollis (disease) congenital torticollis fibromatosis colli inherited torticollis (disease) torticollis congenital muscular torticollis congenital sternomastoid torticollis congenital wry neck congenital wryneck contracture of sternocleidomastoid muscle familial spasmodic torticollis familial torticollis torticollis, congenital torticollis, familial inherited torticollis https://rarediseases.info.nih.gov/diseases/4908/congenital-torticollis MONDO:0008584 torus palatinus and torus mandibularis torus palatinus and torus mandibularis MONDO:0008585 A life-threatening condition that can potentially complicate pregnancy. It is named for 3 features of the condition: H emolysis, E levated L iver enzyme levels, and L ow P latelet levels. It typically occurs in the last 3 months of pregnancy (the third trimester) but can also start soon after delivery. A wide range of non-specific symptoms may be present in women with HELLP syndrome. Symptoms may include fatigue; malaise; fluid retention and excess weight gain; headache; nausea and vomiting; pain in the upper right or middle of the abdomen; blurry vision; and rarely, nosebleed or seizures. The cause of HELLP syndrome is not known, but certain risk factors have been associated with the condition. It is most common in women with preeclampsia or eclampsia. If not diagnosed and treated quickly, HELLP syndrome can lead to serious complications for the mother and baby.The main treatment is to deliver the baby as soon as possible, even if premature. Treatment may also include medications needed for the mother or baby, and blood transfusion for severe bleeding problems. hemolysis, elevated liver enzymes, low platelets in pregnancy hemolysis-elevated liver enzymes-low platelet count syndrome hemolysis-elevated liver enzymes-low platelets syndrome PEE1 PREECLAMPSIA/eclampsia 1 PREG1 hemolysis, elevated liver enzymes, and low platelet count hemolysis, elevated liver enzymes, lowered platelets hypertension, pregnancy-induced toxemia of pregnancy HELLP syndrome https://rarediseases.info.nih.gov/diseases/8528/hellp-syndrome MONDO:0008586 Oesophageal atresia (OA) encompasses a group of congenital anomalies with an interruption in the continuity of the oesophagus, with or without persistent communication with the trachea. esophageal atresia and/or tracheoesophageal fistula tracheoesophageal fistula with or without esohageal atresia TEF esophageal atresia with or without tracheoesophageal fistula te fistula tracheoesophageal fistula tracheoesophageal fistula with or without esophageal atresia esophageal atresia/tracheoesophageal fistula MONDO:0008587 Tracheobronchopathia osteochondroplastica (TO) is an idiopathic and benign disease of the large airways characterized by submucosal osteocartilaginous nodules presenting in the trachea with or without the involvement of the major bronchi. tracheobronchopathia osteochondroplastica tracheopathia osteoplastica cartilaginous or bony projections into the tracheobronchial lumen tracheobronchopathia osteoplastica tracheobronchopathia osteochondroplastica MONDO:0008588 Hereditary geniospasm is a movement disorder characterized by episodes of involuntary tremor of the chin and lower lip. familial trembling of the chin hereditary chin myoclonus hereditary chin-trembling GSM 1 GSM1 geniospasm geniospasm 1 hereditary chin tremor/myoclonus trembling Chin hereditary geniospasm https://rarediseases.info.nih.gov/diseases/9501/hereditary-geniospasm MONDO:0008589 tremor of intention, ataxia, and lipofuscinosis tremor of intention, ataxia, and lipofuscinosis MONDO:0008590 Any essential tremor in which the cause of the disease is a mutation in the DRD3 gene. https://github.com/monarch-initiative/mondo/issues/4521 DRD3 essential tremor essential tremor caused by mutation in DRD3 essential tremor, hereditary, 1 tremor, hereditary essential, 1 tremor, hereditary essential, type 1 ETM1 FET1 tremor familial essential, 1 tremor hereditary essential, 1 tremor, familial essential, 1 tremor, hereditary essential, 1 MONDO:0008591 Neuhauser-Daly-Magnelli syndrome Neuhauser Daly Magnelli syndrome tremor nystagmus duodenal ulcer tremor, NYSTAGMUS, and duodenal ulcer tremor-nystagmus-duodenal ulcer syndrome MONDO:0008592 Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterised by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 TDO syndrome trichodontoosseous syndrome TDO TDO syndrome 1 TRICHODENTOOSSEOUS syndrome Tricho-dento-osseous syndrome 1 enamel hypoplasia and hypocalcification with associated strikingly curly hair kinky or curly hair, dolichocephaly, enamel hypoplasia, increased dental caries, radial dense bones, and brittle nails tricho-dento-osseous syndrome https://rarediseases.info.nih.gov/diseases/7799/tricho-dento-osseous-syndrome MONDO:0008593 trichomegaly TCMGLY eyelashes, long trichomegaly MONDO:0008594 A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominently located on the face, ears, neck and trunk, not associated with systemic organ involvement, associated malignancies or FLCN gene locus mutation. FMDF discoid fibromas, familial multiple familial multiple trichodiscomas hereditary multiple trichodiscomas small benign fibrovascular tumor of the dermal part of the hair disk trichodiscomas, familial multiple familial multiple discoid fibromas MONDO:0008595 trichoepitheliomas, multiple desmoplastic trichoepitheliomas, multiple desmoplastic MONDO:0008596 An autosomal dominant malformation syndrome caused by mutations in TRPS1 characterized by distinctive craniofacial and skeletal abnormalities. TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature. https://github.com/monarch-initiative/mondo/issues/4948 Sugio-Kajii syndrome trichorhinophalangeal syndrome type I type I trichorhinophalangeal syndrome type III trichorhinophalangeal syndrome Giedion syndrome TRPS 1 TRPS1 trichorhinophalangeal dysplasia type I trichorhinophalangeal syndrome type 1 trichorhinophalangeal syndrome, type 1 trichorhinophalangeal syndrome, type I trichorhinophalangeal syndrome type I MONDO:0008597 A trichorhinophalangeal syndrome caused by mutations in TRPS1 characterized by the presence of severe brachydactyly, due to short metacarpals, and severe short stature. https://github.com/monarch-initiative/mondo/issues/4948 trichorhinophalangeal syndrome, type III Sugio-Kajii syndrome TRPS 3 TRPS3 trichorhinophalangeal syndrome type 3 trichorhinophalangeal syndrome, type 3 trichorhinophalangeal syndrome, type III MONDO:0008598 Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987. trichodysplasia xeroderma trichodysplasia-xeroderma trichodysplasia-xeroderma syndrome MONDO:0008599 Trigeminal neuralgia is a nerve disorder that causes a stabbing or electric-shock-like pain in parts of the face. The pain lasts a few seconds to a few minutes, and usually on only one side of the face. It can also cause muscle spasms in the face the same time as the pain. The pain may result from a blood vessel pressing against the trigeminal nerve (the nerve that carries pain, feeling, and other sensations from the brain to the skin of theface), as a complication of multiple sclerosis, or due to compression of the nerve by a tumor or cyst. In some cases, the cause is unknown. Treatment options include medicines, surgery, and complementary approaches. neuralgia of trigeminal nerve trifacial neuralgia trifocal neuralgia trigeminal nerve neuralgia trigeminal neuralgia Tic douloureux trigeminal neuralgia https://rarediseases.info.nih.gov/diseases/7805/trigeminal-neuralgia MONDO:0008600 A painful disability in the hand affecting the finger or thumb. It is caused by mechanical impingement of the digital flexor tendons as they pass through a narrowed retinacular pulley at the level of the metacarpal head. Thickening of the sheath and fibrocartilaginous metaplasia can occur, and nodules can form. (From Green's Operative Hand Surgery, 5th ed, p2137-58). trigger thumb bilateral trigger thumb (type) congenital trigger thumb (type) recurrent trigger thumb (type) trigger thumb https://rarediseases.info.nih.gov/diseases/8484/trigger-thumb MONDO:0008601 triglyceride storage disease, type I triglyceride storage disease, type 1 MONDO:0008602 triglyceride storage disease, type II triglyceride storage disease, type 2 MONDO:0008603 Any isolated trigonocephaly in which the cause of the disease is a mutation in the FGFR1 gene. FGFR1 isolated trigonocephaly isolated trigonocephaly caused by mutation in FGFR1 trigonocephaly 1 trigonocephaly type 1 TRIGNO1 craniosynostosis, metopic trigonocephaly 1 MONDO:0008604 triphalangeal thumb with double phalanges triphalangeal thumb with double phalanges MONDO:0008605 triphalangeal thumb, Nonopposable TPT non-opposable triphalangeal thumb triphalangeal thumb non opposable triphalangeal thumb, Nonopposable MONDO:0008606 Say-Field-Coldwell syndrome is characterised by triphalangeal thumbs, brachydactyly, camptodactyly, recurrent dislocation of the patellas and relatively short stature. It has been described in a mother and her three daughters. triphalangeal thumbs-dislocation of patella syndrome polydactyly with triphalangeal thumbs, brachydactyly, camptodactyly, congenital dislocation of the patellas, short stature and borderline intelligence triphalangeal thumbs and dislocation of patella Say-field-Coldwell syndrome https://rarediseases.info.nih.gov/diseases/242/say-field-coldwell-syndrome MONDO:0008607 Triphalangeal thumbs-brachyectrodactyly syndrome is characterised by triphalangeal thumbs and brachydactyly of the hands. It has been described in four families and in one isolated case. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant. Carnevale-Hernández-del Castillo syndrome triphalangeal thumb and brachy-ectrodactyly syndrome triphalangeal thumb and brachyectrodactyly syndrome triphalangeal thumbs brachyectrodactyly triphalangeal thumbs with brachyectrodactyly triphalangeal thumbs-brachyectrodactyly syndrome MONDO:0008608 Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of the chromosome 21 genetic material and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects. https://github.com/monarch-initiative/mondo/issues/4521 Down syndrome Down syndrome, Isolated cases Down's syndrome Down's syndrome - trisomy 21 Downs syndrome G trisomy leukemia, megakaryoblastic, with or without Down syndrome, somatic trisomy 21 (Down syndrome) complete trisomy 21 syndrome trisomy 21 trisomy 21 syndrome Down syndrome chromosome region Down syndrome critical region leukemia, megakaryoblastic, of Down syndrome transient myeloproliferative disorder of Down syndrome May be replaced by Down syndrome (http://www.orpha.net/ORDO/Orphanet_870) in the future Down syndrome MONDO:0008609 Tristichiasis eyelashes, three rows of Tristichiasis MONDO:0008610 Tritanopia is an extremely rare form of colour blindness characterised by a selective deficiency of blue vision. blue colour blindness congenital tritanopia tritan colour blindness tritan defect tritanopia blue colorblindness colorblindness, tritan colorblindness, tritanopic blue color blindness MONDO:0008611 Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus. aplasia of trochlea of the humerus trochlea of the HUMERUS, aplasia OF trochlea of the humerus aplasia of humerus trochlea aplasia https://rarediseases.info.nih.gov/diseases/2750/trochlea-of-the-humerus-aplasia-of MONDO:0008612 Tuberous sclerosis mapped to chromosome 9q34 (TSC1 gene). https://github.com/monarch-initiative/mondo/issues/4521 TSC1 tuberous sclerosis tuberous sclerosis 1 tuberous sclerosis caused by mutation in TSC1 tuberous sclerosis type 1 tuberous sclerosis-1 TSC1 tuberose sclerosis tuberous sclerosis Complex tuberous sclerosis, type 1 tuberous sclerosis 1 MONDO:0008613 Tuftsin deficiency Tuftsin deficiency MONDO:0008614 https://github.com/monarch-initiative/mondo/issues/4521 ST3 suppressor of tumorigenicity 3 cervical carcinoma cervical carcinoma, tumor-suppressor Gene involved 1N tumor-suppressor Gene, Hela cell type suppressor of tumorigenicity 3 MONDO:0008615 tune deafness Dysmelodia amusia, congenital tone deafness tune deafness MONDO:0008617 An inflammatory bowel disease that has material basis in variation in the chromosome region 7q22. IBD11 inflammatory bowel disease 11 inflammatory bowel disease type 11 inflammatory bowel disease 11 MONDO:0008618 Mesomelic dwarfism, Reinhardt-Pfeiffer type is characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. Reinhardt-Pfeiffer mesomelic dysplasia Reinhardt-Pfeiffer syndrome hypoplasia of ulna and fibula mesomelic dwarfism of hypoplastic ulna and fibula type mesomelic dysplasia Reinhardt-Pfeiffer type ulna and fibula, hypoplasia OF mesomelic dwarfism, Reinhardt-Pfeiffer type MONDO:0008619 Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga. Rosenberg-Lohr syndrome ulna metaphyseal dysplasia syndrome Rosenberg Lohr syndrome hereditary bone dysplasia with characteristic bowing and thickening of the distal ulna metaphyseal chondrodysplasia, Rosenberg type metaphyseal chondroplasia Rosenberg type ulna metaphyseal dysplasia syndrome https://rarediseases.info.nih.gov/diseases/4740/ulna-metaphyseal-dysplasia-syndrome MONDO:0008620 This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity. Fryns-Hofkens-Fabry syndrome upper limb mesomelic dysplasia Fryns Hofkens Fabry syndrome ulna hypoplasia ulnar hypoplasia upper limb mesomelic dysplasia MONDO:0008621 Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia. pili trianguli et canaliculi uncombable hair syndrome cheveux incoiffables spun glass hair unmanageable hair syndrome uncombable hair syndrome https://rarediseases.info.nih.gov/diseases/5404/uncombable-hair-syndrome MONDO:0008622 Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients. Bork syndrome uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome Bork Stender Schmidt syndrome uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly tricho-retino-dento-digital syndrome MONDO:0008623 Undritz anomaly hypersegmentation of nuclei of polymorphonuclear leukocytes Undritz anomaly MONDO:0008624 Upington disease is characterised by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant. Upington disease hip dysplasia-enchondromata-ecchondroma syndrome Perthes-like hip disease, enchondromata, and Ecchondromata familial dyschondroplasia Upington disease https://rarediseases.info.nih.gov/diseases/5421/upington-disease MONDO:0008626 ureter, bifid or double ureter, bifid or double MONDO:0008627 A malignant neoplasm involving the ureter cancer of ureter malignant neoplasm of the ureter malignant neoplasm of ureter malignant tumor of the ureter malignant tumor of ureter malignant tumour of ureter malignant ureter neoplasm malignant ureter tumor malignant ureteral neoplasm malignant ureteral tumor ureter cancer ureter, cancer OF ureter cancer MONDO:0008628 A cystic and dysplastic dilation of the distal ureter within the bladder that may extend into the bladder neck and urethra. ureterocele (disease) ureterocele ureterocele (disease) ureterocele MONDO:0008629 urolithiasis, uric acid, autosomal dominant nephrolithiasis, uric acid, autosomal dominant urolithiasis, uric acid, autosomal dominant MONDO:0008630 https://github.com/monarch-initiative/mondo/issues/4521 atony of urinary bladder bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT urinary bladder, atony of urinary bladder, atony of MONDO:0008632 Aquagenic urticaria is a rare condition in which urticaria (hives) develop rapidly after the skin comes in contact with water, regardless of its temperature. It most commonly affects women and symptoms often start around the onset of puberty. Some patients report itching too. It is a form of physical urticaria . The exact underlying cause of aquagenic urticaria is currently unknown. Due to the rarity of the condition, there is very limited data regarding the effectiveness of individual treatments; however, various medications and therapies have been used with variable success. urticaria, aquagenic aquagenic urticaria urticaria, aquagenic https://rarediseases.info.nih.gov/diseases/10901/aquagenic-urticaria MONDO:0008633 Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type). Muckle-Wells syndrome neutrophilic urticaria Cryopyrin-associated periodic syndrome 2 MUCKLE-Wells syndrome MWS Muckle Wells syndrome Uda syndrome urticaria, deafness and amyloidosis urticaria-deafness-amyloidosis syndrome Muckle-Wells syndrome MONDO:0008634 urticaria, familial localized heat urticaria, familial localized heat MONDO:0008635 uterine anomalies uterine anomalies MONDO:0008636 Double uterus, hemivagina and renal agenesis is a rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present. Double uterus and obstructed hemivagina syndrome Herlyn-Werner syndrome OHVIRA syndrome Wunderlich syndrome obstructed hemivagina and ipsilateral renal anomaly uterus BICORNIS BICOLLIS with partial vaginal septum and unilateral HEMATOCOLPOS with ipsilateral renal agenesis double uterus-hemivagina-renal agenesis syndrome MONDO:0008637 Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate. bifidity of the uvula uvular cleft uvula, bifid uvula, cleft bifid uvula MONDO:0008638 A vascular disease characterized by the presence of enlarged and tortuous veins. Venous ectasia Venous varices varix varices varicose veins varicose disease MONDO:0008639 vascular helix of umbilical cord vascular helix of umbilical cord MONDO:0008640 Lymphocytic vasculitis is one of several skin conditions which are collectively referred to as cutaneous vasculitis. In lymphocytic vasculitis, white blood cells (lymphocytes) cause damage to blood vessels in the skin. This condition is thought to be caused by a number of factors, but the exact cause of most cases is not known. This disease can present with a variety of symptoms, depending on the size, location, and severity of the affected area. In a minority of patients, cutaneous vasculitis can be part of a more severe vasculitis affecting other organs in the body - this is known as systemic vasculitis. vasculitis, lymphocytic, nodular lymphocytic vasculitis vasculitis lymphocytic, nodular vasculitis, lymphocytic, nodular https://rarediseases.info.nih.gov/diseases/6941/lymphocytic-vasculitis MONDO:0008641 An inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS); all exhibiting progressive visual impairment as well as variable cerebral dysfunction. https://github.com/monarch-initiative/mondo/issues/4521 RVCL RVCL-S hereditary vascular retinopathy retinal vasculopathy and cerebral leukoencephalopathy vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations ADRVCL CRV HVR autosomal dominant retinal vasculopathy with cerebral leukodystrophy cerebroretinal vasculopathy cerebroretinal vasculopathy, hereditary grand Kaine fulling syndrome grand-Kaine-fulling syndrome retinal vasculopathy with cerebral leukodystrophy retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena vasculopathy, retinal, with cerebral leukodystrophy Editor note: Orphanet:3421 is obsolete in the 2017 edition of ORDO, but the Orphanet website shows as active, see https://github.com/Orphanet/ORDO/issues/1 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations https://rarediseases.info.nih.gov/diseases/10535/hereditary-vascular-retinopathy https://rarediseases.info.nih.gov/diseases/1217/retinal-vasculopathy-with-cerebral-leukodystrophy https://rarediseases.info.nih.gov/diseases/2558/grand-kaine-fulling-syndrome MONDO:0008642 VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. VACTERL association VATER association vertebral abnormalities, anal atresia, Cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome VATER syndrome VATER/VACTERL association VACTERL/vater association MONDO:0008643 veins, pattern of, on anterior thorax veins, pattern of, on anterior thorax MONDO:0008644 A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features. 22q11 deletion syndrome Shprintzen VCF syndrome VCF syndrome VCF-velocardiofacial syndrome deletion 22q11.2 syndrome velocardiofacial syndrome Shprintzen syndrome chromosome 22Q11.2 deletion syndrome velocardiofacial syndrome MONDO:0008645 This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence. Stoll-Kieny-Dott syndrome ventricular extrasystoles perodactyly Robin sequence ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence ventricular extrasystoles with syncope, perodactyly, and ROBIN sequence ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome MONDO:0008647 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene. https://github.com/monarch-initiative/mondo/issues/4521 CMH1 MYH7 hypertrophic cardiomyopathy cardiomyopathy, familial hypertrophic 1 cardiomyopathy, familial hypertrophic, Autosomal dominant, Digenic dominant cardiomyopathy, familial hypertrophic, type 1 cardiomyopathy, hypertrophic, 1, Autosomal dominant, Digenic dominant cardiomyopathy, hypertrophic, 1, digenic, Autosomal dominant, Digenic dominant hypertrophic cardiomyopathy 1 hypertrophic cardiomyopathy caused by mutation in MYH7 hypertrophic cardiomyopathy type 1 Cmh asymmetric septal Hypertrophy cardiomyopathy, familial hypertrophic, 1 hypertrophic subaortic stenosis, idiopathic ventricular Hypertrophy, hereditary hypertrophic cardiomyopathy 1 MONDO:0008648 An instance of ventricular tachycardia that is caused by an inherited modification of the individual's genome. https://github.com/monarch-initiative/mondo/issues/4521 hereditary ventricular tachycardia ventricular tachycardia, familial ventricular tachycardia, idiopathic familial ventricular tachycardia ventricular tachycardia, familial polymorphic ventricular tachycardia, familial MONDO:0008649 venular insufficiency, systemic venular insufficiency, systemic MONDO:0008650 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome is characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters. Faulk-Epstein-Jones syndrome Faulk Epstein Jones syndrome congenital ptosis and posterior fusion of lumbosacral vertebrae familial posterior lumbosacral vertebral fusion and eyelid ptosis vertebral fusion posterior lumbosacral blepharoptosis vertebral fusion, POSTERIOR lumbosacral, with blepharoptosis posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome https://rarediseases.info.nih.gov/diseases/2276/faulk-epstein-jones-syndrome MONDO:0008651 vertebral hypoplasia with lumbar kyphosis vertebral hypoplasia with lumbar kyphosis MONDO:0008652 Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus. https://github.com/monarch-initiative/mondo/issues/4521 Charcot-Marie-Tooth disease, foot deformity of congenital convex foot congenital convex pes valgus congenital rocker-bottom foot CVT pes valgus, congenital convex rocker bottom foot rocker-bottom foot rocker-bottom foot deformity vertical talus vertical talus, congenital congenital vertical talus https://rarediseases.info.nih.gov/diseases/5488/congenital-vertical-talus MONDO:0008653 https://github.com/monarch-initiative/mondo/issues/4521 VUR1 Vesicoureteral reflux vesicoureteral reflux 1 VUR vesicoureteral reflux 1 MONDO:0008654 NYS4 NYSTAGMUS 4, congenital, autosomal dominant vestibulocerebellar disorder with predominant ocular signs nystagmus 4, congenital, autosomal dominant MONDO:0008655 vestibulocochlear dysfunction, progressive familial progressive vestibulocochlear dysfunction vestibulocochlear dysfunction, progressive https://rarediseases.info.nih.gov/diseases/5489/vestibulocochlear-dysfunction-progressive MONDO:0008658 virus Rd114 RNA Complementarity virus Rd114 RNA Complementarity MONDO:0008659 Haptocorrin deficiency TCI deficiency transcobalamin I deficiency transcobalamin-1 deficiency R Binder deficiency with lactoferrin deficiency Tcn1 deficiency cobalamin Pseudodeficiency due to transcobalamin deficiency cobalamin R Binder Protein deficiency transcobalamin 1 deficiency transcobalamin 1 deficiency with lactoferrin deficiency transcobalamin I deficiency https://rarediseases.info.nih.gov/diseases/5239/transcobalamin-1-deficiency MONDO:0008660 Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia. https://github.com/monarch-initiative/mondo/issues/4948 ADHR autosomal dominant hereditary hypophosphatemic rickets autosomal dominant hypophosphatemia autosomal dominant hypophosphatemic rickets hereditary hypophosphatemic rickets, autosomal dominant hypophosphatemic rickets, autosomal dominant hypophosphatemia, autosomal dominant vitamin D-resistant rickets, autosomal dominant autosomal dominant hypophosphatemic rickets MONDO:0008661 Generalized well circumscribed patches of leukoderma that are generally distributed over symmetric body locations and is due to autoimmune destruction of melanocytes. vitiligo MONDO:0008662 Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees. https://github.com/monarch-initiative/mondo/issues/4521 ADVIRC VRCP VRCP autosomal dominant microcornea, Rod-cone dystrophy, cataract, and posterior staphyloma vitreoretinochoroidopathy vitreoretinochoroidopathy dominant vitreoretinochoroidopathy with microcornea, glaucoma, and cataract vitreoretinochoroidopathy, autosomal dominant vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos autosomal dominant vitreoretinochoroidopathy MONDO:0008663 Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36. snowflake vitreoretinal degeneration SVD snowflake degeneration in hereditary vitreoretinal degeneration vitreoretinal degeneration, snowflake type snowflake vitreoretinal degeneration https://rarediseases.info.nih.gov/diseases/9706/snowflake-vitreoretinal-degeneration MONDO:0008665 Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983. tucker syndrome congenital bilateral recurrent nerve paralysis and ptosis ptosis vocal cord paralysis vocal cord paralysis and ptosis ptosis-vocal cord paralysis syndrome MONDO:0008666 A congenital abnormality in which the intestine is abnormally rotated (twisted). It may result in intestinal obstruction. congenital malrotation of intestine intestinal malrotation volvulus of midgut intestinal malrotation, familial volvulus of midgut MONDO:0008667 A familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma. https://github.com/monarch-initiative/mondo/issues/4521 Hippel Lindau syndrome Lindau disease VHL Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome (VHL) cerebroretinal angiomatosis familial cerebelloretinal angiomatosis von Hippel-Lindau disease von Hippel-Lindau syndrome von Hippel-Lindau syndrome, modifier of VHL syndrome Von Hippel Lindau disease Von Hippel-Lindau syndrome, Modifiers of von Hippel-Lindau disease https://rarediseases.info.nih.gov/diseases/7855/von-hippel-lindau-disease MONDO:0008668 Type 1 von Willebrand disease (type 1 VWD) is a form of VWD characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF). VWD type 1 VWD1 von Willebrand disease 1 von Willebrand disease type 1 von Willebrand disease type I von Willebrand's disease type 1 von willebrand's disease 1 VON WILLEBRAND disease, type 1 VWD, type 1 Von Willebrand disease, type 1 von Willebrand disease 1 MONDO:0008669 vulvovaginitis, allergic seminal vulvovaginitis, allergic seminal MONDO:0008670 Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS), disorder characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum. WS1 Waardenburg syndrome type 1 Waardenburg syndrome type I Waardenburg syndrome with dystopia canthorum Waardenburg syndrome, type 1 Waardenburg's syndrome type 1 Waardenburg syndrome type 1 https://rarediseases.info.nih.gov/diseases/5519/waardenburg-syndrome-type-1 MONDO:0008671 Waardenburg syndrome Type 2 caused by mutations in the MITF gene. MITF Waardenburg syndrome type 2 WS2A Waardenburg syndrome type 2 caused by mutation in MITF Waardenburg syndrome type 2A Waardenburg syndrome type IIA Waardenburg syndrome without dystopia canthorum Waardenburg syndrome, type 2A Ws2 Waardenburg syndrome type 2A https://rarediseases.info.nih.gov/diseases/5521/waardenburg-syndrome-type-2a MONDO:0008672 Watson syndrome is believed to be a variant of neurofibromatosis type 1. The symptoms of this condition are pulmonary valvular stenosis, cafe-au-lait spots and short stature. IQTest scores for individuals with Watson syndromecan rangebetween 60-100.Many people with this condition also have a larger than average head size (macrocephaly) and Lisch nodules. While mutations in the NF1 gene have been found in families with Watson syndrome, the exactcause of this condition is unknown. The conditionis inherited in an autosomal dominant pattern. Treatment aims at managing the specific symptoms of an individual. Watson syndrome WTSN cafe-Au-lait Spots with pulmonic stenosis pulmonic stenosis with cafe-Au-lait Spots Watson syndrome https://rarediseases.info.nih.gov/diseases/5540/watson-syndrome MONDO:0008673 Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome, an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner. https://github.com/monarch-initiative/mondo/issues/4948 Weyers acrodental dysostosis Weyers acrofacial dysostosis curry-Hall syndrome acrodental dysostosis of Weyers acrofacial dysostosis of Weyers curry Hall syndrome wad acrofacial dysostosis, Weyers type MONDO:0008675 Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis. https://github.com/monarch-initiative/mondo/issues/4521 Craniocarpotarsal dysplasia Craniocarpotarsal dystrophy Freeman Sheldon syndrome Freeman-Sheldon syndrome arthrogryposis, distal, type 2A (Freeman-Sheldon) cranio-carpo-tarsal syndrome craniocarpotarsal dysplasia craniocarpotarsal dystrophy distal arthrogryposis type 2A whistling face syndrome whistling face-windmill vane hand syndrome whistling-face syndrome windmill-vane-hand syndrome DA2A FSS arthrogryposis distal type 2A arthrogryposis, distal, type 2A Freeman-Sheldon syndrome MONDO:0008676 Any hereditary mucosal leukokeratosis in which the cause of the disease is a mutation in the KRT4 gene. KRT4 hereditary mucosal leukokeratosis White sponge Nevus type 1 hereditary mucosal leukokeratosis caused by mutation in KRT4 white sponge nevus 1 WHITE sponge NEVUS 1 WSN1 White sponge Nevus of Cannon leukokeratosis, hereditary mucosal white sponge nevus 1 MONDO:0008678 Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity) https://github.com/monarch-initiative/mondo/issues/3680 https://github.com/monarch-initiative/mondo/issues/5588 Fanconi Schlesinger syndrome Williams syndrome Williams-Beuren syndrome Williams-Beuren syndrome (WBS) deletion 7q11.23 monosomy 7q11.23 WBS WMS chromosome 7Q11.23 deletion syndrome, 1.5- to 1.8-Mb Williams syndrome MONDO:0008679 https://github.com/monarch-initiative/mondo/issues/4521 Wilms' tumor renal Wilms tumor Wilms tumor 1 Wilms tumor type 1 Wilms tumor, autosomal dominant, somatic mutation Wilms tumor, somatic Wilms tumor, type 1, autosomal dominant, somatic mutation WT1 nephroblastoma Wilms tumor 1 MONDO:0008680 https://github.com/monarch-initiative/mondo/issues/4521 Wilms tumor 2 Wilms tumor 2, autosomal dominant, somatic mutation Wilms tumor type 2 FWT2 WT2 familial Wilms tumor 2 Wilms tumor 2 https://rarediseases.info.nih.gov/diseases/8559/familial-wilms-tumor-2 MONDO:0008681 WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor. https://github.com/monarch-initiative/mondo/issues/4521 11p partial monosomy syndrome Del(11)(p13) WAGR 11p13 deletion syndrome WAGR syndrome Wilms tumor, aniridia, genitourinary anomalies and developmental delay syndrome Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome, autosomal dominant, somatic mutation Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome Wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome chromosome 11p13 deletion syndrome deletion 11p13 monosomy 11p13 11p deletion 11p deletion syndrome 11p monosomy AGR triad WAGR WAGR Complex Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability syndrome Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome Wilms tumor, aniridia, genitourinary anomalies, intellectual disability syndrome Wilms tumor, aniridia, genitourinary anomalies, mental retardation syndrome Wilms tumor-aniridia-gonadoblastoma-intellectual disability syndrome Wilms tumor-aniridia-gonadoblastoma-mental retardation syndrome chromosome 11P13 deletion syndrome chromosome 11p deletion chromosome 11p deletion syndrome deletion 11p monosomy 11p partial monosomy 11p WAGR syndrome https://rarediseases.info.nih.gov/diseases/5528/wagr-syndrome MONDO:0008682 Denys-Drash syndrome (DDS) is a rare urogenital disorder characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma. https://github.com/monarch-initiative/mondo/issues/4521 Denys Drash syndrome Denys-Drash syndrome Denys-Drash syndrome, autosomal dominant, somatic mutation Drash syndrome Wilms tumor and pseudohermaphroditism nephrotic syndrome type 4 DDS Wilms tumor and pseudo- or true hermaphroditism nephropathy associated with male pseudohermaphroditism and Wilms' tumor nephropathy, Wilms tumor, and genital anomalies pseudohermaphroditism, nephron disorder and Wilms' tumor Denys-Drash syndrome MONDO:0008683 https://github.com/monarch-initiative/mondo/issues/4521 Wilms tumor 3 Wilms tumor, type 3 WT3 Wilms tumor 3 MONDO:0008684 Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 4p deletion syndrome 4p- syndrome Pitt syndrome Pitt-Rogers-Danks syndrome Wittwer syndrome Wolf-Hirschhorn syndrome Wolf-Hirschhorn syndrome, Isolated cases chromosome 4p16.3 deletion syndrome distal deletion 4p distal monosomy 4p telomeric deletion 4p 4p syndrome WHS Wolf syndrome chromosome 4P16.3 deletion syndrome chromosome 4p syndrome microcephaly, IUGR, hypertelorism, ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation Wolf-Hirschhorn syndrome https://rarediseases.info.nih.gov/diseases/7896/wolf-hirschhorn-syndrome MONDO:0008685 A cardiac conduction disorder characterized by an electrocardiographic finding of ventricular pre-excitation, which is a short PR interval and a long QRS interval with a delta wave. Most individuals are asymptomatic; however they can experience periods of palpitations, shortness of breath or syncope during tachycardic episodes. Wolff-Parkinson-white syndrome (disease) WPW Wolff-Parkinson-White pattern Wolff-Parkinson-White pattern (finding) Wolff-Parkinson-White syndrome Wolff-Parkinson-white syndrome (disease) anomalous A-V excitation anomalous atrioventricular excitation ventricular familial preexcitation syndrome Wpw syndrome accessory atrioventricular pathways preexcitation syndrome Wolff-Parkinson-white syndrome MONDO:0008686 Woolly hair is a rare congenital abnormality of the structure of the scalp hair marked by extreme kinkiness of the hair. familial woolly hair syndrome familial wooly hair syndrome hereditary woolly hair syndrome hereditary wooly hair syndrome woolly hair wooly hair ADWH familial woolly hair (autosomal recessive) hereditary woolly hair (autosomal dominant) woolly hair syndrome woolly hair, autosomal dominant isolated familial woolly hair disorder MONDO:0008687 Woronets trait Woronets trait MONDO:0008688 WT limb-blood syndrome is characterised by haematological anomalies (Fanconi anaemia, leukaemia and lymphoma) often appearing during childhood. Anomalies of the limbs and hands are also present: bifid or hypoplastic thumbs, cutaneous syndactyly, and ulnar and radial defects. The syndrome has been described in several families. Transmission is autosomal dominant. WT limb-blood syndrome WT limb blood syndrome WTsyndrome radial-ulnar hypoplasia with bone marrow failure and/or leukemia WT limb-blood syndrome https://rarediseases.info.nih.gov/diseases/39/wt-limb-blood-syndrome MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema DEHYDRATED hereditary stomatocytosis 1 with or without pseudohyperkalemia and/OR perinatal edema DEHYDRATED hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema DHS DHS1 Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/Or perinatal edema Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema Desiccytosis, hereditary dehydrated hereditary stomatocytosis pseudohyperkalemia Edinburgh pseudohyperkalemia, familial, 1, due to Red cell leak xerocytosis, hereditary dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema https://rarediseases.info.nih.gov/diseases/10676/dehydrated-hereditary-stomatocytosis-pseudohyperkalemia-and-perinatal-edema MONDO:0008690 xeroderma pigmentosum, autosomal dominant, mild xeroderma pigmentosum, autosomal dominant, mild MONDO:0008691 zinc, elevated plasma albumin binding of zinc, elevated hyperzincemia and hypercalprotectinemia hyperzincemia, familial Dysalbuminemic zinc, elevated plasma MONDO:0008692 Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations. Bassen-Kornzweig disease abetalipoproteinemia familial hypobetalipoproteinemia homozygous familial hypobetalipoproteinemia microsomal triglyceride transfer protein deficiency disease ABL Bassen Kornzweig syndrome Bassen-Kornzweig syndrome Betalipoprotein deficiency disease MTP deficiency abetalipoproteinemia neuropathy acanthocytosis apolipoprotein B deficiency congenital betalipoprotein deficiency syndrome microsomal triglyceride transfer Protein deficiency abetalipoproteinemia MONDO:0008693 Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome. AMS ablepharon-macrostomia syndrome congenital ablepharon, absent eyelashes/eyebrows, macrostomia, auricular, nasal, genital and other systemic anomalies ablepharon macrostomia syndrome MONDO:0008694 Pseudoprogeria is characterised by intellectual deficit associated with progressive spastic quadriplegia, microcephaly, glaucoma, absence of the eyebrows and eyelashes, and a malformation of the nose. It has been described in two brothers. https://github.com/monarch-initiative/mondo/issues/5588 Hal-Berg-Rudolph syndrome absent eyebrows and eyelashes-intellectual disability syndrome eyebrows and eyelashes absence-intellectual disability syndrome pseudoprogeria syndrome absent eyebrows and eyelashes with intellectual disability absent eyebrows and eyelashes with mental retardation intellectual disability, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose mental retardation, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose pseudoprogeria syndrome https://rarediseases.info.nih.gov/diseases/415/pseudoprogeria-syndrome MONDO:0008695 Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances. Chac Levine-Critchley syndrome chorea-acanthocytosis choreo-acanthocytosis choreoacanthocytosis CHOREOACANTHOCYTOSIS acanthocytosis with neurologic disorder chorea acanthocytosis choreaacanthocytosis neuroacanthocytosis chorea-acanthocytosis MONDO:0008696 This syndrome is characterised by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy. https://github.com/monarch-initiative/mondo/issues/5723 acanthosis nigricans muscle cramps acral enlargement acanthosis nigricans with muscle cramps and acral enlargement familial insulin resistance with acanthosis nigricans, acral hypertrophy and muscle cramps acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome MONDO:0008698 A finding indicating the lack of adequate relaxation of the lower esophageal sphincter resulting in difficulty swallowing food. https://github.com/monarch-initiative/mondo/issues/4055 achalasia (disease) achalasia achalasia (disease) achalasia of cardia achalasia of esophagus cardiospasm esophageal achalasia hypertensive lower esophageal sphincter lack of reflex relaxation of lower oesophageal sphincter achalasia MONDO:0008699 Achalasia-microcephaly is an extremely rare genetic syndrome, reported in a few families to date, characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case. An autosomal recessive inheritance has been proposed. achalasia microcephaly achalasia-microcephaly syndrome achalasia microcephaly syndrome https://rarediseases.info.nih.gov/diseases/456/achalasia-microcephaly-syndrome MONDO:0008700 Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance. https://github.com/monarch-initiative/mondo/issues/4948 acheiropodia acheiropody horn-Kolb syndrome ACHP acheiropody, Brazilian type acheiropody MONDO:0008701 Achondrogenesis type 1A (ACG1A), a form of achondrogenesis, is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage. https://github.com/monarch-initiative/mondo/issues/4948 achondrogenesis Houston-Harris type achondrogenesis, Houston-Harris type ACG1A Houston-Harris achondrogenesis achondrogenesis type 1A achondrogenesis, type 1A achondrogenesis, type IA achondrogenesis type IA MONDO:0008702 Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 achondrogenesis type II achondrogenesis, Langer-Saldino type achondrogenesis, type II or hypochondrogenesis ACG2 achondrogenesis type 2 achondrogenesis, type 2 achondrogenesis, type IB achondrogenesis, type IB, formerly achondrogenesis, type II chondrogenesis imperfecta hypochondrogenesis achondrogenesis type II MONDO:0008703 An autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 GREBE chondrodysplasia Grebe chondrodysplasia Grebe dysplasia Langer-Saldino achondrogenesis acromesomelic dysplasia 2A acromesomelic dysplasia, Grebe type chondrodysplasia, Grebe type type II achondrogenesis AMDG Brazilian achondrogenesis Grebe syndrome achondrogenesis type II (formerly) achondrogenesis, Brazilian achondrogenesis, type II achondrogenesis, type II, formerly hypochondrogenesis acromesomelic dysplasia 2A MONDO:0008704 Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity. achondroplasia-SCID syndrome achondroplasia-Swiss type agammaglobulinemia syndrome achondroplasia-severe combined immunodeficiency syndrome immunodeficiency-short limb dwarfism syndrome short limb skeletal dysplasia with SCID short-limb skeletal dysplasia with severe combined immunodeficiency SLSD with SCID Slsd with SCID achondroplasia and Swiss type agammaglobulinemia achondroplasia and Swiss-type agammaglobulinemia achondroplasia and severe combined immunodeficiency achondroplasia so-called and severe combined immunodeficiency achondroplasia, so-called, and severe combined immunodeficiency agammaglobulinemia and achondroplasia short-limb skeletal dysplasia with severe combined immunodeficiency https://rarediseases.info.nih.gov/diseases/2988/achondroplasia-and-severe-combined-immunodeficiency MONDO:0008705 acid phosphatase deficiency lysosomal acid phosphatase deficiency lysosomal acid phosphatase deficiency MONDO:0008706 Ackerman syndrome is characterized by pyramidal molar roots and taurodontism, associated with variable anomalies. It has been described in two generations of one family. Both parents and their six sibs had pyramidal, taurodont or fused molar roots. Some of the patients also had hypotrichosis, an abnormal upper lip, thickened and wide philtrum, and/or juvenile glaucoma. Other features included entropion of the eyelid, syndactyly and clinodactyly of the fifth fingers. Ackerman fused molar rooth syndrome Ackerman syndrome pyramidal molar-glaucoma-upper abnormal lip syndrome glaucoma, juvenile, with unusual upper lip and dental roots juvenile glaucoma with unusual upper lip and dental roots molar roots, pyramidal, with juvenile glaucoma and unusual upper lip pyramidal molars, glaucoma, abnormal upper lip Ackerman syndrome https://rarediseases.info.nih.gov/diseases/469/ackerman-syndrome MONDO:0008707 Acro-renal-mandibular syndrome is a very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested. split hand/split foot-mandibular hypoplasia syndrome acro-renal-uterine-mandibular syndrome acrorenal mandibular syndrome acrorenal-mandibular syndrome acrorenal-uterine-mandibular syndrome split hand split foot mandibular hypoplasia split-hand and split-foot with mandibular hypoplasia acro-renal-mandibular syndrome MONDO:0008708 Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit. https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5588 ACLS ACS Schinzel acrocallosal syndrome Schinzel syndrome 1 acrocallosal syndrome Joubert syndrome 12 Joubert syndrome 12/15, digenic absence of corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces and polydactyly acrocallosal syndrome, Schinzel type hallux Duplication, postaxial polydactyly, and absence of corpus callosum acrocallosal syndrome MONDO:0008709 Acrocephalopolydactyly, also known as Elejalde syndrome, is an extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date. Elejalde syndrome acrocephalopolydactylous dysplasia acrocephalopolydactyly MONDO:0008710 Any Carpenter syndrome in which the cause of the disease is a mutation in the RAB23 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 ACPS 2 Carpenter syndrome acrocephalopolysyndactyly type 2 Carpenter syndrome 1 Carpenter syndrome caused by mutation in RAB23 Carpenter syndrome type 1 RAB23 Carpenter syndrome RAB23-related Carpenter syndrome CARPENTER syndrome 1 CRPT1 RAB23-related Carpenter syndrome MONDO:0008711 Goodman syndrome is an extremely rare genetic disorder characterized by marked malformations of the head and face (essentially acrocephaly), abnormalities of the hands and feet (polydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), and congenital heart disease. There have been no further descriptions in the literature since 1979. Goodman syndrome could be a variant of Carpenter syndrome. ACPS 4 ACPS4 Goodman syndrome acrocephalopolysyndactyly type 4 Goodman camptodactyly acrocephalopolysyndactyly type IV Goodman syndrome https://rarediseases.info.nih.gov/diseases/2549/goodman-syndrome MONDO:0008712 Acrocraniofacial dysostosis is a very rare form of acrofacial dyosotosis, reported in two sisters to date, characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988. Kaplan-Plauchu-Fitch syndrome acrocraniofacial dysostosis Kaplan Plauchu Fitch syndrome acrocraniofacial dysostosis MONDO:0008713 Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure. https://github.com/monarch-initiative/mondo/issues/5682 AEZ acrodermatitis enteropathica acrodermatitis enteropathica, zinc deficiency type inherited zinc deficiency Brandt syndrome Danbolt-Cross syndrome acrodermatitis enteropathica zinc deficiency type acrodermatitis enteropathica, zinc-deficiency type ae enteropathica acrodermatitis enteropathica https://rarediseases.info.nih.gov/diseases/5723/acrodermatitis-enteropathica https://rarediseases.info.nih.gov/diseases/6343/enteropathica MONDO:0008714 Acrofacial dysostosis Rodriguez type is a multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs). Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth. https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5588 acrofacial dysostosis, syndrome of Rodriguez Rodriguez lethal acrofacial dysostosis syndrome acrofacial dysostosis syndrome of Rodriguez acrofacial dysostosis, Rodríguez type acrofacial dysostosis Rodriguez type https://rarediseases.info.nih.gov/diseases/496/acrofacial-dysostosis-rodriguez-type MONDO:0008715 A congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. AFFN dysostosis Richieri-Costa-Colletto syndrome Affn dysostosis 1 acrofrontofacionasal dysostosis 1 acrofrontofacionasal dysostosis type 1 acro fronto facio nasal dysostosis acrofrontofacionasal dysostosis syndrome cleft Lip/palate with frontonasal dysostosis and postaxial polysyndactyly polysyndactyly, postaxial, frontonasal dysostosis and cleft lip/palate polysyndactyly, postaxial, frontonasal dysostosis, and cleft Lip/palate acrofrontofacionasal dysostosis MONDO:0008716 A congenital skin condition characterized by premature aging, more especially in the form of unusually fragile, thin skin on the hands and feet. Its onset is in early childhood; it progresses over the next few years and then remains stable. A bruising tendency has been observed. Gottron syndrome acrogeria, Gottron type acrometageria Metageria familial acrogeria acrogeria MONDO:0008717 Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal. https://github.com/monarch-initiative/mondo/issues/4521 acromesomelic dwarfism acromesomelic dysplasia 2C, Hunter-Thompson type acromesomelic dysplasia, Hunter-Thompson type AMDH acromesomelic dysplasia Hunter Thompson type acromesomelic dysplasia 2C, Hunter-Thompson type MONDO:0008718 Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases. Morvan's fibrillary chorea limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome Morvan syndrome MONDO:0008719 Autosomal recessive form of acrorenal syndrome. acrorenal syndrome, autosomal recessive autosomal recessive acrorenal syndrome Curran syndrome acrorenal syndrome autosomal recessive acrorenal syndrome recessive acrorenal syndrome, autosomal recessive MONDO:0008720 A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland. congenital isolated adrenocorticotropic hormone deficiency (disease) adrenocorticotropic hormone deficiency congenital isolated adrenocorticotropic hormone deficiency (disease) ACTH deficiency, isolated IAD congenital isolated ACTH deficiency isolated ACTH deficiency isolated adrenocorticotropic hormone deficiency congenital isolated adrenocorticotropic hormone deficiency MONDO:0008721 Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention. https://github.com/monarch-initiative/mondo/issues/4521 ACADM deficiency Acyl-CoA dehydrogenase, medium chain, deficiency of Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency MCAD MCAD deficiency MCADD acyl-CoA dehydrogenase, medium-chain deficiency medium chain acyl-CoA dehydrogenase deficiency medium chain acyl-coenzyme A dehydrogenase deficiency medium-chain acyl-CoA dehydrogenase deficiency medium-chain acyl-Coenzyme A dehydrogenase deficiency ACADMD Carnitine deficiency secondary to medium-chain acyl-Coa dehydrogenase deficiency Mcadh deficiency acyl-CoA dehydrogenase medium chain deficiency of acyl-CoA dehydrogenase, medium-chain, deficiency OF medium chain acyl CoA dehydrogenase deficiency medium chain acyl-CoA dehydrogenase deficiency MONDO:0008722 Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy. ACADS deficiency SCAD SCAD deficiency SCADD acyl-CoA dehydrogenase, short-chain deficiency short chain acyl-CoA dehydrogenase deficiency short-chain acyl-CoA dehydrogenase deficiency (SCAD) short-chain acyl-Coenzyme A dehydrogenase deficiency (SCAD) ACADSD Acads deficiency Scad deficiency Scadh deficiency acyl-CoA dehydrogenase, short-chain, deficiency OF lipid-storage myopathy secondary to short-chain acyl-Coa dehydrogenase deficiency short-chain acyl-CoA dehydrogenase deficiency short-chain acyl-coenzyme A dehydrogenase deficiency short chain acyl-CoA dehydrogenase deficiency https://rarediseases.info.nih.gov/diseases/4822/short-chain-acyl-coa-dehydrogenase-deficiency MONDO:0008723 An inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis. VLCAD VLCAD deficiency VLCADD acyl-CoA dehydrogenase, very long-chain deficiency very long chain acyl-CoA dehydrogenase deficiency very long-chain acyl-CoA dehydrogenase deficiency very long-chain acyl-Coenzyme A dehydrogenase deficiency ACADVLD acyl-CoA dehydrogenase, very long-chain, deficiency OF very long chain acyl-CoA dehydrogenase deficiency MONDO:0008724 A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism ("myopathic" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983. adducted thumbs syndrome adducted thumbs-arthrogryposis syndrome, Christian type MONDO:0008725 Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males. https://github.com/monarch-initiative/mondo/issues/4521 CLAH lipoid adrenal hyperplasia LCAH adrenal hyperplasia 1 congenital adrenal hyperplasia lipoid lipoid congenital adrenal hyperplasia lipoid hyperplasia, congenital, of adrenal cortex with Male pseudohermaphroditism congenital lipoid adrenal hyperplasia due to STAR deficency MONDO:0008726 https://github.com/monarch-initiative/mondo/issues/4948 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis ABS1 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis MONDO:0008727 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias. https://github.com/monarch-initiative/mondo/issues/4069 3-beta HSD deficiency CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency 3-BETA-hydroxysteroid dehydrogenase, type II, deficiency OF 3-Beta-HSD deficiency 3-Beta-hydroxysteroid dehydrogenase deficiency 3b-hydroxysteroid dehydrogenase deficiency HSD3B deficiency adrenal hyperplasia 2 adrenal hyperplasia II adrenal hyperplasia, congenital, due to 3-BETA-hydroxysteroid dehydrogenase 2 deficiency adrenal hyperplasia, congenital, due to 3-Beta-hydroxysteroid dehydrogenase 2 deficiency type II 3-beta-hydroxysteroid dehydrogenase deficiency congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency MONDO:0008728 The most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia. https://github.com/monarch-initiative/mondo/issues/4069 21-OHD classic 21-OHD CAH classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 21 hydroxylase deficiency 21-hydroxylase deficiency CYP21 deficiency adrenal hyperplasia 3 adrenal hyperplasia, congenital, due to 21-HYDROXYLASE deficiency adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency congenital adrenal hyperplasia 1 congenital adrenal hyperplasia due to 21-hydroxylase deficiency hyperandrogenism, Nonclassic type, due to 21-Hydroxylase deficiency classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency MONDO:0008729 Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 CAH due to 11-beta-hydroxylase deficiency CYP11B1 deficiency adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency 11-Beta-Hydroxylase deficiency P450C11B1 deficiency adrenal hyperplasia 4 adrenal hyperplasia IV adrenal hyperplasia hypertensive form adrenal hyperplasia, congenital, due to steroid 11-BETA-HYDROXYLASE deficiency adrenal hyperplasia, hypertensive form steroid 11-Beta-Hydroxylase deficiency congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency MONDO:0008730 A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 17-alpha-hydroxylase/17,20-lyase deficiency CAH due to 17-alpha-hydroxylase deficiency combined 17-hydroxylase/17,20-lyase deficiency 17,20-lyase deficiency, isolated 17-Alpha-Hydroxylase deficiency 17-Alpha-Hydroxylase/17,20-lyase deficiency, combined complete 17-Alpha-Hydroxylase/17,20-lyase deficiency, combined partial adrenal hyperplasia 5 adrenal hyperplasia, congenital, due to 17-ALPHA-HYDROXYLASE deficiency congenital adrenal hyperplasia type 5 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency https://rarediseases.info.nih.gov/diseases/1469/17-alpha-hydroxylase-deficiency MONDO:0008731 familial adrenal hypoplasia with absent pituitary LH familial adrenal hypoplasia, miniature type adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone familial adrenal hypoplasia with absent pituitary luteinizing hormone MONDO:0008732 adrenal hypoplasia, cytomegalic type adrenal hypoplasia, cytomegalic type MONDO:0008733 Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency. glucocorticoid deficiency GCCD familial glucocorticoid deficiency https://rarediseases.info.nih.gov/diseases/2498/familial-glucocorticoid-deficiency MONDO:0008734 An instance of adrenal cortex carcinoma that is caused by an inherited modification of the individual's genome. adrenocortical carcinoma, hereditary hereditary adrenal cortex carcinoma ADCC adrenocortical carcinoma, pediatric adrenocortical carcinoma, hereditary MONDO:0008735 adrenocortical unresponsiveness to ACTH with postreceptor defect familial glucocorticoid deficiency due to defect distal to ACTH receptor adrenocortical unresponsiveness to ACTH with postreceptor defect MONDO:0008736 https://github.com/monarch-initiative/mondo/issues/2632 peroxisome biogenesis disorder 2B peroxisome biogenesis disorder type 2B PBD2B peroxisome biogenesis disorder 2B MONDO:0008737 Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen. fibrinogen deficiency factor I deficiency afibrinogenemia afibrinogenemia congenital afibrinogenemia, congenital familial afibrinogenemia hypofibrinogenemia, congenital congenital afibrinogenemia MONDO:0008738 A complete lack of ganglia in the intestine. This is an extremely severe form of aganglionosis distinct from Hirschsprung Disease. This is an n-of-1 use case where only one patient or family has been described with this disorder. aganglionosis, total intestinal total intestinal aganglionosis aganglionosis, total intestinal MONDO:0008739 agenesis of cerebral white matter agenesis of cerebral white matter MONDO:0008740 Agnathia-holoprosencephaly-situs inversus syndrome is an extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis. https://github.com/monarch-initiative/mondo/issues/5588 agnathia-holoprosencephaly-situs inversus syndrome agnathia-otocephaly complex dysgnathia complex agnathia-holoprosencephaly holoprosencephaly-agnathia otocephaly AGOTC Dysgnathia Complex agnathia-holoprosencephaly agnathia-holoprosencephaly agnathia-otocephaly complex MONDO:0008741 PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies. PAGOD syndrome pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome Kennerknecht sorgo Oberhoffer syndrome agonadism with multiple internal malformations pulmonary hypoplasia, hypoplasia of the pulmonary artery, agonadism, omphalocele-diaphragmatic defect, and dextrocardia PAGOD syndrome MONDO:0008742 Autosomal dominant form of severe congenital neutropenia. severe congenital neutropenia, autosomal dominant severe congenital neutropenia autosomal dominant autosomal dominant severe congenital neutropenia https://rarediseases.info.nih.gov/diseases/9558/severe-congenital-neutropenia-autosomal-dominant MONDO:0008743 Stimmler syndrome is characterised by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood. https://github.com/monarch-initiative/mondo/issues/5588 Stimmler syndrome ALANINURIA with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus Stimmler syndrome MONDO:0008744 Alar cartilages hypoplasia- coloboma- telecanthus is a very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976. alar-nasal cartilages, coloboma of, with telecanthus coloboma of alar-nasal cartilages with telecanthus frontonasal dysplasia with alar clefts alar cartilages hypoplasia-coloboma-telecanthus syndrome MONDO:0008745 Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA, where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves. OCA1A TYR oculocutaneous albinism Tyr oculocutaneous albinism oculocutaneous albinism caused by mutation in TYR oculocutaneous albinism caused by mutation in Tyr oculocutaneous albinism, tyrosinase-negative tyrosinase-negative oculocutaneous albinism albinism 1 albinism, oculocutaneous, type 1A albinism, oculocutaneous, type IA oculocutaneous albinism type IA oculocutaneous albinism, type 1 oculocutaneous albinism type 1A MONDO:0008746 Oculocutaneous albinism type 2 (OCA2) is a type of OCA and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm. https://github.com/monarch-initiative/mondo/issues/4521 OCA2 albinism, oculocutaneous, type II, modifier of oculocutaneous albinism type 2 oculocutaneous albinism, tyrosinase-positive Albinoidism Brown oculocutaneous albinism albinism 2 albinism, Brown oculocutaneous albinism, oculocutaneous, type 2 albinism, oculocutaneous, type II oculocutaneous albinism type II oculocutaneous albinism tyrosinase positive oculocutaneous albinism, type 2 tyrosinase-positive oculocutaneous albinism oculocutaneous albinism type 2 https://rarediseases.info.nih.gov/diseases/4038/oculocutaneous-albinism-type-2 MONDO:0008747 Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA) characterized by rufous or brown albinism and occurring mainly in the African population. OCA3 Red oculocutaneous albinism TYRP1 oculocutaneous albinism oculocutaneous albinism caused by mutation in TYRP1 oculocutaneous albinism type 3 rufous oculocutaneous albinism xanthous oculocutaneous albinism ROCA Xanthism albinism 3 albinism, oculocutaneous, type 3 albinism, oculocutaneous, type III oculocutaneous albinism type III oculocutaneous albinism, type 3 rufous OCA oculocutaneous albinism type 3 MONDO:0008748 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS1 gene. HPS1 Hermansky-Pudlak syndrome Hermansky-Pudlak syndrome 1 Hermansky-Pudlak syndrome caused by mutation in HPS1 Hermansky-Pudlak syndrome type 1 Delta storage pool disease HPS1 albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells Hermansky-Pudlak syndrome 1 MONDO:0008749 Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO), and normal expression of the Gs protein with a normal urinary cAMP response. PHP II PHP2 Php 2 pseudohypoparathyroidism, type II pseudohypoparathyroidism type 2 https://rarediseases.info.nih.gov/diseases/10682/pseudohypoparathyroidism-type-2 MONDO:0008750 Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. Castro Gago-Pombo-Novo syndrome microcephaly-albinism-digital anomalies syndrome albinism-microcephaly digital anomalies syndrome albinism-microcephaly-digital anomalies syndrome microcephaly-albinism-digital anomalies syndrome https://rarediseases.info.nih.gov/diseases/3604/microcephaly-albinism-digital-anomalies-syndrome MONDO:0008751 https://github.com/monarch-initiative/mondo/issues/4521 corticosterone 18-monooxygenase deficiency corticosterone methyloxidase type 1 deficiency hypoaldosteronism, congenital, due to cmo i deficiency 18 Hydroxylase deficiency 18 alpha hydroxylase deficiency 18-Hydroxylase deficiency 18-hydroxycorticosterone dehydrogenase deficiency 18-hydroxylase deficiency CAH - 18-hydroxylase deficiency CMO 1 deficiency CMO I deficiency CMO II deficiency aldosterone deficiency 1 aldosterone deficiency due to 18-hydroxylase defect aldosterone deficiency due to 18-hydroxysteroid dehydrogenase deficiency aldosterone deficiency due to defect in 18 hydroxylase aldosterone deficiency due to defect in steroid 18-Hydroxylase corticosterone methyl oxidase type I deficiency corticosterone methyl oxidase type II deficiency corticosterone methyloxidase type I deficiency hyperreninemic hypoaldosteronism, familial, 1 steroid 18-hydroxylase deficiency corticosterone methyloxidase type 1 deficiency https://rarediseases.info.nih.gov/diseases/5660/18-hydroxylase-deficiency MONDO:0008752 Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death. Alexander disease Alexander's disease AxD ALXDRD alexanders leukodystrophy megalencephaly in infancy accompanied by progressive spasticity and dementia Alexander disease https://rarediseases.info.nih.gov/diseases/5774/alexander-disease MONDO:0008753 A metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy). https://github.com/monarch-initiative/mondo/issues/4985 https://github.com/monarch-initiative/mondo/issues/5682 alcaptonuria alkaptonuria hereditary ochronosis homogentisate 1,2-dioxygenase deficiency homogentisic acid oxidase deficiency aku alkaptonuric ochronosis deficiency of homogentisicase homogentisic acidura ochronosis, hereditary alkaptonuria https://rarediseases.info.nih.gov/diseases/5775/alkaptonuria MONDO:0008754 Alopecia-contractures-dwarfism-intellectual disability syndrome (ACD syndrome) is a form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome. https://github.com/monarch-initiative/mondo/issues/5588 ACD-intellectual disability syndrome ACD intellectual disability syndrome ACD mental retardation syndrome alopecia-contractures-dwarfism intellectual disability syndrome alopecia-contractures-dwarfism mental retardation syndrome alopecia - contractures - dwarfism - intellectual disability syndrome https://rarediseases.info.nih.gov/diseases/605/alopecia-contractures-dwarfism-intellectual-disability-syndrome MONDO:0008755 https://github.com/monarch-initiative/mondo/issues/5588 alopecia-epilepsy-intellectual disability syndrome, Moynahan type Moynahan alopecia syndrome alopecia epilepsy oligophrenia syndrome of Moynahan alopecia-epilepsy-oligophrenia syndrome of Moynahan Moynahan syndrome MONDO:0008756 An extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia. Perniola-Krajewska-Carnevale syndrome alopecia-intellectual disability syndrome alopecia-mental retardation syndrome AMR syndrome 1 Amr syndrome alopecia intellectual disbility syndrome 1 alopecia with severe intellectual deficit alopecia - intellectual disability syndrome MONDO:0008757 The most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body. alopecia universalis congenita atrichia, generalized ALUNC AU alopecia areata universalis alopecia universalis alopecia universalis congenita MONDO:0008758 Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure. AHD AHS Alper syndrome Alper's syndrome Alpers Huttenlocher disease Alpers Huttenlocher syndrome Alpers disease Alpers progressive infantile poliodystrophy Alpers progressive sclerosing poliodystrophy Alpers syndrome Alpers' disease or gray-matter degeneration Alpers-Huttenlocher syndrome mitochondrial DNA depletion syndrome 4A mitochondrial DNA depletion syndrome type 4a progressive neuronal degeneration of childhood with liver disease progressive sclerosing poliodystrophy Alpers diffuse Degeneration of cerebral Gray matter with hepatic cirrhosis MTDPS4A PNDC Poliodystrophia cerebri progressiva diffuse cerebral degeneration in infancy infantile poliodystrophy mitochondrial DNA depletion syndrome 4A (Alpers type) neuronal Degeneration of childhood with liver disease, progressive progressive cerebral poliodystrophy mitochondrial DNA depletion syndrome 4a MONDO:0008759 Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder, resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases. https://github.com/monarch-initiative/mondo/issues/4521 Alpha-ketoglutarate dehydrogenase deficiency oxoglutarate dehydrogenase deficiency 2 alpha ketoglutarate dehydrogenase deficiency 2-ketoglutarate dehydrogenase deficiency ALPHA-ketoglutarate dehydrogenase deficiency Alpha KGD deficiency Alpha-Kgd deficiency Oxoglutaric aciduria oxoglutaricaciduria MONDO:0008760 Beta-ketothiolase (T2) deficiency is a rare organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy or toddlerhood and usually ceasing by adolescence. 2-methyl-3-hydroxybutyricacidemia 3-ketothiolase deficiency 3-oxothiolase deficiency Alpha methylacetoacetic aciduria Alpha-methyl-acetoacetyl-CoA thiolase deficiency BKT T2 deficiency alpha-methylacetoaceticaciduria beta-ketothiolase deficiency mitochondrial acetoacetyl-CoA thiolase deficiency mitochondrial acetoacetyl-coenzyme A thiolase deficiency peroxisomal thiolase deficiency 2-Methyl-3-hydroxybutyric acidemia 3-Ktd deficiency ALPHA-methylacetoacetic aciduria Beta ketothiolase deficiency Mat deficiency mitochondrial acetoacetyl-Coa thiolase deficiency beta-ketothiolase deficiency MONDO:0008762 Autosomal recessive Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance. About15 percentof Alport syndrome cases are inherited in an autosomal recessive pattern and are caused bymutations in both copies of the COL4A3 or COL4A4 genes. Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed. https://github.com/monarch-initiative/mondo/issues/4521 Alport syndrome 2, autosomal recessive Alport syndrome, autosomal recessive Alport syndrome autosomal recessive Alport syndrome recessive type nephropathy and deafness autosomal recessive Alport syndrome https://rarediseases.info.nih.gov/diseases/625/autosomal-recessive-alport-syndrome MONDO:0008763 A multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction. https://github.com/monarch-initiative/mondo/issues/324 ALMS ALSS Alstrom syndrome Alström syndrome Alstrom's syndrome Alstrom syndrome MONDO:0008764 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GUCY2D gene. https://github.com/monarch-initiative/mondo/issues/4069 GUCY2D Leber congenital amaurosis LCA1 Leber congenital amaurosis 1 Leber congenital amaurosis caused by mutation in GUCY2D Leber congenital amaurosis type 1 amaurosis congenita of Leber I CRB LCA amaurosis congenita of Leber 1 amaurosis congenita of Leber, type 1 retinal blindness, congenital Leber congenital amaurosis 1 MONDO:0008765 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPE65 gene. https://github.com/monarch-initiative/mondo/issues/4069 LCA2 Leber congenital amaurosis 2 Leber congenital amaurosis caused by mutation in RPE65 Leber congenital amaurosis type 2 RPE65 Leber congenital amaurosis amaurosis congenita of Leber II amaurosis congenita of Leber 2 amaurosis congenita of Leber, type 2 Leber congenital amaurosis 2 https://rarediseases.info.nih.gov/diseases/636/leber-congenital-amaurosis-2 MONDO:0008766 Amaurosis hypertrichosis is characterised by severe retinal dystrophy marked by visual impairment and profound photophobia without night blindness. Eye examination suggested a cone-rod type of congenital amaurosis. Trichomegaly, bushy eyebrows with synophyrys, and excessive facial and body hair were also reported. The syndrome has been described in two female cousins both born to consanguineous parents. amaurosis congenita cone-rod type with congenital hypertrichosis amaurosis congenita, cone-rod type, with congenital hypertrichosis amaurosis-hypertrichosis syndrome https://rarediseases.info.nih.gov/diseases/637/amaurosis-congenita-cone-rod-type-with-congenital-hypertrichosis MONDO:0008767 A condition associated with mutation(s) in the CLN3 gene, encoding battenin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments. CLN3 CLN3 neuronal ceroid lipofuscinosis ceroid lipofuscinosis, neuronal, type 3 neuronal ceroid lipofuscinosis 3 neuronal ceroid lipofuscinosis caused by mutation in CLN3 neuronal ceroid lipofuscinosis type 3 CLN3 disease CLN3 disease, juvenile Spielmeyer Sjogren disease Spielmeyer-Sjogren disease Vogt Spielmeyer disease Vogt-Spielmeyer disease batten disease ceroid lipofuscinosis, neuronal, 3 neuronal ceroid lipofuscinosis, juvenile neuronal ceroid lipofuscinosis 3 MONDO:0008768 Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN6 gene. CLN4A CLN6 neuronal ceroid lipofuscinosis autosomal recessive neuronal ceroid lipofuscinosis 4A neuronal ceroid lipofuscinosis 4A neuronal ceroid lipofuscinosis caused by mutation in CLN6 neuronal ceroid lipofuscinosis type 4A CLN4A disease Kuf's disease type A Kuf's disease, autosomal recessive adult neuronal ceroid lipofuscinosis 4A ceroid lipofuscinosis, neuronal, 4A, autosomal recessive ceroid lipofuscinosis, neuronal, 6B (Kufs type) MONDO:0008769 A condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments. late infantile neuronal ceroid lipofuscinosis CLN2 TPP1 neuronal ceroid lipofuscinosis ceroid lipofuscinosis, neuronal, type 2 neuronal ceroid lipofuscinosis 2 variable age at onset neuronal ceroid lipofuscinosis caused by mutation in TPP1 neuronal ceroid lipofuscinosis type 2 CLN2 disease CLN2 disease, juvenile (subtype) CLN2 disease, late infantile (subtype) Jansky-Bielschowsky disease ceroid lipofuscinosis, neuronal, 2 ceroid lipofuscinosis, neuronal, 2, variable Age at onset neuronal ceroid lipofuscinosis, late infantile neuronal ceroid lipofuscinosis 2 MONDO:0008770 AI1C amelogenesis imperfecta type IC amelogenesis imperfecta, type 1C autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion autosomal recessive amelogenesis imperfecta local hypoplastic type amelogenesis imperfecta, hypoplastic, with or without Openbite malocclusion, autosomal recessive amelogenesis imperfecta, local hypoplastic type, autosomal recessive amelogenesis imperfecta, type IC amelogenesis imperfecta type 1C MONDO:0008771 An extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure. https://github.com/monarch-initiative/mondo/issues/3537 https://github.com/monarch-initiative/mondo/issues/4521 AI1G AIGFS FAM20A amelogenesis imperfecta amelogenesis imperfecta and gingival fibromatosis syndrome amelogenesis imperfecta caused by mutation in FAM20A amelogenesis imperfecta hypoplastic with nephrocalcinosis amelogenesis imperfecta type IG amelogenesis imperfecta, type IG (enamel-renal syndrome) amelogenesis imperfecta-gingival hyperplasia syndrome enamel-renal syndrome enamel-renal-gingival syndrome ers absent enamel, nephrocalcinosis and apparently normal calcium metabolism amelogenesis imperfecta and nephrocalcinosis amelogenesis imperfecta hypoplastic type, IG amelogenesis imperfecta nephrocalcinosis amelogenesis imperfecta, hypoplastic, with nephrocalcinosis amelogenesis imperfecta, type IG amelogenesis imperfecta-nephrocalcinosis syndrome enamel renal syndrome generalized enamel hypoplasia and renal dysfunction amelogenesis imperfecta type 1G MONDO:0008772 Any amelogenesis imperfecta in which the cause of the disease is a mutation in the KLK4 gene. https://github.com/monarch-initiative/mondo/issues/4521 AI2A1 KLK4 amelogenesis imperfecta amelogenesis imperfecta caused by mutation in KLK4 amelogenesis imperfecta pigmented hypomaturation type 1 amelogenesis imperfecta type IIA1 amelogenesis imperfecta, type IIA1 amelogenesis imperfecta pigmented hypomaturation type amelogenesis imperfecta, hypomaturation type, IIA1 amelogenesis imperfecta, pigmented hypomaturation type, 1 amelogenesis imperfecta type 2A1 https://rarediseases.info.nih.gov/diseases/9495/amelogenesis-imperfecta-pigmented-hypomaturation-type MONDO:0008773 amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis https://rarediseases.info.nih.gov/diseases/763/amino-aciduria-with-mental-deficiency-dwarfism-muscular-dystrophy-osteoporosis-and-acidosis MONDO:0008774 https://github.com/monarch-initiative/mondo/issues/3796 https://github.com/monarch-initiative/mondo/issues/4521 2-aminoadipic 2-oxoadipic aciduria AMOXAD Ketoadipicaciduria alpha-aminoadipic aciduria alpha-aminoadipic and alpha-ketoadipic aciduria 2-aminoadipic 2-oxoadipic aciduria MONDO:0008775 Amobarbital, deficient N-hydroxylation of Amobarbital, deficient N-hydroxylation of MONDO:0008776 amyloidosis of gingiva and conjunctiva, with intellectual disability amyloidosis of gingiva and conjunctiva, with mental retardation Hornova Dlushosova syndrome amyloidosis of gingiva and conjunctiva with intellectual disability amyloidosis of gingiva and conjunctiva with mental retardation amyloidosis of gingiva and conjunctiva, with intellectual disability https://rarediseases.info.nih.gov/diseases/657/amyloidosis-of-gingiva-and-conjunctiva-with-intellectual-disability MONDO:0008777 Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment. GDCD corneal amyloidosis gelatinous drop-like corneal dystrophy primary familial amyloidosis of the cornea subepithelial amyloidosis of the cornea CDGDL Cdgdl GDLD amyloid corneal dystrophy, Japanese type amyloidosis corneal amyloidosis, corneal corneal dystrophy, gelatinous drop-like corneal dystrophy, lattice type 3 lattice corneal dystrophy type 3 lattice corneal dystrophy, type 3 gelatinous drop-like corneal dystrophy https://rarediseases.info.nih.gov/diseases/9647/amyloidosis-corneal MONDO:0008778 amyloidosis, cutaneous bullous amyloidosis, cutaneous bullous MONDO:0008779 A rare, non-progressive congenital disorder characterized by multiple joint contractures which are present at birth. Arthrogryposes, congenital multiple congenital multiple Arthrogryposes congenital multiple arthrogryposis arthrogryposis MONDO:0008780 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ALS2 gene. ALS2 ALS2 amyotrophic lateral sclerosis amyotrophic lateral sclerosis 2 amyotrophic lateral sclerosis 2, juvenile amyotrophic lateral sclerosis caused by mutation in ALS2 ALS, juvenile amyotrophic lateral sclerosis type 2, juvenile https://rarediseases.info.nih.gov/diseases/9470/amyotrophic-lateral-sclerosis-type-2 MONDO:0008781 A juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia. ALS-dementia complex ALS-dementia Complex amyotrophic lateral sclerosis, juvenile, with dementia juvenile amyotrophic lateral sclerosis with dementia MONDO:0008782 amyotrophic lateral sclerosis with polyglucosan bodies Not in the OMIM series. amyotrophic lateral sclerosis with polyglucosan bodies MONDO:0008783 Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults. ATP-binding cassette transporter A1 deficiency Analphalipoproteinemia Tangier disease defective adenosine triphosphate-binding cassette transporter A1 familial alpha-lipoprotein deficiency familial high density lipoprotein deficiency A-alphalipoprotein neuropathy Alpha high density lipoprotein deficiency disease Analphalipo-proteinemia HDL lipoprotein deficiency disease HDLDT1 cholesterol thesaurismosis familial Hypoalphalipo-proteinemia familial high density lipoprotein deficiency disease high density lipoprotein deficiency, Tangier type high density lipoprotein deficiency, type 1 tgd Tangier disease MONDO:0008785 SIDBA2 anemia, sideroblastic, 2, pyridoxine-refractory anemia, sideroblastic, pyridoxine-refractory, autosomal recessive pyridoxine refractory sideroblastic anemia sideroblastic anemia pyridoxine-refractory autosomal recessive sideroblastic anemia 2 MONDO:0008786 B6-responsive sideroblastic anemia anemia congenital sideroblastic B6-responsive anemia, congenital sideroblastic, B6-responsive anemia, sideroblastic, pyridoxine-responsive, autosomal recessive sideroblastic anemia pyridoxine-responsive autosomal recessive pyridoxine-responsive sideroblastic anemia MONDO:0008787 Congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients. anemia, hypochromic microcytic, with iron overload type 1 AHMIO1 anemia, hypochromic microcytic, with iron overload 1 hypochromic microcytic anemia with iron overload microcytic anemia and hepatic iron overload microcytic anemia with liver iron overload MONDO:0008788 IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment. IRIDA syndrome iron-refractory iron deficiency anemia IRIDA anemia, hypochromic microcytic, with defect in iron metabolism iron-handling disorder, hereditary pseudo-iron-deficiency Anemia IRIDA syndrome MONDO:0008789 anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane MONDO:0008790 anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism MONDO:0008791 Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days. https://github.com/monarch-initiative/mondo/issues/3684 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4616 https://github.com/monarch-initiative/mondo/issues/5588 ANPH anencephaly anencephaly 1 isolated anencephaly/exencephaly absence of a large part of the brain and the skull anencephaly 1 MONDO:0008792 Familial angiolipomatosis is a rare, genetic, subcutaneous tissue disorder characterized by the presence of benign, usually multiple, subcutaneous tumors composed of adipose tissue and blood vessels, typically manifesting as yellow, firm, circumscribed, 1-4 cm in diameter tumors located in the arms, legs and trunk, with deep extension of the lesions between muscles, tendons and joint capsules (without infiltration of these structures), in several members of a single family. Tumors may be tender or mildly painful when palpated and do not regress spontaneously. angiolipoma Microthromboticum angiolipomatosis, familial familial angiolipomatosis MONDO:0008793 angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert Corticomeningeal angiomatosis, myelination of the white substance of the centrum ovale, hemianopsia and marbled skin Divry-Van Bogaert syndrome angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert https://rarediseases.info.nih.gov/diseases/8587/angiomatosis-diffuse-corticomeningeal-of-divry-and-van-bogaert MONDO:0008794 anhidrosis, familial generalized, with abnormal or absent sweat glands anhidrosis, familial generalized, with abnormal or absent sweat glands MONDO:0008795 Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability. https://github.com/monarch-initiative/mondo/issues/5588 Gillespie syndrome GILLESPIE syndrome GLSP aniridia, cerebellar ataxia and mental deficiency aniridia, cerebellar ataxia, and intellectual disability aniridia, cerebellar ataxia, and mental retardation aniridia-cerebellar ataxia-intellectual disability syndrome MONDO:0008796 Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974. https://github.com/monarch-initiative/mondo/issues/5588 Sommer-Rathbun-Battles syndrome Sommer Rathbun Battles syndrome aniridia partial with unilateral renal agenesis and psychomotor retardation aniridia renal agenesis psychomotor retardation aniridia, partial, with unilateral renal agenesis and psychomotor retardation aniridia-renal agenesis-psychomotor retardation syndrome MONDO:0008797 Anodontia is an extreme developmental dental anomaly characterized by the complete absence of all teeth. complete absence of teeth developmental absence of tooth total anodontia of permanent and deciduous teeth absence of permanent teeth anodontia of permanent dentition teeth, permanent, absence of anodontia https://rarediseases.info.nih.gov/diseases/5818/anodontia MONDO:0008798 Any isolated congenital anonychia in which the cause of the disease is a mutation in the RSPO4 gene. HYPONYCHIA congenita RSPO4 isolated congenital anonychia isolated congenital anonychia caused by mutation in RSPO4 nail disorder, nonsyndromic congenital, type 4 nonsyndromic congenital nail disorder 4 nonsyndromic congenital nail disorder type 4 NDNC4 anonychia congenita anonychia congenita totalis anonychia totalis anonychia/hyponychia congenita nail disorder, nonsyndromic congenital, 4 nonsyndromic congenital nail disorder 4 MONDO:0008799 Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula. MCOPS3 anophthalmia/microphthalmia-esophageal atresia syndrome microphthalmia, syndromic type 3 syndromic microphthalmia type 3 Aeg syndrome SOX2 anophthalmia syndrome SOX2-related eye disorders anophthalmia clinical with associated anomalies anophthalmia esophageal genital syndrome anophthalmia microphthalmia esophageal atresia anophthalmia, clinical, with associated anomalies anophthalmia-esophageal-genital syndrome microphthalmia and esophageal atresia syndrome microphthalmia, syndromic 3 optic nerve hypoplasia and abnormalities of the central nervous system syndromic microphthalmia, type 3 anophthalmia/microphthalmia-esophageal atresia syndrome MONDO:0008800 Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly. MLA OAS Ophthalmoacromelic syndrome Waardenburg anophthalmia syndrome anophthalmia-syndactyly syndrome microphthalmia with limb anomalies ophthalmoacromelic syndrome anophthalmia Waardenburg syndrome anophthalmia-syndactyly anophthalmos with limb anomalies anophthalmos-syndactyly microphthalmia with limb anomalies MONDO:0008801 anosmia for isobutyric acid anosmia for isobutyric acid MONDO:0008802 antithrombin, familial hemorrhagic diathesis due to antithrombin, familial hemorrhagic diathesis due to MONDO:0008803 Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures. trapezoidocephaly-synostosis syndrome Antley Bixler syndrome multisynostotic osteodysgenesis with long bone fractures osteodysgenesis, multisynostotic with fractures osteodysgenesis, multisynostotic, with fractures trapezoidocephaly synostosis syndrome Antley-Bixler syndrome https://rarediseases.info.nih.gov/diseases/5826/antley-bixler-syndrome MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis is an extremely rare congenital limb malformation syndrome, described in only 3 patients to date, and characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991. Johnson-Munson syndrome APHALANGY with hemivertebrae Aphalangy of the hands and feet, hemivertebrae, and visceral malformations Johnson Munson syndrome Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome MONDO:0008807 apnea, central sleep sleep apnea, lethal central See https://github.com/monarch-initiative/mondo/issues/46 apnea, central sleep MONDO:0008808 Aplasia cutis congenita - intestinal lymphangiectasia is an extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985. Bronspiegel-Zelnick syndrome autosomal recessive aplasia cutis ACC with intestinal lymphangiectasia aplasia cutis congenita intestinal lymphangiectasia aplasia cutis congenita with intestinal lymphangiectasia aplasia cutis congenita-intestinal lymphangiectasia syndrome MONDO:0008809 Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986. Hamanishi Ueba Tsuji syndrome Hamanishi-Ueba-Tsuji syndrome aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy digital extensor muscle aplasia-polyneuropathy polyneuropathy, hand defect polyneuropathy-hand defect syndrome https://rarediseases.info.nih.gov/diseases/2589/hamanishi-ueba-tsuji-syndrome MONDO:0008810 familial apoC-II deficiency familial apolipoprotein C-II deficiency hyperlipoproteinemia, type IB Apoc2 deficiency C-II Anapolipoproteinemia apolipoprotein C-II deficiency hyperlipoproteinemia, type 1B familial apolipoprotein C-II deficiency MONDO:0008811 XK aprosencephaly is a very rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance. Garcia-Lurie syndrome XK-aprosencephaly XK aprosencephaly syndrome XK-aprosencephaly syndrome Xk syndrome aprosencephaly syndrome aprosencephaly-atelencephaly syndrome atelencephaly XK aprosencephaly https://rarediseases.info.nih.gov/diseases/424/xk-aprosencephaly MONDO:0008812 AREDYLD stands for acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes. This syndrome has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait. https://github.com/monarch-initiative/mondo/issues/5723 acrorenal defect-ectodermal dysplasia-diabetes syndrome AREDYLD acral renal ectodermal dysplasia lipoatrophic diabetes acrorenal Field defect, ectodermal dysplasia, and lipoatrophic diabetes AREDYLD syndrome MONDO:0008813 Intracranial or spinal cavities containing a cerebrospinal-like fluid, the wall of which is composed of arachnoidal cells. They are most often developmental or related to trauma. Intracranial arachnoid cysts usually occur adjacent to arachnoidal cistern and may present with hydrocephalus; headache; seizures; and focal neurologic signs. (From Joynt, Clinical Neurology, 1994, Ch44, pp105-115) arachnoid cysts arachnoid cyst https://rarediseases.info.nih.gov/diseases/17/arachnoid-cysts MONDO:0008814 Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment. https://github.com/monarch-initiative/mondo/issues/4985 arginase deficiency argininemia deficiency of canavanase hyperargininemia Arg1 deficiency hyperargininemia MONDO:0008815 Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction. https://github.com/monarch-initiative/mondo/issues/4985 ASA deficiency ASL deficiency argininosuccinase deficiency argininosuccinatelyase deficiency argininosuccinic acid lyase deficiency argininosuccinic acidemia argininosuccinic aciduria arginosuccinase deficiency deficiency of argininosuccinate lyase arginino succinase deficiency argininosuccinate acidemia argininosuccinate lyase deficiency argininosuccinicaciduria inborn error of urea synthesis, arginino succinic type urea cycle disorder, arginino succinase type argininosuccinic aciduria https://rarediseases.info.nih.gov/diseases/5843/argininosuccinic-aciduria MONDO:0008816 Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache. Arnold-Chiari malformation type 2 Arnold-Chiari malformation type II Chiari malformation type 2 Chiari malformation type II Arnold Chiari malformation type II Arnold-Chiari malformation Chiari type II malformation Cm2 Chiari malformation type II MONDO:0008817 An autosomal recessive genetic disorder caused by mutations in the ENPP1 gene, encoding ectonucleotide pyrophosphatase/phosphodiesterase family member 1. The condition is characterized by calcification and narrowing of medium- and large-sized arteries, resulting in cardiovascular complications. ENPP1 arterial calcification of infancy arterial calcification of infancy caused by mutation in ENPP1 arterial calcification, generalized, of infancy, 1 arterial calcification, generalized, of infancy, type 1 generalized arterial calcification of infancy 1 GACI1 Gaci arterial calcification, idiopathic infantile arteriopathy, occlusive infantile coronary sclerosis, medial, of infancy idiopathic infantile arterial calcification arterial calcification, generalized, of infancy, 1 MONDO:0008818 Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries. arterial tortuosity syndrome ATS arterial tortuosity arterial tortuosity syndrome MONDO:0008819 arteriosclerosis, severe juvenile arteriosclerosis, severe juvenile MONDO:0008821 arthrogryposis, distal, with intellectual disability and characteristic facies arthrogryposis, distal, with mental retardation and characteristic facies arthrogryposis, distal, with intellectual disability and characteristic facies MONDO:0008822 Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VPS33B gene. VPS33B arthrogryposis-renal dysfunction-cholestasis syndrome arthrogryposis, renal dysfunction, and cholestasis 1 arthrogryposis, renal dysfunction, and cholestasis type 1 arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VPS33B ARCS1 Arc syndrome arthrogryposis, renal dysfunction, and cholestasis 1 MONDO:0008823 Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy. AMC neurogenic type AMCN arthrogryposis multiplex congenita neurogenic type neurogenic arthrogryposis multiplex congenita AMC, neurogenic type arthrogryposis multiplex congenita, neurogenic type neurogenic type of AMC arthrogryposis multiplex congenita 2, neurogenic type MONDO:0008824 Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint contractures (arthrogryposis), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities. It is generally accepted that this condition is not a true diagnosis or a specific syndrome, but rather a description of a group of abnormalities resulting from fetal akinesia. About 30% of affected individuals are stillborn; many liveborn infants survive only a short time due to complications of pulmonary hypoplasia. FADS may be inherited in an autosomal recessive manner in some cases and may sometimes be caused by mutations in the RAPSN or DOK7 genes. FADS arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome fetal akinesia deformation sequence arthrogryposis multiplex congenita with pulmonary hypoplasia fetal akinesia sequence fetal akinesia deformation sequence https://rarediseases.info.nih.gov/diseases/9634/fetal-akinesia-deformation-sequence MONDO:0008825 Arthrogryposis multiplex congenita-whistling face syndrome is an extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence. Illum syndrome ILLUM syndrome arthrogryposis multiplex congenita whistling face arthrogryposis, whistling face, and developintellectual disability arthrogryposis, whistling face, and developmental retardation lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system arthrogryposis multiplex congenita-whistling face syndrome MONDO:0008826 Arthrogryposis-hyperkeratosis syndrome, lethal form is an arthrogryposis syndrome, described in two siblings to date, characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993. Johnston-Aarons-Schelley syndrome Johnston Aarons Schelley syndrome Joint contractures, hyperkeratosis, and severe hypoplasia of the posterior columns arthrogryposis with hyperkeratosis arthrogryposis-hyperkeratosis syndrome, lethal form MONDO:0008827 Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED. https://github.com/monarch-initiative/mondo/issues/4948 progressive pseudorheumatoid arthropathy of childhood spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome PPAC PPD SEDT-PA arthropathy, progressive pseudorheumatoid, of childhood progressive pseudorheumatoid chondrodysplasia progressive pseudorheumatoid dysplasia spondyloepiphyseal dysplasia tarda - progressive arthropathy spondyloepiphyseal dysplasia tarda with progressive arthropathy progressive pseudorheumatoid arthropathy of childhood MONDO:0008828 Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis. CACP CACP syndrome Jacobs syndrome PAC syndrome arthropathy-camptodactyly syndrome camptodactyly-arthropathy-coxa vara-pericarditis syndrome camptodactyly-arthropathy-pericarditis syndrome congenital familial hypertrophic synovitis familial fibrosing serositis pericarditis-arthropathy-camptodactyly syndrome arthropathy camptodactyly syndrome camptodactyly arthropathy coxa vara pericarditis syndrome camptodactyly arthropathy pericarditis syndrome camptodactyly-arthropathy-coxa-vara-pericarditis syndrome fibrosing serositis, familial hypertrophic synovitis, congenital familial pericarditis arthropathy camptodactyly syndrome camptodactyly-arthropathy-coxa vara-pericarditis syndrome https://rarediseases.info.nih.gov/diseases/306/camptodactyly-arthropathy-coxa-vara-pericarditis-syndrome MONDO:0008829 Chylous ascites is a rare form of ascites caused by accumulation of lymph in the peritoneal cavity, usually due to intra-abdominal malignancy, liver cirrhosis or abdominal surgery complications, and present with painless but progressive abdominal distension, dyspnea and weight gain. ascites, chylous congenital chylous ascites chylous ascites https://rarediseases.info.nih.gov/diseases/1359/chylous-ascites MONDO:0008830 Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis). https://github.com/monarch-initiative/mondo/issues/4948 aspartylglucosaminidase deficiency aspartylglucosaminuria aspartylglycosaminuria glycosylasparaginase deficiency AGU Aga deficiency Aspartylglucosamidase (AGA) deficiency Glycoasparaginase aspartylglucosaminuria MONDO:0008831 An asphyxiating thoracic dystrophy associated with variation in the region 15q13. ATD1 SRTD1 asphyxiating thoracic dystrophy 1 asphyxiating thoracic dystrophy type 1 short-rib thoracic dysplasia 1 with or without polydactyly Jeune syndrome thoracic-pelvic-phalangeal dystrophy asphyxiating thoracic dystrophy 1 MONDO:0008832 A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has material basis in homozygous mutation in the GDF1 gene on chromosome 19p12. https://github.com/monarch-initiative/mondo/issues/4521 right atrial isomerism (disease) Ivemark syndrome asplenia with cardiovascular anomalies right atrial isomerism right atrial isomerism (disease) right atrial isomerism (ivemark) Polyasplenia RAI Vah, autosomal recessive asplenia syndrome bilateral right-sidedness sequence heterotaxy, Visceroatrial, autosomal recessive polysplenia syndrome right isomerism splenic agenesis syndrome right atrial isomerism MONDO:0008833 Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NPHP3 gene. NPHP3 renal-hepatic-pancreatic dysplasia renal-hepatic-pancreatic dysplasia 1 renal-hepatic-pancreatic dysplasia caused by mutation in NPHP3 renal-hepatic-pancreatic dysplasia type 1 RHPD1 Rhpd renal-hepatic-pancreatic dysplasia 1 MONDO:0008834 asthma, nasal polyps, and aspirin intolerance Asa triad asthma and nasal polyps asthma, aspirin-induced, susceptibility to asthma, nasal polyps, and aspirin intolerance MONDO:0008835 asthma, short stature, and elevated IgA asthma, short stature, and elevated IgA MONDO:0008836 ataxia with myoclonic epilepsy and presenile dementia ataxia with myoclonic epilepsy and presenile dementia MONDO:0008837 ataxia, deafness, and cardiomyopathy ataxia, deafness, and cardiomyopathy MONDO:0008838 This syndrome is characterised by progressive ataxia beginning during childhood, deafness and intellectual deficit. Reardon-Baraitser syndrome ataxia-hearing loss-intellectual disability syndrome Adr syndrome Reardon Wilson Cavanagh syndrome ataxia, hearing loss, and intellectual disability ataxia, hearing loss, and mental retardation ataxia-deafness-retardation syndrome familial ataxia, deafness, and developmental delay ataxia - deafness - intellectual disability syndrome MONDO:0008839 ataxia-microcephaly-cataract syndrome AMC syndrome ataxia-microcephaly-cataract syndrome MONDO:0008840 Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer. https://github.com/monarch-initiative/mondo/issues/5682 Louis Bar syndrome Louis-Bar syndrome ataxia - telangiectasia ataxia telangiectasia ataxia telangiectasia syndrome boder-Sedgwick syndrome AT AT, complementation group A AT, complementation group C AT, complementation group D AT, complementation group E AT1 ataxia - telangiectasia variant ataxia-telangiectasia cerebello-oculocutaneous telangiectasia immunodeficiency with ataxia telangiectasia ataxia telangiectasia https://rarediseases.info.nih.gov/diseases/5862/ataxia-telangiectasia MONDO:0008841 ataxia-telangiectasia with generalized skin pigmentation and early death ataxia-telangiectasia with generalized skin pigmentation and early death MONDO:0008842 A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia. https://github.com/monarch-initiative/mondo/issues/5347 AOA1 APTX oculomotor apraxia or related oculomotor disease ataxia with oculomotor apraxia type 1 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia oculomotor apraxia or related oculomotor disease caused by mutation in APTX EAOH EOCA-HA ataxia, adult-onset, with oculomotor apraxia ataxia-oculomotor apraxia 1 ataxia-oculomotor apraxia syndrome ataxia-oculomotor apraxia type 1 ataxia-telangiectasia-like syndrome cerebellar ataxia, early-onset, with hypoalbuminemia early-onset ataxia with oculomotor apraxia and hypoalbuminemia early-onset cerebellar ataxia with hypoalbuminemia Editor note: see PMID:17094036 for a discussion of relationship to CoQ10 deficiency. This is not a primary CoQ10 deficiency, ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia MONDO:0008843 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome is characterised by sensorineural deafness, diabetes mellitus, progressive neurological deterioration with photomyoclonic epilepsy, and progressive nephropathy. It has been described in two brothers. Premature atherosclerosis of renal, coronary, and cerebral arteries and the aorta was also observed. Feigenbaum-Bergeron-Richardson syndrome Feigenbaum Bergeron Richardson syndrome atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, and neurodegenerative disorder atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome MONDO:0008844 Athrombia, essential Athrombia, essential MONDO:0008845 atonic-astatic syndrome of Foerster atonic-astatic syndrome of Foerster MONDO:0008846 Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated. atransferrinemia congenital atransferrinemia congenital hypotransferrinemia familial hypotransferrinemia hereditary atransferrinemia hypotransferrinemia, familial transferrin serum level quantitative trait locus 1 atransferrinemia https://rarediseases.info.nih.gov/diseases/9595/atransferrinemia MONDO:0008847 Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities. atrichia with papular lesions papular atrichia APL atrichia with papular lesions MONDO:0008848 Impaired conduction of cardiac impulse that can occur anywhere along the conduction pathway, such as between the sinoatrial node and the right atrium (sa block) or between atria and ventricles (av block). Heart blocks can be classified by the duration, frequency, or completeness of conduction block. Reversibility depends on the degree of structural or functional defects. atrioventricular dissociation (disease) atrioventricular dissociation atrioventricular dissociation (disease) A-V dissociation atrioventricular dissociation MONDO:0008849 atrophoderma vermiculata folliculitis ulerythematosa reticulate Atrophodermia reticulata Atrophodermia reticulata symmetrica faciei Atrophodermia vermiculata atrophoderma vermiculatum ava folliculitis ulerythematosa folliculitis ulerythematosa reticulata honeycomb atrophy atrophoderma vermiculata https://rarediseases.info.nih.gov/diseases/9744/atrophoderma-vermiculata MONDO:0008850 Cooper-Wang-Jabs syndrome is a multiple malformation syndrome characterized by atresia of the auditory canal together with ventricular septal defect, anteriorly displaced anus, mild clubfoot, and intellectual deficit. It has been described only once, in two sisters. The mode of inheritance is most likely autosomal recessive. aural atresia-multiple congenital anomalies-intellectual disability syndrome aural atresia, multiple congenital anomalies, and intellectual disability aural atresia, multiple congenital anomalies, and mental retardation Cooper-Jabs syndrome MONDO:0008853 Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia. Barber-Say syndrome hypertrichosis-atrophic skin-ectropion-macrostomia syndrome BARBER-SAY syndrome BBRSAY Barber Say syndrome Bss hypertrichosis atrophic skin ectropion macrostomia hypertrichosis, atrophic skin, ectropion, and macrostomia Barber-Say syndrome https://rarediseases.info.nih.gov/diseases/819/barber-say-syndrome MONDO:0008854 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13. https://github.com/monarch-initiative/mondo/issues/4521 BBS1 Bardet-Biedl syndrome 1 Bardet-Biedl syndrome 1, modifier of Bardet-Biedl syndrome type 1 Bardet-Biedl syndrome 1 MONDO:0008855 Immunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood. https://github.com/monarch-initiative/mondo/issues/4521 BLSII Bare lymphocyte syndrome type 2 HLA class 2-negative SCID HLA class 2-negative severe combined immunodeficiency MHC class II deficiency, complementation group B MHC class II expression deficiency SCID due to absent class II HLA antigens bare lymphocyte syndrome type II immunodeficiency by defective expression of HLA class type 2 major histocompatibility complex class II expression deficiency BARE lymphocyte syndrome BARE lymphocyte syndrome, type II BARE lymphocyte syndrome, type II, complementation group B, included BARE lymphocyte syndrome, type II, complementation group C, included BARE lymphocyte syndrome, type II, complementation group D, included BARE lymphocyte syndrome, type II, complementation group E, included BLS BLS 2 BLS type II BLS, type II Bare lymphocyte syndrome Bare lymphocyte syndrome 2 Bare lymphocyte syndrome, type 2 Bare lymphocyte syndrome, type II Bare lymphocyte syndrome, type II, complementation group A Bare lymphocyte syndrome, type II, complementation group B Bare lymphocyte syndrome, type II, complementation group C Bare lymphocyte syndrome, type II, complementation group D Bare lymphocyte syndrome, type II, complementation group E Bls, type 2 SCID, HLA CLASS II-NEGATIVE BARE lymphocyte syndrome, type II, complementation group A, included SCID, HLA Class 2-negative SCID, HLA Class II-negative immunodeficiency by defective expression of HLA class 2 severe combined immunodeficiency, HLA Class II-negative severe combined immunodeficiency, HLA class ii-negative MHC class II deficiency https://rarediseases.info.nih.gov/diseases/824/bare-lymphocyte-syndrome-2 MONDO:0008856 https://github.com/monarch-initiative/mondo/issues/4472 https://github.com/monarch-initiative/mondo/issues/4521 immunodeficiency 27A immunodeficiency 27A, mycobacteriosis, AR immunodeficiency type 27A IFNGR1 deficiency, autosomal recessive IMD27A atypical mycobacterial infection, disseminated atypical mycobacterial infection, familial disseminated atypical mycobacteriosis, familial immunodeficiency 27A, Mycobacteriosis, autosomal recessive mycobacterial disease, Mendelian susceptibility to immunodeficiency 27A MONDO:0008857 Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984. lethal hydrocephalus-cardiac malformation-dense bones syndrome Beemer Ertbruggen syndrome Beemer lethal malformation syndrome hydrocephalus, Cardiac malformation, dense bones, etc. hydrocephalus, cardiac malformation, dense bones, etc peculiar facial appearance, hydrocephalus, double-outlet right ventricle, genital anomalies and dense bones with lethal outcome Beemer-Ertbruggen syndrome https://rarediseases.info.nih.gov/diseases/846/beemer-ertbruggen-syndrome MONDO:0008858 A disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner. Treatment depends on the specific signs and symptoms seen in the patient. https://github.com/monarch-initiative/mondo/issues/5475 Behr syndrome BEHRS optic atrophy in early childhood, associated with ataxia, spasticity, intellectual disability, and posterior column sensory loss optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss optic atrophy, infantile hereditary, Behr complicated form of optic atrophy, infantile hereditary, with neurologic abnormalities Editor note: note ORDO obsoleting Behr disease and replaced by the more generic SHON but we retain for gene-speicific form Behr syndrome https://rarediseases.info.nih.gov/diseases/849/behr-syndrome MONDO:0008859 berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification cerebral aneurysm-cirrhosis syndrome berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification https://rarediseases.info.nih.gov/diseases/8552/berry-aneurysm-cirrhosis-pulmonary-emphysema-and-cerebral-calcification MONDO:0008860 https://github.com/monarch-initiative/mondo/issues/4521 beta-aminoisobutyric acid, urinary excretion of BAIBA BETA-aminoisobutyric aciduria Baib urinary excretion Beta-aminoisobutyric aciduria hyper-Beta-aminoisobutyric aciduria beta-aminoisobutyric acid, urinary excretion of MONDO:0008861 Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC1 gene. 3-Methylcrotonyl-Coa carboxylase 1 deficiency 3-methylcrotonyl-CoA carboxylase 1 deficiency 3-methylcrotonyl-CoA carboxylase deficiency caused by mutation in MCCC1 MCCC1 3-methylcrotonyl-CoA carboxylase deficiency 3 Alpha methylcrotonylglycinuria 1 3 Methylcrotonyl-CoA carboxylase 1 deficiency 3 Methylcrotonyl-CoA carboxylase deficiency 3 alpha methylcrotonylglycinuria 1 3 methylcrotonylglycinuria 3-MCC deficiency 3-METHYLCROTONYL-CoA carboxylase 1 deficiency 3-Methylcrotonyl-Coa carboxylase deficiency 3-Methylcrotonyl-Coenzyme A carboxylase deficiency 3-methylcrotonylglycinuria 3-methylcrotonylglycinuria 1 3-methylcrotonylglycinuria I Bmcc deficiency MCC 1 deficiency MCC deficiency MCC1 deficiency MCC1D MCCD type 1 Mcc1 deficiency Mccd type 1 Methylcrotonyl-Coa carboxylase deficiency deficiency of methylcrotonoyl-Coa carboxylase methylcrotonoyl-CoA carboxylase 1 deficiency methylcrotonylglycinuria type 1 methylcrotonylglycinuria type I 3-methylcrotonyl-CoA carboxylase 1 deficiency https://rarediseases.info.nih.gov/diseases/5665/3-methylcrotonyl-coa-carboxylase-1-deficiency MONDO:0008862 Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC2 gene. 3-Methylcrotonyl-CoA carboxylase 2 deficiency 3-methylcrotonyl-CoA carboxylase deficiency caused by mutation in MCCC2 MCCC2 3-methylcrotonyl-CoA carboxylase deficiency 3 alpha methylcrotonyl-CoA carboxylase 2 deficiency 3 alpha methylcrotonylglycinuria 2 3-METHYLCROTONYL-CoA carboxylase 2 deficiency 3-methylcrotonylglycinuria 2 MCC 2 deficiency MCC2 deficiency MCC2D methylcrotonylglycinuria type 2 methylcrotonylglycinuria, type 2 3-methylcrotonyl-CoA carboxylase 2 deficiency MONDO:0008863 A rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes. phytosterolemia sitosterolemia STSL macrothrombocytopenia/stomatocytosis, Mediterranean plant sterol storage disease retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body sitosterolemia https://rarediseases.info.nih.gov/diseases/7653/sitosterolemia MONDO:0008864 Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997. https://github.com/monarch-initiative/mondo/issues/5588 Biemond syndrome type 2 hypogonadism-short stature-coloboma-preaxial polydactyly syndrome BIEMOND syndrome II BS2 Biemond syndrome 2 iris coloboma, intellectual disability, obesity, hypogenitalism, and postaxial polydactyly iris coloboma, mental retardation, obesity, hypogenitalism, and postaxial polydactyly Editor note: see also type 1, e.g. GARD:0000881 Biemond syndrome type 2 https://rarediseases.info.nih.gov/diseases/882/biemond-syndrome-2 MONDO:0008865 Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness. BCD Bietti crystalline corneoretinal dystrophy Bietti crystalline retinopathy Bietti's crystalline dystrophy Bietti crystalline dystrophy Bietti tapetoretinal Degeneration with marginal corneal dystrophy Bietti crystalline corneoretinal dystrophy https://rarediseases.info.nih.gov/diseases/10050/bietti-crystalline-corneoretinal-dystrophy MONDO:0008866 Autosomal recessive form of bifid nose. autosomal recessive bifid nose bifid nose, autosomal recessive Nose, Median cleft of median fissure of Nose bifid nose, autosomal recessive MONDO:0008867 A rare, biliary tract disease characterized by progressive obliterative cholangiopathy of the intra- and extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent neonatal jaundice and acholic stool. atresia of bile duct atresia of bile ducts biliary atresia, congenital congenital biliary atresia isolated atresia of bile ducts non-syndromic biliary atresia isolated biliary atresia biliary atresia https://rarediseases.info.nih.gov/diseases/12010/biliary-atresia MONDO:0008868 biliary malformation with renal tubular insufficiency cholestatic jaundice and renal tubular insufficiency biliary malformation with renal tubular insufficiency MONDO:0008869 Any Seckel syndrome in which the cause of the disease is a mutation in the ATR gene. https://github.com/monarch-initiative/mondo/issues/4948 ATR Seckel syndrome SCKL1 Seckel syndrome 1 Seckel syndrome 3 Seckel syndrome caused by mutation in ATR Seckel syndrome type 1 microcephalic primordial dwarfism I Bird-headed dwarfism Sckl Seckel-type dwarfism microcephalic primordial dwarfism 1 nanocephalic dwarfism Seckel syndrome 1 MONDO:0008870 Microcephalic primordial dwarfism, Montreal type is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970. https://github.com/monarch-initiative/mondo/issues/5588 Bird-headed dwarfism with features of premature senility Bird-headed dwarfism, Montreal type microcephalic primordial dwarfism, Montreal type premature senility, premature graying and loss of scalp hair and wrinkled skin of the palms bird headed-dwarfism, Montreal type MONDO:0008871 A microcephalic osteodysplastic primordial dwarfism that has material basis in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA (snRNA) component of the U12-dependent (minor) spliceosome, on chromosome 2q14.2. It is characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular, auditory sensory deficits. https://github.com/monarch-initiative/mondo/issues/4948 brachymelic primordial dwarfism cephaloskeletal dysplasia low-birth-weight dwarfism with skeletal dysplasia osteodysplastic primordial dwarfism type I Brachymelic primordial dwarfism Cephaloskeletal dysplasia MOPD 1 MOPD1 Taybi-Linder syndrome microcephalic osteodysplastic primordial dwarfism, type 1 microcephalic osteodysplastic primordial dwarfism, type I osteodysplastic primordial dwarfism, type 1 microcephalic osteodysplastic primordial dwarfism type I MONDO:0008872 A form of microcephalic primordial dwarfism (MPD) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease. https://github.com/monarch-initiative/mondo/issues/4948 MOPD type II Majewski osteodysplastic primordial dwarfism type II osteodysplastic primordial dwarfism type II MOPD II MOPD2 Mopd 2 microcephalic osteodysplastic primordial dwarfism type 2 microcephalic osteodysplastic primordial dwarfism with tooth abnormalities microcephalic osteodysplastic primordial dwarfism, type 2 microcephalic osteodysplastic primordial dwarfism, type II osteodysplastic primordial dwarfism type 2 osteodysplastic primordial dwarfism, type 2 microcephalic osteodysplastic primordial dwarfism type II https://rarediseases.info.nih.gov/diseases/9844/microcephalic-osteodysplastic-primordial-dwarfism-type-2 MONDO:0008873 Mopd 3 Mopd, Caroline Crachami type Mopd, Sicilian fairy type microcephalic osteodysplastic primordial dwarfism, Caroline Crachami type microcephalic osteodysplastic primordial dwarfism, Sicilian fairy type microcephalic osteodysplastic primordial dwarfism, type III osteodysplastic primordial dwarfism, type 3 microcephalic osteodysplastic primordial dwarfism, type 3 MONDO:0008874 Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989. Bangstad syndrome ataxia-diabetes-goiter-gonadal insufficiency syndrome Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter and primary gonadal insufficiency Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency Bangstad syndrome https://rarediseases.info.nih.gov/diseases/812/bangstad-syndrome MONDO:0008875 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome is characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. It has been described in six members of three related families. Transmission is autosomal recessive. Frydman-Cohen-Karmon syndrome Frydman Cohen Karmon syndrome blepharophimosis - ptosis - esotropia - syndactyly - short stature blepharophimosis with ptosis, syndactyly, and short stature blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome MONDO:0008876 Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer. BSyn Bloom syndrome Bloom-Torre-Machacek syndrome congenital telangiectatic erythema syndrome BLM BLS BS MGRISCE1 congenital telangiectatic erythema growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability microcephaly, growth restriction, and increased sister chromatid exchange 1 Bloom syndrome https://rarediseases.info.nih.gov/diseases/915/bloom-syndrome MONDO:0008877 Blue Diaper syndrome is a hereditary metabolic disorder characterised by hypercalcaemia with nephrocalcinosis and indicanuria. https://github.com/monarch-initiative/mondo/issues/4985 Drummond syndrome blue diaper syndrome familial hypercalcemia-nephrocalcinosis-indicanuria syndrome hypercalcemia, familial, with nephrocalcinosis and indicanuria blue diaper syndrome https://rarediseases.info.nih.gov/diseases/5939/blue-diaper-syndrome MONDO:0008878 Bone dysplasia lethal Holmgren type (BDLH) is a lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. It was described in three siblings from healthy, non-consanguineous parents of Finnish and in four siblings from non-consanguineous parents of French origin with no family history of dwarfism. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description of BDLH in the literature since 1988. autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type bone dysplasia lethal Holmgren type bone dysplasia, lethal, Holmgren type bone dysplasia, lethal Holmgren type https://rarediseases.info.nih.gov/diseases/922/bone-dysplasia-lethal-holmgren-type MONDO:0008879 Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet. https://github.com/monarch-initiative/mondo/issues/5588 Bowen syndrome, Hutterite type Bowen-Conradi syndrome BWCNS Bowen Hutterite syndrome Bowen Hutterite syndrome (formerly) Bowen Hutterite syndrome, formerly Bowen-Conradi Hutterite syndrome Bowen-Conradi syndrome https://rarediseases.info.nih.gov/diseases/5950/bowen-conradi-syndrome MONDO:0008880 Bowen syndrome Bowen syndrome of multiple malformations Bowen syndrome of multiple malformations MONDO:0008881 Kyphomelic dysplasia is a prenatal skeletal disease that causes dwarfism characterized bythe following: a disproportionately short stature with a short narrow chest,shortening and bending (bowing)of the limbs, flared irregular metaphyses of the bones, and characteristicfacial features.Bone changes are said to improve with age.Kyphomelic dysplasia is inherited in an autosomal recessive pattern. Recent studies indicate that Kyphomelic dysplasia is no longerconsidered it's ownentity and that individual cases should be further evaluated andre-classified as another existing chondrodysplasias, such as Schwartz-Jampel syndrome. https://github.com/monarch-initiative/mondo/issues/4948 kyphomelic dysplasia bowing, congenital, with short bones congenital bowing with short bones kyphomelic dysplasia https://rarediseases.info.nih.gov/diseases/10149/kyphomelic-dysplasia MONDO:0008882 Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae. bowing of long bones congenital bowing of long bones, asymmetric and symmetric congenital bowing of long bones https://rarediseases.info.nih.gov/diseases/953/bowing-of-long-bones-congenital MONDO:0008883 brachydactyly, type A2, with microcephaly brachydactyly, type A2, with microcephaly MONDO:0008884 A syndrome is characterised by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive. https://github.com/monarch-initiative/mondo/issues/3687 BRACHYMETAPODY-anodontia-hypotrichosis-ALBINOIDISM anodontia-hypotrichosis syndrome brachymetapody anodontia hypotrichosis albinoidism oculoosteocutaneous syndrome oculoosteocutaneous syndrome https://rarediseases.info.nih.gov/diseases/992/brachymetapody-anodontia-hypotrichosis-albinoidism MONDO:0008885 An extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971. https://github.com/monarch-initiative/mondo/issues/5588 BSG syndrome ELSAHY-Waters syndrome ESWS Elsahy-Waters syndrome brachioskeletogenital syndrome hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss hypospadias-hypertelorism-coloboma and deafness syndrome branchio-skeleto-genital syndrome Elsahy-Waters syndrome MONDO:0008886 Sabinas brittle hair syndrome brittle hair syndrome, Sabinas type Sabinas syndrome brittle hair and mental Deficit Sabinas brittle hair syndrome https://rarediseases.info.nih.gov/diseases/313/sabinas-brittle-hair-syndrome MONDO:0008887 https://github.com/monarch-initiative/mondo/issues/4521 bronchiectasis with or without elevated sweat chloride 1 bronchiectasis with or without elevated sweat chloride 1, modifier of bronchiectasis with or without elevated sweat chloride type 1 BESC1 cystic fibrosis-like syndrome bronchiectasis with or without elevated sweat chloride 1 MONDO:0008888 Williams-Campbell syndrome BRONCHOMALACIA tracheobronchomalacia Williams-Campbell syndrome MONDO:0008889 Buerger disease, also known as thromboangiitis obliterans (TAO), is a rare inflammatory non-necrotizing vascular disease affecting the small- and medium-sized arteries and veins of the upper and lower extremities characterized by endarteritis and vaso-occlusion due to occlusive thrombus development. The development and progression of the disease is consistently associated with exposure to tobacco. Buerger's disease presenile gangrene thromboangiitis obliterans thromboangiitis obliterans [Buerger's disease] BUERGER disease TAO inflammatory occlusive peripheral vascular disease occlusive peripheral vascular disease thromboangiitis obliterans MONDO:0008890 Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue. Additional symptoms include less prominent weakness in the arms and legs, and outbursts of laughing or crying (called emotional lability). Progressive bulbar palsy is considered a variant form of amyotrophic lateral sclerosis (ALS). Many people with progressive bulbar palsy later develop ALS. While there is no cure for progressive bulbar palsy or for ALS, doctors can treat symptoms. https://github.com/monarch-initiative/mondo/issues/127 Fazio-Londe disease bulbar palsy, progressive, of childhood progressive bulbar atrophy progressive bulbar palsy https://rarediseases.info.nih.gov/diseases/10928/progressive-bulbar-palsy MONDO:0008891 A progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy. Brown-Vialetto-van Laere syndrome Fazio-Londe syndrome disorder of riboflavin transmembrane transporter activity riboflavin transmembrane transporter activity disease sensorineural hearing loss-pontobulbar palsy syndrome Brown-Vialetto-Van Laere syndrome 1 BVVLS BVVLS1 pontobulbar palsy and neurosensory deafness progressive bulbar palsy with sensorineural deafness riboflavin transporter deficiency https://rarediseases.info.nih.gov/diseases/9993/riboflavin-transporter-deficiency MONDO:0008892 PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features. https://github.com/monarch-initiative/mondo/issues/4521 Byler disease FIC1 deficiency PFIC1 cholestasis, progressive familial intrahepatic 1 cholestasis, progressive familial intrahepatic, type 1 Byler's disease cholestasis, fatal intrahepatic cholestasis, progressive familial intrahepatic, 1 progressive familial intrahepatic cholestasis severe ATP8B1 deficiency progressive familial intrahepatic cholestasis type 1 MONDO:0008893 C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability. C syndrome OTCS Opitz C trigonocephaly Opitz trigonocephaly C syndrome Opitz trigonocephaly syndrome trigonocephaly C syndrome trigonocephaly syndrome C syndrome https://rarediseases.info.nih.gov/diseases/5978/c-syndrome MONDO:0008894 Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait. https://github.com/monarch-initiative/mondo/issues/5588 CAHMR syndrome cataract, hypertrichosis, intellectual disability syndrome cataract, hypertrichosis, mental retardation syndrome cataract-hypertrichosis-intellectual disability syndrome MONDO:0008895 Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints. CALJA calcification of joints and arteries ACDC arterial calcification and distal joint calcification arterial calcification due to CD73 deficiency arterial calcification due to deficiency of Cd73 hereditary arterial and articular multiple calcification syndrome MONDO:0008896 Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. campomelia, Cumming type Cumming syndrome campomelia Cumming type campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys cervical lymphocele with bowed long bones campomelia, Cumming type https://rarediseases.info.nih.gov/diseases/1061/campomelia-cumming-type MONDO:0008898 Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. FTSS GCS 1 GCS1 camptodactyly syndrome Guadalajara type 1 camptodactyly syndrome, Guadalajara, type 1 camptodactyly syndrome, Guadalajara, type I faciothoracoskeletal syndrome camptodactyly syndrome, Guadalajara type 1 https://rarediseases.info.nih.gov/diseases/1067/camptodactyly-syndrome-guadalajara-type-1 MONDO:0008899 Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985. Guadalajara camptodactyly syndrome type II camptodactyly syndrome Guadalajara type 2 camptodactyly syndrome, Guadalajara, type 2 camptodactyly syndrome, Guadalajara, type II camptodactyly syndrome, Guadalajara type 2 https://rarediseases.info.nih.gov/diseases/1068/camptodactyly-syndrome-guadalajara-type-2 MONDO:0008900 Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome is an extremely rare chondrodysplastic malformation syndrome that is characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly (hammertoes) and scoliosis. A mild facial dysmorphism including a broad nose and flaring nostrils, and a mild intellectual disability were also noted. Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome has been described once in 3 siblings and is suspected to follow autosomal recessive transmission. There have been no further descriptions in the literature since 1972. camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia MONDO:0008901 Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics. Tel Hashomer camptodactyly syndrome camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases Tel Hashomer camptodactyly syndrome https://rarediseases.info.nih.gov/diseases/5128/tel-hashomer-camptodactyly-syndrome MONDO:0008902 camptodactyly-ichthyosis syndrome camptodactyly ichthyosis syndrome camptodactyly-ichthyosis syndrome https://rarediseases.info.nih.gov/diseases/10134/camptodactyly-ichthyosis-syndrome MONDO:0008903 A malignant neoplasm involving the lung. https://github.com/monarch-initiative/mondo/issues/4521 adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation adenocarcinoma of lung, somatic cancer of lung lung cancer lung cancer, protection against, autosomal dominant, somatic mutation lung cancer, resistance to, autosomal dominant, somatic mutation lung cancer, somatic lung cancer, susceptibility to, autosomal dominant, somatic mutation malignant lung neoplasm malignant lung tumor malignant neoplasm of lung malignant neoplasm of the lung malignant tumor of lung malignant tumor of the lung nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation nonsmall cell lung cancer, somatic nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation Nonsmall cell lung cancer alveolar cell carcinoma lung cancer, protection against lung neoplasm lung cancer MONDO:0008904 camptomelic syndrome, long-limb type Camptomelic syndrome long limb type campomelic syndrome long limb type campomelic syndrome, long-limb type camptomelic syndrome, long-limb type https://rarediseases.info.nih.gov/diseases/1071/camptomelic-syndrome-long-limb-type MONDO:0008905 https://github.com/monarch-initiative/mondo/issues/4521 candidiasis, familial, 2, autosomal recessive candidiasis, familial, type 2 invasive candidiasis-deep dermatophytosis syndrome CANDF2 CARD9 deficiency CARD9 immunodeficiency candidiasis familial chronic mucocutaneous, autosomal recessive candidiasis, familial chronic mucocutaneous, autosomal recessive candidiasis, familial, 2 predisposition to invasive fungal disease due to CARD9 deficiency MONDO:0008907 The most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults. https://github.com/monarch-initiative/mondo/issues/5682 CDG 1A CDG syndrome type Ia CDG-IA CDG1A PMM2-CDG PMM2-congenital disorder of glycosylation carbohydrate deficient glycoprotein syndrome type Ia congenital disorder of glycosylation type 1a congenital disorder of glycosylation type Ia phosphomannomutase 2 deficiency Jaeken syndrome PMM2-CDG (CDG-Ia) carbohydrate-deficient glycoprotein syndrome type 1A carbohydrate-deficient glycoprotein syndrome type 1A (formerly) carbohydrate-deficient glycoprotein syndrome, type Ia carbohydrate-deficient glycoprotein syndrome, type Ia, formerly congenital disorder of glycosylation, type Ia PMM2-congenital disorder of glycosylation MONDO:0008908 MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21). CDG syndrome type IIa CDG-IIa CDG2A MGAT2-CDG N-acetylglucosaminyltransferase 2 deficiency carbohydrate deficient glycoprotein syndrome type IIa congenital disorder of glycosylation type 2a congenital disorder of glycosylation type IIa Alkuraya syndrome CDG 2A CDG IIa CDGS2 MGAT2-CDG (CDG-IIa) carbohydrate-deficient glycoprotein syndrome type 2 carbohydrate-deficient glycoprotein syndrome, type II carbohydrate-deficient glycoprotein syndrome, type II, formerly carbohydrate-deficient glycoprotein syndrome, type II, formerly; CDGS2, formerly congenital disorder of glycosylation, type IIa intellectual disability, Growth retardation, prominent columella, and open mouth mental retardation, Growth retardation, prominent columella, and open mouth MGAT2-congenital disorder of glycosylation MONDO:0008909 https://github.com/monarch-initiative/mondo/issues/4069 congenital disorder of glycosylation, type i/IIx CDG X CDG-X congenital disorder of glycosylation type I/IIX congenital disorder of glycosylation, type i/IIx https://rarediseases.info.nih.gov/diseases/9840/congenital-disorder-of-glycosylation-type-iiix MONDO:0008910 An autosomal recessive condition caused by mutation(s) in the CPN1 gene, encoding carboxypeptidase N catalytic chain. It may be characterized by episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity. carboxypeptidase N deficiency carboxypeptidase N deficiency MONDO:0008911 cardiac lipidosis, familial cardiac lipidosis, familial MONDO:0008912 cardiac septal defects with coarctation of the aorta cardiac septal defects with coarctation of the aorta MONDO:0008913 cardiac valvular defect, developmental CARDIAC valvular defect, developmental CVDD cardiac valvular defect, developmental MONDO:0008914 cardioauditory syndrome of Sanchez Cascos Sanchez Cascos cardioauditory syndrome cardioauditory syndrome of Sanchez Cascos https://rarediseases.info.nih.gov/diseases/8519/cardioauditory-syndrome-of-sanchez-cascos MONDO:0008915 A syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH). Malouf syndrome Najjar syndrome cardiogenital syndrome cardiomyopathy with primary testicular failure cardiomyopathy, congestive, with hypergonadotropic hypogonadism cardiomyopathy, dilated, with hypergonadotropic hypogonadism cardiomyopathy, dilated, with premature ovarian failure dilated cardiomyopathy with hypergonadotropic hypogonadism genital anomaly with cardiomyopathy dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome MONDO:0008916 cardiomyopathy associated with myopathy and sudden death cardiomyopathy associated with myopathy and sudden death MONDO:0008917 Heart defects limb shortening is an association disorder combining congenital heart malformation and skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs). It has been described only once in the literature, in two male sibs from Kuwaiti first-cousins. The clinical and radiological features of these patients were reported as a distinct cardioskeletal syndrome. heart defect and limb shortening syndrome cardioskeletal syndrome kuwaiti type cardioskeletal syndrome, KUWAITI type heart defects and limb shortening heart defects-limb shortening syndrome https://rarediseases.info.nih.gov/diseases/2613/cardioskeletal-syndrome-kuwaiti-type MONDO:0008918 Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy. CACT deficiency carnitine-acylcarnitine translocase deficiency CACTD CARNITINE-acylcarnitine translocase deficiency Cact deficiency carnitine-acylcarnitine translocase deficiency https://rarediseases.info.nih.gov/diseases/1123/carnitine-acylcarnitine-translocase-deficiency MONDO:0008919 Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma. CDSP Carnitine deficiency Carnitine transporter defect Carnitine uptake deficiency SPCD carnitine transporter deficiency carnitine uptake defect cud deficiency of plasma-membrane carnitine transporter primary carnitine deficiency renal carnitine transport defect systemic primary carnitine deficiency disease CARNITINE deficiency, systemic primary Carnitine deficiency, primary Carnitine deficiency, systemic, due to defect in renal reabsorption of Carnitine Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine Carnitine plasma-membrane transporter deficiency Carnitine transporter, plasma-Membrane, deficiency of Carnitine uptake defect systemic Carnitine deficiency systemic primary carnitine deficiency systemic primary carnitine deficiency disease MONDO:0008920 carnitine deficiency, myopathic myopathic carnitine deficiency carnitine deficiency, myopathic https://rarediseases.info.nih.gov/diseases/6616/myopathic-carnitine-deficiency MONDO:0008921 Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency. https://github.com/monarch-initiative/mondo/issues/4985 Carnosinase deficiency carnosinemia homocarnosinosis carnosinemia MONDO:0008922 Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. Sengers syndrome mitochondrial DNA depletion syndrome 10 cardiomyopathic mitochondrial DNA depletion syndrome 10 cardiomyopathy and cataract cataract and cardiomyopathy congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome mitochondrial DNA depletion syndrome 10 (Cardiomyopathic type) Sengers syndrome https://rarediseases.info.nih.gov/diseases/1142/sengers-syndrome MONDO:0008923 Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum. PPK-CA, Wallis type autosomal recessive palmoplantar hyperkeratosis and congenital alopecia cataract-alopecia-sclerodactyly syndrome palmoplantar keratoderma and congenital alopecia type 2 palmoplantar keratoderma and congenital alopecia, Wallis type PPKCA2 Ppkca, Wallis type cass cataract, alopecia, sclerodactyly cataract, alopecia, sclerodactyly syndrome palmoplantar keratoderma and congenital alopecia 2 autosomal recessive palmoplantar keratoderma and congenital alopecia https://rarediseases.info.nih.gov/diseases/1139/autosomal-recessive-palmoplantar-keratoderma-and-congenital-alopecia MONDO:0008924 Congenital cataract-ichthyosis syndrome is characterized by congenital cataract associated with ichthyosis. It has been described in less than ten patients from two unrelated families. Transmission is autosomal recessive. Syndermotic cataract and congenital ichthyosis cataract and congenital ichthyosis congenital cataract-ichthyosis syndrome MONDO:0008925 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LEMD2 gene. CTRCT46 LEMD2 early-onset non-syndromic cataract early-onset non-syndromic cataract caused by mutation in LEMD2 juvenilae cataract Hutterite type cataract 46, juvenile-onset cataract Hutterite type cataract, congenital or juvenile cataract, juvenile, Hutterite type Not in the OMIM series. cataract 46 juvenile-onset https://rarediseases.info.nih.gov/diseases/1150/cataract-hutterite-type MONDO:0008926 Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement. COFS Pena-Shokeir syndrome type 2 cerebro-oculo-facio-skeletal syndrome cerebrooculofacioskeletal syndrome COFS syndrome MONDO:0008927 A rare genetic eye disease characterized by optic disc anomalies (bilateral colobomatous optic discs, retinal vessels arising from the peripheral optic disc) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity. ODRMD optic DISC anomalies with retinal and/or macular dystrophy colobomatous optic disc-macular atrophy-chorioretinopathy syndrome MONDO:0008928 Cataract-ataxia-deafness syndrome is characterised by mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive. Begeer syndrome cataract ataxia deafness cataract ataxia deafness syndrome cataract-ataxia-deafness-retardation syndrome polyneuropathy, cataract, deafness syndrome polyneuropathy-cataract-deafness syndrome cataract-ataxia-deafness syndrome MONDO:0008930 https://github.com/monarch-initiative/mondo/issues/4521 celiac disease, susceptibility to celiac disease, susceptibility to, 1 celiac disease, susceptibility to, type 1 CELIAC1 celiac sprue, susceptibility to, 1 gluten-sensitive enteropathy, susceptibility to, 1 susceptibility to celiac disease 1 celiac disease, susceptibility to, 1 MONDO:0008931 Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs. https://github.com/monarch-initiative/mondo/issues/4948 Cenani syndactyly Cenani-Lenz syndactyly Cenani-Lenz syndactyly syndrome syndactyly type 7 CLSS Cenani syndactylism Cenani-Lenz syndrome Cenani-Lenz type syndactyly syndactyly Cenani Lenz type syndactyly, type 7 Cenani-Lenz syndactyly syndrome MONDO:0008932 PCD premature centromere division X-chromosome centromere peculiarity premature centromere division MONDO:0008933 cephalin lipidosis cephalin lipidosis MONDO:0008934 Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy. cerebellar ataxia - ectodermal dysplasia cerebellar ataxia and ectodermal dysplasia cerebellar ataxia ectodermal dysplasia ectodermal dysplasia and cerebellar ataxia cerebellar ataxia-ectodermal dysplasia syndrome MONDO:0008935 Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome. Gordon-Holmes syndrome luteinizing hormone-releasing hormone deficiency with ataxia GDHS Gordon Holmes syndrome LHRH deficiency and ataxia cerebellar ataxia - hypogonadism cerebellar ataxia and hypogonadotropic hypogonadism luteinizing hormone releasing hormone, deficiency of with ataxia luteinizing hormone-releasing hormone, deficiency of, with ataxia cerebellar ataxia-hypogonadism syndrome MONDO:0008936 cerebellar ataxia and neurosensory deafness cerebellar ataxia and neurosensory deafness MONDO:0008937 cerebellar ataxia, benign, with thermoanalgesia cerebellar ataxia with loss of pain and temperature sensation cerebellar ataxia, benign, with thermoanalgesia MONDO:0008938 Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss. EOCA EOCARR Harding ataxia ataxia, harding type cerebellar ataxia early onset with retained tendon reflex cerebellar ataxia, early-onset, with retained tendon reflexes early-onset cerebellar ataxia with retained tendon reflexes MONDO:0008939 Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures. https://github.com/monarch-initiative/mondo/issues/4521 Chiari 4 malformation Chiari IV malformation cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay congenital cerebellar Hypoplasia near total absence of cerebellum subtotal absence of cerebellum cerebellar hypoplasia isolated cerebellar agenesis isolated cerebellar hypoplasia/agenesis MONDO:0008941 A rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987. https://github.com/monarch-initiative/mondo/issues/5588 Thompson Baraitser syndrome Thompson-Baraitser syndrome cerebellar vermis aplasia with associated features suggesting SMITH-Lemli-Opitz syndrome and Meckel syndrome hepatic fibrosis-renal cysts-intellectual disability syndrome MONDO:0008943 The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training. PMPCA autosomal recessive congenital cerebellar ataxia SCAR2 autosomal recessive congenital cerebellar ataxia caused by mutation in PMPCA autosomal recessive spinocerebellar ataxia type 2 CPD 3 CPD3 CPDIII autosomal recessive cerebelloparenchymal disorder type 3 cerebellar granular cell hypoplasia and intellectual disability, congenital cerebellar granular cell hypoplasia and mental retardation, congenital cerebellar hypoplasia, nonprogressive Norman type cerebelloparenchymal disorder 3 spinocerebellar ataxia, autosomal recessive 2 autosomal recessive spinocerebellar ataxia 2 MONDO:0008944 Any Joubert syndrome in which the cause of the disease is a mutation in the INPP5E gene. CORS1 CPD4 INPP5E Joubert syndrome JBTS1 Joubert syndrome 1 Joubert syndrome caused by mutation in INPP5E Joubert syndrome type 1 cerebellooculorenal syndrome 1 Cerebellooculorenal syndrome 1 Joubert syndrome Joubert-Boltshauser syndrome cerebelloparenchymal disorder 4 Joubert syndrome 1 MONDO:0008945 A condition marked by progressive cerebellar ataxia combined with myoclonus usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal seizures, spasticity, and dyskinesias. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the cerebellum are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1) https://github.com/monarch-initiative/mondo/issues/4429 cerebelloparenchymal disorder type 5 dyssynergia cerebellaris myoclonica myoclonus and ataxia progressive cerebellar tremor CPD5 Ramsay Hunt cerebellar syndrome Ramsay Hunt syndrome Ramsay Hunt syndrome type 1 Ramsay Hunt syndrome type 1 (formerly) Spinodentate atrophy cerebelloparenchymal disorder 5 cerebelloparenchymal disorder V dentate cerebellar ataxia dentatorubral atrophy dyssynergia cerebellaris myoclonica of Hunt dyssynergia cerebellaris progressiva primary dentatum atrophy progressive myoclonus ataxia myoclonic cerebellar dyssynergia MONDO:0008946 cerebral angiopathy, dysphoric cerebral angiopathy, dysphoric MONDO:0008947 A basal ganglia disease characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration. BSPDC PFBC basal ganglia calcification basal ganglia degeneration with calcification cerebrovascular ferrocalcinosis idiopathic basal ganglia calcification primary familial brain calcification Fahr disease basal ganglia calcification, idiopathic Encompasses a range of disorders with different etiology, see https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-016-0693-1 bilateral striopallidodentate calcinosis MONDO:0008948 Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction. CTx cerebrotendinous xanthomatosis cholestanol storage disease sterol 27-hydroxylase deficiency cerebral cholesterinosis cerebrotendinous xanthomatosis https://rarediseases.info.nih.gov/diseases/5622/cerebrotendinous-xanthomatosis MONDO:0008949 cerebral malformation, seizures, hypertrichosis, and overlapping fingers Muller Barth Menger syndrome cerebral malformation, seizures, hypertrichosis, and overlapping fingers MONDO:0008950 cerebral sclerosis similar to Pelizaeus-Merzbacher disease cerebral sclerosis similar to Pelizaeus-Merzbacher disease https://rarediseases.info.nih.gov/diseases/7348/cerebral-sclerosis-similar-to-pelizaeus-merzbacher-disease MONDO:0008951 cerebrocortical degeneration of infancy cerebrocortical degeneration of infancy MONDO:0008953 https://github.com/monarch-initiative/mondo/issues/2632 peroxisome biogenesis disorder 1A (Zellweger) Cerebrohepatorenal syndrome PBD1A Zs peroxisome biogenesis disorder, complementation group 1 peroxisome biogenesis disorder, complementation group E peroxisome biogenesis disorder 1A (Zellweger) MONDO:0008954 https://github.com/monarch-initiative/mondo/issues/2632 peroxisome biogenesis disorder 2A (Zellweger) PBD2A peroxisome biogenesis disorder, complementation group 2 peroxisome biogenesis disorder 2A (Zellweger) MONDO:0008955 Any COFS syndrome in which the cause of the disease is a mutation in the ERCC6 gene. COFS syndrome COFS syndrome caused by mutation in ERCC6 COFS1 ERCC6 COFS syndrome cerebrooculofacioskeletal syndrome 1 cerebrooculofacioskeletal syndrome type 1 Pena-Shokeir syndrome, type 2 cerebrooculofacioskeletal syndrome 1 MONDO:0008957 cervical vertebrae, agenesis of cervical vertebrae, agenesis of MONDO:0008958 Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the MEOX1 gene. https://github.com/monarch-initiative/mondo/issues/4948 Klippel-Feil syndrome 2, autosomal recessive MEOX1 isolated Klippel-Feil syndrome isolated Klippel-Feil syndrome caused by mutation in MEOX1 KFS2 Kfs, autosomal recessive Klippel-FEIL syndrome 2, autosomal recessive cervical vertebral fusion, autosomal recessive Klippel-Feil syndrome 2, autosomal recessive MONDO:0008959 CHAND syndrome CHANDS curly hair-ankyloblepharon-nail dysplasia syndrome CHAND syndrome MONDO:0008960 A rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease. https://github.com/monarch-initiative/mondo/issues/551 https://github.com/monarch-initiative/mondo/issues/5588 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers Charcot-Marie-tooth disease-deafness-intellectual disability syndrome Charcot-Marie-Tooth disease and deafness deafness with Charcot-Marie-Tooth disease neuropathy, hereditary motor and sensory, with deafness, intellectual disability, and absent sensory large myelinated fibers neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome MONDO:0008961 Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities. CMT4A Charcot-Marie-Tooth disease type 4 caused by mutation in GDAP1 Charcot-Marie-Tooth neuropathy type 4A GDAP1 Charcot-Marie-Tooth disease type 4 autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A Charcot Marie Tooth disease type 4A Charcot-Marie-Tooth disease, demyelinating, autosomal recessive Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4A Charcot-Marie-Tooth disease, type 4A Charcot-Marie-Tooth neuropathy, type 4A Charcot-Marie-Tooth disease type 4A https://rarediseases.info.nih.gov/diseases/1252/charcot-marie-tooth-disease-type-4a MONDO:0008962 A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has material basis in mutations in the MYO5A gene on chromosome 15q21.2. GS1 Griscelli syndrome type 1 Griscelli syndrome with neurological impairment Griscelli syndrome, cutaneous and neurological type Griscelli-PruniC)ras syndrome type 1 Griscelli-Pruniéras syndrome type 1 hypopigmentation-neurologic impairment syndrome Griscelli disease type 1 Griscelli syndrome with neurologic impairment Griscelli syndrome, cutaneous and neurologic type Griscelli syndrome, type 1 partial albinism and primary neurologic disease without hemophagocytic syndrome pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts Griscelli syndrome type 1 https://rarediseases.info.nih.gov/diseases/2566/griscelli-syndrome-type-1 MONDO:0008963 ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described. CHS ChC)diak-Higashi disease ChC)diak-Higashi-Steinbrink syndrome Chediak - Steinbrinck anomaly Chediak-Higashi syndrome Chédiak-Higashi disease Chédiak-Higashi-Steinbrink syndrome Chediak Higashi syndrome Chédiak-Higashi syndrome Chediak-Higashi syndrome https://rarediseases.info.nih.gov/diseases/6035/chediak-higashi-syndrome MONDO:0008964 Any secretory diarrhea in which the cause of the disease is a mutation in the SLC26A3 gene. SLC26A3 secretory diarrhea congenital chloride diarrhea Finnish type congenital chloridorrhea congenital secretory chloride diarrhea type 1 secretory diarrhea caused by mutation in SLC26A3 CLD Chloridorrhea, congenital DIAR1 Darrow-gamble disease chloride diarrhea, congenital, Finnish type congenital chloride diarrhea diarrhea 1, secretory chloride, congenital familial chloride diarrhea congenital secretory chloride diarrhea 1 MONDO:0008965 CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's). CHARGE association CHARGE syndrome Hall-Hittner syndrome coloboma, heart defects, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear anomalies association coloboma, heart malformation, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear malformations (CHARGE) association coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome Charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and Ear anomalies coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies CHARGE syndrome MONDO:0008966 Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life. Aagenaes syndrome cholestasis-edema syndrome, Norwegian type Chls LCS LCS1 cholestasis lymphedema syndrome cholestasis-lymphedema syndrome lymphedema cholestasis syndrome lymphedema-cholestasis syndrome Aagenaes syndrome https://rarediseases.info.nih.gov/diseases/370/aagenaes-syndrome MONDO:0008967 An anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease. https://github.com/monarch-initiative/mondo/issues/1196 https://github.com/monarch-initiative/mondo/issues/2632 https://github.com/monarch-initiative/mondo/issues/4069 AMACR deficiency 2-methylacyl-CoA racemase deficiency Alpha-methyl-acyl-CoA racemase deficiency BAS defect type 4 BASD4 CBAS4 bile acid synthesis defect, congenital, type 4 congenital bile acid synthesis defect 4 congenital bile acid synthesis defect type 4 intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome trihydroxycoprostanic acid in bile Trihydroxycoprostanic acid in bile Trihydroxycoprostanic acid to cholic acid bile acid synthesis defect, congenital, 4 cholestasis, intrahepatic, with defective conversion of cholestasis, intrahepatic, with defective conversion of Trihydroxycoprostanic acid to cholic acid congenital bile acid synthesis defect 4 https://rarediseases.info.nih.gov/diseases/10046/bile-acid-synthesis-defect-congenital-4 MONDO:0008968 cholestasis with gallstone, ataxia, and visual disturbance cholestasis with gallstone, ataxia, and visual disturbance MONDO:0008969 cholesterol pneumonia familiaere cholesterin-Pneumonie cholesterol pneumonia https://rarediseases.info.nih.gov/diseases/8500/cholesterol-pneumonia MONDO:0008970 Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality. https://github.com/monarch-initiative/mondo/issues/4948 BLC BOCD Blomstrand chondrodysplasia Blomstrand lethal chondrodysplasia Blomstrand osteochondrodysplasia Blomstrand type chondrodysplasia chondrodysplasia, Blomstrand type Blomstrand lethal osteochondrodysplasia Blomstrand's lethal chondrodysplasia chondrodysplasia Blomstrand type https://rarediseases.info.nih.gov/diseases/914/chondrodysplasia-blomstrand-type MONDO:0008971 chondrodysplasia calcificans Metaphysealis chondrodysplasia calcificans Metaphysealis https://rarediseases.info.nih.gov/diseases/10613/chondrodysplasia-calcificans-metaphysealis MONDO:0008972 A condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern. Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have similar features and are distinguished by their genetic cause. https://github.com/monarch-initiative/mondo/issues/2632 https://github.com/monarch-initiative/mondo/issues/4948 PEX7 rhizomelic chondrodysplasia punctata Pbd9 Rcdp1 peroxisome biogenesis disorder 9 rhizomelic chondrodysplasia punctata caused by mutation in PEX7 rhizomelic chondrodysplasia punctata type 1 rhizomelic chondrodysplasia punctata, type 1 RCDP1 chondrodysplasia punctata, rhizomelic form chondrodystrophia calcificans punctata rhizomelic chondrodysplasia punctata type 1 https://rarediseases.info.nih.gov/diseases/6049/rhizomelic-chondrodysplasia-punctata-type-1 MONDO:0008973 Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported. Toriello-Higgins-Miller syndrome chondrodysplasia punctata syndrome chondrodysplasia punctata, Toriello type MONDO:0008974 A very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable. https://github.com/monarch-initiative/mondo/issues/4948 Greenberg dysplasia hem dysplasia hydrops-ectopic calcification-motheaten syndrome skeletal dysplasia, Greenberg type GRBGD Greenberg skeletal dysplasia autosomal recessive lethal chondrodystrophy with congenital hydrops chondrodystrophy, hydropic and prenatally lethal type hem hem skeletal dysplasia hem/Greenberg dysplasia hydrops, ectopic calcification, moth-eaten skeletal dysplasia hydrops-ectopic calcification-moth-eaten skeletal dysplasia moth-eaten skeletal dysplasia Greenberg dysplasia https://rarediseases.info.nih.gov/diseases/8754/greenberg-dysplasia MONDO:0008975 An inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies. Nance-Insley syndrome Nance-Sweeney chondrodysplasia OSMED chondrodystrophy with sensorineural deafness otospondylmegaepiphyseal dysplasia otospondylomegaepiphyseal dysplasia Insley-Astley syndrome Nance Sweeney chondrodysplasia OSMED syndrome oto-spondylo-mega-epiphyseal dysplasia otospondylomegaepiphyseal dysplasia MONDO:0008976 chondroitin-6-Sulfaturia, defective cellular immunity, nephrotic syndrome chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome MONDO:0008977 A malignant cartilaginous matrix-producing mesenchymal neoplasm arising from the bone and soft tissue. It usually affects middle-aged to elderly adults. The pelvic bones, ribs, shoulder girdle, and long bones are the most common sites of involvement. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion. https://github.com/monarch-initiative/mondo/issues/4521 chondrosarcoma (disease) chondrosarcoma chondrosarcoma (disease) chondrosarcoma, malignant chondrosarcoma, somatic mutation chondrosarcoma of bone primary chondrosarcoma of the bone chondrosarcoma MONDO:0008978 Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton. chordoma (disease) chordoma chordoma (disease) chordoma, malignant notochordal sarcoma notochordoma CHDM chordoma, susceptibility to susceptibility to chordoma chordoma MONDO:0008979 Benign hereditary chorea (BHC) is a rare movement disorder that beginsin infancy or childhood. Signs and symptoms in infants may include low muscle tone, involuntary movements (chorea), lung infections, and respiratory distress. Signs and symptoms in children may include delayed motor and walking milestones, jerky muscle movements (myoclonus), upper limb dystonia, motor tics, and vocal tics. The chorea often improves with time. In some cases, myoclonus persists or worsens. Children with BHC can havenormal intellect, but may have learning and behavior problems. Other signs and symptoms include thyroid problems (e.g., hypothyroidism) and lung disease (e.g., recurring infections). Treatment is tailored to each child. Tetrabenazine and levodopa have been tried in individual cases with some success. BHC is caused by mutations in the NKX2-1 gene (also known as the TITF1 gene). It is passed through families in an autosomal dominant fashion. chorea, benign familial benign hereditary chorea chorea familial benign chorea, benign familial https://rarediseases.info.nih.gov/diseases/1305/benign-hereditary-chorea MONDO:0008980 Ataxia-hypogonadism-choroidal dystrophy syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome. BNHS Boucher-Neuhauser syndrome Boucher-Neuhchäuser syndrome Boucher-Neuhäuser syndrome chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy ataxia - hypogonadism - choroidal dystrophy ataxia-hypogonadism-choroidal dystrophy syndrome MONDO:0008981 This syndrome is characterized by intellectual deficit, calcification of the choroid plexus, and elevated levels of cerebrospinal fluid (CSF) protein. It has been described in two sibships from two unrelated families. The seven children of one of the sibships were born to consanguineous parents. Some patients also had strabismus, hyperactive deep tendon reflexes and foot deformities. https://github.com/monarch-initiative/mondo/issues/5588 Choroido-cerebral calcification syndrome with retardation choroid plexus calcification and intellectual disability choroid plexus calcification and mental retardation choroid plexus calcification with intellectual disability choroid plexus calcification with mental retardation infantile choroidocerebral calcification syndrome MONDO:0008982 A hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity. CACD areolar atrophy of the macula central areolar choroidal sclerosis choroidal dystrophy CACD1 choroidal dystrophy central areolar choroidal dystrophy, central areolar, 1 central areolar choroidal dystrophy MONDO:0008983 chromosomal instability with tissue-specific radiosensitivity chromosomal instability with tissue-specific radiosensitivity MONDO:0008984 ciliary discoordination due to random ciliary orientation Rutland ciliary disorientation syndrome ciliary discoordination, due to random ciliary orientation ciliary discoordination due to random ciliary orientation https://rarediseases.info.nih.gov/diseases/1360/ciliary-discoordination-due-to-random-ciliary-orientation MONDO:0008985 ciliary dyskinesia with transposition of ciliary microtubules ciliary dyskinesia, due to transposition of ciliary microtubules ciliary dyskinesia with transposition of ciliary microtubules MONDO:0008986 circumvallate placenta syndrome circumvallate placenta syndrome MONDO:0008988 Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I) and by variable hyperammonemia in the later-onset form (adult-onset citrullinemia type I). https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4985 citrullinemia ASS deficiency CTLN1 argininosuccinate synthase deficiency argininosuccinate synthetase deficiency argininosuccinic acid synthase deficiency argininosuccinic acid synthetase deficiency citrullinemia type 1 citrullinemia type I classic citrullinemia CTNL1 Citrullinuria citrullinemia 1 citrullinemia, classic citrullinemia, type 1 citrullinemia type I MONDO:0008989 citrulline transport defect citrulline transport defect https://rarediseases.info.nih.gov/diseases/9949/citrulline-transport-defect MONDO:0008990 cleft larynx, posterior Novak syndrome laryngotracheoesophageal cleft pulmonary hypoplasia stridor, congenital cleft larynx, posterior MONDO:0008991 Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981. cleft lip-limb and heart malformations syndrome cleft-limb-heart malformation syndrome syndrome Clh syndrome Verloove Vanhorick Brubakk syndrome cleft limb heart malformation syndrome cleft-limb-heart malformation syndrome Verloove Vanhorick-Brubakk syndrome https://rarediseases.info.nih.gov/diseases/5482/verloove-vanhorick-brubakk-syndrome MONDO:0008992 Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit. Juberg-Hayward syndrome Orocraniodigital syndrome cleft lip/palate-abnormal thumbs-microcephaly syndrome JHS cleft LIP/palate with abnormal thumbs and microcephaly Juberg-Hayward syndrome https://rarediseases.info.nih.gov/diseases/3060/juberg-hayward-syndrome MONDO:0008993 Cleft palate - stapes fixation - oligodontia is characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971. cleft palate stapes fixation oligodontia cleft palate, deafness, and oligodontia cleft palate-stapes fixation-oligodontia syndrome https://rarediseases.info.nih.gov/diseases/1393/cleft-palate-stapes-fixation-oligodontia MONDO:0008994 cleidocranial dysplasia, recessive form autosomal recessive form of cleidocranial dysostosis cleidocranial dysplasia recessive form cleidocranial dysplasia, recessive form https://rarediseases.info.nih.gov/diseases/10623/cleidocranial-dysplasia-recessive-form MONDO:0008995 Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects, skeletal abnormalities, developmental delay, and/or intellectual disability. Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and isinherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person. Yunis-Varon syndrome cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia cleidocranial dysplasia-micrognathia-absent thumbs syndrome YVS Yunis Varon syndrome Yunis-Varón syndrome cleidocranial dysplasia with micrognathia, absent thumbs, and distal Aphalangia cleidocranial dysplasia, micrognathia, absent thumbs, & distal aphalangia Yunis-Varon syndrome https://rarediseases.info.nih.gov/diseases/331/yunis-varon-syndrome MONDO:0008998 Cockayne syndrome type III, also known as the mild form of Cockayne syndrome, is a rare genetic disorder that causes early (premature) aging. Unlike the more severe forms of this condition, individuals with Cockayne syndrome type III can have normal growth and development. Symptoms may include sunlight sensitivity (photosensitivity), hearing loss, eye and bone abnormalities, and changes to the brain that can be seen on imaging (brain MRIs). In general, symptoms of Cockayne syndrome type III are usually not noticeable until later in childhood. Cockayne syndrome type 3 Cockayne syndrome type III Cockayne syndrome type C Cockayne syndrome, type III Editor note: this is obsolete in OMIM but is still a valid class in Orphanet. No info in GHR Cockayne syndrome type 3 https://rarediseases.info.nih.gov/diseases/1417/cockayne-syndrome-type-iii MONDO:0008999 Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity. https://github.com/monarch-initiative/mondo/issues/5588 Cohen syndrome cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness COH1 Chs1 Chs1, formerly Coh hypotonia, obesity, and prominent incisors pepper syndrome Cohen syndrome https://rarediseases.info.nih.gov/diseases/6126/cohen-syndrome MONDO:0009000 Familial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules. RPC collagenosis, familial reactive perforating inherited reactive perforating collagenosis familial reactive perforating collagenosis https://rarediseases.info.nih.gov/diseases/13331/familial-reactive-perforating-collagenosis MONDO:0009001 Macular coloboma-cleft palate-hallux valgus syndrome is characterised by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive. coloboma of macula and skeletal anomalies macular coloboma-cleft palate-hallux valgus syndrome MONDO:0009002 coloboma, ocular, autosomal recessive coloboma, ocular, autosomal recessive MONDO:0009003 Achromatopsia 2 is a condition that affects the color vision. Most people have complete achromatopsia which is characterized by a total absence of color vision (only able to see black, white and shades of gray). Rarely, affected people may have incomplete achromatopsia which is associated with some color discrimination. Other common signs and symptoms include reduced visual acuity, involuntary back-and-forth eye movements, increased sensitivity to light (photophobia), and hyperopia (farsightedness). Achromatopsia 2 is caused by changes (mutations) in the CNGA3 gene and is inherited in an autosomal recessive manner. Although color discrimination cannot be improved, treatments are available to address some of the other associated symptoms. https://github.com/monarch-initiative/mondo/issues/4937 ACHM2 CNGA3 achromatopsia RMCH2 achromatopsia 2 achromatopsia caused by mutation in CNGA3 achromatopsia type 2 rod monochromacy 2 rod monochromatism 2 Rod monochromacy 2 Rod monochromatism 2 colorblindness, total achromatopsia 2 https://rarediseases.info.nih.gov/diseases/9649/achromatopsia-2 MONDO:0009005 Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae. complement component C1r/C1s deficiency C1r/C1s deficiency complement component C1r/C1s deficiency MONDO:0009006 Complement component 2 deficiency (C2D) is a genetic condition that affects the immune system. Signs and symptoms include recurrent bacterial infections and risk for a variety of autoimmune conditions. Infections can be very serious and are common in early life. They become less frequent during the teen and adult years. The most frequent autoimmune conditions associated with C2D are lupus (10-20%) and vasculitis. C2D is caused by mutations in the C2 gene and is inherited in an autosomal recessive fashion. C2 complement deficiency complement component 2 deficiency complement deficiency caused by mutation in C2 C2 deficiency C2D complement component 2 deficiency https://rarediseases.info.nih.gov/diseases/1452/complement-component-2-deficiency MONDO:0009007 Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI) and cone-rod retinal dystrophy (CORD). Jalili syndrome cone rod dystrophy-amelogenesis imperfecta syndrome cone-rod dystrophy amelogenesis imperfecta cone-rod dystrophy and amelogenesis imperfecta cone-rod dystrophy with amelogenesis imperfecta Jalili syndrome https://rarediseases.info.nih.gov/diseases/1463/cone-rod-dystrophy-amelogenesis-imperfecta MONDO:0009008 Ostravik-Lindemann-Solberg syndrome heart defect - tongue hamartoma - polysyndactyly syndrome CHDTHP Orstavik Lindemann Solberg syndrome congenital heart defects, hamartomas of tongue, and polysyndactyly heart defect, tongue hamartoma and polysyndactyly heart defect - tongue hamartoma - polysyndactyly syndrome MONDO:0009009 Severe hypoplasminogenemia (HPG) or type 1 plasminogen (plg) deficiency is a systemic disease characterised by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae during wound healing. hypoplasminogenemia plasminogen deficiency type 1 Dysplasminogenemia ligneous conjunctivitis plasminogen deficiency, type 1 plasminogen deficiency, type 2 plasminogen deficiency, type I type 1 plasminogen deficiency hypoplasminogenemia MONDO:0009010 Aortic arch interruption is a rare heart defect characterized by complete lack of anatomical continuity between the transverse aortic arch and the descending thoracic aorta. AAI should be distinguished anatomically from atresia of the aortic arch where continuity between these segments is achieved by an imperforate fibrous strand of various lengths. aortic arch interruption https://rarediseases.info.nih.gov/diseases/740/aortic-arch-interruption MONDO:0009012 Malignant hyperthermia-arthrogryposis-torticollisis an extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988. froster-Iskenius-Waterson-Hall syndrome malignant hyperthermia-arthrogryposis-torticollis syndrome contractures, congenital, torticollis, and malignant hyperthermia froster-Iskenius-Waterson syndrome malignant hyperthermia - arthrogryposis - torticollis malignant hyperthermia arthrogryposis torticollis multiple pterygium-malignant hyperthermia syndrome https://rarediseases.info.nih.gov/diseases/3361/malignant-hyperthermia-arthrogryposis-torticollis MONDO:0009013 convulsive disorder, familial, with prenatal or early onset convulsive disorder, familial, with prenatal or early onset MONDO:0009014 Any cornea plana in which the cause of the disease is a mutation in the KERA gene. KERA cornea plana cornea plana 2 cornea plana caused by mutation in KERA cornea plana type 2 CNA2 cornea plana 2, autosomal recessive cornea plana 2 MONDO:0009015 Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED) with progressive, postlingual sensorineural hearing loss. https://github.com/monarch-initiative/mondo/issues/4521 CDPD Harboyan syndrome corneal dystrophy with progressive deafness corneal endothelial dystrophy and perceptive deafness Cdpd1 congenital corneal dystrophy, progressive sensorineural deafness corneal dystrophy and perceptive deafness corneal dystrophy and sensorineural deafness corneal dystrophy-perceptive deafness syndrome MONDO:0009016 The deposition of calcium on the cornea, resulting in pain and decreased visual acuity. band keratopathy band-shaped keratopathy corneal dystrophy, band-SHAPED band keratopathy MONDO:0009017 corneal degeneration, band-shaped spheroid corneal degeneration, band-shaped spheroid MONDO:0009018 Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision. CCDF central cloudy corneal dystrophy of François central cloudy dystrophy of Francois central cloudy dystrophy of François corneal dystrophy, central type central cloudy dystrophy of François MONDO:0009019 A rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision. https://github.com/monarch-initiative/mondo/issues/1368 https://github.com/monarch-initiative/mondo/issues/4521 CHED CHED2 CHEDII autosomal recessive CHED autosomal recessive congenital hereditary endothelial dystrophy congenital hereditary endothelial dystrophy of cornea congenital hereditary endothelial dystrophy type 2 corneal endothelial dystrophy, autosomal recessive infantile hereditary endothelial dystrophy CHED2, formerly congenital hereditary endothelial dystrophy of the cornea congenital hereditary endothelial dystrophy type II corneal dystrophy, congenital hereditary endothelial corneal endothelial dystrophy corneal endothelial dystrophy 2 corneal endothelial dystrophy 2, autosomal recessive corneal endothelial dystrophy 2, autosomal recessive, formerly corneal endothelial dystrophy type 2 congenital hereditary endothelial dystrophy of cornea https://rarediseases.info.nih.gov/diseases/6196/corneal-endothelial-dystrophy-type-2 MONDO:0009020 Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment. Fehr corneal dystrophy MCD corneal dystrophy Groenouw type II macular corneal dystrophy macular dystrophy, corneal, 1 Groenouw type 2 corneal dystrophy Groenouw type II corneal dystrophy Mcdc1 Mcdc1, formerly corneal dystrophy, macular type macular corneal dystrophy type 1 macular corneal dystrophy, type 1 macular corneal dystrophy, type 2 macular dystrophy, corneal macular dystrophy, corneal type 1 macular corneal dystrophy MONDO:0009021 Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia. Toriello-Carey syndrome corpus callosum agenesis-blepharophimosis-Robin sequence syndrome agenesis of corpus callosum with facial anomalies and Robin sequence corpus callosum agenesis facial anomalies Robin sequence corpus callosum, agenesis of, with facial anomalies and ROBIN sequence Toriello-Carey syndrome https://rarediseases.info.nih.gov/diseases/5225/toriello-carey-syndrome MONDO:0009022 A congenital abnormality characterized by the complete absence of the corpus callosum. It may be an isolated abnormality or associated with other central nervous system abnormalities or syndromes. Clinical manifestations vary. In cases of isolated corpus callosum agenesis, symptoms may be absent or minimal. In cases that are associated with other central nervous system abnormalities or syndromes, symptoms include developmental delays, motor coordination difficulties, and vision impairment. agenesis of corpus callosum corpus callosum agenesis corpus callosum, agenesis of ACC agenesis of the corpus callosum isolated corpus callosum agenesis corpus callosum, agenesis of MONDO:0009024 This syndrome is characterised by cortical blindness, intellectual deficit, and polydactyly. https://github.com/monarch-initiative/mondo/issues/5588 cortical blindness, retardation, and postaxial polydactyly cortical blindness-intellectual disability-polydactyly syndrome https://rarediseases.info.nih.gov/diseases/1548/cortical-blindness-intellectual-disability-polydactyly-syndrome MONDO:0009025 Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism. https://github.com/monarch-initiative/mondo/issues/4993 11 Beta-hydroxysteroid dehydrogenase type 2 deficiency 11-beta-hydroxysteroid dehydrogenase deficiency type 2 APE Ulick syndrome apparent mineralocorticoid excess apparent mineralocorticoid excess syndrome cortisol 11-beta-ketoreductase deficiency syndrome of apparent mineralocorticoid Excess AME AME 1 Ame1 apparent mineralocorticoid EXCESS cortisol 11-Beta-ketoreductase deficiency apparent mineralocorticoid excess https://rarediseases.info.nih.gov/diseases/433/apparent-mineralocorticoid-excess MONDO:0009026 Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/5682 Costello syndrome FCS syndrome congenital myopathy with excess of muscle spindles faciocutaneoskeletal syndrome CSTLO myopathy, congenital, with excess of muscle spindles Costello syndrome https://rarediseases.info.nih.gov/diseases/1550/costello-syndrome MONDO:0009027 cramps, familial adolescent cramps, familial adolescent MONDO:0009028 A very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. Crane-Heise syndrome cleft Lip/palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus Crane-Heise syndrome https://rarediseases.info.nih.gov/diseases/8428/crane-heise-syndrome MONDO:0009029 https://github.com/monarch-initiative/mondo/issues/4069 cranial nerves, congenital paresis of cranial nerves, congenital paresis of MONDO:0009030 cranial nerves, recurrent paresis of cranial nerves, recurrent paresis of MONDO:0009031 Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity. Lionitis craniodiaphyseal dysplasia CDD craniodiaphyseal dysplasia https://rarediseases.info.nih.gov/diseases/1567/craniodiaphyseal-dysplasia MONDO:0009032 Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa). CED Levin syndrome Sensenbrenner syndrome cranioectodermal dysplasia cranioectodermal dysplasia MONDO:0009033 Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities. https://github.com/monarch-initiative/mondo/issues/5588 Temtamy-Shalash syndrome craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome temtamy syndrome Dysmorphism, corpus callosum agenesis and colobomas TEMTAMY syndrome TEMTYS craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation intellectual disability with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum mental retardation with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum temtamy syndrome https://rarediseases.info.nih.gov/diseases/5688/temtamy-syndrome MONDO:0009034 Craniofacial dyssynostosis (CFD) is a rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull and hydrocephalus. bilateral lambdoid and sagittal synostosis craniofacial dyssynostosis and short stature craniofacial dyssynostosis with short stature craniosynostosis-craniofacial dysostosis syndrome craniofacial dyssynostosis https://rarediseases.info.nih.gov/diseases/1575/craniofacial-dyssynostosis MONDO:0009035 Autosomal recessive form of craniometaphyseal dysplasia. https://github.com/monarch-initiative/mondo/issues/4948 autosomal recessive craniometaphyseal dysplasia craniometaphyseal dysplasia, autosomal recessive CMDR craniometaphyseal dysplasia, autosomal recessive type craniometaphyseal dysplasia, autosomal recessive MONDO:0009036 Pfeiffer-type cardiocranial syndrome is an extremely rare disorder recognized in less than ten patients worldwide and characterized by a congenital heart defect, sagittal craniosynostosis and severe developmental delay (growth retardation and intellectual deficit). https://github.com/monarch-initiative/mondo/issues/5588 Pfeiffer-Singer-Zschiesche syndrome craniosynostosis-congenital heart disease-intellectual disability syndrome sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis Cardiocranial syndrome Pfeiffer Cardiocranial syndrome Pfeiffer Singer Zschiesche syndrome Pfeiffer-type cardiocranial syndrome craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis cardiocranial syndrome, Pfeiffer type MONDO:0009037 craniosynostosis with anomalies of the cranial base and digits craniosynostosis with anomalies of the cranial base and digits MONDO:0009038 Craniosynostosis-fibular aplasia is an extremely rare genetic disease, reported in only 2 brothers to date, characterized by the combination of craniosynostosis (involving both coronal sutures), congenital absence of the fibula, cryptorchidism, and bilateral simian creases. Intelligence is normal and an autosomal recessive mode of inheritance has been proposed. There have been no further reports in the literature since 1972. Lowry syndrome craniosynostosis with fibular aplasia craniosynostosis-fibular aplasia syndrome MONDO:0009039 Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius). https://github.com/monarch-initiative/mondo/issues/4948 Baller-Gerold syndrome BALLER-Gerold syndrome BGS craniosynostosis with radial defects craniosynostosis-radial aplasia syndrome Baller-Gerold syndrome https://rarediseases.info.nih.gov/diseases/1602/baller-gerold-syndrome MONDO:0009040 Lin-Gettig syndrome craniosynostosis-intellectual disability syndrome of Lin and Gettig craniosynostosis-mental retardation syndrome of Lin and Gettig craniosynostosis-intellectual disability syndrome of 51N and Gettig MONDO:0009041 A recessive syndrome characterized by craniosynostosis, intellectual disability, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose. Baraitser Rodeck garner syndrome craniosynostosis-intellectual disability-clefting syndrome craniosynostosis-mental retardation-clefting syndrome craniosynostosis intellectual disability clefting syndrome craniosynostosis mental retardation clefting syndrome craniosynostosis, intellectual disability, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose craniosynostosis, mental retardation, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose craniosynostosis-intellectual disability-clefting syndrome MONDO:0009042 Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983. craniotelencephalic dysplasia Complex of anomalies involving the cranium and brain craniotelencephalic dysplasia https://rarediseases.info.nih.gov/diseases/1605/craniotelencephalic-dysplasia MONDO:0009043 A thyroid hormone resistance syndrome characterized by resistance in the pituitary gland and in most or all of the peripheral tissues. GRTH Refetoff syndrome deafness-thyroid hormone resistance syndrome generalized resistance to thyroid hormone MONDO:0009044 Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2. CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2. Crigler Najjar syndrome Crigler-Najjar syndrome UGT deficiency bilirubin UDP glucuronyl transferase deficiency bilirubin uridinediphosphate glucuronosyltransferase deficiency bilirubin-UGT deficiency hereditary unconjugated hyperbilirubinemia Crigler-Najjar syndrome MONDO:0009045 Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963. https://github.com/monarch-initiative/mondo/issues/5588 crome syndrome congenital cataracts, renal tubular necrosis and encephalopathy in two sisters cataract-nephropathy-encephalopathy syndrome MONDO:0009046 Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly. Fraser syndrome cryptophthalmos with other malformations cryptophthalmos-syndactyly syndrome Fraser-Francois syndrome Meyer-Schwickerath's syndrome Ulrich-Feichtiger syndrome cryptophthalmos syndrome cryptophthalmos with Other malformations cyclopism Fraser syndrome https://rarediseases.info.nih.gov/diseases/6465/fraser-syndrome MONDO:0009047 The failure of one or both testes of a male fetus to descend from the abdomen into the scrotum during the late part of pregnancy. If not surgically corrected in early childhood, males may be at increased risk for testicular cancer later in life. cryptorchidism (disease) cryptorchidism cryptorchidism (disease) cryptorchism undescended testes undescended testicle undescended testicles undescended testis cryptorchidism, unilateral or bilateral cryptorchidism MONDO:0009048 curved nail of fourth toe claw-like fingers and toes curved nail of fourth toe MONDO:0009049 A rare type of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS. ACTH-independent Cushing syndrome primary bilateral macronodular adrenal hyperplasia ACTH-independent macronodular adrenocortical hyperplasia AIMAH MMAD adrenocorticotropic hormone-independent macronodular adrenal hyperplasia corticotropin-independent macronodular adrenal hyperplasia massive macronodular adrenocortical disease primary macronodular adrenal hyperplasia Cushing syndrome due to macronodular adrenal hyperplasia https://rarediseases.info.nih.gov/diseases/10824/acth-independent-macronodular-adrenal-hyperplasia MONDO:0009050 Cushing's syndrome due to abnormally high secretion of adrenocorticotropic hormone (ACTH) from the pituitary gland. https://github.com/monarch-initiative/mondo/issues/4521 ACTH producing pituitary adenoma Cushing disease, pituitary PITA4 corticotroph pituitary adenoma pituitary adenoma 4, ACTH-secreting pituitary adenoma 4, ACTH-secreting, somatic pituitary adenoma, ACTH-secreting pituitary corticotroph micro-adenoma pituitary dependent Cushing syndrome pituitary-dependent Cushing syndrome ACTH-secreting pituitary adenoma Corticotropinoma Cushing disease Cushing's disease corticotroph adenoma Cushing disease due to pituitary adenoma https://rarediseases.info.nih.gov/diseases/12867/acth-secreting-pituitary-adenoma MONDO:0009051 Cutaneous photosensitivity and lethal colitisis is a rare inflammatory bowel disease characterized by early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurent colitis which lead to untreatable diarrhea. There have been no further descriptions in the literature since 1991. cutaneous photosensitivity and colitis, lethal early cutaneous photosensitivity and severe colitis cutaneous photosensitivity-lethal colitis syndrome MONDO:0009052 An autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32. ARCL1 ARCL1A autosomal recessive cutis laxa type IA cutis laxa, autosomal recessive cutis laxa, autosomal recessive, type IA cutis laxa, autosomal recessive, type 1A MONDO:0009053 ALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity. P5CS deficiency ARCL3A De Barsy syndrome A Delta-1-pyrroline 5-carboxylate synthetase deficiency neurocutaneous syndrome, Bicknell type De Barsy syndrome a autosomal recessive cutis laxa type IIIA cutis laxa, autosomal recessive, type 3A cutis laxa, autosomal recessive, type IIIA cutis laxa, corneal clouding, and intellectual disability cutis laxa, corneal clouding, and mental retardation progeroid syndrome of De Barsy ALDH18A1-related de Barsy syndrome MONDO:0009054 https://github.com/monarch-initiative/mondo/issues/5048 ARCL2, Debre type ARCL2, Debré type ARCL2, classic type autosomal recessive cutis laxa type 2, Debre type autosomal recessive cutis laxa type 2, Debré type ADCL2 ARCL2A Arcl2 autosomal recessive cutis laxa type II classic type autosomal recessive cutis laxa type 2, classic type MONDO:0009055 Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin. cutis marmorata telangiectatica congenita (disease) CMTC cutis marmorata telangiectatica congenita cutis marmorata telangiectatica congenita (disease) Van Lohuizen syndrome hereditary cutis marmorata telangiectatica congenita cutis marmorata telangiectatica congenita MONDO:0009056 cutis verticis gyrata and intellectual disability cutis verticis gyrata and mental retardation cutis verticis gyrata-intellectual disability syndrome CVG/MR cutis verticis gyrata and intellectual disability MONDO:0009057 cyanosis and hepatic disease cyanosis and hepatic disease MONDO:0009058 Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases. cystathioninuria (disease) Cystathione gamma-lyase deficiency syndrome cystathionase deficiency cystathione gamma-lyase deficiency syndrome cystathioninuria cystathioninuria (disease) gamma-cystathionase deficiency cystathioninuria MONDO:0009059 cysteine Peptiduria cysteine Peptiduria MONDO:0009060 cystic disease of lung cystic disease of lung MONDO:0009061 Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity. https://github.com/monarch-initiative/mondo/issues/4521 CF cystic fibrosis cystic fibrosis lung disease, modifier of mucoviscidosis pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis cystic fibrosis https://rarediseases.info.nih.gov/diseases/6233/cystic-fibrosis MONDO:0009062 A rare genetic disease reported in two siblings of consanguineous Arab parents and is characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991. Lubani-Al Saleh-Teebi syndrome Lubani Al Saleh Teebi syndrome cystic fibrosis gastritis megaloblastic anemia cystic fibrosis with Helicobacter pylori gastritis, megaloblastic anemia, and intellectual disability cystic fibrosis with Helicobacter pylori gastritis, megaloblastic anemia, and mental retardation cystic fibrosis, Helicobacter pylori gastritis, megaloblastic anemia, subnormal mentality and minor anomalies cystic fibrosis-gastritis-megaloblastic anemia syndrome MONDO:0009063 VMCKD congenital nephrosis-cerebral ventriculomegaly syndrome ventriculomegaly with cystic kidney disease ventriculomegaly-cystic kidney disease MONDO:0009064 Ocular cystinosis is the benign, adult form of cystinosis, a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations. https://github.com/monarch-initiative/mondo/issues/4985 adult-onset cystinosis non-nephropathic cystinosis ocular cystinosis cystinosis, ADULT NONNEPHROPATHIC cystinosis, benign Nonnephropathic cystinosis, ocular Nonnephropathic ocular cystinosis MONDO:0009066 Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4985 cystinosis, late-onset juvenile or adolescent nephropathic intermediate cystinosis juvenile cystinosis juvenile nephropathic cystinosis cystinosis, intermediate cystinosis, late-onset juvenile or adolescent nephropathic type juvenile nephropathic cystinosis MONDO:0009067 Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones. cystinuria (disease) cystinuria cystinuria (disease) cystinuria-lysinuria syndrome CSNU cystinuria, type A/B cystinuria, type B cystinuria, type I cystinuria, type I, formerly cystinuria, type II cystinuria, type II, formerly cystinuria, type III cystinuria, type III, formerly cystinuria, type a cystinuria, type non-I cystinuria, type non-I, formerly cystinuria-lysinuria cystinuria https://rarediseases.info.nih.gov/diseases/6237/cystinuria MONDO:0009068 A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis. https://github.com/monarch-initiative/mondo/issues/4521 cytochrome-C oxidase deficiency cytochrome-c oxidase deficiency disease isolated COX deficiency isolated mitochondrial respiratory chain complex IV deficiency mitochondrial complex IV deficiency mitochondrial complex IV deficiency, nuclear type 1 COX deficiency Complex 4 mitochondrial respiratory chain deficiency Complex IV deficiency Cox deficiency cytochrome C oxidase deficiency deficiency of mitochondrial respiratory chain complex4 isolated cytochrome C oxidase deficiency mitochondrial Complex 4 deficiency cytochrome-c oxidase deficiency disease MONDO:0009069 Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome, is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 COX deficiency, French-Canadian type Leigh syndrome, French-Canadian type Leigh syndrome, Saguenay-Lac-Saint-Jean type SLSJ-COX deficiency congenital lactic acidosis, Saguenay-Lac-Saint-Jean type cytochrome C oxidase deficiency, French-Canadian type cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) Cox deficiency, French Canadian type Cox deficiency, Saguenay Lac saint Jean type Cox deficiency, Saguenay-Lac-Saint-Jean type LSFC Leigh syndrome, French Canadian type Leigh syndrome, Saguenay Lac saint Jean type cytochrome C oxidase deficiency, French Canadian type congenital lactic acidosis, Saguenay-Lac-Saint-Jean type MONDO:0009070 A metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical findings include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. Some patients had hyperglycinemia secondary to the organic acidemia. However, some of the reported patients were asymptomatic. D-glyceric aciduria is caused by D-glycerate kinase deficiency. The GLYCTK gene has been mapped to 3p21. https://github.com/monarch-initiative/mondo/issues/2632 https://github.com/monarch-initiative/mondo/issues/4985 D-glycerate kinase deficiency D-glyceric acidemia d-glyceric aciduria D-glycericacidemia glycerate kinase deficiency non ketotic hyperglycinemia syndrome D-glyceric aciduria MONDO:0009071 Hereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF). Dalmatian hypouricemia hypouricemia, renal renal hypouricemia hereditary renal hypouricemia MONDO:0009072 Dandy-Walker malformation (DWM) is the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia. https://github.com/monarch-initiative/mondo/issues/4521 Dandy-Walker syndrome Dandy-Walker syndrome, Isolated cases atresia of foramina of Magendie and Luschka DW complex DWS Dandy-Walker complex Dandy-Walker malformation Dandy-Walker syndrome or malformation (type of DW complex) Dandy-Walker variant (type of DW complex) isolated Dandy-Walker malformation mega cisterna magna (type of DW complex) Dandy-Walker syndrome MONDO:0009073 Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the WASHC5 gene. Ritscher-Schinzel syndrome 1 Ritscher-Schinzel syndrome caused by mutation in WASHC5 Ritscher-Schinzel syndrome type 1 WASHC5 Ritscher-Schinzel syndrome 3C syndrome Craniocerebellocardiac dysplasia Dandy-Walker-like malformation with atrioventricular septal defect RTSC RTSC1 Ritscher-Schinzel syndrome Ritscher-Schinzel syndrome 1 MONDO:0009074 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome is characterised by Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive. https://github.com/monarch-initiative/mondo/issues/5588 Dandy-Walker malformation with intellectual disability, macrocephaly, myopia, and BRACHYTELEPHALANGY Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and BRACHYTELEPHALANGY facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome MONDO:0009075 Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals. DWM with postaxial polydactyly Pierquin syndrome Dandy-Walker malformation with postaxial polydactyly Dandy-Walker malformation-postaxial polydactyly syndrome MONDO:0009076 An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 deafness, digenic GJB2/GJB6, Autosomal recessive, Digenic dominant deafness, digenic, GJB2/GJB3, Autosomal recessive, Digenic dominant DFNB1 DFNB1A GJB2-related deafness autosomal recessive deafness 1A autosomal recessive nonsyndromic deafness 1A autosomal recessive nonsyndromic deafness type 1A connexin 26 deafness deafness nonsyndromic, connexin 26 linked deafness, autosomal recessive 1A deafness, autosomal recessive 1a, autosomal recessive, digenic dominant deafness, autosomal recessive type 1A deafness, digenic, GJB2/GJB3 deafness, digenic, GJB2/GJB6 autosomal recessive nonsyndromic hearing loss 1A https://rarediseases.info.nih.gov/diseases/1697/dfnb1 MONDO:0009077 https://github.com/monarch-initiative/mondo/issues/4069 deafness, congenital, and familial myoclonic epilepsy deafness, congenital, and familial myoclonic epilepsy MONDO:0009079 DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Isolated seizure disorders and isolated hearing loss have also been reported in individuals as a proposed spectrum of DOORS syndrome. https://github.com/monarch-initiative/mondo/issues/5588 DOORS syndrome autosomal recessive deafness-onychodystrophy syndrome deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome deafness-onychoosteodystrophy-intellectual disability syndrome door syndrome DOORS Digitorenocerebral syndrome Eronen syndrome brachydactyly due to absence of distal phalanges deafness onychodystrophy osteodystrophy and intellectual disability syndrome deafness onychodystrophy osteodystrophy and mental retardation syndrome deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures syndrome deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome drc syndrome DOORS syndrome https://rarediseases.info.nih.gov/diseases/1685/deafness-onychodystrophy-osteodystrophy-and-mental-retardation-syndrome MONDO:0009080 Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 SHFM1D congenital deafness with split hands and feet split hand-foot malformation 1 with sensorineural hearing loss split-hand/foot malformation 1 with sensorineural hearing loss deafness, congenital, with split hands and feet split hand-split foot-deafness syndrome split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive DO classifies under split hand-foot malformation, but we enforce disjointness between syndromes and features split hand-foot malformation 1 with sensorineural hearing loss MONDO:0009081 https://github.com/monarch-initiative/mondo/issues/4069 deafness, congenital, with total albinism deafness, congenital, with total albinism MONDO:0009082 High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations. high myopia-sensorineural deafness syndrome DFNMYP deafness and myopia deafness and myopia syndrome high myopia-sensorineural deafness syndrome MONDO:0009083 Mengel-Konigsmark syndrome conductive hearing loss-malformed external ear syndrome Ear deformity and conductive hearing loss conductive deafness - malformed external ear conductive deafness with malformed external ear conductive hearing loss and malformed low-set ears deafness, conductive, with malformed external EAR familial congenital moderate neural hearing loss conductive deafness-malformed external ear syndrome MONDO:0009084 Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978. Jackson-Barr syndrome Jackson Barr syndrome deafness conductive ptosis skeletal anomalies deafness, conductive, with ptosis and skeletal anomalies conductive deafness-ptosis-skeletal anomalies syndrome MONDO:0009085 Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. congenital deafness with vitiligo and achalasia deafness vitiligo achalasia deafness, congenital, with vitiligo and achalasia deafness-vitiligo-achalasia syndrome https://rarediseases.info.nih.gov/diseases/1705/congenital-deafness-with-vitiligo-and-achalasia MONDO:0009086 Deafness-small bowel diverticulosis-neuropathy syndrome is characterised by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis). Groll-Hirschowitz syndrome Groll Hirschowitz syndrome deafness, nerve type, with mesenteric diverticula of small bowel and progressive sensory neuropathy nerve type deafness with mesenteric diverticula of small bowel and progressive sensory neuropathy deafness-small bowel diverticulosis-neuropathy syndrome MONDO:0009087 deafness, neural, congenital moderate deafness, neural, congenital moderate MONDO:0009088 deafness, neural, with atypical atopic dermatitis deafness, neural, with atypical atopic dermatitis MONDO:0009089 Deafness-oligodontia syndrome is characterised by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive. deafness-oligodontia syndrome autosomal recessive sensorineural hearing impairment, dizziness, and hypodontia congenital profound sensorineural deafness and oligodontia deafness oligodontia syndrome deafness-oligodontia syndrome https://rarediseases.info.nih.gov/diseases/1698/deafness-oligodontia-syndrome MONDO:0009090 https://github.com/monarch-initiative/mondo/issues/551 deafness, sensorineural, autosomal-mitochondrial type hearing loss, sensorineural, autosomal-mitochondrial type MONDO:0009091 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated. non-acquired combined pituitary hormone deficiency with spine abnormalities non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome pituitary hormone deficiency, combined, type 3 CPHD3 Deafness, sensorineural with pituitary dwarfism Pituitary hormone deficiency, combined with rigid cervical spine Winkelmann-Bethge-Pfeiffer syndrome deafness, sensorineural, with pituitary dwarfism non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome pituitary hormone deficiency, combined, 3 pituitary hormone deficiency, combined, with rigid cervical spine non-acquired combined pituitary hormone deficiency with spine abnormalities MONDO:0009092 A rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities. NHD Nasu-Hakola disease PLO-SL PLOSL polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly presenile dementia with bone cysts progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease brain-bone-fat disease dementia, prefrontal, with bone cysts dementia, progressive, with lipomembranous polycystic osteodysplasia polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly MONDO:0009093 Dermatoleukodystrophy is characterised by the association of a progressive leukodystrophy marked by generalised mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood. Dermatoleukodystrophy dermatoleukodystrophy https://rarediseases.info.nih.gov/diseases/1813/dermatoleukodystrophy MONDO:0009094 Dermochondrocorneal dystrophy is characterised by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive. FranC'ois syndrome François syndrome dermochondrocorneal dystrophy DCCD Dermochondrocorneal dystrophy of François Francois syndrome dermochondrocorneal dystrophy MONDO:0009095 Dermatoosteolysis, Kirghizian type, is characterised by recurrent skin ulceration, arthralgia, fever, peri-articular osteolysis, oligodontia and nail dystrophy. This disease has been described in five sibs in a family of Kirghizian origin (Central Asia). Three of the sibs also presented with keratitis leading to visual impairment or blindess. Transmission is autosomal recessive. dermatoosteolysis, Kirghizian type Dermatoosteolysis Kirghizian type Kirghizian Dermatoosteolysis autosomal recessive syndrome of skin ulceration, arthroosteolysis with pseudoacromegaly, keratitis, and oligodontia dermatoosteolysis, Kirghizian type https://rarediseases.info.nih.gov/diseases/1814/dermatoosteolysis-kirghizian-type MONDO:0009097 Autosomal recessive form of persistent hyperplastic primary vitreous. autosomal recessive persistent hyperplastic primary vitreous persistent hyperplastic primary vitreous, autosomal recessive PHPVAR persistent fetal vasculature retinal nonattachment and falciform detachment retinal nonattachment, nonsyndromic congenital persistent hyperplastic primary vitreous, autosomal recessive MONDO:0009098 dextrocardia with unusual facies and microphthalmia Aughton syndrome dextrocardia, microphthalmia, cleft palate, choreoathetosis and intellectual disability dextrocardia, microphthalmia, cleft palate, choreoathetosis and mental retardation dextrocardia with unusual facies and microphthalmia https://rarediseases.info.nih.gov/diseases/136/dextrocardia-with-unusual-facies-and-microphthalmia MONDO:0009099 This syndrome is characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism. Schofer-Beetz-Bohl syndrome Schofer Beetz Bohl syndrome diabetes insipidus nephrogenic intellectual disability and intracerebral calcification diabetes insipidus nephrogenic mental retardation and intracerebral calcification diabetes insipidus, nephrogenic, with intellectual disability and intracerebral calcification diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification nephrogenic diabetes insipidus-intracranial calcification syndrome https://rarediseases.info.nih.gov/diseases/259/diabetes-insipidus-nephrogenic-mental-retardation-and-intracerebral-calcification MONDO:0009100 Any type 1 diabetes mellitus that is caused by variation in genes located in the MHC complex on chromosome 6p21.3. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5033 IDDM diabetes mellitus, insulin-dependent diabetes mellitus, type 1 juvenile-onset diabetes type 1 diabetes mellitus IDDM1 diabetes mellitus, insulin-dependent, 1 diabetes mellitus, insulin-dependent-1 insulin-dependent diabetes mellitus 1 diabetes, type 1, susceptibility to type 1 diabetes mellitus 1 MONDO:0009101 Any Wolfram syndrome in which the cause of the disease is a mutation in the WFS1 gene. WFS1 WFS1 Wolfram syndrome Wolfram syndrome 1 Wolfram syndrome caused by mutation in WFS1 Wolfram syndrome type 1 WOLFRAM syndrome 1 Wfs diabetes insipidus and mellitus with optic atrophy and deafness Wolfram syndrome 1 MONDO:0009102 Diaminopentanuria cystine-lysinuria diaminopentanuria MONDO:0009103 https://github.com/monarch-initiative/mondo/issues/4521 diaphragmatic hernia 2 hernia, congenital diaphragmatic 2 DIH2 diaphragmatic hernia 2 MONDO:0009104 Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common. DBS/FOAR syndrome Donnai-Barrow syndrome FOAR syndrome Holmes-Schepens syndrome diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria diaphragmatic hernia-exomphalos-hypertelorism syndrome diaphragmatic hernia-hypertelorism-myopia-deafness syndrome facio-oculo-acoustico-renal syndrome faciooculoacousticorenal syndrome syndrome of ocular and facial anomalies, telecanthus and deafness diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and Proteinuria Donnai-Barrow syndrome https://rarediseases.info.nih.gov/diseases/1899/donnai-barrow-syndrome MONDO:0009105 A severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction. SD/THE Tricho-hepato-enteric syndrome Trichohepatoenteric syndrome Trichohepatoenteric syndrome type 1 phenotypic diarrhea syndromic diarrhea syndromic diarrhea/Tricho-hepato-enteric syndrome Syndromatic diarrhea THES1 trichohepatoenteric syndrome MONDO:0009106 A rare congenital abnormality in which the spinal cord is split in half by fibrous or bony tissue. It may present as an isolated phenomenon or in association with spina bifida. SCM type 1 diastematomyelia split cord malformation type 1 Dimyelia Pseudodiplomyelia SSCM diplomyelia split cord malformation split spinal cord malformation diastematomyelia MONDO:0009107 Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips). https://github.com/monarch-initiative/mondo/issues/4948 diastrophic dysplasia DD DTD diastrophic dwarfism diastrophic dysplasia, Broad bone-Platyspondylic variant diastrophic dysplasia MONDO:0009108 Hyperdibasic aminoaciduria, type 1 is characterised by increased renal clearance of lysine, ornithine and arginine, in the presence of normal concentrations of cystine. Heterozygous individuals are asymptomatic but homozygotes display intellectual deficit. To date, 25 heterozygotes and one homozygote have been reported. https://github.com/monarch-initiative/mondo/issues/4985 dibasic amino aciduria type 1 dibasic amino aciduria 1 dibasic amino aciduria I dibasic aminoaciduria 1 hyperdibasic aminoaciduria type 1 https://rarediseases.info.nih.gov/diseases/1854/dibasic-aminoaciduria-1 MONDO:0009109 Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism. https://github.com/monarch-initiative/mondo/issues/4985 LPI dibasic amino aciduria II hyperdibasic aminoaciduria hyperdibasic aminoaciduria type 2 lysinuric protein intolerance Dibasicamino aciduria II dibasic amino aciduria 2 dibasic aminoaciduria 2 lysinuric PROTEIN intolerance lysinuric protein intolerance https://rarediseases.info.nih.gov/diseases/1853/dibasic-aminoaciduria-2 https://rarediseases.info.nih.gov/diseases/3335/lysinuric-protein-intolerance MONDO:0009110 Dicarboxylicaminoaciduria is characterised by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit. https://github.com/monarch-initiative/mondo/issues/4985 dicarboxylic aminoaciduria glutamate-aspartate transport defect DCBXA Dicarboxylicaminoaciduria glutamate-aspartate Transport defect dicarboxylic aminoaciduria https://rarediseases.info.nih.gov/diseases/1855/dicarboxylic-aminoaciduria MONDO:0009111 Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity. dihydropyrimidinase deficiency dihydropyrimidinuria DPYSD Dph deficiency Dpys deficiency dihydropyrimidinuria MONDO:0009112 Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the GNPAT gene. https://github.com/monarch-initiative/mondo/issues/2632 https://github.com/monarch-initiative/mondo/issues/4948 Dhapat deficiency Dihydroxyacetonephosphate acyltransferase deficiency GNPAT rhizomelic chondrodysplasia punctata Glyceronephosphate O-acyltransferase deficiency Gnpat deficiency Rcdp2 chondrodysplasia punctata, rhizomelic, due to Dihydroxyacetonephosphate acyltransferase deficiency peroxisomal dihydroxyacetonephosphate acyltransferase deficiency rhizomelic chondrodysplasia punctata caused by mutation in GNPAT rhizomelic chondrodysplasia punctata type 2 rhizomelic chondrodysplasia punctata, type 2 type 2 rhizomelic chondrodysplasia punctata RCDP2 chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate rhizomelic chondrodysplasia punctata type 2 https://rarediseases.info.nih.gov/diseases/9429/rhizomelic-chondrodysplasia-punctata-type-2 MONDO:0009113 A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly. https://github.com/monarch-initiative/mondo/issues/4521 diphosphoglycerate phosphatase deficiency erythrocytosis, familial, 8 BPGM deficiency DPGM deficiency bisphosphoglycerate mutase deficiency bisphosphoglyceromutase deficiency diphosphoglycerate mutase deficiency of erythrocyte hemolytic anemia due to diphosphoglycerate mutase deficiency MONDO:0009114 A disorder of carbohydrate absorption and transport caused by autosomal recessive mutation of the SI gene, characterised by malabsorption of sucrose and maltose. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4985 CSID congenital sucrase-isomaltase deficiency congenital sucrase-isomaltose malabsorption congenital sucrose intolerance disaccharide intolerance genetic sucrase-isomaltose malabsorption sucrase-isomaltase deficiency SI deficiency congenital sucrose malabsorption congenital sucrose-isomaltase intolerance congenital sucrose-isomaltase malabsorption disaccharide intolerance 1 disaccharide intolerance i disaccharide intolerance, 1 intestinal sucrase-a-dextrinase deficiency invertase deficiency sucrase-alpha-dextrinase deficiency sucrase-isomaltase deficiency, congenital sucrose intolerance congenital sucrose intolerance, congenital sucrose isomaltose enzyme deficiency sucrose-isomaltase malabsorption, congenital sucrose-isomaltose malabsorption, congenital congenital sucrase-isomaltase deficiency https://ghr.nlm.nih.gov/condition/congenital-sucrase-isomaltase-deficiency https://rarediseases.info.nih.gov/diseases/6183/congenital-sucrose-isomaltose-malabsorption MONDO:0009115 Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4985 congenital lactase deficiency Alactasia, congenital disaccharide intolerance 2 lactase deficiency, congenital congenital lactase deficiency https://rarediseases.info.nih.gov/diseases/12311/congenital-lactase-deficiency MONDO:0009118 disseminated sclerosis with narcolepsy disseminated sclerosis with narcolepsy MONDO:0009119 https://github.com/monarch-initiative/mondo/issues/4946 diverticulosis, small-intestinal diverticulosis, small-intestinal MONDO:0009120 A syndromic intestinal malformation characterized by the association of marfanoid habitus with visceral diverticula. It has been reported in four adults and two siblings from a consanguineous marriage in two different publications. Pediatric cases also presented with diaphragmatic hernia. Other connective tissue disorders with visceral diverticula have been reported previously, suggesting a relationship between these two conditions. diverticulosis of bowel, hernia, and retinal detachment marfanoid syndrome, De Silva type Marphanoid syndrome type De Silva The disease entity is based solely on two publications from 1962 and 1996 and it is unclear if the patients described had a Mendelian disease. diverticulosis of bowel, hernia, and retinal detachment MONDO:0009121 Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia. DK phocomelia syndrome phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome von Voss-Cherstvoy syndrome Von Voss Cherstvoy syndrome phocomelia thrombocytopenia encephalocele and urogenital malformations phocomelia, thrombocytopenia, encephalocele, urogenital malformations von Voss-Cherstvoy syndrome MONDO:0009122 Dohle bodies and leukemia Dohle bodies and leukemia MONDO:0009123 Dopamine beta-hydroxylase deficiency is an extremely rare genetic metabolic disorder characterized by autonomic dysregulation leading mainly to orthostatic hypotension. https://github.com/monarch-initiative/mondo/issues/4521 congenital dopamine beta-hydroxylase deficiency dopamine beta-hydroxylase deficiency noradrenaline deficiency norepinephrine deficiency orthostatic hypotension 1, due to DBH deficiency dopamine BETA-HYDROXYLASE deficiency, congenital dopamine beta hydroxylase deficiency dopamine beta-hydroxylase deficiency https://rarediseases.info.nih.gov/diseases/1903/dopamine-beta-hydroxylase-deficiency MONDO:0009124 A rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities. https://github.com/monarch-initiative/mondo/issues/5588 Dubowitz syndrome Dubowitz's syndrome dwarfism-eczema-peculiar facies syndrome intrauterine growth retardation, short stature, microcephaly, mild intellectual disability with behavior problems, eczema, and unusual and distinctive faci intrauterine growth retardation, short stature, microcephaly, mild mental retardation with behavior problems, eczema, and unusual and distinctive faci Dubowitz syndrome https://rarediseases.info.nih.gov/diseases/6290/dubowitz-syndrome MONDO:0009126 Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen. duodenal atresia (disease) atresia of duodenum congenital atresia of duodenum congenital duodenal atresia duodenal atresia duodenal atresia (disease) duodenal stenosis duodenal atresia MONDO:0009127 dwarfism, low-birth-weight type, with unresponsiveness to growth hormone dwarfism, low-birth-weight type with unresponsiveness to growth hormone dwarfism, low-birth-weight type, with unresponsiveness to growth hormone https://rarediseases.info.nih.gov/diseases/3293/dwarfism-low-birth-weight-type-with-unresponsiveness-to-growth-hormone MONDO:0009128 dwarfism, intellectual disability, and eye abnormality dwarfism, mental retardation, and eye abnormality Mollica syndrome dwarfism, intellectual disability, and eye abnormality MONDO:0009129 dwarfism, proportionate, with hip dislocation dwarfism, proportionate with hip dislocation dwarfism, proportionate, with hip dislocation https://rarediseases.info.nih.gov/diseases/10606/dwarfism-proportionate-with-hip-dislocation MONDO:0009130 Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias. https://github.com/monarch-initiative/mondo/issues/4948 DMC disease Dyggve-Melchior-Clausen disease Dyggve-Melchior-Clausen syndrome pseudo-Morquio disease type I DMC DMC syndrome Dyggve-Melchior-Clausen disease MONDO:0009131 A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system. https://github.com/monarch-initiative/mondo/issues/5682 HSAN 3 HSAN III HSAN3 Riley-Day syndrome familial dysautonomia hereditary sensory and autonomic neuropathy type 3 hereditary sensory and autonomic neuropathy type III neuropathy, hereditary sensory and autonomic, type III HSN 3 Riley Day syndrome dysautonomia, familial familial autonomic nervous dysfunction hereditary sensory and autonomic neuropathy 3 hereditary sensory neuropathy type 3 neuropathy, hereditary sensory and autonomic, type 3 Riley-Day syndrome MONDO:0009132 dysautonomia-like disorder dysautonomia like disorder dysautonomia-like disorder https://rarediseases.info.nih.gov/diseases/9475/dysautonomia-like-disorder MONDO:0009133 A non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia. CAMRQ CAMRQ syndrome cerebellar ataxia, mental retardation and dysequlibrium syndrome cerebellar ataxia, mental retardation, and dysequilibrium cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome dialysis dysequilibrium syndrome dysequilibrium syndrome non-progressive cerebellar ataxia-intellectual disability syndrome DES VLDLRCH cerebellar disorder, nonprogressive, with mental retardation cerebellar hypoplasia, VLDLR associated cerebellar ataxia, intellectual disability, and dysequilibrium https://rarediseases.info.nih.gov/diseases/1998/dysequilibrium-syndrome MONDO:0009134 Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 CDA II CDA type 2 CDA type II SEC23B-CDG congenital dyserythropoietic anemia type 2 dyserythropoietic anemia, congenital, type II hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas) CDAN2 Cda 2 anemia, congenital dyserythropoietic, type 2 anemia, congenital dyserythropoietic, type II anemia, dyserythropoietic, congenital type 2 dyserythropoietic Anemia, congenital, type 2 dyserythropoietic Anemia, hempas type hempas anemia hereditary erythroblastic multinuclearity with Positive acidified-serum test congenital dyserythropoietic anemia type 2 MONDO:0009135 https://github.com/monarch-initiative/mondo/issues/4069 anemia, congenital dyserythropoietic, type 1a anemia, congenital dyserythropoietic, type Ia CDA Ia CDAN1A anemia, congenital dyserythropoietic, type 1 dyserythropoietic Anemia, congenital, type Ia anemia, congenital dyserythropoietic, type 1a MONDO:0009136 A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA3 on chromosome 15q14. DKCB1 dyskeratosis congenita, autosomal recessive 1 dyskeratosis congenita, autosomal recessive type 1 DKCB autosomal recessive dyskeratosis congenita autosomal recessive dyskeratosis congenita 1 dyskeratosis congenita autosomal recessive dyskeratosis congenita, autosomal recessive 1 https://rarediseases.info.nih.gov/diseases/6300/dyskeratosis-congenita-autosomal-recessive MONDO:0009137 dysmyelination with jaundice dysmyelination with jaundice MONDO:0009138 Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly. https://github.com/monarch-initiative/mondo/issues/4948 dysosteosclerosis dysosteosclerosis https://rarediseases.info.nih.gov/diseases/2012/dysosteosclerosis MONDO:0009139 https://github.com/monarch-initiative/mondo/issues/4948 dyssegmental dysplasia, Rolland-Desbuquois type Anisospondylic Camptomicromelic dwarfism, Rolland-Desbuquois type Anisospondylic camptomicromelic dwarfism Rolland-Desbuquois type Ddrd dyssegmental dwarfism Rolland-Desbuquois type dyssegmental dwarfism, Rolland-Desbuquois type dyssegmental dysplasia Rolland-Desbuquois type dyssegmental dysplasia, Rolland-Desbuquois type https://rarediseases.info.nih.gov/diseases/9810/dyssegmental-dysplasia-rolland-desbuquois-type MONDO:0009140 Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities. https://github.com/monarch-initiative/mondo/issues/4948 Anisospondylic Camptomicromelic dwarfism, Silverman-Handmaker type Anisospondylic camptomicromelic dwarfism Silverman-Handmaker type DDSH dyssegmental dwarfism Silverman-Handmaker type dyssegmental dwarfism, Silverman-Handmaker type dyssegmental dysplasia Silverman-Handmaker type dyssegmental dysplasia, Silverman-Handmaker type Silverman-Handmaker type dyssegmental dysplasia https://rarediseases.info.nih.gov/diseases/2026/dyssegmental-dysplasia-silverman-handmaker-type MONDO:0009141 Primary dystonia DYT2 type is characterized by segmental dystonia that manifests with involuntary posturing affecting predominantly the feet. DYT2 HPCA dystonic disorder autosomal recessive torsion dystonia 2 dystonic disorder caused by mutation in HPCA torsion dystonia type 2 dystonia 2, torsion, autosomal recessive dystonia musculorum deformans 2 dystonia musculorum deformans type 2 primary dystonia, DYT2 type torsion dystonia 2, autosomal recessive type torsion dystonia 2 MONDO:0009142 dystonia with Ringbinden dystonia with Ringbinden MONDO:0009143 Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC1 gene. https://github.com/monarch-initiative/mondo/issues/4948 Meier-Gorlin syndrome 1 Meier-Gorlin syndrome caused by mutation in ORC1 Meier-Gorlin syndrome type 1 ORC1 Meier-Gorlin syndrome Ear, patella, short stature syndrome MGORS1 Meier-GORLIN syndrome 1 Meier-Gorlin syndrome microtia, absent patellae, micrognathia syndrome Meier-Gorlin syndrome 1 MONDO:0009144 Ebstein's malformation is a rare congenital cardiac anomaly characterized by rotational displacement of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction. Ebstein anomaly (disease) Ebstein anomaly Ebstein anomaly (disease) Ebstein anomaly of the tricuspid valve Ebstein's anomaly Ebstein's anomaly (disorder) [ambiguous] Ebstein's anomaly of common atrioventricular valve Ebstein's anomaly of right atrioventricular valve Ebstein's anomaly of tricuspid valve Ebstein malformation Ebstein's malformation Ebstein anomaly MONDO:0009145 A rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy. https://github.com/monarch-initiative/mondo/issues/3293 SSPS eccrine tumors-ectodermal dysplasia keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome SCHOPF-Schulz-Passarge syndrome SChöPF-Schulz-Passarge syndrome eccrine tumors with ectodermal dysplasia keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis SchC6pf-Schulz-Passarge syndrome MONDO:0009146 Ectodermal dysplasia-sensorineural deafness syndrome is characterised by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive. ectodermal dysplasia-sensorineural hearing loss syndrome Mikaelian syndrome congenital ectodermal dysplasia with hearing loss ectodermal dysplasia and neurosensory deafness hidrotic ectodermal dysplasia, sensorineural hearing loss and contracture of the fifth fingers ectodermal dysplasia-sensorineural deafness syndrome https://rarediseases.info.nih.gov/diseases/9723/congenital-ectodermal-dysplasia-with-hearing-loss MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ECTD10B ectodermal dysplasia, anhidrotic ectodermal dysplasia, hypohidrotic ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive MONDO:0009148 A rare congenital ectodermal dysplasia syndrome with a range of signs and symptoms including cleft lip or palate, mental retardation and various forms of ectodermal dysplasia. Additional symptoms may include fused eyelids, absent nails, delayed bone growth and dry skin. It is believed that this syndrome follows an autosomal dominant pattern of inheritance with incomplete penetrance, and caused by a mutation affecting the TP63 gene https://github.com/monarch-initiative/mondo/issues/432 Rosselli-Gulienetti syndrome Rosselli-Gulienetti syndrome MONDO:0009149 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998. ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome MONDO:0009150 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome is characterised by alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction (primary hypothyroidism), hypohidrosis, ephelides, enteropathy, and respiratory tract infections due to ciliary dyskinesia, leading to suggestion of the acronym ANother syndrome as alternative name for this condition. It has been described in three patients (two brothers and an unrelated girl). Transmission is autosomal recessive. HEDH syndrome another syndrome ectodermal dysplasia hypohidrotic with hypothyroidism and ciliary dyskinesia ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia hypohidrotic ectodermal dysplasia with hypothyroidism hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome https://rarediseases.info.nih.gov/diseases/2049/hypohidrotic-ectodermal-dysplasia-with-hypothyroidism-and-ciliary-dyskinesia MONDO:0009151 An ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability. Zlotogora-Ogur syndrome Zlotogora-Zilberman-Tenenbaum syndrome cleft lip/palate-ectodermal dysplasia syndrome cleft lip/palate-syndactyly-pili torti syndrome margarita type of ectodermal dysplasia syndactyly-ectodermal dysplasia-cleft/lip palate Bustos Simosa pinto Cisternas syndrome CLEPD CLPED1 ED4 Zlotogora syndrome autosomal recessive ectodermal dysplasia cleft lip with or without cleft palate, nonsyndromic, 7 cleft lip-palate-ectodermal dysplasia syndrome cleft lip/palate-syndactyly-pili torti ectodermal dysplasia margarita island type ectodermal dysplasia type 4 ectodermal dysplasia, cleft lip and palate, intellectual disability, and syndactyly ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly ectodermal dysplasia, margarita Island type ectodermal dysplasia, type 4 orofacial cleft 7 cleft lip/palate-ectodermal dysplasia syndrome MONDO:0009152 An isolated ectopia lentis that has material basis in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21. https://github.com/monarch-initiative/mondo/issues/4521 ECTOL2 ectopia lentis 2, isolated, autosomal recessive ectopia lentis, isolated, autosomal recessive autosomal recessive isolated ectopia lentis autosomal recessive isolated ectopia lentis 2 ectopia lentis, isolated autosomal recessive ectopia lentis 2, isolated, autosomal recessive MONDO:0009153 ectopia lentis et pupillae ectopia lentis with ectopia of pupil ectopia lentis et pupillae MONDO:0009154 Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the NKX2-5 gene. https://github.com/monarch-initiative/mondo/issues/4521 CHNG5 NKX2-5 hypothyroidism, congenital, nongoitrous hypothyroidism, congenital nongoitrous, 5 hypothyroidism, congenital, nongoitrous caused by mutation in NKX2-5 hypothyroidism, congenital, nongoitrous, 5 hypothyroidism, congenital, nongoitrous, type 5 congenital nongoitrous hypothryoidism 5 congenital nongoitrous hypothyroidism 5 hypothyroidism, congenital, nongoitrous, 5 MONDO:0009155 EEM syndrome is characterised by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1). https://github.com/monarch-initiative/mondo/issues/4948 EEM syndrome ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome EEMS ectodermal dysplasia, ectrodactyly, and macular dystrophy ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome EEM syndrome https://rarediseases.info.nih.gov/diseases/2078/eem-syndrome MONDO:0009156 A rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982. ectrodactyly polydactyly ectrodactyly-polydactyly ectrodactyly-polydactyly syndrome https://rarediseases.info.nih.gov/diseases/2068/ectrodactyly-polydactyly MONDO:0009157 Any split hand-foot malformation in which the cause of the disease is a mutation in the WNT10B gene. https://github.com/monarch-initiative/mondo/issues/4948 SHFM6 WNT10B split hand-foot malformation split hand-foot malformation caused by mutation in WNT10B split hand-foot malformation type 6 split-hand/foot malformation type 6 ectrodactyly, autosomal recessive split-hand/foot malformation 6 split hand-foot malformation 6 MONDO:0009158 Ehlers-Danlos syndromes (EDS) form a heterogeneous group of inherited connective tissue disorders characterized by variable joint hypermobility and cutaneous hyperextensibility. Type X is distinguished by platelet dysfunction associated with a fibronectin abnormality. Type X EDS has been described in only one family so far. Age of onset is about 13-25 years. Transmission is autosomal recessive. EDS X Ehlers-Danlos syndrome type 10 Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality Ehlers-Danlos syndrome, fibronectin-deficient EDS 10 EDS10 (formerly) Ehlers-Danlos syndrome type 10 (formerly) Ehlers-Danlos syndrome, dysfibronectinemic type Ehlers-Danlos syndrome, type 10 Ehlers-Danlos syndrome, type X (formerly) FN Abnormality Ehlers-Danlos syndrome, fibronectinemic type MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency. EDS, cardiac valvular type Cardiac valvular form of Ehlers-Danlos syndrome Cardiac valvular form of autosomal recessive Ehlers-Danlos syndrome Cardiac-valvular EDS Cardiac-valvular Ehlers-Danlos syndrome EDSCV Ehlers-Danlos syndrome, CARDIAC valvular type Ehlers-Danlos syndrome, arthrochalasis type Ehlers-Danlos syndrome, autosomal recessive, CARDIAC valvular form Ehlers-Danlos syndrome, autosomal recessive, Cardiac valvular form cvEDS Ehlers-Danlos syndrome, cardiac valvular type MONDO:0009161 A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility. EDS VIIC Ehlers-Danlos syndrome type 7C Ehlers-Danlos syndrome, dermatosparaxis type EDS 7C EDS7C EDSDERMS Ehlers-Danlos syndrome type 7C (formerly) Ehlers-Danlos syndrome, type VII, autosomal recessive dEDS dermatosparaxis dermatosparaxis EDS dermatosparaxis Ehlers-Danlos syndrome Ehlers-Danlos syndrome, dermatosparaxis type MONDO:0009162 Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects. https://github.com/monarch-initiative/mondo/issues/4948 Chondroectodermal dysplasia Ellis-van Creveld syndrome mesodermic dysplasia EVC Ellis Van Creveld syndrome Ellis-VAN Creveld syndrome Mesoectodermal dysplasia Ellis-van Creveld syndrome https://rarediseases.info.nih.gov/diseases/1301/ellis-van-creveld-syndrome MONDO:0009163 encephalomalacia, multilocular encephalomalacia, multilocular MONDO:0009164 https://github.com/monarch-initiative/mondo/issues/5671 encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts Lyon syndrome encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts MONDO:0009165 Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the TREX1 gene. https://github.com/monarch-initiative/mondo/issues/4521 Aicardi-Goutieres syndrome 1 Aicardi-Goutieres syndrome 1, dominant and recessive Aicardi-Goutieres syndrome caused by mutation in TREX1 Aicardi-Goutieres syndrome type 1 TREX1 Aicardi-Goutieres syndrome AGS1 Ags Aicardi-Goutieres syndrome 1, autosomal dominant Cree encephalitis Pseudotoxoplasmosis syndrome encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis Aicardi-Goutieres syndrome 1 MONDO:0009166 Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH, characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death. PCH4 fatal infantile encephalopathy with olivopontocerebellar hypoplasia olivopontocerebellar hypoplasia encephalopathy fatal infantile with olivopontocerebellar hypoplasia encephalopathy, fatal infantile, with olivopontocerebellar Hypoplasia pontocerebellar hypoplasia, type 4 pontocerebellar hypoplasia type 4 https://rarediseases.info.nih.gov/diseases/343/pontocerebellar-hypoplasia-type-4 MONDO:0009167 Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991. https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/5671 encephalopathy-intracerebral calcification-retinal degeneration syndrome Bonnemann Meinecke Reich syndrome encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration Bonnemann-Meinecke-Reich syndrome https://rarediseases.info.nih.gov/diseases/2113/encephalopathy-intracranial-calcification-growth-hormone-deficiency-microcephaly-retinal-degeneration MONDO:0009168 Encephaloclastic proliferative vasculopathy Fowler syndrome cerebral proliferative glomeruloid vasculopathy hydrocephaly/hydranencephaly due to cerebral vasculopathy proliferative vasculopathy and hydranencephaly/hydrocephaly PVHH hydranencephaly, fowler type proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome Fowler syndrome MONDO:0009169 Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another cardiac malformation, notably aortic stenosis or atresia. Elastomyofibrosis endocardial fibroelastosis EFE endomyocardial fibroelastosis Editor notes: ORDO classifies as both familial and non-familial endocardial fibroelastosis https://rarediseases.info.nih.gov/diseases/6336/endocardial-fibroelastosis MONDO:0009170 endocardial fibroelastosis and coarctation of abdominal aorta endocardial fibroelastosis and coarctation of abdominal aorta MONDO:0009171 endothelial dystrophy, congenital hereditary, with nail hypoplasia endothelial dystrophy, congenital hereditary, with nail hypoplasia MONDO:0009172 An inflammatory process affecting the small intestine and colon. Causes include viruses, bacteria, radiation, and antibiotics use. enterocolitis (disease) enterocolitis enterocolitis (disease) enterocolitis MONDO:0009173 A rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated. https://github.com/monarch-initiative/mondo/issues/4069 congenital enterokinase deficiency enterokinase deficiency enteropeptidase deficiency congenital enteropathy due to enteropeptidase deficiency MONDO:0009174 Pathological conditions in the intestines that are characterized by the gastrointestinal loss of serum proteins, including serum albumin; immunoglobulins; and at times lymphocytes. Severe condition can result in hypogammaglobulinemia or lymphopenia. Protein-losing enteropathies are associated with a number of diseases including intestinal lymphangiectasis; whipple'S disease; and neoplasms of the small intestine. protein-losing enteropathy (disease) enteropathy, exudative exudative enteropathy protein-losing enteropathy protein-losing enteropathy (disease) CHAPLE complement hyperactivation, ANGIOPATHIC thrombosis, and PROTEIN-losing enteropathy complement hyperactivation, Angiopathic thrombosis, and Protein-losing enteropathy enteropathy, PROTEIN-losing protein-losing enteropathy MONDO:0009175 Eosinophilic fasciitis is a rare connective tissue disease that is characterized by inflammation and thickening of the fascia, usually associated with peripheral eosinophilia. It presents during adulthood with symmetrical and painful swelling of mainly the extremities that progressively become indurated. Fatigue, disabling cutaneous fibrosis, myositis and arthritis may also be observed. eosinophilic fasciitis (disease) Shulman syndrome diffuse fasciitis with eosinophilia eosinophilic fasciitis eosinophilic fasciitis (disease) EF eosinophilic fasciitis MONDO:0009176 A rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer. Lewandowsky-Lutz dysplasia Lewandowsky-Lutz syndrome Lutz-Lewandowsky epidermodysplasia verruciformis epidermodysplasia verruciformis EV ever epidermodysplasia verruciformis https://rarediseases.info.nih.gov/diseases/6357/epidermodysplasia-verruciformis MONDO:0009177 epidermolysis bullosa simplex localisata associated with anodontia, hair and nail disorders epidermolysis bullosa, late-onset localized junctional, with intellectual disability epidermolysis bullosa, late-onset localized junctional, with mental retardation late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome MONDO:0009178 epidermolysis bullosa dystrophica Neurotrophica epidermolysis bullosa progressiva, recessive epidermolysis bullosa with congenital deafness epidermolysis bullosa dystrophica Neurotrophica MONDO:0009179 Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. https://github.com/monarch-initiative/mondo/issues/4521 EBD inversa RDEB generalisata gravis RDEB, Hallopeau-Siemens type RDEB-sev gen autosomal recessive dystrophic epidermolysis bullosa generalisata gravis autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type epidermolysis bullosa dystrophica, AR epidermolysis bullosa dystrophica, autosomal recessive, modifier of severe generalized RDEB severe generalized recessive dystrophic epidermolysis bullosa RDEB RDEB, severe generalized autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly) dystrophic epidermolysis bullosa, autosomal recessive epidermolysis bullosa dystrophica inversa, autosomal recessive epidermolysis bullosa dystrophica, Hallopeau-Siemens type epidermolysis bullosa dystrophica, autosomal recessive epidermolysis bullosa dystrophica, autosomal recessive, Localisata variant epidermolysis bullosa dystrophica, generalized severe, autosomal recessive recessive dystrophic epidermolysis bullosa, severe generalized recessive dystrophic epidermolysis bullosa MONDO:0009180 Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia. JEN-nH JEB-I JEB-nH epidermolysis bullosa Junctionalis, Disentis type epidermolysis bullosa Junctionalis, non-Herlitz type epidermolysis bullosa Junctionalis, progressive epidermolysis bullosa Junctionalis, severe Nonlethal epidermolysis bullosa, generalized atrophic benign epidermolysis bullosa, junctional, Localisata variant epidermolysis bullosa, junctional, non-Herlitz type junctional epidermolysis bullosa inversa junctional epidermolysis bullosa, non-Herlitz type MONDO:0009181 A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy. https://github.com/monarch-initiative/mondo/issues/4499 https://github.com/monarch-initiative/mondo/issues/4521 EBS-MD epidermolysis bullosa simplex 5B, with muscular dystrophy epidermolysis bullosa simplex and limb-girdle muscular dystrophy epidermolysis bullosa simplex with muscular dystrophy limb-girdle muscular dystrophy with epidermolysis bullosa simplex EBSMD Epidermolysa bullosa simplex and limb girdle muscular dystrophy Epidermolysa bullosa simplex with muscular dystrophy MD-EBS MDEBS epidermolysis bullosa simplex - limb girdle muscular dystrophy epidermolysis bullosa simplex 5B, with muscular dystrophy https://rarediseases.info.nih.gov/diseases/2137/epidermolysa-bullosa-simplex-with-muscular-dystrophy MONDO:0009182 Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes. Herlitz type epidermolysis bullosa junctionalis Herlitz-Pearson-type epidermolysis bullosa JEB, generalized severe JEB-H JEB-Herlitz type epidermolysis bullosa letalis junctional epidermolysis bullosa generalisata gravis junctional epidermolysis bullosa, Herlitz-Pearson type Herlitz-Pearson type epidermolysis bullosa epidermolysis bullosa Junctionalis, Herlitz type epidermolysis bullosa, junctional, Herlitz type epidermolysis bullosa, junctional, Herlitz-Pearson type junctional epidermolysis bullosa, Herlitz type junctional epidermolysis bullosa, generalized severe junctional epidermolysis bullosa Herlitz type https://rarediseases.info.nih.gov/diseases/2153/junctional-epidermolysis-bullosa-herlitz-type MONDO:0009183 Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract. https://github.com/monarch-initiative/mondo/issues/4521 Carmi syndrome JEB-PA epidermolysis bullosa junctionalis with pyloric atresia epidermolysis bullosa, junctional, with pyloric stenosis junctional epidermolysis bullosa with pyloric atresia junctional epidermolysis bullosa-pyloric atresia syndrome EB-Pa-ACC JEB-Pa aplasia cutis congenita with gastrointestinal atresia epidermolysis bullosa JUNCTIONALIS with pyloric atresia epidermolysis bullosa with pyloric atresia epidermolysis bullosa, junctional, with pyloric atresia epidermolysis bullosa, junctional, with pyloric atresia and aplasia cutis congenita junctional epidermolysis bullosa - pyloric atresia junctional epidermolysis bullosa with pyloric atresia https://rarediseases.info.nih.gov/diseases/9694/junctional-epidermolysis-bullosa-with-pyloric-atresia MONDO:0009184 epidermolysis bullosa with diaphragmatic hernia epidermolysis bullosa with diaphragmatic hernia MONDO:0009185 Kohlschütter-TC6nz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia. Kohlschutter-Tonz syndrome amelocerebrohypohidrotic syndrome epilepsy-dementia-amelogenesis imperfecta syndrome KOHLSCHUTTER-Tonz syndrome KTZS Kohlschutter Tonz syndrome Kohlschutter syndrome epilepsy and Yellow teeth epilepsy dementia amelogenesis imperfecta epilepsy, dementia, and amelogenesis imperfecta amelocerebrohypohidrotic syndrome MONDO:0009186 epilepsy, photogenic, with spastic diplegia and intellectual disability epilepsy, photogenic, with spastic diplegia and mental retardation epilepsy, photogenic, with spastic diplegia and intellectual disability MONDO:0009187 Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications. CEC celiac disease, epilepsy, and cerebral calcification syndrome bilateral occipital calcifications with epilepsy celiac disease epilepsy occipital calcifications epilepsy occipital calcifications epilepsy with bilateral occipital calcifications familial unilateral and bilateral occipital calcifications and epilepsy celiac disease-epilepsy-cerebral calcification syndrome MONDO:0009188 Epilepsy telangiectasia syndrome is characterized by intellectual deficit, epilepsy, palpebral conjunctival telangiectasias and diminished serum IgA, particular facies and a shortened fifth finger. It has been reported in six siblings from a Mexican family. It is probably transmitted as an autosomal recessive trait. https://github.com/monarch-initiative/mondo/issues/5588 epilepsy telangiectasia epilepsy-telangiectasia intellectual disability, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency mental retardation, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency epilepsy-telangiectasia syndrome MONDO:0009189 Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum. https://github.com/monarch-initiative/mondo/issues/4948 EDM4 MED4 Polyepiphyseal dysplasia type 4 SLC26A2 multiple epiphyseal dysplasia (disease) autosomal recessive multiple epiphyseal dysplasia epiphyseal dysplasia, multiple, type 4 multiple epiphyseal dysplasia (disease) caused by mutation in SLC26A2 rMED epiphyseal dysplasia multiple 4 epiphyseal dysplasia, multiple, 4 multiple epiphyseal dysplasia 4 multiple epiphyseal dysplasia with Bilayered patellae multiple epiphyseal dysplasia with clubfoot multiple epiphyseal dysplasia with double-layered patella multiple epiphyseal dysplasia, autosomal recessive multiple epiphyseal dysplasia type 4 MONDO:0009190 epiphyseal dysplasia of femoral head, myopia, and deafness epiphyseal dysplasia of femoral head, myopia, and deafness MONDO:0009191 Lowry-Wood syndrome is characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive. https://github.com/monarch-initiative/mondo/issues/4948 Lowry-Wood syndrome epiphyseal dysplasia-microcephaly-nystagmus syndrome LWS Lowry Wood syndrome epiphyseal dysplasia, microcephaly and nystagmus epiphyseal dysplasia, microcephaly, and NYSTAGMUS Lowry-Wood syndrome https://rarediseases.info.nih.gov/diseases/264/lowry-wood-syndrome MONDO:0009192 Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure. https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5723 WRS Wolcott-Rallison syndrome early-onset diabetes mellitus with multiple epiphyseal dysplasia IDDM-MED syndrome Iddm-Med syndrome MED-IDDM syndrome Med-Iddm syndrome Wolcott Rallison syndrome epiphyseal dysplasia multiple with early-onset diabetes mellitus epiphyseal dysplasia, multiple, with early-onset diabetes mellitus Wolcott-Rallison syndrome https://rarediseases.info.nih.gov/diseases/5589/epiphyseal-dysplasia-multiple-with-early-onset-diabetes-mellitus MONDO:0009193 epithelial squamous dysplasia, keratinizing desquamative, of urinary tract epithelial squamous dysplasia, keratinizing desquamative, of urinary tract MONDO:0009194 A rare progressive disease that begins as a primary Epstein-Barr virus (EBV) infection. In this type of infection, the body makes too many lymphocytes (lymphoproliferative disease) for a period of more than 6 months duration. Lymphocytes are a type of white blood cell. They are an importantpart ofthe immune system because they help fight off diseases and protect the body from infection byproducing antibodies against viruses or bacteria and regulating immune responses. In CAEBV there are many antibodies againstEBV in the blood.Most people (about 95% of adults) get infected with EBV at some point in their lives, and never have any health problems.However, EBV can cause infectiousmononucleosis and other illnesses, and has a role in various autoimmune diseases and some types of cancer. While most infections occurring during childhood do not cause any symptoms,EBV infection in adolescents or young adults can often result in mononucleosis.After an EBV infection, the virus becomes latent (inactive) in the body, and, in some cases, the virus may reactivate. This does not always cause symptoms, but people with weakened immune systems are more likely to develop symptoms if EBV reactivates.In rare cases, people infected with EBV develop chronic active EBV virus infection(CAEBV) without apparent immunodeficiency. Most cases of CAEBV have been reported from Japan. These patientshave some of the complications found in otherwise-healthy patients with acute EBV infection, but unlike healthy patients, these complications persist and progress. Symptoms of CAEBV most often include fever, liverdysfunction, an enlarged spleen (splenomegaly), swollen lymph nodes (lymphadenopathy), and low numbers of platelets (thrombocytopenia) as well as high EBV-DNA load in the blood. Other features that appear in more than 10% of patients include enlarged liver (hepatomegaly), anemia, hypersensitivity to mosquito bites, rash, oral ulcers, hemophagocytic syndrome, coronary artery aneurysms, liver failure, lymphoma, and interstitial pneumonia. While the cause is yet unknown, researchers have identified defects in T cells or natural killer (NK) cells activity which results in a decreased defense against the EBV in people with CAEBV.It is important to note that the fatigue and malaise from acute infectious mononucleosis (IM)varies from mild symptoms lasting only a few weeks, to more severe symptoms of fatigue that can persist for several months, or even up to a year or more in up to 10% of patients (which may be considered a less severe form of chronicEBV infection). The persistence of fatigue that is seen in some patients after acute IM would lead some people to believe that EBV may also cause cases of chronic fatigue syndrome (CFS). However, no convincing link has been found between EBV and CFS.Hematopoietic stemcell transplantation has shown promise in the treatment of CAEBV. https://github.com/monarch-initiative/mondo/issues/4521 CAEBV syndrome IMD32B IRF8 deficiency, autosomal recessive chronic EBV infection syndrome chronic Epstein-Barr virus infection syndrome immunodeficiency 32B immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive immunodeficiency 32B, monocyte, Dendritic cell, and natural Killer cell deficiency, autosomal recessive monocyte and dendritic cell deficiency, autosomal recessive CAEBV infection CEBV Epstein-Barr VIRUS, susceptibility to chronic infection by chronic active Epstein-Barr disease chronic active Epstein-Barr virus infection immunodeficiency 32B https://rarediseases.info.nih.gov/diseases/9534/chronic-active-epstein-barr-virus-infection MONDO:0009195 erythema of acral regions erythema of acral regions MONDO:0009196 A rare deafness characterized by the association of bilateral sensorineural hearing loss and white hair with scattered black tufts, as well as skin areas of hyper- and hypopigmentation. Additional reported features include global developmental delay and moderate intellectual disability, growth retardation, microcephaly, hypotonia, mild dysmorphic facial features (deeply set eyes, broad nasal bridge, slight bowing of the upper lip), retinal depigmentation, anomalies of the fingers and toes, and white matter abnormalities on brain imaging. O'Doherty syndrome ermine phenotype pigmentary disorder with hearing loss BADS BADS syndrome black locks with albinism and deafness syndrome black locks, oculocutaneous albinism, and deafness of the sensorineural type ermine phenotype https://rarediseases.info.nih.gov/diseases/407/ermine-phenotype MONDO:0009197 An acquired pure red cell aplasia that is self-limited. It is the most common cause of decreased red blood cell production in the pediatric population, and typically presents as a normocytic anemia with reticulocytopenia in an otherwise asymptomatic and normal child with no evidence of other causes for anemia, including blood loss, hemolysis, nutritional deficiency, or malignancy. transient acquired pure red cell aplasia transient erythroblastopenia of childhood erythroblastopenia, transient familial transient erythroblastopenia of childhood tec transient erythroblastopenia of childhood https://rarediseases.info.nih.gov/diseases/7793/transient-erythroblastopenia-of-childhood MONDO:0009198 A rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992. congenital exfoliative erythroderma resistant to treatment erythroderma lethal congenital erythroderma, lethal congenital lethal congenital erythroderma congenital lethal erythroderma https://rarediseases.info.nih.gov/diseases/2192/erythroderma-lethal-congenital MONDO:0009199 ethanolaminosis ethanolamine kinase deficiency ethanolaminosis MONDO:0009200 Eyebrow duplication-syndactyly syndrome is characterised by partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes, and abnormal periorbital wrinkling were also reported in some of the patients. Transmission is autosomal recessive. eyebrows duplication of, with stretchable skin and syndactyly eyebrows, DUPLICATION of, with stretchable skin and syndactyly eyebrow duplication-syndactyly syndrome MONDO:0009201 facial abnormalities, kyphoscoliosis, and intellectual disability facial abnormalities, kyphoscoliosis, and mental retardation facial abnormalities, kyphoscoliosis, and intellectual disability MONDO:0009202 Dysmorphism-multiple structural anomalies syndrome Dysmorphism multiple structural anomalies dysmorphic facial features and multiple structural abnormalities facial dysmorphism with multiple malformations Thakker-Donnai syndrome https://rarediseases.info.nih.gov/diseases/5158/thakker-donnai-syndrome MONDO:0009203 Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis. FFDD type III FFDD3 Setleis syndrome focal facial dermal dysplasia 3, Setleis type focal facial dermal dysplasia type III FFDD type 2 bitemporal forceps Marks syndrome bitemporal forceps marks syndrome facial ectodermal dysplasia focal Facial dermal dysplasia, type II focal Facial dermal dysplasia, type II, formerly focal facial dermal dysplasia type 2 focal facial dermal dysplasia type III MONDO:0009204 Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome. faciocardiomelic dysplasia lethal faciocardiomelic dysplasia, lethal lethal faciocardiomelic dysplasia https://rarediseases.info.nih.gov/diseases/2229/faciocardiomelic-dysplasia-lethal MONDO:0009205 Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. Eastman-Bixler syndrome faciocardiorenal syndrome Eastman Bixler syndrome faciocardiorenal syndrome https://rarediseases.info.nih.gov/diseases/2230/faciocardiorenal-syndrome MONDO:0009206 Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the LMAN1 gene. https://github.com/monarch-initiative/mondo/issues/4521 LMAN1 combined deficiency of factor V and factor VIII combined deficiency of factor V and factor VIII caused by mutation in LMAN1 combined factor V and VIII deficiency factor 5 and Factor VIII, combined deficiency of, 1 factor V and factor VIII, combined deficiency of, type 1 F5F8D1 FMFD 1 factor V and factor VIII, combined deficiency of, 1 familial multiple coagulation Factor deficiency 1 multiple coagulation Factor deficiency 1 factor V and factor VIII, combined deficiency of, type 1 MONDO:0009207 factor V and Factor VIII, combined deficiency of, with normal protein c and Protein C inhibitor factor 5 and Factor VIII, combined deficiency Of, with normal Protein C and Protein C inhibitor factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor MONDO:0009208 faciothoracogenital syndrome congenital anomalies, involving mainly the face, thorax, and genitalia facio thoraco genital syndrome faciothoracogenital syndrome MONDO:0009209 Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum. Aarskog-like syndrome Teebi-Naguib-Alawadi syndrome facio-digito-genital syndrome, Kuwait type Kuwait type faciodigitogenital syndrome faciodigitogenital syndrome, autosomal recessive autosomal recessive faciodigitogenital syndrome MONDO:0009210 Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms. https://github.com/monarch-initiative/mondo/issues/5537 Owren disease Parahemophilia Proaccelerin deficiency congenital factor V deficiency deficiency, labile hereditary Factor V deficiency hereditary factor V deficiency hereditary hypoproaccelerinaemia labile factor deficiency Owren Parahemophilia factor 5 deficiency factor V deficiency labile Factor deficiency congenital factor V deficiency https://rarediseases.info.nih.gov/diseases/2237/factor-v-deficiency MONDO:0009211 Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor. https://github.com/monarch-initiative/mondo/issues/4069 congenital factor VII deficiency congenital proconvertin deficiency hypoproconvertinemia F7 deficiency factor 7 deficiency factor VII deficiency congenital factor VII deficiency MONDO:0009212 Congenital factor X deficiency is an inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms. https://github.com/monarch-initiative/mondo/issues/4069 Stuart-Prower factor deficiency congenital Stuart factor deficiency congenital factor X deficiency disease, Stuart-Prower hereditary Factor X deficiency F10 deficiency Stuart factor deficiency, congenital Stuart-Prower Factor deficiency factor 10 deficiency factor X deficiency factor X deficiency, congenital congenital factor X deficiency MONDO:0009213 Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA. FA3 FACC FANCC Fanconi Anemia, complementation group type C Fanconi anemia complementation group C Fanconi anemia complementation group type C Fanconi pancytopenia type 3 Fanconi anemia, complementation group C Fanconi pancytopenia, type 3 facc Fanconi anemia complementation group C MONDO:0009214 Fanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing. FA4 FAD2 FANCD2 Fanconi anemia complementation group D2 Fanconi pancytopenia type 4 Fad2 Fanconi Anemia, complementation group D Fanconi anemia, complementation group D2 Fanconi pancytopenia, type 4 Fanconi anemia complementation group D2 MONDO:0009215 Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway. https://github.com/monarch-initiative/mondo/issues/4948 FANCA FANCA Fanconi anemia Fanconi Anemia, complementation group type a Fanconi anemia caused by mutation in FANCA Fanconi anemia complementation group A Fanconi anemia complementation group type A Estren-Dameshek variant of Fanconi Anemia Estren-Dameshek variant of Fanconi pancytopenia Fanconi Anemia Fanconi Anemia, Estren-Dameshek variant Fanconi anemia, complementation group A Fanconi anemia complementation group A MONDO:0009216 Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism. https://github.com/monarch-initiative/mondo/issues/4985 Bickel-Fanconi glycogenosis FBS Fanconi Bickel syndrome Fanconi syndrome with intestinal malabsorption and galactose intolerance Fanconi-Bickel disease Fanconi-Bickel syndrome GSD due to GLUT2 deficiency glycogen storage disease due to GLUT2 deficiency glycogenosis due to GLUT2 deficiency GLUT2 deficiency GSD type 11 GSD type XI glycogen storage disease 11 glycogen storage disease XI glycogen storage disease type 11 glycogen storage disease type XI glycogenosis Fanconi EXACT glycogenosis, Fanconi type hepatic glycogenosis with Fanconi nephropathy hepatic glycogenosis with amino aciduria and glucosuria hepatorenal glycogenosis with renal Fanconi syndrome hepatorenal glycogenosis with renal fanconi syndrome pseudo-phlorizin diabetes glycogen storage disease due to GLUT2 deficiency https://rarediseases.info.nih.gov/diseases/2268/fanconi-bickel-syndrome MONDO:0009217 A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies. Fanconi-like syndrome Fanconi-like syndrome MONDO:0009218 A rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement. Farber disease Farber lipogranulomatosis N-LAURYLSPHINGOSINE deacylase deficiency acid ceramidase deficiency AC deficiency FRBRL Farber's disease N-Laurylsphingosine deacylase deficiency ceramidase deficiency Farber lipogranulomatosis MONDO:0009219 fascial dystrophy, congenital fascial dystrophy, congenital MONDO:0009220 https://github.com/monarch-initiative/mondo/issues/4069 visceral steatosis, congenital White liver disease fatal neonatal hepatic steatosis fatty liver disease, congenital fatty metamorphosis of viscera steatosis of liver visceral steatosis visceral steatosis, congenital MONDO:0009221 Femur-fibula-ulna (FFU) complex is a non-lethal congenital anomaly of unknown etiology, more frequently reported in males than females, characterized by a highly variable combination of defects of the femur, fibula, and/or ulna, with striking asymmetry, including absence of the proximal part of the femur, absence of the fibula and malformation of the ulnar side of the upper limb. Axial skeleton, internal organs and intellectual function are usually normal. https://github.com/monarch-initiative/mondo/issues/4948 FFU complex PFFD femur-fibula-ulna dysostosis femur-fibula-ulna syndrome Ffu syndrome femur fibula ulna syndrome femur-fibula-ulna complex MONDO:0009222 Gollop-Wolfgang complex is a very rare malformation characterized by ectrodactyly of the hand and ipsilateral bifurcation of the femur. https://github.com/monarch-initiative/mondo/issues/4948 Gollop-Wolfgang complex bifid femur-monodactylous ectrodactyly syndrome GWC femur bifid with monodactylous ectrodactyly femur, unilateral bifid, with monodactylous ectrodactyly Gollop-Wolfgang complex MONDO:0009223 Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the LHB gene. 46,XY DSD due to LHB deficiency 46,XY DSD due to luteinizing hormone subunit beta deficiency 46,XY disorder of sex development due to LHB deficiency 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency LHB hypogonadotropic hypogonadism Leydig cell hypoplasia due to LHB deficiency Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency Pasqualini syndrome fertile eunuch syndrome hypogonadotropic hypogonadism caused by mutation in LHB HH23 eunuchoidism with spermatogenesis, normal FSH and low or normal interstitial cell-stimulating hormone (ICSH) hypogonadotropic hypogonadism 23 without anosmia hypogonadotropic hypogonadism 23 with or without anosmia MONDO:0009224 Fetal iodine syndrome refers to symptoms and signs that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (insufficient or excessive) amounts of iodine. Iodine deficiency is associated with goiter and hypothyroidism. When severe iodine deficiency occurs during pregnancy, it is associated with congenital hypothyroidism that is manifested by increased neonatal morbi-mortality and severe mental dysfunction, hyperactivity, attention disorders and a substantial decrease of IQ of an irreversible nature. Excessive iodine ingestion during the third trimester of pregnancy can result in hypothyroidism and fetal goiter due to a prolonged inhibition of thyroid hormone synthesis, an increase in thyrotropin (TSH). FIDD endemic cretinism fetal iodine deficiency disorder fetal iodine syndrome https://rarediseases.info.nih.gov/diseases/2304/fetal-iodine-syndrome MONDO:0009225 fever, familial lifelong persistent fever, familial lifelong persistent MONDO:0009226 Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A1 gene. https://github.com/monarch-initiative/mondo/issues/4948 COL11A1 fibrochondrogenesis fibrochondrogenesis 1 fibrochondrogenesis caused by mutation in COL11A1 fibrochondrogenesis type 1 FBCG1 fibrochondrogenesis 1 MONDO:0009227 Any myofibromatosis in which the cause of the disease is a mutation in the PDGFRB gene. PDGFRB myofibromatosis myofibromatosis caused by mutation in PDGFRB myofibromatosis, infantile, 1 myofibromatosis, infantile, type 1 IMF1 fibromatosis, congenital generalized myofibromatosis, juvenile myofibromatosis, infantile, 1 MONDO:0009228 Gingival fibromatosis - facial dysmorphism is a very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. fibromatosis, gingival, with distinctive facies gingival fibromatosis with craniofacial dysmorphism gingival fibromatosis with distinctive facies gingival fibromatosis-facial dysmorphism syndrome https://rarediseases.info.nih.gov/diseases/10528/gingival-fibromatosis-with-distinctive-facies MONDO:0009229 hyaline fibromatosis syndrome HFS hyalinosis, systemic infantile systemic hyalinosis (former subtype) inherited systemic hyalinosis juvenile hyaline fibromatosis (former subtype) hyaline fibromatosis syndrome MONDO:0009230 fibrosclerosis, multifocal mediastinal fibrosis, familial multifocal fibrosclerosis retroperitoneal fibrosis, familial fibrosclerosis, multifocal MONDO:0009231 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 Du Pan syndrome acromesomelic dysplasia 2B fibular hypoplasia and complex brachydactyly fibular aplasia-complex brachydactyly syndrome acromesomelic dysplasia 2B https://rarediseases.info.nih.gov/diseases/9879/fibular-hypoplasia-and-complex-brachydactyly MONDO:0009232 Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly. https://github.com/monarch-initiative/mondo/issues/4948 Fuhrmann syndrome Fuhrmann-Rieger-de Sousa syndrome fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome bowing of the femurs, aplasia or hypoplasia of the fibula, and digital anomalies fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly Fuhrmann syndrome https://rarediseases.info.nih.gov/diseases/2410/fuhrmann-syndrome MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait. Saito-Kuba-Tsuruta syndrome FIBULOULNAR aplasia or hypoplasia with renal abnormalities Fibulo ulnar hypoplasia renal anomalies Saito Kuba Tsuruta syndrome Fibulo-ulnar hypoplasia-renal anomalies syndrome MONDO:0009234 A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis. https://github.com/monarch-initiative/mondo/issues/4521 high molecular weight kininogen deficiency kininogen deficiency Fitzgerald trait Fitzgerald trait kininogen deficiency, total, included Flaujeac factor deficiency Flaujeac trait Flaujeac trait, included HMWK HMWK deficiency Williams trait Williams trait, included high-molecular-weight kininogen deficiency, congenital kininogen deficiency, high molecular weight kininogen deficiency, high molecular weight and LOW molecular weight, included kininogen deficiency, high molecular weight and Low molecular weight kininogen deficiency, total congenital high-molecular-weight kininogen deficiency https://rarediseases.info.nih.gov/diseases/2684/high-molecular-weight-kininogen-deficiency MONDO:0009235 Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits. https://github.com/monarch-initiative/mondo/issues/4521 fleck retina, familial benign FLECK retina, familial benign FRFB familial benign flecked retina MONDO:0009236 Kandori fleck retina is a rare, genetic retinal dystrophy characterized by irregular, sharply defined, yellowish-white lesions of variable size that are distributed mainly in the nasal equatorial region of the retina, with a tendency to confluence, that are not associated with any vascular or optic nerve abnormalities. They frequently manifest as mild and stationary night blindness. FLECK retina of KANDORI Kandori fleck retina MONDO:0009237 Hyperplasia characterized by the presence of a focal proliferation of epithelial cells. heck disease heck's disease multifocal epithelial hyperplasia FEH, oral focal epithelial hyperplasia, oral focal epithelial hyperplasia MONDO:0009238 Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders. congenital folate malabsorption congenital defect of folate absorption folate malabsorption, hereditary folic acid transport defect hereditary folate malabsorption https://rarediseases.info.nih.gov/diseases/12983/hereditary-folate-malabsorption MONDO:0009239 Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FSHB gene. FSHB hypogonadotropic hypogonadism hypogonadotropic hypogonadism 24 without anosmia hypogonadotropic hypogonadism caused by mutation in FSHB isolated FSH deficiency isolated follicle-stimulating hormone deficiency HH24 follicle-stimulating hormone deficiency, isolated isolated follicle stimulating hormone deficiency isolated follicle-stimulating hormone (FSH) deficiency hypogonadotropic hypogonadism 24 without anosmia MONDO:0009240 Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anemia. FTCD deficiency formiminoglutamic aciduria formiminotransferase cyclodeaminase deficiency glutamate formiminotransferase deficiency Arakawa syndrome 1 Figlu-Uria Formiminoglutamicaciduria (FIGLU-Uria) formiminoglutamic acidemia formiminotransferase deficiency formiminotransferase deficiency syndrome formiminoglutamic aciduria MONDO:0009241 Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. https://github.com/monarch-initiative/mondo/issues/5588 deafness-skeletal dysplasia-coarse face with full lips syndrome deafness-skeletal dysplasia-lip granuloma syndrome fountain syndrome deafness, skeletal dysplasia, lip granuloma intellectual disability, deafness, skeletal abnormalities, coarse face with full lips intellectual disability, sensorineural deafness, skeletal abnormalities, and coarse face with full lips mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips fountain syndrome https://rarediseases.info.nih.gov/diseases/64/fountain-syndrome MONDO:0009242 Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility. brittle cornea syndrome brittle cornea syndrome type 1 kyphoscoliosis type type VIB Ehlers-Danlos syndrome brittle cornea syndrome 2 BCS1 EDS VIB (formerly) Ehlers-Danlos syndrome type 6B (formerly) Ehlers-Danlos syndrome type 6b brittle cornea syndrome 1 brittle cornea syndrome https://rarediseases.info.nih.gov/diseases/1019/brittle-cornea-syndrome MONDO:0009243 Fraser-like syndrome Fused eyelids, airway anomalies, ovarian cysts, and digital anomalies Fraser-like syndrome MONDO:0009244 Freesia Flowers, inability to smell Freesia Flowers, inability to smell MONDO:0009246 https://github.com/monarch-initiative/mondo/issues/4069 Friedreich ataxia and congenital glaucoma Friedreich ataxia and congenital glaucoma MONDO:0009247 Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes). Gollop syndrome frontofacionasal dysplasia Ffnd Frontofacionasal dysostosis fronto-facio-nasal dyplasia fronto-facio-nasal dysostosis frontofacionasal dysplasia https://rarediseases.info.nih.gov/diseases/2390/frontofacionasal-dysplasia MONDO:0009248 fructose and galactose intolerance fructose and galactose intolerance MONDO:0009249 Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism, resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated. https://github.com/monarch-initiative/mondo/issues/4985 Fructosaemia fructose intolerance fructose-1,6-bisphosphate aldolase B deficiency fructosemia hereditary fructose intolerance hereditary fructose intolerance syndrome hereditary fructose-1-phosphate aldolase deficiency hereditary fructosemia Aldob deficiency aldolase B deficiency fructose intolerance, hereditary fructose-1-phosphate aldolase deficiency hereditary fructose intolerance MONDO:0009251 Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants. https://github.com/monarch-initiative/mondo/issues/4985 fructose 1 phosphate aldolase deficiency fructose-1,6-bisphosphatase deficiency fructose-1,6-diphosphatase deficiency FBP1D baker-Winegrad disease fructose 1,6 diphosphatase deficiency fructose-1,6-bisphosphatase deficiency MONDO:0009252 Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4985 fructokinase deficiency fructosuria, essential ketohexokinase deficiency hepatic fructokinase deficiency essential fructosuria MONDO:0009253 Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations. https://github.com/monarch-initiative/mondo/issues/5588 Fryns syndrome diaphragmatic hernia-abnormal face-distal limb anomalies syndrome FRNS Moerman Van den Berghe Fryns syndrome diaphragmatic hernia, abnormal face, and distal limb anomalies Fryns syndrome https://rarediseases.info.nih.gov/diseases/3699/fryns-syndrome MONDO:0009254 Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis. https://github.com/monarch-initiative/mondo/issues/4948 A-fucosidase deficiency Alpha-L-fucosidase deficiency alpha fucosidase deficiency fucosidosis lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues fucosidosis https://rarediseases.info.nih.gov/diseases/6473/fucosidosis MONDO:0009255 Galactokinase deficiency is a rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4985 GALK deficiency GALK-D galactokinase deficiency galactokinase deficiency galactosemia galactokinase deficiency with cataracts galactosemia II galactosemia type 2 Galk deficiency galactosemia 2 hereditary galactokinase deficiency galactokinase deficiency https://rarediseases.info.nih.gov/diseases/2422/galactokinase-deficiency MONDO:0009256 Excessive or inappropriate lactation in females or males, and not necessarily related to pregnancy. Galactorrhea can occur either unilaterally or bilaterally, and be profuse or sparse. Its most common cause is hyperprolactinemia. galactorrhea (disease) galactorrhea galactorrhea (disease) galactorrhea MONDO:0009257 Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism. GALE deficiency GALE-D UDP-galactose-4-epimerase deficiency epimerase deficiency galactosemia galactose epimerase deficiency galactosemia type 3 uridine diphosphate galactose-4-epimerase deficiency Gale deficiency galactosemia 3 galactose epimerase deficiency https://rarediseases.info.nih.gov/diseases/5392/galactose-epimerase-deficiency MONDO:0009258 Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease. https://github.com/monarch-initiative/mondo/issues/4985 https://github.com/monarch-initiative/mondo/issues/5834 GALT deficiency classic galactosemia galactose-1-phosphate uridyltransferase deficiency galactosemia type 1 classical galactosemia, homozygous duarte-type Galt deficiency galactose-1-phosphate uridylyltransferase deficiency galactosemia galactosemia, Duarte variant galactosemia, classic transferase deficiency classic galactosemia MONDO:0009259 Gamma-glutamylcysteine synthetase deficiency is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4985 gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to glutamate-cysteine ligase deficiency hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency inborn error of glutamate-cysteine ligase activity inborn glutamate-cysteine ligase activity disorder rare inborn error of glutamate-cysteine ligase activity gamma-glutamylcysteine synthetase deficiency MONDO:0009260 GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis with variable neurological and systemic manifestations. https://github.com/monarch-initiative/mondo/issues/4948 Norman-Landing disease infantile GM1 gangliosidosis Beta galactosidase deficiency type 1 Beta-galactosidase-1 deficiency GLB deficiency type 1 GM1-gangliosidosis, type 1 GM1-gangliosidosis, type I GM1-gangliosidosis, type I, with Cardiac involvement Glb1 deficiency gangliosidosis generalized GM1 infantile form gangliosidosis generalized GM1 type 1 gangliosidosis, generalized GM1, infantile form gangliosidosis, generalized GM1, type 1 gangliosidosis, generalized GM1, type I, with Cardiac involvement GM1 gangliosidosis type 1 https://rarediseases.info.nih.gov/diseases/6479/gm1-gangliosidosis-type-1 MONDO:0009261 GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis characterized by normal early development and psychomotor regression between seven months and three years of age. juvenile GM1 gangliosidosis late-infantile GM1 gangliosidosis GM1-gangliosidosis, type 2 GM1-gangliosidosis, type II gangliosidosis generalized GM1 juvenile type gangliosidosis generalized GM1 type 2 gangliosidosis, generalized GM1, juvenile type gangliosidosis, generalized GM1, late-infantile type gangliosidosis, generalized GM1, type 2 GM1 gangliosidosis type 2 https://rarediseases.info.nih.gov/diseases/10126/gm1-gangliosidosis-type-2 MONDO:0009262 GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis characterized by onset generally during childhood or adolescence and by cerebellar dysfunction. adult-onset GM1 gangliosidosis Beta-galactosidase deficiency type 3 GM1-gangliosidosis, type 3 GM1-gangliosidosis, type III adult GM1 gangliosidosis gangliosidosis GM1 type 3 gangliosidosis generalized GM1 chronic type gangliosidosis, generalized GM1, adult type gangliosidosis, generalized GM1, chronic type gangliosidosis, generalized GM1, type 3 GM1 gangliosidosis type 3 https://rarediseases.info.nih.gov/diseases/2431/gm1-gangliosidosis-type-3 MONDO:0009263 A multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations https://github.com/monarch-initiative/mondo/issues/5588 Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome gapo syndrome Growth retardation, alopecia, pseudoanodontia and optic atrophy Growth retardation, alopecia, pseudoanodontia, and optic atrophy GAPO syndrome https://rarediseases.info.nih.gov/diseases/400/gapo-syndrome MONDO:0009264 Gastroschisis is marked by viscera protruding, without a covering sac, from the fetal abdomen on the right lateral base of the umbilicus. It is due to defective embryo growth and other malformations are only exceptionally associated. eventration gastroschisis laparoschisis abdominal wall defects congenital fissure of the abdominal cavity gastroschisis https://rarediseases.info.nih.gov/diseases/8661/gastroschisis MONDO:0009265 Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia. GD I Gaucher disease type I Gaucher disease, noncerebral juvenile Gaucher's disease type I Gba deficiency acid Beta-glucosidase deficiency non-cerebral juvenile Gaucher disease Gaucher disease type 1 Gaucher disease, type 1 Gaucher disease, type I Gd 1 Gaucher disease type I MONDO:0009266 Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2. GD II Gaucher disease type II Gaucher disease, acute neuronopathic type Gaucher's disease type II acute neuronopathic Gaucher disease infantile cerebral Gaucher disease Gaucher disease type 2 Gaucher disease, infantile cerebral Gaucher disease, type 2 Gaucher disease, type II Gd 2 Gaucher disease type II MONDO:0009267 Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1. GD III Gaucher disease type III Gaucher disease, Subacute neuronopathic type Gaucher disease, chronic neuronopathic type Gaucher disease, juvenile and adult, cerebral Gaucher disease, subacute neuronopathic type Gaucher's disease type III cerebral juvenile and adult form of Gaucher disease chronic neuronopathic Gaucher disease Gaucher disease type 3 Gaucher disease, Norrbottnian type Gaucher disease, type 3 Gaucher disease, type 3A Gaucher disease, type 3B Gaucher disease, type III Gd 3 Gaucher disease type III MONDO:0009268 Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement. Gaucher disease type 3C Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher-like disease cardiovascular Gaucher disease Gaucher disease - ophthalmoplegia - cardiovascular calcification Gaucher disease, type 3C Gaucher disease, type IIIC pseudo Gaucher disease Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome MONDO:0009269 Any geleophysic dysplasia in which the cause of the disease is a mutation in the ADAMTSL2 gene. https://github.com/monarch-initiative/mondo/issues/4948 ADAMTSL2 geleophysic dysplasia Geleophysic dysplasia type 1 geleophysic dysplasia 1 geleophysic dysplasia caused by mutation in ADAMTSL2 GELEOPHYSIC dysplasia 1 GPHYSD1 geleophysic dysplasia 1 MONDO:0009270 Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies. Gardner-Silengo-Wachtel syndrome GENITOPALATOCARDIAC syndrome Male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal Cardiac defect genito palato cardiac syndrome genito-palato-cardiac syndrome https://rarediseases.info.nih.gov/diseases/2460/genito-palato-cardiac-syndrome MONDO:0009271 Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit. https://github.com/monarch-initiative/mondo/issues/4948 geroderma osteodysplastica GERODERMA OSTEODYSPLASTICUM GO Geroderma osteodysplasticum Gerodermia osteodysplastica Walt Disney dwarfism geroderma osteodysplastica https://rarediseases.info.nih.gov/diseases/413/geroderma-osteodysplastica MONDO:0009272 German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987. German syndrome German syndrome MONDO:0009273 Any complete hydatidiform mole in which the cause of the disease is a mutation in the NLRP7 gene. NLRP7 complete hydatidiform mole complete hydatidiform mole caused by mutation in NLRP7 hydatidiform Mole, recurrent, type 1 hydatidiform mole, recurrent, 1 HYDM1 gestational trophoblastic disease hydatidiform MOLE, recurrent, 1 hydatidiform Mole, complete hydatidiform mole hydatidiform mole, recurrent, 1 MONDO:0009274 Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 Ghosal hematodiaphyseal syndrome Ghosal syndrome diaphyseal dysplasia-anemia syndrome ghosal hematodiaphyseal dysplasia GHDD GHOSAL hematodiaphyseal dysplasia Ghosal hematodiaphyseal dysplasia syndrome ghosal hematodiaphyseal dysplasia https://rarediseases.info.nih.gov/diseases/10297/ghosal-hematodiaphyseal-dysplasia-syndrome MONDO:0009275 Neonatal hemochromatosis is a disease in which too much iron builds up inthe body. In this form of hemochromatosis the iron overload begins before birth. This disease tends to progress rapidly and is characterized by liver damage that is apparent at birth or in the first day of life. There are a number of other forms of hemochromatosis. To learn more about these other forms click on the disease names listed below: Hemochromatosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4 Nh Nhc alloimmune Hepatitis, congenital giant cell Hepatitis giant cell Hepatitis (formerly) giant cell Hepatitis, formerly hemochromatosis neonatal hemochromatosis, neonatal idiopathic neonatal hemochromatosis neonatal Hepatitis neonatal Hepatitis, formerly neonatal hepatitis (formerly) neonatal hemochromatosis https://rarediseases.info.nih.gov/diseases/7172/neonatal-hemochromatosis MONDO:0009276 Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination. https://github.com/monarch-initiative/mondo/issues/4521 Bernard - Soulier thrombopathy Bernard Soulier syndrome Bernard-Soulier syndrome Bernard-Soulier syndrome, type A1 (recessive) Hemorrhagiparous thrombocytic dystrophy giant platelet disorder, isolated giant platelet syndrome hemorrhagic dystrophic thrombocytopenia thrombopathy, Bernard-Soulier BSS Bernard-Soulier syndrome, type A1 Bernard-Soulier syndrome, type B Bernard-Soulier syndrome, type C Platelet glycoprotein 1b, deficiency of Platelet glycoprotein Ib deficiency Von Willebrand Factor receptor deficiency bleeding disorder, Platelet-type, 1 deficiency of platelet glycoprotein 1b giant platelet disease glycoprotein Ib, Platelet, deficiency of macrothrombocytopenia, familial Bernard-Soulier type Bernard-Soulier syndrome MONDO:0009277 An autosomal recessive form of congenital glaucoma caused by mutation(s) in the CYP1B1 gene, encoding cytochrome P450 1B1. https://github.com/monarch-initiative/mondo/issues/4521 buphthalmos Primary Congenital glaucoma 3A glaucoma 3, primary congenital, type a glaucoma 3A, primary open angle, congenital, juvenile, or adult onset simple buphthalmos GLC3A glaucoma 3, primary congenital, A glaucoma, congenital glaucoma, primary open angle, adult-onset glaucoma, primary open angle, juvenile-onset glaucoma 3A MONDO:0009279 Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration. 2A syndrome 3A syndrome 4A syndrome AAA syndrome Allgrove syndrome Double A syndrome achalasia-addisonianism-alacrima syndrome achalasia-addisonianism-alacrimia syndrome adrenal insufficiency-achalasia-alacrima syndrome quaternary A syndrome triple-a syndrome AAA AAAS ACTH-resistant adrenal insufficiency, achalasia and alacrima Addisonian achalasia syndrome Addisonian-achalasia syndrome achalasia addisonianism alacrimia syndrome achalasia alacrima syndrome achalasia-alacrima syndrome alacrima-achalasia-addisonianism alacrima-achalasia-adrenal insufficiency neurologic disorder glucocorticoid deficiency and achalasia hypoadrenalism with achalasia triple A syndrome triple-A syndrome https://rarediseases.info.nih.gov/diseases/457/triple-a-syndrome MONDO:0009280 monosodium glutamate sensitivity Chinese restaurant syndrome monosodium glutamate sensitivity MONDO:0009281 Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4985 GA1 GCDHD glutaric acidemia type 1 glutaric aciduria type 1 glutaric aciduria, type 1 glutaricaciduria, type I glutaryl-CoA dehydrogenase deficiency glutaryl-coenzyme A dehydrogenase deficiency Ga 1 glutaric acidemia 1 glutaric acidemia I glutaric acidemia type I glutaric acidemia, type 1 glutaric aciduria 1 glutaric aciduria type I glutaryl-CoA dehydrogenase deficiency MONDO:0009282 A disorder of fatty acid and amino acid oxidation, caused by mutations in ETFDH, ETFA, or ETFB, and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4691 MAD deficiency MADD electron transfer flavoprotein deficiency electron transfer flavoprotein ubiquinone oxidoreductase deficiency glutaric acidemia type 2 glutaric acidemia type II glutaric aciduria type 2 glutaric aciduria, type 2 multiple acyl Coenzyme A dehydrogenase deficiency multiple acyl-CoA dehydrogenase deficiency Etfa deficiency Etfb deficiency Etfdh deficiency glutaric acidemia 2A glutaric acidemia 2B glutaric acidemia 2C glutaric acidemia IIA glutaric acidemia IIB glutaric acidemia IIC EMA Ga 2 ethylmalonic-Adipicaciduria glutaric acidemia 2 glutaric aciduria 2 Also known as glutaric acidemia II. Referenced from Glutaric aciduria, type I (231670). multiple acyl-CoA dehydrogenase deficiency MONDO:0009283 Glutaryl-CoA oxidase deficiency is a peroxisomal disorder leading to glutaric aciduria. The prevalence is unknown. There is no distinctive phenotype associated with this disorder and one of the reported cases was asymptomatic. Transmission appears to be autosomal recessive. https://github.com/monarch-initiative/mondo/issues/4985 SUGCT glutaric aciduria (disease) glutaric acidemia type 3 glutaric aciduria (disease) caused by mutation in SUGCT glutaric aciduria type 3 glutaryl-CoA oxidase deficiency GA III GA3 Ga 3 glutaric acidemia type III glutaric aciduria 3 glutaric aciduria III glutaric aciduria type III glutaryl-Coa oxidase deficiency glutaric acidemia type 3 https://rarediseases.info.nih.gov/diseases/12469/glutaric-acidemia-type-iii MONDO:0009284 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4985 hemolytic anemia due to glutathione synthetase deficiency GSSDE glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to glutathione synthetase deficiency without 5-oxoprolinuria MONDO:0009285 Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4985 glutathioninuria glutathionuria inborn error of glutathione hydrolase activity inborn glutathione hydrolase activity disorder rare inborn error of glutathione hydrolase activity GGT deficiency GGT1 deficiency GTG deficiency gamma-glutamyltransferase deficiency gamma-glutamyltranspeptidase deficiency gamma-glutamyl transpeptidase deficiency MONDO:0009286 gluteal muscles, absence of absence of gluteal muscle congenital absence of gluteal muscles gluteal muscle, absence of gluteal muscles, absence of https://rarediseases.info.nih.gov/diseases/8518/absence-of-gluteal-muscle MONDO:0009287 Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency. https://github.com/monarch-initiative/mondo/issues/4985 G6P deficiency type 1a G6PC glycogen storage disease GSD due to G6P deficiency type 1a GSD due to G6P deficiency type Ia GSD type 1a GSDIa glycogen storage disease caused by mutation in G6PC glycogen storage disease due to G6P deficiency type Ia glycogen storage disease type 1a glycogen storage disease type Ia glycogenosis due to glucose-6-phosphatase deficiency type 1a glycogenosis due to glucose-6-phosphatase deficiency type Ia glycogenosis type Ia GSD Ia GSD1 GSD1A Von Gierke disease glucose-6-phosphatase deficiency glucose-6-phosphatase deficiency glycogen storage disease glycogen storage disease 1 glycogen storage disease 1A glycogen storage disease Ia hepatorenal form of glycogen storage disease hepatorenal glycogenosis glycogen storage disease due to glucose-6-phosphatase deficiency type IA MONDO:0009288 A type of glycogenosis due to G6P deficiency. https://github.com/monarch-initiative/mondo/issues/4985 G6P deficiency type IB G6P translocase deficiency G6PT deficiency GSD Ib GSD due to G6P deficiency type IB GSD due to G6PT deficiency GSD type 1 non a GSD type 1b GSD type IB GSD1B GSDIb glucose-6-phosphate transport defect glycogen storage disease Ib glycogen storage disease Ic glycogen storage disease due to G6P deficiency type IB glycogen storage disease type 1b glycogen storage disease type I non-a glycogen storage disease type IB glycogen storage disease type Ic glycogenosis due to glucose-6-phosphatase deficiency type 1B glycogenosis due to glucose-6-phosphatase transport defect type IB glycogenosis type 1b glycogenosis type IB GSD Ic GSD1C Gsd1C Editor note: TODO decide whether to merge Ic glycogen storage disease Ib MONDO:0009290 Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal. Alpha-1,4-glucosidase acid deficiency GAA glycogen storage disease GSD due to acid maltase deficiency GSD type 2 GSD type II Pompe disease Pompe's disease acid maltase deficiency deficiency of glucoamylase deficiency of maltase generalized glycogenosis glycogen storage disease II glycogen storage disease caused by mutation in GAA glycogen storage disease type 2 glycogen storage disease type II glycogen storage disease, type II glycogenosis due to acid maltase deficiency glycogenosis type 2 glycogenosis type II glycogenosis, type 2 lysosomal alpha-1,4-glucosidase deficiency Aglucosidase alfa Alpha-1,4-glucosidase deficiency Cardiomegalia Glycogenica diffusa GAA deficiency GSD 2 GSD II GSD2 acid maltase deficiency disease deficiency of alpha-glucosidase deficiency of lysosomal alpha-glucosidase glucosidase acid-1,4-alpha deficiency glycogen storage disease 2 glycogen storage disease due to acid maltase deficiency glycogenosis, generalized, Cardiac form glycogen storage disease II MONDO:0009291 Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy. https://github.com/monarch-initiative/mondo/issues/4985 AGL glycogen storage disease Cori disease Cori-Forbes disease Forbes disease GDE deficiency GSD due to glycogen debranching enzyme deficiency GSD type 3 GSDIII amylo 1,6 glucosidase deficiency amylo-1,6-glucosidase deficiency deficiency of debranching enzyme deficiency of dextrin glycogen storage disease III glycogen storage disease caused by mutation in AGL glycogen storage disease type 3 glycogen storage disease type III glycogen storage disease, type III glycogenosis due to glycogen debranching enzyme deficiency glycogenosis type 3 glycogenosis type III limit dextrinosis Agl deficiency GSD3 Gde deficiency glycogen Debrancher deficiency glycogen storage disease 3 glycogen storage disease IIIC glycogen storage disease IIID glycogen storage disease IIIa glycogen storage disease IIIb glycogen storage disease due to glycogen debranching enzyme deficiency glycogen storage disease III MONDO:0009292 Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases. Andersen disease Andersen's disease GBE1 glycogen storage disease GSD due to glycogen branching enzyme deficiency GSD type 4 GSD type IV amylopectinosis brancher deficiency glycogenosis branching-transferase deficiency glycogenosis deficiency of 1,4-alpha-glucan branching enzyme glycogen storage disease caused by mutation in GBE1 glycogen storage disease due to glycogen branching enzyme deficiency glycogen storage disease type 4 glycogen storage disease type IV glycogen storage disease, type IV glycogenosis due to glycogen branching enzyme deficiency glycogenosis type 4 glycogenosis type IV GSD 4 GSD IV GSD IV, classic hepatic GSD IV, neuromuscular form, adult, with isolated myopathy GSD IV, neuromuscular form, childhood GSD IV, neuromuscular form, congenital GSD IV, neuromuscular form, fatal perinatal GSD IV, nonprogressive hepatic GSD4 Gbe1 deficiency brancher deficiency cirrhosis, familial, with deposition of abnormal glycogen glycogen branching enzyme deficiency glycogen storage disease 4 glycogen storage disease IV glycogenosis 4 glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0009293 Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance. https://github.com/monarch-initiative/mondo/issues/4985 GSD due to muscle glycogen phosphorylase deficiency GSD type 5 GSD type V McArdle disease McArdle's disease PYGM glycogen storage disease glycogen storage disease V glycogen storage disease caused by mutation in PYGM glycogen storage disease type 5 glycogen storage disease type V glycogen storage disease, type V glycogenosis due to muscle glycogen phosphorylase deficiency glycogenosis type 5 glycogenosis type V myophosphorylase deficiency GSD 5 GSD5 McArdle type glycogen storage disease Mcardle disease Pygm deficiency glycogen storage disease 5 glycogen storage disease due to muscle glycogen phosphorylase deficiency muscle glycogen phosphorylase deficiency glycogen storage disease V MONDO:0009294 Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease. https://github.com/monarch-initiative/mondo/issues/4985 GSD due to liver glycogen phosphorylase deficiency GSD type 6 GSD type VI PYGL glycogen storage disease glycogen storage disease VI glycogen storage disease caused by mutation in PYGL glycogen storage disease type 6 glycogen storage disease type VI glycogenosis due to liver glycogen phosphorylase deficiency glycogenosis type 6 glycogenosis type VI hepatic glycogen phosphorylase deficiency hepatic phosphorylase deficiency hepatophosphorylase deficiency glycogenosis hers disease hers' disease liver glycogen phosphorylase deficiency GSD 6 GSD6 glycogen storage disease 6 glycogen storage disease due to liver glycogen phosphorylase deficiency phosphorylase deficiency glycogen-storage disease of liver glycogen storage disease VI MONDO:0009295 Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood. https://github.com/monarch-initiative/mondo/issues/4985 GSD due to muscle phosphofructokinase deficiency GSD type 7 GSD type VII GSDVII PFKM glycogen storage disease Tarui disease glycogen storage disease VII glycogen storage disease caused by mutation in PFKM glycogen storage disease type 7 glycogen storage disease type VII glycogen storage disease, type VII glycogenosis due to muscle phosphofructokinase deficiency glycogenosis type 7 glycogenosis type VII phosphofructokinase deficiency phosphofructokinase myopathy GSD 7 GSD7 Pfkm deficiency glycogen storage disease 7 glycogen storage disease due to muscle phosphofructokinase deficiency muscle phosphofructokinase deficiency glycogen storage disease VII MONDO:0009296 glycoprotein storage disease glycoprotein storage disorder glycoprotein storage disease MONDO:0009297 Familial Renal Glucosuria (FRG) is characterized by the presence of persistent isolated glucosuria in the absence of both generalized proximal tubular dysfunction and hyperglycemia. FRG is usually considered a benign entity as most patients are not affected by severe clinical consequences. Polyuria and enuresis and later a mild growth and pubertal maturation delay are the only manifestations that have been reported during a follow-up period of 30 years. Episodic dehydration and ketosis during pregnancy and starvation and an increased incidence of urinary tract infections have occasionally been reported in severe cases. FRG is caused by loss-of-function mutations in the gene SLC5A2 (16p11.2). https://github.com/monarch-initiative/mondo/issues/4985 SGLT2 deficiency familial renal glucosuria renal diabetes GLYS Glys1 glycosuria, renal renal glucosuria renal glycosuria familial renal glucosuria https://rarediseases.info.nih.gov/diseases/7548/renal-glycosuria MONDO:0009298 GOMBO syndrome Growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia GOMBO syndrome MONDO:0009299 46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation. 46,XX complete gonadal dysgenesis 46,XX gonadal dysgenesis 46,XX ovarian dysgenesis 46,XX pure gonadal dysgenesis FSH-RO XX female gonadal dysgenesis XX-GD follicular stimulating hormone-resistant ovaries hypergonadotropic ovarian dysgenesis XX gonadal dysgenesis ovarian dysgenesis 46 XX gonadal dysgenesis MONDO:0009300 Any Perrault syndrome in which the cause of the disease is a mutation in the HSD17B4 gene. HSD17B4 Perrault syndrome Perrault syndrome 1 Perrault syndrome caused by mutation in HSD17B4 Perrault syndrome type 1 PRLTS1 gonadal dysgenesis, 20 type, with deafness ovarian dysgenesis with sensorineural deafness Perrault syndrome 1 MONDO:0009301 https://github.com/monarch-initiative/mondo/issues/4521 46,XY Sex reversal type 7 46,XY sex reversal 7 46XY sex reversal 7 46,XY SEX reversal 7 46,XY Sex reversal, partial or complete, Dhh-related 46,XY gonadal dysgenesis, partial or complete, Dhh-related SRXY7 gonadal dysgenesis, XY, Male-limited 46,XY sex reversal 7 MONDO:0009302 Gonadal dysgenesis with multiple anomalies is an association syndrome described only once in two sisters aged 1 1/2 and 8 1/2 years. They had a 46,XY karyotype, cleft lip and palate, preauricular pits, and a 'squashed down' appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal, and ectodermal anomalies were also present. Ectodermal defects included 'punched out scalp defects' and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay. The mode of inheritance is most likely autosomal recessive. gonadal dysgenesis XY type associated anomalies gonadal dysgenesis, 10Y type, with associated anomalies gonadal dysgenesis, XY type, with associated anomalies XY type gonadal dysgenesis-associated anomalies syndrome https://rarediseases.info.nih.gov/diseases/2541/gonadal-dysgenesis-xy-type-associated-anomalies MONDO:0009303 An autoimmune disease that affects the lungs and kidneys and is characterized by pulmonary alveolar hemorrhage (bleeding in the lungs) and a kidney disease known as glomerulonephritis. Some use the term 'Goodpasture syndrome' for the findings of glomerulonephritis and pulmonary hemorrhage and the term 'Goodpasture disease' for those patients with glomerulonephritis, pulmonary hemorrhage, and anti-GBM antibodies. Currently, the preferred term for both conditions is “ anti-GBM antibody disease ”. Circulating antibodies are directed against the collagen of the part of the kidney known as the glomerular basement membrane (GBM), resulting in acute or rapidly progressive glomerulonephritis. Antibodies also attack the collagen of the air sacs of the lung (alveoli) resulting in bleeding of the lung (pulmonary hemorrhage). Symptoms may include general body discomfort or pain, bleeding from the nose and/or blood in the urine, respiratory problems, anemia, chest pain, and kidney failure. Anti-GBM disease is thought to result from an environmental insult (smoking, infections, exposure to certain drugs) in a person with genetic susceptibility, such as a specific human leukocyte antigen (HLA) type. Diagnosis is confirmed with the presence of anti-GBM antibody in the blood or in the kidney. The treatment of choice is plasmapheresis in conjunction with prednisone and cyclophosphamide. Goodpasture syndrome anti-GBM syndrome anti-glomerular basement membrane disease anti-glomerular basement membrane antibody disease glomerulonephritis - pulmonary hemorrhage pulmonary renal syndrome rapidly progressive glomerulonephritis with pulmonary hemorrhage anti-glomerular basement membrane disease https://rarediseases.info.nih.gov/diseases/2551/goodpasture-syndrome MONDO:0009305 https://github.com/monarch-initiative/mondo/issues/4521 granulocytopenia with immunoglobulin abnormality immunodeficiency 59 and hypoglycemia granulocytopenia with immunoglobulin abnormality MONDO:0009306 CID due to RAG 1/2 deficiency combined immunodeficiency due to RAG 1/2 deficiency CCHIDG combined cellular and humoral immune defects with granulomas combined immunodeficiency with skin granulomas MONDO:0009307 granulomatous disease with defect in neutrophil chemotaxis granulomatous disease with defect in neutrophil chemotaxis MONDO:0009308 https://github.com/monarch-initiative/mondo/issues/4521 chronic granulomatous disease 4, autosomal recessive granulomatous disease, chronic, autosomal recessive, cytochrome b-negative CGD due to deficiency of the Alpha Subunit of cytochrome B CGD, autosomal recessive cytochrome B-negative Cyba deficiency granulomatous disease, chronic, autosomal recessive, cytochrome b-negative MONDO:0009309 Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF1 gene. https://github.com/monarch-initiative/mondo/issues/4521 NCF1 chronic granulomatous disease chronic granulomatous disease 1, autosomal recessive chronic granulomatous disease caused by mutation in NCF1 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 CDG1 CGD, autosomal recessive cytochrome B-positive, type 1 Ncf1, deficiency of Soc2, deficiency of granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type I granulomatous disease, chronic, due to Ncf1 deficiency neutrophil cytosol Factor 1, deficiency of p47-PHOX, deficiency of soluble oxidase component II, deficiency of granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 MONDO:0009310 Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF2 gene. https://github.com/monarch-initiative/mondo/issues/4521 NCF2 chronic granulomatous disease chronic granulomatous disease 2, autosomal recessive chronic granulomatous disease caused by mutation in NCF2 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 CDG2 CGD, autosomal recessive cytochrome B-positive, type 2 Ncf2, deficiency of P67-PHOX, deficiency of granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type II granulomatous disease, chronic, due to Ncf2 deficiency neutrophil cytosol Factor 2, deficiency of granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 MONDO:0009311 grouped pigmentation of the retina grouped pigmentation of retinal pigment epithelium grouped pigmentation of the macula grouped pigmentation of the retina MONDO:0009312 Deficiency of the peptidic growth factors is characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk). Hoepffner-Dreyer-Reimers syndrome Werner-like syndrome due to combined growth factor deficiency combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency Hoepffner Dreyer Reimers syndrome Werner-like syndrome due to combined Growth Factor deficiency growth factors, combined defect OF insulin, insulin-like Growth Factor I, and Epidermal Growth Factor deficiency peptide growth factors deficiency peptidic growth factors deficiency lipodystrophy due to peptidic growth factors deficiency MONDO:0009313 Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by pre- and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency have also been reported in some patients. https://github.com/monarch-initiative/mondo/issues/5588 developmental delay-hypotonia-extremities hypertrophy syndrome Grubben de Cock Borghgraef syndrome developmental delay - hypotonia - extremities hypertrophy growth retardation, small and puffy hands and feet, and eczema severe growth retardation, developmental delay with hypotonia, hypotrophy of the distal extremities, dental anomalies, and eczematous skin Grubben-de Cock-Borghgraef syndrome https://rarediseases.info.nih.gov/diseases/2576/grubben-de-cock-borghgraef-syndrome MONDO:0009315 Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions. https://github.com/monarch-initiative/mondo/issues/4069 Hageman Factor deficiency congenital Hageman factor deficiency congenital factor XII deficiency deficiency, Hageman factor XII deficiency disease F12 deficiency Haf deficiency coagulation factor 12 deficiency factor 12 deficiency factor XII deficiency congenital factor XII deficiency https://rarediseases.info.nih.gov/diseases/6558/factor-xii-deficiency MONDO:0009318 Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases. https://github.com/monarch-initiative/mondo/issues/4948 FranC'ois dyscephalic syndrome Francois dyscephalic syndrome François dyscephalic syndrome Hallerman - Streiff syndrome Hallermann syndrome Hallermann's syndrome Hallermann-Streiff syndrome oculomandibulofacial syndrome HSS Hallermann Streiff Francois syndrome Hallermann Streiff syndrome Hallermann-Streiff syndrome https://rarediseases.info.nih.gov/diseases/288/hallermann-streiff-syndrome MONDO:0009319 Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system. Hallervorden-Spatz disease Hallervorden-Spatz syndrome NBIA1 PKAN brain iron accumulation type I syndrome neurodegeneration with brain iron accumulation 1 neurodegeneration with brain iron accumulation type 1 pantothenate kinase-associated neurodegeneration pigmentary pallidal degeneration Pkan neuroaxonal dystrophy, juvenile-onset neuroaxonal dystrophy, late infantile pantothenate kinase-associated neurodegeneration MONDO:0009320 Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit. https://github.com/monarch-initiative/mondo/issues/5588 HALL-Riggs intellectual disability syndrome HALL-Riggs mental retardation syndrome Hall Riggs intellectual disability syndrome Hall Riggs mental retardation syndrome Hall-Riggs syndrome MONDO:0009321 Hallux varus-preaxial polysyndactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980. Kleiner-Holmes syndrome Kleiner Holmes syndrome hallux varus and preaxial polysyndactyly hallux varus-preaxial polysyndactyly syndrome MONDO:0009323 Halothane hepatitis Halothane hepatitis MONDO:0009324 Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine). https://github.com/monarch-initiative/mondo/issues/4985 Hartnup disease Hartnup disorder aminoaciduria, Hartnup type deficiency of tryptophan oxygenase neutral 1 amino acid transport defect neutral amino acid transport defect HND Hartnup disease https://rarediseases.info.nih.gov/diseases/6569/hartnup-disease MONDO:0009326 Heart block that occurs on or before 28 days of life. https://github.com/monarch-initiative/mondo/issues/4069 congenital atrioventricular block heart block, congenital congenital heart block https://rarediseases.info.nih.gov/diseases/6164/congenital-heart-block MONDO:0009327 heart, malformation of heart, malformation of MONDO:0009328 hemangiomatosis, cutaneous, with associated features hemangiomatosis, cutaneous, with associated features MONDO:0009329 A rare form of pulmonary arterial hypertension (PAH) characterized by a capillary infiltration of the pulmonary interstitium, bronchioles and pleura leading to elevated pulmonary arterial resistance and right heart failure. PCH is potentially fatal. pulmonary capillary hemangiomatosis PVOD2 familial pulmonary capillary hemangiomatosis hemangiomatosis, familial pulmonary capillary pulmonary venoocclusive disease 2, autosomal recessive pulmonary venoocclusive disease 2 MONDO:0009330 An uncommon malignant neoplasm arising from pericytes. Distinction between benign and malignant hemangiopericytoma may be difficult or even impossible on morphologic grounds alone. hemangiopericytoma, malignant malignant hemangiopericytoma hemangiopericytoma, malignant MONDO:0009331 Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma and hepoblastoma. https://github.com/monarch-initiative/mondo/issues/4521 Hemicorporal hypertrophy hemi 3 syndrome hemihypertrophy isolated hemihypertrophy IH hemi-3 syndrome hemihyperplasia hemihyperplasia, isolated hemihypertrophy, isolated isolated hemihyperplasia MONDO:0009332 A disorder of the blood that is present at birth. https://github.com/monarch-initiative/mondo/issues/4069 congenital hematological disorder congenital hematological system disease congenital hematological disorder MONDO:0009333 Mullerian derivatives-lymphangiectasia-polydactyly syndrome is characterised by prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, postaxial polydactyly and cryptorchidism. Mullerian duct remnants, lymphangiectasis, and renal anomalies are also present. Three cases have been described. A small penis was observed in two of these cases. The syndrome is likely to be an autosomal recessive or X-linked trait. All the reported patients died neonatally of hepatic failure. MULLERIAN derivatives, persistence of, with lymphangiectasia and postaxial polydactyly Müllerian derivatives-lymphangiectasia-polydactyly syndrome Urioste syndrome persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly renal and craniofacial anomalies with persistence of mullerian derivatives, lymphangiectasis, hepatic failure, postaxial polydactyly mullerian derivatives-lymphangiectasia-polydactyly syndrome MONDO:0009334 hemolytic anemia with thermal sensitivity of red cells hemolytic anemia with thermal sensitivity of red cells MONDO:0009335 https://github.com/monarch-initiative/mondo/issues/4521 hemolytic uremic syndrome, atypical, susceptibility to hemolytic uremic syndrome, atypical, susceptibility to, 1 hemolytic uremic syndrome, atypical, susceptibility to, type 1 AHUS1 Ahus, susceptibility to, 1 hemolytic uremic syndrome, typical susceptibility to atypical hemolytic uremic syndrome 1 hemolytic uremic syndrome, atypical, susceptibility to, 1 MONDO:0009336 hemosiderosis, pulmonary, with deficiency of gamma-a globulin hemosiderosis, pulmonary, with deficiency of gamma-a globulin MONDO:0009337 Any Hennekam syndrome in which the cause of the disease is a mutation in the CCBE1 gene. CCBE1 Hennekam syndrome Hennekam lymphangiectasia-lymphedema syndrome 1 Hennekam lymphangiectasia-lymphedema syndrome type 1 Hennekam syndrome caused by mutation in CCBE1 HKLLS1 Hennekam lymphangiectasia-lymphedema syndrome lymphatic dysplasia, generalized Hennekam lymphangiectasia-lymphedema syndrome 1 MONDO:0009338 Hepatic veno-occlusive disease-immunodeficiency syndrome is characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease. VODI syndrome VODI familial veno-occlusive disease with immunodeficiency hepatic veno-occlusive disease with immunodeficiency hepatic venoocclusive disease with immunodeficiency veno-occlusive disease and immunodeficiency syndrome hepatic veno-occlusive disease-immunodeficiency syndrome https://rarediseases.info.nih.gov/diseases/10083/hepatic-venoocclusive-disease-with-immunodeficiency MONDO:0009339 Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins. https://github.com/monarch-initiative/mondo/issues/4069 AKR1D1 congenital bile acid synthesis defect BASD2 CBAS2 bile acid synthesis defect, congenital, type 2 cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency congenital bile acid synthesis defect caused by mutation in AKR1D1 congenital bile acid synthesis defect type 2 bile acid synthesis defect, congenital, 2 cholestasis with Delta(4)-3-oxosteroid 5-Beta-reductase deficiency congenital bile acid synthesis defect, type 2 congenital bile acid synthesis defect 2 MONDO:0009340 Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare conditionmainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe. Some affected individuals reportedly have had various abnormalities in addition to NSHA including multiple malformations, panmyelopathy, and latent diabetes.Itcan be caused by mutations in the HK1 gene and is inherited in an autosomal recessive manner. Treatment may include red cell transfusions for those with severe anemia. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4985 hemolytic anemia due to hexokinase deficiency hemolytic anemia, nonspherocytic, due to hexokinase deficiency hexokinase deficiency hemolytic anemia nonspherocytic hemolytic anemia due to hexokinase deficiency non-spherocytic hemolytic anemia due to hexokinase deficiency https://rarediseases.info.nih.gov/diseases/3672/nonspherocytic-hemolytic-anemia-due-to-hexokinase-deficiency MONDO:0009341 Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations. Hirschsprung disease intellectual disability syndrome Hirschsprung disease mental retardation syndrome Hirschsprung disease-intellectual disability syndrome Mowat-Wilson syndrome microcephaly, intellectual disability, and distinct facial featrues, with or without Hirschprung disease microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease Hirschsprung disease-mental retardation syndrome MOWS intellectual disability, microcephaly, and distinct facial features with or without Hirschsprung disease mental retardation, microcephaly, and distinct facial features with or without Hirschsprung disease microcephaly, intellectual disability, and distinct Facial features, with or without Hirschsprung disease microcephaly, mental retardation, and distinct Facial features, with or without Hirschsprung disease Mowat-Wilson syndrome https://rarediseases.info.nih.gov/diseases/9673/mowat-wilson-syndrome MONDO:0009342 An extremely rare malformative association, described in only two siblings to date, and characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to the symptoms of intestinal obstruction including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988. https://github.com/monarch-initiative/mondo/issues/551 Santos-Mateus-Leal syndrome Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness Hirschsprung disease with polydactyly, renal agenesis, and deafness Hirschsprung disease, deafness and polydactyly Hirschsprung disease-deafness-polydactyly syndrome Santos Mateus Leal syndrome Hirschsprung disease-hearing loss-polydactyly syndrome MONDO:0009343 Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect Hirschsprung disease polydactyly heart disease Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect https://rarediseases.info.nih.gov/diseases/2696/hirschsprung-disease-polydactyly-heart-disease MONDO:0009344 Hirschsprung disease - nail hypoplasia - dysmorphism is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions of Hirschsprung disease - nail hypoplasia - dysmorphism syndrome in the literature since 1988. Al Gazali-Donnai-Muller syndrome Al-Gazali-Donnai-Mueller syndrome Hirschsprung disease with hypoplastic nails and dysmorphic facial features Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features Hirschsprung disease-nail hypoplasia-dysmorphism syndrome MONDO:0009345 Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4985 HIS deficiency Hal deficiency Histidinuria histidase deficiency histidine ammonia-lyase deficiency histidinemia histidinuria hyperhistidinemia histidinemia https://rarediseases.info.nih.gov/diseases/6661/histidinemia MONDO:0009346 https://github.com/monarch-initiative/mondo/issues/4985 histidinuria due to a renal tubular defect histidinuria-renal tubular defect syndrome histidinuria due to a renal tubular defect MONDO:0009347 histiocytosis, familial lipochrome familial lipochrome histiocytosis MONDO:0009348 Classical Hodgkin lymphoma (CHL) is a B-cell lymphoma characterized histologically by the presence of large mononuclear Hodgkin cells and multinucleated Reed-Sternberg (HRS) cells. https://github.com/monarch-initiative/mondo/issues/4521 classic Hodgkin disease classical Hodgkin lymphoma classical Hodgkin's lymphoma Chl Hodgkin disease Hodgkin lymphoma, susceptibility to lymphoma, Hodgkin, classic classic Hodgkin lymphoma MONDO:0009349 The most severe form of holoprosencephaly in which there is a complete absence of midline forebrain division resulting in the presence of fused hemispheres and a single ventricle (alobar holoprosencephaly). It is mapped to chromosome 21q22. https://github.com/monarch-initiative/mondo/issues/4521 Hpe, familial cyclopia HPE1 holoprosencephaly 1 holoprosencephaly 1, isolated cases holoprosencephaly type 1 Demyer sequence arhinencephaly holoprosencephaly, familial Alobar isolated arhinencephaly holoprosencephaly 1 MONDO:0009350 A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects. Holzgreve Wagner Rehder syndrome Holzgreve syndrome cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome Complex congenital heart defect, renal agenesis and cleft lip and palate Holzgreve-Wagner-Rehder syndrome MONDO:0009351 Homocarnosinosis is a metabolic defect characterised by progressive spastic diplegia, intellectual deficit and retinitis pigmentosa. This extremely rare disorder has been reported in only one family, namely a woman and three of her children. The latter showed progressive spastic diplegia, mental retardation and retinitis pigmentosa but their mother was symptom free. It is therefore uncertain whether there is a relationship between the biochemical defect and the clinical symptoms. Inheritance in the reported family seems to be autosomal dominant. https://github.com/monarch-initiative/mondo/issues/4985 Homocarnosinase deficiency homocarnosinosis homocarnosinosis MONDO:0009352 Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system. https://github.com/monarch-initiative/mondo/issues/4521 classic homocystinuria cystathionine beta-synthase deficiency homocystinuria due to cystathionine beta-synthase deficiency homocystinuria, B6-responsive and nonresponsive types thrombosis, hyperhomocysteinemic CBS deficiency homocystinuria due to CBS deficiency homocystinuria with or without response to pyridoxine hyperhomocysteinemia, thrombotic, CBS-related classic homocystinuria https://rarediseases.info.nih.gov/diseases/6667/homocystinuria-due-to-cbs-deficiency MONDO:0009353 Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations. MTHFR deficiency homocystinuria due to methylene tetrahydrofolate reductase deficiency methylene tetrahydrofolate reductase deficiency 5,10 alpha methylenetetrahydro-folate reductase deficiency 5,10-alpha-methylenetetrahydro-folate reductase deficiency Homocysteinemia due to methylenetetrahydro-folate reductase deficiency Homocysteinuria due to methylenetetrahydro-folate reductase deficiency MTHFR deficiency, thermolabile type Methylenetetrahydro-folate reductase deficiency homocystinuria due to MTHFR deficiency homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity methylenetetrahydrofolate reductase deficiency homocystinuria due to methylene tetrahydrofolate reductase deficiency MONDO:0009354 An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia. https://github.com/monarch-initiative/mondo/issues/4521 functional methionine synthase deficiency type cblE homocystinuria-megaloblastic anemia, cbl e type methylcobalamin deficiency type cblE HMAE homocystinuria due to defect in methylation Cbl e homocystinuria-megaloblastic Anemia due to defect in cobalamin metabolism, cblE complementation type homocystinuria-megaloblastic anemia, cblE complementation type methylcobalamin deficiency, cblE type methylmalonic aciduria and homocystinuria type cblE vitamin B12-responsive homocystinuria, cblE type methylcobalamin deficiency type cblE MONDO:0009355 Hooft disease delayed physical development, erythematosquamous eruption, opaque leukonychia, intellectual disability, and low serum lipids Hooft disease https://rarediseases.info.nih.gov/diseases/9702/hooft-disease MONDO:0009356 Autosomal recessive form of humeroradial synostosis (disease). autosomal recessive humeroradial synostosis (disease) humeroradial synostosis (disease), autosomal recessive humeroradial synostosis humeroradial/multiple synostosis syndrome autosomal recessive humeroradial synostosis MONDO:0009357 humeroradial synostosis with craniofacial anomalies humeroradial synostosis with craniofacial anomalies MONDO:0009358 Hutterite cerebroosteonephrodysplasia syndrome cerebroosteonephosis syndrome cond Hutterite cerebroosteonephrodysplasia syndrome https://rarediseases.info.nih.gov/diseases/9956/hutterite-cerebroosteonephrodysplasia-syndrome MONDO:0009359 MARCH syndrome hydranencephaly with renal aplasia-dysplasia MARCH multinucleated neurons, anhydramnios, renal dysplasia, cerebellar Hypoplasia, and hydranencephaly multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome MONDO:0009360 Any congenital hydrocephalus in which the cause of the disease is a mutation in the CCDC88C gene. https://github.com/monarch-initiative/mondo/issues/4521 CCDC88C congenital hydrocephalus congenital hydrocephalus caused by mutation in CCDC88C hydrocephalus, congenital, 1 hydrocephalus, nonsyndromic, autosomal recessive 1 hydrocephalus, nonsyndromic, autosomal recessive type 1 HYC1 hydrocephaly ventriculomegaly hydrocephalus, nonsyndromic, autosomal recessive 1 MONDO:0009361 hydrocephalus due to congenital stenosis of aqueduct of Sylvius aqueductal stenosis autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius MONDO:0009362 Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities. game-Friedman-Paradice syndrome game Friedman Paradice syndrome hydrocephalus with associated malformations retarded growth, hydrocephalus, micrognathia, intestinal malrotation, omphalocele, short lower limbs and foot deformities growth delay-hydrocephaly-lung hypoplasia syndrome MONDO:0009363 Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989. Daish-Hardman-Lamont syndrome Daish Hardman Lamont syndrome hydrocephalus, tall stature, JOINT laxity, and kyphoscoliosis hydrocephalus, tall stature, joint laxity and kyphoscoliosis hydrocephaly - tall stature - joint laxity hydrocephaly-tall stature-joint laxity syndrome MONDO:0009364 An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death. https://github.com/monarch-initiative/mondo/issues/4069 muscle-eye-brain-POMT1 related muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1 MDDGA1 Walker-Warburg syndrome or muscle-eye-brain disease, Pomt1-related cerebroocular dysplasia-muscular dystrophy syndrome cod-MD syndrome hard syndrome hydrocephalus, agyria, and retinal dysplasia muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 MONDO:0009365 Any hydrolethalus syndrome in which the cause of the disease is a mutation in the HYLS1 gene. https://github.com/monarch-initiative/mondo/issues/4521 hydrolethalus syndrome HYLS1 hydrolethalus syndrome hydrolethalus syndrome 1 hydrolethalus syndrome caused by mutation in HYLS1 hydrolethalus syndrome type 1 HLS1 hydrolethalus syndrome 1 MONDO:0009366 A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see gait disorders, neurologic), progressive intellectual decline, and urinary incontinence. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of csf including subarachnoid hemorrhage, chronic meningitis, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3) https://github.com/monarch-initiative/mondo/issues/4521 NPH chronic adult hydrocephalus hydrocephalus, normal pressure, 1 low pressure hydrocephalus hydrocephalus, normal-pressure normal pressure hydrocephalus MONDO:0009367 McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations. Kaufman-Mckusick syndrome McKusick-Kaufman syndrome hydrometrocolpos-postaxial polydactyly syndrome HMCS Kaufman McKusick syndrome MCKUSICK-Kaufman syndrome MKKS McKusick Kaufman syndrome hydrometrocolpos syndrome hydrometrocolpos, postaxial polydactyly, and congenital heart malformation McKusick-Kaufman syndrome https://rarediseases.info.nih.gov/diseases/3427/mckusick-kaufman-syndrome MONDO:0009368 urofacial syndrome type 1 Ochoa syndrome UFS1 facial palsy, partial, with urinary abnormalities hydronephrosis with peculiar Facial expression inverted smile and occult neuropathic bladder urofacial syndrome urofacial syndrome 1 urofacial syndrome type 1 MONDO:0009369 Non-immune hydrops fetalis (NIHF), a form of HF, is a severe fetal condition defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities, and is the end-stage of a wide variety of disorders. non-immune HF non-immune fetal edema non-immune fetal hydrops Hemoglobin H hydrops fetalis syndrome NIHF hydrops fetalis, Alpha-thalassemia-related hydrops fetalis, nonimmune non-immune hydrops fetalis MONDO:0009370 L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy. L-2-HGA L-2-hydroxyglutaric acidemia L-2-hydroxyglutaric aciduria L2HGA L-2-hydroxyglutaric aciduria https://rarediseases.info.nih.gov/diseases/10472/l-2-hydroxyglutaric-aciduria MONDO:0009371 3 hydroxyisobutyric aciduria is characterised by ketoacidotic episodes, cerebral anomalies and facial dysmorphism. It is an organic aciduria that involves valine metabolism. Thirteen cases have been described in the literature so far. Transmission is thought to be autosomal recessive. 3-hydroxyisobutyric aciduria disorder of valine metabolism 3-hydroxyisobutyric aciduria https://rarediseases.info.nih.gov/diseases/5662/3-hydroxyisobutyric-aciduria MONDO:0009372 Encephalopathy due to hydroxykynureninuria is characterised by psychomotor retardation and nonprogressive encephalopathy associated with urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine, and xanthurenic acid. It has been described in less than 30 patients. Other manifestations may include muscular hypertonia, headaches and stereotyped gestures. This disorder is transmitted as an autosomal recessive trait. It is caused by a defect in kynureninase, an enzyme of the tryptophane catabolic pathway. Xanthurenic aciduria kynureninase deficiency hydroxykynureninuria kynureninase deficiency, partial encephalopathy due to hydroxykynureninuria MONDO:0009373 Seizures-intellectual disability due to hydroxylysinuria syndrome is characterised by hydroxylysinuria, myoclonic and motor seizures and intellectual deficit. It has been described in a brother and sister born to consanguineous parents and in one unrelated patient. hydroxylysinuria seizures-intellectual disability due to hydroxylysinuria syndrome MONDO:0009374 hydroxyprolinemia (disease) Hydroxyprolinemia hydroxyprolinemia hydroxyprolinemia (disease) 4 alpha hydroxy-L-proline oxidase deficiency 4-hydroxy-L-proline oxidase deficiency HYDROXYPROLINEMIA hydroxyprolinemia MONDO:0009375 hymen, imperforate hymen, imperforate MONDO:0009376 Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4985 CPS I deficiency CPS1 deficiency CPS1D carbamoyl phosphate synthetase I deficiency disease carbamoyl phosphate synthetase deficiency carbamoyl-phosphate synthase carbamoyl-phosphate synthetase I deficiency carbamoyl-phosphate synthetase deficiency carbamoylphosphate synthetase I deficiency deficiency disease CPS 1 deficiency carbamoyl phosphate synthetase 1 deficiency carbamoyl phosphate synthetase 1 deficiency, hyperammonemia due to carbamoyl phosphate synthetase I deficiency, hyperammonemia due to carbamoyl-phosphate synthetase 1 deficiency carbamyl phosphate synthetase (CPS) deficiency hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency carbamoyl phosphate synthetase I deficiency disease MONDO:0009377 N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia. https://github.com/monarch-initiative/mondo/issues/4985 NAGS deficiency hyperammonemia due to N-acetylglutamate synthase deficiency N-acetyl glutamate synthetase deficiency N-acetylglutamate synthase deficiency N-acetylglutamate synthetase deficiency NAG synthetase deficiency NAGSD Nags deficiency hyperammonemia due to N-acetylglutamate synthetase deficiency hyperammonemia due to N-acetylglutamate synthase deficiency MONDO:0009378 Hyperbetaalaninemia is a very rare metabolic condition.Hyperbetaalaninemia refers to thebuild-upof protein building blocks, called beta amino acids, in the body. The excess beta amino acidsare neurotoxic to the body. Signs and symptoms of hyperbetaalaninemia includeconvulsions (rapid and uncontrollable shaking), lethargy, and encephalopathy.Hyperbetaalaninemia is thought to be due to a loss ofa functional form of the enzyme,beta-alanine-alpha-ketoglutarate transaminase.Treatment with oral pyridoxine wasdemonstrated to be helpful in one case. hyper-beta-alaninemia hyperalaninemia hyperbetaalaninemia hyper-beta-alaninemia https://rarediseases.info.nih.gov/diseases/10267/hyperbetaalaninemia MONDO:0009379 Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology. https://github.com/monarch-initiative/mondo/issues/4521 Rotor syndrome hyperbilirubinemia, Rotor type hyperbilirubinemia, rotor type, digenic HBLRR Rotor-type hyperbilirubinemia hyperbilirubinemia, ROTOR type Rotor syndrome https://rarediseases.info.nih.gov/diseases/218/rotor-syndrome MONDO:0009380 Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells. Dubin Johnson syndrome Dubin-Johnson syndrome Dubin-Sprinz disease Sprinz-Nelson syndrome chronic idiopathic jaundice hyperbilirubinemia type 2 DJS conjugated hyperbilirubinemia hyperbilirubinemia 2 hyperbilirubinemia, Dubin-Johnson type Dubin-Johnson syndrome MONDO:0009381 hyperbilirubinemia, conjugated, type III hyperbilirubinemia, conjugated, type 3 MONDO:0009382 PSHB hyperbilirubinemia, shunt, primary hyperbilirubinemia, shunt, primary MONDO:0009383 https://github.com/monarch-initiative/mondo/issues/4521 Lucey-Driscoll syndrome hyperbilirubinemia, familial transient neonatal HBLRTFN breast milk jaundice hyperbilirubinemia transient familial neonatal hyperbilirubinemia, transient familial neonatal transient familial hyperbilirubinemia transient familial neonatal hyperbilirubinemia https://rarediseases.info.nih.gov/diseases/2791/hyperbilirubinemia-transient-familial-neonatal MONDO:0009384 Any Leydig cell hypoplasia in which the cause of the disease is a mutation in the LHCGR gene. https://github.com/monarch-initiative/mondo/issues/4521 LHCGR Leydig cell hypoplasia Leydig cell hypoplasia caused by mutation in LHCGR leydig cell hypoplasia with hypergonadotropic hypogonadism leydig cell hypoplasia with pseudohermaphroditism Leydig cell Hypoplasia, type 2 Leydig cell agenesis Leydig cell hypoplasia with male pseudohermaphroditism Leydig cell hypoplasia, complete Leydig cell hypoplasia, partial Leydig cell hypoplasia, type I hypergonadotropic hypogonadism, Male, due to Lhcgr defect luteinizing hormone resistance, female Leydig cell hypoplasia, type 1 MONDO:0009385 hyperleucine-Isoleucinemia hyperleucine-Isoleucinemia MONDO:0009386 https://github.com/monarch-initiative/mondo/issues/4484 hyperlexia compulsive reading precocious reading hyperlexia MONDO:0009387 Familial lipoprotein lipase deficiency is a rare genetic disorder is which a person lacks the enzyme lipoprotein lipase, a protein needed to break down fat molecules. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats. This results in the accumulation of fatty droplets called chylomicrons in the blood and an increase in the blood concentration of triglycerides. Symptoms include episodes of abdominal pain, recurrent inflammation of the pancreas (pancreatitis), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as erruptive xanthomas. Familial lipoprotein lipase deficiency is caused by changes (mutations) in the LPL gene. It is inherited in an autosomal recessive pattern. Treatment aims to control symptoms and blood triglyceride levels with a very low-fat diet. Treatment for individual symptoms (i.e. pancreatitis) involves following established treatment guidelines. https://github.com/monarch-initiative/mondo/issues/4521 Fredrickson type I hyperlipoproteinemia Fredrickson type I lipaemia LPL deficiency familial LPL deficiency familial chylomiconemia syndrome familial hyperlipoproteinemia type I familial lipoprotein lipase deficiency (disorder) [ambiguous] familial lipoprotein lipase deficiency with type I phenotype high density lipoprotein cholesterol level QTL 11 hypercholesterinaemic xanthomatosis hyperchylomicronemia hyperlipoproteinemia type I mixed hyperglyceridemia Burger-Grutz syndrome chylomicronemia, familial endogenous hypertriglyceridaemia familial fat-induced hypertriglyceridemia familial hyperchylomicronemia hyperchylomicronemia, familial hyperlipemia, essential familial hyperlipemia, idiopathic, Burger-Grutz type hyperlipoproteinemia, type 1 hyperlipoproteinemia, type 1A hyperlipoproteinemia, type I lipase D deficiency lipd deficiency lipoprotein lipase deficiency lipoprotein lipase deficiency, familial type I hyperlipoproteinemia familial lipoprotein lipase deficiency https://rarediseases.info.nih.gov/diseases/12241/familial-lipoprotein-lipase-deficiency MONDO:0009388 Hyperlysinaemia is a lysine metabolism disorder characterised by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present. hyperlysinemia (disease) hyperlysinemia hyperlysinemia (disease) hyperlysinemia type I lysine alpha-ketoglutarate reductase deficiency Alpha-aminoadipic semialdehyde synthase deficiency L-lysine NAD-oxido-reductase deficiency L-lysine:NAD-oxido-reductase deficiency hyperlysinemia, type 1 hyperlysinemia, type I lysine intolerance lysine:Alpha-ketoglutarate reductase deficiency hyperlysinemia MONDO:0009389 hyperlysinemia due to defect in lysine TRANSPORT into mitochondria hyperlysinemia due to defect in lysine transport into mitochondria MONDO:0009390 hyperlysinuria with hyperammonemia hyperlysinemia, periodic hyperlysinuria with hyperammonemia MONDO:0009391 hypermetabolism due to defect in mitochondria hypermetabolism due to defect in mitochondria MONDO:0009392 hyperopia, high hyperopia, high MONDO:0009393 A rare, genetic disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or coagulation defects or other chronic liver dysfunction. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4985 HHH syndrome ORNT1 deficiency hyperornithinemia-hyperammonemia-homocitrullinemia syndrome hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome ornithine carrier deficiency ornithine translocase deficiency triple H syndrome HHH HHHS Hhh syndrome hyperornithinemia-hyperammonemia-homocitrullinuria syndrome ornithine translocase deficiency syndrome ornithine translocase deficiency MONDO:0009394 Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss. https://github.com/monarch-initiative/mondo/issues/4948 JPG familial hyperphosphatasia familial osteoectasia hereditary hyperphosphatasia hyperostosis corticalis deformans juvenilis juvenile Paget disease juvenile Paget's disease JPD PDB5 Paget disease juvenile type Paget disease of bone 5, juvenile-onset hyperostosid corticalis deformans juvenilis hyperphosphatasemia, chronic congenital idiopathic hyperphosphatasia, familial idiopathic juvenile Pagets disease osteoectasia, familial juvenile Paget disease https://rarediseases.info.nih.gov/diseases/2831/juvenile-paget-disease MONDO:0009395 Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies. https://github.com/monarch-initiative/mondo/issues/4948 Van Buchem disease endosteal hyperostosis hyperostosis corticalis generalisata hyperphosphatasemia tarda van Buchem disease van Buchem disease type 1 SOST-related sclerosing bone dysplasia VAN Buchem disease VBCH endosteal hyperostosis autosomal recessive endosteal hyperostosis, autosomal recessive hyperostosis corticalis generalisata MONDO:0009396 hyperparathyroidism, neonatal self-limited primary, with hypercalciuria hyperparathyroidism, neonatal self-limited primary, with hypercalciuria MONDO:0009397 Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 NSHPT hyperparathyroidism, neonatal Nsph hyperparathyroidism, neonatal severe hyperparathyroidism, neonatal severe primary neonatal severe hyperparathyroidism neonatal severe primary hyperparathyroidism MONDO:0009398 Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGV gene. https://github.com/monarch-initiative/mondo/issues/4948 PIGV hyperphosphatasia-intellectual disability syndrome hyperphosphatasia with intellectual disability syndrome 1 hyperphosphatasia with intellectual disability syndrome type 1 hyperphosphatasia with mental retardation syndrome 1 hyperphosphatasia with mental retardation syndrome type 1 hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGV HPMRS1 Mabry syndrome glycosylphosphatidylinositol biosynthesis defect 2 hyperphosphatasia with intellectual disability syndrome 1 MONDO:0009399 hyperphosphatemia, polyuria, and seizures hyperphosphatemia, polyuria, and seizures MONDO:0009400 Hyperprolinaemia type I is an inborn error of proline metabolism characterised by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2). PRODH hyperprolinemia hyperprolinemia caused by mutation in PRODH hyperprolinemia type 1 proline oxidase deficiency HPI HYRPRO1 hyperprolinemia, type 1 hyperprolinemia, type I hyperprolinemia type 1 MONDO:0009401 Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay. ALDH4A1 hyperprolinemia delta1-pyrroline-5-carboxylate dehydrogenase deficiency hyperprolinemia caused by mutation in ALDH4A1 hyperprolinemia type 2 1 alpha pyrroline-5-carboxylate dehydrogenase deficiency 1-pyrroline-5-carboxylate dehydrogenase deficiency HPII HYRPRO2 hyperprolinemia, type 2 hyperprolinemia, type II type 2 hyperprolinemia hyperprolinemia type 2 https://rarediseases.info.nih.gov/diseases/6710/hyperprolinemia-type-2 MONDO:0009402 A very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies. Naguib-Richieri-Costa syndrome acrofrontofacionasal dysostosis 2 acrofrontofacionasal dysostosis type 2 acrofrontofacionasal syndrome type 2 hypertelorism-hypospadias-polysyndactyly syndrome AFFN dysostosis 2 Naguib syndrome acrofrontofacionasal dysostosis with genitourinary anomalies acrofrontofacionasal dysostosis, severe hypertelorism hypospadias polysyndactyly syndrome hypertelorism, hypospadias, and polysyndactyly syndrome acrofrontofacionasal dysostosis 2 MONDO:0009403 hypertelorism and tetralogy of fallot hypertelorism and tetralogy of fallot https://rarediseases.info.nih.gov/diseases/2848/hypertelorism-and-tetralogy-of-fallot MONDO:0009404 Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia. https://github.com/monarch-initiative/mondo/issues/5588 Bixler Christian Gorlin syndrome Bixler syndrome Bixler-Christian-Gorlin syndrome HMC syndrome hypertelorism, microtia, facial clefting syndrome hypertelorism-microtia-clefting syndrome hypertelorism-microtia-facial clefting syndrome hypertelorism microtia facial clefting syndrome hypertelorism, microtia, facial clefting syndrome MONDO:0009405 Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993. cervical hypertrichosis peripheral neuropathy hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy cervical hypertrichosis-peripheral neuropathy syndrome https://rarediseases.info.nih.gov/diseases/1226/cervical-hypertrichosis-peripheral-neuropathy MONDO:0009406 Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism. https://github.com/monarch-initiative/mondo/issues/4521 Cantu syndrome hypertrichotic osteochondrodysplasia (Cantu syndrome) Craniofaciocardioskeletal syndrome hypertrichotic osteochondrodysplasia hypertrichotic osteochondrodysplasia, Cantu type hypertrichotic osteochondrodysplasia Cantu type https://rarediseases.info.nih.gov/diseases/8585/cantu-syndrome MONDO:0009407 hypertrophic neuropathy and cataract hypertrophic neuropathy and cataract MONDO:0009408 hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase MONDO:0009409 https://github.com/monarch-initiative/mondo/issues/4882 hypervitaminosis a, susceptibility to hypervitaminosis a, susceptibility to MONDO:0009411 Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure. https://github.com/monarch-initiative/mondo/issues/4521 AIRE autoimmune polyendocrinopathy APECED syndrome APS type 1 APS1 MEDAC syndrome Whitaker syndrom aire autoimmune polyendocrinopathy autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome autoimmune polyendocrine syndrome type 1 autoimmune polyendocrinopathy caused by mutation in AIRE autoimmune polyendocrinopathy caused by mutation in aire autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome autoimmune polyglandular syndrome I autoimmune polyglandular syndrome type 1 ham syndrome hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome multiple endocrine deficiency-Addison disease-candidiasis syndrome polyglandular autoimmune syndrome type 1 APS 1 PGA 1 Whitaker syndrome autoimmune polyendocrine syndrome, type I, with or without reversible metaphyseal dysplasia autoimmune polyendocrinopathy syndrome type 1 autoimmune polyendocrinopathy syndrome, type I, autosomal dominant autoimmune polyendocrinopathy type 1 autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) autoimmune polyglandular syndrome, type 1 hypoadrenocorticism with hypoparathyroidism and superficial Moniliasis polyglandular autoimmune syndrome, type 1 polyglandular deficiency syndrome, Persian-Jewish type autoimmune polyendocrine syndrome type 1 MONDO:0009412 A condition that develops in people who do not consume an adequate amount of vitamin C in their diet. Although scurvy is relatively rare in the United States, it continues to be a problem in malnourished populations around the world (such as impoverished, underdeveloped third world countries). Early features of the condition include general weakness, fatigue and aching limbs. If left untreated, more serious problems can develop such as anemia, gum disease, and skin hemorrhages. Symptoms generally develop after at least 3 months of severe or total vitamin C deficiency. Scurvy can be cured with vitamin C supplements taken by mouth. Once recovery is complete, dietary modifications to ensure the 'recommended daily intake' of vitamin C is reached will prevent relapse. Except in the case of severe dental disease, permanent damage from scurvy does not usually occur. https://github.com/monarch-initiative/mondo/issues/4684 ascorbic acid deficiency deficiency of vitamin C scurvy vitamin C deficiency Gulo, nonfunctional L-gulonolactone oxidase pseudogene L-gulonolactone oxidase, nonfunctional hypoascorbemia scorbutus vitamin C, inability to synthesize An argument can be made that Vitamin C deficiency is a genetic disease shared by all humans, due to our loss of the GULO gene. See OMIM for discussion. Here we choose not to treat as genetic. scurvy https://rarediseases.info.nih.gov/diseases/10406/scurvy MONDO:0009413 immunodeficiency, common variable, 2 immunodeficiency, common variable, type 2 CVID2 antibody deficiency due to TACI defect hypogammaglobulinemia due to TACI deficiency immunodeficiency, common variable, 2 MONDO:0009414 Glycogen synthetase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves. https://github.com/monarch-initiative/mondo/issues/4985 GSD due to hepatic glycogen synthase deficiency GSD type 0a glycogen storage disease due to glycogen synthase deficiency of liver glycogen storage disease due to hepatic glycogen synthase deficiency glycogen storage disease due to liver glycogen synthase deficiency glycogen storage disease type 0a glycogen synthase deficiency glycogenosis type 0a liver glycogen storage disease due to glycogen synthase deficiency GSD 0A GSD0A glycogen storage disease 0, liver glycogen storage disease type 0 glycogen storage disease type 0, liver hepatic glycogen synthase deficiency hypoglycemia with deficiency of glycogen synthetase in the liver liver GSD 0 liver glycogen storage disease 0 liver glycogen synthase deficiency glycogen storage disorder due to hepatic glycogen synthase deficiency MONDO:0009415 https://github.com/monarch-initiative/mondo/issues/4521 hypoglycemia of infancy, leucine-sensitive hypoglycemia, leucine-induced LIH familial infantile hypoglycemia precipitated by leucine hypoglycemia leucine induced hypoglycemia leucine-induced leucine-sensitive hypoglycemia of infancy hypoglycemia, leucine-induced MONDO:0009416 HIHGHH hypoinsulinemic hypoglycemia with hemihypertrophy hypoinsulinemic hypoglycemia and body hemihypertrophy MONDO:0009417 This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family. Lubinsky syndrome cataracts and testicular failure hypogonadism cataract syndrome hypogonadism-cataract syndrome hypergonadotropic hypogonadism-cataract syndrome MONDO:0009418 hypogonadism with low-grade mental deficiency and microcephaly hypogonadism with low-grade mental deficiency and microcephaly MONDO:0009419 Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia. https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/5723 Woodhouse-Sakati syndrome diabetes-hypogonadism-deafness-intellectual disability syndrome woodhouse-Sakati syndrome extrapyramidal disorder, progressive, with primary hypogonadism, intellectual disability, and alopecia extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia hypogonadism, alopecia, diabetes mellitus, intellectual disability, deafness, and extrapyramidal syndrome hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome hypogonadism, diabetes mellitus, alopecia, intellectual disability, and electrocardiographic abnormalities hypogonadism, diabetes mellitus, alopecia, mental retardation, and electrocardiographic abnormalities woodhouse Sakati syndrome Woodhouse-Sakati syndrome https://rarediseases.info.nih.gov/diseases/5592/woodhouse-sakati-syndrome MONDO:0009420 This syndrome is characterized by primary hypergonadotropic hypogonadism and partial alopecia. Al Awadi-Farag-Teebi syndrome hypergonadotropic hypogonadism and partial alopecia primary hypergonadotropic hypogonadism-partial alopecia syndrome MONDO:0009421 hypogonadism, male hypogonadism and testicular atrophy Editor note: check OMIM hypogonadism, male MONDO:0009422 hypohidrosis with abnormal palmar dermal Ridges sweat gland hypoplasia hypohidrosis with abnormal palmar dermal Ridges MONDO:0009423 hypokalemic alkalosis, familial, with specific renal tubulopathy Gullner syndrome hypokalemia, familial hypokalemic alkalosis, familial, with specific renal tubulopathy MONDO:0009424 Any Bartter syndrome in which the cause of the disease is a mutation in the KCNJ1 gene. https://github.com/monarch-initiative/mondo/issues/4521 BARTS2 Bartter disease type 2 Bartter syndrome caused by mutation in KCNJ1 Bartter syndrome type 2 Bartter syndrome type 2 antenatal Bartter syndrome, type 2 KCNJ1 Bartter syndrome hyperprostaglandin E syndrome 2 hypokalemic alkalosis with hypercalciuria 2 antenatal Bartter syndrome antenatal type 2 Bartter syndrome, antenatal, type 2 Bartter syndrome, type 2, antenatal hypokalemic alkalosis with hypercalciuria 2, antenatal hypokalemic alkalosis with hypercalciuria antenatal 2 hypokalemic alkalosis with hypercalciuria, antenatal, 2 Bartter disease type 2 MONDO:0009425 Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis. hypomandibular faciocranial dysostosis hypomandibular faciocranial dysostosis https://rarediseases.info.nih.gov/diseases/2907/hypomandibular-faciocranial-dysostosis MONDO:0009426 Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome, the latter differs from SSS by its normal intelligence and skeletal features. https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5588 HRD syndrome HRDS Richardson-Kirk syndrome SSS Sanjad-Sakati syndrome hypoparathyroidism with short stature, intellectual disability and seizures hypoparathyroidism with short stature, mental retardation and seizures hypoparathyroidism-intellectual disability-dysmorphism syndrome hypoparathyroidism-retardation-dysmorphism syndrome hypoparathyroidism-short stature-intellectual disability-seizures syndrome HRD hypoparathyroidism with short stature, intellectual disability, and seizures hypoparathyroidism with short stature, mental retardation, and seizures hypoparathyroidism, congenital, associated with Dysmorphism, Growth retardation, and developmental delay hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay hypoparathyroidism-retardation-dysmorphism syndrome MONDO:0009429 hypophosphatemia, renal, with intracerebral calcifications hypophosphatemia, renal, with intracerebral calcifications MONDO:0009430 Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the DMP1 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 DMP1 autosomal recessive hypophosphatemic rickets autosomal recessive hypophosphatemic rickets caused by mutation in DMP1 hypophosphatemic rickets, AR hypophosphatemic rickets, autosomal recessive, 1 hypophosphatemic rickets, autosomal recessive, type 1 ARHR1 Arhr hypophosphatemia, autosomal recessive hypophosphatemic rickets, autosomal recessive, 1 MONDO:0009431 Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 HHRH hypercalciuric hypophosphatemic rickets hypophosphatemic hypercalciuric rickets hypophosphatemic rickets with hypercalciuria hypercalciuric rickets hypophosphatemic rickets with hypercalciuria, hereditary hereditary hypophosphatemic rickets with hypercalciuria MONDO:0009432 https://github.com/monarch-initiative/mondo/issues/4069 hypopituitarism, congenital, with central diabetes insipidus hypopituitarism, congenital, with central diabetes insipidus MONDO:0009433 Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the GJA1 gene. HLHS GJA1 hypoplastic left heart syndrome hypoplastic left heart syndrome 1 hypoplastic left heart syndrome caused by mutation in GJA1 hypoplastic left heart syndrome type 1 HLHS1 hypoplastic left heart syndrome 1 MONDO:0009434 hypoproteinemia, hypercatabolic B2M deficiency Beta-2-microglobulin deficiency IMD43 immunodeficiency 43 hypoproteinemia, hypercatabolic MONDO:0009435 Hypospasdias B intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails. https://github.com/monarch-initiative/mondo/issues/5588 Goldblatt-Wallis syndrome Goldblatt Wallis syndrome hypospadias intellectual deficit Goldblatt type hypospadias intellectual disability Goldblatt type hypospadias intellectual disability syndrome hypospadias mental retardation Goldblatt type hypospadias mental retardation syndrome hypospadias-intellectual disability syndrome hypospadias-mental retardation syndrome hypospadias-intellectual disability, Goldblatt type syndrome https://rarediseases.info.nih.gov/diseases/2928/hypospadias-mental-retardation-goldblatt-type MONDO:0009436 Hypothalamic hamartomas (HH) are rare, tumor-like malformations that occur during fetal development and are present at birth. The lesions usually do not change in size or spread to other locations. Both the type and severity of symptoms vary greatly among patients with hypothalamic hamartomas. Common symptoms include frequent gelastic seizures (spontaneous laughing, giggling and/or smirking) or dacrystic seizures (crying or grunting); developmental delays; and/or precocious puberty. Additional symptoms may include cognitive impairment; emotional and behavioral difficulties; and endocrine disturbances. These symptoms often start early in life but are frequently misdiagnosed. For some patients, endocrine (hormonal) disturbances such as central precocious puberty may be the only symptom. These patients can often be treated successfully with medications. For some, however, HH can be disabling. For those with HH and epilepsy, it is common for the disorder to progress and for different types of seizures to develop. The seizures associated with HH often cannot be well-controlled with the standard seizure medications. For some, additional treatment such as surgical removal, radiosurgery, or thermoablation may be indicated. Though hypothalamic hamartomas can occur in patients with certain genetic disorders (such as Pallister-Hall syndrome), the majority of cases are sporadic. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 Pallister-Hall-like syndrome congenital hypothalamic hamartoma syndrome hamartoma of hypothalamus hypothalamic hamartoma hypothalamic hamartomas hamartoma of the hypothalamus congenital hypothalamic hamartoma syndrome https://rarediseases.info.nih.gov/diseases/2934/hypothalamic-hamartomas MONDO:0009437 Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases. Athyroidal hypothyroidism-spiky hair-cleft palate syndrome Bamforth syndrome Bamforth-Lazarus syndrome hypothyroidism, ATHYROIDAL, with spiky hair and cleft palate hypothyroidism-cleft palate syndrome hypothyroidism cleft palate hypothyroidism, athyroidal, with spiky hair and cleft palate hypothyroidism, thyroidal or ATHYROIDAL, with spiky hair and cleft palate Bamforth-Lazarus syndrome MONDO:0009438 hypouricemia, hypercalcinuria, and decreased bone density hypouricemia, hypercalcinuria, and decreased bone density MONDO:0009439 An autosomal recessive condition caused by mutation(s) in the ALOX12B gene, encoding arachidonate 12-lipoxygenase, 12R-type. It is characterized by dry, thickened, scaly skin. https://github.com/monarch-initiative/mondo/issues/4069 ARCI2 Brocq congenital ichthyosiform erythroderma nonbullous form NCIE1 autosomal recessive congenital ichthyosis type 2 ichthyosis, congenital, autosomal recessive type 2 nonbullous congenital ichthyosiform erythroderma 1 NBCIE NCIE collodion baby, self-healing ichthyosiform erythroderma, Brocq congenital, nonbullous form ichthyosiform erythroderma, Brocq congenital, nonbullous form, formerly ichthyosiform erythroderma, congenital, nonbullous, 1 ichthyosiform erythroderma, nonbullous congenital, 1 ichthyosiform erythroderma, nonbullous congenital, 1, formerly ichthyosis, congenital, autosomal recessive 2 autosomal recessive congenital ichthyosis 2 MONDO:0009440 https://github.com/monarch-initiative/mondo/issues/551 ichthyosiform erythroderma, corneal involvement, and deafness Desmons syndrome KID syndrome, autosomal recessive ichthyosiform erythroderma, corneal involvement, deafness keratitis-ichthyosis-deafness syndrome, autosomal recessive ichthyosiform erythroderma, corneal involvement, and hearing loss MONDO:0009441 Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the TGM1 gene. https://github.com/monarch-initiative/mondo/issues/4069 ARCI1 autosomal recessive congenital ichthyosis 1 autosomal recessive congenital ichthyosis type 1 ichthyosis, congenital, autosomal recessive type 1 bathing suit ichthyosis LI1 collodion baby, self-healing collodion fetus desquamation of newborn ichthyosis congenita ichthyosis congenita 2 ichthyosis lamellar 1 ichthyosis, congenital, autosomal recessive 1 ichthyosis, congenital, autosomal recessive 1, with bathing suit distribution ichthyosis, lamellar, 1 ichthyosis, lamellar, 1, formerly lamellar exfoliation of newborn lamellar ichthyosis, type 1 autosomal recessive congenital ichthyosis 1 https://rarediseases.info.nih.gov/diseases/3170/ichthyosis-lamellar-1 MONDO:0009442 ichthyosis congenita with biliary atresia congenital ichthyosis with biliary atresia ichthyosis congenita biliary atresia ichthyosis congenita with biliary atresia https://rarediseases.info.nih.gov/diseases/2948/ichthyosis-congenita-biliary-atresia MONDO:0009443 Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 ARCI4B autosomal recessive congenital ichthyosis type 4B harlequin ichthyosis harlequin type ichthyosis congenita harlequin type ichthyosis fetalis hi ichthyosis , congenital, autosomal recessive 4b (harlequin) ichthyosis congenita, Harlequin type ichthyosis fetalis, Harlequin type ichthyosis, congenital, autosomal recessive type 4B 'Harlequin fetus' Harlequin fetus ichthyosis congenita, Harlequin fetus type ichthyosis, congenital, autosomal recessive 4B autosomal recessive congenital ichthyosis 4B MONDO:0009444 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjogren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987. https://github.com/monarch-initiative/mondo/issues/5588 Jagell-Holmgren-Hofer syndrome Jagell Holmgren Hofer syndrome ichthyosis alopecia eclabion ectropion intellectual disability ichthyosis alopecia eclabion ectropion mental retardation ichthyosis with alopecia, eclabium, ectropion, and intellectual disability ichthyosis with alopecia, eclabium, ectropion, and mental retardation ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome MONDO:0009445 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterised by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked. Dykes-Markes-Harper syndrome Dykes-Marks-Harper syndrome Dykes Markes Harper syndrome ichthyosis, hepatosplenomegaly, and cerebellar degeneration ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome MONDO:0009446 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterised by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive. Passwell-Goodman-Siprkowski syndrome ichthyosis intellectual deficit dwarfism renal impairment ichthyosis, intellectual disability, dwarfism and renal impairment ichthyosis, intellectual disability, dwarfism, and renal impairment ichthyosis, mental retardation, dwarfism and renal impairment ichthyosis, mental retardation, dwarfism, and renal impairment ichthyosis-intellectual disability-dwarfism-renal impairment syndrome MONDO:0009447 ichthyosis, split hairs, and amino aciduria ichthyosis, split hairs, and amino aciduria MONDO:0009448 A metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessive trait. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4985 iminoglycinuria iminoglycinuria, digenic iminoglycinuria https://rarediseases.info.nih.gov/diseases/8424/iminoglycinuria MONDO:0009449 ciliary dyskinesia with defective radial spokes cilia with defective radial spokes immotile cilia syndrome due to defective radial spokes immotile cilia syndrome, due to defective radial spokes ciliary dyskinesia with defective radial spokes MONDO:0009450 ciliary dyskinesia with excessively long cilia immotile cilia syndrome due to excessively long cilia ciliary dyskinesia with excessively long cilia https://rarediseases.info.nih.gov/diseases/2982/ciliary-dyskinesia-with-excessively-long-cilia MONDO:0009451 Nezelof syndrome Nezelof's syndrome T-lymphocyte deficiency immune defect due to absence Of Thymus immune defect due to absence of THYMUS thymic aplasia Nezelof syndrome MONDO:0009452 A very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency. https://github.com/monarch-initiative/mondo/issues/5682 Dionisi-Vici-Sabetta-Gambarara syndrome Vici syndrome absent corpus callosum-cataract-immunodeficiency syndrome corpus callosum agenesis-cataract-immunodeficiency syndrome immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum Dionisi Vici Sabetta Gambarara syndrome VICIS absent corpus callosum cataract immunodeficiency immunodeficiency with cleft Lip/palate, cataract, hypopigmentation, and absent corpus callosum immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum Vici syndrome https://rarediseases.info.nih.gov/diseases/448/vici-syndrome MONDO:0009453 immune deficiency disease immune deficiency disease MONDO:0009454 Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the DNMT3B gene. DNMT3B immunodeficiency-centromeric instability-facial anomalies syndrome ICF syndrome 1 immunodeficiency-centromeric instability-Facial anomalies syndrome type 1 immunodeficiency-centromeric instability-facial anomalies syndrome 1 immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in DNMT3B immunodeficiency-centromeric instability-facial anomalies syndrome type 1 ICF1 centromeric instability, immunodeficiency syndrome immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16 immunodeficiency syndrome, variable immunodeficiency-centromeric instability-facial anomalies syndrome 1 MONDO:0009455 immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes MONDO:0009456 Immunoerythromyeloid hypoplasia Immunoerythromyeloid hypoplasia MONDO:0009457 IMMUNOGLOBULIN D level in plasma, LOW immunoglobulin d level in plasma, low MONDO:0009458 A multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome. https://github.com/monarch-initiative/mondo/issues/4948 Schimke immuno-osseous dysplasia Schimke immunoosseous dysplasia Schimke syndrome immunoosseous dysplasia Schimke type spondyloepiphyseal dysplasia - nephrotic syndrome spondyloepiphyseal dysplasia-nephrotic syndrome IMMUNOOSSEOUS dysplasia, Schimke type SIOD Schimke IMMUNOOSSEOUS dysplasia Schimke Immunoosseous dysplasia spondyloepiphyseal dysplasia nephrotic syndrome Schimke immuno-osseous dysplasia MONDO:0009459 A syndrome characterized by indifference to pain despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and intellectual disability may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343) https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 channelopathy-associated CIP insensitivity to pain, congenital neuropathy, hereditary sensory and autonomic, type IID CIP HSAN2D HSAN2D, AR asymbolia for pain congenital analgesia, autosomal recessive indifference to pain, congenital, autosomal recessive insensitivity to pain, channelopathy-associated neuropathy, hereditary sensory and autonomic, type 2D channelopathy-associated congenital insensitivity to pain, autosomal recessive MONDO:0009460 indolylacroyl glycinuria with intellectual disability indolylacroyl glycinuria with mental retardation indolylacroyl glycinuria with intellectual disability MONDO:0009461 Male infertility due to large-headed multiflagellar polypoid spermatozoa is a male infertility due to sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy). macrocephalic sperm head syndrome male infertility due to large-headed multiflagellar polyploid spermatozoa male infertility due to macrozoospermia male infertility with large-headed, multiflagellar, polyploid spermatozoa spermatogenic failure 5 spermatogenic failure type 5 SPGF5 infertility associated with multi-tailed spermatozoa and excessive DNA infertility associated with multitailed spermatozoa and excessive DNA macrozoospermia spermatogenic failure 5 MONDO:0009462 inosine phosphorylase deficiency, immune defect due to inosine phosphorylase deficiency, immune defect due to MONDO:0009463 internal carotid arteries, hypoplasia of internal carotid arteries, hypoplasia of MONDO:0009464 immunodeficiency with defective T-cell response to Interleukin type 1 immunodeficiency with defective T-cell response to interleukin 1 Interleukin 1, defective T-cell response to immunodeficiency with defective T-cell response to interleukin 1 MONDO:0009465 A rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns. multiple gastrointestinal atresias multiple intestinal atresia CID-MIA/early-onset IBD GIDID combined immunodeficiency-enteropathy spectrum familial intestinal polyatresia syndrome gastrointestinal defects and immunodeficiency syndrome intestinal atresia multiple intestinal atresia, multiple intestinal atresia, multiple and/or inflammatory bowel disease with or without immunodeficiency multiple intestinal atresia https://rarediseases.info.nih.gov/diseases/3013/intestinal-atresia-multiple MONDO:0009467 Natal teeth, intestinal pseudoobstruction and patent ductus intestinal pseudoobstruction with patent ductus arteriosus and NATAL teeth natal teeth-intestinal pseudoobstruction-patent ductus syndrome MONDO:0009468 Idiopathic intracranial hypertension is a neurological disorder characterized by isolated increased intracranial pressure manifesting with recurrent and persistent headaches, nausea, vomiting, progressive and transient obstruction of the visual field, papilledema. Visual loss can be irreversible. IIH benign intracran. hypt. benign intracranial hypertension idiopathic intracranial hypertension pseudotumor cerebri intracranial hypertension, idiopathic pseudotumor cerebri https://rarediseases.info.nih.gov/diseases/4561/pseudotumor-cerebri MONDO:0009469 Benign recurrent intrahepatic cholestasis 1 (BRIC1) is characterized by episodes of liver dysfunction called cholestasis, during which the liver cells have a reduced ability to release a digestive fluid called bile. These episodes can last from weeks to months, and the time between them, during which there are usually no symptoms, can vary from weeks to years.Most people with BRIC1have their first episode of cholestasisintheir teens or twenties. Symptoms oftenpresent with severe itchiness, followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. BRIC1 is caused by mutations in the ATP8B1 gene. This condition is inherited in an autosomal recessive pattern.BRIC1generally does not cause lasting damage to the liver. However, in rare cases, episodes of liver dysfunction may develop into a more severe, permanent form of liver disease known as progressive familial intrahepatic cholestasis (PFIC). BRIC and PFIC are sometimes considered to be part of a spectrum of intrahepatic cholestasis disorders of varying severity. https://github.com/monarch-initiative/mondo/issues/4521 cholestasis, benign recurrent intrahepatic ATP8B1 benign recurrent intrahepatic cholestasis BRIC1 Bric type 1 benign recurrent intrahepatic cholestasis caused by mutation in ATP8B1 cholestasis, benign recurrent intrahepatic, type 1 Summerskill syndrome benign recurrent intrahepatic cholestasis 1 cholestasis, benign recurrent intrahepatic 1 cholestasis, benign recurrent intrahepatic, 1 mild ATP8B1 deficiency recurrent familial intrahepatic cholestasis 1 benign recurrent intrahepatic cholestasis type 1 https://rarediseases.info.nih.gov/diseases/10028/benign-recurrent-intrahepatic-cholestasis-1 MONDO:0009470 Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTB gene. https://github.com/monarch-initiative/mondo/issues/3939 ACTB Baraitser-Winter cerebrofrontofacial syndrome ACTB-related BAFopathy Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTB Baraitser-Winter syndrome 1 Baraitser-Winter syndrome type 1 Fryns-Aftimos syndrome cerebrofrontofacial syndrome BRWS1 Baraitser-WINTER syndrome 1 cerebrooculofacial lymphatic syndrome chromosome 7P22 deletion syndrome intellectual disability with epilepsy and characteristic facies iris coloboma with ptosis, hypertelorism, and intellectual disability iris coloboma with ptosis, hypertelorism, and mental retardation mental retardation with epilepsy and characteristic facies pachygyria, intellectual disability, epilepsy, and characteristic facies pachygyria, mental retardation, epilepsy, and characteristic facies Baraitser-Winter syndrome 1 MONDO:0009471 intrinsic factor and r binder, combined congenital deficiency of intrinsic factor and r binder, combined congenital deficiency of MONDO:0009472 https://github.com/monarch-initiative/mondo/issues/4521 acetylation, slow Fast acetylator phenotype INH inactivation, Fast INH inactivation, slow Isoniazid inactivation, slow acetylation, Fast slow acetylator phenotype acetylation, slow MONDO:0009473 Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. Kawashima syndrome microtia-aortic arch syndrome ISOTRETINOIN embryopathy-like syndrome Isotretinoin embryopathy like syndrome microtia aortic arch syndrome microtia-aortic Arch syndrome syndrome of microtia and aortic arch anomalies isotretinoin-like syndrome MONDO:0009474 isovaleric acid, inability to smell isovaleric acid, inability to smell MONDO:0009475 Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported. https://github.com/monarch-initiative/mondo/issues/4985 Isovalericacidemia isovaleric acid CoA dehydrogenase deficiency isovaleric acidemia isovaleric aciduria isovaleryl-CoA dehydrogenase deficiency IVA IVD deficiency isovaleric acid Coa dehydrogenase deficiency isovaleryl CoA carboxylase deficiency isovaleric acidemia https://rarediseases.info.nih.gov/diseases/465/isovaleric-acidemia MONDO:0009476 Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis. The most important cause of mortality is short bowel syndrome, encountered in 65% of cases. Jejunoileal atresia apple peel syndrome atresia of the small intestine congenital small intestine atresia intestinal atresia type IIIb jejunal atresia small intestinal atresia small intestine atresia APSB apple peel small bowel syndrome apple-peel intestinal atresia congenital atresia of the small intestine familial apple peel jejunal atresia atresia of small intestine MONDO:0009477 An autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016). https://github.com/monarch-initiative/mondo/issues/5588 CILD31 Stromme syndrome apple peel syndrome with microcephaly and ocular anomalies apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome ciliary dyskinesia, primary, type 31 jejunal atresia with microcephaly and ocular anomalies jejunal atresia-microcephaly-ocular anomalies syndrome lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome primary ciliary dyskinesia 31 STROMS ciliary dyskinesia, primary, 31 ciliary dyskinesia, primary, 31, formerly Stromme syndrome MONDO:0009478 Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE). Cid due to DOCK8 deficiency DOCK8 immunodeficiency syndrome combined immunodeficiency due to DOCK8 deficiency combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency dedicator of cytokinesis 8 deficiency AR hyperimmunoglobulin E syndrome AR-HIES DOCK8 deficiency HIES autosomal recessive HIES, autosomal recessive autosomal recessive hyper IgE syndrome hyper Ig E syndrome, autosomal recessive hyper-IgE recurrent infection syndrome, autosomal recessive hyper-IgE syndrome, autosomal recessive hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive combined immunodeficiency due to DOCK8 deficiency https://rarediseases.info.nih.gov/diseases/2816/autosomal-recessive-hyper-ige-syndrome MONDO:0009479 A multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability. https://github.com/monarch-initiative/mondo/issues/5588 JBS Johanson-Blizzard syndrome pancreatic insufficiency, combined exocrine Johanson-BLIZZARD syndrome nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness Johanson-Blizzard syndrome MONDO:0009480 Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease. Arima syndrome CORS Cerebellooculorenal syndrome Dekaban-Arima syndrome JS type B JS-OR Joubert syndrome with Senior-Loken syndrome Joubert syndrome with oculorenal defect Dekaban Arima syndrome Joubert syndrome 5 Joubert syndrome with bilateral chorioretinal coloboma Joubert syndrome with oculorenal anomalies cerebello-oculo-renal syndrome cerebro-oculo-hepato-renal syndrome cerebrooculohepatorenal syndrome chorioretinal coloboma with cerebellar vermis aplasia coloboma, chorioretinal, with cerebellar vermis aplasia Joubert syndrome with oculorenal defect https://rarediseases.info.nih.gov/diseases/9455/joubert-syndrome-with-oculorenal-anomalies MONDO:0009481 Jumping Frenchmen of Maine 'jumpers' of Maine exaggerated startle reflex Jumping Frenchmen of Maine MONDO:0009482 Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROKR2 gene. PROKR2 hypogonadotropic hypogonadism hypogonadotropic hypogonadism 3 with or without anosmia hypogonadotropic hypogonadism caused by mutation in PROKR2 HH3 KAL3 Kallmann syndrome 3 hypogonadotropic hypogonadism 3 with or without anosmia MONDO:0009483 Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation. https://github.com/monarch-initiative/mondo/issues/5588 cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome kapur-Toriello syndrome kapur Toriello syndrome long columella with cleft Lip/palate and eye, heart, and intestinal anomalies long columella with cleft lip/palate and eye, heart and intestinal anomalies Kapur-Toriello syndrome https://rarediseases.info.nih.gov/diseases/3078/kapur-toriello-syndrome MONDO:0009484 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI1 gene. CILD1 DNAI1 primary ciliary dyskinesia ciliary dyskinesia, primary, type 1 primary ciliary dyskinesia 1 primary ciliary dyskinesia 1 with or without situs inversus primary ciliary dyskinesia caused by mutation in DNAI1 primary ciliary dyskinesia type 1 Kartagener syndrome PCD Polynesian bronchiectasis Siewert syndrome ciliary dyskinesia, primary, 1 ciliary dyskinesia, primary, 1, with or without situs inversus dextrocardia, bronchiectasis, and sinusitis immotile cilia syndrome primary ciliary dyskinesia 1 MONDO:0009485 https://github.com/monarch-initiative/mondo/issues/5588 BPIDS blepharophimosis-ptosis-intellectual disability syndrome oculocerebrofacial syndrome, Kaufman type KOS Kaufman oculocerebrofacial syndrome kos severe intellectual disability, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet severe mental retardation, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet oculocerebrofacial syndrome, Kaufman type MONDO:0009486 An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet. Kenny-Caffey syndrome type 1 Kenny-Caffey syndrome, autosomal recessive KCS1 Kcs Kenny-Caffey syndrome, type 1 autosomal recessive Kenny-Caffey syndrome https://rarediseases.info.nih.gov/diseases/8367/kenny-caffey-syndrome-type-1 MONDO:0009487 https://github.com/monarch-initiative/mondo/issues/4069 keratoconus and congenital hip dysplasia keratoconus and congenital hip dysplasia MONDO:0009488 keratoconus posticus circumscriptus KPC Kpc with associated malformations keratoconus posticus CIRCUMSCRIPTUS keratoconus posticus circumscriptus https://rarediseases.info.nih.gov/diseases/3091/keratoconus-posticus-circumscriptus MONDO:0009489 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterised by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive. PPK, Gamborg-Nielsen type hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type PPKNR palmoplantar keratoderma, Norrbotten recessive type hereditary palmoplantar keratoderma, Gamborg-Nielsen type MONDO:0009490 Papillon-Lefevre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis. PLS Papillon Lefevre syndrome Papillon-Lefvre syndrome keratosis palmoplantar-periodontopathy syndrome Keratoris palmoplantaris with periodontopathia PALS PAPILLON-Lefevre syndrome Papillon-LEFèvre syndrome Pls hyperkeratosis palmoplantaris with periodontosis keratosis palmoplantar - periodontopathy keratosis palmoplantaris with periodontopathia palmar-plantar hyperkeratosis and concomitant periodontal destruction palmoplantar keratoderma with periodontosis Papillon-Lefevre disease MONDO:0009491 Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis. Haim-Munk syndrome keratosis palmoplantaris-periodontopathia-onychogryposis syndrome palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome palmoplantar keratoderma-periodontopathia-onychogryposis syndrome Cochin Jewish disorder HAIM-Munk syndrome HMS keratosis palmoplantaris with periodontopathia and onychogryposis Haim-Munk syndrome https://rarediseases.info.nih.gov/diseases/44/haim-munk-syndrome MONDO:0009492 Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis. https://github.com/monarch-initiative/mondo/issues/4521 OXCT1 deficiency SCOT deficiency Succinyl CoA:3-oxoacid CoA transferase deficiency succinyl-CoA acetoacetate transferase deficiency succinyl-CoA:3-ketoacid CoA transferase deficiency succinyl-CoA:3-oxoacid CoA transferase deficiency 3-oxoacid CoA transferase deficiency SCOTD Scot deficiency ketoacidosis due to Scot deficiency succinyl-CoA:3-oxoacid-CoA transferase deficiency succinyl-Coa:3-ketoacid Coa-transferase deficiency succinyl-Coa:acetoacetate transferase deficiency succinyl-CoA:3-ketoacid CoA transferase deficiency MONDO:0009493 Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria. Richards-Rundle syndrome ketoaciduria-intellectual disability-ataxia-deafness syndrome RICHARDS-RUNDLE syndrome RRNS ataxia-deafness-intellectual disability syndrome ataxia-deafness-mental retardation syndrome ataxia-deafness-retardation syndrome with ketoaciduria familial ataxia-hypogonadism syndrome ketoaciduria - intellectual disability - ataxia - deafness ketoaciduria-mental deficiency syndrome Richards-Rundle syndrome MONDO:0009495 Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5588 Keutel syndrome pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome KEUTEL syndrome KTLS pulmonic stenosis brachytelephalangism and calcification of cartilages pulmonic stenosis, brachytelephalangism, and calcification of cartilages Keutel syndrome https://rarediseases.info.nih.gov/diseases/8449/keutel-syndrome MONDO:0009496 Kniest-like dysplasia with pursed lips and ectopia lentis burton syndrome Kniest-like dysplasia with pursed lips and ectopia lentis MONDO:0009497 Kifafa seizure disorder Complex familial seizure disorder Vitsala parkinsonian features and neurologic abnormalities, intellectual disability and transient psychotic episodes parkinsonian features and neurologic abnormalities, mental retardation and transient psychotic episodes Kifafa seizure disorder https://rarediseases.info.nih.gov/diseases/8420/kifafa-seizure-disorder MONDO:0009498 Lethal Kniest-like dysplasia is a severe lethal skeletal dysplasia. It has been described in two sibs (one male and one female) born to nonconsanguineous parents. It is characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities. Kniest like dysplasia lethal Kniest-like dysplasia, lethal arthrosis, flat face, hypotonia, short neck and macrocephaly lethal Kniest-like dysplasia https://rarediseases.info.nih.gov/diseases/3124/kniest-like-dysplasia-lethal MONDO:0009499 A lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms. GALC deficiency Krabbe disease Krabbe's disease Krabbe's leukodystrophy beta galactocerebrosidase deficiency diffuse globoid body sclerosis galactocerebrosidase deficiency galactosylceramidase deficiency galactosylceramide lipidosis globoid cell leukodystrophy globoid cell leukoencephalopathy GLD Krabbe leukodystrophy galactosylceramide Beta-galactosidase deficiency Pathogenesis: rapid and nearly complete disappearance of myelin and myelin-forming cells--the oligodendrocytes in the central nervous system and the Schwann cells in the peripheral nervous system, reactive astroytic gliosis, and infiltration of the unique and often multinucleated macrophages ("globoid cells") that contain strongly periodic acid-Schiff (PAS)-positive materials. A normally insignificant but highly cytotoxic metabolite, galactosylsphingosine (psychosine), is also a substrate of galactosylceramidase and is considered to play a critical role in the pathogenesis[PMID:14572137] Krabbe disease MONDO:0009500 kuru, susceptibility to susceptibility to kuru kuru, susceptibility to MONDO:0009501 Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase. erythrocyte lactate transporter defect lactate transporter defect, myopathy due to metabolic myopathy due to lactate transporter defect MONDO:0009502 Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood. dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency pyruvate dehydrogenase E2 deficiency pyruvate dehydrogenase complex component E2 deficiency PDHDD lactic acidemia due to defect of E2 lipoyl transacetylase of the pyruvate dehydrogenase Complex pyruvate dehydrogenase E2 deficiency MONDO:0009503 Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction. https://github.com/monarch-initiative/mondo/issues/4521 2-oxoglutarate complex deficiency Glycine cleavage system L protein deficiency branched chain alpha-ketoacid dehydrogenase complex deficiency diaphorase deficiency dihydrolipoyl dehydrogenase deficiency lacticacidemia due to PDX1 deficiency lipoamide dehydrogenase deficiency pyruvate dehydrogenase E3-binding protein deficiency pyruvate dehydrogenase complex component E3 deficiency pyruvate dehydrogenase protein X component deficiency PDHXD lactic acidemia due to defect in lipoyl-containing component 10 of the pyruvate dehydrogenase Complex pyruvate dehydrogenase E3-binding PROTEIN deficiency pyruvate dehydrogenase E3-binding protein deficiency MONDO:0009504 Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated. succinate-CoA ligase deficiency SUCLG1 mitochondrial DNA depletion syndrome mitochondrial DNA depletion syndrome 9 mitochondrial DNA depletion syndrome caused by mutation in SUCLG1 mitochondrial DNA depletion syndrome type 9 MTDPS9 fatal infantile lactic acidosis with methylmalonic aciduria lactic acidosis congenital infantile lactic acidosis, fatal infantile lactic acidosis, fatal infantile, formerly mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) mitochondrial DNA depletion syndrome 9 https://rarediseases.info.nih.gov/diseases/3163/lactic-acidosis-congenital-infantile MONDO:0009505 https://github.com/monarch-initiative/mondo/issues/4521 D-lactic aciduria with susceptibility to gout lactic aciduria due to D-lactic acid lactic aciduria due to D-lactic acid MONDO:0009506 neutrophil-specific granule deficiency recurrent infection due to specific granule deficiency specific granule deficiency SGD lactoferrin-deficient neutrophils neutrophil lactoferrin deficiency specific granule deficiency MONDO:0009507 Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit. Lambert syndrome branchial dysplasia-intellectual disability-inguinal hernia syndrome branchial dysplasia clubfoot inguinal hernia and biliary atresia branchial dysplasia, clubfoot, inguinal hernia, and biliary atresia Lambert syndrome https://rarediseases.info.nih.gov/diseases/3169/lambert-syndrome MONDO:0009508 Lambotte syndrome microcephaly, holoprosencephaly, and intrauterine Growth retardation Lambotte syndrome MONDO:0009509 Landau-Kleffner syndrome (LKS) is a rare neurological syndrome characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and recurrent seizures (epilepsy). Children with LKS typically develop normally until signs and symptoms of the syndrome begin to develop between age 2 and 8 years. Males are more often affected by LKS than females. In about 20% of people with LKS, mutations (changes) in the GRIN2A gene have been identified. The syndrome is inherited in an autosomal dominant manner. In other cases, the syndrome may be caused by changes to other unidentified genes. LKS is diagnosed when a doctor sees clinical features that are consistent with the syndrome such as a loss of speech and an electroencephalogram (EEG) that shows specific kinds of seizure activity. Genetic testing can be used to confirm if there is a mutation in GRIN2A, but this testing is not done routinely. Treatment for LKS usually consists of medications such as anticonvulsants and corticosteroids to help prevent seizures. Speech therapy should also be started promptly in order to ensure the best long-term outlook for children with LKS. https://github.com/monarch-initiative/mondo/issues/4521 LKS Landau-Kleffner syndrome acquired epileptic aphasia epilepsy, focal, with speech disorder and with or without impaired intellectual development FESD Rolandic epilepsy, intellectual disability, and speech dyspraxia, autosomal dominant Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant acquired aphasia with convulsive disorder acquired epileptiform aphasia aphasia, acquired, with epilepsy benign epilepsy of childhood with centrotemporal spikes continuous Spike and waves during slow-Wave sleep syndrome epilepsy, focal, with speech disorder and with or without intellectual disability epilepsy, focal, with speech disorder and with or without mental retardation Landau-Kleffner syndrome https://rarediseases.info.nih.gov/diseases/6855/landau-kleffner-syndrome MONDO:0009511 Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome JDSCD Larsen syndrome, autosomal recessive Larsen syndrome, autosomal recessive, formerly multiple JOINT dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects multiple JOINT dislocations, short stature, craniofacial dysmorphism, and congenital heart defects multiple Joint dislocations, short stature, and craniofacial Dysmorphism with or without congenital heart defects Larsen-like syndrome, B3GAT3 type MONDO:0009512 Larsen-like syndrome, lethal type, is characterised by multiple joint dislocation and respiratory insufficiency due to tracheomalacia and/or lung hypoplasia. It has been described in less than ten patients. Transmission is thought to be autosomal recessive. Brain dysplasia has been described in some patients and could result from systemic hypoxic-ischemic insults during the second half of pregnancy, although genetic factors have not been ruled out. Larsen-like multiple joint dislocation syndrome Larsen-like syndrome, lethal type lethal Larsen-like syndrome MONDO:0009513 LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. LOC syndrome Shabbir syndrome laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome laryngo-onycho-cutaneous syndrome logic syndrome LARYNGOONYCHOCUTANEOUS syndrome LOCS laryngo-onycho-cutaneous syndrome MONDO:0009514 A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy. https://github.com/monarch-initiative/mondo/issues/5588 LMS Laurence-Moon syndrome LNMS Laurence-MOON syndrome Laurence-Moon-Biedl syndrome Laurence-Moon syndrome https://rarediseases.info.nih.gov/diseases/12635/laurence-moon-syndrome MONDO:0009515 A form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme. FLD Norum disease complete LCAT deficiency lecithin acyltransferase deficiency lecithin:cholesterol acyltransferase deficiency LCAT deficiency familial LCAT deficiency Norum disease MONDO:0009516 Absence deformity of leg B cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed. leg, absence deformity of, with congenital cataract absence deformity of leg-cataract syndrome MONDO:0009517 Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome) characterized by intrauterine and mainly postnatal severe growth retardation. https://github.com/monarch-initiative/mondo/issues/5723 Donohue syndrome leprechaunism insulin receptor, defect 1N Donohue syndrome MONDO:0009518 Any leprosy in which the cause of the disease is a mutation in the TLR2 gene. https://github.com/monarch-initiative/mondo/issues/4521 TLR2 leprosy leprosy caused by mutation in TLR2 leprosy, susceptibility to leprosy, susceptibility to, 3 leprosy, susceptibility to, type 3 LPRS3 susceptibility to leprosy 3 leprosy, susceptibility to, 3 MONDO:0009519 A multifocal, multisystem form of Langerhans-cell histiocytosis. There is involvement of multiple organ systems including the bones, skin, liver, spleen, and lymph nodes. Patients are usually infants presenting with fever, hepatosplenomegaly, lymphadenopathy, bone and skin lesions, and pancytopenia. acute and disseminated Langerhans cell histiocytosis acute disseminated Langerhans cell histiocytosis letterer-Siwe disease multifocal multisystem Langerhans cell histiocytosis L-S disease histiocytosis X, acute disseminated letterer-Siwe disease MONDO:0009520 3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae. 3-OH 3-Methyl glutaric aciduria 3-hydroxy-3-methylglutaric aciduria 3-hydroxy-3-methylglutaryl-CoA lyase deficiency HMG-CoA lyase deficiency Hydroxymethylglutaric aciduria deficiency of hydroxymethylglutaryl-CoA lyase hydroxymethylglutaryl-CoA lyase deficiency HL deficiency HMG CoA lyase deficiency HMG-Coa lyase deficiency HMGCLD Hmgcl deficiency defect in leucine metabolism 3-hydroxy-3-methylglutaric aciduria MONDO:0009521 leukemia, acute myelocytic, with polyposis coli and colon cancer leukemia, acute myelocytic, with polyposis coli and colon cancer MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome is a rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961. Berlin syndrome ectodermal dysplasia, Berlin type LEUKOMELANODERMA, infantilism, intellectual disability, hypodontia, hypotrichosis LEUKOMELANODERMA, infantilism, mental retardation, hypodontia, hypotrichosis Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome MONDO:0009523 Lichstenstein syndrome is characterised by frequent infections associated with osteoporosis, a tendency for fractures and osseous anomalies. It has been described in two monozygotic twin brothers. Transmission is autosomal recessive. Lichtenstein syndrome neutropenia immunoglobulin deficiency peculiar facies and bony anomalies Lichtenstein syndrome https://rarediseases.info.nih.gov/diseases/3248/lichtenstein-syndrome MONDO:0009524 Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet). https://github.com/monarch-initiative/mondo/issues/5588 Jancar syndrome ectrodactyly, spastic paraplegia and intellectual disability ectrodactyly, spastic paraplegia and mental retardation intellectual disability spasticity ectrodactyly intellectual disability, spasticity and transverse limb defects limb defects, distal transverse, with intellectual disability and spasticity limb defects, distal transverse, with mental retardation and spasticity mental retardation spasticity ectrodactyly mental retardation, spasticity and transverse limb defects intellectual disability-spasticity-ectrodactyly syndrome https://rarediseases.info.nih.gov/diseases/3523/mental-retardation-spasticity-ectrodactyly MONDO:0009525 The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate. https://github.com/monarch-initiative/mondo/issues/3492 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 10q24 microduplication syndrome Buttiens-Fryns syndrome SHFM3 chromosome 10q24 duplication syndrome distal limb deficiencies with micrognathia split hand-foot malformation 3 split hand-foot malformation type 3 split-hand/foot malformation 3, gene duplication syndrome split-hand/foot malformation type 3 Buttiens Fryns syndrome Shsf3 chromosome 10Q24 Duplication syndrome distal limb deficiencies-micrognathia syndrome limb deficiencies distal with micrognathia limb deficiencies, distal, with micrognathia split-hand/foot malformation 3 split hand-foot malformation 3 https://rarediseases.info.nih.gov/diseases/3252/limb-deficiencies-distal-with-micrognathia MONDO:0009526 https://github.com/monarch-initiative/mondo/issues/4948 FATCO syndrome fibular aplasia, tibial campomelia, and oligosyndactyly syndrome fibular aplasia-tibial campomelia-oligosyndactyly syndrome terminal transverse defects of the limbs associated with congenital heart malformations limb deficiency-heart malformation syndrome fibular aplasia, tibial campomelia, and oligosyndactyly syndrome MONDO:0009527 A rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders. combined lipase deficiency lipase deficiency, combined LPL and HL deficiency LPL and HTGL deficiency lipase deficiency combined lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency lipase deficiency, combined https://rarediseases.info.nih.gov/diseases/10244/lipase-deficiency-combined MONDO:0009528 Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications. Anderson disease CMRD CRD chylomicron retention disease hypobetalipoproteinemia with accumulation of apolipoprotein B-like Protein in intestinal cells hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in intestinal cells lipid Transport defect of intestine chylomicron retention disease https://rarediseases.info.nih.gov/diseases/9683/chylomicron-retention-disease MONDO:0009529 Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease. DLD deficiency E3-deficient maple syrup urine disease dihydrolipoamide dehydrogenase deficiency pyruvate dehydrogenase E3 deficiency DLDD Dld deficiency E3 deficiency lipoamide dehydrogenase deficiency, lactic acidosis due to maple syrup urine disease, type 3 maple syrup urine disease, type III pyruvate dehydrogenase E3 deficiency MONDO:0009530 Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications. Urbach-Wiethe disease hyalinosis cutis et mucosae lipid proteinosis lipoid proteinosis lipoproteinosis Urbach Wiethe disease hyalinosis cutis Et mucosae lipoid proteinosis of Urbach and Wiethe lipoid proteinosis MONDO:0009532 A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip. Miller-Dieker lissencephaly syndrome Miller-Dieker syndrome lissencephaly due to 17p13.3 deletion monosomy 17p13.3 telomeric deletion 17p MDLS Miller-Dieker syndrome chromosome region chromosome 17P13.3 deletion syndrome Miller-Dieker lissencephaly syndrome MONDO:0009533 Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities. Dahlberg syndrome lymphedema-hypoparathyroidism syndrome Dahlberg Borer Newcomer syndrome hypoparathyroidism lymphedema syndrome hypoparathyroidism-lymphedema syndrome lymphedema hypoparathyroidism syndrome Dahlberg-Borer-Newcomer syndrome https://rarediseases.info.nih.gov/diseases/237/dahlberg-borer-newcomer-syndrome MONDO:0009534 lymphoblastic transformation, inhibition of chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation MONDO:0009536 lymphoblastic transformation, intrinsic defect type 1N lymphoblastic transformation, intrinsic defect IN chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation MONDO:0009537 Interstitial pneumonia characterized by the presence of bibasilar pulmonary interstitial infiltrates composed of lymphocytes and plasma cells. It may be associated with autoimmune and lymphoproliferative disorders. Signs and symptoms include fever, cough, and dyspnea. Symptomatic patients may require immunosuppressive treatment. diffuse hyperplasia of bronchus-associated lymphoid tissue lymphocytic interst. pneumonitis lymphocytic interstitial pneumonia lymphocytic interstitial pneumonitis lymphoid interstitial pneumonia LIP lymphoid interstitial pneumonia MONDO:0009538 lymphoid system deterioration, progressive lymphoid system deterioration, progressive MONDO:0009539 https://github.com/monarch-initiative/mondo/issues/4521 leukemia, acute lymphoblastic lymphoblastic leukemia, acute, with lymphomatous features lall lymphomatous All lymphoblastic leukemia, acute, with lymphomatous features MONDO:0009540 lymphokine deficiency chronic mucocutaneous candidiasis due to lymphokine deficiency MONDO:0009541 lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis MONDO:0009542 lysine malabsorption syndrome lysine malabsorption syndrome MONDO:0009543 Prominent glabella B microcephaly B hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. https://github.com/monarch-initiative/mondo/issues/5588 MacDermot-Winter syndrome Mac Dermot Winter syndrome prominent glabella microcephaly hypogenitalism prominent glabella-microcephaly-hypogenitalism syndrome https://rarediseases.info.nih.gov/diseases/144/mac-dermot-winter-syndrome MONDO:0009544 macrocephaly/megalencephaly syndrome, autosomal recessive Fryns Dereymaeker Haegeman syndrome MGCPH intellectual disability, macrocephaly, short stature and craniofacial dysmorphism mental retardation, macrocephaly, short stature and craniofacial dysmorphism macrocephaly/megalencephaly syndrome, autosomal recessive MONDO:0009545 macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance Macroepiphyseal dysplasia, McAlister coe type McAlister coe Whyte syndrome macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance https://rarediseases.info.nih.gov/diseases/173/macroepiphyseal-dysplasia-with-osteoporosis-wrinkled-skin-and-aged-appearance MONDO:0009546 macrosomia adiposa congenita macrosomia adiposa congenita MONDO:0009547 Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989. Teebi-Al Saleh-Hassoon syndrome Teebi Al-Saleh Hassoon syndrome macrosomia microphthalmia cleft palate macrosomia with lethal microphthalmia macrosomia with microphthalmia, lethal macrosomia-microphthalmia-cleft palate syndrome MONDO:0009548 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities. FHHNC with severe ocular involvement FHHNCOI Meier-Blumberg-Imahorn syndrome bilateral macular coloboma with hypercalciuria familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement hypercalciuria-bilateral macular coloboma syndrome HOMG5 Meier Blumberg Imahorn syndrome familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement hypomagnesemia 5, renal, with ocular involvement hypomagnesemia, familial, with hypercalciuria, nephrocalcinosis, and severe ocular involvement hypomagnesemia, renal, with ocular involvement idiopathic hypercalciuria with bilateral macular colobomata macular coloboma, bilateral, with hypercalciuria renal hypomagnesemia 5 with ocular involvement https://rarediseases.info.nih.gov/diseases/3451/meier-blumberg-imahorn-syndrome MONDO:0009549 Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy, characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years. An overlap with Leber congenital amaurosis (LCA) occurs when patients are characterized by their visual acuity and panretinal dystrophy. https://github.com/monarch-initiative/mondo/issues/5693 EOSRD SECORD Stargardt disease type 1 early-onset severe retinal dystrophy STGD1 Stargardt disease 1 Stgd fundus flavimaculatus macular Degeneration, juvenile macular dystrophy with flecks, type 1 retinal dystrophy, early-onset severe severe early-childhood-onset retinal dystrophy MONDO:0009550 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure. CLDN16 familial primary hypomagnesemia CLDN16 primary hypomagnesemia FHHNC without severe ocular involvement HOMG3 familial primary hypomagnesemia caused by mutation in CLDN16 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement isolated renal hypomagnesemia primary hypomagnesemia caused by mutation in CLDN16 primary hypomagnesemia due to defect in renal tubular transport of magnesium renal hypomagnesemia type 3 hypercalciuria, childhood, self-limiting hypomagnesemia 3, renal hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis hypercalciuria, childhood, self-limiting, included hypomagnesemia, isolated renal hypomagnesemia, primary, due to defect in renal tubular Transport Of magnesium hypomagnesemia, primary, due to defect in renal tubular Transport of magnesium magnesium, defect in renal tubular transport of renal hypomagnesemia 3 MONDO:0009551 magnesium, elevated red cell magnesium, elevated red cell MONDO:0009552 Mal de Melada (MdM) is a diffuse palmoplantar keratoderma initially reported from of the Island of Meleda characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgradiens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema. Meleda disease keratosis palmoplantaris transgrediens of Siemens mal de Meleda transgrediens palmoplantar keratoderma of Siemens MAL DE Meleda MDM keratosis palmoplantaris transgradiens of Siemens mal de Meleda MONDO:0009554 Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC10 gene. 3MC syndrome 3 3MC syndrome caused by mutation in COLEC10 3MC syndrome type 3 3Mc syndrome type 3 COLEC10 3MC syndrome 3MC3 Malpuech Facial clefting syndrome Malpuech Facial clefting syndrome, formerly facial clefting syndrome, Gypsy type 3MC syndrome 3 MONDO:0009555 malocclusion and short stature malocclusion and short stature MONDO:0009556 Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD). https://github.com/monarch-initiative/mondo/issues/4985 malonic aciduria malonyl-CoA decarboxylase deficiency MCD deficiency Malonicaciduria malonic acidemia malonic aciduria MONDO:0009557 A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 mandibuloacral dysplasia mandibuloacral dysplasia with type A lipodystrophy MADA MANDIBULOACRAL dysplasia with type A lipodystrophy Mandibuloacral dysplasia with type a lipodystrophy, atypical craniomandibular Dermatodysostosis lipodystrophy, type A, associated with Mandibuloacral dysplasia mandibuloacral dysplasia with type A lipodystrophy https://rarediseases.info.nih.gov/diseases/3374/mandibuloacral-dysplasia-with-type-a-lipodystrophy MONDO:0009558 Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1C gene. https://github.com/monarch-initiative/mondo/issues/4948 POLR1C Treacher-Collins syndrome Treacher Collins syndrome 3 Treacher Collins syndrome type 3 Treacher-Collins syndrome caused by mutation in POLR1C TCS3 TREACHER COLLINS syndrome 3 mandibulofacial dysostosis, Treacher Collins type, autosomal recessive Treacher Collins syndrome 3 https://rarediseases.info.nih.gov/diseases/9125/treacher-collins-syndrome-3 MONDO:0009559 mandibulofacial dysostosis with mental deficiency mandibulofacial dysostosis with intellectual disability mandibulofacial dysostosis with mental retardation mandibulofacial dysostosis with mental deficiency MONDO:0009560 MOTA syndrome Manitoba oculotrichoanal syndrome Marles syndrome Marles-Greenberg-Persaud syndrome MANITOBA oculotrichoanal syndrome MOTA Manitoba Trichoanal syndrome unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies oculotrichoanal syndrome MONDO:0009561 Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 Alpha-D-mannosidosis alpha-mannosidase deficiency alpha-mannosidosis deficiency of alpha-mannosidase lysosomal alpha-D-mannosidase deficiency mannosidosis, alpha-, types I and II Alpha mannosidase B deficiency Alpha-mannosidase B deficiency MANSA lysosomal Alpha-D-mannosidase deficiency mannosidosis, ALPHA B, lysosomal mannosidosis, alpha B lysosomal alpha-mannosidosis https://rarediseases.info.nih.gov/diseases/6968/alpha-mannosidosis MONDO:0009562 Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 Beta-D-mannosidosis Beta-mannosidase deficiency beta-mannosidase deficiency beta-mannosidosis lysosomal beta-mannosidase deficiency mannosidosis, beta MANSB lysosomal Beta-mannosidase deficiency mannosidosis, BETA A, lysosomal beta-mannosidosis MONDO:0009563 An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death. https://github.com/monarch-initiative/mondo/issues/4521 BCKD deficiency BCKDH deficiency Ketoacidaemia MSUD branched chain ketoaciduria branched-chain 2-ketoacid dehydrogenase deficiency branched-chain ketoaciduria maple syrup urine disease maple syrup urine disease, type IA maple syrup urine disease, type IB maple syrup urine disease, type II maple syrup urine disease, type 1A maple syrup urine disease, type 1B maple syrup urine disease, type 2 Keto acid decarboxylase deficiency branched-chain Alpha-Keto acid dehydrogenase deficiency dihydrolipoamide dehydrogenase deficiency maple syrup urine disease, Intermediate maple syrup urine disease, classic maple syrup urine disease, intermittent maple syrup urine disease, thiamine-responsive Editor note: genetic subtypes rolled into one OMIM entry. GARD treats as distinct maple syrup urine disease MONDO:0009564 Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly. https://github.com/monarch-initiative/mondo/issues/5588 Marden-Walker syndrome MARDEN-WALKER syndrome MWKS Mws connective tissue disorder Marden Walker type Marden-Walker syndrome MONDO:0009565 This syndrome is characterised by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. https://github.com/monarch-initiative/mondo/issues/5588 MARFANOID habitus with microcephaly and glomerulonephritis microcephaly glomerulonephritis Marfanoid habitus microcephaly-glomerulonephritis-marfanoid habitus syndrome https://rarediseases.info.nih.gov/diseases/3615/microcephaly-glomerulonephritis-marfanoid-habitus MONDO:0009566 Marfanoid habitus B intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit. https://github.com/monarch-initiative/mondo/issues/5588 MARFANOID intellectual disability syndrome, autosomal MARFANOID mental retardation syndrome, autosomal Marfanoid intellectual disability syndrome autosomal Marfanoid mental retardation syndrome autosomal marfanoid habitus-autosomal recessive intellectual disability syndrome MONDO:0009567 Marinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development. MSS Garland-Moorhouse syndrome Marinesco-Garland syndrome Marinesco-Sjogren syndrome hereditary oligophrenic cerebello-lental degeneration oligophrenic cerebellolenticular degeneration Marinesco-Sjogren syndrome-Hypergonadotrophic hypogonadism Marinesco-Sjogren syndrome-myopathy Marinesco-Sjogren-Garland syndrome Marinesco-Sjögren syndrome Marinesco-Sjogren syndrome MONDO:0009568 Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging. Mast syndrome SPG21 autosomal recessive spastic paraplegia 21 autosomal recessive spastic paraplegia type 21 hereditary spastic paraplegia 21 mast syndrome spastic paraplegia 21, autosomal recessive mast syndrome MONDO:0009569 Hennekam-Beemer syndrome is characterized by the association of skin mastocytosis (appearing as diffuse pigmentation), short stature, microcephaly, conductive hearing loss, and dysmorphic features. It has been described in only two (female) cases: one with normal mental development born to consanguineous parents and the other with severe psychomotor retardation born to unrelated parents. The mode of inheritance is most likely autosomal recessive. mastocytosis-short stature-hearing loss syndrome Hennekam Beemer syndrome cutaneous mastocytosis, conductive hearing loss and microtia mastocytosis cutaneous with short stature conductive hearing loss and microtia skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe intellectual disability skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe mental retardation Hennekam-Beemer syndrome https://rarediseases.info.nih.gov/diseases/3409/mastocytosis-cutaneous-with-short-stature-conductive-hearing-loss-and-microtia MONDO:0009570 A rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphsim (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism. https://github.com/monarch-initiative/mondo/issues/5588 McDonough syndrome intellectual disability, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect mental retardation, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect McDonough syndrome https://rarediseases.info.nih.gov/diseases/3424/mcdonough-syndrome MONDO:0009571 Any Meckel syndrome in which the cause of the disease is a mutation in the MKS1 gene. https://github.com/monarch-initiative/mondo/issues/4948 MKS1 MKS1 Meckel syndrome Meckel syndrome caused by mutation in MKS1 Meckel syndrome, type 1 Meckel-Gruber syndrome, type 1 Dysencephalia Splanchnocystica Dysencephalia splachnocystica Gruber syndrome MKS Meckel Gruber syndrome Meckel syndrome Meckel syndrome 1 Meckel syndrome type1 Meckel-Gruber syndrome Mes Meckel syndrome, type 1 MONDO:0009572 Autosomal recessive form of familial Mediterranean fever. https://github.com/monarch-initiative/mondo/issues/4521 autosomal recessive familial Mediterranean fever familial Mediterranean fever, AR familial Mediterranean fever, autosomal recessive FMF familial MEDITERRANEAN FEVER familial Mediterranean fever polyserositis, familial paroxysmal polyserositis, recurrent autosomal recessive familial Mediterranean fever MONDO:0009573 megaepiphyseal dwarfism megaepiphyseal dwarfism https://rarediseases.info.nih.gov/diseases/3444/megaepiphyseal-dwarfism MONDO:0009574 megalencephaly with dysmyelination megalencephaly with diffuse white matter hypodensity megalencephaly with dysmyelination MONDO:0009575 Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness. https://github.com/monarch-initiative/mondo/issues/5723 Rogers syndrome THMD1 TRMA thiamine metabolism dysfunction syndrome 1 thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus and deafness type) thiamine-responsive anemia syndrome thiamine-responsive megaloblastic anemia syndrome thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness thiamine-responsive myelodysplasia megaloblastic Anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness megaloblastic anemia thiamine-responsive with diabetes mellitus and sensorineural deafness thiamine metabolism dysfunction syndrome 1 (megaloblastic Anemia, diabetes mellitus, and deafness type) thiamine responsive megaloblastic anemia syndrome thiamine-responsive Anemia syndrome thiamine-responsive megaloblastic anemia syndrome https://rarediseases.info.nih.gov/diseases/9210/thiamine-responsive-megaloblastic-anemia-syndrome MONDO:0009576 megalocornea (disease) anterior megalophthalmos megalocornea megalocornea (disease) megalocornea MONDO:0009577 Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported. https://github.com/monarch-initiative/mondo/issues/5588 MMR syndrome NeuhC$user syndrome Neuhäuser syndrome megalocornea-intellectual disability syndrome Neuhauser syndrome megalocornea intellectual disability syndrome megalocornea mental retardation syndrome megalocornea-mental retardation syndrome megalocornea-intellectual disability syndrome https://rarediseases.info.nih.gov/diseases/3448/megalocornea-intellectual-disability-syndrome MONDO:0009578 Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death. https://github.com/monarch-initiative/mondo/issues/4521 NCM neurocutaneous melanosis neurocutaneous melanosis, somatic NCMS Neuromelanosis melanosis, neurocutaneous neurocutaneous melanosis syndrome neurocutaneous melanocytosis MONDO:0009579 A syndrome defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay. https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5000 https://github.com/monarch-initiative/mondo/issues/5001 Borrone Dermatocardioskeletal syndrome Borrone di Rocco Crovato syndrome Frank-Ter Haar syndrome Ter Haar syndrome Borrone dermatocardioskeletal syndrome FRANK-TER Haar syndrome FTHS Frank Ter Haar syndrome Melnick-Needles syndrome, autosomal recessive Melnick-Needles syndrome, autosomal recessive, formerly autosomal recessive Melnick-Needles syndrome (formerly) megalocornea, multiple skeletal anomalies, and developmental delay Frank-Ter Haar syndrome https://rarediseases.info.nih.gov/diseases/5138/frank-ter-haar-syndrome https://rarediseases.info.nih.gov/diseases/939/borrone-di-rocco-crovato-syndrome MONDO:0009580 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PRSS12 gene. PRSS12 autosomal recessive non-syndromic intellectual disability autosomal recessive non-syndromic intellectual disability caused by mutation in PRSS12 intellectual disability, autosomal recessive 1 intellectual disability, autosomal recessive type 1 mental retardation, autosomal recessive type 1 MRT1 mental retardation, autosomal recessive 1 intellectual disability, autosomal recessive 1 MONDO:0009581 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome is characterised by moderate intellectual deficit, craniofacial dysmorphism (including broad nose with coloboma of the alea nasi, deep-set eyes, prognathism), hypergonadotropic hypogonadism, eunuchoid habitus, type 1 diabetes mellitus, and epilepsy. It has been described in four patients (three brothers and their sister). This syndrome is probably transmitted as an autosomal recessive trait. https://github.com/monarch-initiative/mondo/issues/5588 Belgian type intellectual disability syndrome Belgian type mental retardation syndrome intellectual disability syndrome, Belgian type mental retardation syndrome, Belgian type intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome https://rarediseases.info.nih.gov/diseases/9811/intellectual-disability-dysmorphism-hypogonadism-diabetes-mellitus-syndrome MONDO:0009582 Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii. intellectual disability, Mietens-Weber type Mietens-Weber syndrome corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and intellectual disability corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and mental retardation intellectual disability syndrome, Mietens Weber type intellectual disability syndrome, Mietens-WEBER type mental retardation syndrome, Mietens Weber type mental retardation syndrome, Mietens-WEBER type Mietens syndrome MONDO:0009583 Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. BMRS, Ohdo type Ohdo syndrome Ohdo-Madokoro-Sonoda syndrome blepharophimosis syndrome, Ohdo type Ohdo blepharophimosis syndrome intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth blepharophimosis - intellectual disability syndrome, Ohdo type MONDO:0009584 Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe. https://github.com/monarch-initiative/mondo/issues/5588 Mutchinick syndrome intellectual deficit Buenos-Aires type intellectual disability Buenos Aires type intellectual disability, Buenos Aires type mental retardation Buenos Aires type mental retardation, Buenos Aires type intellectual disability, Buenos-Aires type https://rarediseases.info.nih.gov/diseases/3485/intellectual-deficit-buenos-aires-type MONDO:0009585 3-mercaptopyruvate sulfurtransferase deficiency Ampola syndrome Beta-mercaptolactate cysteine disulfiduria MCDU disulfiduria, mixed mercaptolactate-cysteine disulfiduria encephalopathy due to beta-mercaptolactate-cysteine disulfiduria MONDO:0009586 mesangial sclerosis, diffuse renal, with ocular abnormalities mesangial sclerosis, diffuse renal, with ocular abnormalities MONDO:0009587 mesoaxial hexadactyly and cardiac malformation Mexican Cardiomelic dysplasia mesoaxial hexadactyly and cardiac malformation MONDO:0009588 Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 Langer mesomelic dysplasia Langer syndrome Langer type mesomelic dysplasia langer mesomelic dysplasia, pseudoautosomal recessive mesomelic dwarfism, Langer type LMD dyschondrosteosis, homozygous mesomelic dwarfism of the hypoplastic ulna, fibula and mandible type mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type Langer mesomelic dysplasia https://rarediseases.info.nih.gov/diseases/3553/langer-mesomelic-dysplasia MONDO:0009589 Mesomelic dwarfism-cleft palate-camptodactyly syndrome is characterised by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive. https://github.com/monarch-initiative/mondo/issues/4948 Reardon-Hall-Slaney syndrome mesomelic dysplasia, Kozlowski-Reardon type mesomelic dysplasia, Reardon type mesomelic dwarfism cleft palate camptodactyly mesomelic limb shortening and bowing mesomelic dwarfism-cleft palate-camptodactyly syndrome https://rarediseases.info.nih.gov/diseases/3552/mesomelic-dwarfism-cleft-palate-camptodactyly MONDO:0009590 https://github.com/monarch-initiative/mondo/issues/4521 metachromatic leukodystrophy due to sap-B deficiency metachromatic leukodystrophy due to saposin b deficiency metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency saposin B deficiency metachromatic leukodystrophy due to saposin B deficiency https://rarediseases.info.nih.gov/diseases/10674/metachromatic-leukodystrophy-due-to-saposin-b-deficiency MONDO:0009591 Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin.Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes. MLD, juvenile form arylsulfatase A deficiency, juvenile form metachromatic leukodystrophy, juvenile form ARSA deficiency MLD Mld arylsulfatase A deficiency cerebral sclerosis diffuse metachromatic form cerebral sclerosis, diffuse, metachromatic form cerebroside sulfatase deficiency leukodystrophy metachromatic metachromatic leukodystrophy metachromatic leukodystrophy, adult metachromatic leukodystrophy, juvenile metachromatic leukodystrophy, late infantile metachromatic leukoencephalopathy pseudoarylsulfatase A deficiency sulfatide lipidosis metachromatic leukodystrophy, juvenile form MONDO:0009592 Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases. Bellini syndrome intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome metaphyseal acroscyphodysplasia Bellini Chiumello Rimoldi syndrome cupped metaphyses and cone-Shaped epiphyses of knees with brachydactyly wedge-Shaped epiphyses of knees wedge-shaped epiphyses of knees wedge-shaped epiphyses of the knees with intellectual disability and short stature wedge-shaped epiphyses of the knees with mental retardation and short stature metaphyseal acroscyphodysplasia https://rarediseases.info.nih.gov/diseases/3519/metaphyseal-acroscyphodysplasia MONDO:0009593 Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly. https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/4985 spondylometaphyseal dysplasia, Sedaghatian type SMDS Sedaghatian chondrodysplasia lethal metaphyseal dysplasia metaphyseal chondrodysplasia, congenital lethal spondylometaphyseal dysplasia Sedaghatian type spondylometaphyseal dysplasia, Sedaghatian type https://rarediseases.info.nih.gov/diseases/4993/spondylometaphyseal-dysplasia-sedaghatian-type MONDO:0009594 Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982. metaphyseal chondrodysplasia, Kaitila type metaphyseal chondrodysplasia, Kaitila type MONDO:0009595 Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth. https://github.com/monarch-initiative/mondo/issues/4948 McKusick type metaphyseal chondrodysplasia autosomal recessive metaphyseal chondrodysplasia cartilage hair hypoplasia cartilage-hair hypoplasia metaphyseal chondrodysplasia, McKusick type CHH cartilage hair hypoplasia like syndrome metaphyseal chondrodysplasia McKusick type metaphyseal chondrodysplasia, Mckusick type cartilage-hair hypoplasia https://rarediseases.info.nih.gov/diseases/6996/cartilage-hair-hypoplasia MONDO:0009596 metaphyseal chondrodysplasia, Pena type metaphyseal chondrodysplasia, Pena type MONDO:0009597 https://github.com/monarch-initiative/mondo/issues/4948 metaphyseal chondrodysplasia, Spahr type MDST Spahr type metaphyseal chondrodysplasia metaphyseal chondrodysplasia Spahr type metaphyseal dysplasia, Spahr type metaphyseal chondrodysplasia, Spahr type MONDO:0009598 RPSKA brachydactyly-short stature-retinitis pigmentosa syndrome metaphyseal chondrodysplasia with retinitis pigmentosa retinitis pigmentosa with or without skeletal anomalies metaphyseal chondrodysplasia-retinitis pigmentosa syndrome MONDO:0009599 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterised by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive. https://github.com/monarch-initiative/mondo/issues/5588 metaphyseal dysostosis intellectual disability conductive deafness metaphyseal dysostosis mental retardation conductive deafness metaphyseal dysostosis, conductive hearing loss and intellectual disability metaphyseal dysostosis, conductive hearing loss and mental retardation metaphyseal dysostosis, intellectual disability, and conductive deafness metaphyseal dysostosis, mental retardation, and conductive deafness metaphyseal dysostosis-intellectual disability-conductive deafness syndrome https://rarediseases.info.nih.gov/diseases/3566/metaphyseal-dysostosis-mental-retardation-conductive-deafness MONDO:0009600 metaphyseal dysplasia, anetoderma, and optic atrophy metaphyseal dysplasia, anetoderma, and optic atrophy MONDO:0009601 metaphyseal dysplasia without hypotrichosis CHHV MDWH cartilage-hair hypoplasia variant, skeletal manifestations only cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency metaphyseal dysplasia without hypotrichosis https://rarediseases.info.nih.gov/diseases/10622/metaphyseal-dysplasia-without-hypotrichosis MONDO:0009602 metaphyseal modeling abnormality, skin lesions, and spastic paraplegia Roy Maroteaux Kremp syndrome metaphyseal modeling abnormality, skin lesions, and spastic paraplegia MONDO:0009603 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4985 3-hydroxyisobutryl-CoA hydrolase deficiency 3-hydroxyisobutyryl-CoA hydrolase deficiency HIBCH deficiency methacrylic aciduria neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency Beta-hydroxyisobutyryl-CoA deacylase deficiency HIBCHD beta-hydroxyisobutyryl Coa deacylase deficiency methacrylic acid toxicity valine metabolic defect 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0009604 methemoglobin reductase deficiency NADPH-dependent methemoglobin reductase deficiency TPNH-methemoglobin reductase deficiency methemoglobin reductase deficiency MONDO:0009605 Any methemoglobinemia in which the cause of the disease is a mutation in the CYB5A gene. CYB5A methemoglobinemia methemoglobinemia caused by mutation in CYB5A methemoglobinemia type 4 METAG isolated 17,20-lyase deficiency, Pure methemoglobinemia and ambiguous genitalia methemoglobinemia due to deficiency of cytochrome B5 methemoglobinemia due to deficiency of cytochrome B5, formerly methemoglobinemia type IV methemoglobinemia type IV, formerly methemoglobinemia type 4 MONDO:0009606 https://github.com/monarch-initiative/mondo/issues/4521 methemoglobinemia due to deficiency of methemoglobin reductase methemoglobinemia, type I methemoglobinemia, type II NADH cytochrome B5 reductase deficiency NADH diaphorase deficiency NADH methemoglobin reductase deficiency NADH-cytochrome B5 reductase deficiency NADH-cytochrome B5 reductase deficiency, type 1 NADH-cytochrome B5 reductase deficiency, type 2 NADH-dependent methemoglobin reductase deficiency methemoglobinemia, congenital, autosomal recessive methemoglobinemia, type 1 methemoglobinemia, type 2 methemoglobinemia due to deficiency of methemoglobin reductase MONDO:0009607 Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination. https://github.com/monarch-initiative/mondo/issues/4521 MAT I/III deficiency MAT deficiency brain demyelination due to methionine adenosyltransferase deficiency hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency isolated persistent hypermethioninemia methionine adenosyltransferase deficiency methionine adenosyltransferase deficiency, autosomal recessive Mat I/III deficiency hypermethioninemia, isolated persistent methionine adenosyltransferase I/III deficiency methionine adenosyltransferase deficiency MONDO:0009608 methionine malabsorption syndrome Smith-strang disease oasthouse urine disease methionine malabsorption syndrome MONDO:0009609 Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine. functional methionine synthase deficiency type cblG methylcobalamin deficiency type cblG HMAG cblG homocystinuria due to defect in methylation Cbl g homocystinuria-megaloblastic Anemia due to defect in cobalamin metabolism, cblG complementation type homocystinuria-megaloblastic anemia, cblG complementation type methionine synthase deficiency methylcobalamin deficiency Cbl G type methylcobalamin deficiency, cblG type methylmalonic aciduria and homocystinuria type cblG methylcobalamin deficiency type cblG https://rarediseases.info.nih.gov/diseases/3577/methylcobalamin-deficiency-cbl-g-type MONDO:0009610 3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia. https://github.com/monarch-initiative/mondo/issues/4985 3-methylglutaconic aciduria caused by mutation in AUH 3-methylglutaconic aciduria caused by mutation in auh 3-methylglutaconic aciduria type 1 3-methylglutaconic aciduria type I 3-methylglutaconyl-CoA hydratase deficiency 3MG-CoA hydratase deficiency AUH 3-methylglutaconic aciduria MGA type I MGA1 auh 3-methylglutaconic aciduria 3 alpha methylglutaconic aciduria type I 3 methylglutaconic aciduria type 1 3 methylglutaconyl CoA hydratase deficiency 3-METHYLGLUTACONIC aciduria, type I 3-MGCA type I (3-MGCA-1) 3-Methylglutaconic aciduria, type 1 3-Mg-Coa-hydratase deficiency 3-methylglutaconyl-CoA hydratase deficiency (auh defect) 3-methylglutaconyl-Coa hydratase deficiency 3MG CoA hydratase deficiency MGCA1 Mga, type 1 3-methylglutaconic aciduria type 1 MONDO:0009611 3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterised by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III). 3-methylglutaconic aciduria type IV MGA type IV MGA4 MGCA4 3 alpha methylglutaconic aciduria type IV 3 methylglutaconic aciduria type IV 3-METHYLGLUTACONIC aciduria, type IV 3-Methylglutaconic aciduria, type 4 Mga, type 4 Not otherwise specified 3-MGA-Uria type 3-methylglutaconic aciduria type 4 https://rarediseases.info.nih.gov/diseases/10342/not-otherwise-specified-3-mga-uria-type MONDO:0009612 Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut-. methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency methylmalonic aciduria mut type methylmalonyl-CoA mutase deficiency methylmalonyl-Coenzyme A mutase deficiency vitamin B12-unresponsive methylmalonic aciduria MCM deficiency methylmalonic acidemia due to methylmalonyl-Coa mutase deficiency MMA due to MCM deficiency methylmalonic aciduria, mut type methylmalonic aciduria, mut(-) type methylmalonic aciduria, mut(0) type vitamin B12-unresponsive methylmalonic acidemia methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:0009613 An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4917 Methylmalonic aciduria, vitamin B12-responsive, cblA type cobalamin A disease cobalamin B disease methylmalonic acidemia cblA type methylmalonic acidemia, cblA type methylmalonic aciduria cblA type methylmalonic aciduria, cblA type methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cblA type vitamin B12-responsive methylmalonic acidemia type cblA vitamin B12-responsive methylmalonic aciduria type cblA MMA Cbl A type cblA - cobalamin locus a cblA methylmalonic acidemia cblB - cobalamin locus b cblB methylmalonic acidemia cobalamin locus A variant cobalamin locus B variant methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA complementation type methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type methylmalonic aciduria, cblA type MONDO:0009614 An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4916 methylmalonic acidemia cblB type methylmalonic acidemia, cblB type methylmalonic aciduria cblB type methylmalonic aciduria, cblB type methylmalonic aciduria, vitamin B12-responsive, cblB type methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type vitamin B12-responsive methylmalonic acidemia type cblB vitamin B12-responsive methylmalonic aciduria, type cblB methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type methylmalonic aciduria, cblB type MONDO:0009615 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic. https://github.com/monarch-initiative/mondo/issues/4985 MCEE deficiency methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency methylmalonic aciduria III methylmalonic aciduria III, formerly methylmalonyl-CoA epimerase deficiency methylmalonyl-Coa epimerase deficiency with sepiapterin reductase deficiency methylmalonyl-Coa racemase deficiency methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency MONDO:0009616 Microcephalic primordial dwarfism, Toriello type is characterised by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive. microcephalic primordial dwarfism, Toriello type microcephalic primordial dwarfism Toriello type microcephalic primordial dwarfism and cataracts microcephalic primordial dwarfism, Toriello type https://rarediseases.info.nih.gov/diseases/3602/microcephalic-primordial-dwarfism-toriello-type MONDO:0009617 Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the MCPH1 gene. MCPH1 autosomal recessive primary microcephaly autosomal recessive primary microcephaly caused by mutation in MCPH1 microcephaly 1, primary, autosomal recessive MCPH1 PCC syndrome premature chromosome condensation syndrome premature chromosome condensation with microcephaly and intellectual disability premature chromosome condensation with microcephaly and mental retardation microcephaly 1, primary, autosomal recessive MONDO:0009618 A syndrome characterised by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive. https://github.com/monarch-initiative/mondo/issues/5588 Winship-Viljoen-Leary syndrome microcephaly with cardiomyopathy microcephaly-cardiomyopathy severe microcephaly and self-limiting dilated cardiomyopathy severe microcephaly with intellectual disability and dilated cardiomyopathy severe microcephaly with mental retardation and dilated cardiomyopathy microcephaly-cardiomyopathy syndrome MONDO:0009619 microcephaly-micromelia syndrome MIMIS microcephaly-micromelia syndrome MONDO:0009620 Say-Barber-Miller syndrome is characterised by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation. https://github.com/monarch-initiative/mondo/issues/5588 microcephaly-hypogammaglobulinemia-abnormal immunity syndrome Say Barber Miller syndrome microcephaly hypogammaglobulinemia abnormal immunity microcephaly with chemotactic defect and transient hypogammaglobulinemia Say-Barber-Miller syndrome https://rarediseases.info.nih.gov/diseases/239/say-barber-miller-syndrome MONDO:0009621 Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive. https://github.com/monarch-initiative/mondo/issues/5588 microcephaly cervical spine fusion anomalies microcephaly with cervical spine fusion anomalies microcephaly, mild intellectual disability, short stature, and skeletal anomalies microcephaly, mild mental retardation, short stature, and skeletal anomalies microcephaly-cervical spine fusion anomalies syndrome MONDO:0009622 Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated. Jawad syndrome JAWAD syndrome JWDS Kelly syndrome microcephaly with intellectual disability and digital anomalies microcephaly with mental retardation and digital anomalies Jawad syndrome MONDO:0009623 Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections. AT V1 Berlin breakage syndrome NBs Nijmegen breakage syndrome Seemanova syndrome Seemanova syndrome type 2 ataxia-telangiectasia, variant 1 immunodeficiency-microcephaly-chromosomal instability syndrome microcephaly, normal intelligence and immunodeficiency microcephaly-immunodeficiency-lymphoreticuloma syndrome Nonsyndromal microcephaly autosomal recessive with normal intelligence Nonsyndromal microcephaly, autosomal recessive, with normal intelligence Seemanova syndrome 2 ataxia-telangiectasia variant V1 ataxia-telangiectasia variant V2 immunodeficiency, microcephaly, and chromosomal instability microcephaly immunodeficiency lymphoreticuloma microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies Nijmegen breakage syndrome https://rarediseases.info.nih.gov/diseases/3904/nijmegen-breakage-syndrome MONDO:0009624 An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy. Pseudotoxoplasmosis syndrome TUBGCP6 microcephaly and chorioretinopathy autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome microcephaly and chorioretinopathy 1 microcephaly and chorioretinopathy caused by mutation in TUBGCP6 microcephaly and chorioretinopathy type 1 microcephaly and chorioretinopathy, autosomal recessive, type 1 MCCRP1 autosomal recessive chorioretinopathy-microcephaly syndrome microcephaly and chorioretinopathy, autosomal recessive, 1 microcephaly and chorioretinopathy 1 MONDO:0009625 DMJDS1 microcephaly with spastic quadriplegia MISSBC microcephaly, seizures, spasticity, and brain calcifications recessive microcephaly with spastic quadriplegia diencephalic-mesencephalic junction dysplasia syndrome 1 https://rarediseases.info.nih.gov/diseases/8510/microcephaly-with-spastic-quadriplegia MONDO:0009626 A Mendelian disease characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent. BLC-PMG Baraitser-Brett-Piesowicz syndrome Baraitser-Reardon syndrome band-like calcification with simplified gyration and polymicrogyria bilateral band-like calcification with polymicrogyria microcephaly-intracranial calcification-intellectual disability syndrome pseudo-TORCH syndrome BLCPMG Baraitser Brett Piesowicz syndrome congenital intrauterine infection-like syndrome microcephaly - intracranial calcification - intellectual disability microcephaly intracranial calcification pseudo-TORCH syndrome MONDO:0009627 Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies. https://github.com/monarch-initiative/mondo/issues/5588 Galloway syndrome Galloway-Mowat syndrome microcephaly, hiatal hernia and nephrotic syndrome microcephaly-hiatus hernia-nephrotic syndrome nephrosis-microcephaly syndrome nephrosis-neuronal dysmigration syndrome spinocerebellar ataxia, autosomal recessive 5 GAMOS Galloway Mowat syndrome cerebellar ataxia with intellectual disability, optic atrophy, and skin abnormalities cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities hiatal hernia-microcephaly-nephrosis, Galloway type microcephaly nephrosis syndrome microcephaly, hiatal hernia, and nephrotic syndrome nephrosis neuronal dysmigration syndrome spinocerebellar ataxia, autosomal recessive 5, formerly Galloway-Mowat syndrome MONDO:0009629 Any Desbuquois dysplasia in which the cause of the disease is a mutation in the CANT1 gene. https://github.com/monarch-initiative/mondo/issues/4948 CANT1 Desbuquois dysplasia Desbuquois dysplasia 1 Desbuquois dysplasia caused by mutation in CANT1 Desbuquois dysplasia type 1 DBQD1 Desbuquois dysplasia, Kim variant desbuquois syndrome micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification Desbuquois dysplasia 1 MONDO:0009630 microphthalmia, isolated, with coloboma 4 microphthalmia, isolated, with coloboma type 4 MCOPCB4 microphthalmia with colobomatous cyst microphthalmia, isolated, with coloboma 4 MONDO:0009631 A microphthalmia that has material basis in variation in the chromosomal region 14q32. MCOP1 isolated microphthalmia type 1 Mcop anophthalmia, clinical, isolated microphthalmia, isolated 1 microphthalmos, autosomal recessive isolated microphthalmia 1 MONDO:0009632 microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies MONDO:0009633 https://github.com/monarch-initiative/mondo/issues/5787 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma MSPKA microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma MONDO:0009634 microtia with meatal atresia and conductive deafness Gupta Patton syndrome familial microtia and meatal atresia familial microtia with meatal atresia and conductive deafness microtia meatal atresia deafness dominant microtia, meatal atresia and conductive deafness microtia with meatal atresia and conductive deafness MONDO:0009635 Microvillus inclusion disease (MVID) is a very rare, severe, malabsorbative syndrome characterized clinically by protracted or intractable neonatal secretory diarrhea and histologically by inclusion bodies on the intestinal epithelium. Davidson disease MVD MVID MYO5B secretory diarrhea congenital familial protracted diarrhea with enterocyte brush-border abnormalities congenital microvillous atrophy congenital microvillus atrophy diarrhea 2 with microvillus atrophy microvillous inclusion disease microvillus inclusion disease secretory diarrhea caused by mutation in MYO5B DIAR2 Davidson's disease congenital familial protracted diarrhea congenital familial protracted diarrhea with enterocyte Brush-border abnormalities diarrhea 2, with microvillus atrophy familial enteropathy, microvillus intractable diarrhea of infancy microvillus atrophy, congenital microvillus inclusion disease MONDO:0009636 Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the DGUOK gene. DGUOK mitochondrial DNA depletion syndrome mitochondrial DNA depletion syndrome 3 mitochondrial DNA depletion syndrome caused by mutation in DGUOK mitochondrial DNA depletion syndrome type 3 MTDPS3 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency mitochondrial DNA depletion syndrome 3 MONDO:0009637 Myopathy caused by mitochondrial abnormalities. mitochondrial cytopathy mitochondrial myopathy inborn mitochondrial myopathy MONDO:0009638 mitochondrial myopathy with a defect in mitochondrial-protein transport mitochondrial myopathy with a defect in mitochondrial-protein transport MONDO:0009642 Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas. https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5588 MOHR syndrome Mohr syndrome OFD2 oral-facial-digital syndrome type 2 OFD syndrome 2 Ofds 2 oral facial digital syndrome 2 oral facial digital syndrome type 2 oral-Facial-digital syndrome, type 2 orofaciodigital syndrome 2 orofaciodigital syndrome II orofaciodigital syndrome type 2 orofaciodigital syndrome type II MONDO:0009643 https://github.com/monarch-initiative/mondo/issues/4521 MOCOD type A MOCODA combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A molybdenum cofactor deficiency A molybdenum cofactor deficiency complementation group A molybdenum cofactor deficiency, complementation group type a molybdenum cofactor deficiency type A molybdenum cofactor deficiency, complementation group A sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of sulfite oxidase deficiency due to molybdenum cofactor deficiency type A MONDO:0009644 https://github.com/monarch-initiative/mondo/issues/4521 MOCOD type B MOCODB combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B molybdenum cofactor deficiency B molybdenum cofactor deficiency complementation group B molybdenum cofactor deficiency, complementation group type B sulfite oxidase deficiency due to molybdenum cofactor deficiency type B molybdenum cofactor deficiency type B molybdenum cofactor deficiency, complementation group B sulfite oxidase deficiency due to molybdenum cofactor deficiency type B MONDO:0009645 monocyte chemotactic disorder chronic mucocutaneous candidiasis due to monocyte chemotactic disorder MONDO:0009646 M7MLS1 chromosome 7Q deletion monosomy 7 of bone marrow myelodysplasia and leukemia syndrome with monosomy 7 Monosomy 7 myelodysplasia and leukemia syndrome 1 MONDO:0009647 Morquio syndrome C Morquio syndrome type C Morquio syndrome, Nonkeratosulfate-Excreting type Morquio syndrome C MONDO:0009648 Peripheral motor neuropathy-dysautonomia syndrome is characterised by distal, slowly progressive muscular weakness, childhood-onset amyotrophy, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal achalasia. It has been described in two sisters. Inheritance appears to be autosomal recessive. Lisker-Garcia-Ramos syndrome motor neuropathy, peripheral, with dysautonomia peripheral motor neuropathy-dysautonomia syndrome MONDO:0009649 MYMY1 Moyamoya disease Moyamoya disease 1 spontaneous occlusion of the circle of Willis moyamoya disease 1 MONDO:0009650 Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly. https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5565 I-cell disease N-acetylglucosamine 1-phosphotransferase deficiency mucolipidosis II mucolipidosis type II mucolipidosis type II alpha/beta GNPTA I cell disease Leroy disease ML 2 ML 2 Alpha/Beta ML disorder type 2 N-acetylglucosamine 1phosphotransferase deficiency inclusion cell disease mucolipidosis 2 mucolipidosis 2 alpha/beta mucolipidosis II alpha/beta mucolipidosis type II MONDO:0009652 Mucolipidosis III gamma (ML 3 gamma) is a very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis II and mucolipidosis III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency. https://github.com/monarch-initiative/mondo/issues/4948 ML 3 gamma ML III gamma mucolipidosis type 3 gamma ML 3C mucolipidosis 3 gamma mucolipidosis 3C mucolipidosis III gamma mucolipidosis III, Iranian variant form mucolipidosis III, complementation group C mucolipidosis III, variant form mucolipidosis type III gamma MONDO:0009653 A lysosomal storage disease characterised clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus. ML IV MLIV mucolipidosis type 4 mucolipidosis type IV Berman syndrome ML 4 ML4 ganglioside neuraminidase deficiency ganglioside sialidase deficiency mucolipidosis 4 mucolipidosis IV sialolipidosis mucolipidosis type IV MONDO:0009655 A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5075 MPS III A MPS3A MPSIIIA Sanfilippo A Sanfilippo syndrome a Sanfilippo syndrome type A heparan sulfamidase deficiency mucopolysaccharidosis type 3A mucopolysaccharidosis type IIIA mucopolysaccharidosis type IIIA (Sanfilippo A) MPS 3A MPS IIIA heparan sulfate sulfatase deficiency heparane sulfamidase deficiency mucopoly-saccharidosis type 3A mucopolysaccharidosis, type 3A mucopolysaccharidosis, type IIIA sulfamidase deficiency mucopolysaccharidosis type 3A MONDO:0009656 A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5075 MPS III B MPS3B MPSIIIB N-acetyl-alpha-glucosaminidase deficiency Sanfilippo B Sanfilippo syndrome B Sanfilippo syndrome type B mucopolysaccharidosis type 3B mucopolysaccharidosis type IIIB mucopolysaccharidosis type IIIB (Sanfilippo B) MPS 3B MPS IIIB Mucopoly-saccharidosis type 3B N-Acetyl-Alpha-D-glucosaminidase deficiency NAGLU deficiency mucopolysaccharidosis, type 3B mucopolysaccharidosis, type IIIB mucopolysaccharidosis type 3B MONDO:0009657 A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme acetyl-CoA:alpha-glucosaminide acetyltransferase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5075 HGSNAT deficiency MPS III C MPS3C MPSIIIC Sanfilippo C Sanfilippo syndrome type C heparan-alpha-glucosaminide N-acetyltransferase deficiency mucopolysaccharidosis type 3C mucopolysaccharidosis type IIIC mucopolysaccharidosis type IIIC (Sanfilippo C) Acetyl-CoA alpha-glucosaminide n-acetyltransferase deficiency MPS 3C MPS IIIC Mucopoly-saccharidosis type 3C Sanfilippo syndrome C acetyl-CoA:alpha-glucosaminide N-acetyltransferase deficiency mucopolysaccharidosis, type 3C mucopolysaccharidosis, type IIIC mucopolysaccharidosis type 3C MONDO:0009658 A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylglucosamine-6-sulfatase. It is characterized by behavioral changes, sleep disturbances and mental developmental delays. https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5075 GNS deficiency MPS III D MPS3D MPSIIID Sanfilippo D Sanfilippo syndrome D Sanfilippo syndrome type D glucosamine N-acetyl-6-sulfatase deficiency mucopolysaccharidosis type 3D mucopolysaccharidosis type IIID MPS 3D MPS IIID Mucopoly-saccharidosis type 3D N-acetylglucosamine-6-sulfatase deficiency N-acetylglucosamine-6-sulfate sulfatase deficiency mucopolysaccharidosis, type 3D mucopolysaccharidosis, type IIID mucopolysaccharidosis type 3D MONDO:0009659 A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 Morquio A disease GALNS deficiency MPS IV A MPS4A MPSIVA Morquio disease type A Morquio syndrome A N-acetylgalactosamine-6-sulfate sulfatase deficiency galactosamine-6-sulfatase deficiency mucopolysaccharidosis IVA mucopolysaccharidosis type 4A mucopolysaccharidosis type IVA MPS 4A MPS IVA mucopolysaccharidosis, type 4A mucopolysaccharidosis, type IVA mucopolysaccharidosis type 4A MONDO:0009660 A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 Beta-D-galactosidase deficiency MPS 4B MPS IV B MPS4B MPSIVB Morquio disease type B Morquio syndrome B mucopolysaccharidosis type IVB mucopolysaccharidosis type IVB (Morquio) MPS IVB mucopolysaccharidosis, type 4B mucopolysaccharidosis, type IVB mucopolysaccharidosis type 4B MONDO:0009661 Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 ARSB deficiency ASB deficiency MPS VI - Maroteaux-Lamy syndrome MPS6 MPSVI Maroteaux - Lamy syndrome Maroteaux-Lamy disease Maroteaux-Lamy syndrome N-acetylgalactosamine 4-sulfatase deficiency arylsulfatase B deficiency deficiency of N-acetylgalactosamine-4-sulfatase mucopolysaccharidosis type VI mucopolysaccharidosis type VI (Maroteaux-Lamy) Arsb deficiency MPS 6 MPS VI Maroteaux Lamy syndrome Mucopoly-saccharidosis type VI N-acetylgalactosamine-4-sulfatase deficiency mucopolysaccharidosis VI mucopolysaccharidosis type 6 MONDO:0009662 Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. https://github.com/monarch-initiative/mondo/issues/4948 Beta-glucuronidase deficiency MPS VII - Sly syndrome MPS7 MPSVII Sly disease Sly syndrome beta-glucuronidase deficiency deficiency of beta-glucuronidase mucopolysaccharidosis VII mucopolysaccharidosis type 7 mucopolysaccharidosis type VII mucopolysaccharidosis, mps-VII Gus deficiency Gusb deficiency MPS 7 MPS VII MPS VII - mucopolysaccharidosis VII gusb deficiency mucopolysaccharidosis, type 7 mucopolysaccharidosis, type VII mucopolysaccharidosis type 7 MONDO:0009663 mucus inspissation of respiratory tract mucus inspissation of respiratory tract MONDO:0009664 A prenatal onset growth disorder with multiorgan manifestations. https://github.com/monarch-initiative/mondo/issues/2632 MUL Perheentupa syndrome mulibrey dwarfism mulibrey nanism muscle-liver-brain-eye nanism pericardial constriction and growth failure pericardial constriction-growth failure syndrome pericardial constriction and Growth failure mulibrey nanism https://rarediseases.info.nih.gov/diseases/95/mulibrey-nanism MONDO:0009665 Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development. BTD deficiency biotinidase deficiency deficiency of biotinidase juvenile-onset multiple carboxylase deficiency late-onset multiple carboxylase deficiency biotin deficiency late-onset biotin-responsive multiple carboxylase deficiency multiple carboxylase deficiency, juvenile-onset multiple carboxylase deficiency, late-onset biotinidase deficiency MONDO:0009666 A life-threatening early-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma. multiple carboxylase deficiency biotin-(propionyl-CoA-carboxylase) ligase deficiency early-onset multiple carboxylase deficiency holocarboxylase synthase deficiency holocarboxylase synthetase deficiency multiple carboxylase deficiency - neonatal onset neonatal multiple carboxylase deficiency HLCS deficiency multiple carboxylase deficiency, early onset multiple carboxylase deficiency, neonatal form May occur as a secondary consequence of impaired biotinidase activity doi:10.1074/jbc.M806985200 holocarboxylase synthetase deficiency https://rarediseases.info.nih.gov/diseases/2721/holocarboxylase-synthetase-deficiency MONDO:0009667 An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life. muscle-eye-brain-POMGNT1 related muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 3 MDDGA3 Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 MONDO:0009668 Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia)of the neck, elbows, back of the knees, armpits, and fingers. Fetuses with this condition are usually not born. Some of the prenatal complications include cystic hygroma, hydrops, diaphragmatic hernia, polyhydramnios, underdevelopment of the heart and lungs, microcephaly, bone fusions, joint dislocations, spinal fusion, andbone fractures. Both X-linked and autosomal recessive inheritance have been proposed. Mutations in the CHRNG, CHRNA1, and CHRND genes have been found to cause this condition. LMPS autosomal recessive lethal multiple pterygium syndrome lethal multiple pterygium syndrome multiple pterygium syndrome lethal type multiple pterygium syndrome, lethal type pterygium syndrome multiple lethal type pterygium syndrome, multiple, lethal type lethal multiple pterygium syndrome https://rarediseases.info.nih.gov/diseases/3834/multiple-pterygium-syndrome-lethal-type MONDO:0009669 A severe infantile form of proximal spinal muscular atrophy characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. https://github.com/monarch-initiative/mondo/issues/4521 infantile muscular atrophy infantile spinal muscular atrophy spinal muscular atrophies of childhood HMN (hereditary motor neuropathy) proximal type I SMA type 1 SMA type I SMA-I SMA1 Werdnig Hoffmann disease Werdnig-Hoffman disease Werdnig-Hoffmann disease hereditary motor neuropathy proximal type I progressive muscular atrophy of infancy severe infantile spinal muscular atrophy spinal muscular atrophy-1 survival motor neuron spinal muscular atrophy SMA, infantile acute form muscular atrophy, infantile proximal spinal muscular atrophy type 1 proximal spinal muscular atrophy, type 1 spinal muscular atrophy 1 spinal muscular atrophy, type I spinal muscular atrophy, type 1 MONDO:0009670 Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies. GLE1 lethal congenital contracture syndrome Herva disease LCCS1 lethal congenital contracture syndrome 1 lethal congenital contracture syndrome caused by mutation in GLE1 lethal congenital contracture syndrome type 1 multiple contracture syndrome, Finnish type Lccs lethal autosomal recessive syndrome of multiple congenital contractures lethal congenital contracture syndrome 1 MONDO:0009671 Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985. https://github.com/monarch-initiative/mondo/issues/5588 Chudley-Rozdilsky syndrome Chudley Rozdilsky syndrome Chudley syndrome multicore myopathy with intellectual disability, short stature, and hypogonadotropic hypogonadism multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism intellectual disability-myopathy-short stature-endocrine defect syndrome MONDO:0009672 Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. https://github.com/monarch-initiative/mondo/issues/4521 childhood spinal muscular atrophy juvenile spinal muscular atrophy Kugelberg-Welander disease SMA type 3 SMA type III SMA-III SMA3 pediatric spinal muscular atrophy spinal muscular atrophy III spinal muscular atrophy of childhood spinal muscular atrophy type 3 spinal muscular atrophy, familial spinal muscular atrophy, type III spinal muscular atrophy, type III, modifier of spinal muscular atrophy-3 type III spinal muscular atrophy KWS Kugelberg-Welander syndrome SMA 3 Sma 3 muscular atrophy, juvenile proximal spinal muscular atrophy type 3 spinal muscular atrophy, mild childhood and adolescent form spinal muscular atrophy, type 3 spinal muscular atrophy, type III MONDO:0009673 Proximal spinal muscular atrophy type 2 (SMA2) is a chronic infantile form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. https://github.com/monarch-initiative/mondo/issues/4521 Intermediate spinal muscular atrophy SMA type 2 SMA type II SMA-II SMA2 chronic infantile spinal muscular atrophy chronic spinal muscular atrophy muscular atrophy, spinal, infantile chronic form muscular atrophy, spinal, intermediate type spinal muscular atrophy, type II spinal muscular atrophy-2 Dubowitz disease SMA II Sma 2 muscular atrophy, spinal, Intermediate type proximal spinal muscular atrophy type 2 spinal muscular atrophy type 2 spinal muscular atrophy type II spinal muscular atrophy, type 2 spinal muscular atrophy, type II MONDO:0009674 muscular dystrophy, adult-onset, with leukoencephalopathy muscular dystrophy, adult-onset, with leukoencephalopathy MONDO:0009675 Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy. https://github.com/monarch-initiative/mondo/issues/4521 CAPN3 autosomal recessive limb-girdle muscular dystrophy LGMD2A Leyden-Moebius muscular dystrophy autosomal recessive limb-girdle muscular dystrophy caused by mutation in CAPN3 autosomal recessive limb-girdle muscular dystrophy type 2A calpainopathy limb-girdle muscular dystrophy due to calpain deficiency limb-girdle muscular dystrophy type 2A muscular dystrophy, limb-girdle, autosomal recessive 1 muscular dystrophy, limb-girdle, type 2A pelvofemoral muscular dystrophy primary calpainopathy LGMD2 limb-girdle muscular dystrophy type 2 muscular dystrophy limb girdle type 2A, erb type muscular dystrophy, Pelvofemoral muscular dystrophy, limb-girdle, type 2 myositis, eosinophilic autosomal recessive limb-girdle muscular dystrophy type 2A MONDO:0009676 Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed. https://github.com/monarch-initiative/mondo/issues/4521 DYSF autosomal recessive limb-girdle muscular dystrophy LGMD2B LGMD3 autosomal recessive limb-girdle muscular dystrophy caused by mutation in DYSF limb-girdle muscular dystrophy due to dysferlin deficiency limb-girdle muscular dystrophy type 2B limb-girdle muscular dystrophy type 3 muscular dystrophy, limb-girdle, autosomal recessive 2 limb-girdle muscular dystrophy, type 2B muscular dystrophy, limb-girdle, type 2B muscular dystrophy, limb-girdle, type 3 autosomal recessive limb-girdle muscular dystrophy type 2B MONDO:0009677 Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported. https://github.com/monarch-initiative/mondo/issues/4521 DMDA1 LGMD2C Maghrebian myopathy SCARMD SGCG autosomal recessive limb-girdle muscular dystrophy autosomal recessive Duchenne-like muscular dystrophy type 1 autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCG autosomal recessive limb-girdle muscular dystrophy type 2C deficiency of sarcoglycan gamma gamma-sarcoglycanopathy limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency muscular dystrophy, limb-girdle, autosomal recessive 5 muscular dystrophy, limb-girdle, type 2C severe childhood autosomal recessive muscular dystrophy North African type Adhalin deficiency, secondary Dmda Duchenne-like muscular dystrophy, autosomal recessive, type 1 limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency limb-girdle muscular dystrophy, type 2C muscular dystrophy, Duchenne-like sarcoglycan, gamma, deficiency of severe childhood autosomal recessive muscular dystrophy, North African type autosomal recessive limb-girdle muscular dystrophy type 2C MONDO:0009678 Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment. https://github.com/monarch-initiative/mondo/issues/4069 FCMD Fukuyama congenital muscular dystrophy MDDGA4 Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related muscle-eye-brain-FKTN related muscular dystrophy-dystroglycanopathy (congenital with Brain and eye anomalies) type A, 4 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 congenital muscular dystrophy, Fukuyama type muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 MONDO:0009679 congenital muscular dystrophy producing arthrogryposis muscular dystrophy, congenital, producing arthrogryposis arthrogryposis due to muscular dystrophy https://rarediseases.info.nih.gov/diseases/779/arthrogryposis-due-to-muscular-dystrophy MONDO:0009680 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive. https://github.com/monarch-initiative/mondo/issues/4069 Bassoe syndrome benign muscular dystrophy with hypergonadotrophic hypogonadism and congenital cataract familial congenital muscular dystrophy with gonadal dysgenesis muscular dystrophy, congenital, infantile with cataract and hypogonadism muscular dystrophy, congenital, with infantile cataract and hypogonadism congenital muscular dystrophy-infantile cataract-hypogonadism syndrome MONDO:0009681 Ullrich congenital muscular dystrophy 1 Ullrich congenital muscular dystrophy type 1 UCMD1 Ullrich Scleroatonic muscular dystrophy Ullrich congenital muscular dystrophy Ullrich disease muscular dystrophy, Scleroatonic Ullrich congenital muscular dystrophy 1 MONDO:0009682 https://github.com/monarch-initiative/mondo/issues/4069 muscular dystrophy, congenital, with rapid progression muscular dystrophy, congenital, with rapid progression MONDO:0009683 Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement. https://github.com/monarch-initiative/mondo/issues/4521 LGMD2H Sarcotubular myopathy TRIM32 autosomal recessive limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRIM32 autosomal recessive limb-girdle muscular dystrophy type 2H limb-girdle muscular dystrophy due to TRIM32 deficiency muscular dystrophy Hutterite type muscular dystrophy, limb-girdle, autosomal recessive 8 sarcotubular myopathy limb-girdle muscular dystrophy type 2H muscular dystrophy limb-girdle type 2H muscular dystrophy, Hutterite type muscular dystrophy, limb-girdle, type 2H autosomal recessive limb-girdle muscular dystrophy type 2H MONDO:0009684 muscular hypertonia, lethal muscular hypertonia, lethal MONDO:0009685 A distal myopathy, characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes. MM Miyoshi distal myopathy Miyoshi muscular dystrophy MMD1 Miyoshi muscular dystrophy 1 Miyoshi muscular dystrophy type 1 muscular dystrophy, distal, late onset, autosomal recessive Miyoshi myopathy MONDO:0009686 musk, inability to smell musk, inability to smell MONDO:0009687 https://github.com/monarch-initiative/mondo/issues/4069 myasthenia, congenital, refractory to acetylcholinesterase inhibitors myasthenia, congenital, refractory to acetylcholinesterase inhibitors MONDO:0009688 Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles. acquired myasthenia autoimmune myasthenia gravis myasthenia gravis MG myasthenia gravis https://rarediseases.info.nih.gov/diseases/7122/myasthenia-gravis MONDO:0009689 Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inherited in an autosomal recessive manner. https://github.com/monarch-initiative/mondo/issues/4069 CHAT congenital myasthenic syndrome CMS Ia2 CMS1A2 CMS6 CMSEA FIM FIMG2 congenital myasthenic syndrome 6 congenital myasthenic syndrome 6, presynaptic congenital myasthenic syndrome caused by mutation in CHAT congenital myasthenic syndrome type 6 congenital myasthenic syndrome type Ia2 congenital presynaptic myasthenic syndrome associated with episodic apnea familial infantile myasthenia familial infantile myasthenia gravis 2 presynaptic congenital myasthenic syndrome 6 CMS Ia2, formerly CMS w/episodic apnea CMS-ea CMS1A CMS1A2, formerly Cms Ia2 Cms Ia2, formerly FIM, formerly FIMG2 (formerly) FIMG2, formerly congenital myasthenic syndrome type 1a congenital myasthenic syndrome type Ia congenital myasthenic syndrome type Ia2, formerly congenital myasthenic syndrome with episodic apnea myasthenia familial infantile myasthenia gravis familial infantile 2 (formerly) myasthenia gravis, familial infantile, 2 myasthenia gravis, familial infantile, 2, formerly myasthenia, familial infantile myasthenia, familial infantile, formerly myasthenic syndrome congenital associated with episodic apnea myasthenic syndrome, congenital, 6, presynaptic myasthenic syndrome, congenital, associated with episodic apnea myasthenic syndrome, presynaptic, congenital, associated with episodic apnea congenital myasthenic syndrome 6 https://rarediseases.info.nih.gov/diseases/9689/congenital-myasthenic-syndrome-with-episodic-apnea MONDO:0009690 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the DOK7 gene. https://github.com/monarch-initiative/mondo/issues/4069 CMS10 DOK7 congenital myasthenic syndrome LGM congenital myasthenic syndrome 10 congenital myasthenic syndrome caused by mutation in DOK7 congenital myasthenic syndrome type 10 familial limb-girdle myasthenia myasthenic syndrome, congenital, type 10 CMS Ib CMS1B Cms Ib Cms Ib, formerly congenital myasthenic syndrome type IB congenital myasthenic syndrome type IB, formerly myasthenia, limb-girdle, familial myasthenia, limb-girdle, familial, formerly myasthenic myopathy myasthenic myopathy, formerly myasthenic syndrome, congenital, 10 congenital myasthenic syndrome 10 MONDO:0009691 Classical mycosis fungoides is the most common type of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by slow progression from patches to more infiltrated plaques and eventually to tumors. CTCL/ mycosis fungoides MF cutaneous T-cell lymphoma/mycosis fungoides mycosis fungoides mycosis fungoides (morphologic abnormality) mycosis fungoides NOS (morphologic abnormality) mycosis fungoides lymphoma mycosis fungoides of unspecified site mycosis fungoides, Alibert-Bazin type mycosis fungoides, unspecified site, extranodal and solid organ sites Alibert-Bazin syndrome classic mycosis fungoides granuloma fungoides mycosis fungoides https://rarediseases.info.nih.gov/diseases/3863/mycosis-fungoides MONDO:0009692 Myelofibrosis with myeloid metaplasia is a myeloproliferative disease with annual incidence of approximately 1 case per 100,000 individuals and age at diagnosis around 60 (an increased prevalence is noted in Ashkenazi Jews). Clinical manifestations depend on the type of blood cell affected and may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension. https://github.com/monarch-initiative/mondo/issues/4521 AMM Agnogenic myeloid metaplasia CIMF aleukemic myelosis bone marrow fibrosis chronic idiopathic myelofibrosis idiopathic bone marrow fibrosis idiopathic myelofibrosis megakaryocytic myelosclerosis myelofibrosis with myeloid metaplasia, somatic myelofibrosis, somatic myelosclerosis myelosclerosis with myeloid metaplasia osteomyelofibrosis primary myelofibrosis myelofibrosis with myeloid metaplasia myelofibrosis myeloid metaplasia primary myelofibrosis MONDO:0009693 A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001) https://github.com/monarch-initiative/mondo/issues/1506 https://github.com/monarch-initiative/mondo/issues/4521 Kahler disease Kahler's disease medullary plasmacytoma multiple myeloma multiple myeloma, resistance to, Somatic mutation multiple myeloma, susceptibility to, Somatic mutation multiple myeloma/plasma cell myeloma myeloid neoplasm of plasma cell myeloma myeloma, multiple myeloma, plasma cell, malignant myelomatosis plasma cell myeloid neoplasm plasma cell myeloma Al amyloidosis amyloidosis, systemic myeloma - multiple plasma cell myeloma MONDO:0009694 MPO deficiency myeloperoxidase deficiency MPOD myeloperoxidase deficiency https://rarediseases.info.nih.gov/diseases/3868/myeloperoxidase-deficiency MONDO:0009695 myeloproliferative disease, autosomal recessive myeloproliferative disease, autosomal recessive MONDO:0009696 Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases). EJM JME epilepsy, myoclonic juvenile juvenile myoclonus epilepsy myoclonic epilepsy, juvenile myoclonic epilepsy, juvenile, 1 Janz syndrome myoclonic epilepsy, juvenile, susceptibility to, 1 petit mal, impulsive juvenile myoclonic epilepsy https://rarediseases.info.nih.gov/diseases/6808/juvenile-myoclonic-epilepsy MONDO:0009697 Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4985 EPM2 Lafora disease Lafora progressive myoclonic epilepsy Lafora's disease PME type 2 epilepsy, progressive myoclonic 2A (Lafora) epilepsy, progressive myoclonic 2B (Lafora) myoclonic epilepsy of Lafora progressive myoclonic epilepsy type 2 progressive myoclonus epilepsy type 2 Epm2 Lafora body disease Lafora body disorder Melf epilepsy progressive myoclonic 2 epilepsy, progressive myoclonic, 2A epilepsy, progressive myoclonic, 2B Lafora disease https://rarediseases.info.nih.gov/diseases/8214/lafora-disease MONDO:0009698 Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time. https://github.com/monarch-initiative/mondo/issues/4521 PME type 1 ULD Unverricht - Lundborg disease Unverricht's disease Unverricht-Lundborg disease Unverricht-Lundborg syndrome epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) progressive myoclonic epilepsy type 1 progressive myoclonus epilepsy type 1 Baltic myoclonic epilepsy EPM1 Uld epilepsy, progressive myoclonic type 1 epilepsy, progressive myoclonic, 1 epilepsy, progressive myoclonic, 1A epilepsy, progressive myoclonus 1 myoclonic epilepsy of Unverricht and Lundborg myoclonus progressive epilepsy of Unverricht and Lundborg progressive myoclonic epilepsy progressive myoclonus epilepsy Baltic myoclonic epilepsy Unverricht-Lundborg syndrome MONDO:0009699 Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms. https://github.com/monarch-initiative/mondo/issues/4521 AMRF EPM4 action myoclonus-renal failure syndrome epilepsy, progressive myoclonic 4, with or without renal failure myoclonus-nephropathy syndrome progressive myoclonic epilepsy type 4 epilepsy, progressive myoclonic, 4, with or without renal failure action myoclonus-renal failure syndrome MONDO:0009701 myopathy, granulovacuolar lobular, with electrical myotonia myopathy, granulovacuolar lobular, with electrical myotonia MONDO:0009702 myopathy due to malate-aspartate shuttle defect myopathy due to malate-aspartate shuttle defect MONDO:0009703 myopathy with abnormal lipid metabolism LIPID storage myopathy due to flavin adenine dinucleotide synthetase deficiency LSMFLAD lipid storage myopathy lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency myopathy with abnormal lipid metabolism MONDO:0009704 The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency. https://github.com/monarch-initiative/mondo/issues/4521 CPT II deficiency, myopathic, stress-induced CPT2, adult-onset form CPT2, myopathic form CPTII, adult-onset form CPTII, myopathic form Carnitine palmitoyl transferase II deficiency, adult-onset form Carnitine palmitoyl transferase deficiency type 2, adult-onset form Carnitine palmitoyl transferase deficiency type 2, myopathic form carnitine palmitoyl transferase II deficiency, myopathic form CARNITINE PALMITOYLTRANSFERASE II deficiency, late-onset CARNITINE PALMITOYLTRANSFERASE II deficiency, myopathic, stress-induced CPT 2 deficiency, myopathic Carnitine Palmitoyltransferase 2 deficiency, adult-onset Carnitine Palmitoyltransferase 2 deficiency, myopathic Carnitine Palmitoyltransferase 2 deficiency, myopathic, stress-induced Cpt2 deficiency, late-onset carnitine palmitoyl transferase II deficiency, myopathic form MONDO:0009705 Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure. https://github.com/monarch-initiative/mondo/issues/4521 CPT I deficiency CPT1A deficiency CPT1A disorder of carnitine cycle and carnitine transport Carnitine palmitoyl transferase IA deficiency L-CPT1 deficiency L-CPTI deficiency carnitine palmitoyl transferase 1A deficiency carnitine palmitoyl transferase IA deficiency carnitine palmitoyltransferase I deficiency cpt deficiency, hepatic, type IA disorder of carnitine cycle and carnitine transport caused by mutation in CPT1A hepatic CPT deficiency type I hepatic carnitine palmitoyl transferase 1 deficiency hepatic carnitine palmitoyl transferase I deficiency CPT 1 deficiency CPT deficiency, hepatic, type 1 Carnitine Palmitoyltransferase 1 deficiency Carnitine Palmitoyltransferase 1A deficiency Carnitine palmitoyl transferase 1 deficiency Carnitine palmitoyltransferase 1A deficiency L-CPT 1 deficiency hepatic CPT1 hepatic carnitine palmitoyltransferase 1 deficiency Editor note: consider adding sibling for CPT-1B carnitine palmitoyl transferase 1A deficiency https://rarediseases.info.nih.gov/diseases/1120/carnitine-palmitoyl-transferase-1-deficiency MONDO:0009706 Aconitase deficiency is characterised by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase. ISCU myopathy aconitase deficiency iron-sulfur cluster deficiency myopathy myopathy with exercise intolerance, Swedish type HML myoglobinuria due to abnormal glycolysis myopathy with deficiency of succinate dehydrogenase and aconitase myopathy with lactic acidosis, hereditary hereditary myopathy with lactic acidosis due to ISCU deficiency MONDO:0009707 myopathy with giant abnormal mitochondria myopathy with giant abnormal mitochondria MONDO:0009708 myopathy, myosin storage, autosomal recessive MSMB myopathy, hyaline body, autosomal recessive myopathy, myosin storage, autosomal recessive MONDO:0009709 Any centronuclear myopathy in which the cause of the disease is a mutation in the BIN1 gene. https://github.com/monarch-initiative/mondo/issues/4521 BIN1 centronuclear myopathy centronuclear myopathy 2 centronuclear myopathy caused by mutation in BIN1 myopathy, centronuclear, 2 myopathy, centronuclear, type 2 CNM2 myopathy, centronuclear, autosomal recessive myotubular myopathy, autosomal recessive myopathy, centronuclear, 2 MONDO:0009710 A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia). myotonia congenita Batten-Turner congenital myopathy myopathy, congenital Thomsen and Becker disease MONDO:0009711 A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 or SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern and rarely in an X-linked pattern. It manifests with myopathy throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Affected individuals may have contractures, lordosis, or scoliosis. In a minority of cases mild to severe breathing problems may occur. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 CFTDM congenital fiber-type disproportion congenital myopathy with fiber type disproportion congenital myopathy with fibre type disproportion myopathy, congenital, with fiber-type disproportion 1 CFTD congenital fiber type disproportion fiber-type disproportion myopathy, congenital myopathy, congenital with fiber-type disproportion myopathy, congenital, with fiber-type disproportion congenital fiber-type disproportion myopathy MONDO:0009712 An autosomal recessive condition caused by mutation(s) in the RYR1 gene, encoding ryanodine receptor 1. It may be characterized clinically by neonatal hypotonia, delayed motor development, and generalized muscle weakness, and amyotrophy. Pathologically, the absence of mitochondria and focal disorganization of the sarcomere appear as "minicores" on ATPase staining as a result of focal defects in oxidative activity. https://github.com/monarch-initiative/mondo/issues/4069 minicore myopathy, antenatal onset, with arthrogryposis minicore myopathy minicore myopathy with external ophthalmoplegia multicore myopathy multicore myopathy with external ophthalmoplegia multiminicore disease with external ophthalmoplegia multiminicore myopathy multicore myopathy with external ophthalmoplegia congenital multicore myopathy with external ophthalmoplegia MONDO:0009713 MYP18 myopia 18, autosomal recessive myopia 18, autosomal recessive MONDO:0009714 Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries. https://github.com/monarch-initiative/mondo/issues/4521 congenital myosclerosis, LC6wenthal type congenital myosclerosis, Löwenthal type myosclerosis, congenital myopathy, myosclerotic myosclerosis, autosomal recessive myosclerosis, congenital, of Lowenthal myosclerosis MONDO:0009715 Autosomal recessive form of myotonia congenita. https://github.com/monarch-initiative/mondo/issues/4521 autosomal recessive myotonia congenita myotonia congenita, autosomal recessive myotonia congenita, recessive Becker disease myotonia, generalized myotonia congenita, autosomal recessive MONDO:0009716 myotonia-intellectual disability-skeletal anomalies syndrome Richieri Costa Da Silva syndrome myotonia with skeletal abnormalities and intellectual disability myotonia with skeletal abnormalities and mental retardation Richieri Costa-da Silva syndrome https://rarediseases.info.nih.gov/diseases/4709/richieri-costa-da-silva-syndrome MONDO:0009717 A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia). Aberfeld syndrome Catel-Hempel syndrome Catel-Hempel type dysostosis enchondralis metaepiphysaria Osteochondromuscular dystrophy SJS Schwartz-Jampel syndrome Schwartz-Jampel-Aberfeld syndrome burton skeletal dysplasia burton syndrome dysostosis enchondralis metaepiphysaria, Catel-Hempel type myotonic chondrodystrophy myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies osteochondromuscular dystrophy Schwartz Jampel Aberfeld syndrome Schwartz Jampel syndrome myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities myotonic myopathy, dwarfism, chondrodystrophy, and ocular and Facial abnormalities Schwartz-Jampel syndrome MONDO:0009718 A condition characterized by severe hypothyroidism that is caused by autoimmune thyroid gland disorders, surgical reduction of thyroid tissue, radiation exposure, and viral infections. Signs and symptoms include generalized fatigue, lethargy, increased body weight, pale, edematous and thickened skin, low blood pressure, constipation and cold intolerance. myxedema Editor note: myxedema can also refer to a dermatological change that can occur in hypothyroidism and some forms of hyperthyroidism. myxedema MONDO:0009719 MYXOMA, intracardiac atrial Myxoma, familial intracardiac myxoma familial atrial myxoma https://rarediseases.info.nih.gov/diseases/139/atrial-myxoma-familial MONDO:0009720 A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis. https://github.com/monarch-initiative/mondo/issues/4521 KPTS Keipert syndrome Keipert syndrome, X-linked recessive nasodigitoacoustic syndrome nasodigitoacoustic syndrome, formerly Keipert syndrome MONDO:0009721 Nathalie syndrome is characterised by deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics, and electrocardiographic abnormalities. It has been described in a Dutch family: in three sisters (one named Nathalie) and their brother. Nathalie syndrome deafness-cataract-skeletal anomalies syndrome deafness-cataracts-skeletal anomalies syndrome sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics Nathalie syndrome https://rarediseases.info.nih.gov/diseases/3929/nathalie-syndrome MONDO:0009722 Bailey-Bloch congenital myopathy is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia. https://github.com/monarch-initiative/mondo/issues/1377 https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 Bailey-Bloch congenital myopathy Native American myopathy STAC3 disorder congenital myopathy-cleft palate-malignant hyperthermia syndrome myopathy, congenital, baily-bloch NAM congenital myopathy - cleft palate - malignant hyperthermia congenital myopathy cleft palate and malignant hyperthermia myopathy, congenital, with cleft palate and malignant hyperthermia Bailey-Bloch congenital myopathy MONDO:0009723 A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions. LS Leigh disease Leigh syndrome Leigh's disease infantile necrotizing encephalomyelopathy infantile subacute necrotizing encephalopathy juvenile subacute necrotizing encephalomyelopathy Leigh syndrome due to mitochondrial Complex 1 deficiency Leigh syndrome due to mitochondrial Complex 2 deficiency Leigh syndrome due to mitochondrial Complex 3 deficiency Leigh syndrome due to mitochondrial Complex 4 deficiency Leigh syndrome due to mitochondrial Complex 5 deficiency Leigh's necrotizing encephalopathy SNE necrotizing encephalopathy, infantile Subacute, of Leigh subacute necrotizing encephalomyelopathy subacute necrotizing encephalopathy Leigh syndrome MONDO:0009724 A severe nephropathy characterised by renal dysfunction, proteinuria, oedema and microscopic haematuria. It has been described in three brothers, two of which died from end-stage renal insufficiency. https://github.com/monarch-initiative/mondo/issues/4521 Salcedo syndrome focal segmental glomerulosclerosis 10 nail-patella-like renal disease glomerular basement Membrane disease, nail-patella syndrome type nail patella like renal disease nail-patella-like renal disease MONDO:0009725 An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness. NEB nemaline myopathy NEM2 nemaline myopathy 2 nemaline myopathy 2, autosomal recessive nemaline myopathy caused by mutation in NEB nemaline myopathy type 2 nemaline myopathy 2 MONDO:0009726 ALDD ALDD syndrome CANDLE syndrome JMP syndrome Joint contractures - muscle atrophy - microcytic anemia - panniculitis-induced lipodystrophy Joint contractures, muscular atrophy, microcytic Anemia, and panniculitis-induced lipodystrophy Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome NNS Nakajo Nishimura syndrome Nakajo syndrome Nakajo-Nishimura syndrome PRAAS autoinflammation, lipodystrophy, and dermatosis syndrome autoinflammation-lipodystrophy-dermatosis syndrome chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy proteasome disability syndrome proteasome-associated autoinflammatory syndrome secondary hypertrophic osteoperiostosis with pernio amyotrophy fat tissue anomaly amyotrophy-fat tissue anomaly syndrome nodular erythema digital changes proteosome-associated autoinflammatory syndrome https://rarediseases.info.nih.gov/diseases/10811/chronic-atypical-neutrophilic-dermatosis-with-lipodystrophy-and-elevated-temperature https://rarediseases.info.nih.gov/diseases/10988/jmp-syndrome MONDO:0009727 A lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene. https://github.com/monarch-initiative/mondo/issues/4948 AO2 AOII atelosteogenesis type 2 atelosteogenesis type II neonatal osseous dysplasia type 1 De 50A Chapelle dysplasia De la Chapelle dysplasia atelosteogenesis II atelosteogenesis, type 2 atelosteogenesis, type II neonatal osseous dysplasia 1 atelosteogenesis type II MONDO:0009728 Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure. https://github.com/monarch-initiative/mondo/issues/4521 NPH1 NPHP1 NPHP1 nephronophthisis (disease) familial juvenile nephronophthisis juvenile nephronophthisis juvenile nephronophthisis 1 nephronophthisis (disease) caused by mutation in NPHP1 nephronophthisis 1 nephronophthisis 1, juvenile nephronophthisis type 1 Nph1 nephronophthisis, familial juvenile nephronophthisis 1 MONDO:0009729 Nephropathy-deafness-hyperparathyroidism syndrome is characterised by renal failure without haematuria, parathyroid hyperplasia and sensorineural deafness. It has been described in five children born to consanguineous patents. The mode of inheritance appears to be autosomal recessive. Edwards-Patton-Dilly syndrome Edwards Patton Dilly syndrome nephropathy - deafness - hyperparathyroidism nephropathy, deafness, and hyperparathyroidism nephropathy - deafness - hyperparathyroidism syndrome https://rarediseases.info.nih.gov/diseases/3940/nephropathy-deafness-and-hyperparathyroidism MONDO:0009731 Nephrosis-deafness-urinary tract-digital malformations syndrome is characterised by anomalies of the urinary tract, thumbs and big toes, deafness and nephrosis. It has been described in five brothers. The mode of transmission has not been clearly established but seems to be either autosomal recessive or X-linked dominant. Braun-Bayer syndrome nephrosis deafness urinary tract digital malformation nephrosis with deafness and urinary tract and digital malformations nephrosis-deafness-urinary tract-digital malformations syndrome MONDO:0009732 Congenital nephrotic syndrome, Finnish type is characterised by protein loss beginning during foetal life. Finnish congenital nephrosis congenital nephrotic syndrome - Finnish type congenital nephrotic syndrome, Finnish type nephrotic syndrome - NPHS1 associated CnF NPHS1 congenital nephrotic syndrome 1 congenital nephrotic syndrome Finnish type nephrosis 1, congenital, Finnish type nephrosis, congenital nephrotic syndrome, congenital nephrotic syndrome, type 1 congenital nephrotic syndrome, Finnish type https://rarediseases.info.nih.gov/diseases/1500/congenital-nephrotic-syndrome-finnish-type MONDO:0009733 Nephrotic syndrome within the first three motnhs of life, characterized initially by increased mesangial matrix, with or without hypertrophy and hyperplasia of podocytes, and eventual glomerular sclerosis. WT1 nephrotic syndrome congenital nephrotic syndrome - diffuse mesangial sclerosis nephrotic syndrome caused by mutation in WT1 nephrotic syndrome, type 4 DMS NPHS4 diffuse isolated mesangial sclerosis diffuse mesangial sclerosis familial mesangial sclerosis isolated diffuse mesangial sclerosis mesangial sclerosis, diffuse nephrotic syndrome, early onset with diffuse mesangial sclerosis nephrotic syndrome, type 4 MONDO:0009734 Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the ABCC8 gene. ABCC8 hyperinsulinemic hypoglycemia (disease) hyperinsulinemic hypoglycemia (disease) caused by mutation in ABCC8 hyperinsulinemic hypoglycemia due to SUR1 deficiency hyperinsulinemic hypoglycemia, familial, 1 hyperinsulinemic hypoglycemia, familial, type 1 HHF1 Nesidioblastosis of pancreas hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia hyperinsulinism, congenital hyperinsulinism, familial, with pancreatic Nesidioblastosis hypoglycemia, hyperinsulinemic, of infancy persistent hyperinsulinemic hypoglycemia of infancy hyperinsulinemic hypoglycemia, familial, 1 MONDO:0009735 Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations. Comèl-Netherton syndrome NS Netherton syndrome bamboo hair syndrome Comel-Netherton syndrome Netherton disease erythroderma, ichthyosiform, with hypotrichosis and hyper-IgE neth Netherton syndrome https://rarediseases.info.nih.gov/diseases/7182/netherton-syndrome MONDO:0009736 Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PHGDH gene. 3-Phosphoglycerate dehydrogenase deficiency, neonatal form 3-phosphoglycerate dehydrogenase deficiency, prenatal form Neu-Laxova syndrome 1 Neu-Laxova syndrome caused by mutation in PHGDH Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency Neu-Laxova syndrome type 1 PHGDH Neu-Laxova syndrome NLS1 Neu-Laxova syndrome Neu-Laxova syndrome 1 MONDO:0009737 A lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form. https://github.com/monarch-initiative/mondo/issues/4948 Goldberg syndrome galactosialidosis neuraminidase deficiency with beta-galactosidase deficiency GSL PPCA deficiency cathepsin A deficiency cathepsin A deficiency of lysosomal protective Protein deficiency lysosomal protective protein deficiency of neuraminidase/Beta-galactosidase expression protective Protein/Cathepsin a deficiency galactosialidosis https://rarediseases.info.nih.gov/diseases/3953/galactosialidosis MONDO:0009738 A rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations. https://github.com/monarch-initiative/monarch-disease-ontology/issues/227 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 sialidosis NEU1 sialidosis dysmorphic sialidosis dysmorphic sialidosis with renal involvement infantile dysmorphic sialidosis mucolipidosis I mucolipidosis type I nephrosialidosis sialidosis caused by mutation in NEU1 sialidosis type II sialidosis, type 2 sialidosis, type I ML 1 ML1 NEU 1 deficiency Neu deficiency Neu1 deficiency Neug deficiency cherry Red spot--myoclonus syndrome glycoprotein neuraminidase deficiency glycoproteinosis lipomucopolysaccharidosis mucolipidosis 1 mucolipidosis type 1 myoclonus--cherry Red spot syndrome neuraminidase 1 deficiency neuraminidase deficiency sialidase deficiency sialidosis, type 1 sialidosis, type II sialidosis type 2 MONDO:0009740 Neurofaciodigitorenal syndrome is a rare, multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997. https://github.com/monarch-initiative/mondo/issues/5588 Freire Maia-Pinheiro-Opitz syndrome neurofaciodigitorenal syndrome Freire-Maia Pinheiro Opitz syndrome Nfdr syndrome neurofaciodigitorenal syndrome https://rarediseases.info.nih.gov/diseases/3964/neurofaciodigitorenal-syndrome MONDO:0009741 https://github.com/monarch-initiative/mondo/issues/4521 neuroblastoma, susceptibility to susceptibility to neuroblastoma neuroblastoma, susceptibility to, 1, autosomal dominant, somatic mutation neuroblastoma, susceptibility to, 1 MONDO:0009742 Elejalde syndrome (ES) is characterized by silvery to leaden hair, bronze skin colour in sun-exposed areas and severe neurological impairment. Elejalde disease neuroectodermal melanolysosomal disease ELEJALDE disease neuroectodermal melanolysosomal disease MONDO:0009743 neurologic disease, infantile multisystem, with osseous fragility neurologic disease, infantile multisystem, with osseous fragility MONDO:0009744 A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments. https://github.com/monarch-initiative/mondo/issues/2665 CLN1 CLN1 disease CLN1 variable age at onset PPT1 neuronal ceroid lipofuscinosis ceroid lipofuscinosis neuronal 1 ceroid lipofuscinosis, neuronal, 1 ceroid lipofuscinosis, neuronal, 1, variable Age at onset ceroid lipofuscinosis, neuronal, type 1 ceroid storage disease neuronal ceroid lipofuscinosis 1 neuronal ceroid lipofuscinosis 1 variable age of onset neuronal ceroid lipofuscinosis caused by mutation in PPT1 neuronal ceroid lipofuscinosis type 1 Santavuori disease Santavuori-Haltia disease adult CLN (type of CLN1) classic late infantile CLN (type of CLN1) infantile CLN (type of CLN1) infantile neuronal ceroid lipofuscinosis juvenile CLN (type of CLN1) neuronal ceroid lipofuscinosis, infantile congenital NCL congenital neuronal ceroid lipofuscinosis lipofuscin storage disease neuronal ceroid lipofuscinosis 1 https://rarediseases.info.nih.gov/diseases/1219/ceroid-lipofuscinosis-neuronal-1 MONDO:0009745 Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes (mutations) in the CLN5 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms. CLN5 CLN5 neuronal ceroid lipofuscinosis ceroid lipofuscinosis, neuronal, type 5 neuronal ceroid lipofuscinosis 5 variable age of onset neuronal ceroid lipofuscinosis caused by mutation in CLN5 neuronal ceroid lipofuscinosis type 5 CLN5 disease CLN5 disease, adult CLN5 disease, juvenile CLN5 disease, late infantile (subtype) Finnish Vlincl ceroid lipofuscinosis, neuronal, 5 ceroid lipofuscinosis, neuronal, 5, variable Age at onset neuronal ceroid lipofuscinosis Finnish variant neuronal ceroid lipofuscinosis, late infantile, Finnish variant neuronal ceroid lipofuscinosis 5 https://rarediseases.info.nih.gov/diseases/1223/neuronal-ceroid-lipofuscinosis-5 MONDO:0009746 Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever. CIP-anhidrosis syndrome HSAN4 NTRK1 hereditary sensory and autonomic neuropathy congenital insensitivity to pain with anhidrosis congenital insensitivity to pain-anhidrosis syndrome hereditary sensory and autonomic neuropathy caused by mutation in NTRK1 hereditary sensory and autonomic neuropathy type IV hereditary sensory neuropathy type IV insensitivity to pain, congenital, with anhidrosis CIPA HSAN 4 HSAN IV HSNAN4 familial dysautonomia, type 2 hereditary sensory and autonomic neuropathy 4 hereditary sensory neuropathy type 4 neuropathy, congenital sensory, with anhidrosis hereditary sensory and autonomic neuropathy type 4 MONDO:0009747 Navajo neurohepatopathy Navajo neuropathy MPV17-related hepatocerebral mitochondrial DNA depletion syndrome MTDPS6 NN Navajo familial neurogenic arthropathy mitochondrial DNA depletion syndrome 6 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) Navajo neurohepatopathy MONDO:0009748 This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia. HSAN with spastic paraplegia hereditary sensory and autonomic neuropathy with spastic paraplegia neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive hereditary sensory and autonomic neuropathy with spastic paraplegia MONDO:0009749 Giant axonal neuropathy (GAN) is a degenerative disorder that is characterised by a progressive motor and sensitive peripheral and central nervous system neuropathy. https://github.com/monarch-initiative/mondo/issues/2532 https://github.com/monarch-initiative/mondo/issues/4521 GAN giant axonal neuropathy gan gan giant axonal neuropathy giant axonal neuropathy 1 giant axonal neuropathy caused by mutation in GAN giant axonal neuropathy caused by mutation in gan giant axonal neuropathy type 1 giant axonal neuropathy-1 GAN1 giant axonal neuropathy 1, autosomal recessive neuropathy, giant axonal giant axonal neuropathy 1 MONDO:0009750 neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive Charcot-Marie-Tooth disease with excessive myelin folding, autosomal recessive HMSN with excessive myelin Outfolding, autosomal recessive neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive MONDO:0009751 A hereditary sensory neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities. neuropathy, hereditary sensory, atypical atypical hereditary sensory neuropathy neuropathy, hereditary sensory, atypical MONDO:0009752 neuropathy, painful neuropathy, painful MONDO:0009754 neutropenia, lethal congenital, with eosinophilia lethal congenital neutropenia with eosinophilia neutropenia lethal congenital with eosinophilia neutropenia, lethal congenital, with eosinophilia https://rarediseases.info.nih.gov/diseases/6107/neutropenia-lethal-congenital-with-eosinophilia MONDO:0009755 Solitary or multiple, slightly raised, pigmented lesions with irregular borders, usually measuring more than 0.6cm in greatest dimension. Morphologically, there is melanocytic atypia and the differential diagnosis from melanoma may be difficult. Patients are at an increased risk for the development of melanoma. Atypical Nevus Clark Nevus Clark's Nevus Nevus with architectural disorder Nevus with architectural disorder and cytologic atypia of melanocytes dysplastic Nevus dysplastic nevi dysplastic nevus lentiginous Nevus neutrophil actin dysfunction NAD neutrophil actin dysfunction MONDO:0009756 Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders. https://github.com/monarch-initiative/mondo/issues/4984 Niemann-PICK disease, type A Niemann-Pick disease, Intermediate, protracted neurovisceral sphingomyelin lipidosis sphingomyelinase deficiency Niemann-Pick disease type A MONDO:0009757 Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein. Niemann-Pick disease, type C1 type C1 Niemann-Pick disease NPC1 Niemann-PICK disease, type C1 Niemann-Pick disease type C1 Niemann-Pick disease with cholesterol esterification block Niemann-Pick disease without sphingomyelinase deficiency Niemann-Pick disease, chronic neuronopathic form Niemann-Pick disease, nova Scotian type Niemann-Pick disease, subacute juvenile form Niemann-Pick disease, type C Niemann-Pick disease, type D neurovisceral storage disease with vertical supranuclear ophthalmoplegia Niemann-Pick disease, type C1 MONDO:0009758 Any congenital stationary night blindness in which the cause of the disease is a mutation in the GRM6 gene. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5693 CSNB1B GRM6 congenital stationary night blindness autosomal recessive complete congenital stationary night blindness congenital stationary night blindness 1B congenital stationary night blindness 1B autosomal recessive congenital stationary night blindness caused by mutation in GRM6 congenital stationary night blindness type 1B night blindness, congenital stationary (complete), 1B, autosomal recessive CSNB, complete, autosomal recessive night blindness, congenital stationary, complete, autosomal recessive night blindness, congenital stationary, type 1B congenital stationary night blindness 1B MONDO:0009759 Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the BUB1B gene. BUB1B mosaic variegated aneuploidy syndrome Mosaic variegated aneuploidy syndrome type 1 mosaic variegated aneuploidy syndrome 1 mosaic variegated aneuploidy syndrome caused by mutation in BUB1B mosaic variegated aneuploidy syndrome type 1 MOSAIC variegated aneuploidy syndrome 1 MVA syndrome MVA1 mosaic variegated aneuploidy syndrome 1 MONDO:0009760 Lissencephaly syndrome, Norman-Roberts type is characterised by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation. https://github.com/monarch-initiative/mondo/issues/4521 Microlissencephaly type A Norman-Roberts syndrome lissencephaly 2 lissencephaly 2 (Norman-Roberts type) lissencephaly syndrome, Norman-Roberts type LIS2 Norman Roberts lissencephaly syndrome lissencephaly syndrome Norman-Roberts type Norman-Roberts syndrome MONDO:0009761 A benign lymphatic neoplasm usually arising from the neck and characterized by cystic dilation of the lymphatic vessels. cystic hygroma cystic lymphangioma hygroma cystic hygroma, fetal macrocystic lymphatic malformation nuchal bleb, familial cystic hygroma MONDO:0009762 https://github.com/monarch-initiative/mondo/issues/4069 nystagmus, congenital, autosomal recessive Nystagmus, congenital motor, autosomal recessive nystagmus, congenital, autosomal recessive MONDO:0009763 Hypoventilation syndrome in very obese persons with excessive adipose tissue around the abdomen and diaphragm is characterized by diminished to absent ventilatory chemoresponsiveness; chronic hypoxia; hypercapnia; polycythemia; and long periods of sleep during day and night (hypersomnolence). It is a condition often related to obstructive sleep apnea but can occur separately. obesity-hypoventilation syndrome Pickwickian syndrome obesity-hypoventilation syndrome MONDO:0009764 Ocular motor apraxia, Cogan type is characterised by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type. https://github.com/monarch-initiative/mondo/issues/4521 oculomotor apraxia, Cogan type oculomotor apraxia, congenital, Cogan-type COMA Cogan syndrome type 2 Cogan's syndrome type 2 congenital oculomotor apraxia ocular motor apraxia oculomotor apraxia Cogan type saccade initiation failure congenital saccade initiation failure, congenital ocular motor apraxia, Cogan type MONDO:0009765 ocular myopathy with curare sensitivity ocular myopathy with curare sensitivity MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus oculocerebral hypopigmentation syndrome type Preus oculocerebral hypopigmentation syndrome of Preus MONDO:0009767 Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia. Cross syndrome Kramer syndrome hypopigmentation oculocerebral syndrome Cross type oculocerebral hypopigmentation syndrome oculocerebral syndrome with hypopigmentation oculocerebral hypopigmentation syndrome, Cross type MONDO:0009768 Autosomal recessive form of oculodentodigital dysplasia. https://github.com/monarch-initiative/mondo/issues/4948 autosomal recessive oculodentodigital dysplasia oculodentodigital dysplasia, autosomal recessive ODDD, autosomal recessive ODOD recessive ODOD, autosomal recessive oculodentoosseous dysplasia recessive oculodentoosseous dysplasia, autosomal recessive oculodentodigital dysplasia, autosomal recessive MONDO:0009769 Oculopalatocerebral syndrome is characterised by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities. https://github.com/monarch-initiative/mondo/issues/5588 oculo-palato-cerebral dwarfism OPC dwarfism oculopalatocerebral dwarfism oculopalatocerebral syndrome oculo-palato-cerebral syndrome MONDO:0009770 Any 3MC syndrome in which the cause of the disease is a mutation in the MASP1 gene. 3MC syndrome 1 3MC syndrome caused by mutation in MASP1 3MC syndrome type 1 3Mc syndrome type 1 MASP1 3MC syndrome 3MC1 Michels syndrome Michels syndrome, formerly craniosynostosis with 51D anomalies oculopalatoskeletal syndrome 3MC syndrome 1 MONDO:0009771 Oculotrichodysplasia is characterised by retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. It has been described in two siblings (brother and sister) born to first cousin parents. Transmission appears to be autosomal recessive. Cecato de Lima-Pinheiro syndrome oculotrichodysplasia OTD oculotrichodysplasia MONDO:0009772 oculorenocerebellar syndrome ORC syndrome absence of the cerebellar granular layer, intellectual disability, tapetoretinal degeneration and progressive glomerulopathy absence of the cerebellar granular layer, mental retardation, tapetoretinal degeneration and progressive glomerulopathy oculorenocerebellar syndrome https://rarediseases.info.nih.gov/diseases/4050/oculorenocerebellar-syndrome MONDO:0009773 A form of ectodermal dysplasia characterised by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair. https://github.com/monarch-initiative/mondo/issues/3293 ectodermal dysplasia OODD odontoonychodermal dysplasia odonto-onycho-dermal dysplasia MONDO:0009774 A major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations. https://github.com/monarch-initiative/mondo/issues/3650 cloacal exstrophy (disease) cloacal exstrophy cloacal exstrophy (disease) omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome OEIS complex OEIS syndrome cloacal exstrophy sequence omphalocele - cloacal exstrophy - imperforate anus - spinal defect omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex omphalocele-exstrophy-imperforate anus-spinal defects cloacal exstrophy MONDO:0009775 Any Oguchi disease in which the cause of the disease is a mutation in the SAG gene. CSNBO1 Oguchi disease caused by mutation in SAG Oguchi disease type 1 SAG Oguchi disease congenital stationary night blindness Oguchi type 1 Oguchi disease 1 night blindness, congenital stationary, Oguchi type 1 Oguchi disease-1 MONDO:0009776 SPGF1 spermatogenic failure 1 Oligochiasmatic infertility Oligosynaptic infertility spermatogenic failure 1 MONDO:0009777 Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy. https://github.com/monarch-initiative/mondo/issues/5588 Oliver syndrome postaxial polydactyly-intellectual disability syndrome postaxial polydactyly and intellectual disability postaxial polydactyly and mental retardation Oliver syndrome https://rarediseases.info.nih.gov/diseases/4069/oliver-syndrome MONDO:0009778 olivopontocerebellar atrophy II, autosomal recessive OPCA II, Fickler-Winkler type olivopontocerebellar atrophy II, autosomal recessive MONDO:0009779 Autosomal recessive form of omodysplasia. https://github.com/monarch-initiative/mondo/issues/4948 autosomal recessive omodysplasia micromelic dysplasia-dislocation of radius syndrome omodysplasia type 1 omodysplasia, autosomal recessive OMOD1 micromelic dysplasia congenita with dislocation of radius micromelic dysplasia, congenital, with dislocation of radius omodysplasia 1 omodysplasia autosomal recessive omodysplasia generalized form omodysplasia, generalized form autosomal recessive omodysplasia MONDO:0009780 Lethal omphalocele-cleft palate syndrome is characterized by the association of omphalocele and cleft palate. It has been described in three daughters of normal unrelated parents. They were all diagnosed at birth. One had omphalocele, posterior cleft palate, and uterus bicornuatus; she died at 2 months. The second had omphalocele, cleft uvula, and hydrocephalus and died at 4 months; the third had omphalocele and cleft palate and died at 1 year. This syndrome is likely to be inherited as an autosomal recessive condition. https://github.com/monarch-initiative/mondo/issues/5588 Czeizel syndrome cleft palate-omphalocele syndrome, lethal omphalocele cleft palate syndrome lethal omphalocele-cleft palate syndrome, lethal lethal omphalocele-cleft palate syndrome https://rarediseases.info.nih.gov/diseases/4079/omphalocele-cleft-palate-syndrome-lethal MONDO:0009781 Onychotrichodysplasia and neutropenia onycho-tricho-dysplasia-neutropenia syndrome Onychotrichodysplasia and neutropenia https://rarediseases.info.nih.gov/diseases/10161/onychotrichodysplasia-and-neutropenia MONDO:0009782 ophthalmoplegia totalis with ptosis and miosis ophthalmoplegia totalis with ptosis and miosis MONDO:0009783 Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene. POLG autosomal recessive progressive external ophthalmoplegia autosomal recessive progressive external ophthalmoplegia caused by mutation in POLG progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 1 PEOB1 arPEO autosomal recessive progressive external ophthalmoplegia cerebellar ataxia infantile with progressive external ophthalmoplegia progressive external ophthalmoplegia with cerebellar ataxia infantile progressive external ophthalmoplegia, autosomal recessive 1 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 https://rarediseases.info.nih.gov/diseases/1191/progressive-external-ophthalmoplegia-autosomal-recessive-1 MONDO:0009784 ophthalmoplegic neuromuscular disorder with abnormal mitochondria ophthalmoplegic neuromuscular disorder with abnormal mitochondria MONDO:0009785 Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism. https://github.com/monarch-initiative/mondo/issues/4948 opsismodysplasia OPSISMODYSPLASIA OPSMD opsismodysplasia https://rarediseases.info.nih.gov/diseases/4098/opsismodysplasia MONDO:0009786 OPA6 optic atrophy 6 optic atrophy, congenital or early infantile, autosomal recessive optic atrophy 6 MONDO:0009787 3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria. OPA3 defect 3-methylglutaconic aciduria caused by mutation in OPA3 3-methylglutaconic aciduria type III Costeff optic atrophy syndrome Costeff syndrome Iraqi-Jewish optic atrophy plus MGA3 OPA3 3-methylglutaconic aciduria autosomal recessive optic atrophy plus syndrome autosomal recessive optic atrophy type 3 infantile optic atrophy with chorea and spastic paraplegia 3-alpha methylglutaconic aciduria type III 3-methylglutaconic aciduria, type 3 3-methylglutaconic aciduria, type III Iraqi Jewish optic atrophy plus Iraqi-Jewish 'optic atrophy plus' MGA type III MGA, type 3 MGCA3 OPA3, autosomal recessive optic atrophy 3, autosomal recessive optic atrophy infantile with chorea and spastic paraplegia optic atrophy plus syndrome optic atrophy, infantile, with chorea and spastic paraplegia 3-methylglutaconic aciduria type 3 MONDO:0009788 optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive MONDO:0009789 nonarteritic anterior ischemic optic neuropathy, susceptibility to Naion, susceptibility to optic neuropathy, anterior ischemic, susceptibility to susceptibility to nonarteritic anterior ischemic optic neuropathy nonarteritic anterior ischemic optic neuropathy, susceptibility to MONDO:0009790 Opticocochleodentate degeneration Opticocochleodentate degeneration MONDO:0009791 oral sensibility, disturbance of disturbance of oral sensitivity impairment of oral perception oral sensibility, disturbance of https://rarediseases.info.nih.gov/diseases/9476/impairment-of-oral-perception MONDO:0009792 Ichthyosis-oral and digital anomalies syndrome is characterised by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two sibs born to first cousin parents. Transmission appears to be autosomal recessive. Clayton Smith-Donnai syndrome ichthyosis tapered fingers midline groove up oral and digital anomalies with ichthyosis unusual facies, digital abnormalities, and ichthyosis ichthyosis-oral and digital anomalies syndrome MONDO:0009793 Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit. https://github.com/monarch-initiative/mondo/issues/5588 OFD3 Sugarman syndrome oral-facial-digital syndrome type 3 orofaciodigital syndrome III orofaciodigital syndrome type III OFD syndrome 3 Ofds 3 oral facial digital syndrome 3 oral facial digital syndrome type 3 oral-Facial-digital syndrome, type 3 orofaciodigital syndrome 3 orofaciodigital syndrome type 3 orofaciodigital syndrome III https://rarediseases.info.nih.gov/diseases/10518/orofaciodigital-syndrome-3 MONDO:0009794 Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet. https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5588 Baraitser-Burn syndrome Mohr-Majewski syndrome OFD4 oral-facial-digital syndrome type 4 orofaciodigital syndrome IV orofaciodigital syndrome type 4 orofaciodigital syndrome type IV OFD syndrome 4 Ofd syndrome with tibial defects Ofd syndrome, Baraitser-Burn type Ofds 4 oral facial digital syndrome 4 oral facial digital syndrome type 4 oral-Facial-digital syndrome, type 4 orofaciodigital syndrome 4 orofaciodigital syndrome with tibial dysplasia orofaciodigital syndrome IV https://rarediseases.info.nih.gov/diseases/816/orofaciodigital-syndrome-4 MONDO:0009795 Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment). OFD9 oral-facial-digital syndrome type 9 oral-facial-digital syndrome with retinal abnormalities orofaciodigital syndrome IX orofaciodigital syndrome type IX orofaciodigital syndrome with retinal abnormalities OFD syndrome 9 Ofds 9 oral facial digital syndrome 9 oral facial digital syndrome type 9 oral-Facial-digital syndrome with retinal abnormalities oral-Facial-digital syndrome, type 9 orofaciodigital syndrome 9 orofaciodigital syndrome type 9 orofaciodigital syndrome IX https://rarediseases.info.nih.gov/diseases/10520/orofaciodigital-syndrome-9 MONDO:0009796 A very rare inherited retinal dystrophy characterized by progressive chorioretinal atrophy, myopia and early cataract. https://github.com/monarch-initiative/mondo/issues/4521 GACR Ornithinemia with gyrate atrophy gyrate atrophy gyrate atrophy of choroid and retina with or without ornithinemia gyrate atrophy of the choroid and/or retina gyrate atrophy of the retina hoga hyperornithinemia hyperornithinemia-gyrate atrophy of choroid and retina syndrome ornithine aminotransferase deficiency Fuchs atrophia gyrata chorioideae et retinae Fuchs gyrate atrophy Fuchs gyrate atrophy of the choroid and retina Girate atrophy of the retina OAT deficiency OKT deficiency Oat deficiency Okt deficiency Ornithinemia gyrate atrophy of choroid and retina hyperornithinemia with gyrate atrophy of choroid and retina ornithine Keto acid aminotransferase deficiency ornithine ketoacid aminotransferase deficiency ornithine-Delta-aminotransferase deficiency ornithine aminotransferase deficiency https://rarediseases.info.nih.gov/diseases/6556/gyrate-atrophy-of-choroid-and-retina MONDO:0009797 An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine. orotic aciduria oroticaciduria orotidylic decarboxylase deficiency uridine monophosphate synthetase deficiency OPRT and ODC deficiency UMP synthtase deficiency UMPS Ump synthase deficiency Umps deficiency hereditary orotic aciduria orotate phosphoribosyltransferase and OMP decarboxylase deficiency orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency orotic aciduria 1 orotic aciduria II (formerly) orotic aciduria type 1 orotic aciduria without megaloblastic Anemia oroticaciduria 1 orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency uridine monophosphate synthase deficiency orotic aciduria MONDO:0009798 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy. https://github.com/monarch-initiative/mondo/issues/5588 primrose syndrome PRIMS ossified EAR cartilages with mental deficiency, muscle wasting, and BONY changes intellectual disability-cataracts-calcified pinnae-myopathy syndrome MONDO:0009800 Blount disease, adolescent Osteochondrosis deformans tibiae, adolescent tibia vara, adolescent Blount disease, adolescent MONDO:0009801 Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982. osteodysplasia familial Anderson type osteodysplasia, familial, Anderson type familial osteodysplasia, Anderson type https://rarediseases.info.nih.gov/diseases/4136/osteodysplasia-familial-anderson-type MONDO:0009802 osteodysplasty, precocious, of Danks, Mayne, and Kozlowski Danks Mayne Kozlowski precocious osteodysplasty osteodysplasty precocious of Danks Mayne and Kozlowski osteodysplasty, precocious, of Danks, Mayne, and Kozlowski https://rarediseases.info.nih.gov/diseases/8662/osteodysplasty-precocious-of-danks-mayne-and-kozlowski MONDO:0009803 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome is characterised by multiple fractures in the prenatal period, microcephaly and bilateral cataracts. It has been described in three infants all of whom died in utero or a few hours after birth. The mode of inheritance appears to be autosomal recessive. https://github.com/monarch-initiative/mondo/issues/4069 osteogenesis imperfecta congenita, microcephaly, and cataracts congenital osteogenesis imperfecta-microcephaly-cataracts syndrome MONDO:0009804 Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI). https://github.com/monarch-initiative/mondo/issues/4948 OI type 3 OI3 osteogenesis imperfecta type 3 osteogenesis imperfecta type III progressive deforming osteogenesis imperfecta progressively deforming osteogenesis imperfecta with normal sclera severe osteogenesis imperfecta OI type III OI, type 3 Oi3 osteogenesis imperfecta, progressively deforming with normal sclerae osteogenesis imperfecta, progressively deforming, with normal sclerae osteogenesis imperfecta, type 3 osteogenesis imperfecta, type III progressively deforming OI osteogenesis imperfecta type 3 MONDO:0009805 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the PPIB gene. https://github.com/monarch-initiative/mondo/issues/4948 OI9 PPIB osteogenesis imperfecta osteogenesis imperfecta caused by mutation in PPIB osteogenesis imperfecta type 9 osteogenesis imperfecta type IX OI 9 OI type IX OI, type 9 osteogenesis imperfecta sillence type II/III without abnormality of type I collagen osteogenesis imperfecta, type 9 osteogenesis imperfecta, type IX osteogenesis imperfecta type 9 MONDO:0009806 Any Bruck syndrome in which the cause of the disease is a mutation in the FKBP10 gene. https://github.com/monarch-initiative/mondo/issues/4948 Bruck syndrome 1 Bruck syndrome caused by mutation in FKBP10 Bruck syndrome type 1 FKBP10 Bruck syndrome arthrogryposis-like disorder BRKS1 Kuskokwim disease Bruck syndrome 1 MONDO:0009807 A usually aggressive malignant bone-forming mesenchymal neoplasm, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain with or without a palpable mass is the most frequent clinical symptom. It may spread to other anatomic sites, particularly the lungs. https://github.com/monarch-initiative/mondo/issues/5537 osteosarcoma (disease) bone tissue neoplasm osteogenic sarcoma osteoid sarcoma osteosarcoma osteosarcoma (disease) osteosarcoma, malignant sarcoma of osteoid osteosarcoma MONDO:0009808 A small, benign, bone-forming neoplasm that can arise from any bone but more frequently affects the long bones. The central portion of the neoplasm (nidus) contains differentiated osteoblasts which produce osteoid and sometimes bone. The lesion is usually surrounded by hypervascular sclerotic bone and has limited growth potential. Clinical signs and symptoms include pain and localized tenderness, at the site of the lesion. The pain may be intense but in the majority of cases it is completely alleviated by non-steroidal anti-inflammatory drugs. Prognosis is excellent and recurrences are rare. osteoid osteoma (disease) osteoid osteoma osteoid osteoma (disease) osteoid osteoma MONDO:0009809 A rare, autosomal recessive inherited syndrome caused by mutations in the MMP2 gene. It is characterized by the presence of multiple, painless subcutaneous nodules, osteolysis particularly in the hands and feet, osteoporosis, and arthropathy. https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5784 multicentric osteolysis, nodulosis, and arthropathy Al-Aqeel Sewairi syndrome NAO syndrome Torg syndrome Torg-Winchester syndrome Torg-Winchester syndrome, formerly mona nodulosis-arthropathy-osteolysis syndrome osteolysis, hereditary multicentric multicentric osteolysis, nodulosis, and arthropathy MONDO:0009810 Autosomal recessive distal osteolysis syndrome is an early-onset distal osteolysis characterised by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait. Petit-Fryns syndrome distal osteolysis-short stature-intellectual disability syndrome osteolysis syndrome recessive osteolysis syndrome, recessive osteolysis, distal, with short stature, intellectual disability, and characteristic Facial appearance osteolysis, distal, with short stature, intellectual disability, and characteristic facial appearance osteolysis, distal, with short stature, mental retardation, and characteristic Facial appearance osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance autosomal recessive distal osteolysis syndrome MONDO:0009811 osteoma of middle ear osteoma of middle ear MONDO:0009813 Chronic non bacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis (CRMO), is a chronic autoinflammatory syndrome that is characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine. chronic recurrent multifocal osteomyelitis (disease) CNO/CRMO CRMO NBO chronic multifocal osteomyelitis chronic recurrent multifocal osteomyelitis chronic recurrent multifocal osteomyelitis (disease) non-bacterial osteomyelitis CMO chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis multifocal osteomyelitis, chronic osteomyelitis, chronic multifocal chronic recurrent multifocal osteomyelitis MONDO:0009814 Kaler-Garrity-Stern syndrome is a rare syndrome, described in two sisters of Mennonite descent, characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992. https://github.com/monarch-initiative/mondo/issues/5588 Kaler-Garrity-Stern syndrome Kaler Garrity Stern syndrome osteopenia and sparse hair osteopenia intellectual disability sparse hair osteopenia mental retardation sparse hair osteopenia-intellectual disability-sparse hair syndrome MONDO:0009815 Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TCIRG1 gene. https://github.com/monarch-initiative/mondo/issues/4948 OPTB1 TCIRG1 autosomal recessive malignant osteopetrosis TCIRG1 autosomal recessive osteopetrosis autosomal recessive Albers-Schonberg disease autosomal recessive malignant osteopetrosis caused by mutation in TCIRG1 autosomal recessive osteopetrosis 1 autosomal recessive osteopetrosis caused by mutation in TCIRG1 autosomal recessive osteopetrosis type 1 infantile malignant osteopetrosis 1 osteopetrosis, autosomal recessive type 1 Albers-Schonberg disease, autosomal recessive marble bones autosomal recessive marble bones, autosomal recessive osteopetrosis autosomal recessive 1 osteopetrosis infantile malignant 1 osteopetrosis, autosomal recessive 1 osteopetrosis, infantile malignant 1 autosomal recessive osteopetrosis 1 https://rarediseases.info.nih.gov/diseases/2579/osteopetrosis-autosomal-recessive-1 MONDO:0009816 Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFSF11 gene. https://github.com/monarch-initiative/mondo/issues/4948 OPTB2 TNFSF11 autosomal recessive malignant osteopetrosis TNFSF11 autosomal recessive osteopetrosis autosomal recessive malignant osteopetrosis caused by mutation in TNFSF11 autosomal recessive osteopetrosis caused by mutation in TNFSF11 autosomal recessive osteopetrosis type 2 mild autosomal recessive form osteopetrosis osteoclast-poor osteopetrosis osteopetrosis, autosomal recessive type 2 osteopetrosis autosomal recessive 2 osteopetrosis osteoclast-poor osteopetrosis, autosomal recessive 2 osteopetrosis, mild autosomal recessive form osteopetrosis, osteoclast-poor autosomal recessive osteopetrosis 2 https://rarediseases.info.nih.gov/diseases/4157/osteopetrosis-autosomal-recessive-2 MONDO:0009817 Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the OSTM1 gene. https://github.com/monarch-initiative/mondo/issues/4948 OPTB5 OSTM1 osteopetrosis (disease) autosomal recessive osteopetrosis 5 autosomal recessive osteopetrosis type 5 infantile malignant osteopetrosis 3 osteopetrosis (disease) caused by mutation in OSTM1 osteopetrosis, autosomal recessive type 5 osteopetrosis autosomal recessive 5 osteopetrosis infantile malignant 3 osteopetrosis, autosomal recessive 5 osteopetrosis, infantile malignant 3 autosomal recessive osteopetrosis 5 https://rarediseases.info.nih.gov/diseases/4153/osteopetrosis-autosomal-recessive-5 MONDO:0009818 Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 Autosomal Recessive osteopetrosis, type 3 CA2 osteopetrosis (disease) Guibaud-Vainsel syndrome OPTB3 autosomal recessive osteopetrosis 3 with renal tubular acidosis autosomal recessive osteopetrosis type 3 carbonic anhydrase 2 deficiency carbonic anhydrase II deficiency marble brain disease mixed RTA mixed renal tubular acidosis osteopetrosis (disease) caused by mutation in CA2 osteopetrosis with renal tubular acidosis osteopetrosis, autosomal recessive 3, with renal tubular acidosis osteopetrosis, autosomal recessive type 3 renal tubular acidosis type 3 Guibaud Vainsel syndrome osteopetrosis autosomal recessive 3 osteopetrosis, autosomal recessive 3 autosomal recessive osteopetrosis 3 https://rarediseases.info.nih.gov/diseases/4154/osteopetrosis-autosomal-recessive-3 MONDO:0009820 Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures. https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5588 OPPG ocular form of osteogenesis imperfecta osteoporosis-pseudoglioma syndrome Ops osteogenesis imperfecta ocular form osteogenesis imperfecta, ocular form osteoporosis pseudoglioma syndrome pseudoglioma with bone fragility osteoporosis-pseudoglioma syndrome https://rarediseases.info.nih.gov/diseases/4160/osteoporosis-pseudoglioma-syndrome MONDO:0009821 Generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course. https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/4966 RAINE syndrome Raine syndrome lethal osteosclerotic bone dysplasia osteomalacia, sclerosing, with cerebral calcification osteosclerotic bone dysplasia, lethal RNS combination of microcephaly, exophthalmos, hypoplastic nose and midface, gum hyperplasia, cleft palate, apparently low-set ears, and osteosclerosis lethal osteosclerotic bone dysplasia MONDO:0009822 otoonychoperoneal syndrome oto-onycho-peroneal syndrome otoonychoperoneal syndrome https://rarediseases.info.nih.gov/diseases/4170/otoonychoperoneal-syndrome MONDO:0009823 A rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement. https://github.com/monarch-initiative/mondo/issues/2632 AGXT primary hyperoxaluria PH1 glycolic aciduria peroxisomal alanine-glyoxylate aminotransferase deficiency primary hyperoxaluria caused by mutation in AGXT primary hyperoxaluria type 1 primary hyperoxaluria type I HP1 Oxalosis 1 alanine-glyoxylate aminotransferase deficiency hepatic AGT deficiency hyperoxaluria, primary, type 1 hyperoxaluria, primary, type I peroxisomal alanine glyoxylate aminotransferase deficiency peroxisomal alanine:glyoxylate aminotransferase deficiency serine pyruvate aminotransferase deficiency serine:pyruvate aminotransferase deficiency primary hyperoxaluria type 1 https://rarediseases.info.nih.gov/diseases/2835/primary-hyperoxaluria-type-1 MONDO:0009824 Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis. D-glycerate dehydrogenase deficiency GRHPR primary hyperoxaluria L-glyceric aciduria primary hyperoxaluria caused by mutation in GRHPR primary hyperoxaluria type 2 primary hyperoxaluria type II HP2 Oxalosis 2 glyceric aciduria glyoxylate reductase/hydroxypyruvate reductase deficiency hyperoxaluria, primary, type 2 hyperoxaluria, primary, type II primary hyperoxaluria type 2 https://rarediseases.info.nih.gov/diseases/2836/primary-hyperoxaluria-type-2 MONDO:0009825 5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria. https://github.com/monarch-initiative/mondo/issues/4985 5-oxoprolinase deficiency (disease) 5-oxoprolinase deficiency 5-oxoprolinase deficiency (disease) inborn 5-oxoprolinase (ATP-hydrolyzing) activity disorder inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity oxoprolinuria due to oxoprolinase deficiency rare inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity 5-alpha-oxoprolinase deficiency OPLAHD oxoprolinuria due to 5-oxoprolinase deficiency 5-oxoprolinase deficiency MONDO:0009826 PA polymorphism of alpha-2-globulin Alpha-2-globulin polymorphism Pa PA polymorphism of alpha-2-globulin MONDO:0009828 Palant cleft palate syndrome unusual facies, cleft palate, intellectual disability, and limb abnormalities unusual facies, cleft palate, mental retardation, and limb abnormalities palant cleft palate syndrome https://rarediseases.info.nih.gov/diseases/4198/palant-cleft-palate-syndrome MONDO:0009830 A Parkinson's disease that has material basis in mutation in the FBXO7 gene on chromosome 22q12.3. https://github.com/monarch-initiative/mondo/issues/4521 Pallidopyramidal syndrome Parkinson disease 15, autosomal recessive autosomal recessive early-onset Parkinson disease 15 autosomal recessive early-onset Parkinson disease type 15 pallidopyramidal syndrome parkinsonian-pyramidal syndrome PARK15 Parkinson disease 15, autosomal recessive early-onset autosomal recessive early-onset Parkinson's disease 15 pallido-pyramidal disease pallido-pyramidal syndrome parkinsonian-pyramidal syndrome MONDO:0009831 A malignant neoplasm involving the pancreas. pancreas neoplasm Ca body of pancreas Ca head of pancreas Ca tail of pancreas cancer of pancreas malignant neoplasm of body of pancreas malignant neoplasm of head of pancreas malignant neoplasm of pancreas malignant neoplasm of tail of pancreas malignant neoplasm of the pancreas malignant pancreas neoplasm malignant pancreatic neoplasm pancreas cancer pancreatic cancer malignant pancreatic neoplasm MONDO:0009832 Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue. congenital pancreatic agenesis pancreatic agenesis type 1 partial agenesis of the pancreas partial pancreatic agenesis PAGEN1 pancreatic agenesis 1 pancreatic agenesis MONDO:0009833 Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation. SDS Schwachman-Diamond syndrome Schwachmann-Diamond syndrome Shwachman syndrome Shwachman-Bodian-Diamond syndrome Shwachman-Diamond syndrome pancreatic insufficiency and bone marrow dysfunction Shwachman-Bodian syndrome Shwachman-Diamond type metaphyseal dysplasia congenital lipomatosis of pancreas lipomatosis of pancreas, congenital Shwachman-Diamond syndrome https://rarediseases.info.nih.gov/diseases/4863/shwachman-diamond-syndrome MONDO:0009835 Subacute sclerosing panencephalitis (SSPE) is a chronic progressive encephalitis that develops a few years after measles infection and presents with a demyelination of the cerebral cortex. Dawson's encephalitis Immunosuppressive measles encephalitis SSPE Subacute inclusion body encephalitis Subacute sclerosing panencephalitis Subacute sclerosing panencephalitis (disorder) [ambiguous] Van Bogaert disease Van Bogaert encephalitis Van Bogaert's sclerosing leukoencephalitis subacute sclerosing leukoencephalopathy subacute sclerosing panencephalitis Dawson disease Dawson encephalitis Subacute sclerosing leukoencephalitis panencephalitis, SUBACUTE sclerosing subacute sclerosing panencephalitis https://rarediseases.info.nih.gov/diseases/7708/subacute-sclerosing-panencephalitis MONDO:0009836 pancreatitis, sclerosing cholangitis, and sicca complex pancreatitis, sclerosing cholangitis, and sicca complex MONDO:0009837 Papilloma of the choroid plexus is a rare benign type of choroid plexus tumor, accounting for 1% of all brain tumors, often occurring in the fourth ventricle (in adults) and the lateral ventricle (in children) but sometimes arising ectopically in the brain parenchyma, and presenting with nausea, vomiting, papilledema, abnormal eye movements, as well as enlarged head circumference, seizures and gait impairment due to an increase in intracranial pressure. choroid plexus papilloma choroid plexus papilloma, no ICD-O subtype papilloma of the choroid plexus childhood choroid plexus papilloma childhood papilloma of choroid plexus choroid plexus papilloma NOS (morphologic abnormality) pediatric papilloma of choroid plexus CPP choroid plexus carcinoma papilloma of choroid plexus papilloma, choroid plexus, benign choroid plexus papilloma MONDO:0009838 A rare disorder characterized by rigid, thick skin that covers the entire body and affects movements. The movement of the chest and abdomen is severely restricted. Affected individuals develop respiratory insufficiency which may lead to death. Parana hard-skin syndrome hard skin syndrome Parana type hard skin syndrome, Parana type hard-skin syndrome, Parana type Parana hard skin syndrome Parana hard-skin syndrome MONDO:0009839 PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease. https://github.com/monarch-initiative/mondo/issues/4521 PSP-p PSP-parkinsonism supranuclear palsy, progressive atypical Parkinson-dementia syndrome Steele-Richardson-Olszewski syndrome, atypical atypical PSP progressive supranuclear palsy atypical supranuclear palsy, progressive, 1, atypical progressive supranuclear palsy-parkinsonism syndrome MONDO:0009840 Partington-Anderson syndrome Partington-Anderson syndrome MONDO:0009841 PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies. peho syndrome progressive encephalopathy with edema, hypsarrhythmia and optic atrophy progressive encephalopathy-optic atrophy syndrome infantile Cerebellooptic atrophy peho peho-like syndrome progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy PEHO syndrome https://rarediseases.info.nih.gov/diseases/4264/peho-syndrome MONDO:0009842 An autoinflammatory disease with defective neutrophil function caused by a homozygous Arg219His mutation in the transcription factor C/EBPε. https://github.com/monarch-initiative/mondo/issues/5261 Pelger-Huet-like anomaly and episodic fever with abdominal pain immunodeficiency 108 with autoinflammation Pelger-Huet-like anomaly and episodic fever with abdominal pain MONDO:0009843 Any leukodystrophy in which the cause of the disease is a mutation in the AIMP1 gene. AIMP1 leukodystrophy HLD3 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation hypomyelinating leukodystrophy 3 hypomyelinating leukodystrophy type 3 leukodystrophy caused by mutation in AIMP1 leukodystrophy, hypomyelinating, type 3 leukodystrophy, hypomyelinating 3 leukodystrophy, hypomyelinating, 3 perinatal Sudanophilic leukodystrophy hypomyelinating leukodystrophy 3 https://rarediseases.info.nih.gov/diseases/4266/leukodystrophy-hypomyelinating-3 MONDO:0009844 pellagra-like skin rash-neurological manifestations syndrome pellagra-like syndrome pellagra like syndrome pellagra-like rash with neurologic manifestations pellagra-like syndrome https://rarediseases.info.nih.gov/diseases/4267/pellagra-like-syndrome MONDO:0009845 Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism. https://github.com/monarch-initiative/mondo/issues/4948 Cousin syndrome familial pelvis-scapular dysplasia pelviscapular dysplasia COUSIN syndrome craniofacial Dysmorphism, hypoplasia of scapula and pelvis, and short stature craniofacial dysmorphism, hypoplasia of scapula and pelvis and short stature pelviscapular dysplasia MONDO:0009846 Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4985 essential pentosuria pentosuria xylitol dehydrogenase deficiency L-Xylulosuria L-xylulose reductase deficiency PNTSU pentosuria https://rarediseases.info.nih.gov/diseases/418/pentosuria MONDO:0009847 Chronic form of pericardial effusion (disease). chronic pericardial effusion (disease) pericardial effusion (disease), chronic pericardial effusion, chronic cholesterol pericarditis pericardial effusion, chronic MONDO:0009848 Dissecting cellulitis of the scalp is a rare chronic suppurative dermatosis of the scalp that mainly affects black men and that is characterized by multiple painful inflammatory follicular and perifollicular nodules, pustules, and abscesses that interconnect via sinus tracts and eventually result in scarring alopecia. dissecting cellulitis of the scalp perifolliculitis capitis ABSCEDENS ET SUFFODIENS, familial dissecting cellulitis of the scalp https://rarediseases.info.nih.gov/diseases/1883/dissecting-cellulitis-of-the-scalp MONDO:0009849 Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs). HIDS hyper-IgD syndrome hyperimmunoglobinemia D with recurrent fever hyperimmunoglobulinemia D syndrome partial mevalonate kinase deficiency hyper IgD syndrome hyperimmunoglobulinemia D and periodic fever syndrome periodic fever Dutch type periodic fever, Dutch type hyperimmunoglobulinemia D with periodic fever MONDO:0009850 periodontitis, adult periodontitis, chronic periodontitis, chronic, adult MONDO:0009851 peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain MONDO:0009852 Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities. intrinsic factor deficiency IFD congenital intrinsic factor deficiency congenital pernicious anemia gastric intrinsic factor deficiency hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency congenital pernicious anemia due to defect of intrinsic factor intrinsic factor, congenital deficiency of pernicious Anemia, congenital, due to defect of intrinsic Factor hereditary intrinsic factor deficiency MONDO:0009853 Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood. Imerslund-Grasbeck syndrome Imerslund-Gräsbeck syndrome familial megaloblastic anemia juvenile megaloblastic Anemia selective cobalamin malabsorption with proteinuria Gräsbeck-Imerslund disease defect of enterocyte intrinsic factor receptor enterocyte cobalamin malabsorption Imerslund-Grasbeck syndrome MONDO:0009854 peroneus tertius muscle, absence of peroneus tertius muscle, absence of MONDO:0009855 A genetic disorder that affects the ability of the body to effectively break down fat from our diet. It is typically characterized by hypotonia (low muscle tone) and seizures in the newborn period. Other symptoms include unusual facial features and an enlarged liver (hepatomegaly). Most babies with this condition nevergain anydevelopmental skills and do not survive past the age of 2. DBP deficiency is caused by mutations in the HSD17B4 gene and is inherited in an autosomal recessive manner. Some researchers have suggested classifying DBP deficiency into three subtypes, depending on how severely the mutation in the HSD17B4 gene affects the function of the gene and the protein that it codes for. Almost all individuals with types I, II, and III have similar signs and symptoms. A fourth subtype has additionally been proposed for individuals that have less severe symptoms. While there is no cure for DBP deficiency, treatment is focused on improving nutrition and growth, controlling symptoms, and limiting the progression of liver disease. https://github.com/monarch-initiative/mondo/issues/2632 D-bifunctional enzyme deficiency HSD17B4 deficiency d-bifunctional protein deficiency multifunctional enzyme deficiency peroxisomal multifunctional enzyme (MFE2) deficiency peroxisomal multifunctional enzyme deficiency pseudo-Zellweger syndrome 17-beta-hydroxysteroid dehydrogenase 4 deficiency 17-beta-hydroxysteroid dehydrogenase IV deficiency DBP deficiency Pbfe deficiency bifunctional enzyme deficiency peroxisomal bifunctional enzyme deficiency d-bifunctional protein deficiency https://rarediseases.info.nih.gov/diseases/4539/d-bifunctional-protein-deficiency MONDO:0009856 An autosomal recessively inherited syndromic developmental defect of the eye characterized by a variable phenotype including Peters anomaly and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism. Krause-Kivlin syndrome Krause-van Schooneveld-Kivlin syndrome Peters anomaly with short limb dwarfism Peters anomaly-short limb dwarfism syndrome Peters-plus syndrome Peters anomaly with short-limb dwarfism Peters plus syndrome https://rarediseases.info.nih.gov/diseases/8422/peters-plus-syndrome MONDO:0009857 Persistent Mullerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys. https://github.com/monarch-initiative/mondo/issues/4521 PMDS persistent Muellerian duct syndrome persistent Mullerian derivatives persistent Mullerian duct syndrome persistent Müllerian derivatives persistent mullerian duct syndrome, type I persistent mullerian duct syndrome, type II female genital ducts in otherwise normal Male female genital ducts in otherwise normal male hernia uteri inguinale persistent MULLERIAN duct syndrome, types I and II persistent Müllerian duct syndrome persistent mullerian duct syndrome, types 1 and 2 persistent oviduct syndrome pseudohermaphroditism, Male internal persistent Mullerian duct syndrome https://rarediseases.info.nih.gov/diseases/8435/persistent-mullerian-duct-syndrome MONDO:0009858 Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit. https://github.com/monarch-initiative/mondo/issues/5588 Pfeiffer-Palm-Teller syndrome PPT syndrome Pfeiffer Palm Teller syndrome short stature unique facies enamel hypoplasia progressive joint stiffness and high-pitched voice short stature, unique facies, enamel hypoplasia, progressive Joint stiffness, and high-pitched voice Pfeiffer-Palm-Teller syndrome https://rarediseases.info.nih.gov/diseases/4305/pfeiffer-palm-teller-syndrome MONDO:0009859 Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects. PHAVER syndrome Powell-Chandra-Saal syndrome pterygia heart defects autosomal recessive inheritance vertebral defects Ear anomalies and radial defects PHAVER syndrome https://rarediseases.info.nih.gov/diseases/4465/phaver-syndrome MONDO:0009860 phenformin 4-hydroxylation phenformin 4-hydroxylation MONDO:0009861 Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4985 PAH deficiency PKU hyperphenylalaninemia, non-PKU mild phenylalanine hydroxylase deficiency phenylalaninemia phenylketonuria HPA, non-PKU mild imbecilitus phenylpyruvica oligophrenia Phenylpyruvica oligophrenia phenylpyruvica phenylketonuria, maternal phenylpyruvic oligophrenia phenylketonuria MONDO:0009862 Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties. 6,7-dihydropteridine reductase activity disease PKU type 2 dihydropteridine reductase deficiency disorder of 6,7-dihydropteridine reductase activity hyperphenylalaninemia due to dihydropteridine reductase deficiency hyperphenylalaninemia, BH4-deficient C hyperphenylalaninemia, Bh4-deficient, type C phenylketonuria type 2 DHPR deficiency HPABH4C Qdpr deficiency hyperphenylalaninemia, BH-4-deficient, C hyperphenylalaninemia, BH4-deficient, C hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to DHPR deficiency quinoid dihydropteridine reductase deficiency dihydropteridine reductase deficiency https://rarediseases.info.nih.gov/diseases/4319/dihydropteridine-reductase-deficiency MONDO:0009863 An autosomal recessive condition caused by mutation(s) in the PTS gene, encoding 6-pyruvoyl tetrahydrobiopterin synthase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits. 6-pyruvoyl tetrahydropterin synthase deficiency 6-pyruvoyl-tetrahydropterin synthase deficiency BH4-deficient hyperphenylalaninemia A Bh4-deficient hyperphenylalaninemia type A HPABH4A PTS deficiency hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency hyperphenylalaninemia, BH4-deficient A hyperphenylalaninemia, Bh4-deficient, type a tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency PTS deficiency hyperphenylalaninemia, BH4-deficient, due to partial PTS deficiency, included hyperphenylalanemia, BH4-deficient, A hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency hyperphenylalaninemia, BH4-deficient, A hyperphenylalaninemia, BH4-deficient, type A hyperphenylalaninemia, Bh4-deficient, due to partial PTS deficiency hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to PTS deficiency BH4-deficient hyperphenylalaninemia A MONDO:0009864 https://github.com/monarch-initiative/mondo/issues/4521 PEPCK deficiency, mitochondrial phosphoenolpyruvate carboxykinase deficiency, mitochondrial PCK2 deficiency PCKDM PEPCK 2 deficiency PEPCK2 PEPCK2 deficiency phosphoenolpyruvate carboxykinase 2 deficiency phosphoenolpyruvate carboxykinase deficiency, mitochondrial MONDO:0009865 A rare, autosomal recessive, inherited disorder caused by mutation of the PGAM2 gene. It is characterized by non-spherocytic hemolytic anemia, exercise-induced cramping, myoglobinuria, and presence of tubular aggregates on muscle biopsy. https://github.com/monarch-initiative/mondo/issues/4985 GSD due to phosphoglycerate mutase deficiency GSD type 10 PGAM2 glycogen storage disease glycogen storage disease caused by mutation in PGAM2 glycogen storage disease type 10 glycogenosis due to phosphoglycerate mutase deficiency muscle phosphoglycerate mutase deficiency myopathy due to phosphoglycerate mutase deficiency GSD 10 GSD10 GSDX PGAM deficiency PGAMM deficiency Phosphoglycerate mutase deficiency Phosphoglycerate mutase, muscle, deficiency of glycogen storage disease 10 glycogen storage disease X myopathy due to Phosphoglycerate mutase deficiency glycogen storage disease due to phosphoglycerate mutase deficiency MONDO:0009866 PEPCK1 deficiency is a rare inborn error of metabolism disorder, characterized by the deficiency of the enzyme PEPCK1, one of the enzymes needed for gluconeogenesis, the process by which organisms produce sugars (namely glucose) from non-carbohydrate precursors (such as amino acids). The symptoms described in the few cases reported in the medical literature suggest that there may be variation in the severity of the symptoms ranging from severe early-onset cases, to milder late-onset presentations. In severe cases symptoms may include persistent and very low levels of blood's sugar in newborns (neonatal hypoglycemia), failure to thrive, build-up of lactic acid in the blood (lactic acidosis), liver enlargement (hepatomegaly) and liver failure leading to neurological degeneration. Milder cases present during childhood with fewer and less serious liver problems. Infections and fasting may trigger the symptoms. PEPCK1 deficiency inheritance is autosomal recessive. It is caused by mutations in the PEPCK1 gene. Some researchers believe that the severity of the disease depend upon the mutations resulting in less or more PEPCK1 activity (the more active the enzyme is, the less severe the disease is, and vice versa). Treatment depend on the symptoms and may include giving extra carbohydrates during heavy exercise and illness or other times of fasting (formal sick day regimen) by the dietitian.PEPCK1 is the cytosolic form of the phosphoenolpyruvate carboxykinase (PEPCK) enzyme, the other being the mitochondrial (PEPCK2). phosphoenolpyruvate carboxykinase deficiency, cytosolic PCK1 deficiency, cytosolic PCKDC PEP carboxykinase deficiency PEPCK 1 deficiency PEPCK deficiency, cytosolic PEPCK1 deficiency phosphoenolpyruvate carboxykinase deficiency phosphoenolpyruvate carboxykinase-1 (PCK1) deficiency phosphoenolpyruvate carboxylase deficiency phosphopyruvate carboxylase deficiency phosphoenolpyruvate carboxykinase deficiency, cytosolic MONDO:0009867 Any glycogen storage disease in which the cause of the disease is a mutation in the PRKAG2 gene. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4985 PRKAG2 glycogen storage disease fatal congenital hypertrophic cardiomyopathy due to GSD fatal congenital hypertrophic cardiomyopathy due to glycogenosis fatal congenital nonlysosomal cardiac glycogenosis glycogen storage disease caused by mutation in PRKAG2 phosphorylase kinase deficiency of heart fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease glycogen storage disease of heart glycogen storage disease of heart, lethal congenital lethal congenital glycogen storage disease of heart MONDO:0009868 Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency. https://github.com/monarch-initiative/mondo/issues/4985 GSD IXb GSD due to liver and muscle phosphorylase kinase deficiency GSD type 9B GSD type IXb GSD9B PHKB glycogen storage disease PHKB-related glycogen storage disease type IX glycogen storage disease IXb glycogen storage disease caused by mutation in PHKB glycogen storage disease type 9B glycogen storage disease type IXb glycogenosis due to liver and muscle phosphorylase kinase deficiency glycogenosis type 9B glycogenosis type IXb glycogen storage disease due to liver and muscle phosphorylase kinase deficiency glycogenosis of liver and muscle, autosomal recessive phosphorylase kinase deficiency of liver and muscle, autosomal recessive glycogen storage disease IXb MONDO:0009869 Pierre-Robin syndrome (or Pierre-Robin sequence) is characterised by triad of orofacial morphological anomalies consisting of retrognathism, glossoptosis and a posterior median velopalatal cleft. isolated Pierre Robin sequence isolated Pierre-Robin syndrome PRBNS Pierre Robin sequence Pierre Robin syndrome Pierre Robin syndrome skeletal dysplasia polydactyly Pierre Robin's sequence Pierre Robins sequence Pierre-Robin syndrome Robin sequence Robin syndrome, Pierre glossoptosis, micrognathia, and cleft palate isolated Pierre Robin syndrome sequence, Pierre Robin sequence, Pierre Robin's sequence, Robin syndrome, Pierre Robin syndrome, Pierre-Robin isolated Pierre-Robin syndrome MONDO:0009870 Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome. pili torti (disease) pili torti pili torti (disease) twisted hair coarse, dry, lusterless hair which breaks off easily pili torti, Ronchese type pili torti, early-onset pili torti MONDO:0009871 Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents. https://github.com/monarch-initiative/mondo/issues/4521 abnormal hair, joint laxity, and developmental delay pili torti and developmental delay pili torti developmental delay neurological abnormalities pili torti-developmental delay-neurological abnormalities syndrome MONDO:0009872 Bjrnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti. Less than fifty cases have been reported so far. The hearing loss usually becomes evident very early in life, often in the first year. Pili torti, a condition in which the hair shaft is flattened and twisted, makes the hair very brittle and patients develop hair loss in the first two years of life. Bjrnstad syndrome is transmitted as an autosomal recessive condition. It is caused by mutations in the BCS1L gene. Mutations in this gene also cause GRACILE syndrome. Bjornstad syndrome deafness-pili torti-hypogonadism syndrome BJS BJörnstad syndrome PTD PTND deafness and pili torti, Bjornstad type pili torti and nerve deafness pili torti-sensorineural hearing loss Bjornstad syndrome https://rarediseases.info.nih.gov/diseases/22/bjornstad-syndrome MONDO:0009873 Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985. Euhidrotic ectodermal dysplasia Kopysc-Barczyk-Krol syndrome PILODENTAL dysplasia with refractive errors Trichodental dysplasia with hyperopia pilodental dysplasia-refractive errors syndrome MONDO:0009874 Rabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes). https://github.com/monarch-initiative/mondo/issues/5723 Rabson-Mendenhall syndrome Mendenhall syndrome pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities Rabson-Mendenhall syndrome https://rarediseases.info.nih.gov/diseases/226/rabson-mendenhall-syndrome MONDO:0009875 Any achromatopsia in which the cause of the disease is a mutation in the CNGB3 gene. ACHM1 ACHM3 CNGB3 achromatopsia RMCH1 achromatopsia 3 achromatopsia caused by mutation in CNGB3 achromatopsia type 3 rod monochromacy 1 rod monochromatism 1 ACHM1 (formerly) ACHM1, formerly RMCH1 (formerly) Rod monochromacy 1 (formerly) Rod monochromatism 1 (formerly) achromatopsia with myopia rod monochromacy 1, formerly rod monochromatism 1, formerly total colorblindness with myopia achromatopsia 3 MONDO:0009876 An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has material basis in null mutations in the GH1 gene on chromosome 17q23.3. https://github.com/monarch-initiative/mondo/issues/4521 IGHD IA Illig-type growth hormone deficiency autosomal recessive isolated growth hormone deficiency congenital IGHD type IA congenital isolated GH deficiency type IA congenital isolated growth hormone deficiency type IA growth hormone deficiency, isolated, type IA isolated growth hormone deficiency type IA pituitary dwarfism I primordial dwarfism sexual ateleiotic dwarfism Growth hormone deficiency, isolated autosomal recessive Growth hormone deficiency, isolated, autosomal recessive IGHD 1A IGHD1A ILLIG type growth hormone deficiency Illig-type Growth hormone deficiency congenital IGHD congenital isolated GH deficiency congenital isolated growth hormone deficiency isolated Growth hormone deficiency, type 1A isolated growth hormone deficiency type 1A isolated growth hormone deficiency, type IA non-acquired isolated growth hormone deficiency pituitary dwarfism 1 isolated growth hormone deficiency type IA https://rarediseases.info.nih.gov/diseases/7399/isolated-growth-hormone-deficiency-type-1a MONDO:0009877 Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration. GH receptor deficiency Growth hormone receptor deficiency Laron syndrome Laron-type dwarfism Laron-type isolated somatotropin defect complete growth hormone insensitivity primary GH insensitivity primary GH resistance primary growth hormone insensitivity primary growth hormone resistance short stature due to growth hormone resistance Laron dwarfism Laron type pituitary dwarfism I growth hormone insensitivity syndrome pituitary dwarfism 2 pituitary dwarfism II Laron syndrome MONDO:0009878 Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the PROP1 gene. PROP1 combined pituitary hormone deficiencies, genetic form combined pituitary hormone deficiencies, genetic form caused by mutation in PROP1 pituitary hormone deficiency, combined, 2 pituitary hormone deficiency, combined, type 2 CPHD2 Hanhart dwarfism ateliotic dwarfism with hypogonadism panhypopituitarism pituitary dwarfism 3 pituitary hormone deficiency, combined, 2 MONDO:0009879 Short stature due to growth hormone qualitative anomaly is characterised by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive. Kowarski syndrome Biodefective Growth hormone KOWARSKI syndrome pituitary dwarfism with normal immunoreactive Growth hormone and Low Somatomedin short stature due to growth hormone qualitative anomaly MONDO:0009880 Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterised by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25). pituitary hormone deficiency, combined, type 4 CPHD4 pituitary hormone deficiency, combined 4 pituitary hormone deficiency, combined with or without cerebellar defects pituitary hormone deficiency, combined, 4 pituitary hormone deficiency, combined, with or without cerebellar defects short stature, pituitary and cerebellar defects and small sella turcica short stature, pituitary and cerebellar defects, and small sella turcica short stature-pituitary and cerebellar defects-small sella turcica syndrome MONDO:0009881 pituitary dwarfism with large sella turcica pituitary dwarfism with large sella turcica https://rarediseases.info.nih.gov/diseases/10607/pituitary-dwarfism-with-large-sella-turcica MONDO:0009882 plasma clot retraction factor, deficiency of plasma clot retraction factor, deficiency of MONDO:0009883 Congenital alpha2 antiplasmin deficiency is a rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones). Congenital alpha2 antiplasmin deficiency is inherited in an autosomal recessive manner. alpha-2-plasmin inhibitor deficiency antiplasmin defiency plasmin inhibitor deficiency anti-plasmin deficiency, congenital antiplasmin deficiency antiplasmin deficiency, congenital congenital alpha2-antiplasmin deficiency alpha-2-plasmin inhibitor deficiency MONDO:0009884 platelet prostacyclin receptor defect Vienna-Hietzing defect platelet prostacyclin receptor defect MONDO:0009885 Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity. BDPLT7 SCTS Scott syndrome bleeding abnormality due to deficiency of platelet biding of factor X familial prothrombin consumption inhibitor familial prothrombin conversion defect platelet-type bleeding disorder 7 prothrombin consumption deficiency Platelet factor X receptor deficiency bleeding Abnormality due to deficiency of Platelet binding of Factor 10 bleeding disorder, Platelet-type, 7 prothrombin consumption inhibitor, familial prothrombin conversion defect, familial Scott syndrome https://rarediseases.info.nih.gov/diseases/4777/scott-syndrome MONDO:0009886 pleoconial myopathy with salt craving pleoconial myopathy with salt craving https://rarediseases.info.nih.gov/diseases/10318/pleoconial-myopathy-with-salt-craving MONDO:0009887 A rare idiopathic interstitial pneumonia characterized by accumulation of macrophages in alveolar spaces and interstitial inflammation. It usually occurs in smokers. Some patients develop progressive interstitial lung fibrosis. RBILD desquamative interstitial pneumonia familial desquamative interstitial pneumonitis respiratory bronchiolitis interstitial lung disease respiratory bronchiolitis-associated interstitial lung disease DIP ILD, desquamative interstitial lung disease, desquamative interstitial pneumonitis, desquamative, familial pneumonia, desquamative interstitial, familial pneumonitis, desquamative interstitial, familial desquamative interstitial pneumonia MONDO:0009888 https://github.com/monarch-initiative/mondo/issues/4069 polycystic kidney, cataract, and congenital blindness polycystic kidney, cataract, and congenital blindness MONDO:0009889 An inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement. AR-PKD ARPKD autosomal recessive polycystic kidney polycystic kidney disease, autosomal recessive polycystic kidney disease, infantile type polycystic kidney and hepatic disease 1 polycystic kidney disease, infantile, type I PKHD1 autosomal recessive polycystic kidney disease MONDO:0009890 Gillessen-Kaesbach-Nishimura syndrome GIKANIS polycystic kidney disease, Potter type I, with microbrachycephaly, hypertelorism, and brachymelia polycystic kidney disease, autosomal recessive, with microbrachycephaly, hypertelorism, and brachymelia Gillessen-Kaesbach-Nishimura syndrome MONDO:0009891 Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production. https://github.com/monarch-initiative/mondo/issues/4521 Osler-Vaquez disease Osler-Vaquez syndrome PV Vaquez disease acquired primary erythrocytosis polycythaemia rubra vera polycythemia rubra vera polycythemia vera polycythemia vera, somatic proliferative polycythaemia PRV primary polycythemia acquired polycythemia vera MONDO:0009892 Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death. Chuvash erythromatosis Chuvash polycythemia Chuvash type polycythemia VHL familial polycythemia Von Hippel-Lindau-dependent polycythemia autosomal recessive benign erythrocytosis erythrocytosis, familial, type 2 familial erythrocytosis 2 familial polycythemia caused by mutation in VHL Chuvash erythrocytosis ECYT2 erythrocytosis, autosomal recessive benign erythrocytosis, familial, 2 polycythemia, Chuvash type polycythemia, VHL-dependent Chuvash polycythemia MONDO:0009893 polydactyly, postaxial, type A5 PAPA5 polydactyly, postaxial, type A5 MONDO:0009894 A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia. https://github.com/monarch-initiative/mondo/issues/4948 Majewski syndrome SRPS2A SRTD6 polydactyly with neonatal chondrodystrophy type II polydactyly with neonatal chondrodystrophy, type II short rib-polydactyly syndrome type II short rib-polydactyly syndrome type IIA short-rib thoracic dysplasia 6 with or without polydactyly Srps, type 2 polydactyly with neonatal chondrodystrophy, type 2 short rib-polydactyly syndrome, type 2 short rib-polydactyly syndrome, type 2A short-rib thoracic dysplasia 6 with or without polydactyly MONDO:0009895 Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977. polydactyly, postaxial, with dental and vertebral anomalies postaxial polydactyly-dental and vertebral anomalies syndrome MONDO:0009896 polymyoclonus, infantile polymyoclonus, infantile MONDO:0009897 Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia. https://github.com/monarch-initiative/mondo/issues/4985 APBD APBN polyglucosan body disease, adult polyglucosan body disease, adult form polyglucosan body neuropathy, adult form adult polyglucosan body disease https://rarediseases.info.nih.gov/diseases/108/polyglucosan-body-disease-adult MONDO:0009898 polysaccharide, storage of unusual polysaccharide, storage of unusual MONDO:0009899 polyhydramnios, chronic idiopathic Lactogen receptor defect of chorion polyhydramnios, chronic idiopathic MONDO:0009900 Polysyndactyly-cardiac malformation syndrome is characterized by polysyndactyly, hexadactyly (duplication of the first toe) and complex cardiac malformation (including atrial and ventricular septal defect, single ventricle, aortic dextroposition, or dilation of the right heart). It has been described in six patients from three unrelated families. Other manifestations were present in some patients (i.e. facial dysmorphism, hepatic cysts). Bonneau syndrome polysyndactyly cardiac malformation polysyndactyly with CARDIAC malformation polysyndactyly-cardiac malformation syndrome MONDO:0009901 Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported. https://github.com/monarch-initiative/mondo/issues/4521 Bartsocas-Papas syndrome autosomal recessive popliteal pterygium syndrome lethal popliteal pterygium syndrome popliteal pterygium syndrome, Bartsocas-Papas type 1 BPS Bartsocas Papas syndrome multiple pterygium syndrome, Aslan type popliteal pterygium syndrome lethal type popliteal pterygium syndrome, Bartsocas-Papas type popliteal pterygium syndrome, lethal type pterygium popliteal lethal type pterygium, popliteal, lethal type Bartsocas-Papas syndrome MONDO:0009902 Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis. CEP Günther disease cutaneous porphyria erythropoietic porphyria Cep Gunther disease Uros deficiency congenital erythropoietic porphyria congenital porphyria porphyria, congenital erythropoietic uroporphyrinogen 3 synthase deficiency uroporphyrinogen III synthase, deficiency of cutaneous porphyria MONDO:0009903 Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia. https://github.com/monarch-initiative/mondo/issues/4948 Mandibulfacial dysostosis with postaxial limb anomalies Miller syndrome POADS acrofacial dysostosis, Genee-Wiedmann type postaxial acrodysostosis postaxial acrofacial dysostosis GWAFD Genee-Wiedemann acrofacial dysostosis Genee-Wiedemann syndrome POADS syndrome Wildervanck-Smith syndrome postaxial acrofacial dysostosis (POADS) syndrome postaxial acrofacial dysostosis MONDO:0009904 Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. Gitelman syndrome hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria primary renal tubular hypokalemic hypomagnesemia with hypocalciuria GTLMNS Gitelman's syndrome Potassium and magnesium depletion familial hypokalemia-hypomagnesemia Gitelman syndrome https://rarediseases.info.nih.gov/diseases/8547/gitelman-syndrome MONDO:0009905 This syndrome is characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity. https://github.com/monarch-initiative/mondo/issues/5588 Prader-Willi habitus-osteopenia-camptodactyly syndrome intellectual disability-short stature-hand contractures-genital anomalies syndrome urban-Rogers-Meyer syndrome Prader-Willi habitus, osteopenia, and camptodactyly urban-Rogers-Meyer syndrome MONDO:0009906 prenatal bowing prenatal bowing MONDO:0009907 Prepapillary vascular loops preretinal vascular loops Prepapillary vascular loops MONDO:0009908 Pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1) deficiency is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency, characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. PCBD1 is inherited in an autosomal recessive manner. CADH deficiency PCBD deficiency PCBD1 deficiency PCD deficiency dehydratase deficiency hyperphenylalaninemia due to dehydratase deficiency hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency hyperphenylalaninemia with primapterinuria hyperphenylalaninemia, Bh4-deficient, type D pterin-4 alpha-carbinolamine dehydratase 1 deficiency HPABH4D hyperphenylalaninemia, BH4-deficient, D hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-Alpha-carbinolamine dehydratase deficiency pterin-4 alpha-carbinolamine dehydratase deficiency tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency This was previously labeled dehydratase deficiency, but based on expert recommendations, the label "dehydratase deficiency" is inappropriate for this entity as it is not unique. PCBD1 encodes a dehydratase, however, the previous label could cause confusion over which dehydratase is deficient in the proband. pterin-4 alpha-carbinolamine dehydratase 1 deficiency MONDO:0009909 progesterone resistance pseudocorpus luteum insufficiency progesterone resistance MONDO:0009910 Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism. https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5588 Wiedemann-Rautenstrauch syndrome neonatal progeroid syndrome Wiedemann Rautenstrauch syndrome progeroid syndrome neonatal progeroid syndrome, neonatal Wiedemann-Rautenstrauch syndrome MONDO:0009911 prolactin deficiency, isolated prolactin deficiency, isolated MONDO:0009912 prolactin deficiency with obesity and enlarged testes PRL deficiency with obesity and enlarged testes prolactin deficiency with obesity and enlarged testes MONDO:0009913 prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness prune belly syndrome with pulmonic stenosis, mental retardation, and deafness prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness MONDO:0009914 Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy. https://github.com/monarch-initiative/mondo/issues/4948 pseudodiastrophic dysplasia Pseudodiastrophic dwarfism pseudodiastrophic dysplasia https://rarediseases.info.nih.gov/diseases/9463/pseudodiastrophic-dysplasia MONDO:0009915 female pseudohermaphroditism-skeletal anomalies syndrome pseudohermaphroditism, female, with skeletal anomalies 46,XX disorder of sex development-skeletal anomalies syndrome MONDO:0009916 Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production. 17 Beta HSD3 deficiency 17 beta HSD3 deficiency 17-beta-hydroxysteroid dehydrogenase 3 deficiency 17-ketoreductase deficiency 17-ketosteroidreductase deficiency 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency 17 alpha KSR deficiency 17 alpha ketosteroid reductase deficiency of testis 17 beta hydroxysteroid dehydrogenase III deficiency 17-BETA hydroxysteroid dehydrogenase III deficiency 17-Beta hydroxysteroid dehydrogenase 3 deficiency 17-KSR deficiency 17-beta hydroxysteroid dehydrogenase 3 deficiency 17-ketosteroid reductase deficiency of testis Male pseudoherma-phroditism with gynecomastia neutral 17 beta hydroxysteroid oxidoreductase deficiency neutral 17-Beta-hydroxysteroid oxidoreductase deficiency polycystic ovarian disease due to 17-ketosteroid reductase deficiency polycystic ovary syndrome due to 17-ketosteroid reductase deficiency pseudohermaphroditism, Male, with gynecomastia 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency MONDO:0009917 Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs. PHA1B autosomal recessive PHA 1 autosomal recessive pseudohypoaldosteronism type 1 PHA I, autosomal recessive generalized PHA1 generalized pseudohypoaldosteronism type 1 pseudohypoaldosteronism type 1 autosomal recessive pseudohypoaldosteronism type 1, recessive pseudohypoaldosteronism, type I, autosomal recessive autosomal recessive pseudohypoaldosteronism type 1 https://rarediseases.info.nih.gov/diseases/4552/autosomal-recessive-pseudohypoaldosteronism-type-1 MONDO:0009918 fundus dystrophy, pseudoinflammatory, recessive form PFD Lavia type Pfd, Finnish type Pfd, Lavia type fundus dystrophy, pseudoinflammatory recessive form pseudoinflammatory fundus dystrophy fundus dystrophy, pseudoinflammatory, recessive form MONDO:0009919 Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy. https://github.com/monarch-initiative/mondo/issues/2632 ACOX1 deficiency Pseudoadrenoleukodystrophy peroxisomal acyl-CoA oxidase deficiency peroxisomal acyl-coenzyme A oxidase pseudo-NALD pseudo-neonatal adrenoleukodystrophy Pseudoneonatal adrenoleukodystrophy straight-chain acyl-Coa oxidase deficiency peroxisomal acyl-CoA oxidase deficiency MONDO:0009920 Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies. acrootoocular syndrome pseudopapilledema-blepharophimosis-hand anomalies syndrome Aoo syndrome pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies Acrootoocular syndrome MONDO:0009921 Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13. https://github.com/monarch-initiative/mondo/issues/5588 pseudo-trisomy 13 syndrome PSEUDOTRISOMY 13 syndrome Young-Maders syndrome holoprosencephaly polydactyly syndrome holoprosencephaly-polydactyly syndrome pseudo trisomy 13 syndrome holoprosencephaly-postaxial polydactyly syndrome MONDO:0009922 Pseudouridinuria and mental defect Pseudouridinuria and mental defect MONDO:0009923 A rare disorder of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis. 3-oxo-5 Alpha-steroid Delta 4-dehydrogenase deficiency 46,XY DSD due to 5-alpha-reductase 2 deficiency 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency 5 Alpha steroid reductase 2 deficiency Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency pseudovaginal perineoscrotal hypospadias steroid 5-alpha-reductase deficiency 5-alpha reductase deficiency Male pseudohermaphroditism due to 5-Alpha-reductase deficiency PPSH familial incomplete Male pseudohermaphroditism, type 2 micropenis 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency MONDO:0009924 Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia. 1 Alpha-hydroxylase deficiency 1-alpha-hydroxylase deficiency PDDRI VDDI VDDR-I VDDR1 hypocalcemic vitamin D-dependent rickets pseudo vitamin-D deficient rickets pseudovitamin D-deficient rickets selective 1-alpha, 25-hydroxyvitamin D3 deficiency vitamin D 1 Alpha-Hydroxylase deficiency vitamin D dependent rickets type I vitamin D-dependency type I vitamin D-dependent rickets type 1 vitamin D dependency, type 1 vitamin D-dependent rickets, type 1 MONDO:0009925 An autosomal recessive form of PXE. AR inherited pseudoxanthoma elasticum Gronblad-Strandberg syndrome Gronblad-Strandberg-Touraine syndrome PXE Gronblad Strandberg syndrome PXE, modifier of severity of pseudoxanthoma elasticum pseudoxanthoma elasticum, modifier of severity of autosomal recessive inherited pseudoxanthoma elasticum https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum MONDO:0009926 A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant. EVMPS Escobar syndrome Escobar variant multiple pterygium syndrome autosomal recessive multiple pterygium syndrome autosomal recessive non-lethal multiple pterygium syndrome multiple pterygium syndrome, autosomal recessive multiple pterygium syndrome multiple pterygium syndrome Escobar type multiple pterygium syndrome nonlethal type multiple pterygium syndrome, ESCOBAR variant multiple pterygium syndrome, Nonlethal type pterygium Universale pterygium colli syndrome pterygium syndrome pterygium universale autosomal recessive multiple pterygium syndrome https://rarediseases.info.nih.gov/diseases/7111/multiple-pterygium-syndrome-escobar-type MONDO:0009927 Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene. 3MC syndrome 2 3MC syndrome caused by mutation in COLEC11 3MC syndrome type 2 3Mc syndrome type 2 COLEC11 3MC syndrome 3MC2 Carnevale syndrome Carnevale syndrome, formerly Osa syndrome oculo-skeletal-abdominal syndrome ptosis of eyelids with diastasis recti and hip dysplasia 3MC syndrome 2 MONDO:0009928 Pulmonary alveolar microlithiasis is a disorder in which tiny fragments (microliths) of calcium phosphate gradually accumulate in the small air sacs (alveoli) of the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease). People with this disorder may also develop a persistent cough and difficulty breathing (dyspnea), especially during physical exertion. Chest pain that worsens when coughing, sneezing, or taking deep breaths is another common feature. People with pulmonary alveolar microlithiasismay also develop calcium phosphate deposits in other organs and tissue of the body. Though the course of the disease can be variable,many casesslowly progress to lung fibrosis, respiratory failure, or cor pulmonale. The only effective therapy is lung transplantation. In some cases, pulmonary alveolar microlithiasis is caused by mutations in the SLC34A2 gene and inherited in an autosomal recessive manner. pulmonary alveolar microlithiasis pulmonary alveolar microlithiasis https://rarediseases.info.nih.gov/diseases/11894/pulmonary-alveolar-microlithiasis MONDO:0009929 SMDP1 interstitial lung disease due to surfactant Protein B deficiency neonatal acute respiratory distress due to surfactant protein B deficiency pulmonary alveolar proteinosis, congenital, 1 surfactant metabolism dysfunction, pulmonary, 1 surfactant metabolism dysfunction, pulmonary, type 1 interstitial lung disease, nonspecific, due to surfactant Protein B deficiency pulmonary surfactant protein B, deficiency of neonatal acute respiratory distress due to SP-B deficiency MONDO:0009931 Pulmonary atresia with intact ventricular septum (PA-IVS) is a rare form of cyanotic congenital heart malformation characterized by severe cyanosis and tachypnea. PA-IVS presents significant morphologic diversity: at the end of the spectrum are patients with a mildly hypoplastic and tripartite right ventricle (RV) and mild tricuspid valve (TV) hypoplasia, and at the other end are patients with severe RV and TV hypoplasia, often with RV-dependent coronary circulation. pulmonary valve atresia with intact ventricular septum pulmonary atresia with intact ventricular septum pulmonary atresia-intact ventricular septum syndrome MONDO:0009932 pulmonary bullae causing pneumothorax pulmonary bullae causing pneumothorax MONDO:0009933 Congenital pulmonary lymphangiectasia (PL) is a rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation. https://github.com/monarch-initiative/mondo/issues/4069 congenital pulmonary lymphangiectasis pulmonary lymphangiomatosis CPL lymphangiectasia pulmonary congenital lymphangiectasia, pulmonary, congenital lymphangiomatosis pulmonary lymphangiomatosis, pulmonary pulmonary cystic lymphangiectasis congenital pulmonary lymphangiectasia https://rarediseases.info.nih.gov/diseases/9900/congenital-pulmonary-lymphangiectasia MONDO:0009934 A rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension. https://github.com/monarch-initiative/mondo/issues/5537 ACDMPV alveolar capillary dysplasia alveolar capillary dysplasia with misalignment of pulmonary veins alveolar capillary dysplasia with misalignment of pulmonary vessels congenital alveolar capillary dysplasia congenital alveolar capillary dysplasia with misalignment of pulmonary veins fetal circulation alveolar capillary dysplasia with misalignment of pulmonary veins and Other congenital anomalies alveolar capillary dysplasia with misalignment of pulmonary veins and other congenital anomalies alveolar capillary dysplasia with pulmonary venous misalignment familial persistent pulmonary hypertension of the newborn persistent fetal circulation persistent pulmonary hypertension of the newborn pulmonary hypertension, familial persistent of the newborn Editor note: MESH and NCIT split this, see NCIT:C98809 alveolar capillary dysplasia with misalignment of pulmonary veins https://rarediseases.info.nih.gov/diseases/8644/alveolar-capillary-dysplasia MONDO:0009935 pulmonary hypertension, primary, autosomal recessive pulmonary hypertension, primary, autosomal recessive MONDO:0009936 Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congential malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life. lung agenesis primary pulmonary hypoplasia pulmonary hypoplasia, primary familial primary pulmonary hypoplasia MONDO:0009937 A disorder characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension. PVOD pulmonary capillary hemangiomatosis pulmonary veno-occlusive disease obstructive disease of the pulmonary veins pulmonary venoocclusive disease https://rarediseases.info.nih.gov/diseases/10153/pulmonary-venoocclusive-disease MONDO:0009938 pulmonic stenosis (disease) pulmonary stenosis pulmonic stenosis pulmonic stenosis (disease) valvular pulmonic stenosis pulmonic stenosis MONDO:0009939 pulmonic stenosis and congenital nephrosis pulmonic stenosis and congenital nephrosis MONDO:0009940 Pycnodysostosis is a genetic lysosomal disease characterized by short stature, increased density of the bones (osteosclerosis/osteopetrosis), and brittle bones. Other features may include underdevelopment of the tips of the fingers with absent or small nails, an abnormal collarbone (clavicle), distinctive facial features including a large head with a small face and chin, underdeveloped facial bones, a high forehead, and dental abnormalities.Pycnodysostosis is an autosomal recessive condition caused by mutations in the gene that codes the enzyme cathepsin K (CTSK) on chromosome 1q21. The diagnosis of pycnodysostosis is based on physical features and X-ray findings. Molecular genetic testing is available. Treatment should address the symptoms found in each patient and may include orthopedic monitoring, treatment of fractures, appropriate dental care, and craniofacial surgery. https://github.com/monarch-initiative/mondo/issues/4948 Pyknodysostosis pycnodysostosis PKND Pycd pycnodysostosis https://rarediseases.info.nih.gov/diseases/4611/pycnodysostosis MONDO:0009941 Pygmy Pygmy, African Pygmy MONDO:0009942 Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis. camera syndrome pyknoachondrogenesis association of skeletal defects resembling achondrogenesis with generalized bone sclerosis pyknoachondrogenesis https://rarediseases.info.nih.gov/diseases/4610/pyknoachondrogenesis MONDO:0009943 A bone dysplasia characterised by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning. https://github.com/monarch-initiative/mondo/issues/4948 metaphyseal dysplasia Bakwin-Krida syndrome Pyle disease Pyle's disease Pyle's syndrome Pyle-Cohn syndrome chondrodysplasia calcificans metaphysealis metaphyseal dysplasia, Pyle type Pyl metaphyseal dysplasia Pyle type Pyle disease MONDO:0009944 pyloric atresia pyloric atresia MONDO:0009945 A rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6). https://github.com/monarch-initiative/mondo/pull/2571/ antiquitin deficiency pyridoxine-dependent epilepsy vitamin B6-dependent seizures AASA dehydrogenase deficiency EPD Epd epilepsy, pyridoxine-dependent pyridoxine dependency pyridoxine dependency with seizures pyridoxine-dependent epilepsy https://rarediseases.info.nih.gov/diseases/9298/pyridoxine-dependent-epilepsy MONDO:0009946 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported. https://github.com/monarch-initiative/mondo/issues/4521 P5N deficiency UMPH1 deficiency anemia, hemolytic, due to UMPH1 deficiency uridine 5'-monophosphate hydrolase deficiency Umph1 deficiency hemolytic Anemia due to P5N deficiency hemolytic Anemia due to Umph1 deficiency pyrimidine 5-prime Nucleotidase deficiency, hemolytic Anemia due to uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to hemolytic anemia due to pyrimidine 5' nucleotidase deficiency MONDO:0009947 https://github.com/monarch-initiative/mondo/issues/4985 5-oxoprolinuria GSSD glutathione synthetase deficiency pyroglutamic aciduria glutathione synthetase deficiency with 5-oxoprolinuria MONDO:0009948 An autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency. https://github.com/monarch-initiative/mondo/issues/4521 pyropoikilocytosis pyropoikilocytosis, hereditary HPP hereditary pyropoikilocytosis pyropoikilocytosis hereditary pyropoikilocytosis, hereditary https://rarediseases.info.nih.gov/diseases/4619/pyropoikilocytosis-hereditary MONDO:0009949 Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients. https://github.com/monarch-initiative/mondo/issues/4985 Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency Leigh syndrome due to PC deficiency Leigh syndrome due to pyruvate carboxylase deficiency ataxia with lactic acidosis type 2 ataxia with lactic acidosis type II deficiency of pyruvic carboxylase pyruvate carboxylase deficiency disease Pc deficiency ataxia with lactic acidosis 2 pyruvate carboxylase deficiency pyruvate carboxylase deficiency disease MONDO:0009950 Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia. https://github.com/monarch-initiative/mondo/issues/4985 PK deficiency hemolytic Anemia due to pyruvate Kinase deficiency hemolytic anemia due to red cell pyruvate kinase deficiency pyruvate kinase deficiency of erythrocyte pyruvate kinase deficiency of erythrocytes pyruvate kinase deficiency of red cells Pk deficiency pyruvate kinase deficiency pyruvate kinase deficiency of red cells MONDO:0009951 Radiculoneuropathy, fatal neonatal radiculoneuropathy, fatal neonatal MONDO:0009952 Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears). https://github.com/monarch-initiative/mondo/issues/5588 Der Kaloustian-McIntosh-Silver syndrome radioulnar synostosis with developmental delay and hypotonia syndrome der Kaloustian mcintosh silver syndrome radioulnar synostosis, unilateral, with developintellectual disability and hypotonia radioulnar synostosis, unilateral, with developmental retardation and hypotonia unilateral radio-ulnar synostosis, generalized hypotonia, developintellectual disability, and a characteristic facial appearance unilateral radio-ulnar synostosis, generalized hypotonia, developmental retardation, and a characteristic facial appearance radioulnar synostosis-developmental delay-hypotonia syndrome https://rarediseases.info.nih.gov/diseases/1810/der-kaloustian-mcintosh-silver-syndrome MONDO:0009953 Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit. CDG IIc CDG syndrome type IIc CDG-IIc CDG2C CDGIIc LAD2 RHS Rambam-Hasharon syndrome SLC35C1-CDG lad-II lad-type II leukocyte adhesion deficiency type 2 leukocyte adhesion deficiency type II leukocyte adhesion deficiency, type II sialyl-Lewis X defect CDG 2C SLC35C1-CDG (CDG-IIc) congenital disorder of glycosylation type IIC congenital disorder of glycosylation, type IIc leukocyte adhesion deficiency, type 2 leukocyte adhesion deficiency type II MONDO:0009954 https://github.com/monarch-initiative/mondo/issues/4948 Ramon syndrome cherubism-gingival fibromatosis-intellectual disability syndrome cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted Growth gingival fibromatosis combined with cherubism Ramon syndrome https://rarediseases.info.nih.gov/diseases/7523/ramon-syndrome MONDO:0009955 RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence. https://github.com/monarch-initiative/mondo/issues/4948 rapadilino syndrome absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate radial and patellar aplasia radial and patellar hypoplasia rapadilino syndrome https://rarediseases.info.nih.gov/diseases/4637/rapadilino-syndrome MONDO:0009956 red skin pigment anomaly of new guinea Red skin pigment, New Guinea type red skin pigment anomaly of new guinea https://rarediseases.info.nih.gov/diseases/9757/red-skin-pigment-anomaly-of-new-guinea MONDO:0009957 Reese retinal dysplasia Reese retinal dysplasia https://rarediseases.info.nih.gov/diseases/10566/reese-retinal-dysplasia MONDO:0009958 A very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues. HMSN 4 HMSN type IV HSMN IV Refsum disease Refsum disease, adult, 1 Refsum disease, classic Refsum's disease adult Refsum disease adult Refsum disease due to PHYH classic Refsum disease hereditary motor and sensory neuropathy 4 hereditary motor and sensory neuropathy type 4 hereditary sensory and motor neuropathy type 4 heredopathia atactica polyneuritiformis hypertrophic neuropathy of Refsum phytanic acid oxidase deficiency phytanic-CoA hydroxylase deficiency DOC 11 (phytanic acid type) RDPA Refsum disease with increased pipecolic acidemia disorder of cornification 11 (phytanic acid type) Curator note: do not confuse with Infantial Refsum, see https://omim.org/entry/266500 adult Refsum disease https://rarediseases.info.nih.gov/diseases/5691/refsum-disease MONDO:0009959 A genetic disorder characterized by abnormalities in the breakdown of phytanic acid. It results in accumulation of phytanic acid in the blood, brain and other tissues. Signs and symptoms include retinitis pigmentosa which may lead to blindness, hearing problems and deafness, hypotonia, ataxia, nystagmus, facial deformities, and mental and growth retardation. https://github.com/monarch-initiative/mondo/issues/2632 infantile phytanic acid storage disease peroxisome biogenesis disorder 3B peroxisome biogenesis disorder type 3B PBD3B infantile Refsum disease peroxisome biogenesis disorder type 3B MONDO:0009960 Any inflammatory bowel disease in which the cause of the disease is a mutation in the NOD2 gene. https://github.com/monarch-initiative/mondo/issues/4521 IBD1 NOD2 inflammatory bowel disease crohn disease-associated growth failure inflammatory bowel disease 1 inflammatory bowel disease 1, Crohn disease inflammatory bowel disease caused by mutation in NOD2 inflammatory bowel disease type 1 Crohn disease Crohn disease-associated Growth failure, susceptibility to inflammatory bowel disease (Crohn disease) 1 pediatric ulcerative colitis regional enteritis ulcerative colitis ulcerative colitis, pediatric inflammatory bowel disease 1 MONDO:0009961 renal and mullerian duct hypoplasia renal and mullerian duct hypoplasia MONDO:0009962 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP1 gene. https://github.com/monarch-initiative/mondo/issues/4521 NPHP1 Senior-Loken syndrome Senior-Loken syndrome 1 Senior-Loken syndrome caused by mutation in NPHP1 Senior-Loken syndrome type 1 senior-loken syndrome-1 Loken-Senior syndrome SENIOR-Loken syndrome 1 SLSN1 Senior-Loken syndrome juvenile nephronophthisis with Leber amaurosis renal dysplasia and retinal aplasia renal-retinal syndrome Senior-Loken syndrome 1 MONDO:0009963 Ulbright-Hodes syndrome is characterised by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive. https://github.com/monarch-initiative/mondo/issues/5588 renal dysplasia-limb defects syndrome renal dysplasia-mesomelia-radiohumeral fusion syndrome RL syndrome Ulbright Hodes syndrome renal dysplasia limb defects syndrome renal dysplasia, mesomelia, and radiohumeral fusion Ulbright-Hodes syndrome MONDO:0009964 An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13. https://github.com/monarch-initiative/mondo/issues/4948 Conorenal syndrome Mainzer Saldino syndrome Mainzer-Saldino syndrome SRTD9 Saldino-Mainzer syndrome renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome short-rib thoracic dysplasia 9 with or without polydactyly renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia short-rib thoracic dysplasia 9 with or without polydactyly MONDO:0009965 Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. Perlman syndrome nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome renal hamartomas, nephroblastomatosis and fetal gigantism PRLMNS nephroblastomatosis fetal ascites macrosomia and Wilms tumor nephroblastomatosis, fetal ascites, macrosomia, and Wilms tumor renal hamartomas, nephroblastomatosis, and fetal gigantism Perlman syndrome https://rarediseases.info.nih.gov/diseases/3936/perlman-syndrome MONDO:0009966 Goldston syndrome MKS7 Meckel syndrome type 7 Meckel-Gruber syndrome, type 7 Meckel-like syndrome type 1 NPHP3-related Meckel-like syndrome renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia Meckel syndrome 7 Meckel syndrome, type 7 renal-hepatic-pancreatic dysplasia with Dandy-Walker cyst NPHP3-related Meckel-like syndrome https://rarediseases.info.nih.gov/diseases/4665/dandy-walker-cyst-with-renal-hepatic-pancreatic-dysplasia MONDO:0009967 RTA, bicarbonate-wasting type RTA, dislocation type renal tubular acidosis 3 renal tubular acidosis III bicarbonate-wasting RTA renal tubular acidosis, distal, type 3 renal tubular acidosis 3 MONDO:0009968 https://github.com/monarch-initiative/mondo/issues/4521 distal renal tubular acidosis 2 with progressive sensorineural hearing loss distal renal tubular acidosis co-occurrent with sensorineural deafness renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss renal tubular acidosis, distal, with progressive nerve deafness AR dRTA with hearing loss AR dRTA wth deafness RTA with progressive nerve deafness autosomal recessive distal renal tubular acidosis with deafness autosomal recessive distal renal tubular acidosis with hearing loss renal tubular acidosis progressive nerve deafness renal tubular acidosis type 1b renal tubular acidosis with deafness renal tubular acidosis with progressive nerve deafness renal tubular acidosis, autosomal recessive, with progressive nerve deafness renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss MONDO:0009969 renal genital middle ear anomalies renal, genital, and middle EAR anomalies renal-genital-middle ear anomalies https://rarediseases.info.nih.gov/diseases/4664/renal-genital-middle-ear-anomalies MONDO:0009970 An instance of renal tubular dysgenesis that is caused by a modification of the individual's genome. genetic renal tubular dysgenesis renal tubular dysgenesis of genetic origin RTD primitive renal tubule syndrome renal tubular dysgenesis renal tubular dysgenesis with choanal atresia and athelia renal tubular dysgenesis of genetic origin MONDO:0009971 Infant acute respiratory distress syndrome is a lung disorder that affects premature infants caused by developmental insufficiency of surfactant production and structural immaturity of the lungs. The symptoms usually appear shortly after birth and may include tachypnea, tachycardia, chest wall retractions (recession), expiratory grunting, nasal flaring and cyanosis during breathing efforts. https://github.com/monarch-initiative/mondo/issues/5005 RDS respiratory distress syndrome RDS of prematurity respiratory distress syndrome in premature infants IRDS NRDS RDS - infants hyaline Membrane disease hyaline Membrane disease, formerly infantile respiratory distress syndrome respiratory distress syndrome, infant respiratory distress syndrome in premature infants MONDO:0009972 respiratory underresponsiveness to hypoxia and hypercapnia respiratory underresponsiveness to hypoxia and hypercapnia MONDO:0009973 Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated. AK2 deficiency De Vaal disease SCID with leukopenia congenital aleukocytosis generalized hematopoietic hypoplasia reticular dysgenesis severe combined immunodeficiency with leukopenia DeVaal disease RD aleukocytosis congenital Aleukia hematopoietic hypoplasia, generalized reticular Dysgenesia reticular dysgenesis https://rarediseases.info.nih.gov/diseases/8625/reticular-dysgenesis MONDO:0009974 Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth. familial hemophagocytic lymphohistiocytosis FHL1 HLH1 HPLH1 familial HLH familial hemophagocytic lymphohistiocytosis type 1 Erythrophagocytic lymphohistiocytosis, familial Hlh1 Hplh1 familial hemophagocytic lymphohistiocytosis 1 hemophagocytic lymphohistiocytosis, familial hemophagocytic lymphohistiocytosis, familial, 1 hemophagocytic reticulosis, familial reticulosis, familial histiocytic Editor note: type 1 split out familial hemophagocytic lymphohistiocytosis type 1 MONDO:0009975 An antiquated term that refers to a non-Hodgkin lymphoma composed of diffuse infiltrates of large, often anaplastic lymphocytes. Reticulum cell sarcoma histiocytic lymphoma interdigitating cell sarcoma large-cell Lymphomas reticular cell sarcoma reticulosarcoma reticulum cell sarcoma sarcoma of reticular cell Editor note: check this reticulum cell sarcoma MONDO:0009976 retinal degeneration and epilepsy retinal degeneration and epilepsy MONDO:0009978 Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive. Mackay-Shek-Carr syndrome MacKay Shek Carr syndrome retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma retinal degeneration, nanophthalmos, glaucoma retinal degeneration-nanophthalmos-glaucoma syndrome MONDO:0009979 Reticular dystrophy of the retinal pigment epithelium is a patterned dystrophy of the retinal pigment epithelium, of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. Reticular dystrophy of the retinal pigment epithelium is sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris. https://github.com/monarch-initiative/mondo/issues/5117 reticular dystrophy of retinal pigment epithelium retinal dystrophy, reticular pigmentary, of POSTERIOR POLE reticular dystrophy of the retinal pigment epithelium MONDO:0009980 retinal telangiectasia and hypogammaglobulinemia Frenkel Russe syndrome retinal telangiectasia associated with hypogammaglobulinemia retinal telangiectasia and hypogammaglobulinemia MONDO:0009982 retinitis pigmentosa inversa with deafness retinitis pigmentosa inversa with deafness MONDO:0009983 Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism is an extremely rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993. retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and intellectual disability insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and mental retardation retinitis pigmentosa, deafness, intellectual disability, and hypogonadism retinitis pigmentosa, deafness, mental retardation, and hypogonadism retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome MONDO:0009984 A retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life. senile retinitis pigmentosa retinitis pigmentosa, 'Senile' retinitis pigmentosa, late-ADULT onset late-adult onset retinitis pigmentosa MONDO:0009985 Retinohepatoendocrinologic syndrome is characterized by total colorblindness caused by progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction (hypothyroidism, diabetes, repeated abortions or infertility). It has been described in six females from two sibships with a high degree of consanguinity, and in a male from another family. retinohepatoendocrinologic syndrome rhe syndrome retinohepatoendocrinologic syndrome https://rarediseases.info.nih.gov/diseases/4685/retinohepatoendocrinologic-syndrome MONDO:0009986 retinopathy, pigmentary, and intellectual disability retinopathy, pigmentary, and mental retardation Mirhosseini-Holmes-Walton syndrome retinal pigmentary degeneration, microcephaly, and severe intellectual disability retinal pigmentary degeneration, microcephaly, and severe mental retardation retinopathy pigmentary intellectual disability retinopathy pigmentary mental retardation retinopathy, pigmentary, and intellectual disability MONDO:0009987 A retinitis pigmentosa that is characterized autosomal recessive inheritance of pigmentary retinal degeneration with onset in the infancy but slower rates of progression than other forms of retinopathy. retinitis pigmentosa, pericentral retinopathy, pericentral pigmentary, autosomal recessive autosomal recessive pericentral pigmentary retinopathy MONDO:0009988 retinoschisis of fovea familial foveal retinoschisis foveal retinoschisis retinoschisis of fovea https://rarediseases.info.nih.gov/diseases/9143/retinoschisis-of-fovea MONDO:0009990 Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications. DKCA5 Revesz syndrome Revesz-DeBuse syndrome dyskeratosis congenita with bilateral exudative retinopathy dyskeratosis congenita, autosomal dominant 5 exudative retinopathy with bone marrow failure retinopathy-anemia-central nervous system anomalies syndrome Revesz syndrome https://rarediseases.info.nih.gov/diseases/4695/revesz-syndrome MONDO:0009992 myoglobinuria, acute recurrent, autosomal recessive myoglobinuria, familial paroxysmal paralytic rhabdomyolysis, acute recurrent myoglobinuria, acute recurrent, autosomal recessive MONDO:0009993 A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis. https://github.com/monarch-initiative/mondo/issues/4521 embryonal rhabdomyosarcoma (disease) ERMS embryonal rhabdomyosarcoma embryonal rhabdomyosarcoma (disease) rhabdomyosarcoma, embryonal, type 1 rhabdomyosarcoma, somatic RMSE1 botryoid rhabdomyosarcoma (type of ERMS) rhabdomyosarcoma 1 rhabdomyosarcoma chromosomal region rhabdomyosarcoma embryonal rhabdomyosarcoma, embryonal, 1 spindle cell rhabdomyosarcomas (type of ERMS) embryonal rhabdomyosarcoma MONDO:0009994 A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities. https://github.com/monarch-initiative/mondo/issues/4521 alveolar rhabdomyosarcoma (disease) alveolar childhood rhabdomyosarcoma alveolar rhabdomyosarcoma alveolar rhabdomyosarcoma (disease) alveolar rhabdomyosarcoma (morphologic abnormality) arms monomorphous round cell rhabdomyosarcoma pediatric alveolar rhabdomyosarcoma rhabdomyosarcoma 2, alveolar, somatic mutation rhabdomyosarcoma type 2 rhabdomyosarcoma, alveolar, somatic mutation RMS2 rhabdomyosarcoma 2 rhabdomyosarcoma alveolar rhabdomyosarcoma, alveolar alveolar rhabdomyosarcoma MONDO:0009996 Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies. familial rhizomelic dysplasia rhizomelic dysplasia, familial rhizomelic syndrome rhizomelic syndrome, Urbach type MONDO:0009997 Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS. https://github.com/monarch-initiative/mondo/issues/2553 https://github.com/monarch-initiative/mondo/issues/4901 Roberts syndrome/SC phocomelia Roberts-SC phocomelia syndrome Appelt-Gerken-Lenz syndrome Roberts tetraphocomelia syndrome pseudothalidomide syndrome tetraphocomelia-cleft palate syndrome SC phocomelia SC phocomelia syndrome (mild variant of Roberts syndrome) SC pseudothalidomide syndrome long bone deficiencies associated with cleft lip-palate Roberts syndrome MONDO:0009998 Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive. https://github.com/monarch-initiative/mondo/issues/4948 Richieri Costa-Pereira syndrome short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome ROBIN sequence with cleft mandible and limb anomalies Richieri Costa Pereira syndrome Richieri-Costa and Pereira form of acrofacial dysostosis Richieri-Costa-Pereira syndrome short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot Richieri Costa-Pereira syndrome https://rarediseases.info.nih.gov/diseases/4718/richieri-costa-pereira-syndrome MONDO:0009999 Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia. https://github.com/monarch-initiative/mondo/issues/4948 COVESDEM syndrome RRS Robinow syndrome, autosomal recessive costovertebral segmentation defect-mesomelia syndrome Covesdem syndrome Covesdem syndrome, formerly Robinow syndrome, autosomal recessive, with Brachy-syn-polydactyly Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals costovertebral segmentation defect with mesomelia costovertebral segmentation defect with mesomelia, formerly autosomal recessive Robinow syndrome MONDO:0010000 rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction MONDO:0010001 Ectodermal dysplasia-blindness syndrome is characterized by intellectual deficit, blindness caused by ocular malformations (microphthalmia, microcornea and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge and prominent ears), hypotrichosis, and malaligned teeth. It has been described in two siblings (brother and sister) and is likely to be transmitted as an autosomal recessive trait. RODRIGUES blindness microphthalmia, microcornea, and sclerocornea with short stature and hair and dental abnormalities microphthalmos, microcornea, and sclerocornea with short stature and hair and dental abnormalities ectodermal dysplasia-blindness syndrome MONDO:0010002 Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers. RTS Rothmund-Thomson syndrome congenital poikiloderma poikiloderma of Rothmund-Thomson poikiloderma atrophicans and cataract poikiloderma congenitale Editor note: check whether properties apply to both 1 and 2, or just type 2 Rothmund-Thomson syndrome MONDO:0010003 Rowley-Rosenberg syndrome Growth retardation, pulmonary hypertension, and amino aciduria Growth retardation, pulmonary hypertension, and aminoaciduria Rowley-Rosenberg syndrome https://rarediseases.info.nih.gov/diseases/8556/rowley-rosenberg-syndrome MONDO:0010004 EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate). Rudiger syndrome 1 Walker-Clodius syndrome ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome ectrodactyly-ectodermal dysplasia-cleft syndrome ectrodactyly-ectodermal dysplasia-clefting syndrome RUDIGER syndrome ectrodactyly-cleft lip/palate syndrome ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome EEC syndrome https://rarediseases.info.nih.gov/diseases/2076/eec-syndrome MONDO:0010005 Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria. hyperlysinemia type II saccharopine dehydrogenase deficiency saccharopinuria Alpha-aminoadipic semialdehyde synthase deficiency hyperlysinemia, type 2 saccharopinuria MONDO:0010006 Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterised by central nervous system degeneration. https://github.com/monarch-initiative/mondo/issues/4521 GM2 gangliosidosis 0 variant Hexosaminidases A and B deficiency Sandhoff Jatzkewitz disease Sandhoff disease Sandhoff disease, infantile, juvenile, and adult forms Beta-hexosaminidase-beta-subunit deficiency GM2 gangliosidosis, 0 variant GM2 gangliosidosis, type 2 GM2-gangliosidosis, type 2 Hexosaminidases a and B deficiency Sandhoff disease, adult type Sandhoff disease, infantile type Sandhoff disease, juvenile type Sandhoff-Jatzkewitz-Pilz disease hexosaminidase A and B deficiency disease total hexosaminidase deficiency Sandhoff disease MONDO:0010007 Microbrachycephaly-ptosis-cleft lip syndrome is characterised by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive. https://github.com/monarch-initiative/mondo/issues/5588 Richieri Costa-Guion Almeida-Ramos syndrome Richieri-COSTA/Guion-Almeida syndrome microbrachycephaly ptosis cleft lip sao Paulo MCA/Mr syndrome short stature, intellectual disability, eye anomalies, and cleft Lip/palate short stature, mental retardation, eye anomalies, and cleft Lip/palate microbrachycephaly-ptosis-cleft lip syndrome https://rarediseases.info.nih.gov/diseases/3596/microbrachycephaly-ptosis-cleft-lip MONDO:0010008 Sarcosinemia is a metabolic disorder characterized by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4985 sarcosinemia SARCOS SARD deficiency SARDH deficiency hypersarcosinemia sarcosine dehydrogenase complex deficiency sarcosinemia https://rarediseases.info.nih.gov/diseases/158/sarcosinemia MONDO:0010010 Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies. https://github.com/monarch-initiative/mondo/issues/5588 SGS Schinzel-Giedion midface-retraction syndrome Schinzel-Giedion syndrome Schinzel Giedion midface-retraction syndrome Schinzel Giedion syndrome Schinzel-Giedion midface retraction syndrome Sgs Schinzel-Giedion syndrome MONDO:0010011 Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation. schizencephaly schizencephaly MONDO:0010012 Autoimmune polyglandular syndrome of likely polygenic etiology characterized by the presence of primary adrenal insufficiency in association with autoimmune thyroiditis and/or type 1 diabetes mellitus; this condition is not associated with mucocutaneous candidiasis. APS type 2 APS2 Schmidt syndrome autoimmune polyendocrine syndrome type 2 autoimmune polyglandular syndrome type 2 autoimmune thyroid disease and/or type 1 diabetes-Addison disease syndrome APS 2 PGA 2 Schmidt's syndrome autoimmune polyendocrine syndrome, type II diabetes mellitus, Addison disease, myxedema diabetes mellitus, Addison's disease, myxedema multiple endocrine deficiency syndrome, type 2 polyendocrine autoimmune syndrome, type 2 polyglandular autoimmune syndrome, type 2 polyglandular deficiency syndrome type 2 autoimmune polyendocrinopathy type 2 MONDO:0010013 Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia. https://github.com/monarch-initiative/mondo/issues/4948 SLC35D1-CDG chondrodysplasia with snail-like pelvis schneckenbecken dysplasia SHNKND chondrodysplasia lethal neonatal with snail like pelvis chondrodysplasia, lethal neonatal, with snail-like pelvis schneckenbecken dysplasia https://rarediseases.info.nih.gov/diseases/169/schneckenbecken-dysplasia MONDO:0010014 Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted. https://github.com/monarch-initiative/mondo/issues/4948 Schwartz-Lelek syndrome CRANIOMETADIAPHYSEAL dysplasia CRMDD OMIM obsoleted 615118 and moved this to 269300 then renamed 269300 to what 615118 was called and did not retain as a synonym the old name of 269300. I merged these and swapped the name and synonym to retain the information - smb. craniometadiaphyseal dysplasia, wormian bone type MONDO:0010015 Any anterior segment dysgenesis in which the cause of the disease is a mutation in the PXDN gene. https://github.com/monarch-initiative/mondo/issues/4521 CCMCO PXDN anterior segment dysgenesis anterior segment dysgenesis 7 anterior segment dysgenesis 7, with sclerocornea anterior segment dysgenesis caused by mutation in PXDN sclerocornea with other ocular anomalies ASGD7 COPOA congenital cataract microcornea with corneal opacity corneal opacification and other ocular anomalies corneal opacification with Other ocular anomalies corneal opacification with other ocular anomalies sclerocornea with Other ocular anomalies anterior segment dysgenesis 7 MONDO:0010016 Any sclerosteosis in which the cause of the disease is a mutation in the SOST gene. https://github.com/monarch-initiative/mondo/issues/4948 SOST sclerosteosis SOST1 sclerosteosis 1 sclerosteosis caused by mutation in SOST sclerosteosis type 1 SOST cortical hyperostosis with syndactyly sclerosteosis 1 MONDO:0010017 A rare, inherited or acquired syndrome characterized by the presence of histiocytes in the bone marrow which contain granules stained blue with hematoxylin-eosin stain, mild thrombocytopenia and purpura, and splenomegaly. SEA-blue histiocyte disease histiocytosis, Sea-blue inherited Lipemic splenomegaly sea-blue histiocytosis sea-blue histiocyte syndrome MONDO:0010018 second metatarsal-metacarpal syndrome second metatarsal-metacarpal syndrome MONDO:0010019 secretory component deficiency IgA deficiency, secretory secretory component deficiency MONDO:0010020 Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the BSCL2 gene. BSCL2 congenital generalized lipodystrophy (disease) Berardinelli-Seip congenital lipodystrophy type 2 Berardinelli-Seip syndrome Brunzell syndrome BSCL2-related CGL2 congenital generalized lipodystrophy (disease) caused by mutation in BSCL2 congenital lipoatrophic diabetes total lipodystrophy and acromegaloid gigantism BSCL2-related Brunzell syndrome Berardinelli Seip congenital lipodystrophy type 2 Berardinelli syndrome Berardinelli-Seip congenital lipodystrophy, type 2 Brunzell syndrome, BSCL2-related Seip syndrome lipoatrophic diabetes, congenital lipodystrophy, Berardinelli-Seip congenital, type 2 lipodystrophy, congenital generalized, type 2 lipodystrophy, total, and acromegaloid gigantism congenital generalized lipodystrophy type 2 https://rarediseases.info.nih.gov/diseases/10212/congenital-generalized-lipodystrophy-type-2 MONDO:0010021 seizures, benign familial neonatal, autosomal recessive Bfns, autosomal recessive autosomal dominant form of benign neonatal seizures convulsions benign familial neonatal dominant form convulsions, benign familial neonatal, autosomal recessive epilepsy, benign familial neonatal, autosomal recessive seizures, benign familial neonatal, autosomal recessive MONDO:0010022 senile plaque formation senile plaque formation MONDO:0010023 Combined immunodeficiency due to ZAP70 deficiency is a very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction. zeta-associated-protein 70 deficiency IMD48 STCD ZAP-70 deficiency immunodeficiency 48 selective T-cell defect severe combined immunodeficiency due to ZAP70 deficiency combined immunodeficiency due to ZAP70 deficiency MONDO:0010024 Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal. https://github.com/monarch-initiative/mondo/issues/4948 Beemer-Langer syndrome short rib-polydactyly syndrome type 4 type IV short rib polydactyly syndrome Beemer Langer syndrome SRPS type 4 SRTD12 Srps 4 short rib polydactyly syndrome Beemer-Langer type short rib syndrome, Beemer type short rib-polydactyly syndrome Beemer type short rib-polydactyly syndrome type IV short rib-polydactyly syndrome, Beemer-Langer type short rib-polydactyly syndrome, type 4 short-rib thoracic dysplasia 12 Beemer-Langer syndrome MONDO:0010025 short stature-obesity syndrome SSOS short stature-obesity syndrome MONDO:0010026 SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease. https://github.com/monarch-initiative/mondo/issues/5723 Aarskog-Ose-Pande syndrome Rieger anomaly-partial lipodystrophy syndrome SHORT syndrome lipodystrophy-Rieger anomaly-diabetes syndrome short syndrome lipodystrophy, partial, with Rieger anomaly and short stature partial lipodystrophy with Rieger anomaly and short stature short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly and teething delay short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay SHORT syndrome MONDO:0010027 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/4985 ISSD sialic acid storage disorder, infantile N-acetylneuraminic acid storage disease Nana storage disease infantile free sialic acid storage disease infantile sialic acid storage disease infantile sialic acid storage disorder sialuria, infantile form free sialic acid storage disease, infantile form MONDO:0010028 Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood. sialuria sialuria, French type sialuria MONDO:0010029 A congenital condition in which there is complete right-to-left reversal of the position of the major thoracic and abdominal organs (that is, they are arranged in a mirror image of the normal positioning). https://github.com/monarch-initiative/mondo/issues/2826 https://github.com/monarch-initiative/mondo/issues/4521 complete situs inversus complete situs inversus viscerum complete transposition (morphologic abnormality) laterality sequence situs inversus situs inversus totalis situs inversus totalis (disease) situs ambiguus situs inversus MONDO:0010030 An autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjögren syndrome is also associated with rheumatic disorders such as rheumatoid arthritis or systemic lupus erythematosus. The hallmark symptoms of Sjögren syndrome are dry mouth and dry eyes. In addition, Sjogren syndrome may cause skin, nose, and vaginal dryness. It also may affect other organs of the body including the kidneys, blood vessels, lungs, liver, pancreas, and brain Sjogren syndrome Sjögren syndrome Sjögren-Gougerot syndrome primary Sjogren-Gougerot syndrome primary Sjögren-Gougerot syndrome sicca syndrome syndrome, Sjogren's xerodermosteosis Sjogren's syndrome primary Sjögren syndrome Editor note: check for differences with Mik PMID:10845583 Sjogren syndrome MONDO:0010031 A neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity. SLS Sjogren Larsson syndrome Sjogren-Larsson syndrome Sjogren-Larsson's syndrome fatty acid alcohol oxidoreductase deficiency FADH deficiency FALDH deficiency FAO deficiency Sjögren-Larsson syndrome fatty alcohol:NAD+ oxidoreductase deficiency fatty aldehyde dehydrogenase deficiency ichthyosis, spastic neurologic disorder, and oligophrenia Sjogren-Larsson syndrome https://rarediseases.info.nih.gov/diseases/7654/sjogren-larsson-syndrome MONDO:0010032 Sjogren-Larsson-like ichthyosis without CNS or eye involvement Sjogren-Larsson-like syndrome ichthyosis, Sjogren-Larsson-like, without CNS or eye involvement Sjogren-Larsson-like ichthyosis without CNS or eye involvement MONDO:0010033 Generalized peeling skin syndrome (PSS) is a form of PSS presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form. PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy. generalized PSS generalized deciduous skin peeling skin syndrome type 1 PSS1 peeling skin syndrome 1 generalized peeling skin syndrome MONDO:0010035 Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems. 7-dehydrocholesterol reductase deficiency RSH syndrome Rutledge lethal multiple congenital anomaly syndrome SLO syndrome SLOS Smith-Lemli-Opitz syndrome Smith-Opitz-inborn syndrome Smith Lemli Opitz syndrome lethal acrodysgenital syndrome polydactyly, sex reversal, renal hypoplasia, and unilobar lung polydactyly, sex reversal, renal hypoplasia, and unilobular lung Smith-Lemli-Opitz syndrome https://rarediseases.info.nih.gov/diseases/5683/smith-lemli-opitz-syndrome MONDO:0010036 Any secretory diarrhea in which the cause of the disease is a mutation in the SPINT2 gene. SPINT2 secretory diarrhea congenital secretory sodium diarrhea 3 syndromic congenital secretory sodium diarrhea 3 with or without other congenital anomalies congenital secretory sodium diarrhea type 3 secretory diarrhea caused by mutation in SPINT2 DIAR3 diarrhea 3, secretory sodium, congenital, syndromic diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies sodium diarrhea, congenital congenital secretory sodium diarrhea 3 MONDO:0010037 sodium-potassium-ATPase activity of red cell sodium pump sites, number of sodium-potassium-ATPase activity of red cell MONDO:0010038 Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum). growth delay due to insulin-like growth factor I resistance resistance to IGF-1 IGF-1 resistance IGF-I resistance IGF1RES Somatomedin end-organ insensitivity to Somatomedin, end-organ insensitivity to Somatomedin-C, resistance to Somatomedin-c resistance to insulin-like Growth Factor I, resistance to, due to increased binding Protein insulin-like growth factor 1 resistance to insulin-like growth factor I, resistance to growth delay due to insulin-like growth factor I resistance https://rarediseases.info.nih.gov/diseases/10609/insulin-like-growth-factor-1-resistance-to MONDO:0010039 Heart defect B round face B congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/5588 Sonoda syndrome round face with depressed nasal Bridge and small mouth, congenital heart defect, and retarded development congenital heart defect-round face-developmental delay syndrome MONDO:0010040 ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability MONDO:0010041 Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterised by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy. ARSACS Charlevoix-Saguenay spastic ataxia SPAX6 autosomal recessive spastic ataxia type 6 autosomal recessive spastic ataxia of Charlevoix-Saguenay sacs spastic ataxia 6, autosomal recessive spastic ataxia Charlevoix-Saguenay type spastic ataxia of Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay type Charlevoix-Saguenay spastic ataxia MONDO:0010042 spastic diplegia and intellectual disability spastic diplegia and mental retardation hereditary spastic diplegia with intellectual disability hereditary spastic diplegia with mental retardation spastic diplegia infantile type spastic diplegia, infantile type spastic diplegia and intellectual disability MONDO:0010043 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the BSCL2 gene. BSCL2 hereditary spastic paraplegia SPG17 Silver spastic paraplegia syndrome Silver syndrome autosomal dominant spastic paraplegia 17 autosomal dominant spastic paraplegia type 17 dHMN5B distal hereditary motor neuropathy type 5B hereditary spastic paraplegia caused by mutation in BSCL2 hereditary spastic paraplegia type 17 spastic paraplegia with amyotrophy of hands and feet spastic paraplegia-amyotrophy of hands and feet spastic paraplegia 17 spastic paraplegia 17, autosomal dominant hereditary spastic paraplegia 17 MONDO:0010044 Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding. Kjellin syndrome SPG15 ZFYVE26 autosomal recessive complex spastic paraplegia autosomal recessive complex spastic paraplegia caused by mutation in ZFYVE26 autosomal recessive spastic paraplegia 15 autosomal recessive spastic paraplegia type 15 hereditary spastic paraparesis type 15 hereditary spastic paraplegia 15 hereditary spastic paraplegia type 15 spastic paraplegia and retinal degeneration spastic paraplegia-retinal degeneration syndrome recessive spastic paraplegia with retinal degeneration spastic paraplegia 15 spastic paraplegia 15, autosomal recessive spastic paraplegia and retinal Degeneration hereditary spastic paraplegia 15 MONDO:0010046 Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32. DSTYK autosomal recessive complex spastic paraplegia Lison syndrome SPG23 autosomal recessive complex spastic paraplegia caused by mutation in DSTYK hereditary spastic paraplegia type 23 spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome spastic paraplegia 23 spastic paraplegia with pigmentary abnormalities SPG 23 autosomal recessive spastic paraplegia type 23 spastic paraparesis, vitiligo, premature graying, characteristic facies spastic paraplegia and pigmentary abnormalities spastic paraplegia vitiligo premature graying and characteristic facies hereditary spastic paraplegia 23 MONDO:0010047 Autosomal recessive spastic paraplegia type 5A (SPG5A) is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients. CYP7B1 pure or complex autosomal recessive spastic paraplegia SPG5A autosomal recessive spastic paraplegia 5A autosomal recessive spastic paraplegia type 5A hereditary spastic paraplegia type 5A pure or complex autosomal recessive spastic paraplegia caused by mutation in CYP7B1 spastic paraplegia type 5B, recessive autosomal recessive spastic paraplegia spastic paraplegia 5A spastic paraplegia 5A, autosomal recessive spastic paraplegia type 5A OMIM obsoleted 600146 and moved it to 270800 so I merged these - smb. hereditary spastic paraplegia 5A MONDO:0010048 spastic paraplegia with myoclonic epilepsy spastic paraplegia with myoclonic epilepsy MONDO:0010049 Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive. https://github.com/monarch-initiative/mondo/issues/5588 spastic paresis glaucoma intellectual disability spastic paresis glaucoma mental retardation spastic paresis, glaucoma, and intellectual disability spastic paresis, glaucoma, and mental retardation spastic paraplegia-glaucoma-intellectual disability syndrome MONDO:0010051 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome is characterized by nonprogressive spastic paraplegia, retinitis pigmentosa, and intellectual deficit. It has been described in two brothers born to consanguineous parents. https://github.com/monarch-initiative/mondo/issues/5588 spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome progressive quadriparesis, intellectual disability, retinitis pigmentosa and hearing loss progressive quadriparesis, mental retardation, retinitis pigmentosa and hearing loss spastic quadriplegia retinitis pigmentosa intellectual disability spastic quadriplegia retinitis pigmentosa mental retardation spastic quadriplegia, retinitis pigmentosa, and intellectual disability spastic quadriplegia, retinitis pigmentosa, and mental retardation spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome MONDO:0010052 Any azoospermia in which the cause of the disease is a mutation in the SYCP3 gene. SYCP3 azoospermia azoospermia caused by mutation in SYCP3 spermatogenic failure 4 spermatogenic failure type 4 SPGF4 arrest of spermatogenesis azoospermia due to Perturbations of meiosis azoospermia with maturation arrest pregnancy loss, recurrent, 4 pregnancy loss, recurrent, susceptibility to, 4 spermatogenesis arrest spermatogenic failure 4 MONDO:0010053 Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTA1 gene. HS3 SPH3 SPTA1 hereditary spherocytosis hereditary spherocytosis 3 hereditary spherocytosis caused by mutation in SPTA1 spherocytosis, hereditary, 3 spherocytosis, type 3 hereditary spherocytosis type 3 MONDO:0010054 spinal muscular atrophy with intellectual disability spinal muscular atrophy with mental retardation spinal muscular atrophy with intellectual disability MONDO:0010055 spinal muscular atrophy with microcephaly and mental subnormality spinal muscular atrophy with microcephaly and mental subnormality MONDO:0010056 Proximal spinal muscular atrophy type 4 (SMA4) is the adult-onset form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. https://github.com/monarch-initiative/mondo/issues/4521 SMA type 4 SMA type IV SMA-IV SMA4 adult spinal muscular atrophy spinal muscular atrophy of adults spinal muscular atrophy, adult form spinal muscular atrophy, type IV spinal muscular atrophy-4 SMA 4 adult-onset spinal muscular atrophy proximal spinal muscular atrophy type 4 spinal muscular atrophy 4 spinal muscular atrophy type 4 spinal muscular atrophy, proximal, adult, autosomal recessive spinal muscular atrophy, type 4 spinal muscular atrophy, type IV MONDO:0010057 spinal muscular atrophy, Ryukyuan type Ryukyuan muscular atrophy spinal muscular atrophy Ryukyuan type spinal muscular atrophy, Ryukyuan type https://rarediseases.info.nih.gov/diseases/9646/spinal-muscular-atrophy-ryukyuan-type MONDO:0010058 spinal muscular atrophy, scapuloperoneal scapuloperoneal spinal muscular atrophy, autosomal recessive MONDO:0010060 Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families. IOSCA OHAHA syndrome Ohaha syndrome TWNK autosomal recessive degenerative and progressive cerebellar ataxia autosomal recessive degenerative and progressive cerebellar ataxia caused by mutation in TWNK mitochondrial DNA depletion syndrome type 7 ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome MTDPS7 SCA8 (formerly) mitochondrial DNA depletion syndrome 7 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis ophthalmoplegia, hypotonia, ataxia, hypoacusis, and athetosis spinocerebellar ataxia 8 spinocerebellar ataxia 8 (formerly) spinocerebellar ataxia 8, formerly spinocerebellar ataxia infantile with sensory neuropathy spinocerebellar ataxia, infantile, with sensory neuropathy spinocerebellar ataxia, infantile-onset infantile onset spinocerebellar ataxia MONDO:0010061 SCABD SCAR3 autosomal recessive spinocerebellar ataxia type 3 autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome autosomal recessive cerebellar ataxia - blindness - deafness autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome spinocerebellar ataxia autosomal recessive 3 spinocerebellar ataxia with blindness and deafness spinocerebellar ataxia, autosomal recessive 3 autosomal recessive cerebellar ataxia-blindness-deafness syndrome MONDO:0010062 Spinocerebellar ataxia-dysmorphism is marked by characteristic facies associated with dysarthria, delayed psychomotor development, ataxia, scoliosis and foot deformities. Three cases have been described and transmission appears to be autosomal recessive. spinocerebellar ataxia with dysmorphism spinocerebellar ataxia-dysmorphism syndrome MONDO:0010063 A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985. Der Kaloustian-Jarudi-Khoury syndrome corneal-cerebellar syndrome spinocerebellar degeneration-corneal dystrophy syndrome Der Kaloustian Jarudi Khoury syndrome corneal cerebellar syndrome corneal dystrophy with spinocerebellar Degeneration spinocerebellar degeneration and corneal dystrophy spinocerebellar degeneration corneal dystrophy corneal-cerebellar syndrome MONDO:0010064 Mousa-AlDin-AlNassar syndrome is characterised by the presence of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia. Bedouin spastic ataxia syndrome Mousa-Al Din-Al Nassar syndrome spastic ataxia-ocular anomalies syndrome Mousa Al din Al Nassar syndrome spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted discs spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia spastic ataxia-corneal dystrophy syndrome MONDO:0010065 spinocerebellar degeneration with slow eye movements SDSEM Editor note: check this spinocerebellar degeneration with slow eye movements MONDO:0010066 Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings. https://github.com/monarch-initiative/mondo/issues/4069 ICAS asplenia, familial asplenia, isolated congenital hyposplenia, isolated congenital splenic hypoplasia familial isolated congenital asplenia MONDO:0010067 splenoportal vascular anomalies splenoportal vascular anomalies MONDO:0010068 A rare genetic disorder characterized by bone marrow failure, spinal abnormalities, saddle nose, and metaphysical striation. https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5280 sponastrime dysplasia spondylar and nasal alterations-striated metaphyses syndrome spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia spondylar and nasal changes with triations of the metaphyses (SPONASTRIME) dysplasia spondyloepimetaphyseal dysplasia, Sponastrime type spondyloepimetaphyseal dysplasia, sponastrime type Sponastrime dysplasia short limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation short-limb dwarfism with saddle Nose, spinal alterations, and metaphyseal striation spondylar and nasal alterations with striated metaphyses spondyloepimetaphyseal dysplasia Sponastrime type spondyloepimetaphyseal dysplasia, sponastrime type https://rarediseases.info.nih.gov/diseases/4970/spondyloepimetaphyseal-dysplasia-sponastrime-type MONDO:0010069 Spondylocostal dysostosis-anal and genitourinary malformations syndrome is characterised by the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. Autosomal recessive inheritance has been suggested. https://github.com/monarch-initiative/mondo/issues/5588 Casamassima-Morton-Nance syndrome CMn syndrome spondylocostal dysostosis with anal atresia and urogenital anomalies spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome spondylocostal dysostosis-anal and genitourinary malformations syndrome MONDO:0010070 BCYM1A brachyolmia type 1, Hobaek type brachyolmia, recessive type of Hobaek spondylodysplasia with Pure brachyolmia brachyolmia type 1, Hobaek type MONDO:0010072 Autosomal recessive form of spondyloepiphyseal dysplasia tarda. autosomal recessive spondyloepiphyseal dysplasia tarda spondyloepiphyseal dysplasia tarda, autosomal recessive spondyloepiphyseal dysplasia tarda, autosomal recessive MONDO:0010073 Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit. https://github.com/monarch-initiative/mondo/issues/5588 Sedt with intellectual disability Sedt with mental retardation spondyloepiphyseal dysplasia tarda with intellectual disability spondyloepiphyseal dysplasia tarda with mental retardation spondyloepiphyseal dysplasia tarda, Kohn type MONDO:0010074 BCYM1B PAPS-chondroitin sulfate sulfotransferase deficiency Sed, chondroitin sulfate type brachyolmia type 1, Toledo type spondyloepiphyseal dysplasia tarda, Toledo type brachyolmia type 1, toledo type MONDO:0010075 Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene. https://github.com/monarch-initiative/mondo/issues/4948 SEMDJL B3GALT6 spondyloepimetaphyseal dysplasia with joint laxity SEMDJL1 spondyloepimetaphyseal dysplasia with joint laxity caused by mutation in B3GALT6 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures spondyloepimetaphyseal dysplasia with JOINT laxity, type 1, with or without fractures spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures MONDO:0010076 A spondyloepimetaphyseal dysplasia is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment. https://github.com/monarch-initiative/mondo/issues/5280 SEMD, Irapa type spondyloepimetaphyseal dysplasia, Irapa type SEMDIT spondyloepimetaphyseal dysplasia, Irapa type MONDO:0010077 A rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal. https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5280 SMED short limb-hand type SMED type 2 Smed short limb-abnormal calcification type Smed, short limb-abnormal calcification type Smed, short limb-hand type Smed, type 2 Smed-SL Smed-SL/Ac spondyloepimetaphyseal dysplasia - short limb - abnormal calcification spondylometaepiphyseal dysplasia short limb-abnormal calcification type spondylometaepiphyseal dysplasia short limb-hand type spondylometaepiphyseal dysplasia, short limb-abnormal calcification type spondylometaepiphyseal dysplasia, short limb-hand type spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome MONDO:0010078 A condition caused by by truncating mutations in the C-propeptide of COL2A1. Like other type II collagen disorders it is characterised by short stature, platyspondyly and epiphyseal dysplasia. A distinguishing feature is the presence of brachydactyly with a prominent first toe. https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5282 spondyloperipheral dysplasia spondyloperipheral dysplasia-short ulna syndrome spondyloperipheral dysplasia with short ulna spondyloperipheral dysplasia MONDO:0010079 A neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay. ACY2 deficiency Canavan disease Canavan-VAN Bogaert-Bertrand disease aminoacylase 2 deficiency aspartoacylase deficiency spongy degeneration of central nervous system spongy degeneration of the brain Acy2 deficiency Asp deficiency Aspa deficiency Canavan-Van Bogaert-Bertrand disease Von Bogaert-Bertrand disease spongy Degeneration of central nervous system spongy degeneration of the central nervous system Canavan disease https://rarediseases.info.nih.gov/diseases/5984/canavan-disease MONDO:0010080 The familial form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. familial IBSN familial infantile striatonigral degeneration familial infantile striatonigral necrosis hereditary infantile bilateral striatal necrosis FBSN SNDI bilateral striatal Necrosis, infantile familial bilateral striatal necrosis infantile bilateral striatal necrosis striatal degeneration, familial striatonigral degeneration, infantile familial infantile bilateral striatal necrosis https://rarediseases.info.nih.gov/diseases/10665/familial-bilateral-striatal-necrosis MONDO:0010081 subaortic stenosis, membranous subaortic stenosis, membranous MONDO:0010082 Onat syndrome subaortic stenosis short stature syndrome subaortic stenosis--short stature syndrome subaortic stenosis-short stature syndrome https://rarediseases.info.nih.gov/diseases/405/subaortic-stenosis-short-stature-syndrome MONDO:0010083 Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation. 4-hydroxybutyric aciduria SSADH SSADH deficiency gamma-hydroxybutyric aciduria succinic semialdehyde dehydrogenase deficiency GABA metabolic defect SSADHD Ssadh deficiency gamma-hydroxybutyricaciduria succinic semialdehyde dehydrogenase deficiency https://rarediseases.info.nih.gov/diseases/7695/succinic-semialdehyde-dehydrogenase-deficiency MONDO:0010084 sucrosuria, hiatus hernia and intellectual disability sucrosuria, hiatus hernia and mental retardation sucrosuria, hiatus hernia and intellectual disability MONDO:0010085 Schilder's disease is a progressive demyelinating disorder of the central nervous system. Myelinoclastic diffuse sclerosis Schilder disease Schilder's disease SUDANOPHILIC cerebral sclerosis Schilder disease MONDO:0010087 Sugarman brachydactyly is a rare, genetic, congenital limb malformation characterized by brachydactyly of fingers, with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. There have been no further descriptions in the literature since 1982. Sugarman brachydactyly Sugarman-Hager-Kulik syndrome brachydactyly with major proximal phalangeal shortening brachydactyly of the hands and feet with duplication of the first toes brachydactyly with Major proximal phalangeal shortening Sugarman brachydactyly https://rarediseases.info.nih.gov/diseases/5058/sugarman-brachydactyly MONDO:0010088 Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus. https://github.com/monarch-initiative/mondo/issues/4948 MSD juvenile sulfatidosis, Austin type mucosulfatidosis multiple sulfatase deficiency disease sulfatidosis, juvenile, Austin type juvenile sulfatidosis multiple sulfatase deficiency sulfatidosis juvenile, Austin type mucosulfatidosis MONDO:0010089 ISOD Sulfocysteinuria isolated sulfite oxidase deficiency sulfite oxidase deficiency sulfite oxidase deficiency, isolated sulfocysteinuria isolated sulfite oxidase deficiency MONDO:0010090 Summitt syndrome is an extremely rare disorder originally described in two brothers and characterized by mild to severe craniosynostosis and syndactyly, obesity, and normal intelligence. Acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum and marked obesity were later described in another patient. There have been no further descriptions in the literature since 1979. Summitt syndrome could be a variant of Carpenter syndrome. Summitt syndrome Summitt's acrocephalosyndactyly recessive acrocephalosyndactyly with normal intelligence Summitt syndrome https://rarediseases.info.nih.gov/diseases/127/summitt-syndrome MONDO:0010091 Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. Crisponi syndrome cold-induced sweating syndrome type 1 CISS1 CRISPONI/cold-induced sweating syndrome 1 Crisponi/cold-induced sweating syndrome 1 Sohar-Crisponi syndrome cold-induced sweating syndrome 1 muscle contractions, Tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death Cold-induced sweating syndrome 1 MONDO:0010092 Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive. https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5588 Filippi syndrome type 1 syndactyly-microcephaly-intellectual disability syndrome FILIPPI syndrome FLPIS Scott craniodigital syndrome with intellectual disability Scott craniodigital syndrome with mental retardation syndactyly type I with microcephaly and intellectual disability syndactyly type I with microcephaly and mental retardation syndactyly, type I, with microcephaly and intellectual disability syndactyly, type I, with microcephaly and mental retardation unusual facial appearance, microcephaly, growth and intellectual disability and syndactyly unusual facial appearance, microcephaly, growth and mental retardation and syndactyly Filippi syndrome MONDO:0010093 syndesmodysplasic dwarfism syndesmodysplasic dwarfism MONDO:0010094 Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism. https://github.com/monarch-initiative/mondo/issues/4948 SCT Synspondylism congenital scoliosis with unilateral unsegmented bar congenital synspondylism spondylocarpotarsal syndrome spondylocarpotarsal synostosis spondylocarpotarsal synostosis syndrome vertebral fusion with carpal coalition Synspondylism congenital Synspondylism, congenital scoliosis, congenital with unilateral unsegmented bar scoliosis, congenital, with unilateral unsegmented Bar spondylocarpotarsal synostosis syndrome https://rarediseases.info.nih.gov/diseases/4974/spondylocarpotarsal-synostosis-syndrome MONDO:0010095 tapetoretinal degeneration with ataxia ataxia-tapetoretinal degeneration syndrome MONDO:0010096 tardive dyskinesia (disease) tardive dyskinesia tardive dyskinesia (disease) tardive dyskinesia MONDO:0010097 Tatsumi factor deficiency Tatsumi factor deficiency MONDO:0010098 Taurodontism is a dental anomaly characterized by an elongated pulp chamber, displaced toward the apical floor of the tooth with no constriction at the level of the cemento-enamel junction, and short roots. It most frequently affects permanent molar teeth. Taurodontism increases the risk of pulp exposure. It can be isolated or associated with certain syndromes such as Down syndrome, amelogenesis imperfecta, and Klinefelter syndrome. taurodontism (disease) taurodontism taurodontism (disease) Bull teeth large pulp chambers in the molars taurodontism MONDO:0010099 GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency. Tay-Sachs disease, variant AB hexosaminidase activator deficiency Ab variant GM2-gangliosidosis GM2 activator deficiency GM2 gangliosidosis, AB variant GM2-gangliosidosis, AB variant Tay-Sachs disease, AB variant Tay-Sachs disease AB variant MONDO:0010100 GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency. https://github.com/monarch-initiative/mondo/issues/4521 GM2 gangliosidosis, B, B1 variant GM2-gangliosidosis, several forms Hex A pseudodeficiency Tay-Sachs disease disease, Tay-Sachs hexosaminidase A deficiency B variant GM2 gangliosidosis B variant GM2-gangliosidosis GM2 gangliosidosis, type 1 GM2-gangliosidosis, adult chronic type GM2-gangliosidosis, type 1 GM2-gangliosidosis, variant B1 TAY-Sachs disease TSD Tay-Sachs disease, juvenile Tay-Sachs disease, pseudo-Ab variant Tay-Sachs disease, variant B1 gangliosidosis GM2, type 1 hexa deficiency hexosaminidase a deficiency hexosaminidase a deficiency, adult type hexosaminidase alpha-subunit deficiency (variant B) sphingolipidosis, Tay-Sachs Tay-Sachs disease https://rarediseases.info.nih.gov/diseases/7737/tay-sachs-disease MONDO:0010101 Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features. Teebi-Shaltout syndrome TBSH Teebi Shaltout syndrome craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage Teebi-Shaltout syndrome https://rarediseases.info.nih.gov/diseases/5125/teebi-shaltout-syndrome MONDO:0010102 This syndrome is characterised by congenital absence of the teeth, and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families. taurodontia, absent teeth, and sparse hair taurodontia, absent teeth, sparse hair syndrome teeth, congenital absence of, with taurodontia and sparse hair taurodontia-absent teeth-sparse hair syndrome https://rarediseases.info.nih.gov/diseases/5118/taurodontia-absent-teeth-sparse-hair-syndrome MONDO:0010103 teeth, fused teeth, fused MONDO:0010104 Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears. Stoelinga-de Koomen-Davis syndrome Stoelinga de Koomen Davis syndrome multiple non-erupting teeth, maxillo-zygomatical hypoplasia and other congenital defects multiple none-erupting teeth, maxillo-zygomatical hypoplasia and other congenital defects non erupted teeth with maxillary hypoplasia and genu valgum teeth noneruption of with maxillary hypoplasia and genu valgum teeth, noneruption of, with maxillary hypoplasia and genu valgum non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome MONDO:0010105 teratoma, pineal teratoma, pineal MONDO:0010106 testes, rudimentary testes, rudimentary MONDO:0010108 A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor. https://github.com/monarch-initiative/mondo/issues/4521 TGCT germ cell neoplasm of testis germ cell neoplasm of the testis germ cell tumor of testis germ cell tumor of the testis germ cell tumors, somatic male germ cell tumor, somatic spermatocytic seminoma, somatic testicular germ cell neoplasm testicular germ cell neoplasms testicular germ cell tumor testicular tumor, somatic testis germ cell tumor Male germ cell tumor embryonal cell carcinoma endodermal sinus tumor nonseminomatous germ cell tumors seminoma spermatocytic seminoma teratoma, testicular testicular germ cell cancer testicular germ cell tumor MONDO:0010109 tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities Madokoro Ohdo Sonoda syndrome tetra-amelia, ectodermal dysplasia, and lacrimal duct abnormality tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities https://rarediseases.info.nih.gov/diseases/3348/madokoro-ohdo-sonoda-syndrome https://rarediseases.info.nih.gov/diseases/5146/tetraamelia-with-ectodermal-dysplasia-and-lacrimal-duct-abnormalities MONDO:0010110 Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent. Zimmer phocomelia TETAMS TETRAAMELIA syndrome, autosomal recessive Tetraamelia multiple malformations X-linked Zimmer Taub Sova syndrome TODO split OMIM out tetraamelia-multiple malformations syndrome MONDO:0010111 Odontotrichomelic syndrome is characterised by malformations of all four extremities, hypoplastic nails, ear anomalies, hypotrichosis, abnormal dentition, hyperhidrosis and nasolacrimal duct obstruction. So far, it has been described in less than 10 patients. Transmission is autosomal recessive. Freire-Maia odontotrichomelic syndrome Freire-Maia syndrome odontotrichomelic hypohidrotic dysplasia odontotrichomelic syndrome tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities odontotrichomelic syndrome https://rarediseases.info.nih.gov/diseases/2381/freire-maia-odontotrichomelic-syndrome MONDO:0010112 thalamic degeneration, symmetric infantile symmetric infantile thalamic degeneration symmetrical thalamic degeneration in infants thalamic degeneration, symmetric infantile https://rarediseases.info.nih.gov/diseases/5160/thalamic-degeneration-symmetric-infantile MONDO:0010114 thanatophoric dysplasia, Glasgow variant neonatally lethal short-limb skeletal dysplasia, Glasgow type thanatophoric dysplasia, Glasgow variant MONDO:0010115 thoracic dysplasia-hydrocephalus syndrome thoracic dysplasia hydrocephalus syndrome thoracic dysplasia-hydrocephalus syndrome https://rarediseases.info.nih.gov/diseases/5180/thoracic-dysplasia-hydrocephalus-syndrome MONDO:0010116 Rivera-Perez-Salas syndrome thoracolimb dysplasia, Rivera type thoracomelic dysplasia 'thoraco-limb' dysplasia thoraco-limb dysplasia thoracomelic dysplasia MONDO:0010117 Any 3-M syndrome in which the cause of the disease is a mutation in the CUL7 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 3-M syndrome 1 3-M syndrome caused by mutation in CUL7 3-M syndrome caused by mutation in Cul7 CUL7 3-M syndrome Cul7 3-M syndrome three M syndrome 1 three M syndrome type 1 3M syndrome 3M1 Dolichospondylic dysplasia Le Merrer syndrome Yakut short stature syndrome gloomy face syndrome 3M syndrome 1 MONDO:0010118 hyperthreoninemia threoninemia inherited threoninemia MONDO:0010120 THC3 thrombocytopenia 3 thrombocytopenia, autosomal recessive, 3 thrombocytopenia 3 MONDO:0010121 Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia. https://github.com/monarch-initiative/mondo/issues/4948 1q21.1 susceptibility locus for Thrombocytopenia-Absent Radius (TAR) syndrome TAR syndrome radial aplasia-thrombocytopenia syndrome thrombocytopenia with absent radii (TAR) syndrome thrombocytopenia-absent radius syndrome TAR Tar syndrome absent radii and thrombocytopenia chromosome 1Q21.1 deletion syndrome, 200-Kb thrombocytopenia absent radii thrombocytopenia absent radius syndrome thrombocytopenia-absent radius syndrome MONDO:0010122 Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 Upshaw-Schulman syndrome congenital ADAMTS-13 deficiency congenital ADAMTS13 deficiency congenital TTP congenital thrombotic thrombocytopenic purpura familial TTP hereditary thrombotic thrombocytopenic purpura thrombotic thrombocytopenic purpura, hereditary Microangiopathic hemolytic Anemia Microangiopathic hemolytic Anemia, congenital Schulman-Upshaw syndrome TTP TTP, congenital USS Upshaw Factor, deficiency of thrombotic microangiopathy, familial thrombotic thrombocytopenic purpura, congenital thrombotic thrombocytopenic purpura, familial congenital thrombotic thrombocytopenic purpura MONDO:0010123 An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. thumb agenesis, short stature, and immunodeficiency absent thumb-short stature-immunodeficiency syndrome MONDO:0010124 thumb, distal hyperextensibility of thumb, distal hyperextensibility of MONDO:0010125 Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation. https://github.com/monarch-initiative/mondo/issues/5588 thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness upper limb defect-eye and ear abnormalities syndrome MONDO:0010126 thymic aplasia with fetal death thymic aplasia with fetal death MONDO:0010127 An instance of thymoma (disease) that is caused by an inherited modification of the individual's genome. hereditary thymoma (disease) thymoma, familial thymic neoplasia thymoma, familial MONDO:0010128 Thyrocerebrorenal syndrome is characterized by renal, neurologic, thyroid disease, associated with thrombocytopenia. It has been described in a brother and his sister. Intelligence was normal. It is transmitted as an autosomal recessive trait. cutler-Bass-Romshe syndrome THYROCEREBRORETINAL syndrome Thyrocerebral-retinal syndrome thyrocerebrorenal syndrome MONDO:0010129 This syndrome is characterised by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus. thymic-renal-anal-lung dysplasia syndrome of unilobed or absent thymus, renal and ureter agenesis/dysgenesis, and intrauterine growth retardation (IUGR) thymic-renal-anal-lung dysplasia https://rarediseases.info.nih.gov/diseases/5202/thymic-renal-anal-lung-dysplasia MONDO:0010130 Dihydropyrimidine dehydrogenase (DPD) deficiency isaconditionin which the body cannot break down the nucleotides thymine and uracil. DPD deficiency can have a wide range of severity; some individuals may have various neurological problems, while others have no signsand symptoms. Signs and symptoms in severely affected individuals begin in infancy and may include seizures, intellectual disability, microcephaly, increased muscle tone (hypertonia), delayed motor skills, and autistic behavior. All individuals with the condition, regardless of the presence or severity of symptoms, are at risk for severe, toxic reactions to drugs called fluoropyrimidines which are used to treat cancer. Individuals with no symptoms may be diagnosed only by laboratory testing or after exposure to fluoropyrimidines. DPD deficiency is caused by mutations in the DPYD gene and is inherited in an autosomal recessive manner. DYPD deficiency dihydropyrimidine dehydrogenase deficiency dihydrouracil dehydrogenase deficiency familial pyrimidinaemia familial pyrimidinemia thymine-uracilurea DPD deficiency Dpyd deficiency hereditary thymine-uraciluria pyrimidinemia, familial thymine-Uraciluria, hereditary dihydropyrimidine dehydrogenase deficiency https://rarediseases.info.nih.gov/diseases/19/dihydropyrimidine-dehydrogenase-deficiency MONDO:0010131 A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum. https://github.com/monarch-initiative/mondo/issues/4521 thyroid hormone resistance thyroid hormone resistance syndrome thyroid hormone resistance, autosomal recessive thyroid hormone resistance, generalized, autosomal recessive GRTH Gthr Refetoff syndrome THRB thyroid hormone receptor BETA thyroid hormone unresponsiveness thyroid hormone resistance, generalized, autosomal recessive MONDO:0010132 A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis. https://github.com/monarch-initiative/mondo/issues/642 dyshormonogenesis nongoitrous hyperthyrotropinemia thyroid dyshormonogenesis familial thyroid dyshormonogenesis MONDO:0010133 Thyroid peroxidase system defect due to presumed mutation(s) in the TPO gene, resulting in decreased activity of thyroid peroxidase. TDH2A TPO familial thyroid dyshormonogenesis familial thyroid dyshormonogenesis caused by mutation in TPO hypothyroidism, congenital, due to dyshormonogenesis, 2A thyroid dyshormonogenesis 2A thyroid dyshormonogenesis type 2A thyroid hormonogenesis, genetic defect in, 2A iodide peroxidase deficiency thyroid peroxidase deficiency thyroid dyshormonogenesis 2A MONDO:0010134 Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter. Pendred syndrome TDH2B congenital hypothyroidism due to dyshormonogenesis 2B deafness with goiter genetic defect in thyroid hormonogenesis 2B goiter-deafness syndrome hypothyroidism, congenital, due to dyshormonogenesis, 2B thyroid dyshormonogenesis 2B thyroid hormonogenesis, genetic defect in, 2B PDS autosomal recessive sensorineural hearing impairment and goiter Pendred syndrome MONDO:0010135 Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the TG gene. TDH3 TG familial thyroid dyshormonogenesis familial thyroid dyshormonogenesis caused by mutation in TG hypothyroidism, congenital, due to dyshormonogenesis, 3 thyroid dyshormonogenesis 3 thyroid dyshormonogenesis type 3 thyroid hormonogenesis, genetic defect in, 3 thyroid dyshormonogenesis 3 MONDO:0010136 Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the IYD gene. IYD familial thyroid dyshormonogenesis TDH4 familial thyroid dyshormonogenesis caused by mutation in IYD hypothyroidism, congenital, due to dyshormonogenesis, 4 thyroid dyshormonogenesis 4 thyroid dyshormonogenesis type 4 thyroid hormonogenesis, genetic defect in, 4 deiodinase deficiency iodotyrosine dehalogenase deficiency thyroid dyshormonogenesis 4 MONDO:0010137 Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOXA2 gene. DUOXA2 familial thyroid dyshormonogenesis TDH5 familial thyroid dyshormonogenesis caused by mutation in DUOXA2 hypothyroidism, congenital, due to dyshormonogenesis, 5 thyroid dyshormonogenesis 5 thyroid dyshormonogenesis type 5 thyroid hormonogenesis, genetic defect in, 5 thyroid dyshormonogenesis 5 MONDO:0010138 A hypermetabolic syndrome caused by the elevation of thyroid hormone levels in the serum. Signs and symptoms include tachycardia, palpitations, tremor, weight loss, warm weather intolerance, and moist skin. Causes include Graves disease, toxic nodular goiter, toxic thyroid nodule, and lymphocytic thyroiditis. GRD GRD1 Graves disease, susceptibility to, 1 hyperthyroidism, autoimmune thyrotoxicosis MONDO:0010139 Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis. https://github.com/monarch-initiative/mondo/issues/4521 CHNG4 hypothyroidism, congenital, nongoitrous 4 hypothyroidism, congenital, nongoitrous, type 4 isolated TSH deficiency isolated thyrotropin deficiency TSH deficiency congenital nongoitrous hypothryoidism 4 congenital nongoitrous hypothyroidism 4 hypothyroidism, congenital, nongoitrous, 4 pituitary cretinism thyroid-stimulating hormone deficiency thyroid-stimulating hormone, deficiency of thyrotropin deficiency, isolated thyrotropin, biologically inactive isolated thyroid-stimulating hormone deficiency MONDO:0010140 Hypothyroidism due to dysfunction of the hypothalamus, assumed to result in reduced secretion of thyrotropin- releasing hormone. isolated TRF deficiency isolated TRH deficiency isolated TSH-releasing factor deficiency isolated prothyroliberin deficiency isolated protirelin deficiency isolated thyroliberin deficiency isolated thyrotropin-releasing factor deficiency tertiary hypothyroidism TRH deficiency hypothalamic hypothyroidism thyrotropin-releasing hormone deficiency isolated thyrotropin-releasing hormone deficiency MONDO:0010141 tiglic acidemia disorder of isoleucine metabolism tiglic acidemia https://rarediseases.info.nih.gov/diseases/9958/tiglic-acidemia MONDO:0010142 Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH. CHNG1 TSH resistance hypothyroidism, congenital, nongoitrous, type 1 congenital nongoitrous hypothryoidism 1 congenital nongoitrous hypothyroidism 1 hypothyroidism due to unresponsiveness to thyrotropin hypothyroidism, Nonautoimmune hypothyroidism, congenital, due to TSH resistance hypothyroidism, congenital, nongoitrous, 1 thyroid-stimulating hormone, resistance to thyrotropin resistance hypothyroidism due to TSH receptor mutations MONDO:0010144 Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula. https://github.com/monarch-initiative/mondo/issues/4948 congenital absence of tibia congenital aplasia and dysplasia of the tibia with intact fibula congenital longitudinal deficiency of the tibia tibial hemimelia tibial longitudinal meromelia Thm absence of tibia bilateral absence of the tibia tibia, absence of tibial hemimelia MONDO:0010145 https://github.com/monarch-initiative/mondo/issues/4069 tibia, absence of, with congenital deafness tibia, absence of, with congenital deafness MONDO:0010146 A rare inflammatory and suppurating type of tinea capitis, a skin infection caused by Trichophyton or Microsporum fungi, that predominantly affects the scalp and that is characterized by the development of painful crusty lesions covered with follicular pustules and surrounded by erythematous alopecic areas, that can later evolve into abscesses and leave permanent cicatricial alopecia. Lesions can be associated with regional lymphadenopathy. TINEA imbricata, susceptibility to Tinea capitis profunda Trichophyton infection susceptibility to Tinea imbricata trichophytia profunda barbae trichophytia profunda capitis Kerion celsi https://rarediseases.info.nih.gov/diseases/3109/kerion-celsi MONDO:0010147 tongue, pigmented fungiform papillae of tongue, pigmented fungiform papillae of MONDO:0010148 Mounier-Kuhn syndrome, also known as idiopathic tracheobronchomegaly, is a congenital disorder characterized by marked dilatation of the trachea and proximal bronchi that leads to impaired airway secretion clearance and recurrent lower respiratory tract infections. Mounier-Kuhn syndrome congenital tracheobronchomegaly idiopathic tracheobronchomegaly tracheobronchomegaly Mounier Kuhn syndrome Mounier-Kühn syndrome Mounier-Kuhn syndrome MONDO:0010149 Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia. TCN2 deficiency inherited deficiency of transcobalamin transcobalamin II deficiency TC 2 deficiency Tcn2 deficiency transcobalamin 2 deficiency transcobalamin deficiency transcobalamin II deficiency MONDO:0010150 A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands. https://github.com/monarch-initiative/mondo/issues/4521 HNSCC SCCHN craniocervical region squamous cell carcinoma head and neck squamous cell carcinoma squamous cell carcinoma of head and neck squamous cell carcinoma of the head and neck squamous cell carcinoma, head and neck, somatic squamous cell carcinomas of head and neck carcinoma of the head and neck squamous cell carcinoma, head and neck head and neck squamous cell carcinoma MONDO:0010151 tricarboxylic acid cycle, defect of tricarboxylic acid cycle, defect of MONDO:0010152 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability. Oliver-McFarlane syndrome long eyelashes-intellectual disability syndrome OMCS Oliver McFarlane syndrome eyelashes, long with intellectual disability eyelashes, long, with intellectual disability eyelashes, long, with mental retardation trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina trichomegaly with intellectual disability, dwarfism, and pigmentary Degeneration of retina trichomegaly with mental retardation, dwarfism, and pigmentary Degeneration of retina trichomegaly-retina pigmentary degeneration-dwarfism syndrome MONDO:0010153 Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (incl. nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983. trichoodontoonychial dysplasia with bone deficiency in frontoparietal region trichoodontoonychial dysplasia with bone deficiency trichoodontoonychial dysplasia https://rarediseases.info.nih.gov/diseases/5267/trichoodontoonychial-dysplasia MONDO:0010154 Trigonocephaly-bifid nose-acral anomalies syndrome is characterized by trigonocephaly, brachycephaly, bulbous nose (bifid at the tip), micrognathia, macrostomia, hypotonia and relatively broad metatarsals and phalanges. trigonobrachycephaly, bulbous bifid nose, macrostomia, micrognathia, acral anomalies, and hypotonia trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet trigonocephaly - bifid nose - acral anomalies trigonocephaly-bifid nose-acral anomalies syndrome MONDO:0010155 Chanarin-Dorfman syndrome NLSDI neutral lipid storage disease with ichthyosis CDS Chanarin-Dorfman disease DCs Dorfman Chanarin syndrome Dorfman-Chanarin syndrome disorder of cornification 12 (neutral lipid storage type) ichthyosiform erythroderma with leukocyte vacuolation ichthyotic neutral Lipid storage disease neutral Lipid storage disease with ichthyosis neutral lipid storage disease with ichthyotic triglyceride storage disease with impaired long-chain fatty acid oxidation Dorfman-Chanarin disease MONDO:0010156 Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin. SPG20 Troyer syndrome autosomal recessive spastic paraplegia 20 autosomal recessive spastic paraplegia Troyer type autosomal recessive spastic paraplegia type 20 childhood-onset spastic paraparesis with distal muscle wasting childhood-onset spastic paraparesis-distal muscle wasting syndrome hereditary spastic paraplegia 20 spastic paraplegia 20 (Troyer syndrome) spastic paraplegia type 20 Cross-McKusick syndrome spastic paraparesis, childhood-onset, with distal muscle wasting spastic paraplegia 20 spastic paraplegia 20, autosomal recessive spastic paraplegia, autosomal recessive, Troyer type Troyer syndrome https://rarediseases.info.nih.gov/diseases/5372/troyer-syndrome MONDO:0010157 Tryptophanuria with dwarfism Tryptophanuria with dwarfism https://rarediseases.info.nih.gov/diseases/4268/tryptophanuria-with-dwarfism MONDO:0010158 T-substance anomaly T-substance anomaly MONDO:0010159 A rare childhood cancer predisposition syndrome caused by biallelic inheritance of mutations in MLH1, MSH2, MSH6, or PMS2 genes. It is characterized by the development of childhood cancers, usually hematological malignancies and/or brain tumors, and colorectal cancers with multiple intestinal polyps. The majority of patients show signs of neurofibromatosis type 1. BTP1 syndrome CMMR-D CMMR-D syndrome MMRCS1 brain tumor-polyposis syndrome 1 constitutional MIS-match repair deficiency syndrome constitutional mismatch repair deficiency syndrome mismatch repair cancer syndrome 1 CNS tumors with familial polyposis of the colon MMR deficiency MMRCS Turcot syndrome brain tumor-polyposis syndrome childhood cancer syndrome glioma-polyposis syndrome malignant tumors of the central nervous system associated with familial polyposis of the colon mismatch repair cancer syndrome mismatch repair deficiency mismatch repair cancer syndrome 1 MONDO:0010160 Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit. https://github.com/monarch-initiative/mondo/issues/4985 Richner-Hanhart syndrome keratosis palmoplantaris-corneal dystrophy syndrome oculocutaneous tyrosinemia tyrosinemia due to TAT deficiency tyrosinemia due to tyrosine aminotransferase deficiency tyrosinemia type II Oregon type tyrosinemia Richner Hanhart syndrome TYRSN2 Tat deficiency Tyrosinosis oculocutaneous type Tyrosinosis, oculocutaneous type keratosis palmoplantaris with corneal dystrophy tyrosine aminotransferase deficiency tyrosine transaminase deficiency tyrosinemia type 2 tyrosinemia, type 2 tyrosinemia, type II tyrosinemia type II https://rarediseases.info.nih.gov/diseases/3105/tyrosinemia-type-2 MONDO:0010161 Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone. https://github.com/monarch-initiative/mondo/issues/4985 FAH deficiency fumarylacetoacetase deficiency fumarylacetoacetate hydrolase deficiency hepatorenal tyrosinemia type I tyrosinemia tyrosinemia type I Fah deficiency TYRSN1 tyrosinemia type 1 tyrosinemia, type 1 tyrosinemia, type I tyrosinemia type I https://rarediseases.info.nih.gov/diseases/2658/tyrosinemia-type-1 MONDO:0010162 Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate. https://github.com/monarch-initiative/mondo/issues/4985 tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency tyrosinemia due to HPD deficiency tyrosinemia type III 4-Hydroxyphenylpyruvate dioxygenase deficiency 4-Hydroxyphenylpyruvic acid oxidase deficiency 4-alpha hydroxyphenylpyruvate dioxygenase deficiency 4-alpha hydroxyphenylpyruvic acid oxidase deficiency TYRSN3 tyrosinemia type 3 tyrosinemia, type 3 tyrosinemia, type III tyrosinemia type III https://rarediseases.info.nih.gov/diseases/10332/tyrosinemia-type-3 MONDO:0010163 Tyrosinosis Tyrosinosis MONDO:0010164 Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder. https://github.com/monarch-initiative/mondo/issues/4948 Al Awadi-Raas-Rothschild syndrome aplasia/hypoplasia of limbs and pelvis congenital absence of ulna and fibula severe limb deficit AARRS Al Awadi Teebi Farag syndrome Al-Awadi-Raas-Rothschild syndrome Al-Awadi/Raas-Rothschild syndrome Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome Schinzel phocomelia syndrome Teebi Naguib Al Awadi syndrome absence of ulna and fibula with severe limb deficiency limb/pelvis-hypoplasia/aplasia syndrome profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence ulna and fibula absence of with severe limb deficiency ulna and fibula, absence of, with severe limb deficiency phocomelia, Schinzel type MONDO:0010165 Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation. bilateral ulnar hypoplasia and intellectual disability bilateral ulnar hypoplasia and mental retardation mesomelia of the upper limbs, absent nails, clubfeet, and intellectual disability mesomelia of the upper limbs, absent nails, clubfeet, and mental retardation mesomelia of the upper limbs, anonychia congenita, clubfeet, and intellectual disability mesomelia of the upper limbs, anonychia congenita, clubfeet, and mental retardation ulna hypoplasia with intellectual disability ulna hypoplasia with mental retardation ulnar hypoplasia with intellectual disability ulnar hypoplasia with mental retardation ulna hypoplasia-intellectual disability syndrome MONDO:0010166 ulnar agenesis and endocardial fibroelastosis ulnar agenesis and endocardial fibroelastosis MONDO:0010167 Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date. https://github.com/monarch-initiative/mondo/issues/4985 urocanic aciduria (disease) encephalopathy due to urocanase deficiency urocanic aciduria urocanic aciduria (disease) UROCD urocanase deficiency urocanic aciduria MONDO:0010168 A syndrome characterized by congenital, bilateral, severe sensorineural hearing loss, abnormalities in the vestibular system, and adolescent-onset retinitis pigmentosa. US1 USH1 Usher syndrome type 1 Usher syndrome, type 1 retinitis pigmentosa and congenital deafness USH1A USHER syndrome, type I Usher syndrome, type 1A Usher syndrome, type 1B Usher syndrome, type I, French variety Usher syndrome, type I, French variety, formerly Usher syndrome, type Ia Usher syndrome, type Ia, formerly Usher syndrome type 1 MONDO:0010169 Any Usher syndrome in which the cause of the disease is a mutation in the USH2A gene. https://github.com/monarch-initiative/mondo/issues/4521 USH2A USH2A Usher syndrome Usher syndrome caused by mutation in USH2A Usher syndrome type 2A Usher syndrome type IIA retinal disease in usher syndrome type IIA, modifier of US2 USHER syndrome, type IIA Usher syndrome, type 2A Usher syndrome type 2A MONDO:0010170 Any Usher syndrome in which the cause of the disease is a mutation in the CLRN1 gene. CLRN1 Usher syndrome USH3A Usher syndrome caused by mutation in CLRN1 Usher syndrome type 3A Usher syndrome type IIIA USHER syndrome, type IIIA Usher syndrome, type 3 Usher syndrome, type 3A Usher syndrome type 3A MONDO:0010171 A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding harmonin on chromosome 11p15. It is inherited in an autosomal recessive manner. USH1C Usher syndrome type 1C Usher syndrome type I Acadian variety Usher syndrome type IC USHER syndrome, type IC Usher syndrome, Acadian variety Usher syndrome, type 1C Usher syndrome, type I, Acadian variety Usher syndrome type 1C https://rarediseases.info.nih.gov/diseases/5437/usher-syndrome-type-1c MONDO:0010172 VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association. Sujansky-Leonard syndrome VACTERL association with hydrocephalus VACTERL association with hydrocephaly VACTERL hydrocephaly VACTERL-H Vater association with hydrocephalus Vater association with macrocephaly and ventriculomegaly vertebral (V), anal (A), cardiac (C), tracheoesophageal (te), renal (R) and limb (L) anomalies and hydrocephaly VACTERL with hydrocephalus MONDO:0010173 Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome, is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females. MRKH syndrome type 1 Rokitansky sequence congenital absence of uterus and vagina MRKH anomaly MRKH syndrome Mayer-Rokitansky-KUSTER-Hauser syndrome Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) Mayer-Rokitansky-Küster-Hauser syndrome type 1 Mrk anomaly Mullerian aplasia/dysgenesis Mullerian dysgenesis Müllerian agenesis Rokitansky syndrome Von Mayer-Rokitansky-Kuster anomaly congenital absence of the uterus and vagina (CAUV) genital renal ear syndrome urogenital adysplasia uterus Bipartitus solidus Rudimentarius cum vagina Solida Mayer-Rokitansky-Kuster-Hauser syndrome type 1 https://rarediseases.info.nih.gov/diseases/7100/mullerian-aplasia MONDO:0010174 Valinemia is a very rare metabolic disorder characterized by abnormally high levels of the amino acid valine in the blood and urine.Infants with valinemia reportedly experience lack of appetite, vomiting, and failure to thrive. In some cases, the condition may be life-threatening. Low muscle tone (hypotonia), excessive drowsiness, hyperactivity, and developmental delay have also been reported. Valinemia is caused by a deficiency of the enzymevaline transaminase, which is needed for the breakdown (metabolism) of valine in the body. It is inherited in an autosomal recessive manner, although the gene responsible for the condition is not yet known. Treatment includes adiet low in valine (introduced during early infancy) which usually improves symptoms and brings valine levels to normal. Valinemia hypervalinemia valine transaminase deficiency Valinemia https://rarediseases.info.nih.gov/diseases/7845/valinemia MONDO:0010175 van Bogaert-Hozay syndrome A familial form of acro-osteolysis associated with a mild intellectual disability, skin atrophy, facial dysmorphism, and ocular defects A familial form of acro-osteolysis associated with a mild mental retardation, skin atrophy, facial dysmorphism, and ocular defects Hozay's syndrome Hozay’s syndrome acro-osteolysis-facial dysplasia syndrome van Bogaert-Hozay syndrome https://rarediseases.info.nih.gov/diseases/8415/van-bogaert-hozay-syndrome MONDO:0010176 Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly. https://github.com/monarch-initiative/mondo/issues/5588 Joubert syndrome with oral-facial-digital syndrome Joubert syndrome with orofaciodigital defect OFD6 Varadi syndrome Varadi-Papp syndrome oral-facial-digital syndrome type 6 orofaciodigital syndrome VI orofaciodigital syndrome type 6 polydactyly-cleft lip/palate-psychomotor retardation syndrome Ofds 6 Váradi syndrome Váradi-Papp syndrome oral-Facial-digital syndrome, type 6 orofaciodigital syndrome 6 polydactyly - cleft lip/palate - psychomotor retardation polydactyly cleft lip palate psychomotor retardation polydactyly, cleft Lip/palate or lingual lump, and psychomotor retardation orofaciodigital syndrome type 6 https://rarediseases.info.nih.gov/diseases/4412/polydactyly-cleft-lip-palate-psychomotor-retardation MONDO:0010177 A syndrome characterized by progressive hyalinosis involving capillaries and often arterioles and small veins of the digestive tract, kidneys, and idiopathic cerebral calcifications. It has been described in three sisters born to non-consanguineous parents. All three patients also had poikilodermia and greying hair, as well as severe diarrhoea, rectal bleeding, malabsorption and subarachnoid hemorrhage. https://github.com/monarch-initiative/mondo/issues/3607 Rambaud-Gallian syndrome Rambaud-Gallian-Touchard syndrome retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome vascular hyalinosis digestive tract and renal small vessel hyalinosis, intracerebral calcifications, retinal ischemic syndrome and phenotypic a vascular hyalinosis MONDO:0010178 An autosomal recessive disorder that is associated with mutation(s) in the CFTR gene, encoding cystic fibrosis transmembrane conductance regulator. Mutation(s) in the same gene are associated with cystic fibrosis. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 congenital bilateral absence of vas deferens congenital bilateral aplasia of the vas deferens vas deferens, congenital bilateral aplasia of CAVD CBAVD congenital bilateral aplasia of vas deferens from CFTR mutation MONDO:0010179 Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy. Irvh hypoplasia of the right ventricle isolated hypoplasia of the right ventricle right ventricle hypoplasia right ventricular hypoplasia right ventricular hypoplasia, isolated isolated right ventricular hypoplasia MONDO:0010180 Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine. Jarcho-Levin syndrome spondylocostal dysostosis, autosomal recessive SCDO1 costovertebral dysplasia spondylocostal dysostosis 1, autosomal recessive autosomal recessive spondylocostal dysostosis MONDO:0010181 Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction. visceral myopathy-familial external ophthalmoplegia syndrome familial visceral myopathy with external ophthalmoplegia intestinal pseudoobstruction with external ophthalmoplegia muscular dystrophy, oculogastrointestinal visceral myopathy - familial external ophthalmoplegia visceral myopathy, familial, with external ophthalmoplegia oculogastrointestinal muscular dystrophy MONDO:0010182 hypercarotenemia and vitamin A deficiency, autosomal recessive hypercarotenemia and vitamin A deficiency, autosomal recessive MONDO:0010183 A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. The disorder is caused by mutations in the LMBRD1 gene (6q13) and is transmitted in an autosomal recessive manner. cblF defect cobalamin F defect cobalamin F deficiency combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF inherited methylmalonic acidemia and homocystinuria lysosomal membrane cobalamin transporter deficiency methylmalonic aciduria and homocystinuria type cblF methylmalonic aciduria with homocystinuria, type cblF MAHCF cblF methylmalonic acidemia and homocystinuria cobalamin F disease cobalamin locus f variant cobalamin, defect in lysosomal release of methylmalonic acidemia and homocystinuria, cblF type methylmalonic acidemia with homocystinuria type cblF methylmalonic aciduria and homocystinuria, cblF type methylmalonic aciduria due to vitamin B12-release defect vitamin B12 lysosomal release defect vitamin B12 storage disease Editor note: TODO - relevant annotation from GO methylmalonic aciduria and homocystinuria type cblF MONDO:0010184 A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner. cblC defect cobalamin C defect cobalamin C deficiency cobalamin c disease combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC methylmalonic aciduria and homocystinuria type cblC methylmalonic aciduria with homocystinuria, type cblC MAHCC cblC cblC - cobalamin locus c cblC methylmalonic acidemia and homocystinuria cobalamin locus c variant methylmalonic acidemia and homocystinuria cblC methylmalonic acidemia and homocystinuria, cblC type methylmalonic acidemia with homocystinuria type cblC methylmalonic acidemia with homocystinuria, type cblC methylmalonic aciduria and homocystinuria cblC methylmalonic aciduria and homocystinuria, cblC type methylmalonic aciduria and homocystinuria, cblC type, digenic methylmalonic aciduria and homocystinuria, vitamin B12-responsive vitamin B12 metabolic defect with combined deficiency of methylmalonyl-Coa mutase and homocysteine:methyltetrahydrofolate methyltransferase methylmalonic aciduria and homocystinuria type cblC MONDO:0010185 A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations. cblD defect cobalamin D defect cobalamin D deficiency cobalamin d disease combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD methylmalonic aciduria and homocystinuria type cblD methylmalonic aciduria with homocystinuria, type cblD MAHCD Mehtylmalonic acidemia with homocystinuria cbI d cblD - cobalamin locus d cblD methylmalonic acidemia and homocystinuria homocystinuria, cblD type, variant 1 homocystinuria, cblD type, variant 1, included m0e.321 cobalamin locus d variant methylmalonic acidemia and homocystinuria, cblD type methylmalonic acidemia with homocystinuria type cblD methylmalonic acidemia with homocystinuria, type cblD methylmalonic acidemia, Cblh type methylmalonic acidemia, Cblh type, formerly methylmalonic aciduria and homocystinuria, cblD type methylmalonic aciduria, Cblh type methylmalonic aciduria, Cblh type, formerly methylmalonic aciduria, cblD type, variant 2 methylmalonic aciduria, cblD type, variant 2, included methylmalonic aciduria and homocystinuria type cblD MONDO:0010186 Rickets caused by a defect in the VDR gene, encoding the vitamin D receptor. This form of rickets is characterized by hypocalcemia, elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations and may also manifest with alopecia. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 VDR vitamin D-dependent rickets, type 2 hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor with alopecia rickets, vitamin D-resistant, type IIA vitamin D dependent rickets 2a vitamin D receptor deficiency rickets vitamin D-dependent rickets, type 2 caused by mutation in VDR vitamin D-dependent rickets, type 2A vitamin d-dependent rickets type II with alopecia Pddr 2A Pseudovitamin D-deficiency, type 2A VDDR2A generalized resistance to 1,25-dihydroxyvitamin D hypocalcemic vitamin D-resistant rickets rickets, hereditary vitamin D-resistant rickets-alopecia syndrome vitamin D-dependent rickets, type 2A, with or without alopecia vitamin D-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol vitamin D-dependent rickets, type 2A MONDO:0010187 Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z. GGCX congenital vitamin K-dependent coagulation factors combined deficiency congenital vitamin K-dependent coagulation factors combined deficiency caused by mutation in GGCX hereditary combined deficiency of factors II, VII, IX and X vitamin K-dependent clotting factors, combined deficiency of, type 1 FMFD 3 VKCFD1 Vkcfd factors II, VII, IX, and X, combined deficiency of familial multiple coagulation Factor deficiency 3 glutamic acid, deficient gamma-carboxylation of hereditary combined deficiency of vitamin K-dependent clotting factors multiple coagulation Factor deficiency 3 vitamin K-dependent clotting factors, combined deficiency of, 1 vitamin K-dependent coagulation defect vitamin K-dependent clotting factors, combined deficiency of, type 1 MONDO:0010188 Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E. AVED Friedreich-like ataxia ataxia with isolated vitamin E deficiency familial isolated deficiency of vitamin type E familial isolated vitamin E deficiency isolated vitamin E deficiency Friedreich-like ataxia with selective vitamin E deficiency VED ataxia with vitamin E deficiency ataxia, Friedreich-like, with selective vitamin E deficiency vitamin E, familial isolated deficiency OF familial isolated deficiency of vitamin E MONDO:0010189 vitiligo, progressive, with intellectual disability and urethral duplication vitiligo, progressive, with mental retardation and urethral duplication vitiligo, progressive, with intellectual disability and urethral duplication MONDO:0010190 TSEN54 pontocerebellar hypoplasia type 2 pontocerebellar hypoplasia type 2 caused by mutation in TSEN54 PCH2A Pch2 Volendam neurodegenerative disease microcephaly pontocerebellar hypoplasia dyskinesia pontocerebellar hypoplasia with progressive cerebral atrophy pontocerebellar hypoplasia, type 2A pontocerebellar hypoplasia type 2A https://rarediseases.info.nih.gov/diseases/3631/microcephaly-pontocerebellar-hypoplasia-dyskinesia MONDO:0010191 Type 3 von Willebrand disease (type 3 VWD) is the most severe form of VWD characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (von Willebrand factor; VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII). VWD type 3 VWD3 von Willebrand disease 3 von Willebrand disease type 3 von Willebrand disease type III von Willebrand's disease 3 von Willebrand's disease type 3 VON WILLEBRAND disease, type 3 VWD, type 3 Von Willebrand disease, type 3 von Willebrand disease 3 MONDO:0010192 A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDNRB. EDNRB Waardenburg syndrome WS4A Waardenburg syndrome caused by mutation in EDNRB Waardenburg syndrome type 4A Waardenburg syndrome type IVA Waardenburg syndrome with Hirschsprung disease type 4A Shah-Waardenburg syndrome Waardenburg syndrome with Hirschsprung disease, type 4A Waardenburg syndrome, type 4A Waardenburg-Shah syndrome Ws4 Waardenburg syndrome type 4A MONDO:0010193 Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry. https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5588 WEAVER-like syndrome Weaver syndrome camptodactyly-overgrowth-unusual facies syndrome EZH2 related overgrowth WEAVER syndrome WVS Weaver Smith syndrome Weaver Williams syndrome Weaver like syndrome Weaver-Smith syndrome Weaver-like syndrome camptodactyly - overgrowth - unusual facies intellectual disability, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate mental retardation, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly Weaver syndrome MONDO:0010194 Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the ADAMTS10 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 ADAMTS10 Weill-Marchesani syndrome Weill-Marchesani syndrome 1 Weill-Marchesani syndrome 1, recessive Weill-Marchesani syndrome caused by mutation in ADAMTS10 Weill-Marchesani syndrome type 1 WMS1 Weill-Marchesani syndrome, autosomal recessive mesodermal Dysmorphodystrophy, congenital spherophakia-brachymorphia syndrome Weill-Marchesani syndrome 1 MONDO:0010196 A rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders. https://github.com/monarch-initiative/mondo/issues/5682 WS Werner syndrome Werner's syndrome adult premature ageing syndrome adult progeria WRN Werner syndrome MONDO:0010197 whistling face syndrome, recessive form whistling face syndrome, recessive form https://rarediseases.info.nih.gov/diseases/10024/whistling-face-syndrome-recessive-form MONDO:0010198 Wernicke-Korsakoff syndrome is a brain disorder, due to thiamine deficiency that has been associated with both Wernicke's encephalopathy and Korsakoff syndrome. The term refers to two different syndromes, each representing a different stage of the disease. Wernicke's encephalopathy represents the 'acute' phase and Korsakoff's syndrome represents the 'chronic' phase. However, they are used interchangeable in many sites. Wernicke's encephalopathy is characterized by confusion, abnormal stance and gait (ataxia), and abnormal eye movements (nystagmus). Korsakoff's syndrome is observed in a small number of patients. It is a type of dementia, characterized by memory loss and confabulation (filling in of memory gaps with data the patient can readily recall) and involvement of the heart, vascular, and nervous system. Wernicke-Korsakoff syndrome mainly results from chronic alcohol use, but also from dietary deficiencies, prolonged vomiting, eating disorders, systemic diseases (cancer, AIDS, infections), bariatric surgery, transplants, or the effects of chemotherapy. Studies indicate that there may be some genetic predisposition for the disease.Treatment involves supplementing the diet with thiamine. Wernicke encephalopathy is an acute syndrome and requires emergency treatment to prevent death and neurologic complications. In cases where the diagnosis is not confirmed, patients should still be treated while additional evaluations are completed. Korsakoff syndrome Korsakoff's psychosis Korsakoff's syndrome Korsakov psychosis Korsakov's psychosis Wernicke-Korsakoff syndrome Wernicke encephalopathy alcohol-induced encephalopathy transketolase defect Editor note: todo check Wernicke-Korsakoff syndrome https://rarediseases.info.nih.gov/diseases/6843/wernicke-korsakoff-syndrome MONDO:0010199 White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980. white forelock with malformations white forelock with malformations https://rarediseases.info.nih.gov/diseases/10081/white-forelock-with-malformations MONDO:0010200 A very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body. Westphal pseudosclerosis Westphal-Strumpell syndrome Wilson disease Wilson's disease cerebral pseudosclerosis hepatolenticular degeneration WD Wnd hepatolenticular Degeneration Wilson disease https://rarediseases.info.nih.gov/diseases/7893/wilson-disease MONDO:0010201 https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5784 WNCHRS Winchester syndrome Winchester-Grossman syndrome Al-Qeel Sewairi syndrome NOA syndrome Torg Winchester syndrome multicentric osteolysis, nodulosis and arthropathy nodulosis arthropathy osteolysis syndrome Editor note: check relationship to parent Winchester syndrome MONDO:0010203 Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias. https://github.com/monarch-initiative/mondo/issues/5588 Wolff-Zimmermann syndrome WOLFF intellectual disability syndrome WOLFF mental retardation syndrome intellectual disability, Wolff type MONDO:0010204 Lysosomal acid lipase deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease, or 2) a less severe form, cholesteryl ester storage disease, of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis. LAL deficiency lysosomal acid lipase deficiency Wolman disease cholesterol ester hydrolase deficiency cholesteryl ester storage disease lipa deficiency lysosomal and lipase deficiency lysosomal acid lipase deficiency MONDO:0010205 https://github.com/monarch-initiative/mondo/issues/5903 2023-05-01 Wolman disease with hypolipoproteinemia and acanthocytosis Reason: terms merged in OMIM. This will be merged with MONDO:0019148 Wolman disease Wolman disease with hypolipoproteinemia and acanthocytosis MONDO:0010206 Any hypotrichosis in which the cause of the disease is a mutation in the LPAR6 gene. HYPT8 LAH3 LPAR6 hypotrichosis hypotrichosis 8 hypotrichosis caused by mutation in LPAR6 hypotrichosis type 8 hypotrichosis, localized, autosomal recessive 3 woolly hair, autosomal recessive 1, with or without hypotrichosis hypotrichosis 8 MONDO:0010207 Salamon syndrome wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome woolly hair hypotrichosis everted lower lip and outstanding ears woolly hair, hypotrichosis, everted LOWER LIP, and outstanding ears woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome MONDO:0010208 A type of cutis laxa that is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism). https://github.com/monarch-initiative/mondo/issues/4948 WSS wrinkled skin syndrome wrinkly skin syndrome wrinkly skin syndrome MONDO:0010209 A rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer. XDH deficiency XO deficiency XOR deficiency xanthine dehydrogenase deficiency xanthine oxidase deficiency xanthine oxidoreductase deficiency XAN1 isolated xanthine oxidase deficiency xanthinuria type 1 xanthinuria type I xanthinuria, type 1 xanthinuria, type I hereditary xanthinuria, type I type 1 xanthinuria xanthinuria type I MONDO:0010210 Any xeroderma pigmentosum in which the cause of the disease is a mutation in the XPA gene. https://github.com/monarch-initiative/mondo/issues/4521 XP group A XP-A XP1 XPA XPA xeroderma pigmentosum xeroderma pigmentosum 1 xeroderma pigmentosum caused by mutation in XPA xeroderma pigmentosum complementation group A xeroderma pigmentosum group A xeroderma pigmentosum group type A xeroderma pigmentosum, complementation group type a xeroderma pigmentosum, group A XP, group A xeroderma pigmentosum, complementation group A xeroderma pigmentosum, type 1 xeroderma pigmentosum group A MONDO:0010211 An autosomal recessive inherited disorder caused by mutations in the XPC gene. This disease is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age and is caused by a defect in nucleotide excision repair. https://github.com/monarch-initiative/mondo/issues/4521 XP group C XP-C XP3 XPC XPCC xeroderma pigmentosum III xeroderma pigmentosum group C xeroderma pigmentosum group type C xeroderma pigmentosum, complementation group type C xeroderma pigmentosum, group C XP, Group C xeroderma pigmentosum 3 xeroderma pigmentosum, complementation group C xeroderma pigmentosum, type 3 xeroderma pigmentosum group C MONDO:0010212 Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC2 gene. https://github.com/monarch-initiative/mondo/issues/4521 ERCC2 xeroderma pigmentosum XP group D XP group H XP-D XP4 XP8 XPD XPDC XPH xeroderma pigmentosum IV xeroderma pigmentosum VIII xeroderma pigmentosum caused by mutation in ERCC2 xeroderma pigmentosum group D xeroderma pigmentosum group type D xeroderma pigmentosum, complementation group type D xeroderma pigmentosum, group D XP, Group D XP, Group H XP, Group H, formerly XP4 xeroderma pigmentosum VIII XP4 xeroderma pigmentosum VIII, formerly xeroderma pigmentosum 4 xeroderma pigmentosum, complementation group D xeroderma pigmentosum group D MONDO:0010213 An autosomal recessive genetic disorder caused by mutations in the DDB2 gene. This disease exhibits the mildest degree of sun sensitivity of all xeroderma pigmentosum complementation groups, although individuals are at high risk for skin cancer. https://github.com/monarch-initiative/mondo/issues/4521 XP group E XP-E XP5 XPE xeroderma pigmentosum V xeroderma pigmentosum group E xeroderma pigmentosum group type E xeroderma pigmentosum, complementation group type E xeroderma pigmentosum, group E, DDB-negative subtype XP, Group E XPe xeroderma pigmentosum 5 xeroderma pigmentosum, complementation group E xeroderma pigmentosum, type 5 xeroderma pigmentosum group E MONDO:0010214 Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer. XPV photosensitivity with defective DNA synthesis xeroderma pigmentosum variant type xeroderma pigmentosum with normal DNA repair rates xeroderma pigmentosum variant xeroderma pigmentosum, variant type xeroderma pigmentosum variant type https://rarediseases.info.nih.gov/diseases/5630/xeroderma-pigmentosum-variant-type MONDO:0010215 Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC4 gene. https://github.com/monarch-initiative/mondo/issues/4521 ERCC4 xeroderma pigmentosum XP group F XP, group F XP-F XP6 XPF xeroderma pigmentosum VI xeroderma pigmentosum caused by mutation in ERCC4 xeroderma pigmentosum group F xeroderma pigmentosum group type F xeroderma pigmentosum, complementation group type F xeroderma pigmentosum, group F xeroderma pigmentosum 6 xeroderma pigmentosum, complementation group F xeroderma pigmentosum, type 6 xeroderma pigmentosum, type F/Cockayne syndrome xeroderma pigmentosum group F MONDO:0010216 Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC5 gene. https://github.com/monarch-initiative/mondo/issues/4521 ERCC5 xeroderma pigmentosum XP group G XP-G XP7 XPG xeroderma pigmentosum VII xeroderma pigmentosum caused by mutation in ERCC5 xeroderma pigmentosum group G xeroderma pigmentosum group type G xeroderma pigmentosum, complementation group type G xeroderma pigmentosum, group G xeroderma pigmentosum, group G/Cockayne syndrome XP, Group G xeroderma pigmentosum 7 xeroderma pigmentosum complementation group G xeroderma pigmentosum type 7 xeroderma pigmentosum, complementation group G xeroderma pigmentosum, type G/Cockayne syndrome placement based on OMIM phenotypic series 214150. xeroderma pigmentosum group G MONDO:0010217 A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities. de Sanctis-Cacchione syndrome xerodermic idiocy de Sanctis-Cacchione syndrome https://rarediseases.info.nih.gov/diseases/8276/de-sanctis-cacchione-syndrome MONDO:0010218 https://github.com/monarch-initiative/mondo/issues/4521 46,XX Sex reversal type 2 46,XX sex reversal 2 46XX sex reversal 2 46,XX SEX reversal 2 SRXX2 chromosome 17Q24 Duplication syndrome 46,XX sex reversal 2 MONDO:0010219 xylosidase deficiency xylosidase deficiency MONDO:0010220 Young syndrome is characterised by the association of obstructive azoospermia with recurrent sinobronchial infections. azoospermia-sinopulmonary infections syndrome young syndrome Barry Perkins Young syndrome Barry-Perkins-Young syndrome azoospermia obstructive and chronic sinopulmonary infections azoospermia, obstructive, and chronic sinopulmonary infections sinusitis-infertility syndrome Young syndrome https://rarediseases.info.nih.gov/diseases/341/young-syndrome MONDO:0010221 CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. CHIME syndrome PIGL-CDG Zunich-Kaye syndrome coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome congenital disorder of glycosylation due to PIGL deficiency neuroectodermal dysplasia, CHIME type neuroectodermal syndrome, Zunich type CHIME Zunich neuroectodermal syndrome coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, and ear anomalies syndrome coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome glycosylphosphatidylinositol biosynthesis defect 5 CHIME syndrome MONDO:0010222 X-linked form of Opitz G/BBB syndrome. https://github.com/monarch-initiative/mondo/issues/4521 Opitz G/BBB syndrome, X-linked Opitz GBBB syndrome, type I, X-linked recessive X-linked Opitz BBB/G syndrome X-linked Opitz G/BBB syndrome X-linked Opitz syndrome XLOS GBBB1 Opitz Bbbg syndrome, type 1 Opitz GBBB syndrome, X-linked Opitz GBBB syndrome, type 1 Opitz GBBB syndrome, type I Opitz syndrome Opitz syndrome, X-linked Opitz-G syndrome, type 1 hypertelorism with esophageal Abnormality and hypospadias hypertelorism-hypospadias syndrome telecanthus-hypospadias syndrome X-linked Opitz G/BBB syndrome MONDO:0010223 ichthyosis, X-linked, without steroid sulfatase deficiency ichthyosis, X-linked, without steroid sulfatase deficiency MONDO:0010224 Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (large eyes, prominent supraorbital ridges, synophris) and optic atrophy have been observed. ACC-abnormal genitalia syndrome Proud syndrome Proud-Levine-Carpenter syndrome microcephaly-corpus callosum agenesis-abnormal genitalia syndrome ACC with abnormal genitalia New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum Proud Levine Carpenter syndrome corpus callosum, agenesis of, with abnormal genitalia corpus callosum agenesis-abnormal genitalia syndrome MONDO:0010225 Dent disease type 1 is a type of Dent disease with predominantly renal manifestations. https://github.com/monarch-initiative/mondo/issues/4521 CLCN5 Dent disease Dent disease caused by mutation in CLCN5 Dent disease type 1 dent disease 1, X-linked recessive nephrolithiasis type 1 DENT disease 1 nephrolithiasis 2 nephrolithiasis, hypercalciuric, X-linked urolithiasis, hypercalciuric, X-linked Dent disease type 1 MONDO:0010226 https://github.com/monarch-initiative/mondo/issues/4521 46,XY Sex reversal type 2 46,XY sex reversal 2 46XY sex reversal 2, dosage-sensitive 46,XY SEX reversal 2 46,XY Sex reversal, Dax1-related SRXY2 dosage-sensitive Sex reversal 46,XY sex reversal 2 MONDO:0010227 Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPGR gene. RP3 RPGR retinitis pigmentosa retinitis pigmentosa 3 retinitis pigmentosa caused by mutation in RPGR retinitis pigmentosa type 3 Choroidoretinal Degeneration with retinal reflex in heterozygous Women cone-rod Degeneration, X-linked retinitis pigmentosa 15 retinitis pigmentosa 3 MONDO:0010228 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNX3 deafness X-linked, DFN3 deafness, X-linked 3 deafness, X-linked 4, congenital sensorineural hearing loss, X-linked 3 MONDO:0010229 A congenital condition characterized by the absence of hair on the scalp or entire body. The lack of hair is rarely absolute and is usually accompanied by incompletely grown, lanugo-like hair. It affects males twice as much as females and a familial tendency is common. alopecia, congenital congenital alopecia ALPC alopecia, congenital MONDO:0010230 MRX23 intellectual disability, X-linked 23 mental retardation, X-linked 23 intellectual disability, X-linked 23 MONDO:0010231 MRX20 intellectual disability, X-linked 20 mental retardation, X-linked 20 intellectual disability, X-linked 20 MONDO:0010232 Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic). When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic (unknown cause) intestinal pseudo-obstruction. The disorder can also develop as a complication of another medical condition; in these cases, it is called secondary intestinal pseudo-obstruction. Individuals with this condition have symptoms that resemble those of an intestinal blockage (obstruction) but without any obstruction. It may be acute or chronic and is characterized by the presence of dilation of the bowel on imaging. The causes may be unknown or due to alterations (mutations) in the FLNA gene, other genes or are secondary to other conditions. It may be inherited in some cases. Intestinal pseudoobstruction neuronal chronic idiopathic X-linked is caused by alterations (mutations) in the FLNA gene which is located in the X chromosome. There is no specific treatment but several medications and procedures may be used to treat the symptoms. https://github.com/monarch-initiative/mondo/issues/4521 congenital short bowel syndrome, X-linked recessive intestinal pseudoobstruction, neuronal, X-linked recessive intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked CIIP CIIP X-linked CIIPX Ciip, X-linked Ipox congenital idiopathic intestinal pseudoobstruction congenital short bowel syndrome, X-linked intestinal pseudoobstruction neuronal chronic idiopathic X-linked intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked https://rarediseases.info.nih.gov/diseases/3017/intestinal-pseudoobstruction-neuronal-chronic-idiopathic-x-linked MONDO:0010233 https://github.com/monarch-initiative/mondo/issues/4521 heterotopia, periventricular, 1, X-linked dominant heterotopia, periventricular, Ehlers-Danlos variant heterotopia, periventricular, X-linked dominant BPNH NHBP PVNH1 X-linked periventricular heterotopia bilateral periventricular nodular heterotopia heterotopia familial nodular heterotopia periventricular X-linked dominant heterotopia, familial nodular heterotopia, periventricular nodular, with Frontometaphyseal dysplasia nodular heterotopia bilateral periventricular nodular heterotopia, bilateral periventricular periventricular nodular heterotopia 1 periventricular nodular heterotopia 4 periventricular nodular heterotopia 4, formerly heterotopia, periventricular, X-linked dominant MONDO:0010235 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 Lindsay-Burn syndrome MRXS13 PPM-X X-linked intellectual disability 79 X-linked intellectual disability with spasticity X-linked mental retardation 79 X-linked mental retardation with spasticity intellectual developmental disorder, X-linked, syndromic 13, X-linked recessive intellectual disability with psychosis, pyramidal signs, and macroorchidism intellectual disability, X-linked, syndromic 13 intellectual disability, X-linked, syndromic type 13 mental retardation with psychosis, pyramidal signs, and macroorchidism mental retardation, X-linked, syndromic 13 mental retardation, X-linked, syndromic type 13 PPM-X syndrome intellectual deficit, X-linked - psychosis - macroorchidism intellectual disability psychosis macroorchidism intellectual disability, X-linked 16 intellectual disability, X-linked 79 intellectual disability, X-linked, with spasticity mental retardation psychosis macroorchidism mental retardation, X-linked 16 mental retardation, X-linked 79 mental retardation, X-linked, with spasticity X-linked intellectual disability-psychosis-macroorchidism syndrome https://rarediseases.info.nih.gov/diseases/3506/ppm-x-syndrome MONDO:0010236 MRX14 intellectual disability, X-linked 14 intellectual disability, X-linked nonspecific, type 14 mental retardation, X-linked 14 mental retardation, X-linked nonspecific, type 14 intellectual disability, X-linked 14 MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome is characterised by severe intellectual deficit, brachycephaly, plagiocephaly, prominent forehead and coarse facial features. It has been described in two males from one family. Two females belonging to the same family displayed moderate intellectual deficit but no craniofacial dysmorphism. https://github.com/monarch-initiative/mondo/issues/5588 Hyde Forster-McCarthy-Berry syndrome Hyde Forster McCarthy Berry syndrome intellectual disability, X-linked Hyde-Forster type intellectual disability, X-linked, Hyde-Forster type intellectual disability, X-linked, with craniofacial dysmorphism intellectual disability, plagiocephaly, brachycephaly, prominent forehead, and coarse facial features mental retardation, X-linked Hyde-Forster type mental retardation, X-linked, Hyde-Forster type mental retardation, X-linked, with craniofacial dysmorphism mental retardation, plagiocephaly, brachycephaly, prominent forehead, and coarse facial features plagiocephaly and X-linked intellectual disability plagiocephaly and X-linked mental retardation X-linked intellectual disability-plagiocephaly syndrome MONDO:0010238 Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the SMPX gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 SMPX X-linked nonsyndromic deafness X-linked nonsyndromic deafness caused by mutation in SMPX deafness, X-linked 4 deafness, X-linked 4, X-linked dominant deafness, X-linked type 4 deafness, nonsyndromic sensorineural progressive 6 DFNX4 deafness, X-linked 6, progressive hearing loss, X-linked 4 MONDO:0010239 Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterised by intellectual deficiency and seizures that are more severe in male patients. https://github.com/monarch-initiative/mondo/issues/4521 X-linked lissencephaly type 1 lissencephaly type 1 due to doublecortin gene mutation lissencephaly, X-linked lissencephaly, X-linked, type 1 subcortical laminal heterotopia, X-linked Dc syndrome Double cortex syndrome LISX LISX1 X-linked lissencephaly XLIS Xlis lissencephaly X-linked lissencephaly and agenesis of corpus callosum lissencephaly, X-linked, 1 subcortical band heterotopia, X-linked subcortical laminar heterotopia, X-linked subcortical laminar heterotopia, X-linked, lissencephaly type 1 due to doublecortin gene mutation https://rarediseases.info.nih.gov/diseases/6914/lissencephaly-x-linked MONDO:0010241 Any congenital stationary night blindness in which the cause of the disease is a mutation in the CACNA1F gene. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 CACNA1F congenital stationary night blindness CSNB, incomplete, X-linked congenital stationary night blindness 2A X-linked congenital stationary night blindness caused by mutation in CACNA1F congenital stationary night blindness type 2A night blindness, congenital stationary (incomplete), 2A, X-linked CSNB2A night blindness, congenital stationary, type 2 night blindness, congenital stationary, type 2A congenital stationary night blindness 2A MONDO:0010242 fetal akinesia syndrome, X-linked X-linked form of fetal akinesia syndrome fetal akinesia syndrome X-linked polyhydramnios, hypokinesia, brain malformations, telecanthus, and narrow palpebral fissures fetal akinesia syndrome, X-linked https://rarediseases.info.nih.gov/diseases/2293/fetal-akinesia-syndrome-x-linked MONDO:0010243 X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males. https://github.com/monarch-initiative/mondo/issues/4521 Woods Black Norbury syndrome Woods-Black-Norbury syndrome Woods-Black-Norbury syndrome, X-linked dominant X-linked immunoneurological disorder immunoneurologic disorder, X-linked neonatal death immune deficiency X-linked immunoneurologic disorder MONDO:0010244 https://github.com/monarch-initiative/mondo/issues/4521 CGF1 cognitive function 1, social social cognition CGF1 MONDO:0010245 https://github.com/monarch-initiative/mondo/issues/4521 COD2 CORDX2 X-linked cone dystrophy 2 X-linked cone-rod dystrophy type 2 cone dystrophy 2, X-linked cone dystrophy X-linked 2 cone dystrophy, progressive X-linked, 2 cone-rod dystrophy X-linked 2 cone-rod dystrophy, X-linked, 2 X-linked cone-rod dystrophy 2 https://rarediseases.info.nih.gov/diseases/1462/cone-rod-dystrophy-x-linked-2 MONDO:0010246 Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance. https://github.com/monarch-initiative/mondo/issues/4521 DEE9 EFMR EIEE9 Juberg Hellman syndrome Juberg-Hellman syndrome PCDH19 early infantile epileptic encephalopathy developmental and epileptic encephalopathy 9 developmental and epileptic encephalopathy, 9 early infantile epileptic encephalopathy 9 early infantile epileptic encephalopathy caused by mutation in PCDH19 early infantile epileptic encephalopathy type 9 early infantile female-limited epilecptic encephalopathy epileptic encephalopathy, early infantile, 9 epileptic encephalopathy, early infantile, type 9 familial epilepsy and intellectual disability limited to females familial epilepsy and mental retardation limited to females female restricted epilepsy with intellectual disability female restricted epilepsy with mental retardation PCDH19-related FLE PCDH19-related female-limited epilepsy PCDH19-related infantile epileptic encephalopathy epilepsy and intellectual disability limited to females epilepsy and mental retardation limited to females epilepsy, female restricted, with intellectual disability epilepsy, female restricted, with mental retardation epilepsy, female-restricted, with intellectual disability epilepsy, female-restricted, with mental retardation female restricted epilepsy with intellectual deficit developmental and epileptic encephalopathy, 9 MONDO:0010247 A peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency. X-linked cerebral adrenoleukodystrophy ALD ALD childhood cerebral form Addison disease and cerebral sclerosis Siemerling-Creutzfeldt disease adrenoleukodystrophy adrenoleukodystrophy X-linked cerebral form adrenoleukodystrophy childhood cerebral form adrenomyeloneuropathy bronze Schilder disease childhood cerebral ALD childhood-onset cerebral X-linked adrenoleukodystrophy melanodermic leukodystrophy X-linked cerebral adrenoleukodystrophy https://rarediseases.info.nih.gov/diseases/9412/childhood-onset-cerebral-x-linked-adrenoleukodystrophy MONDO:0010248 X-linked form of spondyloepimetaphyseal dysplasia. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 spondyloepimetaphyseal dysplasia, X-linked spondyloepimetaphyseal dysplasia, X-linked, X-linked recessive SEMD X-linked SEMD, X-linked SEMDX spondylo-epimetaphyseal dysplasia spondyloepimetaphyseal dysplasia X-linked X-linked spondyloepimetaphyseal dysplasia https://rarediseases.info.nih.gov/diseases/4979/spondyloepimetaphyseal-dysplasia-x-linked MONDO:0010250 https://github.com/monarch-initiative/mondo/issues/4521 MRX49 intellectual disability, X-linked 49 raynaud-claes syndrome, X-linked dominant intellectual disability, X-linked 15 mental retardation, X-linked 15 mental retardation, X-linked 49 intellectual disability, X-linked 49 MONDO:0010251 https://github.com/monarch-initiative/mondo/issues/4521 MRX50 intellectual developmental disorder, X-linked 50 intellectual disability, X-linked 50 mental retardation, X-linked 50 intellectual disability, X-linked 50 MONDO:0010252 https://github.com/monarch-initiative/mondo/issues/4521 intellectual developmental disorder, X-linked, with isolated growth hormone deficiency intellectual disability, X-linked, with panhypopituitarism intellectual disability, X-linked, with isolated Growth hormone deficiency mental retardation, X-linked, with isolated Growth hormone deficiency mental retardation, X-linked, with panhypopituitarism intellectual disability, X-linked, with panhypopituitarism MONDO:0010253 migraine, familial typical, susceptibility to, 2 migraine, familial typical, susceptibility to, type 2 Mfts Mgr2 migraine with or without aura, susceptibility to, 2 migraine, familial typical, susceptibility to, 2 MONDO:0010255 https://github.com/monarch-initiative/mondo/issues/4521 diabetes mellitus, insulin-dependent, X-linked diabetes mellitus, insulin-dependent, X-linked, susceptibility to Iddmx insulin-dependent diabetes mellitus, X-linked, susceptibility to diabetes mellitus, insulin-dependent, X-linked, susceptibility to MONDO:0010256 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the IL1RAPL1 gene. https://github.com/monarch-initiative/mondo/issues/4521 IL1RAPL1 non-syndromic X-linked intellectual disability intellectual developmental disorder, X-linked 21, X-linked recessive intellectual disability, X-linked 21 intellectual disability, X-linked type 21 mental retardation, X-linked type 21 non-syndromic X-linked intellectual disability caused by mutation in IL1RAPL1 MRX21 intellectual disability, X-linked 34 mental retardation, X-linked 21 mental retardation, X-linked 34 intellectual disability, X-linked 21 MONDO:0010257 HPCX1 prostate cancer, hereditary, X-linked 1 prostate cancer susceptibility, X-linked prostate cancer, hereditary, X-linked 1 MONDO:0010258 MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 MEHMO MEHMO syndrome MEHMO syndrome, X-linked recessive MRXS20 MRXS25 MRXSBRK X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome intellectual disability, X-linked, syndromic 20 intellectual disability, X-linked, syndromic 25 intellectual disability, X-linked, syndromic, Borck type intellectual disability, X-linked, syndromic, Borck type; MRXSBRK intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity mental retardation, X-linked, syndromic, Borck type mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity syndromic X-linked intellectual disability 20 syndromic X-linked intellectual disability 25 syndromic X-linked mental retardation 20 syndromic X-linked mental retardation 25 X-linked MEHMO syndrome mental retardation, X-linked, syndromic 20 mental retardation, X-linked, syndromic 25 MEHMO syndrome MONDO:0010259 A retinitis pigmentosa that has material basis in variation in the chromosome region Xq26-q27. RP24 retinitis pigmentosa 24 retinitis pigmentosa type 24 RP 24 retinitis pigmentosa 24 https://rarediseases.info.nih.gov/diseases/10389/retinitis-pigmentosa-24 MONDO:0010260 https://github.com/monarch-initiative/mondo/issues/4069 ACLLX arthrogryposis, X-linked, type V arthrogryposis, X-linked, type V, formerly arthrogryposis, congenital, LOWER limb, X-linked arthrogryposis, congenital, lower limb, X-linked MONDO:0010261 https://github.com/monarch-initiative/mondo/issues/2999 https://github.com/monarch-initiative/mondo/issues/4521 OFCD syndrome cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome microphthalmia syndromic 2 microphthalmia, syndromic 2 microphthalmia, syndromic 2, X-linked dominant microphthalmia, syndromic type 2 oculofaciocardiodental syndrome ANOP2 (formerly) MAA2 (formerly) MCOPS2 microphthalmia cataracts radiculomegaly and septal heart defects microphthalmia, cataracts, radiculomegaly, and septal heart defects syndromic microphthalmia type 2 microphthalmia, syndromic 2 MONDO:0010262 https://github.com/monarch-initiative/mondo/issues/4069 hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses MONDO:0010263 AMME complex AMME syndrome ATS-MR Alport syndrome, intellectual disability, midface hypoplasia, and elliptocytosis Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis Ats-Mr chromosome Xq22.3 telomeric deletion syndrome Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome MONDO:0010264 A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene, resulting in decreased activity of the nuclear receptor protein DAX1, which may be associated with hypogonadotropic hypogonadism. https://github.com/monarch-initiative/mondo/issues/4521 AHC adrenal hypoplasia congenita X-linked adrenal hypoplasia congenita X-linked congenital adrenal hypoplasia adrenal hypoplasia, congenital, X-linked recessive congenital adrenal hypoplasia AHC with HHG AHC with isolated gonadotropin deficiency Addison disease, X-linked X-linked AHC adrenal hypoplasia, congenital adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism adrenal hypoplasia, congenital, with precocious puberty adrenal insufficiency, progressive, and hypogonadotropic hypogonadism cytomegalic adrenocortical hypoplasia cytomegalic congenital adrenal hypoplasia mineralocorticoid deficiency, isolated X-linked adrenal hypoplasia congenita MONDO:0010265 Simpson-Golabi-Behmel syndrome (SGBS) type 2 is an extremely rare and severe, early-lethal form of SGBS, an overgrowth-multiple anomalies syndrome, characterized by hydrops fetalis, macrocephaly, facial dysmorphism (hypertelorism, low-set, posteriorly angulated ears, short and broad nose with anteverted nares, prominent philtrum, large mouth with thin upper vermilion border, high-arched and cleft palate), short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported. https://github.com/monarch-initiative/mondo/issues/4521 OFD1 Simpson-Golabi-Behmel syndrome SGBS2 Simpson-Golabi-Behmel syndrome caused by mutation in OFD1 Simpson-Golabi-Behmel syndrome, type 2, X-linked recessive lethal variant of Simpson-Golabi-Behmel syndrome Sgbs2 Simpson-Golabi-Behmel syndrome, type 2 Simpson-Golabi-Behmel syndrome type 2 MONDO:0010266 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the TSPAN7 gene. https://github.com/monarch-initiative/mondo/issues/4521 TSPAN7 non-syndromic X-linked intellectual disability intellectual developmental disorder, X-linked 58, X-linked recessive intellectual disability, X-linked 58 intellectual disability, X-linked type 58 mental retardation, X-linked type 58 non-syndromic X-linked intellectual disability caused by mutation in TSPAN7 MRX58 mental retardation, X-linked 58 intellectual disability, X-linked 58 MONDO:0010267 EMWX episodic muscle weakness, X-linked episodic muscle weakness, X-linked MONDO:0010268 X-linked lissencephaly with abnormal genitalia (XLAG) is a severe neurological disorder that only manifests in genotypic males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism. XLAG differs considerably from classical lissencephaly, as the resulting cortical thickness is only 6-7 mm in XLAG, rather than 15-20 mm seen in classical lissencephaly due to mutations of the PAFAH1B1 or DCX genes. In 2002, mutations in the X-linked aristaless-related homeobox gene (ARX ; Xp21.3) were identified in individuals with XLAG and in some of their female relatives. Mouse Arx and human ARX are highly expressed in both dorsal and ventral telencephalon, including the neocortical ventricular zone and germinal zone of the ganglionic eminence, with less intense signals in the subventricular zone, cortical plate, hippocampus, basal ganglia and ventral thalamus. Arx-deficient mice showed deficient tangential migration and abnormal differentiation of GABAergic interneurons in the ganglionic eminence and neocortex, as well as abnormal testicular differentiation. These characteristics include some of the clinical features of XLAG in humans. The ARX mutations in XLAG patients were predominantly premature termination mutations (large deletions, frameshift, nonsense mutations, splice site mutations) while the missense mutations were less common and located essentially in the homeobox domain. Patients carrying nonconservative missense mutations within the homeobox, showed less severe XLAG, while conservative substitution in the homeodomain caused Proud syndrome (ACC with abnormal genitalia). A non conservative missense mutation near the C-terminal aristaless domain caused unusually severe XLAG with microcephaly and mild cerebellar hypoplasia. The ARX mutations are also associated with a spectrum of milder phenotypes, without macroscopic malformations of the brain, such as X-linked infantile spasms, a syndrome featuring mental retardation associated with distal dystonic movements (Partington syndrome), autistic features and nonsyndromicintellectual deficit. X-linked lissencephaly with abnormal genitalia X-linked lissencephaly with ambiguous genitalia X-linked lissencephaly-agenesis of the corpus callosum-genital anomalies syndrome X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome XLAG (X-linked lissencephaly with abnormal genitalia) syndrome lissencephaly, X-linked, type 2 LISX2 X-linked lissencephaly - agenesis of the corpus callosum - genital anomalies XLAG syndrome Xlisg hydranencephaly and abnormal genitalia hydranencephaly with abnormal genitalia lissencephaly, X-linked 2 lissencephaly, X-linked, 2 lissencephaly, X-linked, with ambiguous genitalia X-linked lissencephaly with abnormal genitalia https://rarediseases.info.nih.gov/diseases/12491/x-linked-lissencephaly-with-abnormal-genitalia MONDO:0010269 Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children. Coats disease Coats' disease Coats' syndrome Leber miliary aneurysm congenital retinal telangiectasia exudative retinopathy retinal telangiectasis Coats disease https://rarediseases.info.nih.gov/diseases/6121/coats-disease MONDO:0010270 Syndromic X-linked intellectual disability 7, also called MRXS7, is characterized by X-linked intellectual deficit, obesity, hypogonadism, and tapering fingers. https://github.com/monarch-initiative/mondo/issues/5588 MRXS7 X-linked intellectual disability, Ahmad type intellectual disability, X-linked syndromic 7 mental retardation, X-linked syndromic 7 syndromic X-linked intellectual disability type 7 Ahmad X-linked intellectual disability syndrome Ahmad X-linked mental retardation syndrome intellectual disability X-linked syndromic 7 intellectual disability, X-linked, syndromic 7 intellectual disability, obesity, hypogonadism, and tapering fingers mental retardation X-linked syndromic 7 mental retardation, X-linked, syndromic 7 mental retardation, obesity, hypogonadism, and tapering fingers syndromic X-linked intellectual disability 7 MONDO:0010271 X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia. https://github.com/monarch-initiative/mondo/issues/3664 Xq28 contiguous gene deletion syndrome myotubular myopathy with abnormal genital development X-linked myotubular myopathy-abnormal genitalia syndrome MONDO:0010273 https://github.com/monarch-initiative/mondo/issues/4521 Hodgkin disease susceptibility, pseudoautosomal lymphoma, Hodgkin, X-linked pseudoautosomal Hodgkin disease, X-linked Pseudoautosomal lymphoma, Hodgkin, X-linked pseudoautosomal MONDO:0010274 https://github.com/monarch-initiative/mondo/issues/4521 testicular germ cell tumor TGCT1 testicular germ cell tumor 1 testicular germ cell tumor 1 MONDO:0010275 A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5280 H-SMD hypomyelination-spondyloepimetaphyseal dysplasia syndrome leukoencephalopathy-SEMD syndrome leukoencephalopathy-metaphyseal chondrodysplasia syndrome spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, X-linked recessive LKMCD SEMD X-linked with mental deterioration SEMD, X-linked, with mental deterioration leukoencephalopathy with metaphyseal chondrodysplasia spondyloepimetaphyseal dysplasia X-linked with mental deterioration spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration spondyloepimetaphyseal dysplasia, Bieganski type MONDO:0010276 radioulnar synostosis, radial RAY abnormalities, and severe malformations in the MALE radioulnar synostosis, radial ray abnormalities, and severe malformations in the male MONDO:0010277 X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 MRXS11 SMRXS Shashi X-linked intellectual disability syndrome Shashi X-linked mental retardation syndrome X-linked intellectual disability Shashi type X-linked mental retardation Shashi type intellectual developmental disorder, syndromic 11, Shashi type, X-linked recessive intellectual disability, X-linked, syndromic 11, Shashi type mental retardation, X-linked, syndromic 11, Shashi type syndromic X-linked intellectual disability type 11 X-linked intellectual disability, Shashi type intellectual disability X-linked Shashi type intellectual disability X-linked syndromic 11 intellectual disability, X-linked, Shashi type intellectual disability, X-linked, syndromic 11 mental retardation X-linked Shashi type mental retardation X-linked syndromic 11 mental retardation, X-linked, Shashi type mental retardation, X-linked, syndromic 11 syndromic X-linked intellectual disability Shashi type MONDO:0010278 A very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures. https://github.com/monarch-initiative/mondo/issues/4521 Christianson syndrome MRXSCH X-linked Angelman-like syndrome X-linked intellectual disability, South African type X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome intellectual developmental disorder, X-linked syndromic, Christianson type intellectual disability, X-linked syndromic, Christianson type intellectual disability, microcephaly, epilepsy, and ataxia syndrome mental retardation, X-linked syndromic, Christianson type mental retardation, microcephaly, epilepsy, and ataxia syndrome Angelman-like syndrome X-linked Angelman-like syndrome, X-linked MRXS Christianson X-linked intellectual disability - craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy intellectual disability X-linked syndromic Christianson type intellectual disability microcephaly epilepsy and ataxia syndrome intellectual disability, X-linked, syndromic, Christianson type mental retardation, X-linked, syndromic, Christianson type Christianson syndrome https://rarediseases.info.nih.gov/diseases/10572/christianson-syndrome MONDO:0010279 A syndrome characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5682 terminal osseous dysplasia, X-linked dominant Odpd Odpf syndrome TOD osseous dysplasia, digital, with Facial pigmentary defects and multiple frenula terminal osseous dysplasia terminal osseous dysplasia and pigmentary defects terminal osseous dysplasia-pigmentary defects syndrome MONDO:0010280 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5372 ptosis, hereditary congenital 2 ptosis, hereditary congenital 2, X-linked dominant ptosis, hereditary congenital type 2 Ptos2 ptosis, X-linked ptosis, hereditary congenital 2 MONDO:0010281 Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit. https://github.com/monarch-initiative/mondo/issues/4521 ANTOPOL disease Danon disease Danon disease, X-linked dominant GSD due to LAMP-2 deficiency LAMP2 lysosomal glycogen storage disease glycogen storage disease type IIb glycogenosis due to LAMP-2 deficiency lysosomal glycogen storage disease caused by mutation in LAMP2 lysosomal glycogen storage disease with normal acid maltase activity pseudoglycogenosis II Antopol disease GSD IIb GSD IIb, formerly GSD2B (formerly) X-linked vacuolar cardiomyopathy and myopathy glycogen storage cardiomyopathy glycogen storage disease IIb glycogen storage disease due to LAMP-2 deficiency glycogen storage disease limited to the heart glycogen storage disease type 2b (formerly) lysosomal glycogen storage disease without acid maltase deficiency lysosomal glycogen storage disease without acid maltase deficiency (formerly) lysosomal glycogen storage disease without acid maltase deficiency, formerly pseudoglycogenosis 2 vacuolar cardiomyopathy and myopathy X-linked vacuolar cardiomyopathy and myopathy, X-linked Danon disease https://rarediseases.info.nih.gov/diseases/9730/danon-disease MONDO:0010282 https://github.com/monarch-initiative/mondo/issues/4521 mycobacterium tuberculosis, susceptibility to, X-linked mycobacterium tuberculosis, susceptibility, X-linked MTBSX mycobacterium tuberculosis, susceptibility to, X-linked MONDO:0010283 Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown. https://github.com/monarch-initiative/mondo/issues/3492 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 Lubs X-linked intellectual disability syndrome Lubs X-linked mental retardation syndrome MECP2 duplication syndrome MRXSL X-linked intellectual disability-hypotonia-recurrent infections syndrome Xq28 (MECP2) duplication distal duplication Xq intellectual developmental disorder, X-linked syndromic, Lubs type, X-linked recessive intellectual disability, X-linked, syndromic, Lubs type intellectual disability, X-linked, with recurrent respiratory infections mental retardation, X-linked, syndromic, Lubs type mental retardation, X-linked, with recurrent respiratory infections syndromic X-linked intellectual disability Lubs type telomeric duplication Xq Lubs X-linked intellectual disability syndrome (formerly) Lubs X-linked mental retardation syndrome (formerly) MECP2 Duplication syndrome XLMR syndrome, Lubs type intellectual disability, X-linked, Lubs type (formerly) mental retardation, X-linked, Lubs type (formerly) trisomy Xq28 syndromic X-linked intellectual disability Lubs type MONDO:0010284 X-linked intellectual disability, Armfield type is characterised by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28. https://github.com/monarch-initiative/mondo/issues/4521 Armfield X-linked intellectual disability syndrome Armfield X-linked mental retardation syndrome Armfield syndrome MRXSA X-linked intellectual disability, Armfield type intellectual developmental disorder, X-linked, syndromic, Armfield type, X-linked recessive intellectual disability syndrome, X-linked, Armfield type mental retardation syndrome, X-linked, Armfield type mental retardation syndrome, X-linked, armfield type, X-linked recessive syndromic X-linked intellectual disability Armfield type syndromic X-linked mental retardation Armfield type intellectual disability, X-linked, syndromic, Armfield type mental retardation, X-linked, syndromic, Armfield type Armfield syndrome MONDO:0010285 X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations. https://github.com/monarch-initiative/mondo/issues/5588 MRXSAB intellectual disability, X-linked syndromic, Abidi type mental retardation, X-linked syndromic, Abidi type syndromic X-linked intellectual disability Abidi type syndromic X-linked mental retardation Abidi type ABIDI X-linked intellectual disability syndrome ABIDI X-linked mental retardation syndrome X-linked intellectual disability, Abidi type intellectual disability X-linked Abidi type intellectual disability, X-linked, syndromic, Abidi type mental retardation, X-linked, syndromic, Abidi type short stature, small head circumference, sloping forehead, hearing loss, cupped ears and small testes syndromic X-linked intellectual disability Abidi type MONDO:0010286 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 MRXSSD Siderius X-linked intellectual disability syndrome Siderius X-linked mental retardation syndrome Siderius-Hamel syndrome intellectual developmental disorder, X-linked, syndromic, Siderius type, X-linked recessive intellectual disability syndrome, X-linked, Siderius type mental retardation syndrome, X-linked, Siderius type syndromic X-linked intellectual disability Siderius type Siderius Hamel syndrome X-linked intellectual disability Hamel type X-linked intellectual disability, Siderius type X-linked mental retardation Hamel type intellectual deficit X-linked Siderius type intellectual disability X-linked Siderius type intellectual disability, X-linked, syndromic, Siderius type mental retardation X-linked Siderius type mental retardation, X-linked, syndromic, Siderius type syndromic X-linked intellectual disability Siderius type MONDO:0010287 A hereditary spastic paraplegia that has material basis in variation in the chromosome region Xq11.2. https://github.com/monarch-initiative/mondo/issues/4521 SPG16 X-linked spastic paraplegia 16 X-linked spastic paraplegia type 16 hereditary spastic paraplegia type 16 spastic paraplegia 16, X-linked, complicated, X-linked recessive spastic paraplegia 16 spastic paraplegia 16, X-linked hereditary spastic paraplegia 16 MONDO:0010288 Adrenomyodystrophy is an extremely rare genetic endocrine disease characterized by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982. adrenomyodystrophy adrenomyodystrophy MONDO:0010289 https://github.com/monarch-initiative/mondo/issues/4521 intellectual developmental disorder, X-linked 72, X-linked recessive intellectual disability, X-linked 72 intellectual disability, X-linked type 72 mental retardation, X-linked type 72 MRX72 mental retardation, X-linked 72 intellectual disability, X-linked 72 MONDO:0010290 https://github.com/monarch-initiative/mondo/issues/4521 MNG2 goiter, multinodular 2 goiter, multinodular, 2, X-linked dominant goiter, multinodular 2 MONDO:0010292 https://github.com/monarch-initiative/mondo/issues/4521 Uruguay Faciocardiomusculoskeletal syndrome uruguay faciocardiomusculoskeletal syndrome, X-linked recessive FCMSU Fcms URUGUAY FACIOCARDIOMUSCULOSKELETAL syndrome faciocardiomusculoskeletal syndrome, Uruguay type Uruguay Faciocardiomusculoskeletal syndrome MONDO:0010293 EDA-ID HED-ID anhidrotic ectodermal dysplasia with immune deficiency anhidrotic ectodermal dysplasia with immunodeficiency hypohidrotic ectodermal dysplasia with immune deficiency hypohidrotic ectodermal dysplasia with immunodeficiency Xhm-Ed ectodermal dysplasia, anhidrotic, with immune deficiency ectodermal dysplasia, hypohidrotic, with immune deficiency hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia ectodermal dysplasia and immune deficiency MONDO:0010294 This syndrome is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein. https://github.com/monarch-initiative/mondo/issues/4521 X-linked severe congenital neutropenia neutropenia, severe congenital, X-linked, X-linked recessive severe congenital neutropenia, X-linked SCNX Xln neutropenia, severe congenital, X-linked severe congenital neutropenia X-linked X-linked severe congenital neutropenia https://rarediseases.info.nih.gov/diseases/3981/severe-congenital-neutropenia-x-linked MONDO:0010295 This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5520 ol-EDA-ID OLEDAID ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome MONDO:0010296 https://github.com/monarch-initiative/mondo/issues/4521 AGMX2 immunodeficiency 61, X-linked recessive XLA2 agammaglobulinemia X-linked type 2 agammaglobulinemia, X-linked, type 2 immunodeficiency 61 MONDO:0010297 Any FG syndrome in which the cause of the disease is a mutation in the FLNA gene. FG syndrome 2 FG syndrome caused by mutation in FLNA FG syndrome type 2 FLNA FG syndrome FGS2 FG syndrome 2 https://rarediseases.info.nih.gov/diseases/9923/fg-syndrome-2 MONDO:0010298 Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems. https://github.com/monarch-initiative/mondo/issues/4521 HG-PRT deficiency HPRT complete deficiency HPRT deficiency grade IV Lesch - Nyhan syndrome Lesch-Nyhan syndrome Lesch-Nyhan syndrome, X-linked recessive X-linked hyperuricemia X-linked hyperuricemia (disorder) [ambiguous] complete hypoxanthine-guanine phosphoribosyltransferase deficiency deficiency of IMP pyrophosphorylase hypoxanthine guanine phosphoribosyltransferase complete deficiency hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV HPRT deficiency HPRT deficiency, complete HPRT deficiency, neurologic variant Hprt1 deficiency LNS Lesch Nyhan disease Lesch Nyhan syndrome Lesch-Nyhan syndrome, neurologic variant hypoxanthine guanine phospho-ribosyltransferase 1 deficiency hypoxanthine guanine phosphoribosyltransferase 1 deficiency hypoxanthine-guanine-phosphoribosyltransferase deficiency (& [Lesch - Nyhan syndrome]) Lesch-Nyhan syndrome MONDO:0010299 Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout. https://github.com/monarch-initiative/mondo/issues/4521 HPRT deficiency, grade I HPRT partial deficiency HPRT-related gout HPRT-related hyperuricemia HPRT1 partial deficiency Kelley-Seegmiller syndrome hyperuricemia, HRPT-related, X-linked recessive hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency hypoxanthine guanine phosphoribosyltransferase deficiency, grade I HPRT deficiency, partial Hprt1 deficiency, partial KELLEY-Seegmiller syndrome gout, HPRT-related hypoxanthine guanine phosphoribosyltransferase 1 deficiency, partial hypoxanthine guanine phosphoribosyltransferase partial deficiency MONDO:0010300 https://github.com/monarch-initiative/mondo/issues/4521 MRX53 intellectual disability, X-linked 53 mental retardation, X-linked 53, X-linked recessive mental retardation, X-linked 53 intellectual disability, X-linked 53 MONDO:0010302 Hypomelanosis of Ito (HI) is a multisystemic neurocutaneous condition with hypopigmented skin lesions along the Blaschko lines. https://github.com/monarch-initiative/mondo/issues/3598 Incontinentia pigmenti type 1 Ito hypomelanosis hi syndrome hypomelanosis of Ito pigmentary mosaicism, Ito type HMI IPA Incontinentia pigmenti achromians Incontinentia pigmenti type 1 (formerly) Incontinentia pigmenti, type I Incontinentia pigmenti, type I, formerly Ito Ito hypomelanosis MONDO:0010304 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 Graves disease, susceptibility to, X-linked Graves disease, susceptibility to, X-linked 1 Graves disease, susceptibility to, X-linked type 1 Graves disease, susceptibility to, X-linked 2 Grdx1 Graves disease, susceptibility to, X-linked 1 MONDO:0010305 X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures. https://github.com/monarch-initiative/mondo/issues/4521 SLC6A8 deficiency cerebral creatine deficiency syndrome 1 cerebral creatine deficiency syndrome 1, X-linked recessive cerebral creatine deficiency syndrome type 1 creatine transporter deficiency CCDS1 X-linked creatine deficiency X-linked creatine deficiency syndrome X-linked creatine transporter deficiency creatine deficiency syndrome, X-linked creatine deficiency, X-linked creatine transporter defect intellectual disability, X-linked with seizures, short stature and midface hypoplasia intellectual disability, X-linked, with creatine Transport deficiency intellectual disability, X-linked, with creatine transport deficiency intellectual disability, X-linked, with seizures, short stature, and midface hypoplasia mental retardation, X-linked with seizures, short stature and midface hypoplasia mental retardation, X-linked, with creatine Transport deficiency mental retardation, X-linked, with creatine transport deficiency mental retardation, X-linked, with seizures, short stature, and midface hypoplasia creatine transporter deficiency MONDO:0010306 X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 Cabezas syndrome Cabezas syndrome; syndromic X-linked intellectual disability 15 Cabezas syndrome; syndromic X-linked mental retardation 15 MRSS MRXS15 MRXSC X-linked intellectual disability with short stature X-linked intellectual disability with short stature, hypogonadism, and abnormal gait X-linked intellectual disability, Cabezas type X-linked mental retardation with short stature X-linked mental retardation with short stature, hypogonadism, and abnormal gait intellectual disability, X-linked, syndromic 15 (Cabezas type) intellectual disability, X-linked, with short stature mental retardation, X-linked, syndromic 15 (Cabezas type) mental retardation, X-linked, syndromic 15 (Cabezas type), X-linked recessive mental retardation, X-linked, with short stature syndromic X-linked intellectual disability Cabezas type Cabezas type of X-linked syndromic intellectual disability Cul4B-related X-linked intellectual disability intellectual disability, X-linked, syndromic 15 intellectual disability, X-linked, syndromic, Cabezas type intellectual disability, X-linked, with short stature, hypogonadism, and abnormal Gait mental retardation, X-linked, syndromic 15 mental retardation, X-linked, syndromic, Cabezas type mental retardation, X-linked, with short stature, hypogonadism, and abnormal Gait OMIM obsoleted 300360 and moved this to 300354 so I merged these - smb. X-linked intellectual disability, Cabezas type MONDO:0010307 https://github.com/monarch-initiative/mondo/issues/4521 MRX73 intellectual disability, X-linked 73 mental retardation, X-linked 73, X-linked recessive mental retardation, X-linked 73 intellectual disability, X-linked 73 MONDO:0010308 An X-linked condition caused by mutation(s) in the GATA1 gene, encoding erythroid transcription factor. It is characterized by thrombocytopenia, as well as abnormal platelet function and morphology. Dyserythropoietic anemia of variable severity may also be present. https://github.com/monarch-initiative/mondo/issues/4521 X-linked thrombocytopenia, with or without dyserythropoietic Anemia thrombocytopenia, X-linked, with or without dyserythropoietic anemia thrombocytopenia, X-linked, with or without dyserythropoietic anemia, X-linked recessive XLTDA thrombocytopenia, X-linked, with or without dyserythropoietic anemia MONDO:0010309 MRX42 intellectual disability, X-linked 42 mental retardation, X-linked 42 intellectual disability, X-linked 42 MONDO:0010310 Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 Osteopathia striata with cranial sclerosis, X-linked dominant Robinow-Unger syndrome hyperostosis generalisata with striations osteopathia striata with cranial sclerosis OSCS osteopathia striata - cranial sclerosis osteopathia striata cranial sclerosis osteopathia striata-cranial sclerosis syndrome osteopathia striata with cranial sclerosis MONDO:0010311 Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle. https://github.com/monarch-initiative/mondo/issues/4521 BMD Becker dystrophinopathy Becker muscular dystrophy Becker muscular dystrophy, X-linked recessive benign congenital myopathy benign pseudohypertrophic muscular dystrophy Becker's muscular dystrophy muscular dystrophy pseudohypertrophic progressive, Becker type muscular dystrophy, Becker type muscular dystrophy, pseudohypertrophic progressive, Becker type Becker muscular dystrophy https://rarediseases.info.nih.gov/diseases/5900/becker-muscular-dystrophy MONDO:0010312 https://github.com/monarch-initiative/mondo/issues/4521 radial ray deficiency radial ray deficiency, X-linked Rrdx radial ray deficiency, X-linked MONDO:0010313 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ACSL4 gene. https://github.com/monarch-initiative/mondo/issues/4521 ACSL4 non-syndromic X-linked intellectual disability intellectual developmental disorder, X-linked 63, X-linked dominant intellectual disability, X-linked 63 intellectual disability, X-linked type 63 mental retardation, X-linked type 63 non-syndromic X-linked intellectual disability caused by mutation in ACSL4 ACSL4-related intellectual disability MRX63 intellectual disability, X-linked 68 mental retardation, X-linked 63 mental retardation, X-linked 68 intellectual disability, X-linked 63 MONDO:0010314 https://github.com/monarch-initiative/mondo/issues/4521 BPPX polymicrogyria, bilateral perisylvian, X-linked polymicrogyria, bilateral perisylvian, X-linked dominant BPP PMGX perisylvian syndrome, congenital bilateral polymicrogyria, bilateral perisylvian, X-linked MONDO:0010315 Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive. https://github.com/monarch-initiative/mondo/issues/4521 SCID-X1 SCIDX1 T-B+ SCID due to gamma chain deficiency T-B+ severe combined immunodeficiency due to gamma chain deficiency T-B+ severe combined immunodeficiency, X-linked X-linked severe combined immunodeficiency XSCID severe combined immunodeficiency, X-linked, X-linked recessive thymic epithelial hypoplasia SCID, X-linked SCIDX X-SCID X-linked SCID immunodeficiency 4 severe combined immunodeficiency T- B+ due to gamma chain deficiency severe combined immunodeficiency T- B+, X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency, X-linked, T cell-negative, B cell-positive, NK cell-negative T-B+ severe combined immunodeficiency due to gamma chain deficiency MONDO:0010316 FG syndrome 3 FGS3 FG syndrome 3 https://rarediseases.info.nih.gov/diseases/9924/fg-syndrome-3 MONDO:0010317 https://github.com/monarch-initiative/mondo/issues/4521 intellectual developmental disorder, X-linked 29, X-linked recessive ARX-related intellectual disability MRX52 MRXARX intellectual disability, X-linked 29 intellectual disability, X-linked 32 intellectual disability, X-linked 33 intellectual disability, X-linked 38 intellectual disability, X-linked 43 intellectual disability, X-linked 52 intellectual disability, X-linked 54 intellectual disability, X-linked 76 intellectual disability, X-linked 87 intellectual disability, X-linked, with or without seizures, ARX-related intellectual disability, X-linked, with or without seizures, arx-RELATED mental retardation, X-linked 29 mental retardation, X-linked 32 mental retardation, X-linked 33 mental retardation, X-linked 38 mental retardation, X-linked 43 mental retardation, X-linked 52 mental retardation, X-linked 54 mental retardation, X-linked 76 mental retardation, X-linked 87 mental retardation, X-linked, with or without seizures, arx-RELATED mental retardation, X-linked, with or without seizures, arx-related intellectual disability, X-linked, with or without seizures, arx-related MONDO:0010318 Any FG syndrome in which the cause of the disease is a mutation in the CASK gene. https://github.com/monarch-initiative/mondo/issues/4521 CASK FG syndrome FG syndrome 4 FG syndrome caused by mutation in CASK FG syndrome caused by mutation in cask FG syndrome type 4 cask FG syndrome mental retardation, with or without nystagmus FGS4 X-linked intellectual disability with or without nystagmus intellectual disability, X-linked, with or without Nystagmus mental retardation, X-linked, with or without Nystagmus FG syndrome 4 https://rarediseases.info.nih.gov/diseases/9925/x-linked-intellectual-disability-with-or-without-nystagmus MONDO:0010319 X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 MRXE MRXSH X-linked intellectual disability with epilepsy X-linked mental retardation with epilepsy intellectual developmental disorder, X-linked, syndromic, Hedera type, X-linked recessive intellectual disability, X-linked, syndromic, Hedera type mental retardation, X-linked, syndromic, Hedera type X-linked intellectual disability, Hedera type intellectual disability, X-linked, with epilepsy mental retardation, X-linked, with epilepsy syndromic X-linked intellectual disability Hedera type MONDO:0010320 Any retinitis pigmentosa in which the cause of the disease is a mutation in the OFD1 gene. https://github.com/monarch-initiative/mondo/issues/4521 OFD1 retinitis pigmentosa RP23 retinitis pigmentosa 23 retinitis pigmentosa 23, X-linked recessive retinitis pigmentosa caused by mutation in OFD1 retinitis pigmentosa type 23 RP 23 retinitis pigmentosa 23 https://rarediseases.info.nih.gov/diseases/10391/retinitis-pigmentosa-23 MONDO:0010321 https://github.com/monarch-initiative/mondo/issues/4521 autism susceptibility, X-linked 1 autism, susceptibility to, X-linked 1 autism, susceptibility to, X-linked type 1 AUTSX1 susceptibility to X-linked autism 1 autism, susceptibility to, X-linked 1 MONDO:0010322 MRX2 intellectual disability, X-linked 2 mental retardation, X-linked 2 intellectual disability, X-linked 2 MONDO:0010323 Atkin-Flaitz syndrome is characterised by moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linked. Atkin-Flaitz syndrome X-linked intellectual disability, Atkin type Atkin syndrome Atkin-Flaitz syndrome MONDO:0010324 https://github.com/monarch-initiative/mondo/issues/4521 MRX81 intellectual disability, X-linked 81 mental retardation, X-linked 81, X-linked recessive mental retardation, X-linked 81 intellectual disability, X-linked 81 MONDO:0010325 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 intellectual developmental disorder, X-linked syndromic, Stocco dos Santos type SDSX Sdsx Stocco DOS Santos X-linked intellectual disability syndrome Stocco DOS Santos X-linked mental retardation syndrome Stocco dos Santos syndrome intellectual disability, Stocco dos Santos type intellectual disability, X-linked, Stocco Dos Santos type mental retardation, Stocco dos Santos type mental retardation, X-linked, Stocco Dos Santos type X-linked intellectual disability, Stocco dos Santos type MONDO:0010326 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ARHGEF6 gene. https://github.com/monarch-initiative/mondo/issues/4521 ARHGEF6 non-syndromic X-linked intellectual disability intellectual disability, X-linked 46 intellectual disability, X-linked type 46 mental retardation, X-linked 46, X-linked recessive mental retardation, X-linked type 46 non-syndromic X-linked intellectual disability caused by mutation in ARHGEF6 MRX46 mental retardation, X-linked 46 intellectual disability, X-linked 46 MONDO:0010327 A rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy. https://github.com/monarch-initiative/mondo/issues/4521 17-beta-hydroxysteroid dehydrogenase 10 deficiency 17-beta-hydroxysteroid dehydrogenase X deficiency 2-methyl-3-hydroxybutyric aciduria 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency 3-hydroxyacyl-CoA dehydrogenase 2 deficiency HSD10 deficiency HSD10 mitochondrial disease HSD10 mitochondrial disease, X-linked dominant HSD10MD HSD17B10 deficiency MHBD deficiency MRXS10 chorioathetosis with mental retardation and abnormal behavior mental retardation with chorioathetosis and abnormal behavior mental retardation, X-linked syndromic 10 mental retardation, X-linked, syndromic 10 mental retardation, X-linked, syndromic type 10 HSD10 deficiency, atypical type X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome syndromic X-linked intellectual disability type 10 17 beta-hydroxysteroid dehydrogenase type 10 deficiency 2M3HBA 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency 3H2MBD deficiency hydroxyacyl-CoA dehydrogenase II deficiency HSD10 mitochondrial disease MONDO:0010328 Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH). https://github.com/monarch-initiative/mondo/issues/4521 ATMDS acquired HbH disease acquired hemoglobin H disease alpha-thalassemia myelodysplasia syndrome, somatic ALPHA-thalassemia myelodysplasia syndrome Hemoglobin H disease, acquired alpha-thalassemia-myelodysplastic syndrome MONDO:0010329 https://github.com/monarch-initiative/mondo/issues/4521 MRX77 intellectual disability, X-linked 77 mental retardation, X-linked 77, X-linked recessive mental retardation, X-linked 77 intellectual disability, X-linked 77 MONDO:0010331 https://github.com/monarch-initiative/mondo/issues/4882 coronary heart disease, susceptibility to, 3 coronary heart disease, susceptibility to, type 3 Chds3 coronary heart disease, susceptibility to, 3 MONDO:0010332 An X-linked syndromic intellectual disability characterised by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 Cubitus valgus with mental retardation and unusual facies, X-linked recessive cubitus valgus with intellectual disability and unusual facies cubitus valgus with mental retardation and unusual facies X-linked intellectual disability-cubitus valgus-dysmorphism syndrome MONDO:0010333 A developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 Graham-Cox syndrome MRXS28 corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma and micrognathia, X-linked recessive corpus callosum, agenesis of, with intellectual disability, ocular coloboma and micrognathia corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia intellectual disability, X-linked, syndromic 28 mental retardation, X-linked, syndromic 28 agenesis of the corpus callosum-intellectual disability-coloboma-micrognathia syndrome corpus callosum, agenesis of, with intellectual disability, ocular coloboma, and micrognathia corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome MONDO:0010334 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy). https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 deafness, dystonia, and cerebral hypomyelination, X-linked recessive DDCH contiguous ABCD1/Dxs1375E deletion syndrome deafness, dystonia, and cerebral hypomyelination severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome MONDO:0010335 https://github.com/monarch-initiative/mondo/issues/4521 CORDX3 X-linked cone-rod dystrophy type 3 cone-rod dystrophy, X-linked, 3, X-linked recessive cone-rod dystrophy, X-linked, type 3 cone-rod dystrophy X-linked 3 cone-rod dystrophy, X-linked, 3 X-linked cone-rod dystrophy 3 https://rarediseases.info.nih.gov/diseases/10654/cone-rod-dystrophy-x-linked-3 MONDO:0010336 Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit. https://github.com/monarch-initiative/mondo/issues/4521 OFD8 oral-facial-digital syndrome type 8 oral-facial-digital syndrome, Edwards type orofaciodigital syndrome VIII orofaciodigital syndrome VIII, X-linked recessive orofaciodigital syndrome type VIII orofaciodigital syndrome, Edwards type OFD syndrome 8 Ofds 8 oral facial digital syndrome 8 oral facial digital syndrome type 8 oral-Facial-digital syndrome with hypoplastic Epiglottis oral-Facial-digital syndrome, type 8 orofaciodigital syndrome 8 orofaciodigital syndrome type 8 orofaciodigital syndrome VIII MONDO:0010337 X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 OPHN1 syndrome Oligophrenin-1 syndrome X-linked intellectual disability-cerebellar hypoplasia syndrome intellectual developmental disorder, X-linked syndromic, Billuart type, X-linked recessive MRX60 (formerly) OPHN1 XLMR OPHN1 XLMR, X-linked intellectual disability OPHN1 deficiency OPHN1- related XLID X-linked intellectual Deficit with cerebellar Hypoplasia intellectual disability X-linked 60 (formerly) intellectual disability X-linked with cerebellar hypoplasia and distinctive facial appearance intellectual disability, X-linked 60 intellectual disability, X-linked 60, formerly intellectual disability, X-linked, with cerebellar hypoplasia and distinctive facial appearance mental retardation X-linked 60 (formerly) mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance mental retardation, X-linked 60 mental retardation, X-linked 60, formerly mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance X-linked intellectual disability-cerebellar hypoplasia syndrome https://rarediseases.info.nih.gov/diseases/9947/mental-retardation-x-linked-with-cerebellar-hypoplasia-and-distinctive-facial-appearance MONDO:0010338 X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males. https://github.com/monarch-initiative/mondo/issues/4521 ATP7A spinal muscular atrophy ATP7A-related distal motor neuropathy DSMAX SMAX3 X-linked dHMN type 3 X-linked dHMN3 X-linked dSMA type 3 X-linked dSMA3 X-linked distal hereditary motor neuropathy type 3 spinal muscular atrophy caused by mutation in ATP7A spinal muscular atrophy, distal, X-linked 3, X-linked recessive spinal muscular atrophy, distal, X-linked type 3 Dsmax spinal muscular atrophy, distal, X-linked 3 spinal muscular atrophy, distal, X-linked recessive X-linked distal spinal muscular atrophy type 3 MONDO:0010339 X-linked epilepsy-learning disabilities-behavior disorders syndrome is characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12). https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 X-linked epilepsy-learning disabilities-behavior disorders syndrome epilepsy, X-linked, with variable learning disabilities and behavior disorders, X-linked recessive, X-linked dominant epilepsy, X-linked, with variable learning disabilities and behavior disorders X-linked epilepsy-learning disabilities-behavior disorders syndrome MONDO:0010340 https://github.com/monarch-initiative/mondo/issues/4521 Asperger syndrome susceptibility, X-linked 1, Isolated cases, X-linked Asperger syndrome, X-linked, susceptibility to, 1 Asperger syndrome, X-linked, susceptibility to, type 1 ASPERGER syndrome, X-linked, susceptibility to, 1 ASPGX1 susceptibility to X-linked asperger syndrome 1 Asperger syndrome, X-linked, susceptibility to, 1 MONDO:0010341 A class of genetic disorders resulting in intellectual disability that is associated either with mutations of genes located on the X chromosome or aberrations in the structure of the X chromosome (sex chromosome aberrations). https://github.com/monarch-initiative/mondo/issues/4521 AUTSX2 autism susceptibility, X-linked 2, isolated cases, X-linked autism, susceptibility to, X-linked 2 autism, susceptibility to, X-linked type 2 intellectual developmental disorder, X-linked, Isolated cases, X-linked intellectual disability, X-linked mental retardation, X-linked susceptibility to X-linked autism 2 autism, susceptibility to, X-linked 2 MONDO:0010342 https://github.com/monarch-initiative/mondo/issues/4521 autism susceptibility, X-linked 3 autism, susceptibility to, X-linked 3 autism, susceptibility to, X-linked type 3 AUTSX3 susceptibility to X-linked autism 3 autism, susceptibility to, X-linked 3 MONDO:0010343 https://github.com/monarch-initiative/mondo/issues/4521 Asperger syndrome susceptibility, X-linked 2 Asperger syndrome, X-linked, susceptibility to, 2 Asperger syndrome, X-linked, susceptibility to, type 2 ASPERGER syndrome, X-linked, susceptibility to, 2 ASPGX2 susceptibility to X-linked asperger syndrome 2 Asperger syndrome, X-linked, susceptibility to, 2 MONDO:0010344 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF81 gene. https://github.com/monarch-initiative/mondo/issues/4521 ZNF81 non-syndromic X-linked intellectual disability intellectual disability, X-linked 45 intellectual disability, X-linked type 45 mental retardation, X-linked 45 mental retardation, X-linked type 45 non-syndromic X-linked intellectual disability caused by mutation in ZNF81 MRX45 intellectual disability, X-linked 45 MONDO:0010347 https://github.com/monarch-initiative/mondo/issues/4521 MRX84 intellectual disability, X-linked 84 mental retardation, X-linked 84, X-linked recessive mental retardation, X-linked 84 intellectual disability, X-linked 84 MONDO:0010348 DYX9 dyslexia, susceptibility to, 9 dyslexia, susceptibility to, 9 MONDO:0010349 Any primary ovarian failure in which the cause of the disease is a mutation in the BMP15 gene. BMP15 primary ovarian failure ovarian dysgenesis 2 ovarian dysgenesis type 2 primary ovarian failure caused by mutation in BMP15 ODG2 ovarian dysgenesis, hypergonadotropic, X-linked ovarian failure, hypergonadotropic, due to ovarian dysgenesis premature ovarian failure 4 ovarian dysgenesis 2 MONDO:0010350 Any primary ovarian failure in which the cause of the disease is a mutation in the DIAPH2 gene. https://github.com/monarch-initiative/mondo/issues/4521 DIAPH2 primary ovarian failure premature ovarian failure 2A premature ovarian failure 2A, X-linked dominant premature ovarian failure type 2A primary ovarian failure caused by mutation in DIAPH2 POF2A premature ovarian failure 2A MONDO:0010351 Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B. https://github.com/monarch-initiative/mondo/issues/4521 FA2 FACB FANCB Fanconi Anemia, complementation group type B Fanconi anemia complementation group B Fanconi anemia complementation group type B Fanconi anemia, complementation group B, X-linked recessive Fanconi pancytopenia type 2 Fanconi anemia, complementation group B Fanconi pancytopenia, type 2 Fanconi anemia complementation group B MONDO:0010352 https://github.com/monarch-initiative/mondo/issues/4521 MRX82 intellectual disability, X-linked 82 mental retardation, X-linked 82, X-linked recessive mental retardation, X-linked 82 intellectual disability, X-linked 82 MONDO:0010353 A syndrome characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome. https://github.com/monarch-initiative/mondo/issues/4521 Martin-Probst syndrome X-linked deafness-intellectual disability syndrome syndrome intellectual disability, X-linked, syndromic, Martin-Probst type martin-probst syndrome, X-linked recessive mental retardation, X-linked, syndromic, Martin-Probst type MRXSMP Martin-Probst deafness-intellectual disability syndrome Martin-Probst deafness-mental retardation syndrome deafness-intellectual disability syndrome, Martin-Probst type intellectual disability, X-linked, syndromic, MARTIN-Probst type mental retardation, X-linked, syndromic, MARTIN-Probst type deafness-intellectual disability, Martin-Probst type syndrome MONDO:0010354 A syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency. https://github.com/monarch-initiative/mondo/issues/5588 AHDS ALLAN-Herndon syndrome Allan-Herndon-Dudley syndrome MCT8 deficiency MCT8-specific thyroid hormone cell Membrane transporter deficiency X-linked intellectual disability-hypotonia syndrome monocarboxylate transporter 8 deficiency ALLAN-Herndon-DUDLEY syndrome Allan-Herndon syndrome T3 resisitence T3 resistance X-linked intellectual disability with hypotonia intellectual disability and muscular atrophy intellectual disability, X-linked, with hypotonia mental retardation and muscular atrophy mental retardation, X-linked, with hypotonia monocarboxylate transporter-8 deficiency triiodothyronine resistance triiodothyronine resistence Allan-Herndon-Dudley syndrome https://rarediseases.info.nih.gov/diseases/5617/allan-herndon-dudley-syndrome MONDO:0010355 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 MRXSCJ MRXSJ intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, X-linked recessive intellectual disability, X-linked, syndromic, Claes-Jensen type mental retardation, X-linked, syndromic, Claes-Jensen type syndromic X-linked intellectual disability Claes-Jensen type syndromic X-linked intellectual disability JARID1C-related syndromic X-linked intellectual disability due to JARID1C mutation syndromic X-linked mental retardation JARID1C-related intellectual disability, X-linked, syndromic, JARID1C-related mental retardation, X-linked, syndromic, JARID1C-related syndromic X-linked intellectual disability Claes-Jensen type MONDO:0010356 Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels. https://github.com/monarch-initiative/mondo/issues/4521 NSIAD nephrogenic syndrome of inappropriate antidiuresis nephrogenic syndrome of inappropriate antidiuresis, X-linked recessive nephrogenic syndrome of inappropriate antidiuresis MONDO:0010358 Any X-linked hypophosphatemic rickets in which the cause of the disease is a mutation in the CLCN5 gene. https://github.com/monarch-initiative/mondo/issues/4948 CLCN5 X-linked hypophosphatemic rickets X-linked hypophosphatemic rickets caused by mutation in CLCN5 hypophosphatemic rickets, X-linked recessive Editor note: ORDO inclides a btnt xref to this from Dent disease type 1, presumably due to the fact rickets is sometimes a feature of dent disease. We capture this separately in annotations hypophosphatemic rickets, X-linked recessive MONDO:0010359 Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features. https://github.com/monarch-initiative/mondo/issues/4521 Dent disease caused by mutation in OCRL Dent disease type 2 OCRL Dent disease dent disease 2, X-linked recessive nephrolithiasis type 2 DENT disease 2 Dent disease type 2 MONDO:0010360 PARK12 Parkinson disease 12 Parkinson disease, X-linked parkinson disease 12 MONDO:0010361 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the PAK3 gene. https://github.com/monarch-initiative/mondo/issues/4521 PAK3 non-syndromic X-linked intellectual disability intellectual developmental disorder, X-linked 30, X-linked recessive intellectual disability, X-linked 30 intellectual disability, X-linked type 30 mental retardation, X-linked type 30 non-syndromic X-linked intellectual disability caused by mutation in PAK3 MRX30 intellectual disability, X-linked 47 mental retardation, X-linked 30 mental retardation, X-linked 47 intellectual disability, X-linked 30 MONDO:0010362 A benign form of phosphorylase kinase deficiency caused by variants in PHKA1, characterized by exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4985 GSD IXd GSD due to muscle phosphorylase kinase deficiency GSD type 9D GSD type IXd GSD9D PHKA1 glycogen storage disease PHKA1-related glycogen storage disease type IX glycogen storage disease caused by mutation in PHKA1 glycogen storage disease due to muscle phosphorylase kinase deficiency glycogen storage disease type 9D glycogen storage disease type IXd glycogenosis due to muscle phosphorylase kinase deficiency glycogenosis type 9D glycogenosis type IXd muscle glycogenosis, X-linked recessive muscle phosphorylase kinase deficiency GSD Vb glycogen storage disease, type IXd muscle glycogenosis, X-linked muscular phosphorylase kinase deficiency glycogen storage disease IXd https://rarediseases.info.nih.gov/diseases/3858/muscular-phosphorylase-kinase-deficiency MONDO:0010363 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZDHHC15 gene. https://github.com/monarch-initiative/mondo/issues/4521 ZDHHC15 non-syndromic X-linked intellectual disability intellectual disability, X-linked 91 intellectual disability, X-linked type 91 mental retardation, X-linked 91, X-linked dominant mental retardation, X-linked type 91 non-syndromic X-linked intellectual disability caused by mutation in ZDHHC15 MRX91 mental retardation, X-linked 91 intellectual disability, X-linked 91 MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait. https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 Aldred syndrome chromosome xp11.3 deletion syndrome, X-linked recessive retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion retinitis pigmentosa and intellectual disability due to del(X)(p11.3) retinitis pigmentosa and intellectual disability due to monosomy Xp11.3 X-linked mental handicap-retinitis pigmentosa syndrome chromosome Xp11.3 deletion syndrome intellectual disability, X-linked, with retinitis pigmentosa mental retardation, X-linked, with retinitis pigmentosa nonspecific intellectual disability associated with retinitis pigmentosa nonspecific mental retardation associated with retinitis pigmentosa X-linked intellectual disability-retinitis pigmentosa syndrome MONDO:0010365 https://github.com/monarch-initiative/mondo/issues/4521 CFTDX myopathy, congenital, with fiber-type disproportion, X-linked myopathy, congenital, with fiber-type disproportion, X-linked, X-linked dominant myopathy, congenital, with fiber-type disproportion, X-linked MONDO:0010366 FG syndrome 5 FGS5 FG syndrome 5 MONDO:0010367 SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age, but may develop later in life or never. https://github.com/monarch-initiative/mondo/issues/4521 short stature, idiopathic familial ISS short stature, idiopathic, X-linked SHOX-related short stature MONDO:0010369 https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 NYS5 nystagmus 5, congenital, X-linked, X-linked dominant NYSTAGMUS 5, congenital, X-linked nystagmus 5, congenital, X-linked MONDO:0010370 An X-linked inherited form of Cornelia De Lange syndrome caused by mutations in the SMC1A gene mapped to chromosome Xp11.22. Patients have a milder form of the syndrome compared to patients with the NIPBL gene mutation. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 Cornelia De Lange syndrome type 2 Cornelia de Lange syndrome 2 Cornelia de Lange syndrome 2, X-linked dominant Cornelia de Lange syndrome caused by mutation in SMC1A SMC1A Cornelia de Lange syndrome X-linked Cornelia De Lange syndrome CDLS2 Cdls, X-linked Cornelia DE Lange syndrome 2 Cornelia De Lange syndrome, X-linked Cornelia de Lange syndrome 2 MONDO:0010371 An X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia. AIED Aland island eye disease FORSIUS-Eriksson type ocular albinism Forsius-Eriksson syndrome Forsius-Eriksson type ocular albinism ALAND ISLAND eye disease Forsius Eriksson type ocular albinism Åland Islands eye disease Aland island eye disease MONDO:0010373 Any primary ovarian failure in which the cause of the disease is a mutation in the POF1B gene. https://github.com/monarch-initiative/mondo/issues/4521 POF1B primary ovarian failure premature ovarian failure 2B premature ovarian failure 2B, X-linked recessive premature ovarian failure type 2B primary ovarian failure caused by mutation in POF1B POF2B premature ovarian failure 2B MONDO:0010374 A retinitis pigmentosa that has material basis in variation in the chromosome region Xq28. RP34 retinitis pigmentosa 34 retinitis pigmentosa type 34 RP 34 retinitis pigmentosa 34 https://rarediseases.info.nih.gov/diseases/10390/retinitis-pigmentosa-34 MONDO:0010375 https://github.com/monarch-initiative/mondo/issues/4521 DEE8 EIEE8 developmental and epileptic encephalopathy 8 early infantile epileptic encephalopathy 8 epileptic encephalopathy, early infantile, 8 epileptic encephalopathy, early infantile, type 8 hyperekplexia-epilepsy syndrome hyperekplexia and epilepsy developmental and epileptic encephalopathy, 8 MONDO:0010377 https://github.com/monarch-initiative/mondo/issues/4521 MYP13 myopia 13 myopia 13, X-linked myopia 13, X-linked MONDO:0010378 This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 X-linked auditory neuropathy with peripheral sensory neuropathy type 1 X-linked HSAN with deafness X-linked hereditary sensory and autonomic neuropathy with deafness deafness, X-linked 5, X-linked recessive DFNX5 auditory neuropathy, X-linked, 1, with peripheral sensory neuropathy deafness, X-linked 5 X-linked hereditary sensory and autonomic neuropathy with hearing loss https://rarediseases.info.nih.gov/diseases/12731/x-linked-hereditary-sensory-and-autonomic-neuropathy-with-deafness MONDO:0010379 Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood. https://github.com/monarch-initiative/mondo/issues/4521 Brunner syndrome Brunner syndrome, X-linked recessive antisocial behavior, X-linked recessive monoamine oxidase A deficiency BRNRS antisocial behavior, susceptibility to Brunner syndrome MONDO:0010380 cataract, ataxia, short stature, and intellectual disability cataract, ataxia, short stature, and mental retardation Casm syndrome cataracts, ataxia, short stature, and intellectual disability cataracts, ataxia, short stature, and mental retardation cataract, ataxia, short stature, and intellectual disability MONDO:0010381 https://github.com/monarch-initiative/mondo/issues/4521 Tn polyagglutination syndrome Tn polyagglutination syndrome, somatic TNPS galactosyltransferase deficiency Tn polyagglutination syndrome MONDO:0010382 Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4883 FXTAS syndrome Fragile X tremor/ataxia syndrome, X-linked dominant FXTAS fragile 10 tremor/ataxia syndrome fragile X tremor/ataxia syndrome fragile X-associated tremor/ataxia syndrome MONDO:0010383 A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4883 https://github.com/monarch-initiative/mondo/issues/5588 FRAXA syndrome FXS FraX syndrome Fragile X syndrome, X-linked dominant Martin-Bell syndrome fragile X intellectual disability syndrome fragile X mental retardation syndrome fragile X syndrome marker X syndrome X-linked intellectual disability and macroorchidism X-linked mental retardation and macroorchidism fra(X) syndrome fragile 10 intellectual disability syndrome fragile 10 mental retardation syndrome fragile 10 premature ovarian failure fragile 10 syndrome intellectual disability, X-linked, associated with Marxq28 marker 10 syndrome mental retardation, X-linked, associated with Marxq28 primary ovarian insufficiency, fragile X-associated fragile X syndrome MONDO:0010384 https://github.com/monarch-initiative/mondo/issues/4521 hypospadias 1, X-linked hypospadias 1, X-linked, X-linked recessive HYSP1 hypospadias 1, X-linked MONDO:0010385 A condition of decreased or absent presence of baculoviral IAP repeat-containing protein 4. Deficiency of this protein is associated with X-linked lymphoproliferative syndrome 2. https://github.com/monarch-initiative/mondo/issues/4521 X-linked lymphoproliferative disease due to XIAP deficiency X-linked lymphoproliferative syndrome type 2 XIAP deficiency XIAP deficiency/XLPs XLP2 lymphoproliferative syndrome, X-linked, 2, X-linked recessive lymphoproliferative syndrome, X-linked, type 2 XIAP-related lymphoproliferative disease, X-linked Xiap deficiency lymphoproliferative syndrome, X-linked, 2 X-linked lymphoproliferative disease due to XIAP deficiency https://rarediseases.info.nih.gov/diseases/10916/x-linked-lymphoproliferative-syndrome-2 MONDO:0010386 Any immunodeficiency disease in which the cause of the disease is a mutation in the IKBKG gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5520 https://github.com/monarch-initiative/mondo/issues/5701 IKBKG invasive pneumococcal disease, recurrent isolated IMD33 immunodeficiency 33, Mycobacteriosis, X-linked immunodeficiency 33, X-linked recessive immunodeficiency type 33 immunodeficiency without anhidrotic ectodermal dysplasia invasive pneumococcal disease, recurrent isolated caused by mutation in IKBKG invasive pneumococcal disease, recurrent isolated, 2 invasive pneumococcal disease, recurrent isolated, type 2 IPD2 NEMO deficiency syndrome NF-kappa B essential modulator deficiency atypical Mycobacteriosis, familial, X-linked 1 familial X-linked 1 atypical mycobacteriosis immunodeficiency, Pure immunodeficiency, isolated immunodeficiency 33 https://rarediseases.info.nih.gov/diseases/9917/immunodeficiency-without-anhidrotic-ectodermal-dysplasia MONDO:0010388 https://github.com/monarch-initiative/mondo/issues/4521 rolandic epilepsy, impaired intellectual development, and speech dyspraxia rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked rolandic epilepsy, mental retardation, and speech dyspraxia, X-linked RESDX ROLANDIC epilepsy, intellectual disability, and speech dyspraxia, X-linked ROLANDIC epilepsy, mental retardation, and speech dyspraxia, X-linked rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked MONDO:0010389 Any X-linked mendelian susceptibility to mycobacterial diseases in which the cause of the disease is a mutation in the CYBB gene. https://github.com/monarch-initiative/mondo/issues/4521 CYBB X-linked mendelian susceptibility to mycobacterial diseases X-linked MSMD due to CYBB deficiency X-linked mendelian susceptibility to mycobacterial diseases caused by mutation in CYBB immunodeficiency 34, mycobacteriosis, X-linked, X-linked recessive immunodeficiency type 34 IMD34 atypical Mycobacteriosis, familial, X-linked 2 immunodeficiency 34 immunodeficiency 34, Mycobacteriosis, X-linked X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency MONDO:0010390 Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism or a contiguous gene syndrome. OASD albinism ocular late onset sensorineural deafness albinism, ocular, with late-onset sensorineural deafness deafness and ocular albinism ocular albinism with sensorineural deafness ocular albinism with late-onset sensorineural deafness MONDO:0010391 https://github.com/monarch-initiative/mondo/issues/4521 angio serpiginosum, X-linked dominant angioma serpiginosum, X-linked angioma serpiginosum, X-linked MONDO:0010392 Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4985 GSD due to phosphoglycerate kinase 1 deficiency PGK1 glycogen storage disease glycogen storage disease caused by mutation in PGK1 glycogen storage disease due to phosphoglycerate kinase 1 deficiency glycogenosis due to phosphoglycerate kinase 1 deficiency phosphoglycerate kinase 1 deficiency, X-linked recessive PGK deficiency PHOSPHOGLYCERATE KINASE 1 deficiency Pgk1 deficiency Phosphoglycerate kinase deficiency glycogen storage disease due to phosphoglycerate kinase 1 deficiency MONDO:0010393 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the BRWD3 gene. https://github.com/monarch-initiative/mondo/issues/4521 BRWD3 non-syndromic X-linked intellectual disability intellectual developmental disorder, X-linked 93, X-linked recessive intellectual disability, X-linked 93 intellectual disability, X-linked type 93 mental retardation, X-linked type 93 non-syndromic X-linked intellectual disability caused by mutation in BRWD3 MRX93 intellectual disability, X-linked, with macrocephaly mental retardation, X-linked 93 mental retardation, X-linked, with macrocephaly intellectual disability, X-linked 93 MONDO:0010395 Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity). https://github.com/monarch-initiative/mondo/issues/3680 https://github.com/monarch-initiative/mondo/issues/4521 PRPP synthetase superactivity PRPS1 superactivity gout, PRPS-related, X-linked recessive phosphoribosylpyrophosphate synthetase superactivity phosphoribosylpyrophosphate synthetase superactivity, X-linked recessive gout, PRPS-related phosphoribosylpyrophosphate synthetase superactivity MONDO:0010396 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CDKL5 gene. https://github.com/monarch-initiative/mondo/issues/4521 CDKL5 early infantile epileptic encephalopathy DEE2 EIEE2 developmental and epileptic encephalopathy 2, X-linked dominant developmental and epileptic encephalopathy, 2 early infantile epileptic encephalopathy caused by mutation in CDKL5 epileptic encephalopathy, early infantile, 2 epileptic encephalopathy, early infantile, type 2 infantile spasm syndrome, X-linked 2 developmental and epileptic encephalopathy, 2 MONDO:0010397 An X-linked recessive condition caused by mutation(s) in the MECP2 gene, encoding methyl-CpG-binding protein 2. It is characterized by severe neonatal encephalopathy. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5671 encephalopathy, neonatal severe, X-linked recessive severe congenital encephalopathy due to MECP2 mutation severe neonatal encephalopathy due to MECP2 mutations encephalopathy, neonatal severe, due to MECP2 mutations severe neonatal-onset encephalopathy with microcephaly MONDO:0010398 Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the UPF3B gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 UPF3B X-linked syndromic intellectual disability X-linked syndromic intellectual disability caused by mutation in UPF3B intellectual developmental disorder, X-linked syndromic 14, X-linked recessive intellectual disability, X-linked, syndromic 14 intellectual disability, X-linked, syndromic type 14 mental retardation, X-linked, syndromic 14 mental retardation, X-linked, syndromic type 14 syndromic X-linked intellectual disability 14 syndromic X-linked intellectual disability type 14 MRXS14 syndromic X-linked intellectual disability 14 MONDO:0010399 https://github.com/monarch-initiative/mondo/issues/3664 Del(X)(p21) Glycerol kinase deficiency-contiguous gene syndrome Xp21 contiguous gene deletion syndrome Xp21 microdeletion syndrome chromosome Xp21 deletion syndrome complex glycerol kinase deficiency monosomy Xp21 Complex Glycerol kinase deficiency chromosome Xp21 deletion syndrome MONDO:0010400 X-linked scapuloperoneal muscular dystrophy (X-linked SPMD) is a skeletal muscle disease characterized by late onset, co-occurrence of scapular and peroneal muscle weakness, and scapular winging. https://github.com/monarch-initiative/mondo/issues/4521 X-linked SPMD X-linked scapuloperoneal syndrome scapuloperoneal myopathy, X-linked dominant, X-linked dominant SPM scapuloperoneal myopathy, FHL1-related scapuloperoneal myopathy, X-linked dominant X-linked scapuloperoneal muscular dystrophy MONDO:0010401 X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present. https://github.com/monarch-initiative/mondo/issues/4521 X-linked myopathy with postural muscle atrophy XMPMA myopathy, X-linked, with postural muscle atrophy, X-linked recessive Ehlers-Danlos syndrome, classic-like, 1 Emery-Dreifuss muscular dystrophy 6, X-linked myopathy, X-linked, with postural muscle atrophy X-linked myopathy with postural muscle atrophy MONDO:0010402 A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has material basis in mutation in the GRIA3 gene on chromosome Xq25. https://github.com/monarch-initiative/mondo/issues/4521 MRX94 MRXS29 intellectual developmental disorder, X-linked, syndromic, Wu type, X-linked recessive intellectual disability, X-linked 94 mental retardation, X-linked 94 syndromic X-linked intellectual disability 29 syndromic X-linked intellectual disability 94 syndromic X-linked intellectual disability Wu type syndromic X-linked intellectual disability due to GRIA3 anomalies syndromic X-linked intellectual disability type 94 syndromic X-linked mental retardation 29 syndromic X-linked mental retardation Wu type MRXSW intellectual disability, X-linked, syndromic 29 intellectual disability, X-linked, syndromic, Wu type mental retardation, X-linked, syndromic 29 mental retardation, X-linked, syndromic, Wu type syndromic X-linked intellectual disability 94 MONDO:0010403 A syndromic genetic hearing loss is characterised by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 Woolf's syndrome Ziprkowski–Margolis syndrome albinism deafness syndrome albinism-deafness syndrome ADFN ALDS Woolf syndrome Editor note: check whether precisely identicial to Woolf syndrome albinism-hearing loss syndrome https://rarediseases.info.nih.gov/diseases/589/albinism-deafness-syndrome MONDO:0010404 X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems. https://github.com/monarch-initiative/mondo/issues/4521 SCAX5 X-linked spinocerebellar ataxia type 5 spinocerebellar ataxia, X-linked 5, X-linked recessive spinocerebellar ataxia, X-linked 5 X-linked non progressive cerebellar ataxia MONDO:0010405 HPCX2 prostate cancer, hereditary, X-linked 2 prostate cancer, hereditary, X-linked 2 MONDO:0010406 https://github.com/monarch-initiative/mondo/issues/4521 Xp11.22 microduplication syndrome Xp11.22-linked intellectual disability chromosome Xp11.22 duplication syndrome intellectual disability, X-linked 17 intellectual disability, X-linked 31 mental retardation, X-linked 17 mental retardation, X-linked 31 chromosome Xp11.22 duplication syndrome MONDO:0010407 An X-linked syndromic intellectual disability characterised by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant. https://github.com/monarch-initiative/mondo/issues/5588 Brooks Wisniewski Brown syndrome Brooks-Wisniewski-Brown Syndrome Brooks-Wisniewski-Brown syndrome MRXST X-linked intellectual disability, Brooks type X-linked intellectual disability, Turner type intellectual disability, X-linked syndromic, Turner type mental retardation and macrocephaly syndrome mental retardation, X-linked, syndromic, Turner type syndromic X-linked intellectual disability Turner type Juberg-Marsidi Syndrome X-linked mental retardation Brooks type mental retardation, X-Linked, with growth retardation, deafness, and microgenitalism mental retardation, X-linked, syndromic, Brooks-Wisniewski-Brown Type mental retardation, X-linked, syndromic, Brooks-Wisniewski-Brown type intellectual disability, X-linked syndromic, Turner type MONDO:0010408 This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 STAR syndrome STAR syndrome, X-linked dominant syndactyly-telecanthus-anogenital and renal malformations syndrome STAR Star syndrome syndactyly with renal and anogenital malformations syndactyly, telecanthus, anogenital and renal malformations toe syndactyly, telecanthus, and anogenital and renal malformations toe syndactyly, telecanthus, anogenital and renal malformations syndactyly-telecanthus-anogenital and renal malformations syndrome MONDO:0010409 X-linked intellectual disability, Shrimpton type is characterised by the association of severe intellectual deficit with microcephaly, strabismus and short stature. It has been described in three boys from two unrelated families. Transmission is X-linked recessive and the causative gene has been localised to the q12-Xq21.31 region of the X-chromosome. https://github.com/monarch-initiative/mondo/issues/5588 MRXS9 intellectual disability, X-linked, syndromic 9 mental retardation, X-linked, syndromic 9 X-linked intellectual disability, Shrimpton type syndromic X-linked intellectual disability Shrimpton type MONDO:0010410 AGA2 alopecia, androgenetic, 2 alopecia, androgenetic, 2 MONDO:0010411 IHPS4 pyloric stenosis, infantile hypertrophic, 4 pyloric stenosis, infantile hypertrophic, 4 MONDO:0010412 X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 craniofacioskeletal syndrome, X-linked recessive, X-linked dominant craniofacioskeletal syndrome X-linked intellectual disability-craniofacioskeletal syndrome MONDO:0010413 https://github.com/monarch-initiative/mondo/issues/4521 MRX95 intellectual disability, X-linked 95 mental retardation, X-linked 95, X-linked dominant mental retardation, X-linked 95 intellectual disability, X-linked 95 MONDO:0010414 https://github.com/monarch-initiative/mondo/issues/4521 myopathy, reducing body, X-linked, early-onset, severe reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, X-linked dominant RBMX1A reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset myopathy, reducing body, X-linked, early-onset, severe MONDO:0010415 myopathy, reducing body, X-linked, childhood-onset RBMX1B reducing body myopathy, X-linked 1B, with late childhood or adult onset myopathy, reducing body, X-linked, childhood-onset MONDO:0010416 https://github.com/monarch-initiative/mondo/issues/4521 deafness, cataract, retinitis pigmentosa, and sperm abnormalities deafness, cataract, retinitis pigmentosa, and sperm abnormalities, X-linked recessive deafness, cataract, retinitis pigmentosa, and sperm abnormalities MONDO:0010417 Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 MICPCH X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, X-linked dominant intellectual disability and microcephaly with pontine and cerebellar hypoplasia mental retardation and microcephaly with pontine and cerebellar hypoplasia syndromic X-linked intellectual disability Najm type Micpch syndrome X-linked intellectual disability - microcephaly - pontocerebellar hypoplasia X-linked intellectual disability, Najm type intellectual disability and microcephaly with PONTINE and cerebellar hypoplasia intellectual disability, X-linked, syndromic, Najm type mental retardation and microcephaly with PONTINE and cerebellar hypoplasia mental retardation, X-linked, syndromic, Najm type microcephaly with pontine and cerebellar hypoplasia syndromic X-linked intellectual disability Najm type MONDO:0010418 X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients. https://github.com/monarch-initiative/mondo/issues/4521 SPG34 X-linked spastic paraplegia 34 X-linked spastic paraplegia type 34 hereditary spastic paraplegia type 34 spastic paraplegia 34, X-linked, X-linked recessive spastic paraplegia 34, X-linked hereditary spastic paraplegia 34 MONDO:0010420 X-linked form of erythropoietic protoporphyria. X-linked dominant erythropoietic protoporphyria X-linked dominant protoporphyria XLDPP XLP XLPP erythropoietic protoporphyria, X-linked Erythrohepatic protoporphyria, X-linked XLEPP protoporphyria, erythropoietic, X-linked protoporphyria, erythropoietic, X-linked dominant X-linked erythropoietic protoporphyria MONDO:0010421 X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder, and is characterized in affected males by recurrent bacterial infections during infancy. https://github.com/monarch-initiative/mondo/issues/4521 BTK deficiency BTK-deficiency Bruton agammaglobulinemia tyrosine kinase deficiency Bruton type agammaglobulinemia Bruton's Sex-linked agammaglobulinemia Bruton's X-linked agammaglobulinemia Bruton's agammaglobulinaemia Bruton's type agammaglobulinemia Bruton-type agammaglobulinemia X-linked agammaglobulinemia agammaglobulinemia, X-linked 1, X-linked recessive Bruton's agammaglobulinemia XLA agammaglobulinemia, BTK agammaglobulinemia, Bruton tyrosine kinase agammaglobulinemia, X-linked agammaglobulinemia, X-linked, type 1 hypogammaglobulinemia, X-linked immunodeficiency 1 Bruton-type agammaglobulinemia MONDO:0010422 An Alzheimer's disease that is characterized by an associated with a risk allele in in the PCDH11X gene on chromosome Xq21.3. AD16 Alzheimer disease 16 Alzheimer's disease 16 Alzheimer's disease type 16 Alzheimer disease 16 MONDO:0010423 https://github.com/monarch-initiative/mondo/issues/4521 hypospadias 2, X-linked hypospadias 2, X-linked, X-linked recessive HYSP2 hypospadias 2, X-linked MONDO:0010424 surfactant metabolism dysfunction, pulmonary, 4 surfactant metabolism dysfunction, pulmonary, type 4 Csf2Ra deficiency Pap due to Csf2Ra deficiency SMDP4 pulmonary alveolar proteinosis, congenital, 4 surfactant metabolism dysfunction, pulmonary, 4 MONDO:0010425 Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision. https://github.com/monarch-initiative/mondo/issues/4521 LECD Lisch epithelial corneal dystrophy band-shaped and whorled microcystic band-shaped and whorled microcystic dystrophy of the corneal epithelium corneal dystrophy, Lisch epithelial, X-linked dominant band-Shaped and whorled microcystic corneal epithelial dystrophy corneal dystrophy, Lisch epithelial Lisch epithelial corneal dystrophy MONDO:0010426 X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients. https://github.com/monarch-initiative/mondo/issues/4521 XECD corneal dystrophy, endothelial, X-linked, X-linked dominant corneal dystrophy, endothelial, X-linked endothelial corneal dystrophy, X-linked X-linked endothelial corneal dystrophy MONDO:0010427 A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has material basis in mutation in the ZDHHC9 gene on chromosome Xq26.1. https://github.com/monarch-initiative/mondo/issues/5588 MRXSR intellectual disability, X-linked syndromic, Raymond type mental retardation, X-linked syndromic, Raymond type syndromic X-linked intellectual disability Raymond type intellectual disability, X-linked, syndromic, Raymond type mental retardation, X-linked, syndromic, Raymond type syndromic X-linked intellectual disability Raymond type MONDO:0010428 A form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. https://github.com/monarch-initiative/mondo/issues/3492 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 Xp11.22-p11.23 Microduplication chromosome Xp11.23-p11.22 duplication syndrome chromosome xp11.23-p11.22 duplication syndrome, X-linked dominant microduplication Xp11.22-p11.23 syndrome trisomy Xp11.22-p11.23 chromosome Xp11.23-p11.22 duplication syndrome MONDO:0010429 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the SYP gene. https://github.com/monarch-initiative/mondo/issues/4521 SYP non-syndromic X-linked intellectual disability intellectual developmental disorder, X-linked 96, X-linked recessive intellectual disability, X-linked 96 intellectual disability, X-linked type 96 mental retardation, X-linked type 96 non-syndromic X-linked intellectual disability caused by mutation in SYP MRX96 mental retardation, X-linked 96 intellectual disability, X-linked 96 MONDO:0010430 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF711 gene. https://github.com/monarch-initiative/mondo/issues/4521 ZNF711 non-syndromic X-linked intellectual disability intellectual developmental disorder, X-linked 97 intellectual disability, X-linked 97 intellectual disability, X-linked type 97 mental retardation, X-linked type 97 non-syndromic X-linked intellectual disability caused by mutation in ZNF711 MRX97 Mrxz intellectual disability, X-linked 65 mental retardation, X-linked 65 mental retardation, X-linked 97 intellectual disability, X-linked 97 MONDO:0010431 Any Joubert syndrome in which the cause of the disease is a mutation in the OFD1 gene. https://github.com/monarch-initiative/mondo/issues/4521 JBTS10 Joubert syndrome 10 Joubert syndrome 10, X-linked recessive Joubert syndrome caused by mutation in OFD1 Joubert syndrome type 10 OFD1 Joubert syndrome Joubert syndrome 10 MONDO:0010432 A hemostatic disorder characterized by a tendency to thrombosis that has X-linked recessive inheritance, and can be caused by a gain-of-function mutation in the gene encoding factor IX (F9). https://github.com/monarch-initiative/mondo/issues/4521 deep venous thrombosis, protection against, X-linked recessive thrombophilia 8, X-linked, due to factor IX defect, X-linked recessive thrombophilia, X-linked, due to factor 9 defect thrombophilia, X-linked, due to factor IX defect THPH8 deep Venous thrombosis, protection against thrombophilia, X-linked, due to factor 9 defect MONDO:0010433 SLEB15 systemic lupus erythematosus, susceptibility to, 15 systemic lupus erythematosus, susceptibility to, 15 MONDO:0010434 Synovial sarcoma is an aggressive soft tissue sarcoma, occurring most commonly in adolescents and young adults (15 to 40 years), usually localized near the large joints of the extremities but also in the head and neck, mediastinum and viscera (lung, kidney etc), clinically presenting as a deep seated swelling or a painful mass often with an initial indolent course and is characterized by its local invasiveness and a propensity to metastasize. The origin of synovial sarcoma is likely from multipotent mesenchymal cells and not synovium (contrary to its name). synovial sarcoma (disease) SS Synovialosarcoma sarcoma, synovial, malignant synovial sarcoma synovial sarcoma (disease) sarcoma, synovial Synovial sarcomas are not necessarily of synovial origin. synovial sarcoma MONDO:0010435 https://github.com/monarch-initiative/mondo/issues/4521 nystagmus 6, congenital, X-linked nystagmus 6, congenital, X-linked, X-linked recessive NYS6 NYSTAGMUS 6, congenital, X-linked nystagmus 6, congenital, X-linked MONDO:0010436 https://github.com/monarch-initiative/mondo/issues/3492 chromosome Xq28 duplication syndrome chromosome Xq28 duplication syndrome MONDO:0010437 Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date. https://github.com/monarch-initiative/mondo/issues/4521 combined oxidative phosphorylation deficiency 6, X-linked recessive combined oxidative phosphorylation deficiency type 6 mitochondrial encephalomyopathy due to COXPD6 mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 COXPD6 combined oxidative phosphorylation deficiency 6 encephalomyopathy, mitochondrial, X-linked severe X-linked mitochondrial encephalomyopathy MONDO:0010438 Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGA gene. https://github.com/monarch-initiative/mondo/issues/4521 PIGA paroxysmal nocturnal hemoglobinuria pIgA paroxysmal nocturnal hemoglobinuria paroxysmal nocturnal hemoglobinuria 1 paroxysmal nocturnal hemoglobinuria caused by mutation in PIGA paroxysmal nocturnal hemoglobinuria caused by mutation in pIgA paroxysmal nocturnal hemoglobinuria type 1 paroxysmal nocturnal hemoglobinuria, somatic PNH1 paroxysmal nocturnal hemoglobinuria 1 MONDO:0010439 cardiomyopathy, fatal fetal, due to myocardial calcification myocardial calcifications resulting in intrauterine fetal death cardiomyopathy, fatal fetal, due to myocardial calcification https://rarediseases.info.nih.gov/diseases/8311/cardiomyopathy-fatal-fetal-due-to-myocardial-calcification MONDO:0010440 https://github.com/monarch-initiative/mondo/issues/4521 autism, susceptibility to, X-linked 4 autism, susceptibility to, X-linked 4, X-linked recessive autism, susceptibility to, X-linked type 4 AUTSX4 X-linked susceptibility to autism-4 chromosome Xp22 deletion syndrome susceptibility to X-linked autism 4 susceptibility to autism, X-linked autism, susceptibility to, X-linked 4 https://rarediseases.info.nih.gov/diseases/3775/x-linked-susceptibility-to-autism-4 MONDO:0010441 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 CK syndrome CK syndrome, X-linked recessive X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome intellectual disability, X-linked, with thin body habitus and cortical malformation mental retardation, X-linked, with thin body habitus and cortical malformation CK syndrome MONDO:0010442 https://github.com/monarch-initiative/mondo/issues/4521 46,XX Sex reversal type 3 46,XX sex reversal 3 46XX sex reversal 3, X-linked dominant 46,XX SEX reversal 3 46,XX Sex reversal, Sox3-related SRXX3 chromosome Xq26 Duplication syndrome chromosome Xq26 deletion syndrome 46,XX sex reversal 3 MONDO:0010443 https://github.com/monarch-initiative/mondo/issues/4521 macular degeneration, X-linked atrophic macular degeneration, X-linked atrophic, X-linked recessive macular degeneration, X-linked atrophic MONDO:0010444 https://github.com/monarch-initiative/mondo/issues/4521 anemia, X-linked, with/without neutropenia and/or platelet abnormalities, X-linked recessive XLANP anemia, X-linked, with or without neutropenia and/or platelet abnormalities X-linked dyserythropoetic anemia with abnormal platelets and neutropenia MONDO:0010446 X-linked cone dysfunction syndrome with myopia is characterised by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28. https://github.com/monarch-initiative/mondo/issues/4521 Bornholm eye disease Bornholm eye disease, X-linked recessive BORNHOLM eye disease bed myopia, high, with nonprogressive cone dysfunction X-linked cone dysfunction syndrome with myopia MONDO:0010447 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the RPS6KA3 gene. https://github.com/monarch-initiative/mondo/issues/4521 RPS6KA3 non-syndromic X-linked intellectual disability intellectual developmental disorder, X-linked 19, X-linked dominant intellectual disability, X-linked 19 intellectual disability, X-linked type 19 mental retardation, X-linked type 19 non-syndromic X-linked intellectual disability caused by mutation in RPS6KA3 MRX19 mental retardation, X-linked 19 intellectual disability, X-linked 19 MONDO:0010448 Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism. https://github.com/monarch-initiative/mondo/issues/4521 Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism moyamoya disease 4, X-linked recessive MYMY4 Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism chromosome Xq28 deletion syndrome, 3.4-Kb syndromic Moyamoya disease moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome MONDO:0010449 autism, susceptibility to, X-linked 5 autism, susceptibility to, X-linked type 5 AUTSX5 susceptibility to X-linked autism 5 autism, susceptibility to, X-linked 5 MONDO:0010450 https://github.com/monarch-initiative/mondo/issues/4521 MRX89 intellectual disability, X-linked 89 mental retardation, X-linked 89, X-linked dominant mental retardation, X-linked 89 intellectual disability, X-linked 89 MONDO:0010451 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the GDI1 gene. https://github.com/monarch-initiative/mondo/issues/4521 GDI1 non-syndromic X-linked intellectual disability intellectual developmental disorder, X-linked 41, X-linked dominant intellectual disability, X-linked 41 intellectual disability, X-linked type 41 mental retardation, X-linked type 41 non-syndromic X-linked intellectual disability caused by mutation in GDI1 MRX41 intellectual disability, X-linked 48 mental retardation, X-linked 41 mental retardation, X-linked 48 intellectual disability, X-linked 41 MONDO:0010452 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the DLG3 gene. https://github.com/monarch-initiative/mondo/issues/4521 DLG3 non-syndromic X-linked intellectual disability intellectual developmental disorder, X-linked 90, X-linked recessive intellectual disability, X-linked 90 intellectual disability, X-linked type 90 mental retardation, X-linked type 90 non-syndromic X-linked intellectual disability caused by mutation in DLG3 MRX90 mental retardation, X-linked 90 intellectual disability, X-linked 90 MONDO:0010453 https://github.com/monarch-initiative/mondo/issues/4521 MRX92 intellectual disability, X-linked 92 mental retardation, X-linked 92, X-linked recessive mental retardation, X-linked 92 intellectual disability, X-linked 92 MONDO:0010454 https://github.com/monarch-initiative/mondo/issues/4677 MRX88 intellectual disability, X-linked 88 intellectual disability, XMEN-linked 88 mental retardation, X-linked 88 intellectual disability, X-linked 88 MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyses show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias. https://github.com/monarch-initiative/mondo/issues/4521 Cid due to MAGT1 deficiency X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia XMEN combined immunodeficiency due to MAGT1 deficiency immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked recessive X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia immunodeficiency, X-linked, with magnesium defect, Epstein-Barr VIRUS infection, and neoplasia X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia MONDO:0010456 https://github.com/monarch-initiative/mondo/issues/4521 renal cell carcinoma, Xp11-associated renal cell carcinoma, papillary, 1 RCCX1 renal cell carcinoma, Xp11-associated MONDO:0010457 Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat. https://github.com/monarch-initiative/mondo/issues/4521 N-alpha-acetyltransferase N-terminal acetyltransferase deficiency OGDNS Ogden syndrome Ogden syndrome, X-linked recessive, X-linked dominant X-linked malformation and infantile lethality syndrome premature aging appearance-developmental delay-cardiac arrhythmia syndrome Acetyl-CoA:arylamine n-acetyltransferase N acetyltransferase 1 deficiency N acetyltransferase deficiency NAT1 deficiency arylamine n-acetyltransferase 1 Editor note: check GARD Ogden syndrome MONDO:0010458 HYSP4 hypospadias 4, X-linked, susceptibility to hypospadias 4, X-linked MONDO:0010459 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the UBQLN2 gene. https://github.com/monarch-initiative/mondo/issues/4521 ALS15 UBQLN2 amyotrophic lateral sclerosis amyotrophic lateral sclerosis 15 amyotrophic lateral sclerosis 15, with or without frontotemporal dementia amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, X-linked dominant amyotrophic lateral sclerosis caused by mutation in UBQLN2 amyotrophic lateral sclerosis type 15 amyotrophic lateral sclerosis 15 with or without frontotemporal dementia amyotrophic lateral sclerosis type 15 MONDO:0010460 Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 X-linked intellectual disability with alacrima and achalasia X-linked mental retardation with alacrima and achalasia intellectual disability, X-linked, syndromic 17 intellectual disability-alacrima-achalasia syndrome mental retardation, X-linked, syndromic 17 mental retardation, X-linked, syndromic 17, X-linked recessive syndromic X-linked intellectual disability type 17 MRXS17 intellectual disability, X-linked, with alacrima and achalasia mental retardation, X-linked, with alacrima and achalasia syndromic X-linked intellectual disability 17 MONDO:0010461 X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 X-linked intellectual disability-nail dystrophy-seizures syndrome intellectual developmental disorder, X-linked syndromic, Nascimento type, X-linked recessive intellectual disability, X-linked syndromic, Nascimento-type mental retardation, X-linked syndromic, Nascimento-type syndromic X-linked intellectual disability Nascimento type MRXSN X-linked intellectual disability, Nascimento type intellectual disability, X-linked, syndromic 30 intellectual disability, X-linked, syndromic, Nascimento type mental retardation, X-linked, syndromic 30 mental retardation, X-linked, syndromic, Nascimento type syndromic X-linked intellectual disability Nascimento type MONDO:0010462 A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has material basis in variation in the chromosomal region Xq21.33-q23. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 MRXSCS X-linked intellectual disability with seizures, hypogammaglobinemia, and gait disturbance X-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance intellectual disability, X-linked, syndromic, Chudley-Schwartz type mental retardation, X-linked, syndromic, Chudley-Schwartz type mental retardation, X-linked, syndromic, Chudley-Schwartz type, X-linked recessive intellectual disability, X-linked, with seizures, hypogammaglobulinemia, and Gait disturbance mental retardation, X-linked, with seizures, hypogammaglobulinemia, and Gait disturbance syndromic X-linked intellectual disability Chudley-Schwartz type MONDO:0010463 A rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males. https://github.com/monarch-initiative/mondo/issues/4521 X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, X-linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia X-linked dominant chondrodysplasia, Chassaing-Lacombe type MONDO:0010464 A rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures. https://github.com/monarch-initiative/mondo/issues/4521 X-linked intellectual disability, Kroes type cerebral-cerebellar-coloboma syndrome, X-linked, X-linked recessive X-linked cerebral-cerebellar-coloboma syndrome cerebral-cerebellar-coloboma syndrome, X-linked X-linked cerebral-cerebellar-coloboma syndrome syndrome MONDO:0010465 https://github.com/monarch-initiative/mondo/issues/4521 Kabuki syndrome 2 Kabuki syndrome 2, X-linked dominant Kabuki syndrome type 2 KABUK2 KABUKI syndrome 2 Kabuki syndrome 2 MONDO:0010466 Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 DEE20 GPIBD4 MCAHS type 2 MCAHS2 PIGA multiple congenital anomalies/dysmorphic syndrome-intellectual disability developmental and epileptic encephalopathy 20 epileptic encephalopathy, early infantile, 20 glycosylphosphatidylinositol biosynthesis defect 4 multiple congenital anomalies-hypotonia-seizures syndrome 2 multiple congenital anomalies-hypotonia-seizures syndrome 2, X-linked recessive multiple congenital anomalies-hypotonia-seizures syndrome type 2 multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGA multiple congenital anomalies-hypotonia-seizures syndrome 2 MONDO:0010467 Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism. https://github.com/monarch-initiative/mondo/issues/3492 https://github.com/monarch-initiative/mondo/issues/4521 Xq27.3-q28 microduplication syndrome chromosome xq27.3-q28 duplication syndrome, X-linked recessive dup(X)(q27.3q28) trisomy Xq27.3-q28 trisomy Xq27.3q28 chromosome Xq27.3-q28 DUPLICATION syndrome Xq27.3q28 duplication syndrome MONDO:0010468 ANIB5 aneurysm, intracranial BERRY, 5 aneurysm, intracranial berry, 5 MONDO:0010469 https://github.com/monarch-initiative/mondo/issues/4521 autism, susceptibility to, X-linked 6, X-linked recessive epsilon-trimethyllysine hydroxylase deficiency AUTSX6 EPSILON-trimethyllysine HYDROXYLASE deficiency TMLHED autism, susceptibility to, X-linked 6 susceptibility to X-linked autism 6 epsilon-trimethyllysine hydroxylase deficiency MONDO:0010471 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 Cornelia De Lange syndrome type 5 Cornelia de Lange syndrome 5 Cornelia de Lange syndrome 5, X-linked dominant CDLS5 Cornelia DE Lange syndrome 5 Cornelia de Lange syndrome 5 MONDO:0010472 https://github.com/monarch-initiative/mondo/issues/4521 ALG13-CDG CDG syndrome type Is CDG-Is CDG1S DEE36 EIEE36 congenital disorder of glycosylation type 1s congenital disorder of glycosylation type Is developmental and epileptic encephalopathy 36 epileptic encephalopathy, early infantile, 36 CDG Is congenital disorder of glycosylation, type Is developmental and epileptic encephalopathy, 36 MONDO:0010473 A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has material basis in mutation in the CLIC2 gene on chromosome Xq28. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 MRXS32 intellectual developmental disorder, X-linked syndromic 32, X-linked recessive intellectual disability, X-linked, syndromic 32 intellectual disability, X-linked, syndromic type 32 mental retardation, X-linked, syndromic 32 mental retardation, X-linked, syndromic type 32 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome MONDO:0010474 Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the COX7B gene. https://github.com/monarch-initiative/mondo/issues/4521 COX7B microphthalmia with linear skin defects syndrome linear skin defects with multiple congenital anomalies 2 linear skin defects with multiple congenital anomalies 2, X-linked dominant linear skin defects with multiple congenital anomalies type 2 microphthalmia with linear skin defects syndrome caused by mutation in COX7B LSDMCA2 aplasia cutis congenita, Reticulolinear, with microcephaly, Facial Dysmorphism, and Other congenital anomalies linear skin defects with multiple congenital anomalies 2 MONDO:0010475 An X-linked recessive syndrome caused by loss-of-function mutation(s) in IGSF1, encoding immunoglobulin superfamily member 1. This condition can result in central hypothyroidism, macroorchidism, delayed puberty, and variable prolactin deficiency. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 CHTE IGSF1 deficiency syndrome Immunoglobulin superfamily member 1 deficiency syndrome X-linked central congenital hypothyroidism with late-onset macroorchidism X-linked central congenital hypothyroidism with late-onset testicular enlargement central hypothyroidism and testicular enlargement hypothyroidism Central and testicular enlargement hypothyroidism, central, and testicular enlargement, X-linked recessive hypothyroidism, central, and testicular enlargement X-linked central congenital hypothyroidism with late-onset testicular enlargement MONDO:0010476 Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood. https://github.com/monarch-initiative/mondo/issues/4521 BPAN NBIA5 SENDA WDR45 neurodegeneration with brain iron accumulation beta-propeller protein-associated neurodegeneration neurodegeneration with brain iron accumulation 5 neurodegeneration with brain iron accumulation 5, X-linked dominant neurodegeneration with brain iron accumulation caused by mutation in WDR45 neurodegeneration with brain iron accumulation type 5 static encephalopathy Of childhood with neurodegeneration In adulthood static encephalopathy of childhood with neurdegeneration in adulthood neurodegeneration with brain iron accululation 5 static encephalopathy of childhood with neurodegeneration in adulthood neurodegeneration with brain iron accumulation 5 MONDO:0010477 The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males. https://github.com/monarch-initiative/mondo/issues/4521 BMRS, MKB type BMRS, Maat-Kievit-Brunner type Ohdo syndrome, X-linked, X-linked recessive X-linked Ohdo syndrome blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type OHDOX Ohdo syndrome, X-linked blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type blepharophimosis - intellectual disability syndrome, MKB type MONDO:0010478 SLC35A2-CDG is a congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum). https://github.com/monarch-initiative/mondo/issues/4521 CDG syndrome type IIm CDG-IIm CDG2M SLC35A2-CDG SLC35A2-congenital disorder of glycosylation congenital disorder of glycosylation type 2m congenital disorder of glycosylation type IIm congenital disorder of glycosylation, type IIm, Somatic mosaicism, X-linked dominant CDG IIm EIEE22 congenital disorder of glycosylation, type IIm epileptic encephalopathy, early infantile, 22 epileptic encephalopathy, early infantile, 22; EIEE22 SLC35A2-congenital disorder of glycosylation https://rarediseases.info.nih.gov/diseases/12403/slc35a2-cdg MONDO:0010479 X-linked Charcot-Marie-Tooth disease type 6 is a rare, genetic, principally axonal, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles). https://github.com/monarch-initiative/mondo/issues/4521 CMTX6 Charcot-Marie-Tooth disease X-linked dominant type 6 Charcot-Marie-Tooth disease, X-linked dominant, 6, X-linked dominant Charcot-Marie-Tooth disease, X-linked dominant, type 6 Charcot-Marie-Tooth neuropathy X-linked dominant 6 X-linked Charcot-Marie-Tooth disease type 6 CMT6X Charcot-Marie-Tooth disease, X-linked dominant, 6 Charcot-Marie-Tooth neuropathy, X-linked dominant, 6 Editor note: check CMT6X synonym, this implies it is a subtype of CMT6 Charcot-Marie-Tooth disease X-linked dominant 6 MONDO:0010480 https://github.com/monarch-initiative/mondo/issues/4202 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4985 Class I G6PD deficiency anemia, nonspherocytic hemolytic, due to G6PD deficiency class I glucose-6-phosphate dehydrogenase deficiency hemolytic anemia due to G6PD deficiency hemolytic anemia, G6PD deficient (favism), X-linked dominant severe hemolytic anemia due to G6PD deficiency anemia, nonspherocytic hemolytic, due to G6PD deficiency MONDO:0010481 Swelling involving the deep dermis, subcutaneous, or submucosal tissues, representing localized edema. Angioedema often occurs in the face, lips, tongue, and larynx. Edemas, angioneurotic Quincke edema Quincke's edema Quinckes edema Urticarias, giant angioedemas angioneurotic Edemas edema, Quincke's edema, angioneurotic giant Urticarias giant urticaria urticaria, giant angioneurotic edema angioneurotic oedema angioedema MONDO:0010482 X-linked parkinsonism-spasticity syndrome is a rare genetic neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign. https://github.com/monarch-initiative/mondo/issues/4521 Parkinsonism with spasticity, X-linked, X-linked recessive XPDS PARKINSONISM with spasticity, X-linked X-linked parkinsonism-spasticity syndrome MONDO:0010483 X-linked Mental retardation Cantagrel type is characterised by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 intellectual developmental disorder, X-linked 98, X-linked dominant intellectual disability, X-linked type 98 mental retardation, X-linked type 98 MRX98 intellectual disability, X-linked 98 mental retardation, X-linked 98 X-linked intellectual disability, Cantagrel type MONDO:0010484 Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the COL4A6 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 COL4A6 X-linked nonsyndromic deafness DFNX6 X-linked nonsyndromic deafness caused by mutation in COL4A6 deafness, X-linked 6 deafness, X-linked 6, X-linked recessive deafness, X-linked type 6 hearing loss, X-linked 6 MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus. X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome microphthalmia, syndromic type 13 MCOPS13 Maine microphthalmos colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation microphthalmia, syndromic 13 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome MONDO:0010486 https://github.com/monarch-initiative/mondo/issues/4521 Olmsted syndrome, X-linked Olmsted syndrome, X-linked, X-linked recessive palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked Olmsted syndrome, X-linked MONDO:0010487 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP9X gene. https://github.com/monarch-initiative/mondo/issues/4521 USP9X non-syndromic X-linked intellectual disability intellectual developmental disorder, X-linked 99, X-linked recessive intellectual disability, X-linked 99 intellectual disability, X-linked type 99 mental retardation, X-linked type 99 non-syndromic X-linked intellectual disability caused by mutation in USP9X MRX99 mental retardation, X-linked 99 intellectual disability, X-linked 99 MONDO:0010488 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KIF4A gene. https://github.com/monarch-initiative/mondo/issues/4521 KIF4A non-syndromic X-linked intellectual disability intellectual developmental disorder, X-linked 100, X-linked recessive intellectual disability, X-linked 100 intellectual disability, X-linked type 100 mental retardation, X-linked type 100 non-syndromic X-linked intellectual disability caused by mutation in KIF4A MRX100 mental retardation, X-linked 100 intellectual disability, X-linked 100 MONDO:0010489 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the MID2 gene. https://github.com/monarch-initiative/mondo/issues/4521 MID2 non-syndromic X-linked intellectual disability intellectual developmental disorder, X-linked 101, X-linked recessive intellectual disability, X-linked 101 intellectual disability, X-linked type 101 mental retardation, X-linked type 101 non-syndromic X-linked intellectual disability caused by mutation in MID2 MRX101 mental retardation, X-linked 101 intellectual disability, X-linked 101 MONDO:0010490 A form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4(Xq28). https://github.com/monarch-initiative/mondo/issues/4521 CDG syndrome type Iy CDG-Iy CDG1Y SSR4-CDG SSR4-congenital disorder of glycosylation carbohydrate deficient glycoprotein syndrome type Iy congenital disorder of glycosylation type 1y congenital disorder of glycosylation type Iy congenital disorder of glycosylation, type Iy, X-linked recessive CDG 1Y CDG Iy CDGIy congenital disorder of glycosylation, type Iy SSR4-congenital disorder of glycosylation MONDO:0010491 https://github.com/monarch-initiative/mondo/issues/3492 https://github.com/monarch-initiative/mondo/issues/4521 X-LAG (X-linked acrogigantism) due to dup(X)q(26) chromosome xq26.3 duplication syndrome, X-linked dominant familial infantile gigantism due to Xq26 microduplication familial infantile gigantism due to dup(X)q(26) X-linked acrogigantism chromosome Xq26 microduplication syndrome chromosome Xq26.3 DUPLICATION syndrome X-linked acrogigantism due to Xq26 microduplication MONDO:0010492 Any pituitary gland adenoma in which the cause of the disease is a mutation in the GPR101 gene. https://github.com/monarch-initiative/mondo/issues/4521 GPR101 pituitary gland adenoma pituitary adenoma 2, GH-secreting pituitary adenoma, Growth hormone-secreting, type 2 pituitary adenoma, growth hormone-secreting, 2 pituitary gland adenoma caused by mutation in GPR101 PAGH2 PITA2 acromegaly due to pituitary adenoma 2 acromegaly, X-linked pituitary adenoma 2, Growth hormone-secreting pituitary adenoma 2, growth hormone-secreting pituitary adenoma, growth hormone-secreting, 2 MONDO:0010493 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the TSR2 gene. https://github.com/monarch-initiative/mondo/issues/4521 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, X-linked recessive Diamond-Blackfan anemia caused by mutation in TSR2 TSR2 Diamond-Blackfan anemia DBA14 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis MONDO:0010494 Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the NDUFB11 gene. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 NDUFB11 microphthalmia with linear skin defects syndrome linear skin defects with multiple congenital anomalies 3 linear skin defects with multiple congenital anomalies 3, X-linked dominant linear skin defects with multiple congenital anomalies type 3 microphthalmia with linear skin defects syndrome caused by mutation in NDUFB11 LSDMCA3 linear skin defects with cardiomyopathy and Other congenital anomalies linear skin defects with multiple congenital anomalies 3 MONDO:0010495 Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the RNF113A gene. RNF113A nonphotosensitive trichothiodystrophy nonphotosensitive trichothiodystrophy caused by mutation in RNF113A trichothiodystrophy 5, nonphotosensitive TTD5 trichothiodystrophy 5, nonphotosensitive MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consitent pattern has been noted. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 intellectual developmental disorder, X-linked 12, X-linked recessive intellectual disability, X-linked type 12 mental retardation, X-linked type 12 MRX12 intellectual disability, X-linked 12 intellectual disability, X-linked 35 mental retardation, X-linked 12 mental retardation, X-linked 35 X-linked intellectual disability-short stature-overweight syndrome MONDO:0010497 An inherited condition caused by mutation(s) in the DDX3X gene, encoding ATP-dependent RNA helicase DDX3X. It is characterized by severe intellectual disability and variable neurologic features. https://github.com/monarch-initiative/mondo/issues/4521 DDX3X non-syndromic X-linked intellectual disability intellectual developmental disorder, X-linked, syndrome, Snijders Blok type, X-linked recessive, X-linked dominant intellectual disability, X-linked 102 intellectual disability, X-linked type 102 mental retardation, X-linked type 102 non-syndromic X-linked intellectual disability caused by mutation in DDX3X DDX3X-related intellectual disability MRX102 mental retardation, X-linked 102 intellectual disability, X-linked 102 MONDO:0010498 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 MEND syndrome MEND syndrome, X-linked recessive Male EBP disorder with neurological defects MEND Male EBP disorder with neurologic defects MEND syndrome MONDO:0010499 Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the CCDC22 gene. https://github.com/monarch-initiative/mondo/issues/4521 CCDC22 Ritscher-Schinzel syndrome RTSC2 Ritscher-Schinzel syndrome 2 Ritscher-Schinzel syndrome 2, X-linked recessive Ritscher-Schinzel syndrome caused by mutation in CCDC22 Ritscher-Schinzel syndrome type 2 Ritscher-Schinzel syndrome 2 MONDO:0010500 Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the TAF1 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 MRXS33 TAF1 X-linked syndromic intellectual disability X-linked syndromic intellectual disability caused by mutation in TAF1 intellectual developmental disorder, X-linked syndromic 33, X-linked recessive intellectual disability, X-linked, syndromic 33 intellectual disability, X-linked, syndromic type 33 mental retardation, X-linked, syndromic 33 mental retardation, X-linked, syndromic type 33 intellectual disability, X-linked, syndromic 33 MONDO:0010501 Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 MRXS34 MRXSML NONO X-linked syndromic intellectual disability X-linked syndromic intellectual disability caused by mutation in NONO intellectual developmental disorder, X-linked syndromic 34 intellectual disability, X-linked, syndromic 34 intellectual disability, X-linked, syndromic type 34 macrocephaly-intellectual disability-left ventricular non compaction syndrome mental retardation, X-linked, syndromic 34 mental retardation, X-linked, syndromic type 34 syndromic X-linked intellectual disability Mircsof-Langouet type syndromic X-linked intellectual disability type 34 syndromic X-linked mental retardation Mircsof-Langouet type intellectual disability, X-linked, syndromic, Mircsof-Langouet type mental retardation, X-linked, syndromic, Mircsof-Langouet type syndromic X-linked intellectual disability 34 MONDO:0010502 Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the USP9X gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 MRXS99F USP9X X-linked syndromic intellectual disability X-linked syndromic intellectual disability caused by mutation in USP9X intellectual developmental disorder, X-linked 99, syndromic, female-restricted, X-linked dominant intellectual disability, X-linked 99, syndromic, female-restricted mental retardation, X-linked 99, syndromic, female-restricted intellectual disability, X-linked 99, syndromic, female-restricted MONDO:0010503 Any Bartter syndrome in which the cause of the disease is a mutation in the MAGED2 gene. https://github.com/monarch-initiative/mondo/issues/4521 BARTS5 Bartter syndrome caused by mutation in MAGED2 Bartter syndrome, type 5, antenatal, transient Bartter syndrome, type 5, antenatal, transient, X-linked recessive MAGED2 Bartter syndrome Bartter disease type 5 MONDO:0010504 Any primary immunodeficiency disease in which the cause of the disease is a mutation in the ATP6AP1 gene. https://github.com/monarch-initiative/mondo/issues/4521 ATP6AP1 primary immunodeficiency disease IMD47 immunodeficiency 47 immunodeficiency 47, X-linked recessive immunodeficiency 47; IMD47 immunodeficiency type 47 primary immunodeficiency disease caused by mutation in ATP6AP1 immunodeficiency and hepatopathy with or without neurologic features immunodeficiency 47 MONDO:0010505 Intellectual disability-balding-patella luxation-acromicria syndrome is characterised by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males. https://github.com/monarch-initiative/mondo/issues/5588 SHLTS Scholte syndrome Scholte-Begeer-van Essen syndrome SCHOLTE syndrome early balding, patella luxation, acromicria and hypogonadism early balding, patella luxation, acromicria, and hypogonadism intellectual disability-balding-patella luxation-acromicria syndrome MONDO:0010506 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the RLIM gene. https://github.com/monarch-initiative/mondo/issues/4521 MRX61 RLIM non-syndromic X-linked intellectual disability Tonne-Kalscheuer syndrome intellectual disability, X-linked 61 intellectual disability, X-linked type 61 mental retardation, X-linked 61 mental retardation, X-linked type 61 non-syndromic X-linked intellectual disability caused by mutation in RLIM intellectual disability, X-linked 61 MONDO:0010507 https://github.com/monarch-initiative/mondo/issues/3492 https://github.com/monarch-initiative/mondo/issues/4521 Xq25 duplication syndrome Xq25 triplication syndrome Xq25 microduplication syndrome MONDO:0010508 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KLHL15 gene. https://github.com/monarch-initiative/mondo/issues/4521 KLHL15 non-syndromic X-linked intellectual disability MRX103 intellectual developmental disorder, X-linked 103, X-linked recessive intellectual disability, X-linked 103 intellectual disability, X-linked type 103 mental retardation, X-linked 103 mental retardation, X-linked type 103 non-syndromic X-linked intellectual disability caused by mutation in KLHL15 intellectual disability, X-linked 103 MONDO:0010509 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FRMPD4 gene. https://github.com/monarch-initiative/mondo/issues/4521 FRMPD4 non-syndromic X-linked intellectual disability MRX104 intellectual developmental disorder, X-linked 104 intellectual disability, X-linked 104 intellectual disability, X-linked type 104 mental retardation, X-linked 104 mental retardation, X-linked type 104 non-syndromic X-linked intellectual disability caused by mutation in FRMPD4 intellectual disability, X-linked 104 MONDO:0010510 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP27X gene. https://github.com/monarch-initiative/mondo/issues/4521 MRX105 USP27X non-syndromic X-linked intellectual disability intellectual developmental disorder, X-linked 105, X-linked recessive intellectual disability, X-linked 105 intellectual disability, X-linked type 105 mental retardation, X-linked 105 mental retardation, X-linked type 105 non-syndromic X-linked intellectual disability caused by mutation in USP27X intellectual disability, X-linked 105 MONDO:0010511 https://github.com/monarch-initiative/mondo/issues/4521 CBAVDX congenital bilateral absence of vas deferens, X-linked vas deferens, congenital bilateral aplasia of, X-linked vas deferens, congenital bilateral aplasia of, X-linked; CBAVDX vas deferens, congenital bilateral aplasia of, X-linked MONDO:0010512 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 MRXSB intellectual developmental disorder, X-linked, syndromic, Bain type, X-linked dominant intellectual disability, X-linked, syndromic, Bain type mental retardation, X-linked, syndromic, Bain type intellectual disability, X-linked, syndromic, Bain type MONDO:0010514 Cid due to Moesin deficiency IMD50 MSN-related combined immunodeficiency X-linked Moesin-associated immunodeficiency immunodeficiency 50 immunodeficiency type 50 immunodeficiency 50, X-linked recessive combined immunodeficiency due to moesin deficiency MONDO:0010515 https://github.com/monarch-initiative/mondo/issues/4948 MRLS Meester-Loeys syndrome Meester-Loeys syndrome; MRLS Meester-Loeys syndrome MONDO:0010516 https://github.com/monarch-initiative/mondo/issues/4521 MFHIEN midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, X-linked recessive midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis; MFHIEN midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis MONDO:0010517 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the PIH1D3 gene. https://github.com/monarch-initiative/mondo/issues/4521 CILD36 PIH1D3 primary ciliary dyskinesia ciliary dyskinesia, primary, 36, X-linked ciliary dyskinesia, primary, 36, X-linked, X-linked recessive ciliary dyskinesia, primary, 36, X-linked; CILD36 primary ciliary dyskinesia caused by mutation in PIH1D3 ciliary dyskinesia, primary, 36, with or without situs inversus ciliary dyskinesia, primary, 36, X-linked MONDO:0010518 Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies. https://github.com/monarch-initiative/mondo/issues/4521 WAS Wiskott Aldrich syndrome Wiskott syndrome Wiskott-Aldrich syndrome Wiskott-Aldrich syndrome 1 Wiskott-Aldrich syndrome, X-linked recessive eczema-thrombocytopenia-immunodeficiency syndrome immunodeficiency 2 Aldrich syndrome Imd 2 eczema thrombocytopenia immunodeficiency syndrome Wiskott-Aldrich syndrome https://rarediseases.info.nih.gov/diseases/7895/wiskott-aldrich-syndrome MONDO:0010519 X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal. https://github.com/monarch-initiative/mondo/issues/4521 ATR, nondeletion type ATR-X syndrome Alpha thalassemia X-linked intellectual disability syndrome Alpha thalassemia X-linked mental retardation syndrome Alpha thalassemia/intellectual disability syndrome X-linked Alpha thalassemia/mental retardation syndrome X-linked alpha thalassemia-X-linked intellectual disability syndrome alpha-thalassemia/intellectual disability syndrome nondeletion type alpha-thalassemia/mental retardation syndrome nondeletion type alpha-thalassemia/mental retardation syndrome, X-linked dominant ALPHA-thalassemia/intellectual disability syndrome, X-linked ALPHA-thalassemia/mental retardation syndrome, X-linked ATR, Nondeletion type ATRX ATRX syndrome Alpha thalassemia intellectual disability syndrome, nondeletion type, X-linked Alpha thalassemia mental retardation syndrome, nondeletion type, X-linked Alpha-thalassemia X-linked intellectual disability syndrome Alpha-thalassemia-X-linked intellectual disability syndrome Alpha-thalassemia/intellectual disability syndrome, Nondeletion type Alpha-thalassemia/mental retardation syndrome, Nondeletion type XLMR hypotonic face syndrome Editor note: in DO this is indirectly classified as AR, which is wrong. Here we separate AT from AT-like diseases. alpha thalassemia-X-linked intellectual disability syndrome https://rarediseases.info.nih.gov/diseases/5864/alpha-thalassemia-x-linked-intellectual-disability-syndrome MONDO:0010520 X-linked form of Alport syndrome. https://github.com/monarch-initiative/mondo/issues/4521 Alport syndrome 1, X-linked, X-linked dominant Alport syndrome, X-linked X-linked Alport syndrome nephropathy and deafness, X-linked ATS congenital hereditary hematuria hemorrhagic familial nephritis hemorrhagic hereditary nephritis X-linked Alport syndrome MONDO:0010521 Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMELX gene. https://github.com/monarch-initiative/mondo/issues/4521 AIH1 AMELX amelogenesis imperfecta X-linked amelogenesis imperfecta 1 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 1 amelogenesis imperfecta caused by mutation in AMELX amelogenesis imperfecta hypomaturationtype with snow-capped teeth amelogenesis imperfecta type IE amelogenesis imperfecta, type 1E, X-linked dominant AI1E X-linked enamel hypoplasia amelogenesis imperfecta X-linked 1 amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1 amelogenesis imperfecta, X-linked 1 amelogenesis imperfecta, hypomaturation type, with Snow-capped teeth amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 1 amelogenesis imperfecta, type 1E amelogenesis imperfecta, type IE enamel hypoplasia X-linked enamel hypoplasia, X-linked amelogenesis imperfecta type 1E https://rarediseases.info.nih.gov/diseases/9943/amelogenesis-imperfecta-hypoplastichypomaturation-x-linked-1 MONDO:0010522 An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region. https://github.com/monarch-initiative/mondo/issues/4521 AIH3 X-linked amelogenesis imperfecta hypoplastic/hypomaturation type 2 amelogenesis imperfecta 3 hypoplastic type amelogenesis imperfecta type IE X-linked 2 amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked type 2 amelogenesis imperfecta, type IE, X-linked 2 AIH3 (formerly) X-linked enamel hypoplasia amelogenesis imperfecta 3, hypoplastic type amelogenesis imperfecta 3, hypoplastic type (formerly) amelogenesis imperfecta 3, hypoplastic type, formerly amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 enamel hypoplasia, X-linked X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 MONDO:0010523 X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature. https://github.com/monarch-initiative/mondo/issues/4521 PDR Partington disease X-linked cutaneous amyloidosis XLPDR familial cutaneous amyloidosis pigmentary disorder, reticulate, with systemic manifestations, X-linked, X-linked recessive amyloidosis, familial cutaneous pigmentary disorder, reticulate, with systemic manifestations pigmentary disorder, reticulate, with systemic manifestations, X-linked X-linked reticulate pigmentary disorder MONDO:0010524 A rare syndromic, inherited form of sideroblastic anemia in which the cause of the disease is a mutation in the ABCB7 gene and is characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia. https://github.com/monarch-initiative/mondo/issues/4521 ASAT Pagon-Bird-Detter syndrome X-linked sideroblastic anemia and ataxia X-linked sideroblastic anemia with ataxia X-linked sideroblastic anemia with spinocerebellar ataxia XLSA-A anemia sideroblastic and spinocerebellar ataxia anemia, sideroblastic, with ataxia, X-linked recessive sideroblastic anemia with spinocerebellar ataxia Pagon Bird Detter syndrome X-linked sideroblastic Anemia and ataxia X-linked sideroblastic anemia and spinocerebellar ataxia Xlsa-A anemia, Sex-linked hypochromic Siderobla anemia, sideroblastic, and spinocerebellar ataxia X-linked sideroblastic anemia with ataxia MONDO:0010525 neural tube defects, X-linked X-linked anencephaly/spina bifida anencephaly and spina bifida X-linked spina bifida, X-linked neural tube defects, X-linked https://rarediseases.info.nih.gov/diseases/669/anencephaly-and-spina-bifida-x-linked MONDO:0010526 Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations. https://github.com/monarch-initiative/mondo/issues/5682 Alpha-galactosidase A deficiency Anderson-Fabry disease Fabry disease Fabry's disease Fd alpha galactosidase deficiency angiokeratoma corporis diffusum deficiency of melibiase diffuse angiokeratoma Fabry disease, Cardiac variant Gla deficiency angiokeratoma, diffuse ceramide trihexosidase deficiency hereditary dystopic lipidosis Fabry disease MONDO:0010528 Loss of or impaired ability to smell. This may be caused by olfactory nerve diseases; paranasal sinus diseases; viral respiratory tract infections; craniocerebral trauma; smoking; and other conditions. https://github.com/monarch-initiative/mondo/issues/3834 anosmia (disease) anosmia anosmia (disease) anosmia MONDO:0010529 A form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait. SCAX3 X-linked ataxia-deafness syndrome spinocerebellar ataxia, X-linked type 3 Scax3 ataxia-deafness syndrome X-linked ataxia-deafness syndrome, X-linked spinocerebellar ataxia X-linked type 3 spinocerebellar ataxia, X-linked 3 X-linked spinocerebellar ataxia type 3 https://rarediseases.info.nih.gov/diseases/9981/spinocerebellar-ataxia-x-linked-type-3 MONDO:0010531 Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia. https://github.com/monarch-initiative/mondo/issues/5588 Ladda-Zonana-Ramer syndrome Ladda Zonana Ramer syndrome arthrogryposis, ectodermal dysplasia, cleft LIP/palate, and developmental delay congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment contractures ectodermal dysplasia cleft lip palate contractures-ectodermal dysplasia-cleft lip/palate syndrome MONDO:0010532 A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure. https://github.com/monarch-initiative/mondo/issues/4521 SMAX2 X-linked distal arthrogryposis multiplex congenita X-linked spinal muscular atrophy type 2 spinal muscular atrophy with arthrogryposis spinal muscular atrophy, X-linked 2, infantile, X-linked recessive spinal muscular atrophy, X-linked type 2 AMC, distal, X-linked arthrogryposis multiplex congenita, distal, X-linked arthrogryposis, X-linked, type 1 spinal muscular atrophy, X-linked 2 spinal muscular atrophy, X-linked lethal infantile spinal muscular atrophy, infantile X-linked infantile-onset X-linked spinal muscular atrophy MONDO:0010533 Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy. https://github.com/monarch-initiative/mondo/issues/4521 Arts Arts syndrome Arts syndrome, X-linked recessive MRXS18 MRXSARTS fatal X-linked ataxia with deafness and loss of vision lethal ataxia with deafness and optic atrophy syndromic X-linked intellectual disability 18 syndromic X-linked intellectual disability Arts type syndromic X-linked mental retardation 18 syndromic X-linked mental retardation Arts type X-linked fatal ataxia with deafness and loss of vision ataxia, fatal X-linked, with deafness and loss of vision intellectual disability, X-linked, syndromic 18 intellectual disability, X-linked, syndromic, Arts type lethal ataxia-deafness-optic atrophy mental retardation, X-linked, syndromic 18 mental retardation, X-linked, syndromic, Arts type Arts syndrome https://rarediseases.info.nih.gov/diseases/8756/arts-syndrome MONDO:0010534 Spinocerebellar ataxia, X-linked, type 4 is characterised by ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life. SCAX4 X-linked ataxia-dementia syndrome spinocerebellar ataxia, X-linked type 4 Scax4 ataxia-dementia syndrome X-linked ataxia-dementia syndrome, X-linked spinocerebellar ataxia X-linked type 4 spinocerebellar ataxia, X-linked 4 X-linked spinocerebellar ataxia type 4 https://rarediseases.info.nih.gov/diseases/9980/spinocerebellar-ataxia-x-linked-type-4 MONDO:0010535 Bazex-Dupre-Christol syndrome is a rare genodermatosis (hereditary skin disease) with a predisposition to early-onset basal cell carcinomas. https://github.com/monarch-initiative/mondo/issues/4521 BDCS Bazex syndrome Bazex syndrome, X-linked dominant Bazex-Dupre-Christol syndrome Bazex-Dupré-Christol syndrome acrokeratosis of Bazex acrokeratosis paraneoplastica acrokeratosis paraneoplastica of Bazex follicular atrophoderma and basal cell carcinomas BZX follicular atrophoderma-basal cell carcinoma syndrome follicular atrophoderma-basocellular proliferations-hypotrichosis syndrome Bazex-Dupre-Christol syndrome MONDO:0010536 tubulin, beta tubulin, beta MONDO:0010537 A X-linked yndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 BFLS BORJ Borjeson syndrome Borjeson-Forssman-Lehmann syndrome Borjeson-Forssman-Lehmann syndrome, X-linked recessive MRXSBFL intellectual deficiency-epilepsy-endocrine disorders syndrome intellectual disability, epilepsy, and endocrine disorder intellectual disability-epilepsy-endocrine disorders syndrome mental retardation, epilepsy, and endocrine disorder syndromic X-linked intellectual disability Borjeson-Forssman-Lehmann type syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type Borjeson-FORSSMAN-Lehmann syndrome intellectual disability, X-linked, syndromic, Borjeson-Forssman-Lehmann type intellectual disability, epilepsy, and endocrine disorders mental deficiency, epilepsy and endocrine disorders mental retardation, X-linked, syndromic, Borjeson-Forssman-Lehmann type mental retardation, epilepsy, and endocrine disorders Borjeson-Forssman-Lehmann syndrome https://rarediseases.info.nih.gov/diseases/936/borjeson-forssman-lehmann-syndrome MONDO:0010538 Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested. Mononen type brachydactyly short and abducted thumbs and great toes skeletal dysplasia-brachydactyly syndrome Mononen Karnes Senac syndrome brachydactyly Mononen type brachydactyly, Mononen type skeletal dysplasia brachydactyly thumbs and great toes short and abducted thumbs and great toes, short and abducted Mononen-Karnes-Senac syndrome https://rarediseases.info.nih.gov/diseases/4886/brachydactyly-mononen-type MONDO:0010539 X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum. X-linked branchial arch syndrome X-linked mandibulofacial dysostosis with limb anomalies mandibulofacial dysostosis, Toriello type mandibulofacial dysostosis, X-linked MFD Toriello type branchial arch syndrome X-linked branchial arch syndrome, X-linked mandibulofacial dysostosis Toriello type X-linked mandibulofacial dysostosis MONDO:0010540 A genetic disorder characterised by formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers and nail abnormalities. Two families (one of whom was Dutch and the other Italian) have been described up to now, in which only males were affected. Transmission is X-linked recessive. The bullous dystrophy locus has been mapped to Xq26.3 in the Italian family and to Xq27.3 in the Dutch family. EBM bullous dystrophy hereditary macular type bullous dystrophy, hereditary macular type epidermolysis bullosa macular type epidermolysis bullosa, macular type bullous dystrophy, macular type https://rarediseases.info.nih.gov/diseases/1038/bullous-dystrophy-hereditary-macular-type MONDO:0010541 calvarial hyperostosis isolated hyperostosis of the calvarium X-linked calvarial hyperostosis MONDO:0010542 Any dilated cardiomyopathy in which the cause of the disease is a mutation in the DMD gene. CMD3B DMD dilated cardiomyopathy cardiomyopathy, dilated, type 3B dilated cardiomyopathy 3B dilated cardiomyopathy caused by mutation in DMD dilated cardiomyopathy type 3B DMD-related dilated cardiomyopathy X-linked dilated cardiomyopathy cardiomyopathy, dilated, 3B cardiomyopathy, dilated, X-linked dilated cardiomyopathy 3B MONDO:0010543 Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria. https://github.com/monarch-initiative/mondo/issues/4521 3-Methylglutaconicaciduria type 2 3-Methylglutaconicaciduria type II 3-methylglutaconic aciduria type 2 BTHS Barth syndrome Barth syndrome, X-linked recessive MGA type 2 MGA type II MGA2 X-linked cardioskeletal myopathy and neutropenia cardioskeletal myopathy with neutropenia and abnormal mitochondria cardioskeletal myopathy-neutropenia syndrome 3-Methylglutaconic aciduria, type 2 3-methylglutaconic aciduria type II BARTH syndrome Mga, type 2 TAZ defect Barth syndrome https://rarediseases.info.nih.gov/diseases/5890/barth-syndrome MONDO:0010544 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the NHS gene. CTRCT40 NHS early-onset non-syndromic cataract cataract 40 cataract 40 X-linked cataract 40 with or without microcornea cataract type 40 early-onset non-syndromic cataract caused by mutation in NHS cataract 40, X-linked cataract congenital X-linked cataract, congenital total, with posterior sutural opacities in heterozygotes cataract, congenital, X-linked cataract, congenital, with microcornea or slight microphthalmia cataract 40 MONDO:0010545 A syndrome characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 Nance-Horan syndrome nance-horan syndrome, X-linked dominant Mesiodens cataract syndrome Mesiodens-cataract syndrome NHS cataract X-linked with Hutchinsonian teeth cataract dental syndrome cataract, X-linked, with Hutchinsonian teeth cataract-dental syndrome Nance-Horan syndrome https://rarediseases.info.nih.gov/diseases/7161/nance-horan-syndrome MONDO:0010546 central incisors, absence of central incisors, absence of MONDO:0010547 https://github.com/monarch-initiative/mondo/issues/4521 spinocerebellar ataxia, X-linked 1, X-linked recessive spinocerebellar ataxia, X-linked type 1 OPCA, X-linked SCAX1 olivopontocerebellar atrophy, X-linked spinocerebellar ataxia, X-linked 1 X-linked progressive cerebellar ataxia MONDO:0010548 spinocerebellar ataxia, X-linked 2 spinocerebellar ataxia, X-linked type 2 Scax2 cerebellar ataxia with extrapyramidal involvement early-onset cerebellar ataxia with extrapyramidal involvement, early-onset spinocerebellar ataxia X-linked type 2 spinocerebellar ataxia, X-linked 2 MONDO:0010549 Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction beta-1 protein. The condition is characterized by moderate to severe motor and sensory neuropathy in males, and mild to no symptoms in females. https://github.com/monarch-initiative/mondo/issues/4521 CMT2 CMT2, formerly CMTX HMSN, X-linked hereditary motor and sensory neuropathy, X-linked CMTX 1 CMTX1 Charcot Marie Tooth disease X-linked 1 Charcot-Marie-Tooth disease X-linked dominant 1 Charcot-Marie-Tooth disease X-linked dominant type 1 Charcot-Marie-Tooth disease type X caused by mutation in GJB1 Charcot-Marie-Tooth disease, X-linked dominant, 1 Charcot-Marie-Tooth disease, X-linked dominant, type 1 Charcot-Marie-Tooth disease, X-linked, 1 Charcot-Marie-Tooth neuropathy X type 1 Charcot-Marie-Tooth neuropathy X-linked dominant 1 Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, X-linked dominant Charcot-Marie-Tooth neuropathy, X-linked, 1 GJB1 Charcot-Marie-Tooth disease type X X-linked Charcot-Marie-Tooth disease type 1 CMT1X Charcot-Marie-Tooth peroneal muscular atrophy, X-linked Charcot-Marie-Tooth disease X-linked dominant 1 MONDO:0010550 X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals. https://github.com/monarch-initiative/mondo/issues/4521 CMTX 2 CMTX2 Charcot Marie Tooth disease X-linked recessive 2 Charcot-Marie-Tooth disease X-linked recessive type 2 Charcot-Marie-Tooth disease, X-linked recessive, 2 Charcot-Marie-Tooth neuropathy X-linked recessive 2 Charcot-Marie-Tooth neuropathy, X-linked recessive, 2 Charcot-Marie-Tooth neuropathy, X-linked recessive, 2, X-linked recessive X-linked Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease X-linked recessive 2 MONDO:0010551 X-linked Charcot-Marie-Tooth disease type 3 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood- to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported. https://github.com/monarch-initiative/mondo/issues/4521 CMT3X CMTX 3 CMTX3 Charcot Marie Tooth disease X-linked recessive 3 Charcot-Marie-Tooth disease X-linked recessive type 3 Charcot-Marie-Tooth disease, X-linked recessive, 3 Charcot-Marie-Tooth neuropathy X-linked recessive 3 Charcot-Marie-Tooth neuropathy, X-linked recessive, 3 Charcot-Marie-Tooth neuropathy, X-linked recessive, 3, X-linked recessive X-linked Charcot-Marie-Tooth disease type 3 Charcot-Marie-Tooth disease X-linked recessive 3 MONDO:0010552 Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita MONDO:0010553 Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined MONDO:0010554 Abruzzo-Erikson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis. ABERS Abruzzo-Erickson syndrome CHARGE-like syndrome cleft palate-coloboma-deafness syndrome CHARGE like syndrome X-linked CHARGE-like syndrome, X-linked Abruzzo-Erickson syndrome https://rarediseases.info.nih.gov/diseases/360/abruzzo-erickson-syndrome MONDO:0010555 Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of nonrhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, and mild and nonrhizomelic shortness of the long bones. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 ARSE X-linked chondrodysplasia punctata X-linked chondrodysplasia punctata 1 X-linked chondrodysplasia punctata caused by mutation in ARSE X-linked chondrodysplasia punctata caused by mutation in arse arse X-linked chondrodysplasia punctata brachytelephalangic chondrodysplasia punctata chondrodysplasia punctata, X-linked recessive, X-linked recessive CDPX1 CPXR Cpxr arylsulfatase E deficiency chondrodysplasia punctata 1 X-linked recessive chondrodysplasia punctata 1, X-linked recessive chondrodysplasia punctata brachytelephalangic chondrodysplasia punctata, Brachytelephalangic chondrodysplasia punctata, brachytelephalangic X-linked chondrodysplasia punctata 1 https://rarediseases.info.nih.gov/diseases/1296/chondrodysplasia-punctata-1-x-linked-recessive MONDO:0010556 X-linked form of chondrodysplasia punctata. CPXD chondrodysplasia punctata, X-linked chondrodystrophia calcificans congenita X-linked dominant chondrodysplasia punctata chondrodysplasia punctata, X-linked dominant X-linked chondrodysplasia punctata MONDO:0010557 Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina. CHM Tapetochoroidal dystrophy choroideremia progressive choroidal atrophy TCD Tapetochoroidal dystrophy, progressive choroidal sclerosis progressive tapetochoroidal dystrophy choroideremia https://rarediseases.info.nih.gov/diseases/6061/choroideremia MONDO:0010558 Choroideremia-deafness-obesity syndrome is an X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state. https://github.com/monarch-initiative/mondo/issues/4521 Ayazi syndrome Xq21 deletion syndrome, X-linked recessive choroideremia deafness obesity choroideremia, deafness, and intellectual disability choroideremia, deafness, and mental retardation choroideremia, obesity, and congenital deafness chromosome Xq21 deletion syndrome choroideremia-deafness-obesity syndrome MONDO:0010559 MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles. https://github.com/monarch-initiative/mondo/issues/4521 Gareis-Mason syndrome MASA syndrome X-linked complicated hereditary spastic paraplegia type 1 X-linked corpus callosum agenesis X-linked spastic paraplegia 1 hereditary spastic paraplegia 1 intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome masa syndrome, X-linked recessive spastic paraplegia, X-linked CRASH syndrome CRASH syndrome, X-linked recessive Clasped thumb and intellectual disability Clasped thumb and mental retardation adducted thumb with intellectual disability adducted thumb with mental retardation intellectual disability aphasia shuffling Gait adducted thumbs (MASA) intellectual disability, aphasia, shuffling Gait, and adducted thumbs mental retardation aphasia shuffling Gait adducted thumbs (MASA) mental retardation, aphasia, shuffling Gait, and adducted thumbs spastic paraplegia 1 spastic paraplegia 1, X-linked thumb congenital clasped with intellectual disability thumb congenital clasped with mental retardation thumb, congenital Clasped, with intellectual disability thumb, congenital Clasped, with mental retardation MASA syndrome MONDO:0010560 X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported. https://github.com/monarch-initiative/mondo/issues/4521 X-linked cleft palate and ankyloglossia cleft palate with ankyloglossia cleft palate with or without ankyloglossia, X-linked CPX X-linked cleft palate cleft palate X-linked cleft palate, X-linked cleft palate with or without ankyloglossia, X-linked https://rarediseases.info.nih.gov/diseases/1394/cleft-palate-x-linked MONDO:0010561 A rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 CLS Coffin-Lowry syndrome Coffin-Lowry syndrome, X-linked dominant COFFIN-Lowry syndrome Coffin syndrome Coffin syndrome 1 dwarfism, lean spastic type intellectual disability with osteocartilaginous abnormalities lean spastic dwarfism mental retardation with osteocartilaginous abnormalities Coffin-Lowry syndrome https://rarediseases.info.nih.gov/diseases/6123/coffin-lowry-syndrome https://rarediseases.info.nih.gov/diseases/8589/coffin-syndrome-1 MONDO:0010562 Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns. colonic atresia (disease) atresia of colon colon atresia colonic atresia colonic atresia (disease) congenital atresia of colon colonic atresia MONDO:0010563 Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia. https://github.com/monarch-initiative/mondo/issues/4521 S cone monochromacy S cone monochromatism X-linked incomplete achromatopsia atypical X-linked achromatopsia blue cone monochromacy blue cone monochromacy, X-linked recessive blue cone monochromatism color blindness, blue monocone monochromatic type BCM CBBM X-chromosome-linked achromatopsia X-linked achromatopsia incomplete achromatopsia incomplete X-linked color blindness blue mono cone monochromatic type colorblindness, blue-Mono-cone-monochromatic type cone dystrophy 5, X-linked incomplete achromatopsia X-linked blue cone monochromacy https://rarediseases.info.nih.gov/diseases/917/blue-cone-monochromatism MONDO:0010564 Deuteranopia is a type of color vision deficiency where the green photoreceptors are absent. It affects hue discrimination in the same way as protanopia, but without the dimming effect. Like protanopia, it is hereditary, sex-linked, and found in about 1% of the male population. https://github.com/monarch-initiative/mondo/issues/4521 Deutan defect colorblindness, deutan deuteranopia partial achromatopsia, deutan type reduced red-green discrimination CBD Deutan colorblindness Deuteranomaly Green colorblindness colorblindness, partial, DEUTAN series red-green color blindness MONDO:0010565 Protanopia is a severe type of color vision deficiency caused by the complete absence of red retinal photoreceptors. Protans have difficulties distinguishing between blue and green colors and also between red and green colors. It is a form of dichromatism in which the subject can only perceive light wavelengths from 400 to 650 nm, instead of the usual 700 nm. Pure reds cannot be seen, instead appearing black; purple colors cannot be distinguished from blues; more orange-tinted reds may appear as very dim yellows, and all orange-yellow-green shades of too long a wavelength to stimulate the blue receptors appear as a similar yellow hue. It is hereditary, sex-linked, and present in 1% of males. https://github.com/monarch-initiative/mondo/issues/4521 colorblindness, protan partial achromatopsia, protan type protan defect protanopia red color blindness CBP colorblindness, partial, protan series protanomaly red colorblindness red color blindness MONDO:0010566 https://github.com/monarch-initiative/mondo/issues/4521 COD1 CORDX1 X-linked cone dystrophy 1 X-linked cone-rod dystrophy type 1 cone-rod dystrophy, X-linked, 1, X-linked recessive cone-rod dystrophy, X-linked, type 1 cone dystrophy 1, X-linked cone dystrophy X-linked 1 cone-rod dystrophy X-linked 1 cone-rod dystrophy, X-linked, 1 X-linked cone-rod dystrophy 1 https://rarediseases.info.nih.gov/diseases/10652/cone-rod-dystrophy-x-linked-1 MONDO:0010567 cone dystrophy, X-linked, with tapetal-like sheen X-linked recessive cone dystrophy with tapetal-like sheen cone dystrophy X-linked with tapetal-like sheen cone dystrophy, X-linked, with tapetal-like sheen https://rarediseases.info.nih.gov/diseases/10119/cone-dystrophy-x-linked-with-tapetal-like-sheen MONDO:0010568 Aicardi syndrome is a rare neurodevelopmental disorder defined by the triad of agenesis of the corpus callosum (total or partial), typical chorioretinal lacunae and infantile spasms that affect almost exclusively females. https://github.com/monarch-initiative/mondo/issues/3680 https://github.com/monarch-initiative/mondo/issues/4521 Aicardi syndrome Aicardi syndrome, X-linked dominant agenesis of corpus callosum with chorioretinal abnormality corpus callosum agenesis of with chorioretinal abnormality AIC corpus callosum, agenesis of, with chorioretinal Abnormality Aicardi syndrome https://rarediseases.info.nih.gov/diseases/5764/aicardi-syndrome MONDO:0010569 X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum. https://github.com/monarch-initiative/mondo/issues/4521 corpus callosum, partial agenesis of, X-linked recessive X-linked complicated corpus callosum agenesis X-linked partial agenesis of corpus callosum X-linked partial corpus callosum agenesis corpus callosum, partial agenesis of, X-linked X-linked complicated corpus callosum dysgenesis MONDO:0010570 An X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 CFND CFNS craniofrontonasal dysplasia craniofrontonasal dysplasia, X-linked dominant craniofrontonasal syndrome craniofrontonasal dysostosis craniofrontonasal syndrome MONDO:0010571 A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 OPD 2 syndrome OPD II syndrome OPD syndrome 2 otopalatodigital syndrome, type II, X-linked dominant Andre syndrome FPO OPD2 cranio-oro-digital syndrome cranioorodigital syndrome faciopalatoosseous syndrome oto-palato-digital syndrome type 2 otopalatodigital syndrome, type 2 otopalatodigital syndrome, type II otopalatodigital syndrome type 2 MONDO:0010572 Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect. https://github.com/monarch-initiative/mondo/issues/4521 EDS IX Ehlers-Danlos syndrome type 9 Ehlers-Danlos syndrome type IX X-linked cutis laxa occipital horn syndrome occipital horn syndrome, X-linked recessive EDS IX (formerly) EDS IX, formerly EDS9 EDS9, formerly Ehlers-Danlos syndrome, occipital horn type Ehlers-Danlos syndrome, occipital horn type (formerly) Ehlers-Danlos syndrome, occipital horn type, formerly OHS cutis laxa X-linked cutis laxa, X-linked cutis laxa, X-linked, formerly occipital horn syndrome MONDO:0010573 cutis verticis gyrata, thyroid aplasia, and intellectual disability cutis verticis gyrata, thyroid aplasia, and mental retardation cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome Akesson syndrome cutis verticis gyrata, thyroaplasia and mental deficiency syndrome cutis verticis gyrata-thyroid aplasia-mental retardation syndrome cutis verticis gyrata, thyroid aplasia, and intellectual disability MONDO:0010574 X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 MRX59 MRXS21 Pettigrew syndrome Pettigrew syndrome, X-linked recessive X-linked intellectual disability 59 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome X-linked mental retardation 59 X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures intellectual disability, X-linked syndromic 5 mental retardation, X-linked syndromic 5 syndromic X-linked intellectual disability 21 syndromic X-linked intellectual disability fried type syndromic X-linked intellectual disability type 5 syndromic X-linked mental retardation 21 syndromic X-linked mental retardation fried type Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures MRXS5 PETTIGREW syndrome PGS X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - seizures fried syndrome intellectual disability X-linked syndromic 5 intellectual disability X-linked with Dandy-Walker malformation basal ganglia disease and seizures intellectual disability, X-linked 59 intellectual disability, X-linked, syndromic 21 intellectual disability, X-linked, syndromic 5 intellectual disability, X-linked, syndromic, fried type intellectual disability, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures mental retardation X-linked syndromic 5 mental retardation X-linked with Dandy-Walker malformation basal ganglia disease and seizures mental retardation, X-linked 59 mental retardation, X-linked, syndromic 21 mental retardation, X-linked, syndromic 5 mental retardation, X-linked, syndromic, fried type mental retardation, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures Editor note: check relationship to friend syndrome syndromic X-linked intellectual disability 5 MONDO:0010575 This syndrome is characterized by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behavior. deafness-hypogonadism syndrome DHS deafness hypogonadism syndrome deafness-hypogonadism syndrome https://rarediseases.info.nih.gov/diseases/1691/deafness-hypogonadism-syndrome MONDO:0010576 X-linked mixed deafness with perilymphatic gusher, also known as X-linked deafness type 2, is a rare form of non-syndromic genetic deafnesss affecting males and characterized by pathognomonic inner ear anomalies and conductive and profound sensorineural hearing loss. The inner ear anomalies are described as dilatation of the internal auditory meatus and fistulous connection between the cochlear basal turn and internal auditory canal resulting in perilympatic gusher on attempted mobilization of a fixed stapes. Obligate female carriers may suffer from mild to moderate hearing loss. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 central hearing loss high frequency deafness high frequency hearing loss high-frequency hearing loss perceptive deafness perceptive hearing loss perceptive hearing loss or deafness sensorineural deafness sensorineural hearing loss sensory hearing loss DFNX2 X-linked mixed conductive and neurosensory hearing loss X-linked mixed conductive and sensorineural hearing loss X-linked stapes gusher syndrome Nance deafness X-linked deafness type 2 X-linked mixed conductive and neurosensory deafness X-linked mixed conductive and sensorineural deafness X-linked mixed deafness with perilymphatic gusher conductive deafness with stapes fixation deafness mixed with perilymphatic gusher, X-linked deafness, X-linked 2, X-linked recessive deafness, X-linked type 2 DFN 3 nonsyndromic hearing loss and deafness DFN3 deafness 3 conductive with stapes fixation deafness 3, conductive, with stapes fixation deafness conductive with stapes fixation deafness mixed with perilymphatic gusher deafness, X-linked 2 deafness, conductive, with stapes fixation deafness, mixed, with perilymphatic gusher gusher syndrome perilymphatic gusher-deafness syndrome sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental Abnormality of the Ear X-linked mixed hearing loss with perilymphatic gusher MONDO:0010577 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNX1 deafness, X-linked 1 deafness, X-linked 2, sensorineural congenital deafness, X-linked type 1 hearing loss, X-linked 1 MONDO:0010578 An X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards. https://github.com/monarch-initiative/mondo/issues/4521 DDON syndrome Mohr-Tranebjaerg syndrome Mohr-Tranebjaerg syndrome, X-linked recessive deafness dystonia optic atrophy syndrome deafness dystonia optic neuronopathy syndrome deafness dystonia optic neuronopathy syndrome (DDON) deafness dystonia syndrome deafness-dystonia-optic neuronopathy syndrome dystonia deafness syndrome DDP MOHR-Tranebjaerg syndrome MTS deafness - dystonia - optic neuronopathy syndrome deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency deafness-Dystonia-optic atrophy syndrome deafness-dystonia-optic neuronopathy (DDON) syndrome dystonia-deafness syndrome deafness dystonia syndrome MONDO:0010579 X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders.No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission. Guízar Vázquez-Luengas-muñoz syndrome corneal dystrophy epithelial-short stature syndrome CND Guizar-Vazquez Luengas-Munoz syndrome bilateral corneal dermoids corneal dermoids and short stature dermoids of cornea X-linked corneal dermoid https://rarediseases.info.nih.gov/diseases/2580/dermoids-of-cornea MONDO:0010580 Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections. https://github.com/monarch-initiative/mondo/issues/4521 DMSD IDDM-secretory diarrhea syndrome IPEX X linked polyendocrinopathy X-linked autoimmunity-allergic dysregulation syndrome XLAAD XPID autoimmune enteropathy type 1 autoimmunity-immunodeficiency syndrome, X-linked diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked immune dysfunction and diarrhea syndrome immune dysregulation, polyendocrinopathy, and enteropathy X-linked syndrome immunodeficiency, polyendocrinopathy, and enteropathy, X-linked immunodysregulation, polyendocrinopathy, and enteropathy, X-linked immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, X-linked recessive IDDM secretory diarrhea syndrome IMMUNODYSREGULATION, polyendocrinopathy, and enteropathy, X-linked IPEX syndrome Iddm-secretory diarrhea syndrome Immunodysregulation, polyendocrinopathy and enteropathy X-linked autoimmunity-immunodeficiency syndrome X-linked enteropathy, autoimmune, with hemolytic Anemia and polyendocrinopathy immunodeficiency, polyendocrinopathy, and enteropathy, X-linked, formerly islets of Langerhans, absence of polyendocrinopathy, immune dysfunction and diarrhea X-linked polyendocrinopathy, immune dysfunction, and diarrhea, X-linked immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome MONDO:0010581 https://github.com/monarch-initiative/mondo/issues/4521 diabetes insipidus, nephrogenic, 1, X-linked recessive diabetes insipidus, nephrogenic, X-linked Ndi diabetes insipidus, nephrogenic, type 1 diabetes insipidus, nephrogenic, X-linked MONDO:0010583 X-linked form of Dyggve-Melchior-Clausen disease. Dyggve-Melchior-Clausen disease, X-linked Dyggve-Melchior-Clausen syndrome, X-linked X-linked Dyggve-Melchior-Clausen disease Dyggve-Melchior-Clausen syndrome, X-linked MONDO:0010584 X-linked form of dyskeratosis congenita. https://github.com/monarch-initiative/mondo/issues/4521 DKCX Hoyeraal Hreidarsson syndrome X-linked dyskeratosis congenita Zinsser-Cole-Engman syndrome dyskeratosis congenita, X-linked dyskeratosis congenita, X-linked, X-linked recessive Growth retardation, prenatal, with progressive pancytopenia and cerebellar hypoplasia cerebellar hypoplasia with pancytopenia dyskeratosis congenita X-linked dyskeratosis congenita, X-linked MONDO:0010585 An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ectodysplasin. https://github.com/monarch-initiative/mondo/issues/4104 https://github.com/monarch-initiative/mondo/issues/4521 Christ-Siemens-Touraine syndrome X-linked anhidrotic ectodermal dysplasia X-linked hypohidrotic ectodermal dysplasia XHED ectodermal dysplasia 1, hypohidrotic, X-linked, X-linked recessive hypohidrotic ectodermal dysplasia, X-linked CST syndrome Eda1 Xlhed anhidrotic ectodermal dysplasia X-linked ectodermal dysplasia 1 ectodermal dysplasia 1, hypohidrotic, X-linked ectodermal dysplasia 1, hypohidrotic/hair/Tooth type, X-linked ectodermal dysplasia, anhidrotic, X-linked ectodermal dysplasia, hypohidrotic, 1 hypohidrotic ectodermal dysplasia X-linked X-linked hypohidrotic ectodermal dysplasia MONDO:0010586 Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. EDS type V is characterised by hyperextensible skin but tissue fragility and joint hyperlaxity are mild. This form of EDS is very rare and has been described in only two families so far. Other reported features include congenital heart disease, hernias and short stature. Transmission is X-linked recessive. EDS V Ehlers-Danlos syndrome type 5 Ehlers-Danlos syndrome, X-linked EDS 5 EDS5 Ehlers-Danlos syndrome, type 5 Ehlers-Danlos syndrome, type V X-linked Ehlers-Danlos syndrome MONDO:0010587 X-linked form of epidermodysplasia verruciformis. X-linked epidermodysplasia verruciformis epidermodysplasia verruciformis, X-linked EDV2 EDVX epidermodysplasia verruciformis, X-linked MONDO:0010588 Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the NDP gene. https://github.com/monarch-initiative/mondo/issues/4521 NDP exudative vitreoretinopathy exudative vitreoretinopathy 2, X-linked exudative vitreoretinopathy 2, X-linked, X-linked recessive, X-linked dominant exudative vitreoretinopathy caused by mutation in NDP EVR2 Evrx Fevr, X-linked exudative vitreoretinopathy, familial, 2 exudative vitreoretinopathy 2, X-linked MONDO:0010589 Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature. https://github.com/monarch-initiative/mondo/issues/4521 AAS Aarskog disease Aarskog syndrome Aarskog-Scott syndrome Aarskog-like syndrome FGD FGDY Scott Aarskog syndrome facio-digito-genital dysplasia faciodigitogenital syndrome faciodigitogenital syndrome, recessive faciogenital dysplasia Aarskog syndrome, X-linked Aarskog-Scott syndrome, X-linked Aarskog-Scott syndrome, X-linked recessive mental retardation, X-linked syndromic 16, X-linked recessive MRXS16, included mental retardation, X-linked, syndromic 16 mental retardation, X-linked, syndromic 16, included Aarskog Scott syndrome faciogenital dysplasia with attention Deficit-hyperactivity disorder Aarskog-Scott syndrome, X-linked MONDO:0010590 Any FG syndrome in which the cause of the disease is a mutation in the MED12 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 FG syndrome 1 FG syndrome caused by mutation in MED12 MED12 FG syndrome Opitz-Kaveggia syndrome, X-linked recessive FG syndrome FG syndrome type 1 Keller syndrome OKS Opitz-Kaveggia syndrome intellectual disability, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum FG syndrome 1 MONDO:0010591 Fingerprint body myopathy is a congenital benign muscle disorder characterised by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is unknown. Less than 20 patients have been described. Few sporadic cases have been observed, as well as cases of recessive transmission. fingerprint body myopathy fingerprint body myopathy https://rarediseases.info.nih.gov/diseases/12720/fingerprint-body-myopathy MONDO:0010592 A syndrome characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 Goltz syndrome Goltz-Gorlin syndrome focal dermal hypoplasia focal dermal hypoplasia, X-linked dominant DHOF FDH Fodh Goltz Gorlin syndrome focal dermal hypoplasia MONDO:0010595 Sertoli cell-only syndrome (SCO syndrome) is a cause of male infertility. In SCO syndrome, only Sertoli cells (cells that nurture the immature sperm) line the seminiferous tubules (tubes inside the testicles where sperm develop). Therefore, there are not any sperm cells present in the seminiferous tubules. Men typically learn they are affected between ages 20-40 years when being evaluated for infertility and are found to have no sperm production (azoospermia). Other signs and symptoms are rare, but in some cases there could be an underlying cause of SCO syndrome that causes other symptoms, such as Klinefelter syndrome. Most cases of SCO syndrome are idiopathic (of unknown cause), but causes may include deletions of genetic information on regions of the Y-chromosome, especially on the azoospermia factor (AZF) region of Y-chromosome. Other causes include exposure to chemicals or toxins, history of radiation therapy, and history of severe trauma. Diagnosis of SCO syndrome is confirmed with testicular biopsy. Although there is currently no effective treatment, assisted reproductive technology may assist some men with SCO syndrome in being able to have children. DEL CASTILLO syndrome Germinal cell aplasia Sertoli cell-only syndrome Del Castillo syndrome Editor note: consider moving OMIMPS from azoospermia to here Sertoli cell-only syndrome https://rarediseases.info.nih.gov/diseases/8406/sertoli-cell-only-syndrome MONDO:0010596 membranoproliferative glomerulonephritis, X-linked Mesangiocapillary glomerulonephritis, X-linked membranoproliferative glomerulonephritis, X-linked MONDO:0010597 glutamyl ribose-5-phosphate storage disease ADP-ribose Protein hydrolase deficiency glutamyl ribose-5-phosphate storage disease MONDO:0010598 Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK activity in liver or erythrocytes. https://github.com/monarch-initiative/mondo/issues/2128 https://github.com/monarch-initiative/mondo/issues/4521 glycogen storage disease IXa GSD type 9A GSD type IXa GSD9A PHKA2 glycogen storage disease PHKA2-related glycogen storage disease type IX glycogen storage disease IXa1 glycogen storage disease VIII glycogen storage disease caused by mutation in PHKA2 glycogen storage disease type 9A glycogen storage disease type IXa glycogen storage disease type VIII glycogen storage disease, type IXa1, X-linked recessive glycogen storage disease, type IXa2, X-linked recessive glycogenosis type 9A glycogenosis type IXa glycogenosis type VIII hepatic glycogen phosphorylase kinase deficiency GSD VIII GSD VIII, formerly GSD9A1 PYKL glycogen storage disease 8 glycogen storage disease VIII, formerly glycogenosis type 8 hepatic phosphorylase kinase deficiency liver glycogenosis, X-linked, type 1 phosphorylase kinase deficiency of liver glycogen storage disease IXa1 https://rarediseases.info.nih.gov/diseases/6538/glycogen-storage-disease-8 MONDO:0010599 granulomas, congenital cerebral congenital cerebral granulomas granulomas, congenital cerebral https://rarediseases.info.nih.gov/diseases/8368/granulomas-congenital-cerebral MONDO:0010600 https://github.com/monarch-initiative/mondo/issues/3797 https://github.com/monarch-initiative/mondo/issues/4521 CDGX CGD chronic granulomatous disease, X-linked chronic granulomatous disease, X-linked, X-linked recessive chronic granulomatous disease, atypical cytochrome B-negative granulomatous disease, chronic, X-linked cytochrome B-positive granulomatous disease, chronic, X-linked granulomatous disease, chronic, X-linked granulomatous disease, chronic, X-linked, variant granulomatous disease, chronic, autosomal dominant type granulomatous disease, chronic, X-linked MONDO:0010602 The most common form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency. https://github.com/monarch-initiative/mondo/issues/4521 Subhemophilia congenital factor VIII disorder factor VIII deficiency hemophilia A hemophilia a, X-linked recessive hemophilia type A hemophilia type a hereditary Factor VIII deficiency hereditary Factor VIII deficiency disease HEMA Haemophilia A autosomal hemophilia a classic hemophilia classical hemophilia factor 8 deficiency hem A hemophilia A, congenital hemophilia, classic hemophilia A MONDO:0010603 hemophilia A with vascular abnormality hemophilia A with vascular abnormality MONDO:0010604 Hemophilia B is a form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency. https://github.com/monarch-initiative/mondo/issues/4521 Christmas disease congenital factor IX deficiency congenital factor IX disorder deficiency, functional factor IX factor IX deficiency hemophilia B hemophilia b, X-linked recessive hemophilia type B hereditary Factor IX deficiency hereditary Factor IX deficiency disease F9 deficiency HEMB factor 9 deficiency hem B hemophilia B Leyden hemophilia B(M) plasma thromboplastin component deficiency hemophilia B https://rarediseases.info.nih.gov/diseases/8732/hemophilia-b MONDO:0010605 hemopoietic proliferation hemopoietic proliferation MONDO:0010606 hernia, anterior diaphragmatic hernia, anterior diaphragmatic MONDO:0010607 X-linked visceral heterotaxy type 1 is a very rare form of heterotaxy that has only been reported in a few families. Heterotaxy is the right/left transposition of thoracic and/or abdominal organs. This condition is caused by mutations in the ZIC3 gene, is inherited in an X-linked recessive fashion, and is usually seen in males. Physical features include heart abnormalities such as dextrocardia, transposition of great vessels, ventricular septal defect, patent ductus arteriosus, pulmonic stenosis ; situs inversus, and missing (asplenia) and/or extra spleens (polysplenia).Affected individualscan also experience abnormalities in the development of the midline of the body, which can cause holoprosencephaly, myelomeningocele, urological anomalies, widely spaced eyes (hypertelorism), cleft palate, and abnormalities of the sacral spine and anus. Heterotaxia with recurrent respiratory infections are called primary ciliary dyskinesia. https://github.com/monarch-initiative/mondo/issues/4521 ZIC3 visceral heterotaxy congenital heart defects, nonsyndromic, 1, X-linked, X-linked recessive heterotaxy, visceral, 1, X-linked heterotaxy, visceral, 1, X-linked, X-linked recessive visceral heterotaxy caused by mutation in ZIC3 HTX1 X-linked visceral heterotaxy 1 congenital heart defects, multiple types, 1, X-linked dextrocardia with Other Cardiac malformations heterotaxy, visceral, X-linked laterality, X-linked situs inversus, Complex Cardiac defects, and splenic defects, X-linked heterotaxy, visceral, 1, X-linked https://rarediseases.info.nih.gov/diseases/8591/x-linked-visceral-heterotaxy-1 MONDO:0010608 Hhhh syndrome hereditary Hemihypotrophy hemiparesis hemiathetosis syndrome Hhhh syndrome MONDO:0010610 An extremely rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. An X-linked recessive inheritance has been suggested. https://github.com/monarch-initiative/mondo/issues/4069 Morse-Rawnsley-Sargent syndrome holoprosencephaly-fetal akinesia/hypokinesia sequence syndrome holoprosencephaly with fetal akinesia/hypokinesia sequence holoprosencephaly-hypokinesia-congenital contractures syndrome MONDO:0010611 A form of L1 syndrome caused by changes in the L1CAM gene characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis. https://github.com/monarch-initiative/mondo/issues/4521 Bickers-Adams syndrome HSAS X-linked HSAS X-linked acqueductal stenosis X-linked hydrocephalus X-linked hydrocephalus with stenosis of aqueduct of Sylvius X-linked hydrocephalus with stenosis of the aqueduct of Sylvius hydrocephalus due to aqueductal stenosis, X-linked recessive hydrocephalus with congenital idiopathic intestinal pseudoobstruction, X-linked recessive hydrocephalus with hirschsprung disease, X-linked recessive hydrocephalus with stenosis of the aqueduct of Sylvius HSAS1 HYCX XLAS aqueductal stenosis, X-linked hydrocephalus due to congenital stenosis of aqueduct of Sylvius hydrocephalus, X-linked hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction X-linked hydrocephalus with stenosis of the aqueduct of Sylvius MONDO:0010612 This syndrome is characterised by infantile hypotonia followed by onset of ataxia, cataract and intellectual deficit by preschool age. Cerebral atrophy was also reported. X-linked hydrocephalus-cerebellar agenesis-intellectual disability syndrome cerebellum agenesis hydrocephaly hydrocephalus with cerebellar agenesis hydrocephaly-cerebellar agenesis syndrome https://rarediseases.info.nih.gov/diseases/1200/cerebellum-agenesis-hydrocephaly MONDO:0010613 An acquired metabolic disease that has its basis in the disruption of glycerol kinase activity. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5373 glycerol kinase deficiency glycerol kinase deficiency, X-linked recessive inborn error of glycerol kinase activity inborn glycerol kinase activity disorder rare inborn error of glycerol kinase activity GK deficiency GK1 deficiency GKD hyperglycerolemia inborn glycerol kinase deficiency MONDO:0010614 X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 Macias Flores-Garcia Cruz-Rivera syndrome congenital generalized hypertrichosis, Macias-Flores type hypertrichosis, congenital generalized, X-linked dominant Cgh HTC2 Macias-Flores Garcia-Cruz Rivera syndrome chromosome Xq27.1 Interchromosomal insertion syndrome chromosome Xq27.1 interchromosomal insertion syndrome hCG hypertrichosis congenital generalized X-linked hypertrichosis, congenital generalized X-linked congenital generalized hypertrichosis https://rarediseases.info.nih.gov/diseases/2863/x-linked-congenital-generalized-hypertrichosis MONDO:0010615 https://github.com/monarch-initiative/mondo/issues/4521 Fleisher syndrome IGHD III X-linked IGHD X-linked agammaglobulinemia and isolated growth hormone deficiency X-linked hypogammaglobulinemia and isolated growth hormone deficiency X-linked isolated growth hormone deficiency congenital IGHD type III congenital isolated GH deficiency type III congenital isolated growth hormone deficiency type III growth hormone deficiency with hypogammaglobulinemia isolated growth hormone deficiency type III isolated growth hormone deficiency, type IIi, with agammaglobulinemia, X-linked recessive Growth hormone deficiency with hypogammaglobulinemia IGHD 3 IGHD3 agammaglobulinemia and isolated Growth hormone deficiency, X-linked hypogammaglobulinemia and isolated Growth hormone deficiency, X-linked isolated growth hormone deficiency type 3 isolated growth hormone deficiency, type 3 isolated growth hormone deficiency, type III isolated growth hormone deficiency type III https://rarediseases.info.nih.gov/diseases/3921/isolated-growth-hormone-deficiency-type-3 MONDO:0010617 This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus. https://github.com/monarch-initiative/mondo/issues/5588 Sohval-Soffer syndrome hypogonadism, MALE, with intellectual disability and skeletal anomalies hypogonadism, MALE, with mental retardation and skeletal anomalies male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome MONDO:0010618 Hypoparathyroidism in which the inheritance is recessive and linked to the q26-q27 region of the X chromosome. The parathyroid glands are usually incompletely developed (parathyroid dysgenesis) or absent (parathyroid agenesis). X-linked hypoparathyroidism HYPX hypoparathyroidism, X-linked parathyroid glands, agenesis of familial isolated hypoparathyroidism due to agenesis of parathyroid gland MONDO:0010619 X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth. https://github.com/monarch-initiative/mondo/issues/2844 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 X-linked hypophosphatemia X-linked hypophosphatemic rickets X-linked dominant hypophosphatemic rickets X-linked hereditary hypophosphatemic rickets XLH hereditary hypophosphatemic rickets, X-linked hypophosphatemia, vitamin D-resistant rickets hypophosphatemic rickets X-linked dominant hypophosphatemic rickets, X-linked hypophosphatemic rickets, X-linked dominant, X-linked dominant rickets, vitamin D-resistant vitamin D-resistant rickets, X-linked HPDR HYP XLHR hypophophatemia, X-linked hypophophatemic vitamin D-resistant rickets hypophosphatemia, X-linked hypophosphatemic rickets, X-linked dominant hypophosphatemic vitamin D-resistant rickets X-linked dominant hypophosphatemic rickets MONDO:0010620 hypouricemia, familial renal, due to tubular hypersecretion hypouricemia, familial renal, due to tubular hypersecretion MONDO:0010621 CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 CHILD syndrome CHILD syndrome, X-linked dominant child nevus child syndrome congenital hemidysplasia with ichthyosiform nevus and limbs defects congenital hemidysplasia with ichthyosiform erythroderma and limb defects congenital hemidysplasia with ichthyosiform nevus and limb defects ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs ichthyosis, child syndrome CHILD syndrome https://rarediseases.info.nih.gov/diseases/6039/child-syndrome MONDO:0010622 A genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin. https://github.com/monarch-initiative/mondo/issues/2114 https://github.com/monarch-initiative/mondo/issues/4521 RXLI X-linked ichthyosis X-linked ichthyosis with steryl-sulphatase deficiency X-linked placental steryl-sulphatase deficiency X-linked recessive ichthyosis XLI ichthyosis (disease), X-linked ichthyosis , X-linked, X-linked recessive recessive X-linked ichthyosis steroid sulfatase deficiency SSDD STS deficiency X linked ichthyosis ichthyosis, X-linked ichthyosis, X-linked, complicated placental steroid sulfatase deficiency steroid sulfatase deficiency disease There are both syndromic and non-syndromic forms of this disease (PMID:20643494). recessive X-linked ichthyosis MONDO:0010623 Ichthyosis-male hypogonadism syndrome ichthyosis and male hypogonadism Ruds rud syndrome ichthyosis and male hypogonadism MONDO:0010625 immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein Gpl115 deficiency immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein MONDO:0010626 The X-linked variant of the Hyper-IgM syndrome. The affected individuals are virtually always male, because males only have one X chromosome, received from their mothers. Their mothers are not symptomatic, even though they are carriers of the allele, because the trait is recessive. Male offspring of these women have a 50% chance of inheriting their mother's mutant allele. https://github.com/monarch-initiative/mondo/issues/4521 HIGM1 HIGMX-1 X-linked hyper-IgM syndrome XHIGM hyper-IgM syndrome due to CD40 ligand deficiency hyper-IgM syndrome due to CD40L deficiency hyper-IgM syndrome type 1 hyper-IgM syndrome, X-linked hyperimmunoglobulin M syndrome immunodeficiency, X-linked, with hyper-IgM, X-linked recessive CD40 ligand deficiency HIGM IHIS X-linked hyper IgM syndrome XHIM hyper IgM immunodeficiency, X-linked hyper IgM syndrome hyper IgM syndrome 1 hyper-IgM immunodeficiency, X-linked hyper-IgM syndrome hyper-IgM syndrome 1 immunodeficiency 3 immunodeficiency with hyper IgM type 1 immunodeficiency with hyper-IgM, type 1 This variant of the hyper-IgM syndrome is caused by mutation of the CD40LG gene. The genetic locus for this gene is Xq26. This gene codes for the CD40 ligand, which is expressed on T cells. When the CD40 ligand binds CD40 on B cells, then the B cell switches from producing IgM to producing IgA or IgG. hyper-IgM syndrome type 1 https://rarediseases.info.nih.gov/diseases/73/immunodeficiency-with-hyper-igm-type-1 MONDO:0010627 X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV). Duncan disease Purtilo syndrome X-linked lymphoproliferative syndrome X-linked lymphoproliferative syndrome type 1 XLP XLP1 lymphoproliferative syndrome, X-linked lymphoproliferative syndrome, X-linked, type 1 SH2D1A-related lymphoproliferative disease, X-linked X-linked lymphoproliferative disease X-linked lymphoproliferative syndrome 1 lymphoproliferative syndrome X-linked 1 lymphoproliferative syndrome, X-linked, 1 Editor note: two OMIMPS X-linked lymphoproliferative syndrome https://rarediseases.info.nih.gov/diseases/7906/x-linked-lymphoproliferative-syndrome-1 MONDO:0010628 immunoglobulin M, level of immunoglobulin M, level of MONDO:0010629 impacted teeth, multiple impacted teeth, multiple MONDO:0010630 imprinting gene related to retinoblastoma imprinting gene related to retinoblastoma MONDO:0010631 Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS). https://github.com/monarch-initiative/mondo/issues/4521 Bloch-Siemens syndrome Bloch-Sulzberger syndrome Incontinentia pigmenti syndrome incontinentia pigmenti incontinentia pigmenti, X-linked dominant IP IP2 (formerly) Incontinentia pigmenti type 2 (formerly) Incontinentia pigmenti, familial Male-lethal type Incontinentia pigmenti, type II Incontinentia pigmenti, type II, formerly incontinentia pigmenti MONDO:0010632 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARX gene. https://github.com/monarch-initiative/mondo/issues/4521 ARX early infantile epileptic encephalopathy DEE1 EIEE1 arx early infantile epileptic encephalopathy developmental and epileptic encephalopathy 1, X-linked recessive early infantile epileptic encephalopathy caused by mutation in ARX early infantile epileptic encephalopathy caused by mutation in arx epileptic encephalopathy, early infantile, 1 epileptic encephalopathy, early infantile, type 1 Ohtahara syndrome, X-linked West syndrome, X-linked XMESID infantile epileptic-dyskinetic encephalopathy infantile spasm syndrome, X-linked 1 developmental and epileptic encephalopathy, 1 MONDO:0010633 iris hypoplasia with glaucoma IHG iris hypoplasia and glaucoma iris hypoplasia with glaucoma https://rarediseases.info.nih.gov/diseases/9171/iris-hypoplasia-and-glaucoma MONDO:0010634 jaundice, familial obstructive, of infancy jaundice, familial obstructive, of infancy MONDO:0010635 The X-linked inherited form of Kallmann syndrome caused by mutation of the KAL1 gene mapped to chromosome Xp22.3. https://github.com/monarch-initiative/mondo/issues/4521 ANOS1 hypogonadotropic hypogonadism dysplasia olfactogenitalis of de Morsier hypogonadotropic hypogonadism 1 with or without anosmia hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), X-linked recessive hypogonadotropic hypogonadism caused by mutation in ANOS1 HH1 KAL1 KMS Kallmann syndrome 1 Kallmann syndrome, X-linked Kallmann syndrome, type 1, X-linked anosmic hypogonadism dysplasia Olfactogenitalis of De Morsier hypogonadotropic hypogonadism and anosmia hypogonadotropic hypogonadism 1 with or without anosmia MONDO:0010636 Kallmann syndrome with spastic paraplegia spastic paraplegia-Kallmann syndrome Kallmann syndrome with spastic paraplegia MONDO:0010637 https://github.com/monarch-initiative/mondo/issues/4521 keratosis follicularis spinulosa decalvans, X-linked keratosis follicularis spinulosa decalvans, X-linked, X-linked recessive KFSDX Kfsdx keratosis follicularis SPINULOSA decalvans, X-linked keratosis follicularis Spinulosa decalvans cum Ophiasi keratosis follicularis spinulosa decalvans keratosis follicularis spinulosa decalvans cum ophiasi keratosis follicularis spinulosa decalvans, X-linked MONDO:0010638 A syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. It has been described in six males from one family (three boys and three maternal uncles). Generalized alopecia and microcephaly were also present. dwarfism, cerebral atrophy and generalized keratosis follicularis keratosis follicularis dwarfism and cerebral atrophy keratosis follicularis, dwarfism, and cerebral atrophy keratosis follicularis-dwarfism-cerebral atrophy syndrome https://rarediseases.info.nih.gov/diseases/3099/keratosis-follicularis-dwarfism-and-cerebral-atrophy MONDO:0010639 Laryngeal abductor paralysis-intellectual disability syndrome is characterised by congenital and permanent laryngeal abductor paralysis, associated, in the majority of cases, with intellectual deficit. It has been described in several families. X-linked inheritance is likely. Plott syndrome laryngeal abductor paralysis vocal cord dysfunction, familial X linked version based on information from Joanna. laryngeal abductor paralysis-intellectual disability syndrome MONDO:0010640 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 Leber hereditary optic neuropathy, modifier of, X-linked dominant Leber optic atrophy, susceptibility to Leber hereditary optic neuropathy, modifier of Lhon, modifier of Loas Leber optic atrophy, susceptibility to MONDO:0010641 The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families. https://github.com/monarch-initiative/mondo/issues/3664 Xq22.3 microdeletion syndrome ATS-DL Alport syndrome and diffuse leiomyomatosis Alport syndrome with diffuse leiomyomatosis DL-ATS chromosome Xq22.3 centromeric deletion syndrome diffuse leiomyomatosis in Alport syndrome leiomyomatosis, diffuse, with Alport syndrome leiomyomatosis, esophageal and vulval, with nephropathy X-linked diffuse leiomyomatosis-Alport syndrome MONDO:0010642 Lesch-Nyhan phenotype with normal HGPRT Lesch-Nyhan phenotype with normal HGPRT MONDO:0010643 A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts). acute leukemia acute leukemia (disease) leukemia, acute, X-linked stem cell leukaemia stem cell leukemia stem cell leukemia (disease) acute leukemia MONDO:0010644 https://github.com/monarch-initiative/mondo/issues/4521 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, X-linked recessive Editor note: ORDO inclides a btnt xref to this from Dent disease type 1, presumably due to the fact proteinuria is sometimes a feature of dent disease. We capture this separately in annotations proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis MONDO:0010645 Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure. https://github.com/monarch-initiative/mondo/issues/4521 Lowe disease Lowe oculo-cerebro-renal syndrome Lowe oculocerebrorenal syndrome Lowe syndrome Lowe syndrome, X-linked recessive OCR OCRL oculo-cerebro-renal dystrophy oculo-cerebro-renal syndrome oculocerebrorenal dystrophy oculocerebrorenal syndrome oculocerebrorenal syndrome of Lowe phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency Ocrl1 phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency oculocerebrorenal syndrome MONDO:0010646 macular dystrophy, X-linked macular dystrophy, X-linked MONDO:0010647 Any azoospermia in which the cause of the disease is a mutation in the TEX11 gene. https://github.com/monarch-initiative/mondo/issues/4521 TEX11 azoospermia azoospermia caused by mutation in TEX11 spermatogenic failure, X-linked, 2 spermatogenic failure, X-linked, 2, X-linked recessive spermatogenic failure, X-linked, type 2 Male infertility from defect in meiosis SPGFX2 spermatogenic failure, X-linked, 2 MONDO:0010648 https://github.com/monarch-initiative/mondo/issues/4521 MAFD2 major affective disorder 2 major affective disorder 2, X-linked dominant MAJOR affective disorder 2 bipolar affective disorder manic-depressive illness manic-depressive psychosis, X-linked major affective disorder 2 MONDO:0010649 Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 congenital anterior megalophthalmia isolated congenital megalocornea megalocornea 1, X-linked, X-linked recessive MGC1 Mgcn megalocornea isolated congenital megalocornea MONDO:0010650 A otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5588 Melnick-Needles osteodysplasty Melnick-Needles syndrome Melnick-Needles syndrome, X-linked dominant MELNICK-NEEDLES syndrome MNS osteodysplasty of Melnick and Needles Melnick-Needles syndrome https://rarediseases.info.nih.gov/diseases/7011/melnick-needles-syndrome MONDO:0010651 A usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair. https://github.com/monarch-initiative/mondo/issues/4521 copper transport disease MD MNK Menkes disease Menkes kinky hair syndrome Menkes kinky-hair syndrome Menkes syndrome Mk Trichopoliodystrophy X-linked copper deficiency kinky hair disease kinky hair syndrome menkes disease, X-linked recessive steely hair disease steely hair syndrome Menkea syndrome Menkes disease https://rarediseases.info.nih.gov/diseases/1521/menkes-disease MONDO:0010652 X-linked intellectual disability-seizures-psoriasis syndrome has been described in four male cousins. The mode of inheritance is thought to be X-linked recessive. https://github.com/monarch-initiative/mondo/issues/5588 Tranebjaerg-Svejgaard syndrome Tranebjaerg Svejgaard syndrome X-linked intellectual disability - seizures - psoriasis X-linked intellectual disability associated with psoriasis X-linked mental retardation associated with psoriasis intellectual disability X-linked, Tranebjaerg type seizures and psoriasis intellectual disability and psoriasis mental retardation X-linked, Tranebjaerg type seizures and psoriasis mental retardation and psoriasis X-linked intellectual disability-seizures-psoriasis syndrome MONDO:0010653 An X-linked syndrome characterized by intellectual deficiency, microcephaly, leanness and mild short stature. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 Golabi-Ito-Hall syndrome Renpenning syndrome Renpenning syndrome type 1 Sutherland-Haan X-linked intellectual disability syndrome Sutherland-Haan X-linked mental retardation syndrome X-linked intellectual disability Renpenning type X-linked intellectual disability due to PQBP1 mutations X-linked intellectual disability with spastic diplegia X-linked intellectual disability, Renpenning type X-linked mental retardation Renpenning type X-linked mental retardation with spastic diplegia renpenning syndrome, X-linked recessive syndromic X-linked intellectual disability 8 syndromic X-linked mental retardation 8 MRXS3 MRXS8 RENS1 Renpenning syndrome 1 Sutherland-Haan syndrome X-linked intellectual disability syndromic 3 X-linked mental retardation syndromic 3 intellectual disability, X-linked 55 intellectual disability, X-linked Renpenning type intellectual disability, X-linked, Renpenning type intellectual disability, X-linked, syndromic 3 intellectual disability, X-linked, syndromic 8 intellectual disability, X-linked, with spastic diplegia mental retardation, X-linked 55 mental retardation, X-linked Renpenning type mental retardation, X-linked, Renpenning type mental retardation, X-linked, syndromic 3 mental retardation, X-linked, syndromic 8 mental retardation, X-linked, with spastic diplegia Renpenning syndrome MONDO:0010654 A rare neurological condition that is primarily characterized by mild to moderate intellectual disability and dystonia of the hands. Other signs and symptoms may include dysarthria, behavioral abnormalities, recurrent seizures and/or an unusual gait (style of walking). Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. It is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 Partington syndrome Partington syndrome, X-linked recessive Partington-Mulley syndrome X-linked Russell-Silver syndrome X-linked intellectual disability-dystonia-dysarthria syndrome MRXS1 PRTS Partington X-linked intellectual disability syndrome Partington X-linked mental retardation syndrome intellectual disability, X-linked 36 intellectual disability, X-linked, syndromic 1 intellectual disability, X-linked, with dystonic movements, ataxia, and seizures intellectual disability-dystonic movements-ataxia-seizures syndrome mental retardation, X-linked 36 mental retardation, X-linked, syndromic 1 mental retardation, X-linked, with dystonic movements, ataxia, and seizures Partington syndrome MONDO:0010655 The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 Lujan syndrome Lujan-Fryns syndrome Lujan-Fryns syndrome, X-linked recessive LUJAN-Fryns syndrome Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size and distinct craniofacial anomalies intellectual disability, X-linked, with Marfanoid habitus mental retardation, X-linked, with Marfanoid habitus X-linked intellectual disability with marfanoid habitus MONDO:0010656 An X-linked dominant condition caused by mutation(s) in the IQSEC2 gene, encoding IQ motif and SEC7 domain-containing protein 2. It is characterized by substantially impaired intellectual functioning and behavioral abnormalities. https://github.com/monarch-initiative/mondo/issues/4521 MRX MRX1 MRX78 intellectual developmental disorder, X-linked 1, X-linked dominant intellectual disability, X-linked 1 mental retardation, X-linked 1 mental retardation, X-linked 18 mental retardation, X-linked 78 mental retardation, X-linked type 1 IQSEC2 IQSEC2-related epilepsy IQSEC2-related intellectual disability X-linked intellectual disability 1 X-linked intellectual disability 1/78 X-linked intellectual disability 78 intellectual disability, X-linked 1 MONDO:0010657 https://github.com/monarch-initiative/mondo/issues/4521 combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX methylmalonic aciduria and homocysteinemia, cblx type, X-linked recessive methylmalonic aciduria with homocystinuria, type cblX intellectual disability, X-linked 3 mental retardation, X-linked 3 methylmalonic acidemia and HOMOCYSTEINEMIA, cblX type methylmalonic acidemia and homocysteinemia type cblX methylmalonic acidemia with homocystinuria, type cblX MONDO:0010658 X-linked intellectual disability, Wilson type is characterised by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localised to the 11p region of the X chromosome. https://github.com/monarch-initiative/mondo/issues/5588 X-linked intellectual disability, Wilson type intellectual disability, X-linked, syndromic 12 mental retardation, X-linked, syndromic 12 syndromic X-linked intellectual disability type 12 MRXS12 syndromic X-linked intellectual disability 12 MONDO:0010659 A nonsyndromic X-linked mental retardation (NS-XLMR) characterized by mild intellectual deficit. FRAXE is the most common form of NS-XLMR. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 FRAXE intellectual disability intellectual developmental disorder, X-linked 109, X-linked recessive intellectual disability associated with fragile site FRAXE FRAXE intellectual disability syndrome FRAXE mental retardation syndrome FRAXE syndrome X-linked intellectual disability associated with fragile site FRAXE X-linked mental retardation associated with fragile site FRAXE fragile XE syndrome fragile site, folic acid type intellectual disability, X-linked, associated with fragile site FRAXE mental retardation, X-linked, associated with fragile site FRAXE FRAXE intellectual disability https://rarediseases.info.nih.gov/diseases/2378/fragile-xe-syndrome MONDO:0010660 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FTSJ1 gene. https://github.com/monarch-initiative/mondo/issues/4521 FTSJ1 non-syndromic X-linked intellectual disability intellectual developmental disorder, X-linked 9, X-linked recessive intellectual disability, X-linked 9 intellectual disability, X-linked type 9 mental retardation, X-linked type 9 non-syndromic X-linked intellectual disability caused by mutation in FTSJ1 MRX9 intellectual disability, X-linked 44 mental retardation, X-linked 44 mental retardation, X-linked 9 intellectual disability, X-linked 9 MONDO:0010661 Severe X-linked intellectual disability, Gustavson type is characterised by X-linked intellectual disability, microcephaly, optical atrophy with impaired vision or blindness, a severe hearing defect, facial dysmorphology, spasticity, epileptic seizures and restricted joint movement. It has been described in seven children from two generations of a Swedish family. All patients died in during early childhood. https://github.com/monarch-initiative/mondo/issues/5588 Gustavson syndrome X-linked intellectual disability Gustavson type X-linked mental retardation Gustavson type gust intellectual disability X-linked severe Gustavson type intellectual disability with optic atrophy, deafness, and seizures mental retardation X-linked severe Gustavson type mental retardation with optic atrophy, deafness, and seizures severe X-linked intellectual disability, Gustavson type MONDO:0010662 A syndrome characterized by intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis. It has been reported in four brothers. The mother of the affected boys had normal intelligence, plantar hyperkeratosis and a strong facial resemblance to her retarded sons. Her three daughters were normal. This syndrome most likely an X-linked recessive condition. Fitzsimmons-McLachlan-Gilbert syndrome intellectual disability with spastic paraplegia and palmoplantar hyperkeratosis mental retardation with spastic paraplegia and palmoplantar hyperkeratosis paraplegia-intellectual disability-hyperkeratosis syndrome MONDO:0010663 A group of X-linked syndromes characterized by severe intellectual deficit and facial dysmorphism, with variable other features. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5061 Carpenter-Waziri syndrome Chudley Lowry Hoar syndrome Chudley-Lowry syndrome Chudley-Lowry-Hoar syndrome Holmes-Gang syndrome MRXHF1 SFMS Smith-Fineman-Myers syndrome X-linked intellectual disability-hypotonic face syndrome XLMR-hypotonic facies syndrome intellectual disability-hypotonic facies syndrome, X-linked, 1 intellectual disability-hypotonic facies syndrome, X-linked, type 1 mental retardation-hypotonic facies syndrome, X-linked, X-linked recessive mental retardation-hypotonic facies syndrome, X-linked, type 1 Juberg Marsidi syndrome Juberg-Marsidi mental retardation syndrome Juberg-Marsidi syndrome Chudley intellectual disability syndrome Chudley mental retardation syndrome Chudley syndrome 1 JMS SFM1 Smith Fineman Myers syndrome 1 X-linked hypogonadism gynecomastia intellectual disability X-linked hypogonadism gynecomastia mental retardation intellectual disability Smith Fineman Myers type intellectual disability, X-linked, with growth retardation, deafness, and microgenitalism intellectual disability-hypotonic facies syndrome X-linked, 1 mental retardation Smith Fineman Myers type mental retardation, X-linked, with growth retardation, deafness, and microgenitalism mental retardation-hypotonic facies syndrome X-linked, 1 mental retardation-hypotonic facies syndrome, X-linked, 1 mental retradation, X-linked with Growth delay, deafness, microgenitalism intellectual disability-hypotonic facies syndrome, X-linked, 1 MONDO:0010664 Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4985 https://github.com/monarch-initiative/mondo/issues/5588 SRS Snyder-Robinson intellectual disability syndrome Snyder-Robinson mental retardation syndrome Snyder-Robinson syndrome intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, X-linked recessive intellectual disability, X-linked, Snyder-Robinson type mental retardation, X-linked, Snyder-Robinson type spermine synthase deficiency syndromic X-linked intellectual disability Snyder type MRXSSR X-linked intellectual disability Snyder-Robinson type X-linked intellectual disability, Snyder type X-linked mental retardation Snyder-Robinson type intellectual disability, X-linked, syndromic, Snyder-Robinson type mental retardation, X-linked, syndromic, Snyder-Robinson type syndromic X-linked intellectual disability Snyder type MONDO:0010665 A very rare genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 MRXS6 WTS Wilson-Turner syndrome, X-linked recessive X-linked intellectual disability-gynecomastia-obesity syndrome intellectual disability, X-linked, syndromic 6 intellectual disability, X-linked, with gynecomastia and obesity mental retardation, X-linked, syndromic 6 mental retardation, X-linked, with gynecomastia and obesity Wilson Turner intellectual disability syndrome (formerly) Wilson Turner mental retardation syndrome (formerly) Wilson-TURNER X-linked intellectual disability syndrome Wilson-TURNER X-linked mental retardation syndrome X-linked intellectual disability - gynecomastia - obesity intellectual disability, X-linked, syndromic 6 (formerly) intellectual disability, X-linked, with gynecomastia and obesity (formerly) mental retardation, X-linked, syndromic 6 (formerly) mental retardation, X-linked, with gynecomastia and obesity (formerly) Wilson-Turner syndrome https://rarediseases.info.nih.gov/diseases/5579/wilson-turner-syndrome MONDO:0010667 This syndrome is characterised by intellectual deficit associated with facial dysmorphism, patella luxation, and abnormal growth of the teeth. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 Prieto syndrome, X-linked recessive Prieto-Badia-Mulas syndrome X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome MRXS2 PRS Prieto X-linked intellectual disability syndrome Prieto X-linked mental retardation syndrome intellectual disability, X-linked, syndromic 2 intellectual disability, X-linked, with Dysmorphism and cerebral atrophy mental retardation, X-linked, syndromic 2 mental retardation, X-linked, with Dysmorphism and cerebral atrophy Prieto syndrome MONDO:0010668 Skeletal dysplasia-intellectual disability syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 Christian syndrome mental retardation-skeletal dysplasia MRSD X-linked skeletal dysplasia-intellectual disability syndrome intellectual disability skeletal dysplasia abducens palsy intellectual disability, skeletal dysplasia, and abducens palsy mental retardation skeletal dysplasia abducens palsy mental retardation, skeletal dysplasia, and abducens palsy skeletal dysplasia-intellectual disability syndrome https://rarediseases.info.nih.gov/diseases/3520/mental-retardation-skeletal-dysplasia-abducens-palsy MONDO:0010669 Syndactyly type 8 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral or bilateral fusion of the fourth and fifth metacarpals with no other associated abnomalities. Patients present shortened fourth and fifth metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the fifth finger in parallel with the other fingers. https://github.com/monarch-initiative/mondo/issues/4521 FGF16 non-syndromic syndactyly fusion of metacarpals 4 and 5 metacarpal 4-5 fusion, X-linked recessive non-syndromic syndactyly caused by mutation in FGF16 MF4 metacarpal 4-5 fusion metacarpals 4 and 5 fusion syndactyly type 8 https://rarediseases.info.nih.gov/diseases/3559/metacarpals-4-and-5-fusion MONDO:0010670 https://github.com/monarch-initiative/mondo/issues/5588 intellectual disability with spastic paraplegia mental retardation with spastic paraplegia X-linked intellectual disability-spastic quadriparesis syndrome MONDO:0010671 https://github.com/monarch-initiative/mondo/issues/3803 ANOP1, formerly Lenz dysplasia Lenz microphthalmia syndrome MAA, formerly MCOPS1 MCOPS4 MCOPS4, formerly microphthalmia syndromic 4 microphthalmia with ankyloblepharon and intellectual disability microphthalmia with ankyloblepharon and mental retardation microphthalmia, syndromic 1 microphthalmia, syndromic 4, formerly microphthalmia, syndromic type 1 syndromic microphthalmia type 4 microphthalmia, syndromic 1 https://rarediseases.info.nih.gov/diseases/5066/microphthalmia-syndromic-4 MONDO:0010672 A genetic condition that affects the eyes and skin. It is mainly found in females and is characterized by small or poorly developed eyes (microphthalmia) and characteristic linear skin markings on the head and neck. The signs and symptoms of this condition may include abnormalities of the brain, heart, and genitourinary system. Other symptoms may include short stature, developmental delay, and finger and toenails that do not grow normally (nail dystrophy). MLS syndrome is typically caused by either a deletion of certain genetic material on the p (short) arm of the X chromosome or by a mutation in the HCCS gene. In some cases, it may be caused by mutations in the COX7B and NDUFB11 genes, (also located on the X chromosome). According to the mutated gene, the disease may be classified in three subtypes. This condition is inherited in an X-linked manner and is thought to result in serious early developmental concerns in males, leading to almost no males with this condition surviving to delivery.Although there is no specific treatment or cure for MLS syndrome, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person's symptoms. https://github.com/monarch-initiative/mondo/issues/5588 MCOPS7 MIDAS syndrome MLS syndrome linear skin defects with multiple congenital anomalies linear skin defects with multiple congenital anomalies type 1 microphthalmia with linear skin defects syndrome microphthalmia-dermal aplasia-sclerocornea syndrome syndromic microphthalmia type 7 LSDMCA1 Micropthalmia syndromic 7 linear skin defects with multiple congenital anomalies 1 microphthalmia dermal aplasia and sclerocornea syndrome Editor notes: Renamed from MICROPHTHALMIA, SYNDROMIC 7; MCOPS7 by OMIM on 5/15/15. Placed in both PS309801 and PS309800 by OMIM. linear skin defects with multiple congenital anomalies https://rarediseases.info.nih.gov/diseases/3659/microphthalmia-with-linear-skin-defects-syndrome MONDO:0010673 modifier, X-linked, for Neurofunctional defects Tourette syndrome, modifier of modifier, X-linked, for Neurofunctional defects MONDO:0010674 A lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement. https://github.com/monarch-initiative/mondo/issues/3787 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 Hunter syndrome Hunter's syndrome I2S deficiency IDS deficiency MPS 2 MPS II MPS II - Hunter syndrome MPS with skin involvement MPS2 MPSII SIDS deficiency attenuated MPS (subtype; formerly known as mild MPS II) deficiency of iduronate-2-sulphatase iduronate 2-sulfatase deficiency mucopolysaccharidosis II mucopolysaccharidosis II, X-linked recessive mucopolysaccharidosis type 2 mucopolysaccharidosis type II mucopolysaccharidosis with skin involvement mucopolysaccharidosis, MPS-II mucopolysaccharidosis, type 2 mucopolysaccharidosis, type II severe MPS II sulfoiduronate sulfatase deficiency mucopolysaccharidosis type 2 MONDO:0010675 muscular dystrophy, cardiac type muscular dystrophy, cardiac type MONDO:0010676 muscular dystrophy, Hemizygous lethal type muscular dystrophy, Hemizygous lethal type MONDO:0010677 muscular dystrophy, Mabry type muscular dystrophy, Mabry type MONDO:0010678 muscular dystrophy, progressive Pectorodorsal muscular dystrophy, progressive, involving shoulder girdle and back muscular dystrophy, progressive Pectorodorsal MONDO:0010679 Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle. https://github.com/monarch-initiative/mondo/issues/4521 DMD Duchenne muscular dystrophy Duchenne muscular dystrophy, X-linked recessive muscular dystrophy, Duchenne severe dystrophinopathy, Duchenne type muscular dystrophy, Duchenne type muscular dystrophy, pseudohypertrophic progressive, Duchenne type Duchenne muscular dystrophy https://rarediseases.info.nih.gov/diseases/6291/duchenne-muscular-dystrophy MONDO:0010680 X-linked form of Emery-Dreifuss muscular dystrophy. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5537 EDMD1 EMD1 Emerinopathy Emery-Dreifuss muscular dystrophy 1, X-linked Emery-Dreifuss muscular dystrophy, X-linked X-linked Emery-Dreifuss muscular dystrophy humeroperoneal neuromuscular disease muscular dystrophy, tardive, Dreifuss-Emery type, with contractures scapuloperoneal syndrome, X-linked EMERY-Dreifuss muscular dystrophy 1, X-linked Ehlers-Danlos syndrome, classic-like, 1 Humeroperoneal neuromuscular disease Humeroperoneal neuromuscular disease, formerly muscular dystrophy, tardive Emery-Dreifuss type, with contractures scapuloperoneal syndrome, X-linked, formerly X-linked Emery-Dreifuss muscular dystrophy MONDO:0010681 Myelolymphatic insufficiency Pelger-like anomaly with leukopenia and susceptibility to infections myelolymphatic insufficiency MONDO:0010682 https://github.com/monarch-initiative/mondo/issues/1928 2022-07-01 myoclonic epilepsy, progressive Reason: out of scope, MONDO:excludeHistoricalDisease. Obsoleted in Orphanet. Term to consider: MONDO:0016022 early myoclonic encephalopathy' myoclonic epilepsy, progressive, X-linked MONDO:0010683 An inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. https://github.com/monarch-initiative/mondo/issues/4521 MTM X-linked centronuclear myopathy X-linked myotubular myopathy XLCNM XLMTM centronuclear myopathy, X-linked myotubular myopathy, X-linked, X-linked recessive CNMX myopathy, centronuclear, X-linked myotubular myopathy 1 myotubular myopathy, X-linked X-linked centronuclear myopathy MONDO:0010684 X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings. https://github.com/monarch-initiative/mondo/issues/4521 XMEA myopathy, X-linked, with excessive autophagy, X-linked recessive vacuolar myopathy MEAX myopathy, X-linked, with excessive autophagy X-linked myopathy with excessive autophagy https://rarediseases.info.nih.gov/diseases/3892/x-linked-myopathy-with-excessive-autophagy MONDO:0010685 https://github.com/monarch-initiative/mondo/issues/4521 MYP1 myopia 1, X-linked myopia-1, X-linked recessive myopia 1, X-linked MONDO:0010686 N syndrome is characterised by intellectual deficit, deafness, ocular anomalies, T-cell leukaemia, cryptorchidism, hypospadias and spasticity. N syndrome NSX intellectual disability, malformations, chromosome breakage, and development of T-cell leukemia mental retardation, malformations, chromosome breakage, and development of T-cell leukemia N syndrome https://rarediseases.info.nih.gov/diseases/3902/n-syndrome MONDO:0010687 https://github.com/monarch-initiative/mondo/issues/4521 nephrolithiasis, X-linked recessive, with renal failure nephrolithiasis, type i, X-linked recessive XRN nephrolithiasis 1 nephrolithiasis, X-linked recessive, type 1 urolithiasis, X-linked recessive, type 1 Editor note: ORDO inclides a btnt xref to this from Dent disease type 1, presumably due to the fact nephrolithiasis is sometimes a feature of dent disease. We capture this separately in annotations nephrolithiasis, X-linked recessive, with renal failure MONDO:0010688 A hereditary sensory neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life. neuropathy, hereditary sensory, X-linked hereditary sensory neuropathy X-linked MONDO:0010689 X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype. https://github.com/monarch-initiative/mondo/issues/4521 CMT4X CMTX 4 CMTX4 COWCK Charcot-Marie-Tooth disease X-linked recessive type 4 Charcot-Marie-Tooth disease with deafness and intellectual disability Charcot-Marie-Tooth disease with deafness and mental retardation Charcot-Marie-Tooth disease, X-linked recessive, 4 Cowchock syndrome, X-linked recessive NADMR NAMSD X-linked Charcot-Marie-Tooth disease type 4 axonal motor sensory neuropathy with deafness and intellectual disability axonal motor sensory neuropathy with deafness and mental retardation cowchock syndrome neuropathy, axonal motor-sensory with deafness and intellectual disability neuropathy, axonal motor-sensory with deafness and mental retardation neuropathy, axonal motor-sensory, with deafness and intellectual disability neuropathy, axonal motor-sensory, with deafness and mental retardation Charcot-Marie-Tooth disease X-linked recessive 4 MONDO:0010690 A congenital stationary night blindness caused by variants in the X-linked NYX gene. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4937 https://github.com/monarch-initiative/mondo/issues/5693 CSNB1A NBMI NYX congenital stationary night blindness NYX-related congenital stationary night blindness complete CSNB X-linked congenital stationary night blindness 1A congenital stationary night blindness 1A X-linked congenital stationary night blindness caused by mutation in NYX congenital stationary night blindness type 1A congenital stationary night blindness with myopia hemeralopia-myopia myopia-night blindness night blindness, congenital stationary (complete), 1A, X-linked, X-linked recessive night blindness, congenital stationary, type 1A CSNB, complete, X-linked night blindness, congenital stationary, with myopia nyctalopia congenital stationary night blindness 1A MONDO:0010691 A rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 Episkopi blindness Norrie disease Norrie disease, X-linked recessive Norrie-Warburg disease atrophia bulborum hereditaria Anderson-Warburg syndrome ND NDP Norrie syndrome Norrie-Warburg syndrome fetal iritis syndrome nd pseudoglioma Norrie disease https://rarediseases.info.nih.gov/diseases/7224/norrie-disease MONDO:0010692 nuclear ribonucleic acid nRNA nuclear ribonucleic acid MONDO:0010693 Any congenital nystagmus in which the cause of the disease is a mutation in the FRMD7 gene. FRMD7 congenital nystagmus congenital nystagmus caused by mutation in FRMD7 nystagmus 1, congenital, X-linked NYS1 NYSTAGMUS 1, congenital, X-linked Nystagmus 1, congenital, X- linked Nystagmus 1, infantile, X-linked Nystagmus, congenital motor, 1 Nystagmus, infantile idiopathic Nystagmus, infantile idiopathic, formerly Nystagmus, infantile periodic alternating, X-linked Xlpan nystagmus 1, congenital, X-linked https://rarediseases.info.nih.gov/diseases/2969/nystagmus-1-congenital-x--linked MONDO:0010694 nystagmus, myoclonic myoclonic nystagmus nystagmus, myoclonic https://rarediseases.info.nih.gov/diseases/9605/nystagmus-myoclonic MONDO:0010695 occipital hair, white lock of occipital hair, white lock of MONDO:0010696 omphalocele, X-linked omphalocele, X-linked MONDO:0010697 OPEM ophthalmoplegia, external, and myopia myopia-ophthalmoplegia syndrome ophthalmoplegia, external, and myopia MONDO:0010698 A rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected. https://github.com/monarch-initiative/mondo/issues/4521 OPA2 non-Leber type optic atrophy with early-onset optic atrophy 2 optic atrophy 2, X-linked optic atrophy type 2 optic atrophy, X-linked optic atrophy, non-Leber type, with early onset optic atrophy 2 MONDO:0010699 X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype. https://github.com/monarch-initiative/mondo/issues/4521 CMT5X CMTX5 Charcot-Marie-Tooth disease X-linked recessive type 5 Charcot-Marie-Tooth disease, X-linked recessive, 5 Charcot-Marie-Tooth disease, X-linked recessive, 5, X-linked recessive Charcot-Marie-Tooth disease, X-linked recessive, type 5 Charcot-Marie-Tooth neuropathy X type 5 Charcot-Marie-Tooth neuropathy X-linked recessive 5 Charcot-Marie-Tooth neuropathy, X-linked recessive, 5 Rosenberg-Chutorian syndrome X-linked Charcot-Marie-Tooth disease type 5 familial opticoacoustic nerve degeneration and polyneuropathy optic atrophy, polyneuropathy, and deafness optic atrophy, sensorineural hearing loss and polyneuropathy Charcot-Marie-Tooth disease X-linked recessive 5 MONDO:0010700 optic atrophy--spastic paraplegia syndrome optic atrophy--spastic paraplegia syndrome MONDO:0010702 A rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females. https://github.com/monarch-initiative/mondo/issues/3680 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 OFD syndrome 1 OFD1 OFDI OFDS 1 OFDSI Papillon-Leage and Psaume syndrome Papillon-Leage-Psaume syndrome Papillon-Léage-Psaume syndrome Papillon-league-Psaume syndrome (formerly) oral facial digital syndrome 1 oral facial digital syndrome type 1 oral-facial-digital syndrome 1 oral-facial-digital syndrome type 1 oral-facial-digital syndrome, type 1 orofaciodigital syndrome 1 orofaciodigital syndrome I orofaciodigital syndrome i, X-linked dominant orofaciodigital syndrome type 1 orofaciodigital syndrome type I orofaciodigital syndrome I MONDO:0010703 Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found almost exclusively in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological complications. https://github.com/monarch-initiative/mondo/issues/4985 OCT deficiency OTC deficiency OTCD deficiency of citrulline phosphorylase ornithine carbamoyltransferase deficiency ornithine carbamoyltransferase deficiency disease ornithine transcarbamylase deficiency ornithine transcarbamylase deficiency, hyperammonemia due to valproate sensitivity ornithine carbamoyltransferase deficiency MONDO:0010704 The mildest form of otopalatodigital syndrome spectrum disorder that is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 OPD 1 syndrome OPD I syndrome OPD syndrome 1 OPD1 Taybi syndrome oto-palato-digital syndrome type 1 otopalatodigital syndrome, type 1 otopalatodigital syndrome, type I otopalatodigital syndrome, type I, X-linked dominant OPD syndrome frontootopalatodigital osteodysplasia otopalatodigital spectrum disorder otopalatodigital syndrome type 1 MONDO:0010706 Any primary ovarian failure in which the cause of the disease is a mutation in the FMR1 gene. https://github.com/monarch-initiative/mondo/issues/4883 ovarian failure, premature FMR1 primary ovarian failure premature ovarian failure 1 premature ovarian failure type 1 primary ovarian failure caused by mutation in FMR1 FMR1-related premature ovarian failure FMR1-related primary ovarian insufficiency Pof1 familial premature ovarian failure fragile X-associated primary ovarian insufficiency hypergonadotropic ovarian failure, X-linked idiopathic familial premature ovarian failure premature ovarian failure, X-linked premature ovarian failure 1 MONDO:0010707 Paine syndrome Seemanova syndrome 1 microcephaly with spastic diplegia Paine syndrome https://rarediseases.info.nih.gov/diseases/9780/paine-syndrome MONDO:0010708 A syndrome characterised by intellectual deficit, epileptic seizures and facial dysmorphism. Skeletal anomalies are also often present. To date, it has been described in six male patients. The mode of transmission appears to be X-linked dominant. Pallister-W syndrome W syndrome Pallister W syndrome median cleft upper lip, intellectual disability and pugilistic facies median cleft upper lip, mental retardation and pugilistic facies Pallister-W syndrome MONDO:0010709 A basal ganglia disorder characterised by Parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 Laxova-Opitz syndrome Waisman syndrome Waisman syndrome, X-linked recessive early-onset parkinsonism-intellectual disability syndrome BGMR Laxova Brown hogan syndrome Parkinsonism, early onset with intellectual disability Parkinsonism, early onset with mental retardation Parkinsonism, early-onset, with intellectual disability Parkinsonism, early-onset, with mental retardation WAISMAN syndrome WSMN Wsn X-linked recessive basal ganglia disorder with intellectual disability X-linked recessive basal ganglia disorder with mental retardation basal ganglia disorder with intellectual disability basal ganglia disorder with mental retardation basal ganglion disorder with intellectual disability basal ganglion disorder with mental retardation early-onset parkinsonism-intellectual disability syndrome MONDO:0010710 This syndrome is characterised by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints).Growth and mental development were normal. Chitayat-Meunier-Hodgkinson syndrome Pierre Robin sequence-faciodigital anomaly syndrome Chitayat Meunier Hodgkinson syndrome Pierre Robin sequence with facial and digital anomalies Pierre Robin syndrome, faciodigital anomaly Robin sequence with facial and digital anomalies Pierre Robin syndrome-faciodigital anomaly syndrome https://rarediseases.info.nih.gov/diseases/1274/chitayat-meunier-hodgkinson-syndrome MONDO:0010711 A rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months. https://github.com/monarch-initiative/mondo/issues/4521 Pierre Robin sequence-congenital heart defect-talipes syndrome Pierre Robin syndrome-congenital heart defect-talipes syndrome TARP syndrome, X-linked recessive talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome tarp syndrome Pierre Robin sequence - congenital heart defect - talipes Pierre Robin syndrome - congenital heart defect - talipes Pierre Robin syndrome with congenital heart malformation and clubfoot TARPS talipes equinovarus - atrial septal defect - Robin sequence - persistence of the left superior vena cava talipes equinovarus, atrial septal defect, Robin sequence, and persistence of left Superior vena cava TARP syndrome https://rarediseases.info.nih.gov/diseases/10089/tarp-syndrome MONDO:0010712 panhypopituitarism, X-linked PHPX panhypopituitarism X-linked pituitary dwarfism IV pituitary dwarfism IV (formerly) pituitary dwarfism IV, formerly panhypopituitarism, X-linked https://rarediseases.info.nih.gov/diseases/6737/panhypopituitarism-x-linked MONDO:0010713 A rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease. https://github.com/monarch-initiative/mondo/issues/4521 properdin deficiency, X-linked properdin deficiency, X-linked, X-linked recessive CFPD PFD complement Factor properdin deficiency properdin P Factor deficiency properdin deficiency, type 1 properdin deficiency, type 2 properdin deficiency, type 3 properdin deficiency, X-linked MONDO:0010714 An X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 HLD1 PMD Pelizaeus Merzbacher brain sclerosis Pelizaeus-Merzbacher brain sclerosis Pelizaeus-Merzbacher disease Pelizaeus-Merzbacher disease, X-linked recessive Sudanophilic leukodystrophy, Paelizeus-Merzbacher type diffuse familial brain sclerosis hypomyelinating leukodystrophy 1 leukodystrophy, sudanophilic sudanophilic leukodystrophy, Paelizeus-Merzbacher type Pelizaeus Merzbacher disease leukodystrophy, hypomyelinating, 1 Pelizaeus-Merzbacher disease https://rarediseases.info.nih.gov/diseases/4265/pelizaeus-merzbacher-disease MONDO:0010716 X-linked form of lethal multiple pterygium syndrome. lethal multiple pterygium syndrome, X-linked multiple pterygium syndrome X-linked multiple pterygium syndrome, X-linked pterygium syndrome multiple X-linked pterygium syndrome, multiple, X-linked X-linked lethal multiple pterygium syndrome https://rarediseases.info.nih.gov/diseases/4573/multiple-pterygium-syndrome-x-linked MONDO:0010717 Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction. https://github.com/monarch-initiative/mondo/issues/4521 pyruvate decarboxylase deficiency PDHAD pyruvate dehydrogenase E1-alpha deficiency pyruvate dehydrogenase complex E1 component subunit alpha deficiency pyruvate dehydrogenase e1-alpha deficiency, X-linked dominant PDH deficiency ataxia with lactic acidosis 1 ataxia, intermittent, with abnormal pyruvate metabolism ataxia, intermittent, with pyruvate dehydrogenase deficiency ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency lactic acidemia, thiamine-responsive pyruvate dehydrogenase Complex deficiency pyruvate dehydrogenase E1-ALPHA deficiency pyruvate dehydrogenase E1-alpha deficiency MONDO:0010718 Absent radius-anogenital anomalies syndrome is a rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993. radial aplasia and anogenital anomalies radial aplasia, X-linked radius absent anogenital anomalies absent radius-anogenital anomalies syndrome MONDO:0010719 radiation sensitivity of natural killer activity X-Ray Nk sensitivity radiation sensitivity of natural killer activity MONDO:0010720 Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. https://github.com/monarch-initiative/mondo/issues/4521 PAIS Reifenstein syndrome Reifenstein syndrome, partial androgen insensitivity, partial androgen insensitivity, partial, with or without breast cancer androgen insensitivity, partial, with or without breast cancer, X-linked recessive familial incomplete Male pseudohermaphroditism, type 1 pais partial androgen resistance syndrome pseudohermaphroditism, incomplete male, type I androgen insensitivity syndrome, partial androgen resistance syndrome, partial incomplete male pseudohermaphroditism type I familial incomplete male pseudohermaphroditism partial androgen insensitivity syndrome https://rarediseases.info.nih.gov/diseases/5692/partial-androgen-insensitivity-syndrome MONDO:0010721 reticuloendotheliosis, X-linked reticuloendotheliosis reticuloendotheliosis, X-linked MONDO:0010722 PRD retinal dysplasia X-linked retinal dysplasia, primary X-linked retinal dysplasia https://rarediseases.info.nih.gov/diseases/4680/retinal-dysplasia-x-linked MONDO:0010723 Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP2 gene. RP2 RP2 retinitis pigmentosa retinitis pigmentosa 2 retinitis pigmentosa caused by mutation in RP2 retinitis pigmentosa type 2 retinitis pigmentosa 2 MONDO:0010725 A genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration. https://github.com/monarch-initiative/mondo/issues/4521 X-linked juvenile retinoschisis X-linked juvenile retinoschisis type 1 X-linked retinoschisis XLRS juvenile X-linked retinoschisis retinoschisis, X-linked retinoschisis, X-linked recessive RS RS1 X-linked juvenile retinoschisis 1 XJR XLRS1 juvenile retinoschisis retinoschisis 1, X-linked, juvenile retinoschisis X-linked retinoschisis juvenile X chromosome-linked X-linked retinoschisis MONDO:0010726 A severe neurodevelopmental disorder affecting the central nervous system. https://github.com/monarch-initiative/mondo/issues/3680 https://github.com/monarch-initiative/mondo/issues/4521 Rett syndrome Rett's disorder cerebroatrophic hyperammonemia rett syndrome, X-linked dominant rett syndrome, atypical, X-linked dominant rett syndrome, preserved speech variant, X-linked dominant RTT Rett syndrome, Zappella variant Rett syndrome, atypical Rett syndrome, preserved speech variant Rts autism, dementia, ataxia, and loss of purposeful hand use Rett syndrome MONDO:0010727 Russell-silver syndrome, X-linked Partington syndrome Russell-Silver-like syndrome with skin pigmentation Russell-silver syndrome, X-linked MONDO:0010728 A syndrome characterised by the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive. SCARF syndrome skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation, and Facial abnormalities SCARF syndrome MONDO:0010729 X-linked mental retardation, Schimke type, is characterised by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked. https://github.com/monarch-initiative/mondo/issues/5588 Schimke X-linked intellectual disability syndrome Schimke X-linked mental retardation syndrome childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and intellectual disability, ophthalmoplegia, and deafness childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and mental retardation, ophthalmoplegia, and deafness choreoathetosis with intellectual disability X- linked choreoathetosis with intellectual disability, X-linked choreoathetosis with mental retardation X- linked choreoathetosis with mental retardation, X-linked progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness X-linked intellectual disability, Schimke type MONDO:0010730 https://github.com/monarch-initiative/mondo/issues/4521 combined immunodeficiency, X-linked combined immunodeficiency, X-linked, moderate, X-linked recessive CIDX Xcid immunodeficiency 6 combined immunodeficiency, X-linked MONDO:0010731 Simpson-Golabi-Behmel syndrome is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk. DGSX Golabi-Rosen syndrome SDYS SGB syndrome SGBS Sara Angers syndrome Simpson-Golabi-Behmel syndrome X-linked dysplasia gigantism syndrome Sgbs dysplasia gigantism syndrome, X-linked Simpson-Golabi-Behmel syndrome https://rarediseases.info.nih.gov/diseases/7649/simpson-golabi-behmel-syndrome MONDO:0010732 Spastic paraparesis-deafness syndrome is a chronic neurodegenerative disorder characterised by spastic paraparesis (beginning at about 10 years of age) and hearing deficits. Wells-Jankovic syndrome familial spastic paraparesis and deafness spastic paraparesis - deafness spastic paraparesis and deafness spastic paraparesis-deafness syndrome MONDO:0010733 Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG. https://github.com/monarch-initiative/mondo/issues/4521 PLP1 hereditary spastic paraplegia SPG2 X-linked spastic paraplegia 2 X-linked spastic paraplegia type 2 hereditary spastic paraplegia caused by mutation in PLP1 hereditary spastic paraplegia type 2 spastic gait type 2 spastic paraparesis type 2 spastic paraplegia 2, X-linked, X-linked recessive spastic paraplegia type 2 Sppx2 spastic paraplegia 2 spastic paraplegia 2, X-linked hereditary spastic paraplegia 2 MONDO:0010734 https://github.com/monarch-initiative/mondo/issues/4521 Turner syndrome-associated neurocognitive phenotype, X-linked recessive spatial visualization, aptitude for visuospatial/perceptual abilities, X-linked recessive Turner syndrome-associated Neurocognitive phenotype visuospatial/perceptual abilities spatial visualization, aptitude for MONDO:0010735 Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting. https://github.com/monarch-initiative/mondo/issues/4521 Kennedy disease Kennedy's disease SBMA SMAX1 X-linked BSMA X-linked bulbo-spinal atrophy X-linked bulbospinal amyotrophy X-linked bulbospinal muscular atrophy X-linked spinal and bulbar muscular atrophy spinal and bulbar muscular atrophy of Kennedy, X-linked recessive spinal and bulbar muscular atrophy, X-linked type 1 spinal bulbar muscular atrophy spinobulbar muscular atrophy Kennedy spinal and bulbar muscular atrophy bulbospinal muscular atrophy, X-linked bulbospinal neuronopathy, X-linked recessive spinal and bulbar muscular atrophy spinal and bulbar muscular atrophy, X-linked 1 Kennedy disease MONDO:0010736 A split-hand/foot malformation that has material basis in variation in the chromosome region Xq26. https://github.com/monarch-initiative/mondo/issues/4521 SHFM2 split hand-foot malformation type 2 split hand/foot malformation 2 SHFD2 SHSF2 split hand foot anomaly - X-linked split hand foot deformity 2 split hand/foot malformation X-linked split-hand/foot deformity 2 split-hand/foot malformation 2 split-hand/split-foot anomaly, X-linked split hand-foot malformation 2 MONDO:0010737 X-linked spondyloepiphyseal dysplasia tarda is an inherited skeletal disorder that affects males only. Physical characteristics include moderate short-stature (dwarfism); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck;disproportionatelylong arms,and premature osteoarthritis, especially in the hip joints. Final male adult height ranges from 4 feet 10 inches to 5 feet 6 inches. Other skeletal features of this condition include decreased mobility of the elbow and hip joints, arthritis, and abnormalities of the hip joint which causes the upper leg bones to turn inward. This condition is caused by mutations in the TRAPPC2 gene and is inherited in an X-linked recessive pattern. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 spondyloepiphyseal dysplasia tarda, X-linked spondyloepiphyseal dysplasia tarda, X-linked recessive SED SEDT Sed tarda, X-linked X linked spondyloepiphyseal dysplasia tarda X-linked spondyloepiphyseal dysplasia spondyloepiphyseal dysplasia tarda X-linked spondyloepiphyseal dysplasia, late spondyloepiphyseal dysplasia tarda, X-linked https://rarediseases.info.nih.gov/diseases/4985/spondyloepiphyseal-dysplasia-tarda-x-linked MONDO:0010738 Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base. X-linked spondylometaphyseal dysplasia spondylometaphyseal dysplasia Richmond type spondylometaphyseal dysplasia X-linked spondylometaphyseal dysplasia, Richmond type spondylometaphyseal dysplasia, X-linked spondylometaphyseal dysplasia, Golden type MONDO:0010739 Taqi polymorphism TAQ1 TaqI polymorphism Taqi polymorphism MONDO:0010740 taurodontism, microdontia, and dens invaginatus taurodontism, microdontia, and dens invaginatus https://rarediseases.info.nih.gov/diseases/10068/taurodontism-microdontia-and-dens-invaginatus MONDO:0010741 Any tooth agenesis in which the cause of the disease is a mutation in the EDA gene. https://github.com/monarch-initiative/mondo/issues/4521 EDA tooth agenesis tooth agenesis caused by mutation in EDA tooth agenesis, selective, X-linked 1, X-linked dominant tooth agenesis, selective, X-linked, 1 tooth agenesis, selective, X-linked, type 1 STHAGX1 hypodontia/oligodontia, X-linked, 1 tooth agenesis, selective, X-linked, 1 MONDO:0010742 Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC. Cantrell deformity Cantrell syndrome pentalogy of Cantrell thoraco-abdominal syndrome Cantrell Haller Ravitsch syndrome Cantrell pentalogy Midline defects, X-linked THAS Tas thoracoabdominal syndrome pentalogy of Cantrell https://rarediseases.info.nih.gov/diseases/7359/pentalogy-of-cantrell MONDO:0010743 https://github.com/monarch-initiative/mondo/issues/4521 X-linked thrombocytopenia with normal platelets thrombocytopenia 1 thrombocytopenia type 1 thrombocytopenia, X-linked, X-linked recessive thrombocytopenia, X-linked, intermittent, X-linked recessive THC THC1 X-linked thrombocytopenia XLT thrombocytopenia, X-linked thrombocytopenia, X-linked, 1 thrombocytopenia, X-linked, intermittent thrombocytopenia 1 MONDO:0010744 thrombocytopenia with elevated serum IgA and renal disease thrombocytopenia with elevated serum IgA and renal disease MONDO:0010745 Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia. https://github.com/monarch-initiative/mondo/issues/4521 X-linked thrombocytopenia with Beta-thalassemia XLTT thrombocytopenia with beta-thalassemia, X-linked, X-linked recessive thrombocytopenia with BETA-thalassemia, X-linked thrombocytopenia, Platelet dysfunction, hemolysis, and Imbalanced globin synthesis beta-thalassemia-X-linked thrombocytopenia syndrome MONDO:0010746 https://github.com/monarch-initiative/mondo/issues/4069 thumbs, congenital Clasped Clasped thumbs, congenital adducted thumbs syndrome thumbs, congenital Clasped MONDO:0010747 X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course. https://github.com/monarch-initiative/mondo/issues/4521 DYT-TAF1 DYT3 Lubag Lubag syndrome X-linked dystonia Parkinsonism XDP dystonia-Parkinsonism, X-linked, X-linked recessive X-linked dystonia-Parkinsonism syndrome X-linked dystonia-parkinsonism/Lubag X-linked torsion dystonia-Parkinsonism syndrome dystonia 3, torsion, X-linked dystonia-Parkinsonism, X-linked torsion dystonia-Parkinsonism, Filipino type X-linked dystonia-parkinsonism MONDO:0010748 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies. https://github.com/monarch-initiative/mondo/issues/4521 Goeminne TKCR syndrome Goeminne syndrome TKCR Tkc Tkcr syndrome torticollis keloids cryptorchidism renal dysplasia torticollis, keloids, cryptorchidism, and renal dysplasia torticollis-keloids-cryptorchidism-renal dysplasia syndrome MONDO:0010749 A syndrome characterised by short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance can not be ruled out. Say-Meyer syndrome Say Meyer syndrome trigonocephaly with short stature and developmental delay trigonocephaly, short stature and developmental delay trigonocephaly, short stature, and retarded psychomotor development trigonocephaly-short stature-developmental delay syndrome MONDO:0010750 Ulnar hypoplasia-split foot syndrome is characterised by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded. Van den Berghe-Dequecker syndrome ulnar hypoplasia-lobster-claw deformity of feet syndrome Van De Berghe Dequeker syndrome complete absence of the ulna and of fingers 2 to 5, together with lobster-claw deformity of the feet familial ulnar aplasia and lobster claw syndrome severe ulnar aplasia and lobster claw feet ulnar hypoplasia lobster claw deformity of feet ulnar hypoplasia with lobster-claw deformity of feet ulnar hypoplasia-split foot syndrome MONDO:0010751 unique green phenomenon unique green phenomenon MONDO:0010752 https://github.com/monarch-initiative/mondo/issues/4521 VACTERL association, X-linked, X-linked recessive VACTERL association, X-linked, with or without hydrocephalus VACTERL association with hydrocephaly, X-linked VACTERL-H, X-linked VACTERLX X-linked VACTERL-H syndrome VACTERL association, X-linked, with or without hydrocephalus MONDO:0010753 CVD1 XMVD cardiac valvular dysplasia, X-linked congenital valvular dysplasia myxomatous valvular dystrophy, X-linked valvular heart disease, congenital cardiac valvular dysplasia, X-linked https://rarediseases.info.nih.gov/diseases/1096/cardiac-valvular-dysplasia-x-linked MONDO:0010754 A syndrome characterized by intellectual deficit, choroideremia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities. It has been observed in a single kindred. The syndrome is transmitted as an X-linked recessive trait and may be caused by a small X-chromosome deletion. van den Bosch syndrome mental deficiency, choroideremia, acrokeratosis verruciformis,anhidrosis, skeletal deformity van den Bosch syndrome https://rarediseases.info.nih.gov/diseases/5453/van-den-bosch-syndrome MONDO:0010755 vesicoureteral reflux, X-linked VURX vesicoureteral reflux, X-linked MONDO:0010756 Von Willebrand disease, X-linked form Von Willebrand disease, X-linked Von Willebrand disease, X-linked form MONDO:0010757 widow's peak syndrome widow's peak, ptosis, and skeletal anomalies widow's peak syndrome MONDO:0010758 A severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis) and intellectual disability. https://github.com/monarch-initiative/mondo/issues/3680 https://github.com/monarch-initiative/mondo/issues/4521 MCS MRXS4 Miles-CARPENTER X-linked mental retardation syndrome Miles-Carpenter syndrome WRWF WRWFXLR Wieacker Wolff syndrome Wieacker syndrome Wieacker-Wolff syndrome Wieacker-Wolff syndrome, X-linked Wieacker-Wolff syndrome, X-linked recessive X-linked intellectual disability, Miles-Carpenter type apraxia, oculomotor, with congenital contractures and muscle atrophy contractures of feet, muscle atrophy, and oculomotor apraxia foot contractures-muscle atrophy-oculomotor apraxia syndrome intellectual disability-developmental delay-contractures syndrome mental retardation, X-linked, syndromic 4 mental retardation, X-linked, with congenital contractures and Low fingertip arches mental retardation, X-linked, with congenital contractures and low fingertip arches Wieacker-Wolff syndrome MONDO:0010759 Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly), bilateral abducens palsy with retracted eyes (Duane syndrome) and congenital perceptive deafness. Cervicooculoacoustic syndrome Wildervanck syndrome COA syndrome cervico-oculo-acoustic dysplasia cervico-oculo-acoustic syndrome Wildervanck syndrome https://rarediseases.info.nih.gov/diseases/5569/wildervanck-syndrome MONDO:0010760 XH antigen XH antigen MONDO:0010761 Y-linked form of retinitis pigmentosa. https://github.com/monarch-initiative/mondo/issues/4521 RPY Y-linked retinitis pigmentosa retinitis pigmentosa, Y-linked retinitis pigmentosa, y-linked, y-linked retinitis pigmentosa Y-linked MONDO:0010762 lymphoma, Hodgkin, Y-linked pseudoautosomal Hodgkin disease, Y-linked Pseudoautosomal lymphoma, Hodgkin, Y-linked pseudoautosomal MONDO:0010763 https://github.com/monarch-initiative/mondo/issues/4521 spermatogenic failure, Y-linked, 1 spermatogenic failure, Y-linked, 1, Y-linked spermatogenic failure, Y-linked, type 1 SPGFY1 Sertoli cell-only syndrome, Y-linked Sertoli cell-only syndrome, type 1 Sertoli cell-only syndrome, type 2 hypospermatogenesis incomplete Sertoli cell-only syndrome spermatogenic failure, Y-linked, 1 MONDO:0010764 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNY1 deafness, Y-linked 1 deafness, y-linked 1, y-linked hearing loss, Y-linked 1 MONDO:0010765 46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype. 46 XY gonadal dysgenesis 46, XY CGD 46, XY complete gonadal dysgenesis 46, XY pure gonadal dysgenesis 46,XY CGD 46,XY SEX reversal 46,XY gonadal dysgenesis 46,XY pure gonadal dysgenesis Swyer syndrome pure gonadal dysgenesis 46,XY gonadal dysgenesis, XY female type sex-reversing locus on X sex-reversing locus on X, formerly testis-determining Factor, X-chromosomal 46,XY complete gonadal dysgenesis MONDO:0010767 https://github.com/monarch-initiative/mondo/issues/4521 spermatogenic failure, Y-linked, 2 spermatogenic failure, Y-linked, 2, Y-linked spermatogenic failure, Y-linked, type 2 Azf regions SPGFY2 azoospermia Factor regions azoospermia, nonobstructive, Y-linked oligospermia, nonobstructive, Y-linked oligozoospermia, nonobstructive, Y-linked spermatogenic arrest, Y-linked spermatogenic failure, nonobstructive, Y-linked spermatogenic failure, Y-linked, 2 MONDO:0010768 A mixed germ cell/sex cord-stromal tumor characterized by the presence of large germ cells which resemble seminoma cells and small cells which resemble Sertoli or granulosa cells. It occurs in the testis and the ovary and is identified in children and adults. It is often associated with gonadal dysgenesis and abnormal karyotype. gonad blastoma gonadoblastoma gonadoblastoma MONDO:0010769 https://github.com/monarch-initiative/mondo/issues/4521 hairy ears, Y-linked hairy ears, Y-linked, Y-linked hypertrichosis pinnae auris, Y-linked hairy ears, Y-linked MONDO:0010770 ubiquitin-activating enzyme, Y-linked Ube1Y ubiquitin-activating enzyme, Y-linked MONDO:0010771 Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterised by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium. Arachnocytosis of the myocardium Purkinje cell hamartoma congenital cardiomyopathy foamy myocardial transformation of infancy histiocytoid cardiomyopathy infantile cardiomyopathy with histiocytoid change infantile xanthomatous cardiomyopathy isolated Cardiac lipidosis myocardial hamartoma oncocytic cardiomyopathy cardiomyopathy, focal Lipid cardiomyopathy, infantile histiocytoid cardiomyopathy, infantile xanthomatous cardiomyopathy, oncocytic focal lipid cardiomyopathy infantile histiocytoid cardiomyopathy histiocytoid cardiomyopathy https://rarediseases.info.nih.gov/diseases/9511/infantile-histiocytoid-cardiomyopathy MONDO:0010772 Leber optic atrophy and dystonia LDYT LHON and dystonia Leber Hereditary optic neuropathy with dystonia Leber hereditary optic neuropathy with dystonia Leber's hereditary optic neuropathy with dystonia Marsden syndrome dystonia familial, with visual failure and striatal lucencies dystonia, familial, with visual failure and striatal lucencies Leber optic atrophy and dystonia MONDO:0010773 mitochondrial myopathy with diabetes mitochondrial myopathy, lipid type myopathy and diabetes mellitus MONDO:0010774 striatonigral degeneration, infantile, mitochondrial bilateral striatal Necrosis, infantile, mitochondrial infantile bilateral striatal Necrosis, mitochondrial striatonigral degeneration, infantile, mitochondrial MONDO:0010775 An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has material basis in mutation in the MTTS2 gene in the mitochondrial genome. https://github.com/monarch-initiative/mondo/issues/551 retinitis pigmentosa-deafness syndrome RP21, formerly RP8, formerly retinitis pigmentosa 21 retinitis pigmentosa 21, formerly retinitis pigmentosa 8 retinitis pigmentosa 8, formerly Editor note: check relationship to Usher 3 from ORDO retinitis pigmentosa-deafness syndrome MONDO:0010776 hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial MONDO:0010777 cardiomyopathy, infantile hypertrophic MONDO:0010778 A rare abnormality of the neuroendocrine system that is characterized by episodic nausea and vomiting. cyclic vomiting syndrome CVS Cvs-plus cyclic vomiting syndrome with neuromuscular disease cyclic vomiting syndrome-plus cyclic vomiting syndrome MONDO:0010779 https://github.com/monarch-initiative/mondo/issues/551 deafness, isolated, due to mitochondrial transmission isolated mitochondrial neurosensory deafness isolated mitochondrial sensorineural deafness mitochondrial non-syndromic neurosensory deafness mitochondrial non-syndromic sensorineural deafness deafness, nonsyndromic sensorineural, mitochondrial mitochondrial non-syndromic sensorineural hearing loss MONDO:0010780 benign COX deficiency infantile reversible cytochrome C oxidase deficiency myopathy mitochondrial myopathy with reversible COX deficiency mitochondrial myopathy with reversible complex IV deficiency reversible infantile cytochrome C oxidase deficiency reversible infantile respiratory chain deficiency Cox deficiency myopathy, infantile, transient MMIT mitochondrial myopathy, infantile, transient mitochondrial myopathy, infantile, transient, due to respiratory chain deficiency respiratory chain deficiency, infantile, transient mitochondrial myopathy with reversible cytochrome C oxidase deficiency MONDO:0010781 https://github.com/monarch-initiative/mondo/issues/3195 https://github.com/monarch-initiative/mondo/issues/5666 ataxia and polyneuropathy, adult-onset MONDO:0010782 myopathy, lactic acidosis, and sideroblastic anemia 3 myopathy, lactic acidosis, and sideroblastic anemia type 3 MLASA3 myopathy, lactic acidosis, and sideroblastic anemia 3 MONDO:0010784 chloramphenicol toxicity anemia, chloramphenicol-induced chloramphenicol resistance chloramphenicol toxicity MONDO:0010785 Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness. MIDD mitochondrial diabetes Ballinger Wallace syndrome Ballinger-Wallace syndrome Niddm with deafness diabetes and deafness, maternally inherited diabetes mellitus type II with deafness diabetes mellitus, type II, with deafness diabetes-deafness syndrome, maternally Transmitted maternally inherited diabetes and deafness noninsulin-dependent diabetes mellitus with deafness maternally-inherited diabetes and deafness https://rarediseases.info.nih.gov/diseases/4003/maternally-inherited-diabetes-and-deafness MONDO:0010786 Chronic diarrhea with villous atrophy is a rare, genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insuficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994. diarrhea, chronic, with villous atrophy chronic diarrhea with villous atrophy MONDO:0010787 Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block. Kearns-Sayre syndrome CPEO with myopathy CPEO with ragged red fibers CPEO with ragged-Red fibers KSS chronic progressive external ophthalmoplegia with myopathy mitochondrial Cytopathy oculocraniosomatic syndrome ophthalmoplegia plus syndrome ophthalmoplegia, pigmentary Degeneration of retina, and cardiomyopathy ophthalmoplegia, progressive external, with ragged red fibers ophthalmoplegia, progressive external, with ragged-Red fibers ophthalmoplegia-plus syndrome Kearns-Sayre syndrome https://rarediseases.info.nih.gov/diseases/6817/kearns-sayre-syndrome MONDO:0010788 Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers. LHON Leber Hereditary optic atrophy Leber hereditary optic neuropathy Leber optic atrophy Leber's hereditary optic neuropathy Leber's optic atrophy Leber’s disease optic atrophy, Leber type Leber hereditary optic neuropathy MONDO:0010789 MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations. MELAS syndrome mitochondrial encephalomyopathy, lactic acidosis and stroke mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes MELAS mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes MELAS syndrome MONDO:0010790 A condition that can be caused by mutation(s) in more than one mitochondrial gene. It is characterized by myoclonic epilepsy and ragged-red fibers present on muscle biopsy. Fukuhara syndrome MERRF syndrome myoclonic epilepsy - ragged red fibers myoclonus epilepsy and ragged red fibers myoclonus epilepsy associated with ragged-red fibres myoclonus with epilepsy and with ragged Red fibers myoclonus with epilepsy and with ragged Red fibers (MERRF syndrome) MERRF myoclonic epilepsy associated with ragged red fibers myoclonic epilepsy associated with ragged-RED fibers myoclonic epilepsy with ragged red fibers myoencephalopathy ragged-red fiber disease MERRF syndrome MONDO:0010791 An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. The exact prevalence remains unknown. In the majority of cases, the disease manifests in childhood and is often triggered by exertion or infection (febrile illness). Hypertonia, muscle stiffness and muscle pain, impaired kidney function and elevated levels of serum creatine kinase are common clinical features. Mutations in the mitochondrial DNA-encoded cytochrome C oxidase genes (MT-CO1 and MT-CO2) should be considered in patients with recurrent myoglobinuria. Recently, mutations in the LPIN1 gene (chromosome 2p21) have been reported to have a causative role in three patients with recurrent episodes of myoglobinuria, originating from consanguineous families. The disorder may occur sporadically, or be inherited in either a recessive or dominant manner. myoglobinuria, recurrent myoglobinuria recurrent myoglobinuria, recurrent https://rarediseases.info.nih.gov/diseases/3879/myoglobinuria-recurrent MONDO:0010792 Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures. LIMD LIMM lethal infantile mitochondrial disease mitochondrial myopathy, lethal, infantile lethal infantile mitochondrial myopathy MONDO:0010793 nephropathy, chronic tubulointerstitial nephropathy, chronic tubulointerstitial MONDO:0010794 Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy. NARP syndrome neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome neuropathy-ataxia-retinitis pigmentosa syndrome NARP neuropathy ataxia retinitis pigmentosa syndrome neuropathy, ataxia, and retinitis pigmentosa NARP syndrome MONDO:0010795 A usually benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic neoplasms of the thyroid gland, and kidney. (NCI05) oncocytoma oncocytic neoplasm oncocytic tumor oncocytoma, benign oncocytic neoplasm MONDO:0010796 Parkinson disease, mitochondrial Parkinson disease, mitochondrial MONDO:0010797 Pearson syndrome is characterized by refractory sideroblastic anemia, vacuolization of bone marrow precursors and exocrine pancreatic dysfunction. Pearson marrow-pancreas syndrome Pearson's marrow/pancreas syndrome Pearson's syndrome sideroblastic Anemia with marrow cell vacuolization and exocrine pancreatic dysfunction sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction (formerly) Pearson syndrome https://rarediseases.info.nih.gov/diseases/7343/pearson-syndrome MONDO:0010798 Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome is characterised by onset of proximal tubulopathy in the first year of life, followed by progressive development during childhood of skin anomalies (erythrocyanosis and abnormal pigmentation), blindness, osteoporosis, cerebellar ataxia, mitochondrial myopathy, deafness and diabetes mellitus. proximal tubulopathy, diabetes mellitus and cerebellar ataxia renal tubulopathy, diabetes mellitus, and cerebellar ataxia renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome MONDO:0010799 https://github.com/monarch-initiative/mondo/issues/4279 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 aminoglycoside-induced hearing loss mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure mitochondrial isolated sensorineural hearing loss with susceptibility to aminoglycoside exposure mitochondrial non-syndromic neurosensory hearing loss with susceptibility to aminoglycoside exposure mitochondrial non-syndromic sensorineural hearing loss with susceptibility to aminoglycoside exposure aminoglycoside-induced deafness deafness, aminoglycoside-induced deafness, mitochondrial, modifier of, mitochondrial deafness, streptomycin-induced mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure mitochondrial non-syndromic neurosensory deafness with susceptibility to aminoglycoside exposure mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure streptomycin ototoxicity deafness, aminoglycoside-induced MONDO:0010800 Wolfram syndrome, mitochondrial form Didmoad syndrome, mitochondrial form diabetes insipidus and mellitus with optic atrophy and deafness, mitochondrial form Wolfram syndrome, mitochondrial form MONDO:0010801 Spondylo-camptodactyly syndrome is characterized by camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis. camptodactyly with cervical platyspondyly spondylo camptodactyly syndrome spondylocamptodactyly spondylocamptodactyly syndrome MONDO:0010802 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis). https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/5723 Yorifuji-Okuno syndrome pancreatic hypoplasia-diabetes-congenital heart disease syndrome HDCA Yorifuji Okuno syndrome congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease heart defects, congenital, and other congenital anomalies hereditary pancreatic hypoplasia, diabetes mellitus and congenital heart disease pancreatic agenesis and congenital heart defects pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease pancreatic hypoplasia-diabetes-congenital heart disease syndrome MONDO:0010803 Eiken syndrome is a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family. https://github.com/monarch-initiative/mondo/issues/4948 Eiken syndrome Eiken skeletal dysplasia bone modeling defect of hands and feet Eiken syndrome MONDO:0010805 Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall. https://github.com/monarch-initiative/mondo/issues/3650 bladder exstrophy (disease) bladder exstrophy bladder exstrophy (disease) classic exstrophy of the bladder ectopia vesicae bladder exstrophy and epispadias Complex exstrophy of bladder exstrophy of the bladder bladder exstrophy MONDO:0010806 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF8 gene. PRPF8 retinitis pigmentosa RP13 retinitis pigmentosa 13 retinitis pigmentosa caused by mutation in PRPF8 retinitis pigmentosa type 13 RP 13 retinitis pigmentosa 13 https://rarediseases.info.nih.gov/diseases/10388/retinitis-pigmentosa-13 MONDO:0010807 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB2 MYO7A autosomal recessive nonsyndromic deafness autosomal recessive deafness 2 autosomal recessive nonsyndromic deafness 2 autosomal recessive nonsyndromic deafness caused by mutation in MYO7A autosomal recessive nonsyndromic deafness type 2 deafness, autosomal recessive 2 deafness, autosomal recessive type 2 neurosensory nonsyndromic recessive deafness 2 autosomal recessive nonsyndromic hearing loss 2 MONDO:0010808 Fatal familial insomnia (FFI) is a very rare form of prion disease characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances. fatal familial insomnia FFI Insomnia familial fatal Insomnia, fatal familial familial fatal insomnia fatal familial INSOMNIA fatal familial insomnia https://rarediseases.info.nih.gov/diseases/6429/fatal-familial-insomnia MONDO:0010809 A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome). familial CML-like syndrome CML-like syndrome, familial myelocytic leukemia-like syndrome, familial, chronic familial chronic myelocytic leukemia-like syndrome https://rarediseases.info.nih.gov/diseases/10141/myelocytic-leukemia-like-syndrome-familial-chronic MONDO:0010810 An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol). The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and rickets. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 CYP2R1 vitamin D-dependent rickets, type 1 Vitam D hydroxylation-deficient rickets type 1b rickets due to defect in vitamin D 25-hydroxylation deficiency vitamin D 25-Hydroxylase deficiency vitamin D hydroxylation-deficient rickets type 1b vitamin D hydroxylation-deficient rickets, type 1B vitamin D-dependent rickets, type 1 caused by mutation in CYP2R1 25-Hydroxyvitamin D3 deficiency, selective Pseudovitamin D3 deficiency rickets due to 25-Hydroxylase deficiency VDDR1B vitamin D-dependent rickets, type 1B vitamin D hydroxylation-deficient rickets, type 1B MONDO:0010811 A non-cancerous nodular enlargement of the prostate gland. It is characterized by the presence of epithelial cell nodules, and stromal nodules containing fibrous and smooth muscle elements. It is the most common urologic disorder in men, causing blockage of urine flow. benign prostatic hyperplasia (disease) prostate hypertrophy prostatic hypertrophy benign hyperplasia of prostate benign hyperplasia of the prostate benign prostate hyperplasia benign prostatic Hypertrophy benign prostatic hyperplasia benign prostatic hyperplasia (disease) benign prostatic hyperplasia - BPH benign prostatic hypertrophy BPH prostatic hyperplasia, benign benign prostatic hyperplasia MONDO:0010812 macrocytosis, familial macrocytosis, familial MONDO:0010813 https://github.com/monarch-initiative/mondo/issues/4521 diabetes mellitus, insulin-dependent, neonatal pancreatic beta cell agenesis with neonatal diabetes mellitus pancreatic beta cell agenesis with neonatal diabetes mellitus MONDO:0010814 Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development, reported in only two siblings (one terminated in pregnancy) to date, characterized by the clinical features of 46,XY complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested. Nivelon-Nivelon-Mabille syndrome chondrodysplasia-disorder of sex development syndrome chondrodysplasia-pseudohermaphroditism syndrome chondrodysplasia-pseudohermaphroditism syndrome MONDO:0010815 spondyloepiphyseal dysplasia tarda with characteristic facies spondyloepiphyseal dysplasia tarda with characteristic facies MONDO:0010816 Qazi-Markouizos syndrome is characterised principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibres. Seizures or an abnormal electroencephalograph were also reported. To date, the syndrome has been reported in three unrelated Puerto Rican boys. https://github.com/monarch-initiative/mondo/issues/5588 Dysharmonic skeletal maturation - muscular fibre disproportion Dysharmonic skeletal maturation-muscular fiber disproportion syndrome Qazi-Markouizos syndrome Dysharmonic skeletal maturation muscular fibre disproportion PUERTO RICAN infant hypotonia syndrome Puertorican infant hypotonia syndrome hypotonia, psychomotor retardation, seizures, delayed and Dysharmonic skeletal maturation, and congenital fibre type disproportion Qazi Markouizos syndrome https://rarediseases.info.nih.gov/diseases/371/qazi-markouizos-syndrome MONDO:0010817 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KCNQ4 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA2A KCNQ4 autosomal dominant nonsyndromic deafness autosomal dominant deafness 2A autosomal dominant nonsyndromic deafness 2A autosomal dominant nonsyndromic deafness caused by mutation in KCNQ4 autosomal dominant nonsyndromic deafness type 2A deafness, autosomal dominant 2A deafness, autosomal dominant 2a deafness, autosomal dominant type 2A autosomal dominant nonsyndromic hearing loss 2A MONDO:0010818 Any retinitis pigmentosa in which the cause of the disease is a mutation in the CRB1 gene. https://github.com/monarch-initiative/mondo/issues/4521 CRB1 retinitis pigmentosa RP12 retinitis pigmentosa 12 retinitis pigmentosa caused by mutation in CRB1 retinitis pigmentosa type 12 retinitis pigmentosa-12 RP 12 RP with or without Pprpe RP with or without preserved Paraarteriole retinal pigment epithelium retinitis pigmentosa with or without Paraarteriolar preservation of retinal pigment epithelium retinitis pigmentosa 12 https://rarediseases.info.nih.gov/diseases/10376/retinitis-pigmentosa-12 MONDO:0010819 Stargardt disease 3 Stargardt disease type 3 STGD3 Stargardt-like macular dystrophy, autosomal dominant macular dystrophy with flecks, type 3 Stargardt disease 3 MONDO:0010820 A group of disorders which feature impaired motor control characterized by bradykinesia, muscle rigidity; tremor; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see parkinson disease), secondary parkinsonism (see parkinson disease, secondary) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the basal ganglia. https://github.com/monarch-initiative/mondo/issues/4521 PRKN young-onset Parkinson disease Parkinson disease, juvenile, type 2 autosomal recessive juvenile Parkinson disease 2 autosomal recessive juvenile Parkinson disease type 2 young-onset Parkinson disease caused by mutation in PRKN JP PARK2 PDJ Parkinson disease 2 Parkinson disease 2, autosomal recessive juvenile Parkinson disease autosomal recessive, early onset Parkinson disease, juvenile, autosomal recessive Parkinsonism, early onset, with diurnal fluctuation Parkinsonism, early-onset, with diurnal fluctuation autosomal recessive juvenile Parkinson disease autosomal recessive juvenile Parkinson's disease 2 juvenile parkinsonism autosomal recessive juvenile Parkinson disease 2 MONDO:0010821 Familial developmental dysphasia is a severe form of developmental verbal apraxia characterized by a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters, and comprehension delay. Hearing and intelligence are normal. Billard-Toutain-Maheut syndrome FOXP2-associated dysphasia developmental dysphasia familial developmental language disorder dysphasia, familial developmental specific language impairment familial developmental dysphasia https://rarediseases.info.nih.gov/diseases/1823/developmental-dysphasia-familial MONDO:0010822 Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP1 gene. RAB3GAP1 Warburg micro syndrome WARBM1 Warburg micro syndrome 1 Warburg micro syndrome caused by mutation in RAB3GAP1 Warburg micro syndrome type 1 micro syndrome 1 WARBURG micro syndrome 1 micro syndrome Warburg micro syndrome 1 MONDO:0010823 Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the AGPS gene. https://github.com/monarch-initiative/mondo/issues/2632 https://github.com/monarch-initiative/mondo/issues/4948 AGPS deficiency alkyldihydroxyacetonephosphate synthase deficiency alkylglycerone-phosphate synthase deficiency AGPS rhizomelic chondrodysplasia punctata RCDP3 rhizomelic chondrodysplasia punctata caused by mutation in AGPS rhizomelic chondrodysplasia punctata type 3 rhizomelic chondrodysplasia punctata, type 3 rhizomelic chondrodysplasia punctata type 3 https://rarediseases.info.nih.gov/diseases/9682/rhizomelic-chondrodysplasia-punctata-type-3 MONDO:0010824 A rare syndrome with 46,XY disorder of sex development characterized by variable degrees of intellectual disability, short stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias and persistence of Müllerian structures), and ocular anomalies (microphthalmia, coloboma). Craniofacial peculiarities (coarse features, deep set eyes), spina bifida, imperforate anus, and sensorineural hearing loss were also described. No new cases have been reported since 1994. https://github.com/monarch-initiative/mondo/issues/5588 Verloes-Gillerot-Fryns syndrome pseudohermaphroditism-intellectual disability syndrome Male pseudohermaphroditism intellectual disability syndrome, Verloes type Verloes Gillerot Fryns syndrome Verloes syndrome disorder of sex development intellectual disability male pseudohermaphroditism/intellectual disability syndrome, Verloes type male pseudohermaphroditism/mental retardation syndrome, Verloes type disorder of sex development-intellectual disability syndrome MONDO:0010825 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome is a rare, genetic multiple congenital anomaly syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects. Houlston-Ironton-Temple syndrome atrioventricular septal defect with blepharophimosis and anal and radial defects atrioventricular defect-blepharophimosis-radial and anal defect syndrome MONDO:0010826 Childhood absence epilepsy (CAE) is a familial generalized pediatric epilepsy, characterized by very frequent (multiple per day) absence seizures, usually occurring in children between the ages of 4 and 10 years, with, in most cases, a good prognosis. pyknolepsy absence seizure petit mal seizure childhood absence epilepsy MONDO:0010827 Any retinitis pigmentosa in which the cause of the disease is a mutation in the TULP1 gene. RP14 TULP1 retinitis pigmentosa retinitis pigmentosa 14 retinitis pigmentosa caused by mutation in TULP1 retinitis pigmentosa type 14 RP 14 retinitis pigmentosa 14 https://rarediseases.info.nih.gov/diseases/10385/retinitis-pigmentosa-14 MONDO:0010828 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF31 gene. https://github.com/monarch-initiative/mondo/issues/5693 PRPF31 retinitis pigmentosa RP11 retinitis pigmentosa 11 retinitis pigmentosa caused by mutation in PRPF31 retinitis pigmentosa type 11 RP 11 retinitis pigmentosa 11 https://rarediseases.info.nih.gov/diseases/10383/retinitis-pigmentosa-11 MONDO:0010829 CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia. CARASIL Maeda syndrome cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy cerebrovascular disease with thin skin, alopecia, and disc disease subcortical vascular encephalopathy, progressive CARASIL syndrome MONDO:0010830 Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN8 gene. CLN8 CLN8 neuronal ceroid lipofuscinosis ceroid lipofuscinosis, neuronal, type 8 neuronal ceroid lipofuscinosis 8 neuronal ceroid lipofuscinosis caused by mutation in CLN8 neuronal ceroid lipofuscinosis type 8 CLN8 disease ceroid lipofuscinosis, neuronal, 8 neuronal ceroid lipofuscinosis 8 MONDO:0010831 Familial caudal dysgenesis is a rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies. Rudd-Klimek syndrome caudal regression familial caudal dysgenesis SDAM Sdam caudal dysgenesis familial type caudal dysgenesis syndrome caudal regression syndrome sacral agenesis sacral defect with anterior meningocele sirenomelia familial caudal dysgenesis MONDO:0010832 BBS3 Bardet-Biedl syndrome 3 Bardet-Biedl syndrome type 3 Bardet-Biedl syndrome 3 https://rarediseases.info.nih.gov/diseases/822/bardet-biedl-syndrome-3 MONDO:0010833 An inherited susceptibility or predisposition to developing Hirschsprung disease Hirschsprung disease in which the cause of the disease is a mutation in the EDNRB gene. https://github.com/monarch-initiative/mondo/issues/4882 EDNRB Hirschsprung disease Hirschsprung disease caused by mutation in EDNRB Hirschsprung disease, susceptibility to, 2 Hirschsprung disease, susceptibility to, type 2 HSCR2 Hirschsprung disease type 2 susceptibility to Hirschsprung disease 2 Hirschsprung disease, susceptibility to, 2 https://rarediseases.info.nih.gov/diseases/2698/hirschsprung-disease-type-2 MONDO:0010834 https://github.com/monarch-initiative/mondo/issues/4882 HSCR5 Hirschsprung disease, susceptibility to, 5 Hirschsprung disease, susceptibility to, 5 MONDO:0010835 Pterygium colli-intellectual disability-digital anomalies syndrome is characterized by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears). It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant. https://github.com/monarch-initiative/mondo/issues/5588 khalifa-Graham syndrome pterygium colli and intellectual disability with facial and digital anomalies pterygium colli and mental retardation with facial and digital anomalies pterygium colli intellectual disability digital anomalies pterygium colli mental retardation digital anomalies pterygium colli-intellectual disability-digital anomalies syndrome MONDO:0010836 https://github.com/monarch-initiative/mondo/issues/4521 NNO1 nanophthalmos 1 nanophthalmos-1 Nanophthalmia 1 microphthalmos, simple, autosomal dominant nanophthalmos with high hyperopia and angle-closure glaucoma nanophthalmos, autosomal dominant nanophthalmos 1 MONDO:0010837 Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. primary hyperparathyroidism (disease) primary hyperparathyroidism primary hyperparathyroidism (disease) Editor note: check relationship to parent and familiar form primary hyperparathyroidism MONDO:0010838 A congenital disorder characterized by the complete absence of gonadal tissue. gonadal agenesis See https://github.com/obophenotype/human-phenotype-ontology/issues/3571 gonadal agenesis MONDO:0010839 Autosomal dominant congenital benign spinal muscular atrophy is a rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfuntion are usually also associated. autosomal dominant benign distal spinal muscular atrophy congenital benign spinal muscular atrophy with contractures congenital nonprogressive spinal muscular atrophy HMN8 neuronopathy, distal hereditary motor, type 8 neuronopathy, distal hereditary motor, type VIII neuropathy, distal hereditary motor, type 8 spinal muscular atrophy, congenital benign, with contractures spinal muscular atrophy, distal, congenital nonprogressive autosomal dominant congenital benign spinal muscular atrophy MONDO:0010840 A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated. https://github.com/monarch-initiative/mondo/issues/5588 Kuzniecky syndrome pachygyria with intellectual disability and seizures pachygyria with intellectual disability, seizures, and arachnoid cysts pachygyria with mental retardation and seizures pachygyria with mental retardation, seizures, and arachnoid cysts pachygyria, intellectual disability and epilepsy pachygyria, mental retardation and epilepsy pachygyria-intellectual disability-epilepsy syndrome MONDO:0010841 WS2B Waardenburg syndrome type IIB Waardenburg syndrome, type 2B Waardenburg syndrome type 2B https://rarediseases.info.nih.gov/diseases/5522/waardenburg-syndrome-type-2b MONDO:0010842 Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa. VMCM cutaneous and mucosal venous malformation VENOUS malformations, multiple cutaneous and mucosal Vmcm1 mucocutaneous venous malformations multiple cutaneous and mucosal venous malformations MONDO:0010843 DYX2 dyslexia, susceptibility to, 2 reading disability, specific, 2 dyslexia, susceptibility to, 2 MONDO:0010844 Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A2 gene. https://github.com/monarch-initiative/mondo/issues/4948 COL9A2 multiple epiphyseal dysplasia (disease) epiphyseal dysplasia, multiple, 2 epiphyseal dysplasia, multiple, type 2 multiple epiphyseal dysplasia (disease) caused by mutation in COL9A2 EDM2 epiphyseal dysplasia multiple 2 multiple epiphyseal dysplasia 2 epiphyseal dysplasia, multiple, 2 https://rarediseases.info.nih.gov/diseases/9791/multiple-epiphyseal-dysplasia-2 MONDO:0010846 EXT3 exostoses, multiple, type III exostoses, multiple, type 3 exostoses, multiple, type III MONDO:0010847 Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by ataxia with sensory neuropathy. SCA4 spinocerebellar ataxia 4 spinocerebellar ataxia autosomal dominant with sensory axonal neuropathy spinocerebellar ataxia, autosomal dominant, with sensory axonal neuropathy spinocerebellar ataxia type 4 MONDO:0010848 Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression. SCA5 spinocerebellar ataxia type 5 spinocerebellar ataxia 5 spinocerebellar ataxia type 5 MONDO:0010849 palmoplantar keratoderma, Bothnian type PPKB palmoplantar keratoderma, Bothnian type MONDO:0010850 facial clefting, oblique, type 1 OBLFC1 facial clefting, oblique, 1 oculomaxillofacial dysplasia with oblique Facial clefts Tessier number 4 facial cleft MONDO:0010851 Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations. https://github.com/monarch-initiative/mondo/issues/5588 Lowry-MacLean syndrome Lowry MacLean syndrome intellectual disability, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis and growth failure mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis and growth failure Lowry-MacLean syndrome MONDO:0010852 https://github.com/monarch-initiative/mondo/issues/3664 chromosome 8Q12.1-q21.2 deletion syndrome Branchio-Oto-renal Duane hydrocephalus contiguous gene syndrome bor-Duane hydrocephalus contiguous Gene syndrome chromosome 8Q12.1-q21.2 deletion syndrome MONDO:0010853 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 H. pylori infection, susceptibility to Helicobacter pylori infection, susceptibility to Helicobacter pylori infection, susceptibility to MONDO:0010854 Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital. https://github.com/monarch-initiative/mondo/issues/4521 aplasia cutis congenita-epibulbar dermoids syndrome oculoectodermal syndrome oculoectodermal syndrome, somatic Toriello Lacassie Droste syndrome aplasia cutis congenita with epibulbar dermoids oculo-ectodermal syndrome oes Toriello-Lacassie-Droste syndrome MONDO:0010855 Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. Lopes-Gorlin syndrome Lopes Gorlin syndrome short tarsus absence of lower eyelashes short tarsus with absence of LOWER eyelashes stale short tarsus-absence of lower eyelashes syndrome MONDO:0010856 Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterised by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system). tuberous sclerosis/polycystic kidney disease contiguous gene syndrome PKDTS chromosome 16P13.3 deletion syndrome, distal polycystic kidney disease, infantile severe, with tuberous sclerosis polycystic kidneys, severe infantile with tuberous sclerosis tuberous sclerosis polycystic kidney disease contiguous gene syndrome autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis MONDO:0010857 Semantic dementia (SD) is a form of frontotemporal dementia (FTD), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes. https://github.com/monarch-initiative/mondo/issues/4521 dementia, frontotemporal dementia, frontotemporal, with or without parkinsonism semantic primary progressive aphasia semantic variant PPA FTD Ftdp17 Ftld with Tau inclusions Pallidopontonigral Degeneration Pick Complex Wilhelmsen-Lynch disease dementia, frontotemporal, with Parkinsonism disinhibition-dementia-Parkinsonism-amyotrophy Complex frontotemporal dementia frontotemporal dementia with Parkinsonism frontotemporal lobar Degeneration with Tau inclusions frontotemporal lobe dementia multiple system tauopathy with presenile dementia semantic dementia MONDO:0010858 Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive. https://github.com/monarch-initiative/mondo/issues/5588 Fryns macrocephaly macrocephaly with spastic paraplegia and distinctive craniofacial appearance macrocephaly-spastic paraplegia-dysmorphism syndrome MONDO:0010859 Any atrioventricular septal defect in which the cause of the disease is a mutation in the GJA1 gene. GJA1 atrioventricular septal defect atrioventricular septal defect 3 atrioventricular septal defect caused by mutation in GJA1 atrioventricular septal defect type 3 AVSD3 atrioventricular septal defect 3 MONDO:0010860 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO15A gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB3 MYO15A autosomal recessive nonsyndromic deafness NRSD3 autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3 autosomal recessive nonsyndromic deafness 3 autosomal recessive nonsyndromic deafness caused by mutation in MYO15A autosomal recessive nonsyndromic deafness type 3 deafness, autosomal recessive 3 deafness, autosomal recessive type 3 neurosensory nonsyndromic recessive deafness 3 autosomal recessive nonsyndromic hearing loss 3 MONDO:0010861 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 15q26. https://github.com/monarch-initiative/mondo/issues/5033 IDDM3 insulin-dependent diabetes mellitus 3 diabetes mellitus, insulin-dependent, 3 type 1 diabetes mellitus 3 MONDO:0010862 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 11q13. https://github.com/monarch-initiative/mondo/issues/5033 IDDM4 insulin-dependent diabetes mellitus 4 diabetes mellitus, insulin-dependent, 4 type 1 diabetes mellitus 4 MONDO:0010863 Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the SUMO4 gene. https://github.com/monarch-initiative/mondo/issues/5033 IDDM5 SUMO4 type 1 diabetes mellitus diabetes mellitus, insulin-dependent, type 5 insulin-dependent diabetes mellitus 5 type 1 diabetes mellitus caused by mutation in SUMO4 diabetes mellitus, insulin-dependent, 5 type 1 diabetes mellitus 5 MONDO:0010864 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 2q31. https://github.com/monarch-initiative/mondo/issues/5033 IDDM7 insulin-dependent diabetes mellitus 7 diabetes mellitus, insulin-dependent, 7 type 1 diabetes mellitus 7 MONDO:0010865 Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature. https://github.com/monarch-initiative/mondo/issues/5588 ASSA aminopterin syndrome-like sine aminopterin pseudoaminopterin syndrome aminopterin syndrome sine aminopterin pseudoaminopterin syndrome https://rarediseases.info.nih.gov/diseases/4544/pseudoaminopterin-syndrome MONDO:0010866 This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus. osteopetrosis and infantile neuroaxonal dystrophy infantile osteopetrosis with neuroaxonal dysplasia MONDO:0010867 PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990. PARC syndrome poikiloderma-alopecia-retrognathism-cleft palate syndrome poikiloderma, alopecia, retrognathism, and cleft palate PARC syndrome https://rarediseases.info.nih.gov/diseases/4223/parc-syndrome MONDO:0010868 https://github.com/monarch-initiative/mondo/issues/4521 RMD1 rippling muscle disease 1 rippling muscle disease-1 rippling muscle disease, 1 rippling muscle disease 1 MONDO:0010869 motor neuron disease with dementia and ophthalmoplegia motor neuron disease with dementia and ophthalmoplegia MONDO:0010870 A distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life. Finnish tibial muscular dystrophy TMD Udd myopathy Udd type distal myopathy distal myopathy, Udd type distal titinopathy tardive tibial muscular dystrophy Tmd tibial muscular dystrophy, tardive tibial muscular dystrophy MONDO:0010871 succinic acidemia succinic acidemia MONDO:0010872 PDDP parotid salivary glands, polycystic dysgenetic disease OF parotid salivary glands, polycystic dysgenetic disease of MONDO:0010873 band heterotopia of brain BH band heterotopia Editor check: TODO band heterotopia of brain MONDO:0010874 enteropathy, familial, with villous edema and immunoglobulin G2 deficiency enteropathy, familial, with villous edema and immunoglobulin G2 deficiency MONDO:0010875 pachydermodactyly, familial pachydermodactyly, familial MONDO:0010876 Recessive aplasia cutis congenita of limbs is an extremely rare variant of aplasia cutis congenita (ACC) characterized by the congenital absence of skin on the upper and/or lower limbs, with these lesions usually healing spontaneously resulting in a hypotrichotic scar. Recessive ACC of limbs may be associated with junctional epidermolysis bullosa. The inheritance was hypothesized to be autosomal recessive. There have been no further descriptions in the literature since 1980. aplasia cutis congenita of limbs recessive aplasia cutis congenita of limbs, autosomal recessive congenital absence of skin on the upper or lower limbs recessive aplasia cutis congenita of the limbs recessive aplasia cutis congenita of limbs https://rarediseases.info.nih.gov/diseases/754/aplasia-cutis-congenita-of-limbs-recessive MONDO:0010877 Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity. Charcot-Marie-Tooth disease-pyramidal features syndrome HMSN 5 hereditary motor and sensory neuropathy type 5 hereditary motor and sensory neuropathy with pyramidal features CMT with pyramidal features Charcot-Marie-Tooth disease with pyramidal features, autosomal dominant Charcot-Marie-Tooth neuropathy with pyramidal features, autosomal dominant HMSN5 hereditary motor and sensory neuropathy 5 hereditary motor and sensory neuropathy V peroneal muscular atrophy with pyramidal features, autosomal dominant Charcot-Marie-Tooth disease type 5 MONDO:0010878 Autosomal dominant spastic paraplegia type 6 (SPG6) is a form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment. FSP3 NIPA1 hereditary spastic paraplegia SPG6 autosomal dominant familial spastic paraplegia type 3 autosomal dominant spastic paraplegia 6 autosomal dominant spastic paraplegia type 6 hereditary spastic paraplegia caused by mutation in NIPA1 hereditary spastic paraplegia type 6 familial spastic paraplegia autosomal dominant 3 familial spastic paraplegia, autosomal dominant, 3 spastic paraplegia 6 spastic paraplegia 6, autosomal dominant hereditary spastic paraplegia 6 MONDO:0010879 Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies. https://github.com/monarch-initiative/mondo/issues/4948 CODAS syndrome cerebrooculodentoauriculoskeletal syndrome cerebral, ocular, dental, auricular, and skeletal anomalies syndrome cerebral, ocular, dental, auricular, and skeletal syndrome cerebro-oculo-dento-auriculo-skeletal syndrome CODAS syndrome https://rarediseases.info.nih.gov/diseases/1418/codas-syndrome MONDO:0010880 Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the ACVRL1 gene. ACVRL1 hereditary hemorrhagic telangiectasia hereditary hemorrhagic telangiectasia caused by mutation in ACVRL1 telangiectasia, hereditary hemorrhagic, type 2 HHT2 ORW2 Osler Weber Rendu syndrome type 2 hereditary hemorrhagic telangiectasia type 2 pulmonary arterial hypertension, hereditary hemorrhagic telangiectasia-related telangiectasia hereditary hemorrhagic type 2 telangiectasia, hereditary hemorrhagic, type 2 https://rarediseases.info.nih.gov/diseases/9901/hereditary-hemorrhagic-telangiectasia-type-2 MONDO:0010881 A syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies. https://github.com/monarch-initiative/mondo/issues/4948 8q13 microdeletion syndrome Del(8)q(13) Verloes-David syndrome mesomelia-synostoses syndrome mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type monosomy 8q13 chromosome 8Q13 deletion syndrome dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis mesomelia synostoses mesomelic dysplasia, syndromic mesomelia-synostoses syndrome https://rarediseases.info.nih.gov/diseases/4302/mesomelia-synostoses-syndrome MONDO:0010882 Aphalangy-syndactyly-microcephaly is an extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability. Aphalangia, partial, with syndactyly and Duplication of metatarsal type 4 APHALANGIA, partial, with syndactyly and DUPLICATION of metatarsal IV Aphalangia partial with syndactyly and duplication of metatarsal IV Aphalangia, partial, with syndactyly and Duplication of metatarsal 4 aphalangy-syndactyly-microcephaly syndrome https://rarediseases.info.nih.gov/diseases/748/aphalangia-partial-with-syndactyly-and-duplication-of-metatarsal-iv MONDO:0010883 Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992. Zori-Stalker-Williams syndrome Zori Stalker Williams syndrome familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails pectus excavatum, macrocephaly and dysplastic nails pectus excavatum, macrocephaly, short stature, and dysplastic nails pectus excavatum-macrocephaly-dysplastic nails syndrome MONDO:0010884 muscular dystrophy, scapulohumeral muscular dystrophy, scapulohumeral MONDO:0010885 angiokeratoma corporis diffusum with arteriovenous fistulas angiokeratoma corporis diffusum with arteriovenous fistulas MONDO:0010886 A chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism. https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/4948 2q37 microdeletion syndrome 2q37 monosomy Albright hereditary osteodystrophy type 3 Albright hereditary osteodystrophy-like syndrome BDMR Del(2)(q37) brachydactyly intellectual disability syndrome brachydactyly mental retardation syndrome brachydactyly-intellectual disability syndrome deletion 2q37 deletion 2q37-qter monosomy 2q37-qter 2q37 deletion syndrome brachydactyly-mental retardation syndrome chromosome 2q37 deletion syndrome 2q37 microdeletion syndrome MONDO:0010887 Anterior cervical hypertrichosis is a rare form of localised hypertrichosis characterised by hair growth near the laryngeal prominence during childhood. Tsukahara-Kajii syndrome hairy throat syndrome Tsukahara Kajii syndrome anterior cervical hypertrichosis hairy throat hypertrichosis, anterior cervical isolated anterior cervical hypertrichosis https://rarediseases.info.nih.gov/diseases/8438/isolated-anterior-cervical-hypertrichosis MONDO:0010888 The growth of endometrial tissue inside the muscular wall of the uterine corpus. Clinical manifestations include pain, dysmenorrhea, and menorrhagia. https://github.com/monarch-initiative/mondo/issues/5241 adenomyosis of the uterus adenomyosis of uterus endometriosis (disease) of myometrium endometriosis interna endometriosis of myometrium endometriosis of uterus endometriosis, myometrium myometrium endometriosis (disease) uterine adenomyosis uterine corpus adenomyosis uterus corpus adenomyosis Editor note: NCIT does not classify as a subtype of endometriosis adenomyosis MONDO:0010889 Arterial dissection-lentiginosis is a rare association syndrome, reported in several members of two families to date, and characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (ex. headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities). arterial dissection with lentiginosis arterial dissection-lentiginosis syndrome MONDO:0010890 Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit. https://github.com/monarch-initiative/mondo/issues/5588 ACFS CCGE syndrome acrocardiofacial syndrome cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome CCGE cleft palate, CARDIAC defect, genital anomalies, and ectrodactyly acrocardiofacial syndrome MONDO:0010891 Waters-West syndrome is characterized by the association of lethal non-spherocytic, non-immune hemolytic anemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions (at 6 and 12 weeks gestation) but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance. Although the parents were not known to be consanguineous, they shared a French-Canadian and American Indian ethnic origin. water-West syndrome hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities lethal hemolytic anemia-genital anomalies syndrome MONDO:0010893 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 malignant hyperthermia susceptibility 4 malignant hyperthermia, susceptibility to, 4 malignant hyperthermia, susceptibility to, type 4 MHS4 Mhs4 malignant hyperpyrexia susceptibility type 4 malignant hyperthermia susceptibility type 4 malignant hyperthermia, susceptibility to, 4 https://rarediseases.info.nih.gov/diseases/3366/malignant-hyperthermia-susceptibility-type-4 MONDO:0010894 Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1A, encoding hepatocyte nuclear factor 1-alpha. https://github.com/monarch-initiative/mondo/issues/4521 HNF1A maturity-onset diabetes of the young (disease) HNF1A-associated monogenic diabetes MODY type 3 MODY, type III MODY3 hepatocyte nuclear Factor 1-Alpha-associated monogenic diabetes maturity-onset diabetes of the young (disease) caused by mutation in HNF1A maturity-onset diabetes of the young type 3 MODY hepatocyte nuclear factor-1-alpha related MODY, type 3 diabetes mellitus MODY type 3 maturity-onset diabetes of the young, type 3 type 3 maturity-onset diabetes of the young maturity-onset diabetes of the young type 3 https://rarediseases.info.nih.gov/diseases/10658/maturity-onset-diabetes-of-the-young-type-3 MONDO:0010895 An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has material basis in a mutation in the endothelin B receptor gene (EDNRB). https://github.com/monarch-initiative/mondo/issues/5682 ABCD syndrome albinism, block lock, cell migration disorder of the neurocytes of the gut, and deafness ABCDS albinism, black lock, cell migration disorder of the Neurocytes of the gut, and deafness ABCD syndrome MONDO:0010896 Pigment-dispersion syndrome is an eye disorder that occurs when pigment granules that normally adhere to the back of the iris (the colored part of the eye) flake off into the clear fluid produced by the eye (aqueous humor). These pigment granules may flow towards the drainage canals of the eye, slowly clogging them and raising the pressure within the eye (intraocular pressure or IOP). This rise in eye pressure can cause damage to the optic nerve (the nerve in the back of the eye that carries visual images to the brain). If the optic nerve becomes damaged, pigment-dispersion syndrome becomes pigmentary glaucoma. This happens in about 30% of cases. Pigment-dispersion syndrome commonly presents between the second and fourth decades, which is earlier than other types of glaucoma. While men and women are affected in equal numbers, men develop pigmentary glaucoma up to 3 times more often than women. Myopia (nearsightedness) appears to be an important risk factor in the development of pigment-dispersion syndrome and is present in up to 80% of affected individuals. The condition may be sporadic or follow an autosomal dominant pattern of inheritance with reduced penetrance. At least one gene locus on chromosome 7 has been identified. Pigment-dispersion syndrome can be treated with eye drops or other medications. In some cases, laser surgery may be performed. glaucoma-related pigment dispersion syndrome pigment dispersion syndrome pigment-dispersion type glaucoma GPDS1 glaucoma, pigment-dispersion type glaucoma-RELATED pigment dispersion syndrome pigment-dispersion syndrome pigment dispersion syndrome https://rarediseases.info.nih.gov/diseases/4356/pigment-dispersion-syndrome MONDO:0010897 A schizophrenia that has material basis in an autosomal dominant mutation of SCZD3 on chromosome 6p23. SCZD3 schizophrenia 3 schizophrenia 3 with or without an affective disorder schizophrenia susceptibility locus, chromosome 6-related schizophrenia 3 MONDO:0010898 A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution. https://github.com/monarch-initiative/mondo/issues/1134 https://github.com/monarch-initiative/mondo/issues/2614 ADEAF ADLTE ADPEAF Autosomal dominant epilepsy with auditory features autosomal dominant lateral temporal lobe epilepsy partial epilepsy with auditory aura partial epilepsy with auditory features ETL1 epilepsy, familial temporal lobe 1 epilepsy, familial temporal lobe, type 1 familial temporal lobe epilepsy 1 familial temporal lobe epilepsy type 1 autosomal dominant epilepsy with auditory features autosomal dominant partial epilepsy with auditory features epilepsy, familial temporal lobe, 1 epilepsy, lateral temporal lobe, autosomal dominant epilepsy, partial, with auditory features Editor note: split out generic type Autosomal dominant epilepsy with auditory features MONDO:0010899 Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA4 gene. CHRNA4 autosomal dominant nocturnal frontal lobe epilepsy ENFL1 autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNA4 autosomal dominant nocturnal frontal lobe epilepsy type 1 epilepsy, nocturnal frontal lobe, type 1 nocturnal frontal lobe epilepsy 1 epilepsy, nocturnal frontal lobe, 1 autosomal dominant nocturnal frontal lobe epilepsy 1 MONDO:0010900 intrauterine growth retardation with increased mitomycin c sensitivity intrauterine growth retardation with increased mitomycin c sensitivity https://rarediseases.info.nih.gov/diseases/5593/intrauterine-growth-retardation-with-increased-mitomycin-c-sensitivity MONDO:0010901 HEC syndrome is characterised by communicating hydrocephalus, endocardial fibroelastosis (EFE), and congenital cataracts. It has been described in two children, both of whom died a few months after birth (the first as a result of a respiratory infection and the second due to cardiac complications). The aetiology of the syndrome is unknown but a viral or genetic origin has been proposed. HEC syndrome hydrocephalus-endocardial fibroelastosis-cataract syndrome communicating hydrocephalus, endocardial fibroelastosis (EFE) and congenital cataracts hydrocephalus, endocardial fibroelastosis, and cataracts Editor note: Orphanet classifies as both familial and non-familial, dilated and restrictive cardiomyopathy HEC syndrome https://rarediseases.info.nih.gov/diseases/2620/hec-syndrome MONDO:0010902 Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process. spondyloepiphyseal dysplasia with atlantoaxial instability spondyloepiphyseal dysplasia, Reardon type MONDO:0010903 craniosynostosis, Adelaide type CRSA craniosynostosis, Adelaide type MONDO:0010904 setting-Sun phenomenon, familial benign setting-Sun phenomenon, familial benign MONDO:0010905 https://github.com/monarch-initiative/mondo/issues/4521 CORD1 CRD1 cone-rod dystrophy 1 cone-rod dystrophy type 1 cone-rod retinal dystrophy-1 Crd1 cone-rod dystrophy 1 https://rarediseases.info.nih.gov/diseases/10651/cone-rod-dystrophy-1 MONDO:0010906 Any orofacial cleft in which the cause of the disease is a mutation in the BMP4 gene. BMP4 orofacial cleft orofacial cleft 11 orofacial cleft caused by mutation in BMP4 orofacial cleft type 11 OFC11 cleft Lip, congenital Healed cleft lip with or without cleft palate, nonsyndromic, 11 congenital Healed cleft lip orofacial cleft 11 MONDO:0010907 Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria. https://github.com/monarch-initiative/mondo/issues/4521 hypertryptophanemia familial hypertryptophanemia HYPTRP hypertryptophanemia, familial familial hypertryptophanemia https://rarediseases.info.nih.gov/diseases/2871/hypertryptophanemia MONDO:0010908 Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma. loose anagen hair syndrome loose anagen syndrome MONDO:0010909 Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC6 gene. ERCC6 UV-sensitive syndrome UV-sensitive syndrome 1 UV-sensitive syndrome caused by mutation in ERCC6 UV-sensitive syndrome type 1 UVSS1 UV-sensitive syndrome 1 MONDO:0010910 Nocturnal enuresis with at least 3 nightly episodes in children older than 7 years, where the child has always had the disorder. ENUR1 enuresis, nocturnal, 1 Bedwetting enuresis, nocturnal, 1 MONDO:0010911 Prolactinoma is a usually benign neoplasm of the pituitary gland that results in hyperprolactinemia. The most common clinical manifestations are amenorrhea and infertility in women; and impotence, decreased libido and infertility in men. PRL producing pituitary gland adenoma PRL-secreting pituitary adenoma PRLoma familial prolactinoma lactotrope adenoma lactotroph adenoma lactotroph cell adenoma pituitary adenoma, prolactin-secreting pituitary gland prolactinoma pituitary lactotrophic adenoma pituitary prolactinoma prolactin producing adenoma of pituitary prolactin producing adenoma of pituitary gland prolactin producing adenoma of the pituitary prolactin producing adenoma of the pituitary gland prolactin producing pituitary adenoma prolactin producing pituitary gland adenoma prolactin secreting adenoma prolactin secreting adenoma of pituitary prolactin secreting adenoma of pituitary gland prolactin secreting adenoma of the pituitary prolactin secreting adenoma of the pituitary gland prolactin secreting pituitary adenoma prolactin secreting pituitary gland adenoma prolactin-producing pituitary gland adenoma prolactin-secreting pituitary adenoma prolactinoma prolactinoma of pituitary prolactinoma of pituitary gland prolactinoma of the pituitary prolactinoma of the pituitary gland Forbes-Albright syndrome (formerly) prolactinoma, familial prolactin-producing pituitary gland adenoma MONDO:0010912 Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the TUBB3 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5506 TUBB3 congenital fibrosis of extraocular muscles congenital fibrosis of extraocular muscles caused by mutation in TUBB3 fibrosis of extraocular muscles, congenital, 3A fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement CFEOM3A Feom3 locus fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement MONDO:0010913 Caroli disease (CD) is a rare congenital liver disease characterized by non-obstructive cystic dilatations of the intra-hepatic and rarely extra-hepatic bile ducts. CAROLI disease, isolated Caroli disease isolated congenital polycystic dilatation of intrahepatic bile ducts cystic dilatation of the intrahepatic biliary tree Caroli disease https://rarediseases.info.nih.gov/diseases/6002/caroli-disease MONDO:0010914 The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease. https://github.com/monarch-initiative/mondo/issues/4521 CPT II deficiency, infantile CPT2, hepatocardiomuscular form CPT2, severe infantile form CPTII, hepatocardiomuscular form CPTII, severe infantile form Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form Carnitine palmitoyl transferase deficiency type 2, severe infantile form carnitine palmitoyl transferase II deficiency, severe infantile form CARNITINE PALMITOYLTRANSFERASE II deficiency, infantile CPT 2 deficiency, hepatic Carnitine Palmitoyltransferase 2 deficiency with hypoketotic hypoglycemia Carnitine Palmitoyltransferase 2 deficiency, hepatocardiomuscular Carnitine Palmitoyltransferase 2 deficiency, infantile Cpt2 deficiency, infantile carnitine palmitoyl transferase II deficiency, severe infantile form MONDO:0010915 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH14 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA4A MYH14 autosomal dominant nonsyndromic deafness autosomal dominant deafness 4A autosomal dominant nonsyndromic deafness 4A autosomal dominant nonsyndromic deafness caused by mutation in MYH14 autosomal dominant nonsyndromic deafness type 4A deafness, autosomal dominant 4 deafness, autosomal dominant 4A deafness, autosomal dominant 4a deafness, autosomal dominant type 4A autosomal dominant nonsyndromic hearing loss 4A MONDO:0010916 Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the GANAB gene. Apkd3 GANAB autosomal dominant polycystic kidney disease PKD3 Pkd3 autosomal dominant polycystic kidney disease caused by mutation in GANAB polycystic kidney disease 3 polycystic kidney disease 3 with or without polycystic liver disease polycystic kidney disease 3, autosomal dominant polycystic kidney disease type 3 polycystic kidney disease, adult, type 3 polycystic kidney disease, adult, type III polycystic kidney disease, type 3 polycystic kidney disease 3 with or without polycystic liver disease MONDO:0010917 CCAL1 chondrocalcinosis 1 chondrocalcinosis with early-onset osteoarthritis chondrocalcinosis 1 MONDO:0010918 https://github.com/monarch-initiative/mondo/issues/2543 https://github.com/monarch-initiative/mondo/issues/4147 EIG EIG1 epilepsy, idiopathic generalized, susceptibility to, 1 The OMIM entries here are named generically, the same as the PS but it refers to a susceptibility conferred by a specific gene. epilepsy, idiopathic generalized, susceptibility to, 1 MONDO:0010919 varicella, severe recurrent varicella, severe recurrent MONDO:0010920 A congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal. M-A congenital microtias microtia, congenital microtia-anotia microtias, congenital anotia microtia MONDO:0010921 A dermoid cyst that involves the nose. nasal dermoid sinus cyst dermoid cysts, familial frontonasal nasal dermoid cyst MONDO:0010922 Satoyoshi syndrome is a rare syndrome characterized by progressive, painful, intermittent muscle spasms. These muscle spasms usually start between 6-15 years old. Other symptoms of the syndrome may include diarrhea and an inability of the digestive tract to absorb certain foods, especially carbohydrates (malabsorption). People affected by Satoyoshi syndrome may also have loss of hair on the head and body (alopecia universalis), short stature, and skeletal abnormalities. Women with Satoyoshi syndrome may not have a menstrual cycle (amenorrhea). In all published cases, only one person in a family has Satoyoshi syndrome. This is even true when the person with Satoyoshi syndrome comes from a large family. Satoyoshi syndrome seems to be more common in Japan. The exact cause of the syndrome is unknown, but some researchers think it may be an autoimmune disease. Satoyoshi syndrome can be diagnosed when a doctor sees symptoms that are consistent with the syndrome. The diagnosis can be confirmed by a variety of laboratory tests. Treatment for Satoyoshi syndrome includes medication to suppress the immune system. Komuragaeri disease Satoyoshi syndrome muscle spasms, intermittent with alopecia, diarrhea and skeletal abnormalities muscle spasms, intermittent, with alopecia, diarrhea, and skeletal abnormalities Satoyoshi syndrome https://rarediseases.info.nih.gov/diseases/160/satoyoshi-syndrome MONDO:0010923 proximal myopathy with focal depletion of mitochondria proximal myopathy with focal depletion of mitochondria MONDO:0010924 D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid. D-2-HGA D-2-hydroxyglutaric acidemia D-2-hydroxyglutaric aciduria type 1 D-2-hydroxyglutaric aciduria 1 D2HA D2HGA D-2-hydroxyglutaric aciduria MONDO:0010925 Velo-facial-skeletal syndrome is a very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported. VELOFACIOSKELETAL syndrome velo-facial-skeletal syndrome MONDO:0010926 Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the AP2S1 gene. https://github.com/monarch-initiative/mondo/issues/4521 AP2S1 familial hypocalciuric hypercalcemia FHH type 3 HHC3 familial hypocalciuric hypercalcemia caused by mutation in AP2S1 familial hypocalciuric hypercalcemia type 3 hpocalciuric hypercalcemia, type III hypocalciuric hypercalcemia type III FBH3 FBHOk familial benign hypercalcemia, Oklahoma variant familial benign hypercalcemia, type 3 hypercalcemia, familial benign, Oklahoma type hypercalcemia, familial benign, type 3 hypocalciuric hypercalcemia, familial, type 3 hypocalciuric hypercalcemia, familial, type III familial hypocalciuric hypercalcemia 3 MONDO:0010927 OFC3 orofacial cleft 3 cleft lip with or without cleft palate, nonsyndromic, 3 orofacial cleft 3 MONDO:0010928 dwarfism, familial, with muscle spasms dwarfism familial with muscle spasms familial dwarfism and painful muscle spasms dwarfism, familial, with muscle spasms https://rarediseases.info.nih.gov/diseases/10610/dwarfism-familial-with-muscle-spasms MONDO:0010929 Any craniosynostosis in which the cause of the disease is a mutation in the ERF gene. https://github.com/monarch-initiative/mondo/issues/4948 ERF craniosynostosis ERF-related craniosynostosis craniosynostosis 4 craniosynostosis caused by mutation in ERF craniosynostosis type 4 CRS4 craniosynostosis 4 MONDO:0010930 Anophthalmia plus syndrome is a very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested. Fryns microphthalmia syndrome microphthalmia with facial clefting Fryns anophthalmia syndrome Leichtman Wood Rohn syndrome anophthalmia, cleft lip/palate, facial anomalies, and CNS anomalies and hypothalamic disorder anophthalmia-plus syndrome anophthalmia plus syndrome https://rarediseases.info.nih.gov/diseases/719/anophthalmia-plus-syndrome MONDO:0010931 Rickets caused by a post-receptor defect in the vitamin D signaling pathway producing vitamin D resistance due to constitutive overexpression of a nuclear ribonucleoprotein that competes with the vitamin D receptor-retinoid X receptor dimer binding with DNA vitamin D response elements. This condition has a similar phenotype to vitamin D receptor deficiency rickets including elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations. https://github.com/monarch-initiative/mondo/issues/4948 hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor without alopecia vitamin D dependent rickets 2b vitamin D receptor signaling defect rickets vitamin D resistant rickets vitamin D-dependent rickets type II without alopecia VDDR2B vitamin D-dependent rickets, type 2B, with normal vitamin D receptor vitamin D-dependent rickets, type 2B MONDO:0010932 Progressive bifocal chorioretinal atrophy (PBCRA) is an early-onset chorioretinal dystrophy characterized by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression. CRAPB PBCRA progressive bifocal chorioretinal atrophy Crapb chorioretinal atrophy, progressive bifocal progressive bifocal chorioretinal atrophy https://rarediseases.info.nih.gov/diseases/10123/progressive-bifocal-chorioretinal-atrophy MONDO:0010933 An autosomal recessive nonsyndromic deafness that has material basis in mutation in the SLC26A4 gene on chromosome 7q22. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 enlarged vestibular aqueduct enlarged vestibular aqueduct, digenic DFNB4 autosomal recessive deafness 4 with enlarged vestibular aqueduct autosomal recessive nonsyndromic deafness 4 autosomal recessive nonsyndromic deafness type 4 deafness, autosomal recessive 4, with enlarged vestibular aqueduct neurosensory nonsyndromic recessive deafness 4 dilated vestibular aqueduct autosomal recessive nonsyndromic hearing loss 4 MONDO:0010936 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the CHMP2B gene. CHMP2B amyotrophic lateral sclerosis CHMP2B-related amyotrophic lateral sclerosis FTD3 amyotrophic lateral sclerosis caused by mutation in CHMP2B amyotrophic lateral sclerosis, Chmp2B-related frontotemporal dementia, chromosome 3-linked Dmt1 dementia, familial nonspecific frontotemporal dementia and/or amyotrophic lateral sclerosis 7 MONDO:0010937 isoproterenol-mediated vasodilatation isoproterenol-mediated vasodilatation MONDO:0010938 Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive. https://github.com/monarch-initiative/mondo/issues/4521 SCID, autosomal recessive, T-negative/B-positive type T-B+ SCID due to JAK3 deficiency T-B+ severe combined immunodeficiency due to JAK3 deficiency T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency SCID, T cell-negative, B cell-positive, NK cell-negative severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency severe combined immunodeficiency, autosomal recessive, T cell-NEGATIVE, B cell-POSITIVE, NK cell-NEGATIVE T-B+ severe combined immunodeficiency due to JAK3 deficiency MONDO:0010939 Low phospholipid associated cholelithiasis is a rare genetic hepatic disease characterized by cholesterol gallstones and intrahepatic stones developing before the age of 40 years. ABCB4 gene mutation-associated cholelithiasis LPAC cholelithiasis with ABCB4 gene mutation gallbladder disease type 1 GBD1 cholelithiasis, Low phospholipid-associated gallbladder disease 1 low phospholipid associated cholelithiasis MONDO:0010940 https://github.com/monarch-initiative/mondo/issues/4521 asthma, nocturnal, susceptibility to asthma, bronchial asthma, diminished response to Antileukotriene treatment 1N asthma, protection against asthma, susceptibility to asthma-related traits, susceptibility to inherited susceptibility to asthma MONDO:0010941 Nocturnal enuresis where the child has been dry for at least 6 months but enuresis has recurred. ENUR2 enuresis, nocturnal, 2 nocturnal enuresis, 2 MONDO:0010943 A schizophrenia that has material basis in an autosomal dominant mutation of PRODH on chromosome 22q11.21. https://github.com/monarch-initiative/mondo/issues/4521 SCZD4 schizophrenia 4 schizophrenia type 4 schizophrenia, susceptibility to, 4 schizophrenia susceptibility locus, chromosome 22Q11-related schizophrenia 4 MONDO:0010944 mitochondrial import-stimulating factor MSF mitochondrial import-stimulating factor MONDO:0010945 Any retinitis pigmentosa in which the cause of the disease is a mutation in the CA4 gene. CA4 retinitis pigmentosa RP17 retinitis pigmentosa 17 retinitis pigmentosa caused by mutation in CA4 retinitis pigmentosa type 17 RP 17 retinitis pigmentosa 17 https://rarediseases.info.nih.gov/diseases/10387/retinitis-pigmentosa-17 MONDO:0010946 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PRKAG2 gene. https://github.com/monarch-initiative/mondo/issues/4521 CMH6 PRKAG2 hypertrophic cardiomyopathy cardiomyopathy, familial hypertrophic 6 cardiomyopathy, familial hypertrophic, type 6 cardiomyopathy, hypertrophic 6 hypertrophic cardiomyopathy 6 hypertrophic cardiomyopathy caused by mutation in PRKAG2 hypertrophic cardiomyopathy type 6 cardiomyopathy, familial hypertrophic, 6 hypertrophic cardiomyopathy 6 MONDO:0010947 Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava. https://github.com/monarch-initiative/mondo/issues/4521 Budd-Chiari syndrome Budd-Chiari syndrome, somatic BDCHS membranous obstruction of Inferior vena cava membranous obstruction of the inferior vena cava Budd-Chiari syndrome https://rarediseases.info.nih.gov/diseases/5968/budd-chiari-syndrome MONDO:0010948 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA1 gene. CRYBA1 early-onset non-syndromic cataract CTRCT10 early-onset non-syndromic cataract caused by mutation in CRYBA1 CCZS congenital zonular cataract with sutural opacities cataract 10, multiple types cataract, congenital zonular, with sutural opacities cataract 10 multiple types MONDO:0010949 Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood. https://github.com/monarch-initiative/mondo/issues/4521 CMT2B Charcot-Marie-Tooth disease type 2 caused by mutation in RAB7A Charcot-Marie-Tooth disease, type 2B Charcot-Marie-Tooth neuropathy type 2B HMSN IIB HMSN2B RAB7A Charcot-Marie-Tooth disease type 2 autosomal dominant Charcot-Marie-Tooth disease type 2B hereditary motor and sensory nueropathy IIB CMT 2B Charcot Marie Tooth disease type 2B Charcot-Marie-Tooth disease, autosomal dominant, type 2B Charcot-Marie-Tooth disease, axonal, type 2B Charcot-Marie-Tooth disease, neuronal, type 2B Charcot-Marie-Tooth neuropathy, type 2B hereditary motor and sensory neuropathy 2 B (HMSN 2 B) hereditary motor and sensory neuropathy 2B peripheral sensory neuropathy, autosomal dominant (PSN) Charcot-Marie-Tooth disease type 2B https://rarediseases.info.nih.gov/diseases/9192/charcot-marie-tooth-disease-type-2b MONDO:0010950 A type 1 diabetes mellituss that has material basis in mutation of the locus at chromosome 6q25-q27. https://github.com/monarch-initiative/mondo/issues/5033 IDDM8 insulin-dependent diabetes mellitus 8 diabetes mellitus, insulin-dependent, 8 type 1 diabetes mellitus 8 MONDO:0010951 A dilated cardiomyopathy that has material basis in variation in the chromosome region 9q13. https://github.com/monarch-initiative/mondo/issues/4521 cardiomyopathy, dilated 1B dilated cardiomyopathy type 1B cardiomyopathy, dilated, 1B cardiomyopathy, familial dilated cardiomyopathy, familial dilated, 1 dilated cardiomyopathy 1B MONDO:0010952 Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload. https://github.com/monarch-initiative/mondo/issues/4069 Bonneau-Beaumont syndrome HHCS hereditary hyperferritinemia-cataract syndrome HRFTC cataract-hyperferritinemia syndrome hereditary hyperferritinemia cataract syndrome hyperferritinemia cataract syndrome hyperferritinemia with or without cataract hyperferritinemia, hereditary, with congenital cataracts hyperferritinemia-cataract syndrome hereditary hyperferritinemia with congenital cataracts MONDO:0010953 Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2. FANCE FANCE Fanconi anemia Fanconi Anemia, complementation group type E Fanconi anemia caused by mutation in FANCE Fanconi anemia complementation group E Fanconi anemia complementation group type E face Fanconi anemia, complementation group E Fanconi anemia complementation group E MONDO:0010954 Wiskott-Aldrich syndrome, autosomal dominant form Wiskott-Aldrich syndrome, autosomal dominant form MONDO:0010955 ectodermal dysplasia with intellectual disability and syndactyly ectodermal dysplasia with mental retardation and syndactyly ectodermal dysplasia intellectual disability syndactyly ectodermal dysplasia mental retardation syndactyly ectodermal dysplasia with intellectual disability and syndactyly MONDO:0010956 enamel hypoplasia, cataracts, and aqueductal stenosis Seow Najjar syndrome enamel hypoplasia, capsular cataracts, and ductal stenosis enamel hypoplasia, cataracts, and aqueductal stenosis MONDO:0010957 https://github.com/monarch-initiative/mondo/issues/5902 2023-05-01 agonadism, 46,XY, with intellectual disability, short stature, retarded bone age, and multiple extragenital malformations agonadism, 46,XY, with mental retardation, short stature, retarded bone age, and multiple extragenital malformations KENNERKNECHT syndrome Kennerknecht syndrome Reason: terms merged in OMIM. This will be merged with MONDO:0032738 gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy agonadism, 46,XY, with intellectual disability, short stature, retarded bone age, and multiple extragenital malformations MONDO:0010958 ankyrin-B syndrome cardiac arrhythmia, ankyrin-b-related LQT4 Editor note: we follow OMIM in making LQT4 and ANK2-related cardiac arrhythmia to be equivalent cardiac arrhythmia, ankyrin-B-related MONDO:0010959 Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features. Marden-Walker-like syndrome VDEGS van den Ende-Gupta syndrome Marden Walker like syndrome Marden Walker like syndrome without psychomotor retardation Marden-Walker-like syndrome without psychomotor retardation VAN DEN Ende-Gupta syndrome Van den Ende Gupta syndrome blepharophimosis, arachnodactyly, and congenital contractures van den Ende-Gupta syndrome MONDO:0010960 protocadherin 3 protocadherin type 3 Pcdh3 protocadherin 3 MONDO:0010961 Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterised by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones. https://github.com/monarch-initiative/mondo/issues/4521 PCI deficiency obesity with impaired prohormone processing obesity and endocrinopathy due to impaired processing of prohormones proprotein convertase 1/3 deficiency obesity due to prohormone convertase I deficiency MONDO:0010962 A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis. https://github.com/monarch-initiative/mondo/issues/4095 KRT1-related diffuse nonepidermolytic keratoderma NEPPK diffuse nonepidermolytic palmoplantar keratoderma diffuse palmoplantar keratoderma, Bothnian type non-epidermolytic palmoplantar keratoderma nonepidermolytic palmoplantar keratoderma palmoplantar keratoderma, nonepidermolytic autosomal dominant diffuse palmoplantar keratoderma, Norrbotten type PPK diffusa circumscripta PPKNE Thost-Unna disease Thost-Unna palmoplantar keratoderma Thost-Unna syndrome Unna-Thost palmoplantar keratoderma Unna-Thost syndrome diffuse NEPPK keratoderma, nonepidermolytic palmoplantar tylosis diffuse nonepidermolytic palmoplantar keratoderma MONDO:0010963 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the WFS1 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA14 DFNA38 DFNA6 WFS1 autosomal dominant nonsyndromic deafness autosomal dominant deafness 14 autosomal dominant deafness 38 autosomal dominant deafness 6 autosomal dominant nonsyndromic deafness 6 autosomal dominant nonsyndromic deafness caused by mutation in WFS1 autosomal dominant nonsyndromic deafness type 6 deafness, autosomal dominant 14 deafness, autosomal dominant 38 deafness, autosomal dominant 6 deafness, autosomal dominant 6/14/38 deafness, autosomal dominant type 6 autosomal dominant nonsyndromic hearing loss 6 MONDO:0010964 Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A3 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 COL9A3 multiple epiphyseal dysplasia (disease) epiphyseal dysplasia, multiple, 3 epiphyseal dysplasia, multiple, 3, with or without myopathy epiphyseal dysplasia, multiple, type 3 multiple epiphyseal dysplasia (disease) caused by mutation in COL9A3 EDM3 epiphyseal dysplasia multiple 3 epiphyseal dysplasia, multiple, 3, with myopathy multiple epiphyseal dysplasia 3 epiphyseal dysplasia, multiple, 3 https://rarediseases.info.nih.gov/diseases/9792/multiple-epiphyseal-dysplasia-3 MONDO:0010965 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMIE gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB6 TMIE autosomal recessive nonsyndromic deafness autosomal recessive deafness 6 autosomal recessive nonsyndromic deafness 6 autosomal recessive nonsyndromic deafness caused by mutation in TMIE autosomal recessive nonsyndromic deafness type 6 deafness, autosomal recessive 6 deafness, autosomal recessive type 6 neurosensory nonsyndromic recessive deafness 6 autosomal recessive nonsyndromic hearing loss 6 MONDO:0010966 Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 achondrogenesis Fraccaro type achondrogenesis Ib achondrogenesis type IB achondrogenesis, Parenti-Fraccaro type ACG1B Fraccaro achondrogenesis achondrogenesis type 1B achondrogenesis, Fraccaro type achondrogenesis, type 1B achondrogenesis, type IB achondrogenesis type IB MONDO:0010967 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB11 DFNB7 TMC1 autosomal recessive nonsyndromic deafness autosomal recessive deafness 7 autosomal recessive nonsyndromic deafness 7 autosomal recessive nonsyndromic deafness caused by mutation in TMC1 autosomal recessive nonsyndromic deafness type 7 deafness, autosomal recessive 11 deafness, autosomal recessive 7 deafness, autosomal recessive type 7 autosomal recessive nonsyndromic hearing loss 7 MONDO:0010968 GLC3B glaucoma 3, primary infantile, B GLC3 type B Glc3, type B glaucoma 3 primary infantile B glaucoma primary congenita type 3B glaucoma, primary congenital, type B primary congenital glaucoma primary congenital glaucoma type 3B glaucoma 3, primary infantile, B https://rarediseases.info.nih.gov/diseases/2490/glaucoma-3-primary-infantile-b MONDO:0010969 Any cone-rod dystrophy in which the cause of the disease is a mutation in the PITPNM3 gene. CORD5 PITPNM3 cone-rod dystrophy cone-rod dystrophy 5 cone-rod dystrophy caused by mutation in PITPNM3 cone-rod dystrophy type 5 cone-rod dystrophy 5 https://rarediseases.info.nih.gov/diseases/10655/cone-rod-dystrophy-5 MONDO:0010970 cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies CPCMR cleft palate, CARDIAC defects, and intellectual disability cleft palate, CARDIAC defects, and mental retardation cleft palate, Cardiac defects, and intellectual disability cleft palate, Cardiac defects, and mental retardation cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies MONDO:0010971 Infundibulopelvic stenosis-multicystic kidney syndrome is a rare, genetic renal malformation syndrome characterized by variable degrees of malformation in the pelvicalyceal system (including unilateral or bilateral calyceal dilatation, infundibular stenosis, hypoplasia or stenosis of the renal pelvis) which lead to multicystic kidney. Clinically it exhibits abdominal, lumbar or flank pain, recurrent urinary tract infections, hypertension, proteinuria and often progresses to renal insufficiency. Calyceal dilatation and hydronephrosis are frequently seen on imaging. infundibulopelvic dysgenesis infundibulopelvic stenosis-multicystic kidney syndrome MONDO:0010972 This syndrome is characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly, and costovertebral dysplasia may also be present. Ferlini-Ragno-Calzolari syndrome Waaler-Aarskog syndrome hydrocephalus, Sprengel anomaly, and costovertebral dysplasia hydrocephalus, costovertebral dysplasia, and Sprengel anomaly hydrocephalus, skeletal anomalies, and mental disturbance hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome MONDO:0010973 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GSDME gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA5 GSDME autosomal dominant nonsyndromic deafness autosomal dominant deafness 5 autosomal dominant nonsyndromic deafness 5 autosomal dominant nonsyndromic deafness caused by mutation in GSDME autosomal dominant nonsyndromic deafness type 5 deafness, autosomal dominant 5 deafness, autosomal dominant type 5 autosomal dominant nonsyndromic hearing loss 5 MONDO:0010974 Any nephrotic syndrome in which the cause of the disease is a mutation in the NPHS2 gene. NPHS2 nephrotic syndrome nephrotic syndrome caused by mutation in NPHS2 nephrotic syndrome, type 2 NPHS2 SRN1 nephrotic syndrome, idiopathic, steroid-resistant nephrotic syndrome, steroid-resistant, autosomal recessive nephrotic syndrome, type 2 MONDO:0010975 Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the RYR2 gene. ARVC2 ARVD2 RYR2 familial isolated arrhythmogenic right ventricular dysplasia arrhythmogenic right ventricular cardiomyopathy 2 arrhythmogenic right ventricular dysplasia type 2 arrhythmogenic right ventricular dysplasia, familial, type 2 familial arrhythmogenic right ventricular dysplasia 2 familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in RYR2 arrhythmogenic right ventricular dysplasia, familial, 2 arrhythmogenic right ventricular dysplasia 2 MONDO:0010976 A basal subtype of epidermolysis bullosa simplex EBS characterized by generalized or, less frequently, localized acral blistering. https://github.com/monarch-initiative/mondo/issues/4499 https://github.com/monarch-initiative/mondo/issues/4521 EBS, autosomal recessive K14 EBS-AR KRT14 KRT14-related autosomal recessive EBS KRT14-related autosomal recessive epidermolysis bullosa simplex KRT14-related epidermolysis bullosa simplex epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive epidermolysis bullosa simplex, autosomal recessive type 1 EBSB1 epidermolysis bullosa simplex, autosomal recessive 1 epidermolysis bullosa simplex, autosomal recessive K14 epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive MONDO:0010977 Brody myopathy is a hereditary condition that affects the skeletal muscles (muscles used for movement). Symptoms typically begin in childhood and are characterized by muscle cramping and stiffening (myopathy) after exercise or other strenuous activity. These symptoms can worsen in cold temperatures and are usually painless, however, some individuals may have mild discomfort. Some cases of Brody myopathy are caused by mutations in the ATP2A1 gene. The cause of Brody myopathy for individuals not found to have an ATP2A1 gene mutation remains unknown. Brody myopathy is usually inherited in an autosomal recessive manner with a few reported cases of autosomal dominant inheritance. While there is no one treatment for Brody myopathy, certain muscle relaxants, such as dantrolene and blood pressure medications called calcium channel blockers, such as verapamil may be useful. Some researchers suggest that individuals found to have an ATP2A1 gene mutation have a slightly different disorder in which symptoms appear at an earlier age. They use the disease term 'Brody disease' for individuals with an identifiedmutation versus 'Brody syndrome' for those that do not. More research may help clarify whether these are two different disorders or a variation of the same disorder. Brody myopathy Brody disease sarcoplasmic reticulum -Ca2+ATPase deficiency Brody myopathy https://rarediseases.info.nih.gov/diseases/9158/brody-myopathy MONDO:0010978 portal vein, cavernous transformation of portal vein, cavernous transformation of MONDO:0010979 Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders. TIMOTHY syndrome TS Timothy syndrome long QT syndrome-syndactyly syndrome LQT8 long QT syndrome 8 long QT syndrome type 8 long QT syndrome with syndactyly Timothy syndrome https://rarediseases.info.nih.gov/diseases/9294/timothy-syndrome MONDO:0010980 Dincsoy-Salih-Patel syndrome midline malformations, multiple, with limb abnormalities and hypopituitarism Dincsoy syndrome midline malformations, multiple, with limb abnormalities and hypopituitarism MONDO:0010981 Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia. Holmes-Collins syndrome Holmes Collins syndrome absence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cyst, and other anomalies tibia absent polydactyly arachnoid cyst tibia, absence or hypoplasia of, with polydactyly, RETROCEREBELLAR arachnoid cyst, and other anomalies tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies absent tibia-polydactyly-arachnoid cyst syndrome https://rarediseases.info.nih.gov/diseases/5210/tibia-absent-polydactyly-arachnoid-cyst MONDO:0010982 ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin MONDO:0010983 A dystonia characterized by autosomal dominant inheritance of paroxysmal choreoathetosis and progressive spastic paraplegia, episodes are often precipitated by alcohol, fatigue, or emotional stress that has material basis in heterozygous mutation in the SLC2A1 gene on chromosome 1p34. https://github.com/monarch-initiative/mondo/issues/4985 DYT9 dystonia 9 dystonia type 9 episodic choreoathetosis/spasticity Cse choreoathetosis, paroxysmal, with episodic ataxia choreoathetosis, kinesigenic, with episodic ataxia and spasticity choreoathetosis/spasticity, episodic paroxysmal dystonic choreathetosis with episodic ataxia and spasticity dystonia 9 MONDO:0010984 A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding cadherin-23 (CDH23) on chromosome 10q22. It is inherited in an autosomal recessive manner. https://github.com/monarch-initiative/mondo/issues/4521 USH1D Usher syndrome type 1D Usher syndrome type ID Usher syndrome, type 1D/F digenic USHER syndrome, type ID Ush1D/F, Cdh23/Pcdh15, digenic Usher syndrome, type 1D Usher syndrome, type Id/F, Cdh23/Pcdh15, digenic Usher syndrome type 1D https://rarediseases.info.nih.gov/diseases/5438/usher-syndrome-type-1d MONDO:0010985 FAME1 benign adult familial myoclonic epilepsy 1 cortical myoclonic tremor with epilepsy, familial, 1 epilepsy, familial ADULT myoclonic, 1 epilepsy, familial adult myoclonic, 1 MONDO:0010986 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOF gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB9 NRSD9 OTOF autosomal recessive nonsyndromic deafness auditory neuropathy, autosomal recessive, 1 auditory neuropathy, nonsyndromic recessive autosomal recessive deafness 9 autosomal recessive nonsyndromic deafness 9 autosomal recessive nonsyndromic deafness caused by mutation in OTOF autosomal recessive nonsyndromic deafness type 9 deafness, autosomal recessive 9 deafness, autosomal recessive type 9 neurosensory nonsyndromic recessive deafness 9 autosomal recessive nonsyndromic hearing loss 9 MONDO:0010987 An autosomal recessive nonsyndromic deafness that has material basis in mutation in the TMPRSS3 gene on chromosome 21q22. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB10 DFNB8 NRSD8 autosomal recessive deafness 10 autosomal recessive deafness 8 autosomal recessive nonsyndromic deafness 8 autosomal recessive nonsyndromic deafness type 8 childhood-onset neurosensory autosomal recessive deafness 8 deafness, autosomal recessive 10 deafness, autosomal recessive 8 deafness, autosomal recessive 8/10 deafness, autosomal recessive type 8 deafness, childhood-onset neurosensory, autosomal recessive 8 neurosensory nonsyndromic recessive deafness 8 autosomal recessive nonsyndromic hearing loss 8 MONDO:0010988 Aplasia cutis-myopia syndrome is characterised by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant. Gershoni-Baruch-Leibo syndrome aplasia cutis myopia aplasia cutis congenita, high myopia, and cone-rod dysfunction aplasia cutis-myopia syndrome https://rarediseases.info.nih.gov/diseases/756/aplasia-cutis-myopia MONDO:0010989 Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome, is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MCllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used. MRKH syndrome type 2 MURCS association Mayer-Rokitansky-Küster-Hauser syndrome type 2 Mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome atypical MRKH syndrome Klippel-Feil deformity, conductive deafness, and absent vagina MRKH, type 2 MULLERIAN duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies MURCS Mayer-Rokitansky-Kuster-Hauser syndrome, type 2 Mayer-Rokitansky-Küster-Hauser syndrome type 2 MONDO:0010991 laterality defects, autosomal dominant laterality defects dominant laterality defects, autosomal dominant MONDO:0010992 https://github.com/monarch-initiative/mondo/issues/5588 Ayme-Gripp syndrome AYGRP AYME-Gripp syndrome Aymé-Gripp syndrome cataracts, congenital, with sensorineural deafness, Down syndrome-like Facial appearance, short stature, and intellectual disability cataracts, congenital, with sensorineural deafness, Down syndrome-like Facial appearance, short stature, and mental retardation Ayme-Gripp syndrome MONDO:0010993 Harrod syndrome is characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive. https://github.com/monarch-initiative/mondo/issues/5588 Harrod syndrome cranio-facio-digito-genital syndrome Harrod Doman Keele syndrome craniofacial digital genital anomalies Harrod syndrome MONDO:0010995 Any Charcot-Marie-Tooth disease type 1 in which the cause of the disease is a mutation in the LITAF gene. https://github.com/monarch-initiative/mondo/issues/4521 CMT slow nerve conduction type C CMT1C Charcot-Marie-Tooth disease type 1 caused by mutation in LITAF Charcot-Marie-Tooth disease, type 1C Charcot-Marie-Tooth neuropathy type 1C HMSN IC HMSN1C LITAF Charcot-Marie-Tooth disease type 1 neuropathy hereditary motor and sensory type 1C CMT 1C CMT, slow nerve conduction type C Charcot Marie Tooth disease type 1C Charcot-Marie-Tooth disease, demyelinating, type 1C Charcot-Marie-Tooth neuropathy, type 1C HMSN 1C neuropathy, hereditary motor and sensory, type 1C Charcot-Marie-Tooth disease type 1C https://rarediseases.info.nih.gov/diseases/1247/charcot-marie-tooth-disease-type-1c MONDO:0010996 HHT3 ORW3 Osler Weber Rendu syndrome type 3 telangiectasia hereditary hemorrhagic type 3 telangiectasia, hereditary hemorrhagic, type 3 hereditary hemorrhagic telangiectasia type 3 https://rarediseases.info.nih.gov/diseases/9902/hereditary-hemorrhagic-telangiectasia-type-3 MONDO:0010997 Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia. https://github.com/monarch-initiative/mondo/issues/4521 PSP Richardson syndrome Steele-Richardson-Olszewski disease Steele-Richardson-Olszewski syndrome classic PSP syndrome classic progressive supranuclear palsy syndrome supranuclear palsy, progressive supranuclear palsy, progressive, 1 supranuclear palsy, progressive, type 1 PSNP1 supranuclear palsy, progressive, 1 MONDO:0010998 A form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). The disease is caused by loss of function mutations of the gene ALG3 (3q27.3). ALG3-CDG ALG3-congenital disorder of glycosylation CDG syndrome type Id CDG-Id CDG1D CDGId carbohydrate deficient glycoprotein syndrome type Id congenital disorder of glycosylation type 1d congenital disorder of glycosylation type Id mannosyltransferase 6 deficiency ALG3-CDG (CDG-Id) CDG 1D CDG Id CDGS, type IV CDGS, type IV, formerly CDGS4 (formerly) carbohydrate-deficient glycoprotein syndrome type IV (formerly) carbohydrate-deficient glycoprotein syndrome, type IV carbohydrate-deficient glycoprotein syndrome, type IV, formerly congenital disorder of glycosylation, type Id ALG3-congenital disorder of glycosylation MONDO:0010999 Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay. https://github.com/monarch-initiative/mondo/issues/5588 Bindewald-Ulmer-Müller syndrome Bindewald Ulmer Muller syndrome FALLOT complex with severe mental and growth retardation fallot complex-intellectual disability-growth delay syndrome MONDO:0011000 guanylate cyclase 2E guanylate cyclase type 2E GC-E GUCY2E GUCY2EP Gucy2D, mouse, homolog of guanylate cyclase 2E, pseudogene guanylyl cyclase, Membrane, type E guanylate cyclase 2E MONDO:0011001 Any Brugada syndrome in which the cause of the disease is a mutation in the SCN5A gene. BRGDA1 Brugada syndrome 1 Brugada syndrome caused by mutation in SCN5A Brugada syndrome type 1 SCN5A Brugada syndrome Cardiac conduction defect, nonspecific right bundle branch block, St segment elevation, and sudden death syndrome sudden unexplained nocturnal death syndrome Brugada syndrome 1 MONDO:0011002 Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the MFN2 gene. https://github.com/monarch-initiative/mondo/issues/4521 Charcot-Marie-Tooth disease, type 6 neuropathy, hereditary motor and sensory, type 6 peripheral neuropathy and optic atrophy Charcot-Marie-Tooth disease, type 6A HMSN6A MFN2 hereditary motor and sensory neuropathy type 6 hereditary motor and sensory neuropathy VIA hereditary motor and sensory neuropathy type 6 caused by mutation in MFN2 neuropathy, hereditary motor and sensory, type VIA HMSN 6A neuropathy, hereditary motor and sensory, type 6A MONDO:0011003 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SCN5A gene. CDCD2 CMD1E SCN5A familial isolated dilated cardiomyopathy cardiomyopathy dilated with conduction defect type 2 cardiomyopathy, dilated, 1E cardiomyopathy, dilated, type 1E cardiomyopathy, dilated, with conduction defect 2 cardiomyopathy, dilated, with conduction disorder and arrhythmia dilated cardiomyopathy type 1E dilated cardiomyopathy with conduction defect 2 dilated cardiomyopathy with conduction disorder and arrhythmia familial isolated dilated cardiomyopathy caused by mutation in SCN5A dilated cardiomyopathy 1E https://rarediseases.info.nih.gov/diseases/5644/cardiomyopathy-dilated-with-conduction-defect-type-2 MONDO:0011004 This syndrome is characterised by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. It has been described in two brothers. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and foetal akinesia sequence. lissencephaly type 3 and bone dysplasia lissencephaly type III and bone dysplasia lissencephaly type 3-metacarpal bone dysplasia syndrome MONDO:0011005 trisomy 18-like syndrome trisomy 18-like syndrome MONDO:0011006 https://github.com/Orphanet/ORDO/issues/8 AD-SPG9A SPG9A autosomal dominant complex spastic paraplegia type 9A autosomal dominant spastic paraplegia 9A cataracts motor neuropathy-short stature-skeletal anomalies syndrome cataracts with motor neuronopathy, short stature and skeletal abnormalities hereditary spastic paraplegia type 9A spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux cataracts with motor neuronopathy, short stature, and skeletal abnormalities spastic paraparesis with amyopathy, cataracts, and gastroesophageal reflux spastic paraparesis with amyotrophy, cataracts, and gastroesophageal reflux spastic paraplegia 9A, autosomal dominant hereditary spastic paraplegia 9A MONDO:0011007 This syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated malformations. It has been reported only once in four successive foetuses (two females and two males) born to a nonconsanguineous couple. The spectrum of malformations is wide and includes, besides diaphragmatic hernia and hypoplastic lungs (present in the four foetuses), omphalocele (one case), severe limb hypoplasia (two cases), syndactyly of the toes (two cases), extra spleen (one case), and an ossification defect of the skull (one case). Inheritance seems either to be autosomal recessive or due to a gonadal mosaicism in one parent. Prenatal diagnosis of diaphragmatic hernia and severe lung hypoplasia detected on ultrasonography made the parents opt for termination of the four pregnancies. froster-Huch syndrome diaphragmatic defect limb deficiency skull defect diaphragmatic defects, limb deficiencies, and ossification defects of skull froster syndrome diaphragmatic defect-limb deficiency-skull defect syndrome https://rarediseases.info.nih.gov/diseases/2397/froster-huch-syndrome MONDO:0011008 Cleft lip/palate - intestinal malrotation - cardiopathy is a multiple congenital anomaly syndrome described in 5 patients to date, characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects which were lethal in 3 of the 5 patients reported. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs were reported in individual cases. There have been no further descriptions in the literature since 1997. McPherson-Clemens syndrome McPherson Clemens syndrome cleft LIP/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease cleft lip, cleft palate, characteristic facies, intestinal malrotation, and lethal congenital heart disease cleft lip/palate-intestinal malrotation-cardiopathy syndrome MONDO:0011009 muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers MONDO:0011010 Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia. MCOPS9 Matthew-Wood syndrome anophthalmia-pulmonary hypoplasia syndrome microphthalmia syndromic type 9 microphthalmia, syndromic type 9 syndromic microphthalmia type 9 Matthew Wood syndrome anophthalmia, clinical, with mild Facial Dysmorphism and variable malformations of the lung, heart, and diaphragm anophthalmia/microphthalmia and pulmonary hypoplasia clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations microphthalmia syndromic 9 microphthalmia, isolated, with coloboma 8 microphthalmia, syndromic 9 pulmonary Hypoplasia-diaphragmatic hernia-anophthalmia-Cardiac defect pulmonary agenesis microphthalmi and diaphragmatic defect pulmonary agenesis, microphthalmia, and diaphragmatic defect spear syndrome Matthew-Wood syndrome MONDO:0011011 Skeletal dysplasia-epilepsy-short stature syndrome is characterized by moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. It has been described in seven patients. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait. https://github.com/monarch-initiative/mondo/issues/5588 Gurrieri-Sammito-Bellussi syndrome GURRIERI syndrome intellectual disability, epilepsy, short stature and skeletal dysplasia mental retardation, epilepsy, short stature and skeletal dysplasia skeletal dysplasia-epilepsy-short stature syndrome MONDO:0011012 African iron overload is a rare disorder described in sub-Saharan African populations and is characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis. African iron overload Bantu siderosis iron overload in Africa hereditary iron overload and African Americans African iron overload MONDO:0011013 Any autosomal dominant hypocalcemia in which the cause of the disease is a mutation in the CASR gene. https://github.com/monarch-initiative/mondo/issues/4521 hypocalcemia, autosomal dominant CASR autosomal dominant hypocalcemia HYPOC1 autosomal dominant hypocalcemia caused by mutation in CASR autosomal dominant hypocalcemia type 1 hypocalcemia, autosomal dominant type 1 hypocalcemia, autosomal dominant, with Bartter syndrome hypercalciuric hypocalcemia hypocalcemia, autosomal dominant 1 hypocalcemia, autosomal dominant 1, with Bartter syndrome hypocalcemia, familial autosomal dominant hypocalcemia 1 MONDO:0011014 A malignant neoplasm affecting the lungs and/or the pleura. Pleuropulmonary blastoma is seen in children. Microscopically, the tumor may show features of chondrosarcoma, leiomyosarcoma, rhabdomyosarcoma, liposarcoma, or undifferentiated sarcoma. In approximately 25% of patients with pleuropulmonary blastoma, there are other lesions or neoplasms that may affect patients or their families, including lung or kidney cysts, and ovarian or testicular neoplasms. Heterozygous germline mutations in DICER1 gene have been identified in families harboring pleuropulmonary blastomas. childhood pulmonary blastoma pediatric pulmonary blastoma pleuropulmonary blastoma pleuropulmonary blastoma (morphologic abnormality) pulmonary blastoma of childhood PPB PPB familial tumor and dysplasia syndrome pleuropulmonary blastoma MONDO:0011015 A cataract that has material basis in variation in the region 17p13. CTRCT24 cataract 24 cataract type 24 CTAA2 anterior polar cataract 2 anterior polar cataract 24 cataract 24, anterior polar cataract, anterior polar, 2 cataract 24 MONDO:0011016 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 14q24.3-q31. https://github.com/monarch-initiative/mondo/issues/5033 IDDM11 insulin-dependent diabetes mellitus 11 diabetes mellitus, insulin-dependent, 11 type 1 diabetes mellitus 11 MONDO:0011017 A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma. KWWH type I NAXOS disease NXD Naxos disease keratoderma with woolly hair type I keratosis palmoplantaris with arrythmogenic cardiomyopathy palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy palmoplantar keratoderma with arrythmogenic cardiomyopathy Mal De Naxos cardiomyopathy, arrhythmogenic right ventricular, with skin, hair, and nail abnormalities keratosis palmoplantaris arrythmogenic cardiomyopathy woolly hair keratosis palmoplantaris with arrhythmogenic cardiomyopathy palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair woolly hair palmoplantar keratoderma cardiac abnormalities woolly hair, palmoplantar keratoderma, and Cardiac abnormalities Naxos disease https://rarediseases.info.nih.gov/diseases/9795/naxos-disease MONDO:0011018 An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition. https://github.com/monarch-initiative/mondo/issues/4948 DASS STHAG6 Verloes-Bourguignon syndrome dental anomalies and short stature platyspondyly with amelogenesis imperfecta platyspondyly-amelogenesis imperfecta syndrome selective tooth agenesis 5 tooth agenesis, selective, 6 Verloes Bourguignon syndrome amelogenesis imperfecta and platyspondyly skeletal dysplasia with amelogenesis imperfecta and platyspondyly tooth agenesis, selective, 6, formerly brachyolmia-amelogenesis imperfecta syndrome MONDO:0011019 This syndrome is characterized by the association of total alopecia (present at birth), mild intellectual deficit and hypergonadotropic hypogonadism. Devriendt-Vandenberghe-Fryns syndrome alopecia-intellectual disability syndrome with convulsions and hypergonadotropic hypogonadism alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome MONDO:0011020 Osteoporosis-oculocutaneous hypopigmentation syndrome is characterised by osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive. Hernández-Fragoso syndrome OOCHS OOCH OOCH syndrome osteoporosis and oculocutaneous hypopigmentation syndrome osteoporosis oculocutaneous hypopigmentation syndrome osteoporosis-oculocutaneous hypopigmentation syndrome https://rarediseases.info.nih.gov/diseases/404/osteoporosis-oculocutaneous-hypopigmentation-syndrome MONDO:0011021 NID B neuronal intestinal dysplasia, type B neuronal intestinal dysplasia, type B MONDO:0011022 Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2). 11p11.2 deletion Potocki-Shaffer syndrome proximal 11p deletion syndrome Defect11 syndrome PSS chromosome 11P11.2 deletion syndrome deletion of chromosome 11p11.2 proximal 11P deletion syndrome Potocki-Shaffer syndrome MONDO:0011023 Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated. HMPS hereditary mixed polyposis syndrome hereditary mixed polyposis syndrome MONDO:0011024 Dermatitis herpetiformis is a rare, chronic, skin disorder characterized by groups of severely itchy blisters and raised skin lesions. These are more common on the knees, elbows, buttocks and shoulder blades. The slow onset of symptoms usually begins during adulthood, but children can also be affected. Other symptoms mayinclude fluid-filled sores; red lesions that resemble hives; and itchiness, rednessand burning. The exact cause of this disease is not known,but it is frequently associated with the inability to digest gluten. People with this disease are typically treated with the drug dapsone. dermatitis herpetiformis, familial hereditary dermatitis herpetiformis Brocq-Duhring disease DH Duhring Brocq disease Duhring's disease dermatitis herpetiformis, familial https://rarediseases.info.nih.gov/diseases/1917/dermatitis-herpetiformis MONDO:0011025 Cerebellar ataxia, Cayman type is characterised by psychomotor retardation, hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia. https://github.com/monarch-initiative/mondo/issues/4521 Cayman ataxia Cayman cerebellar ataxia Cayman type cerebellar ataxia ataxia, cerebellar, Cayman type ATCAY cerebellar ataxia, CAYMAN type cerebellar ataxia, Cayman type Cayman type cerebellar ataxia MONDO:0011026 Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ABCA12 gene. https://github.com/monarch-initiative/mondo/issues/4069 ARCI4A ICR2B autosomal recessive congenital ichthyosis type 4A ichthyosis congenita IIB ichthyosis, congenital, autosomal recessive type 4A lamellar ichthyosis 2 LI2 ichthyosis congenita 2B ichthyosis lamellar 2 ichthyosis, congenital, autosomal recessive 4A ichthyosis, lamellar, 2 ichthyosis, lamellar, 2, formerly lamellar ichthyosis, type 2 autosomal recessive congenital ichthyosis 4A MONDO:0011027 https://github.com/monarch-initiative/mondo/issues/4521 diabetes mellitus, noninsulin-dependent 1 diabetes mellitus, noninsulin-dependent, 1 diabetes mellitus, noninsulin-dependent, type 1 NIDDM1 noninsulin-dependent diabetes mellitus 1 diabetes mellitus, noninsulin-dependent, 1 MONDO:0011028 Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal. https://github.com/monarch-initiative/mondo/issues/4521 delta-sarcoglycanopathy LGMD2F SGCD autosomal recessive limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCD limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency muscular dystrophy, limb-girdle, autosomal recessive 6 limb-girdle muscular dystrophy type 2F muscular dystrophy limb-girdle with delta-sarcoglyan deficiency muscular dystrophy, limb-girdle, type 2F autosomal recessive limb-girdle muscular dystrophy type 2F https://rarediseases.info.nih.gov/diseases/8573/limb-girdle-muscular-dystrophy-type-2f MONDO:0011029 myeloid tumor suppressor myeloid leukemia-related locus myeloid tumor suppressor MONDO:0011030 epithelial basolateral chloride conductance regulator, rabbit, homolog of Ebcr epithelial basolateral chloride conductance regulator, rabbit, homolog of MONDO:0011031 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the EYA4 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA10 EYA4 autosomal dominant nonsyndromic deafness autosomal dominant deafness 10 autosomal dominant nonsyndromic deafness 10 autosomal dominant nonsyndromic deafness caused by mutation in EYA4 autosomal dominant nonsyndromic deafness type 10 deafness, autosomal dominant 10 deafness, autosomal dominant type 10 autosomal dominant nonsyndromic hearing loss 10 MONDO:0011032 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA11 MYO7A autosomal dominant nonsyndromic deafness autosomal dominant deafness 11 autosomal dominant nonsyndromic deafness 11 autosomal dominant nonsyndromic deafness caused by mutation in MYO7A autosomal dominant nonsyndromic deafness type 11 deafness, autosomal dominant 11 deafness, autosomal dominant type 11 autosomal dominant nonsyndromic hearing loss 11 MONDO:0011033 A type 1 diabetes mellituss that has material basis in mutation of the locus at chromosome 2q34. https://github.com/monarch-initiative/mondo/issues/5033 IDDM13 insulin-dependent diabetes mellitus 13 diabetes mellitus, insulin-dependent, 13 type 1 diabetes mellitus 13 MONDO:0011034 Odontomicronychial dysplasia is a rare, hereditary ectodermal dysplasia syndrome characterized by involvement of teeth and nails - precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails. odontomicronychial dysplasia ectodermal dysplasia, nail/Tooth type odonto-micronychial dysplasia odontomicronychial dysplasia https://rarediseases.info.nih.gov/diseases/4053/odontomicronychial-dysplasia MONDO:0011035 A RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as cafC)-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when cafC)-au-lait spots are present in patients diagnosed with NS). https://github.com/monarch-initiative/mondo/issues/4374 https://github.com/monarch-initiative/mondo/issues/5682 NFNS neurofibromatosis type 1-Noonan syndrome neurofibromatosis-Noonan syndrome Noonan neurofibromatosis syndrome Noonan-neurofibromatosis syndrome neurofibromatosis with Noonan phenotype neurofibromatosis-Noonan syndrome https://rarediseases.info.nih.gov/diseases/372/neurofibromatosis-noonan-syndrome MONDO:0011036 Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterized by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed. Bonnemann-Meinecke syndrome Bonnemann Meinecke syndrome porencephaly cerebellar hypoplasia internal malformations porencephaly, cerebellar hypoplasia, and internal malformations porencephaly-cerebellar hypoplasia-internal malformations syndrome MONDO:0011037 https://github.com/monarch-initiative/mondo/issues/4882 renal dysplasia, cystic, susceptibility to CYSRD diffuse cystic renal dysplasia renal dysplasia diffuse cystic renal dysplasia, cystic, susceptibility to MONDO:0011038 Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements. CAPOS syndrome CAPOS cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome MONDO:0011039 atrophia maculosa varioliformis cutis, familial AMVC atrophia MACULOSA VARIOLIFORMIS cutis, familial varioliform macular atrophy of the skin atrophia maculosa varioliformis cutis, familial MONDO:0011040 spinal dysplasia, Anhalt type spinal dysplasia, Anhalt type MONDO:0011041 Ectodermal dysplasia with natal teeth, Turnpenny type is characterised by hypo- or oligodontia and acanthosis nigricans. It has been described in four generations of one family. Onset generally occurs during adolescence. Some patients were born with multiple teeth. Hair anomalies (sparse body and scalp hair) were also reported. Inheritance is autosomal dominant. ectodermal dysplasia with natal teeth, Turnpenny type ectodermal dysplasia with natal teeth Turnpenny type ectodermal dysplasia, hair/Tooth type ectodermal dysplasia with natal teeth, Turnpenny type https://rarediseases.info.nih.gov/diseases/10526/ectodermal-dysplasia-with-natal-teeth-turnpenny-type MONDO:0011042 Martinez-Frias syndrome Martínez-Frías syndrome pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula Martinez-Frias syndrome MONDO:0011043 myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay MONDO:0011044 ectrodactyly of lower limbs, congenital heart defect, and micrognathia ectrodactyly of lower limbs, congenital heart defect, and micrognathia MONDO:0011045 A congenital syndromic form of split-hand/foot malformation (SHFM). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies. https://github.com/monarch-initiative/mondo/issues/5588 MCOPS8 Viljoen-Smart syndrome microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome syndromic microphthalmia type 8 MMEP Viljoen Smart syndrome microcephaly microphthalmia ectrodactyly of lower limbs and prognathism microcephaly, microphthalmia, ectrodactyly of Lower limbs, and prognathism microphthalmia syndromic 8 microphthalmia, syndromic 8 MMEP syndrome MONDO:0011046 This syndrome is characterised by short stature presenting in the neonatal period associated with osteochondrodysplastic lesions and facial dysmorphism. Mievis-Verellen-Dumoulin syndrome Mievis Verellen-Dumoulin syndrome familial short stature with facial dysmorphism and osteochondrodysplastic lesions short stature syndrome, Brussels type short stature, Brussels type MONDO:0011047 This syndrome is characterised by sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit). chitty-Hall-Baraitser syndrome deafness, epiphyseal dysplasia, short stature deafness, femoral epiphyseal dysplasia, short stature and developmental delay growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction deafness-epiphyseal dysplasia-short stature syndrome MONDO:0011048 Epilepsy-microcephaly-skeletal dysplasia syndrome is characterized by the association of moderate to severe intellectual deficit, microcephaly, epilepsy, coarse face, hirsutism and skeletal abnormalities (scoliosis and retarded bone development). It has been described only once, in two sibs (one male and one female). This syndrome is likely to be an autosomal recessive condition and thus parents should be informed of a 25% risk of recurrence for other children. https://github.com/monarch-initiative/mondo/issues/5588 Battaglia-Neri syndrome epilepsy - microcephaly - skeletal dysplasia intellectual disability, microcephaly, epilepsy, and coarse face mental retardation, microcephaly, epilepsy, and coarse face epilepsy-microcephaly-skeletal dysplasia syndrome MONDO:0011049 A syndrome characterised by psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies. https://github.com/monarch-initiative/mondo/issues/5588 brachycephaly-deafness-cataract-intellectual disability syndrome fine-Lubinsky syndrome brachycephaly, deafness, cataract and intellectual disability brachycephaly, deafness, cataract and mental retardation brachycephaly, deafness, cataract, microstomia, and intellectual disability brachycephaly, deafness, cataract, microstomia, and mental retardation Fine-Lubinsky syndrome https://rarediseases.info.nih.gov/diseases/958/fine-lubinsky-syndrome MONDO:0011050 Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate. Ellis-Yale-Winter syndrome Ellis Yale Winter syndrome microcephaly, congenital heart disease, lung segmentation defects and unilateral renal agenesis microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs microcephaly-cardiac defect-lung malsegmentation syndrome MONDO:0011051 https://github.com/monarch-initiative/mondo/issues/4948 lethal short-limb skeletal dysplasia, Al Gazali type lethal neonatal short limb dwarfism lethal short limb skeletal dysplasia Al Gazali type lethal short-limb skeletal dysplasia, Al Gazali type https://rarediseases.info.nih.gov/diseases/4827/lethal-short-limb-skeletal-dysplasia-al-gazali-type MONDO:0011052 amelia cleft lip palate hydrocephalus iris coloboma ACLH bilateral brachial amelia, facial clefts, encephalocele, orbital cyst and omphalocele brachial AMELIA, cleft LIP, and holoprosencephaly brachial amelia, forebrain defects and facial clefts brachial amelia, forebrain defects, and Facial clefts amelia cleft lip palate hydrocephalus iris coloboma https://rarediseases.info.nih.gov/diseases/641/amelia-cleft-lip-palate-hydrocephalus-iris-coloboma MONDO:0011053 Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now. https://github.com/monarch-initiative/mondo/issues/3939 https://github.com/monarch-initiative/mondo/issues/5588 Nicolaides-Baraitser syndrome SMARCA2-related BAFopathy intellectual disability-sparse hair-brachydactyly syndrome NBs NCBRS NICOLAIDES-Baraitser syndrome sparse hair and intellectual disability sparse hair and mental retardation intellectual disability-sparse hair-brachydactyly syndrome MONDO:0011054 Autosomal recessive amelia is characterised by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three foetuses born to non consanguineous parents. https://github.com/monarch-initiative/mondo/issues/4521 Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome amelia, autosomal recessive autosomal recessive amelia MONDO:0011055 Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13. https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/4521 10p13-p14 Deletion syndrome DiGeorge syndrome type 2 DiGeorge syndrome/velocardiofacial syndrome Complex type 2 DiGeorge syndrome/velocardiofacial syndrome complex-2 distal 10p deletion distal monosomy type 10p monosomy 10pter telomeric deletion 10p 10p deletion 10p monosomy Dgs2 DiGeorge syndrome/velocardiofacial syndrome complex 2 chromosome 10p deletion deletion 10p monosomy 10p partial monosomy 10p distal monosomy 10p MONDO:0011056 https://github.com/monarch-initiative/mondo/issues/4521 Wilms tumor 4 Wilms tumor type 4 Wilms tumor, type 4 WT4 familial Wilms tumor 1 Wilms tumor 4 MONDO:0011057 A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction. cerebrovascular disease cerebrovascular disorder CVA CVA (cerebral vascular accident) cerebral infarction cerebrovascular accident stroke cerebrovascular disorder MONDO:0011058 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COCH gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 COCH autosomal dominant nonsyndromic deafness DFNA9 autosomal dominant deafness 9 autosomal dominant nonsyndromic deafness 9 autosomal dominant nonsyndromic deafness caused by mutation in COCH autosomal dominant nonsyndromic deafness type 9 deafness, autosomal dominant 9 deafness, autosomal dominant type 9 autosomal dominant nonsyndromic hearing loss 9 MONDO:0011059 Holoprosencephaly-craniosynostosis syndrome is a rare developmental defect during embryogenesis syndrome characterized by the association of primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay are additional common features. Camero-Lituania-Cohen syndrome Genoa syndrome Semilobar holoprosencephaly and primary craniosynostosis camera Lituania Cohen syndrome holoprosencephaly craniosynostosis holoprosencephaly, SEMILOBAR, with craniosynostosis holoprosencephaly-craniosynostosis syndrome MONDO:0011060 Early-onset non-syndromic cataract is a rare, genetic, non-syndromic developmental defect of the eye, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected. cataract, age-related nuclear nuclear sclerosis of the lens Not in the OMIM series. early-onset non-syndromic cataract MONDO:0011061 chorea, remitting, with nystagmus and cataract chorea, remitting with nystagmus and cataracts familial remitting chorea, nystagmus and cataracts chorea, remitting, with nystagmus and cataract MONDO:0011062 aprosencephaly and cerebellar dysgenesis aprosencephaly cerebellar dysgenesis MONDO:0011063 Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachicardia or sinus bradicardia. Christianson-Fourie syndrome ectodermal dysplasia, hidrotic, Christianson-Fourie type hidrotic ectodermal dysplasia, Christianson-Fourie type https://rarediseases.info.nih.gov/diseases/2682/ectodermal-dysplasia-hidrotic-christianson-fourie-type MONDO:0011064 chondrodysplasia, lethal, with long bone angulation and mixed bone density lethal chondrodysplasia seller type lethal chondrodysplasia, Seller type https://rarediseases.info.nih.gov/diseases/3226/lethal-chondrodysplasia-seller-type MONDO:0011065 Hunter-McAlpine craniosynostosis is characterised by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter). Hunter-McAlpine craniosynostosis syndrome Hunter-McAlpine syndrome craniosynostosis, mental deficiency, almond-shaped palpebral fissures, downturned mouth, mild acral-skeletal anomalies, and short stature Hunter-McAlpine craniosynostosis MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus). CMT4B1 Charcot-Marie-Tooth disease type 4 caused by mutation in MTMR2 Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth neuropathy type 4B1 MTMR2 Charcot-Marie-Tooth disease type 4 autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1 CMT 4B CMT 4B1 Charcot Marie Tooth disease type 4B1 Charcot-Marie-Tooth disease, autosomal recessive, with focally folded myelin sheaths, autosomal recessive, type 4B1 Charcot-Marie-Tooth disease, type 4B Charcot-Marie-Tooth disease, type 4B1 Charcot-Marie-Tooth neuropathy, type 4B1 Charcot-Marie-Tooth disease type 4B1 https://rarediseases.info.nih.gov/diseases/1253/charcot-marie-tooth-disease-type-4b1 MONDO:0011067 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the CDH23 gene on chromosome 10q22. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB12 autosomal recessive deafness 12 autosomal recessive nonsyndromic deafness 12 autosomal recessive nonsyndromic deafness type 12 deafness, autosomal recessive 12 deafness, autosomal recessive 12, modifier of deafness, autosomal recessive type 12 autosomal recessive nonsyndromic hearing loss 12 MONDO:0011068 Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the CTLA4 gene. https://github.com/monarch-initiative/mondo/issues/5033 CTLA4 type 1 diabetes mellitus IDDM12 diabetes mellitus, insulin-dependent, type 12 insulin-dependent diabetes mellitus 12 type 1 diabetes mellitus caused by mutation in CTLA4 diabetes mellitus, insulin-dependent, 12 type 1 diabetes mellitus 12 MONDO:0011069 cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction Frydman Cohen Ashkenazi syndrome cervical ribs, Sprengel anomaly, preaxial polydactyly, anal atresia, and urethral obstruction cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction https://rarediseases.info.nih.gov/diseases/1227/cervical-ribs-sprengel-anomaly-anal-atresia-and-urethral-obstruction MONDO:0011070 Any van Maldergem syndrome in which the cause of the disease is a mutation in the DCHS1 gene. DCHS1 van Maldergem syndrome Van Maldergem syndrome type 1 van Maldergem syndrome 1 van Maldergem syndrome caused by mutation in DCHS1 Cerebrofacioarticular syndrome VAN Maldergem syndrome 1 VMLDS1 van Maldergem syndrome 1 MONDO:0011071 The disorder is characterized by thrombocytopenia of varying severity and a predisposition to hematologic malignancies. It may be caused due to germ line variations in the RUNX1, ETV6 or ANKRD26 genes. hereditary thrombocytopenia and hematologic cancer predisposition syndrome hereditary thrombocytopenia and hematologic cancer predisposition syndrome MONDO:0011072 NIDDM2 diabetes mellitus, noninsulin-dependent, 2 noninsulin-dependent diabetes mellitus 2 diabetes mellitus, noninsulin-dependent, 2 MONDO:0011073 https://github.com/monarch-initiative/mondo/issues/4521 diabetes mellitus, transient neonatal 1 diabetes mellitus, transient neonatal, 1 diabetes mellitus, transient neonatal, type 1 Dmtn Tndm Tndm1 diabetes mellitus, transient neonatal, 1 MONDO:0011074 An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has material basis in variation in the chromosome region 1q21-q23. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA7 autosomal dominant deafness 7 autosomal dominant nonsyndromic deafness 7 autosomal dominant nonsyndromic deafness type 7 deafness, autosomal dominant 7 autosomal dominant nonsyndromic hearing loss 7 MONDO:0011075 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF3 gene. PRPF3 retinitis pigmentosa RP18 retinitis pigmentosa 18 retinitis pigmentosa caused by mutation in PRPF3 retinitis pigmentosa type 18 RP 18 retinitis pigmentosa 18 https://rarediseases.info.nih.gov/diseases/10392/retinitis-pigmentosa-18 MONDO:0011076 A rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure. https://github.com/monarch-initiative/mondo/issues/4370 DES autosomal recessive limb-girdle muscular dystrophy DES myofibrillar myopathy (disease) autosomal recessive limb-girdle muscular dystrophy caused by mutation in DES autosomal recessive limb-girdle muscular dystrophy type 2R desmin-related myofibrillar myopathy desminopathy myofibrillar myopathy (disease) caused by mutation in DES myofibrillar myopathy 1 myofibrillar myopathy type 1 myopathy, myofibrillar, type 1 CMD1F and LGMD1D CMD1F and LGMD1D, formerly IBM1 MFM1 arrhythmogenic right ventricular cardiomyopathy 7 arrhythmogenic right ventricular cardiomyopathy 7, formerly arrhythmogenic right ventricular dysplasia, familial, 7 arrhythmogenic right ventricular dysplasia, familial, 7, formerly cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D, formerly cardiomyopathy, dilated, with conduction defect and muscular dystrophy desmin-related myopathy desmin-related myopathy with arrhythmogenic right ventricular cardiomyopathy desminopathy, primary inclusion body myopathy 1, autosomal dominant inclusion body myopathy 1, autosomal dominant, formerly myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy myopathy, myofibrillar, 1 myopathy, myofibrillar, desmin-related myofibrillar myopathy 1 MONDO:0011077 microcephaly, corpus callosum dysgenesis, and cleft lip/palate corpus callosum dysgenesis, microcephaly, infantile spasm, cleft lip-palate, exophthalmos and psychomotor retardation microcephaly, corpus callosum dysgenesis and cleft lip-palate microcephaly, facial clefting, and preaxial polydactyly microcephaly, corpus callosum dysgenesis, and cleft lip/palate https://rarediseases.info.nih.gov/diseases/3614/microcephaly-corpus-callosum-dysgenesis-and-cleft-lip-palate MONDO:0011078 A rare, congenital malformation syndrome characterized by the association of anterior ocular chamber cleavage disorder with developmental delay, short stature and congenital hypothyroidism. Additional manifestations include cerebellar hypoplasia, tracheal stenosis, narrow external auditory meatus, and hip dislocation. There have been no further description in the literature since 1995. anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis Jung Wolff back Stahl syndrome anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis MONDO:0011079 Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachimetacarpalia. rhizomelic dysplasia, Patterson-Lowry type Patterson Lowry syndrome Patterson-Lowry rhizomelic dysplasia rhizomelic dysplasia Patterson Lowry type rhizomelic dysplasia, Patterson-Lowry type https://rarediseases.info.nih.gov/diseases/4703/rhizomelic-dysplasia-patterson-lowry-type MONDO:0011080 Stapes fixation (stapedovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis, but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease). Stapedo-vestibular ankylosis Thies-Reis syndrome Thies Reis syndrome deafness, progressive, with stapes fixation progressive deafness with stapes fixation https://rarediseases.info.nih.gov/diseases/5170/progressive-deafness-with-stapes-fixation MONDO:0011081 Dislocation of the hip-dysmorphism syndrome is a rare multiple congenital anomalies syndrome characterized by bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensibility. Congenital heart defects, congenital dislocation of the knee, congenital inguinal hernia, and vesicoureteric reflux have also been reported. There have been no further descriptions in the literature since 1995. Collins-Pope syndrome Collins Pope syndrome dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism dislocation of the hip dysmorphism hip, congenital dislocation of, with hyperextensibility of fingers and Facial Dysmorphism dislocation of the hip-dysmorphism syndrome https://rarediseases.info.nih.gov/diseases/1428/collins-pope-syndrome MONDO:0011082 OAFNS oculoauriculofrontonasal syndrome OCULOAURICULOFRONTONASAL syndrome oculoauriculofrontonasal dysplasia oculoauriculofrontonasal syndrome https://rarediseases.info.nih.gov/diseases/4031/oculoauriculofrontonasal-syndrome MONDO:0011083 Trichodental syndrome is characterised by the association of fine, dry and short hair with dental anomalies. It has been described in less than 10 families. The mode of transmission is autosomal dominant. kersey syndrome TRICHODENTAL dysplasia Tricho-dental dysplasia Tricho-dental syndrome trichodental syndrome https://rarediseases.info.nih.gov/diseases/265/trichodental-syndrome MONDO:0011084 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 PSORS3 psoriasis 3, susceptibility to psoriasis susceptibility 3 psoriasis 3, susceptibility to MONDO:0011085 Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported. CMT4D Charcot-Marie-Tooth disease type 4 caused by mutation in NDRG1 Charcot-Marie-Tooth disease type 4D Charcot-Marie-Tooth neuropathy type 4D HMSN Lom type HMSN, Lom type HMSN-Lom HMSN4D HMSNL NDRG1 Charcot-Marie-Tooth disease type 4 autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D hereditary motor ABD sensory neuropathy Lom type hereditary motor and sensory neuropathy, Lom type Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4D Charcot-Marie-Tooth disease, type 4D Charcot-Marie-Tooth neuropathy, type 4D NMSL neuropathy, hereditary motor and sensory, Lom type Charcot-Marie-Tooth disease type 4D https://rarediseases.info.nih.gov/diseases/3973/charcot-marie-tooth-disease-type-4d MONDO:0011086 A rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia. https://github.com/monarch-initiative/mondo/issues/4521 SCID due to complete RAG1-2 deficiency SCID due to complete RAG1/2 deficiency severe combined immunodeficiency due to complete RAG1-2 deficiency severe combined immunodeficiency, B cell-negative severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive SCID, AR, T-cell negative, B-cell negative, NK cell-positive SCID, T cell-negative, B cell-negative, NK cell-positive severe combined immunodeficiency due to complete RAG1/2 deficiency severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive MONDO:0011087 An inflammatory bowel disease that has material basis in variation in the chromosome region 12p13.2-q24.1. IBD2 inflammatory bowel disease 2 inflammatory bowel disease type 2 inflammatory bowel disease 2 MONDO:0011088 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the CHRNA1 gene. CHRNA1 congenital myasthenic syndrome CMS IIa CMS1A congenital myasthenic syndrome 1A, slow-channel congenital myasthenic syndrome caused by mutation in CHRNA1 congenital myasthenic syndrome type 1A congenital myasthenic syndrome type IIa Cms IIa Cms IIa, formerly myasthenic syndrome, congenital, 1A, slow-channel myasthenic syndrome, congenital, type IIa myasthenic syndrome, congenital, type IIa, formerly congenital myasthenic syndrome 1A MONDO:0011089 patent ductus venosus PDV PSVS portosystemic Venous shunt, congenital patent ductus venosus https://rarediseases.info.nih.gov/diseases/10483/patent-ductus-venosus MONDO:0011090 Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal. https://github.com/monarch-initiative/mondo/issues/4069 HCFP MBS2 (formerly) Mobius syndrome 2 (formerly) Moebius syndrome 2 (formerly) facial palsy, congenital, unilateral or bilateral facial paresis hereditary congenital facial paresis, hereditary congenital hereditary congenital facial paresis isolated hereditary congenital facial paralysis https://rarediseases.info.nih.gov/diseases/8583/hereditary-congenital-facial-paresis MONDO:0011091 Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow. https://github.com/monarch-initiative/mondo/issues/4521 CMT2D Charcot-Marie-Tooth disease neuronal type 2D Charcot-Marie-Tooth disease type 2 caused by mutation in GARS Charcot-Marie-Tooth disease, type 2D Charcot-Marie-Tooth neuropathy type 2D GARS Charcot-Marie-Tooth disease type 2 autosomal dominant Charcot-Marie-Tooth disease type 2D CMT 2D Charcot Marie Tooth disease type 2D Charcot-Marie-Tooth disease, axonal, type 2D Charcot-Marie-Tooth disease, neuronal, type 2D Charcot-Marie-Tooth neuropathy, type 2D Charcot-Marie-Tooth disease type 2D https://rarediseases.info.nih.gov/diseases/1251/charcot-marie-tooth-disease-type-2d MONDO:0011092 Ribbing disease is a rare bone disease that causes bony growths on the long bones, such as the thigh bone and shine bone.Ribbing diseaseaffects women more frequently than men. The most common symptom is pain. A single studyof 14 patients found an association between Ribbing disease and impaired exercise tolerance and changes in heart function (i.e., increased prevalence of arrhythmia and changes in left ventricular systolic and diastolic function).The cause of the condition iscurrently unknown, although some cases appear to be genetic and inherited in an autosomal recessive fashion.Optimal treatment for the disease is largely unknown. There have been case reports describingtreatment of Ribbing diseasewith bisphosphonate pamidronate. Results have been mixed. The conditionoften resolves on its own; howevercases of progressive disease have been described. ribbing disease diaphyseal sclerosis, multiple hereditary multiple diaphyseal sclerosis multiple diaphyseal sclerosis ribbing disease https://rarediseases.info.nih.gov/diseases/8494/ribbing-disease MONDO:0011093 An autosomal recessive lysosomal storage disease caused by mutation(s) in the HYAL1 gene, encoding hyaluronidase-1. It is characterized by short stature and hyaluronidase deficiency. MPS9 MPSIX mucopolysaccharidosis type 9 mucopolysaccharidosis type IX MPS 9 hyaluronidase deficiency mucopolysaccharidosis IX mucopolysaccharidosis, type 9 mucopolysaccharidosis, type IX mucopolysaccharidosis type 9 MONDO:0011094 A dilated cardiomyopathy that has material basis in mutation in the LDB3 gene on chromosome 10q23.2. https://github.com/monarch-initiative/mondo/issues/4521 CMDC1 cardiomyopathy, dilated, 1C, with or without LVNC cardiomyopathy, hypertrophic, 24 dilated cardiomyopathy 1C with or without left ventricular noncompaction dilated cardiomyopathy type 1C CMD1C cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction cardiomyopathy, familial hypertrophic, 24 left ventricular noncompaction 3 dilated cardiomyopathy 1C MONDO:0011095 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene. CMD1D TNNT2 familial isolated dilated cardiomyopathy cardiomyopathy, dilated, type 1D dilated cardiomyopathy 1D dilated cardiomyopathy type 1D familial isolated dilated cardiomyopathy caused by mutation in TNNT2 cardiomyopathy, dilated, 1D left ventricular noncompaction 6 dilated cardiomyopathy 1D MONDO:0011096 Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea. AGM agammaglobulinemia, non-Bruton type agammaglobulinemia, autosomal recessive, due to IGHM defect autosomal agammaglobulinemia MONDO:0011097 An Axenfeld-Rieger syndrome that has material basis in deletions in the region 13q14. RIEG2 Rieger syndrome type 2 Axenfeld-Rieger syndrome, type 2 Rieger syndrome, type 2 Axenfeld-Rieger syndrome type 2 MONDO:0011098 Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene. https://github.com/monarch-initiative/mondo/issues/4521 RNASEL familial prostate cancer familial prostate cancer caused by mutation in RNASEL prostate cancer 1 prostate cancer, hereditary, 1 prostate cancer, hereditary, type 1 HPC1 Prca1 prostate cancer, hereditary, 1 MONDO:0011099 Human HOXA1 syndromes is characterised by deafness, central hypoventilation, congenital ocular paralysis and developmental retardation. Cardiac anomalies and paralysis of the vocal chords may also be present. Six cases have been reported so far. Transmission is thought to be autosomal recessive. https://github.com/monarch-initiative/mondo/issues/1377 ABSD Athabascan brainstem dysgenesis syndrome Athabaskan brainstem dysgenesis syndrome Navajo brainstem syndrome ABDS Athabaskan brainstem dysgenesis BSAS Bosley Salih Alorainy syndrome Bosley-Salih-Alorainy syndrome Human HOXA1 syndromes human HOXA1 syndromes MONDO:0011100 microcephaly, retinitis pigmentosa, and sutural cataract microcephaly, retinitis pigmentosa, and sutural cataract MONDO:0011101 https://github.com/monarch-initiative/mondo/issues/2632 https://github.com/monarch-initiative/mondo/issues/4521 peroxisome biogenesis disorder 1B peroxisome biogenesis disorder 1B (NALD/IRD) peroxisome biogenesis disorder type 1B PBD1B Refsum disease, infantile adrenoleukodystrophy, autosomal neonatal infantile phytanic acid storage disease peroxisome biogenesis disorder (NALD/Ird) peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile Refsum disease) peroxisome biogenesis disorder 1B MONDO:0011102 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA12 DFNA8 TECTA autosomal dominant nonsyndromic deafness autosomal dominant deafness 12 autosomal dominant deafness 8 autosomal dominant nonsyndromic deafness 12 autosomal dominant nonsyndromic deafness caused by mutation in TECTA autosomal dominant nonsyndromic deafness type 12 deafness, autosomal dominant 12 deafness, autosomal dominant 8 deafness, autosomal dominant 8/12 deafness, autosomal dominant type 12 autosomal dominant nonsyndromic hearing loss 12 MONDO:0011103 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB2 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA3 DFNA3A GJB2 autosomal dominant nonsyndromic deafness NSRD1 autosomal dominant deafness 3A autosomal dominant nonsyndromic deafness 3A autosomal dominant nonsyndromic deafness caused by mutation in GJB2 autosomal dominant nonsyndromic deafness type 3A deafness, autosomal dominant 3A deafness, autosomal dominant 3a deafness, autosomal dominant nonsyndromic sensorineural 3 deafness, autosomal dominant type 3A neurosensory nonsyndromic dominant deafness 1 Editor note: consider adding grouping for 3A/3B autosomal dominant nonsyndromic hearing loss 3A MONDO:0011104 Any cataract (disease) in which the cause of the disease is a mutation in the CRYBB2 gene. CRYBB2 cataract (disease) CTRCT3 cataract (disease) caused by mutation in CRYBB2 cataract 3 multiple types with or without microcornea CCA2 congenital cerulean type cataract 2 cataract 3, multiple types cataract 3, multiple types, with or without microcornea cataract, congenital, cerulean type, 2 cataract 3 multiple types MONDO:0011105 https://github.com/monarch-initiative/mondo/issues/4069 alacrima, congenital, autosomal recessive alacrima, congenital, autosomal recessive MONDO:0011106 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs. FDLAB syndrome Traboulsi syndrome facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome FDLAB ectopia lentis, spontaneous filtering blebs, and craniofacial Dysmorphism facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome MONDO:0011107 A very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. https://github.com/monarch-initiative/mondo/issues/4069 HJMD Hjmd hypotrichosis with cone-rod dystrophy hypotrichosis with juvenile macular dystrophy hypotrichosis with juvenile macular degeneration hypotrichosis, congenital, with juvenile macular dystrophy juvenile macular degeneration and hypotrichosis juvenile macular dystrophy and congenital hypotrichosis congenital hypotrichosis with juvenile macular dystrophy MONDO:0011109 Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus. multiple epiphyseal dysplasia with Robin phenotype epiphyseal dysplasia, multiple, with Robin phenotype multiple epiphyseal dysplasia with ROBIN phenotype multiple epiphyseal dysplasia, Lowry type MONDO:0011110 This syndrome is characterised by Kniest dysplasia, spine abnormalities and severe dwarfism. Glaucoma has also been reported. The syndrome has been described in two unrelated children. dyssegmental dysplasia and glaucoma dyssegmental dysplasia with glaucoma dyssegmental dysplasia-glaucoma syndrome https://rarediseases.info.nih.gov/diseases/2025/dyssegmental-dysplasia-and-glaucoma MONDO:0011112 Any Wilms tumor in which the cause of the disease is a mutation in the POU6F2 gene. https://github.com/monarch-initiative/mondo/issues/4521 Wilms tumor 5 Wilms tumor susceptibility-5, autosomal dominant, somatic mutation Wilms tumor type 5 WT5 Wilms tumor and radial bilateral aplasia Wilms tumor, susceptibility to bilateral radial aplasia with Wilms tumor Wilms tumor 5 MONDO:0011113 Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported. CMT4C Charcot-Marie-Tooth disease type 4 caused by mutation in SH3TC2 Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth neuropathy type 4C SH3TC2 Charcot-Marie-Tooth disease type 4 autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C CMT 4C Charcot Marie Tooth disease type 4C Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4C Charcot-Marie-Tooth disease, type 4C Charcot-Marie-Tooth neuropathy, type 4C Charcot-Marie-Tooth disease type 4C https://rarediseases.info.nih.gov/diseases/9201/charcot-marie-tooth-disease-type-4c MONDO:0011114 Brooke-Fordyce Trichoepitheliomas epithelioma Adenoides Cysticum of Brooke epithelioma adenoides cysticum epithelioma, hereditary multiple benign cystic hereditary multiple benign cystic epithelioma multiple familial trichoepithelioma trichoepithelioma multiple familial familial multiple trichoepithelioma MONDO:0011115 spastic paraplegia and Evans syndrome spastic paraplegia and Evans syndrome MONDO:0011116 Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies. Mardini-Nyhan syndrome LACHT Manouvrier syndrome Mardini-Nyhan association lung agenesis heart defect thumb anomalies lung agenesis, congenital heart defects, and thumb anomalies syndrome pulmonary aplasia and triphalangia of the thumb lung agenesis-heart defect-thumb anomalies syndrome https://rarediseases.info.nih.gov/diseases/3378/manouvrier-syndrome MONDO:0011117 iris pigment epithelium anomalies cysts of iris pigment epithelium ruffles and cysts of iris pigment epithelium iris pigment epithelium anomalies MONDO:0011118 An acute leukemia of ambiguous lineage in which there is a dual population of blasts with each population expressing markers of a distinct lineage (myeloid and lymphoid or B-and T-lymphocyte). (WHO, 2001) -- 2003 acute bilineal leukemia bilineal acute leukemia bilineal acute myeloid leukemia MONDO:0011119 IRID Editor note: see https://github.com/monarch-initiative/mondo/issues/203; this groups IRID1 and IRID2 iridogoniodysgenesis MONDO:0011120 https://github.com/monarch-initiative/mondo/issues/4521 neural tube defects, folate-sensitive NTD, folate-sensitive NTDFS neural tube defects, folate-sensitive, susceptibility to neural tube defects, susceptibility to spina bifida, folate-sensitive neural tube defects, folate-sensitive MONDO:0011121 Any paraganglioma in which the cause of the disease is a mutation in the SDHAF2 gene. SDHAF2 paraganglioma paraganglioma caused by mutation in SDHAF2 paragangliomas 2 paragangliomas type 2 PGL2 SDHAF2-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 2) glomus tumors, familial, 2 paragangliomas 2 https://rarediseases.info.nih.gov/diseases/10544/paragangliomas-2 MONDO:0011122 A disorder involving an excessive amount of body fat. obesity obesity disease Obesity is a complex disease that may involve multiple environmental and genetic causes. See the subclass monogenic disease for genetic subtypes obesity disorder MONDO:0011123 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 6q21. https://github.com/monarch-initiative/mondo/issues/5033 IDDM15 insulin-dependent diabetes mellitus 15 diabetes mellitus, insulin-dependent, 15 type 1 diabetes mellitus 15 MONDO:0011124 A rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. https://github.com/monarch-initiative/mondo/issues/5280 SEMDAD spondyloepimetaphyseal dysplasia with abnormal dentition spondyloepimetaphyseal dysplasia-abnormal dentition syndrome MONDO:0011125 PIBIDS syndrome trichothiodystrophy 1, photosensitive TTD1 Tay syndrome ichthyosiform erythroderma with hair Abnormality and mental and Growth retardation trichothiodystrophy with congenital ichthyosis trichothiodystrophy, photosensitive trichothiodystrophy 1, photosensitive MONDO:0011126 acute insulin response Air acute insulin response MONDO:0011128 Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. DA2B Freeman-Sheldon syndrome variant Sheldon-Hall syndrome arthrogryposis, distal, type 2B distal arthrogryposis type 2B Freeman Sheldon syndrome, variant Freeman Sheldon variant arthrogryposis multiplex congenita distal type 2B arthrogryposis multiplex congenita distal type II with craniofacial abnormalities arthrogryposis multiplex congenita, distal, type 2B arthrogryposis multiplex congenita, distal, type II, with craniofacial abnormalities Sheldon-hall syndrome MONDO:0011129 https://github.com/monarch-initiative/mondo/issues/4521 glaucoma 1C, primary open angle GLC1C glaucoma 1, primary open angle, C glaucoma type 1C https://rarediseases.info.nih.gov/diseases/2484/glaucoma-type-1c MONDO:0011130 sebaceous gland hyperplasia, familial presenile sebaceous gland hyperplasia, familial presenile https://rarediseases.info.nih.gov/diseases/10031/sebaceous-gland-hyperplasia-familial-presenile MONDO:0011131 Alves-dos Santos-Castelo syndrome ectodermal dysplasia-cataracts-kyphoscoliosis syndrome Alves syndrome Todv syndrome Trichooculodermovertebral syndrome arthrogryposis and ectodermal dysplasia ectodermal dysplasia - cataracts - kyphoscoliosis tricho-oculo-dermo-vertebral syndrome MONDO:0011132 A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has material basis in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12. https://github.com/monarch-initiative/mondo/issues/4069 FOXN1 deficiency T-cell immunodeficiency, congenital alopecia, and nail dystrophy alopecia immunodeficiency alymphoid cystic thymic dysgenesis severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome winged helix deficiency Pignata Guarino syndrome T-cell immunodeficiency, congenital alopecia and nail dystrophy congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency T-cell immunodeficiency, congenital alopecia, and nail dystrophy https://rarediseases.info.nih.gov/diseases/4358/t-cell-immunodeficiency-congenital-alopecia-and-nail-dystrophy MONDO:0011133 Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss. Warburg-Thomsen syndrome Yemenite deaf-blind hypopigmentation syndrome Warburg Thomsen syndrome Yemenite (Warburg) deaf-blind hypopigmentation syndrome deaf blind hypopigmentation syndrome, Yemenite type MONDO:0011134 Curry-Jones syndrome is a form of syndromic craniosynostosis, characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported. https://github.com/monarch-initiative/mondo/issues/4521 Curry-Jones syndrome, somatic mosaic corpus callosum agenesis-polysyndactyly syndrome curry-Jones syndrome CRJS corpus callosum agenesis polysyndactyly craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development curry Jones syndrome curry-JONES syndrome Curry-Jones syndrome https://rarediseases.info.nih.gov/diseases/5584/curry-jones-syndrome MONDO:0011135 superior transverse scapular ligament, calcification of, familial superior transverse scapular ligament, calcification of, familial MONDO:0011136 Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds. BDPLT5 Quebec platelet disorder factor V Quebec platelet-type bleeding disorder 5 QPD bleeding disorder, platelet-type, 5 factor 5 Quebec Quebec platelet disorder https://rarediseases.info.nih.gov/diseases/8345/quebec-platelet-disorder MONDO:0011137 Any retinitis pigmentosa in which the cause of the disease is a mutation in the ABCA4 gene. https://github.com/monarch-initiative/mondo/issues/5693 ABCA4 retinitis pigmentosa RP19 retinitis pigmentosa 19 retinitis pigmentosa caused by mutation in ABCA4 retinitis pigmentosa type 19 RP 19 retinitis pigmentosa 19 https://rarediseases.info.nih.gov/diseases/10398/retinitis-pigmentosa-19 MONDO:0011138 Any systemic lupus erythematosus in which the cause of the disease is a mutation in the TLR5 gene. https://github.com/monarch-initiative/mondo/issues/4521 SLEB1 TLR5 systemic lupus erythematosus (disease) susceptibility to systemic lupus erythematosus 1 systemic lupus erythematosus (disease) caused by mutation in TLR5 systemic lupus erythematosus, resistance to systemic lupus erythematosus, resistance to, 1 systemic lupus erythematosus, susceptibility to, 1 systemic lupus erythematosus, susceptibility to, type 1 systemic lupus erythematosus, susceptibility to, 1 MONDO:0011139 preaxial hallucal polydactyly preaxial hallucal polydactyly MONDO:0011141 https://github.com/monarch-initiative/mondo/issues/4170 MEGAF folate level in erythrocytes megaloblastic anemia, folate-responsive MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations. https://github.com/monarch-initiative/mondo/issues/5682 ATCS CHST14-related EDS CHST14-related Ehlers-Danlos syndrome D4ST1-deficient EDS D4ST1-deficient Ehlers-Danlos syndrome EDS, Kosho type EDS, arthrogryposic type EDS, musculocontractural type Ehlers-Danlos syndrome, Kosho type Ehlers-Danlos syndrome, arthrogryposic type MCEDS adducted thumb-clubfoot syndrome adducted thumbs-arthrogryposis syndrome, Dundar type musculocontractural Ehlers-Danlos syndrome Dundar syndrome EDS6B, formerly EDSMC EDSMC1 EDSmc Ehlers-Danlos syndrome, musculocontractural type 1 Ehlers-Danlos syndrome, musculocontractural type, 1 Ehlers-Danlos syndrome, type VIB, formerly Ehlers-Danlos syndrome, type Vib Ehlers-Danlos syndrome, type Vib, formerly adducted thumb clubfoot syndrome adducted thumb, clubfoot, and progressive joint and skin laxity syndrome adducted thumb-club foot syndrome adducted thumbs Dundar type arthrogryposis, distal, with peculiar facies and hydronephrosis autosomal recessive adducted thumb-club foot syndrome musculocontractural EDS Ehlers-Danlos syndrome, musculocontractural type https://rarediseases.info.nih.gov/diseases/545/adducted-thumbs-dundar-type MONDO:0011143 Any cone-rod dystrophy in which the cause of the disease is a mutation in the GUCY2D gene. CORD6 GUCY2D cone-rod dystrophy RCD2 cone-rod dystrophy 6 cone-rod dystrophy caused by mutation in GUCY2D cone-rod dystrophy type 6 retinal cone dystrophy 2 cone-rod dystrophy 6 MONDO:0011144 A rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 18 months and 8 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (loss of previously acquired skills). It occurs predominantly in people of Portuguese, Indian, Pakistani, or Czech ancestry. CLN6-NCL is caused by changes (mutations) in the CLN6 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms. CLN6 CLN6 late infantile neuronal ceroid lipofuscinosis CLN6A ceroid lipofuscinosis, neuronal, type 6 late infantile neuronal ceroid lipofuscinosis caused by mutation in CLN6 neuronal ceroid lipofuscinosis 6 neuronal ceroid lipofuscinosis 6 variable age of onset neuronal ceroid lipofuscinosis type 6 neuronal ceroid lipofuscinosis, late infantile, variant vLINCL CLN6 disease CLN6 disease, adult Kufs type A (subtype) CLN6 disease, late infantile (subtype) ceroid lipofuscinosis, neuronal, 6 ceroid lipofuscinosis, neuronal, 6, variable age at onset neuronal ceroid lipofuscinosis, Gypsy/Indian early juvenile variant ceroid lipofuscinosis, neuronal, 6A https://rarediseases.info.nih.gov/diseases/1224/neuronal-ceroid-lipofuscinosis-6 MONDO:0011145 coloboma-obesity-hypogenitalism-intellectual disability syndrome coloboma-obesity-hypogenitalism-mental retardation syndrome colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome MONDO:0011146 Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p. https://github.com/monarch-initiative/mondo/issues/3492 https://github.com/monarch-initiative/mondo/issues/4521 Isochromosome 12p mosaicism Isochromosome 12p syndrome Pallister-Killian syndrome Pallister-Killian syndrome, Somatic mosaicism tetrasomy type 12p Hexasomy 12P, Mosaic Isochromosome 12P syndrome Killian Teschler-Nicola syndrome Killian syndrome PKS Pallister Killian syndrome Pallister mosaic syndrome Pallister-Killian mosaic syndrome Teschler-Nicola Killian syndrome chromosome 12, Isochromosome 12p syndrome tetrasomy 12P, Mosaic tetrasomy 12p MONDO:0011147 A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts. https://github.com/monarch-initiative/mondo/issues/3664 18Q syndrome 18q deletion syndrome 18q-syndrome chromosome 18q deletion syndrome deletion 18q deletion 18q syndrome monosomy 18q monosomy type 18q partial deletion of chromosome 18q partial deletion of the long arm of chromosome 18 partial deletion of the long arm of chromosome type 18 partial monosomy of chromosome 18q partial monosomy of the long arm of chromosome 18 proximal 18q deletion proximal 18q deletion syndrome proximal 18q- proximal chromosome 18q deletion syndrome 18Q- syndrome chromosome 18Q- syndrome chromosome 18q deletion monosomy 18q syndrome chromosome 18q deletion syndrome MONDO:0011148 Spondylospinal thoracic dysostosis is an extremely rare skeletal disorder characterized bya short, curved spine and fusion of the spinous processes, short thorax with 'crab-like' configuration of the ribs, underdevelopment of the lungs (pulmonary hypoplasia), severe arthrogryposis and multiple pterygia (webbing of the skin across joints), and underdevelopment of the bones of the mouth.This condition is believed to be inherited in an autosomal recessive manner.It does notappear to be compatible with life. spondylospinal thoracic dysostosis Spondylospinal thoracic dysostosis https://rarediseases.info.nih.gov/diseases/10571/spondylospinal-thoracic-dysostosis MONDO:0011149 premature aging syndrome, Okamoto type premature aging Okamoto type premature aging syndrome with osteosarcoma cataracts diabetes osteoporosis erythroid macrocytosis severe developmental delay premature aging syndrome, Okamoto type MONDO:0011150 premature aging syndrome, Penttinen type PENTT Penttinen-aula syndrome premature aging syndrome Penttinen type prematurely aged appearance, delayed bone maturation, acro-osteolysis, and brachydactyly progeroid syndrome, Penttinen type acroosteolysis-keloid-like lesions-premature aging syndrome MONDO:0011151 exudative vitreoretinopathy 4 exudative vitreoretinopathy type 4 EVR4 exudative vitreoretinopathy 4 MONDO:0011152 3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form https://github.com/monarch-initiative/mondo/issues/5588 PHGDH deficiency PHOSPHOGLYCERATE dehydrogenase deficiency 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form PHGDHD PHGDH deficiency MONDO:0011153 Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the KCNJ11 gene. KCNJ11 hyperinsulinemic hypoglycemia (disease) hyperinsulinemic hypoglycemia (disease) caused by mutation in KCNJ11 hyperinsulinemic hypoglycemia due to Kir6.2 deficiency hyperinsulinemic hypoglycemia, familial, 2 hyperinsulinemic hypoglycemia, familial, type 2 HHF2 hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia hyperinsulinemic hypoglycemia familial 2 hyperinsulinemic hypoglycemia, persistent hyperinsulinism, congenital hyperinsulinism, familial hyperinsulinism, neonatal nesidioblastosis persistent hyperinsulinemic hypoglycemia of infancy hyperinsulinemic hypoglycemia, familial, 2 https://rarediseases.info.nih.gov/diseases/9927/hyperinsulinemic-hypoglycemia-familial-2 MONDO:0011154 Acrofacial dysostosis, Palagonia type is a very rare form of acrofacial dysostosis, reported in four members of a family from the Sicilian village of Palagonia, characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997. Palagonia type of acrofacial dysostosis acrofacial dysostosis, Palagonia type acrofacial dysostosis, Patagonia type AFD- Palagonia type PAFD Palagonia form of AFD acrofacial dysostosis Palagonia type acrofacial dysostosis, Palagonia type MONDO:0011155 https://github.com/monarch-initiative/mondo/issues/4521 muscular dystrophy with rimmed vacuoles vacuolar Neuromyopathy muscular dystrophy, autosomal dominant, with rimmed vacuoles vacuolar Neuromyopathy MONDO:0011156 Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome. https://github.com/monarch-initiative/mondo/issues/4521 ABCB11 progressive familial intrahepatic cholestasis BSEP deficiency PFIC2 cholestasis, progressive familial intrahepatic 2 cholestasis, progressive familial intrahepatic, type 2 progressive familial intrahepatic cholestasis caused by mutation in ABCB11 progressive familial intrahepatic cholestasis type 2 cholestasis, progressive familial intrahepatic, 2 severe ABCB11 deficiency progressive familial intrahepatic cholestasis type 2 https://rarediseases.info.nih.gov/diseases/1288/progressive-familial-intrahepatic-cholestasis-type-2 MONDO:0011157 A syndrome, which may be classified among the neurocutaneous syndromes, associates abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). It has been reported in 11 individuals so far. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behaviour and bipolar disorder have also been reported. https://github.com/monarch-initiative/mondo/issues/5588 Cerebellotrigeminal-dermal dysplasia syndrome Gomez-Lopez-Hernandez syndrome craniosynostosis-alopecia-brain defect syndrome Cerebellotrigeminal dermal dysplasia Cerebellotrigeminal dermal dysplasia cerebello-trigeminal-dermal dysplasia Cerebellotrigeminal-dermal dysplasia GLHS GOMEZ-LOPEZ-HERNANDEZ syndrome Gomez Lopez Hernandez syndrome Gomez-Lopez-Hernández syndrome Gómez-López-Hernández syndrome Gomez-Lopez-Hernandez syndrome https://rarediseases.info.nih.gov/diseases/229/gomez-lopez-hernandez-syndrome MONDO:0011158 https://github.com/monarch-initiative/mondo/issues/4521 autoimmune lymphoproliferative syndrome type 1 autoimmune lymphoproliferative syndrome, type IA autoimmune lymphoproliferative syndrome, type IB autoimmune lymphoproliferative syndrome, type 1A autoimmune lymphoproliferative syndrome, type 1B ALPS Canale-Smith syndrome autoimmune lymphoproliferative syndrome autoimmune lymphoproliferative syndrome, type I, autosomal dominant autoimmune lymphoproliferative syndrome, type I, autosomal recessive autoimmune lymphoproliferative syndrome type 1 MONDO:0011159 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 COL11A2 autosomal dominant nonsyndromic deafness DFNA13 autosomal dominant deafness 13 autosomal dominant nonsyndromic deafness 13 autosomal dominant nonsyndromic deafness caused by mutation in COL11A2 autosomal dominant nonsyndromic deafness type 13 deafness, autosomal dominant 13 deafness, autosomal dominant type 13 autosomal dominant nonsyndromic hearing loss 13 MONDO:0011160 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GIPC3 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB15 DFNB72 DFNB95 GIPC3 autosomal recessive nonsyndromic deafness autosomal recessive deafness 15 autosomal recessive deafness 72 autosomal recessive deafness 95 autosomal recessive nonsyndromic deafness 15 autosomal recessive nonsyndromic deafness caused by mutation in GIPC3 autosomal recessive nonsyndromic deafness type 15 deafness, autosomal recessive 15 deafness, autosomal recessive 72 deafness, autosomal recessive 95 deafness, autosomal recessive type 15 autosomal recessive nonsyndromic hearing loss 15 MONDO:0011161 sperm-specific antigen 1 sperm-specific antigen type 1 SSFA1 fertilization antigen 1 sperm-specific antigen 1 MONDO:0011162 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the GJA3 gene. CTRCT14 GJA3 early-onset non-syndromic cataract early-onset non-syndromic cataract caused by mutation in GJA3 CAE3 CZP3 zonular pulverulent cataract 3 Cae3 cataract 14, multiple types cataract, zonular pulverulent 3 cataract 14 multiple types MONDO:0011163 Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the CACNA1S gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 CACNA1S malignant hyperthermia of anesthesia malignant hyperthermia of anesthesia caused by mutation in CACNA1S malignant hyperthermia susceptibility 5 malignant hyperthermia, susceptibility to, 5 malignant hyperthermia, susceptibility to, type 5 MHS5 Mhs5 malignant hyperpyrexia susceptibility type 5 malignant hyperthermia susceptibility type 5 susceptibility to malignant hyperthermia 5 malignant hyperthermia, susceptibility to, 5 https://rarediseases.info.nih.gov/diseases/3367/malignant-hyperthermia-susceptibility-type-5 MONDO:0011164 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 malignant hyperthermia susceptibility 6 malignant hyperthermia, susceptibility to, 6 malignant hyperthermia, susceptibility to, type 6 MHS6 Mhs6 malignant hyperpyrexia susceptibility type 6 malignant hyperthermia susceptibility type 6 malignant hyperthermia, susceptibility to, 6 https://rarediseases.info.nih.gov/diseases/3368/malignant-hyperthermia-susceptibility-type-6 MONDO:0011165 Any fibronectin glomerulopathy in which the cause of the disease is a mutation in the FN1 gene. FN1 fibronectin glomerulopathy fibronectin glomerulopathy caused by mutation in FN1 glomerulopathy with fibronectin deposits 2 glomerulopathy with fibronectin deposits type 2 GFND2 fibronectin glomerulopathy glomerular nephritis familial with fibronectin deposits glomerular nephritis, familial, with fibronectin deposits glomerulopathy with fibronectin deposits 2 MONDO:0011166 Lymphedema-atrial septal defects-facial changes syndrome is characterised by congenital lymphoedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive. Irons-Bhan syndrome Irons-Bianchi syndrome Irons Bhan syndrome autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes lymphedema, CARDIAC septal defects, and characteristic facies lymphedema, atrial septal defect, and characteristic facial changes lymphedema, atrial septal defect, and characteristic facies lymphedema-atrial septal defects-facial changes syndrome https://rarediseases.info.nih.gov/diseases/284/irons-bhan-syndrome MONDO:0011167 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 18q21. https://github.com/monarch-initiative/mondo/issues/5033 IDDM6 insulin-dependent diabetes mellitus 6 autoimmune thyroid disease, susceptibility to, 5 diabetes mellitus, insulin-dependent, 6 type 1 diabetes mellitus 6 MONDO:0011168 Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the IL2RA gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5033 IDDM10 IL2RA type 1 diabetes mellitus diabetes mellitus, insulin-dependent, type 10 insulin-dependent diabetes mellitus 10 type 1 diabetes mellitus caused by mutation in IL2RA diabetes mellitus, insulin-dependent, 10 diabetes, mellitus, insulin-dependent, susceptibility to, 10 type 1 diabetes mellitus 10 MONDO:0011169 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma (KLICK) syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities. KLICK syndrome keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome KLICK Klick syndrome keratosis linearis with ichthyosis congenita and sclerosing keratoderma keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome MONDO:0011170 Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed. https://github.com/monarch-initiative/mondo/issues/4521 LGMD2G TCAP autosomal recessive limb-girdle muscular dystrophy Tcap autosomal recessive limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy caused by mutation in TCAP autosomal recessive limb-girdle muscular dystrophy caused by mutation in Tcap limb-girdle muscular dystrophy due to telethonin deficiency muscular dystrophy, limb-girdle, autosomal recessive 7 muscular dystrophy, limb-girdle, type 2G limb-girdle muscular dystrophy, type 2G autosomal recessive limb-girdle muscular dystrophy type 2G MONDO:0011171 Odonto-tricho-ungual-digito-palmar syndrome is characterised by neonatal teeth, trichodystrophy and malformations of the hands and feet. To date, it has been reported in 21 patients and is transmitted as an autosomal dominant trait. OTUDP syndrome odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type ODONTOTRICHOUNGUAL-digital-palmar syndrome Otudp syndrome odonto-tricho-ungual-digito-palmar syndrome MONDO:0011172 otofacioosseous-gonadal syndrome otofacioosseous-gonadal syndrome MONDO:0011173 Familial thrombocytosis in which the cause of the disease is a mutation in the MPL gene. https://github.com/monarch-initiative/mondo/issues/230 https://github.com/monarch-initiative/mondo/issues/4521 MPL familial thrombocytosis familial thrombocytosis caused by mutation in MPL thrombocythemia 2 thrombocythemia 2, autosomal dominant, somatic mutation thrombocythemia type 2 THCYT2 thrombocythemia 2 MONDO:0011174 hyperzincemia with functional zinc depletion hyperzincemia with functional zinc depletion MONDO:0011175 Any Friedreich ataxia with the locus FRDA2, which has linkage to chromosome 9p23-p11 FRDA2 Friedreich ataxia 2 Friedreich ataxia 2 MONDO:0011176 Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications. HOMG1 HSH PHSH TRPM6 familial primary hypomagnesemia TRPM6 primary hypomagnesemia familial primary hypomagnesemia caused by mutation in TRPM6 hypomagnesemia caused by selective magnesium malabsorption hypomagnesemia intestinal type 1 hypomagnesemic tetany intestinal hypomagnesemia type 1 intestinal hypomagnesemia with secondary hypocalcemia primary hypomagnesemia caused by mutation in TRPM6 primary hypomagnesemia with secondary hypocalcemia Homg hypomagnesemia 1, intestinal hypomagnesemia with secondary hypocalcemia hypomagnesemia, intestinal, with secondary hypocalcemia intestinal hypomagnesemia 1 MONDO:0011177 Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT85 gene. KRT85 pure hair and nail ectodermal dysplasia ectodermal dysplasia 4, hair/nail type pure hair and nail ectodermal dysplasia caused by mutation in KRT85 ECTD4 ectodermal dysplasia, 'Pure' hair/nail type pili torti onychodysplasia twisted hair with nail dysplasias ectodermal dysplasia 4, hair/nail type MONDO:0011178 Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy) and choreoathetotic dyskinetic attacks during childhood or adolescence. ICCA syndrome PKD/IC infantile convulsions and choreoathetosis paroxysmal kinesigenic dyskinesia and infantile convulsions ICCA Icca syndrome convulsions, familial infantile, with paroxysmal choreoathetosis convulsions, infantile, with paroxysmal choreoathetosis, familial infantile convulsions and paroxysmal choreoathetosis, familial paroxysmal kinesigenic dyskinesia with infantile convulsions infantile convulsions and choreoathetosis MONDO:0011179 leishmaniasis, tegumentary, susceptibility to leishmaniasis, tegumentary, susceptibility to MONDO:0011180 broad terminal phalanges, familial broad terminal phalanges, familial MONDO:0011181 Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the PHOX2A gene. https://github.com/monarch-initiative/mondo/issues/4069 PHOX2A congenital fibrosis of extraocular muscles congenital fibrosis of extraocular muscles caused by mutation in PHOX2A fibrosis of extraocular muscles, congenital, 2 fibrosis of extraocular muscles, congenital, type 2 CFEOM2 Feom2 locus fibrosis of extraocular muscles, congenital, autosomal recessive fibrosis of extraocular muscles, congenital, 2 MONDO:0011182 A rare inborn error of metabolism characterized by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odor in affected individuals. https://github.com/monarch-initiative/mondo/issues/3448 trimethylaminuria (disease) fish odor syndrome fish-odor syndrome trimethylaminuria trimethylaminuria (disease) TMAU TMAuria fish malodor syndrome stale fish syndrome trimethylaminuria MONDO:0011183 https://github.com/monarch-initiative/mondo/issues/4948 Paget disease of bone 2, early-onset PDB2 Paget disease of bone 2, early-onset MONDO:0011184 CAS childhood apraxia of speech developmental verbal dyspraxia speech and language disorder with orofacial dyspraxia speech-language disorder type 1 SPCH1 articulatory apraxia das developmental apraxia of speech developmental verbal apraxia speech-language disorder 1 speech-language disorder-1 childhood apraxia of speech MONDO:0011185 Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment. TBCD Thiel-Behnke corneal dystrophy Waardenburg-Jonker corneal dystrophy anterior limiting membrane dystrophy type 2 anterior limiting membrane dystrophy type II corneal dystrophy honeycomb-shaped corneal dystrophy of Bowman layer type 2 corneal dystrophy of Bowman layer type II curly fiber corneal dystrophy honeycomb corneal dystrophy CDB2 CDTB Thiel Behnke corneal dystrophy corneal dystrophy Thiel Behnke type corneal dystrophy honeycomb shaped corneal dystrophy of Bowman Layer, type 2 corneal dystrophy of the Bowman layer type 2 corneal dystrophy, Thiel-Behnke type corneal dystrophy, honeycomb-Shaped Thiel-Behnke corneal dystrophy https://rarediseases.info.nih.gov/diseases/9275/corneal-dystrophy-thiel-behnke-type MONDO:0011186 A form of Usher syndrome type IF that can be caused by homozygous or compound heterozygous mutation in the protocadherin-15 gene (PCDH15) on chromosome 10q. It is inherited in an autosomal recessive manner. USH1F Usher syndrome type 1F Usher syndrome type IF USHER syndrome, type IF Usher syndrome, type 1F Usher syndrome type 1F https://rarediseases.info.nih.gov/diseases/10043/usher-syndrome-type-1f MONDO:0011187 polydactyly, postaxial, type A2 PAPA2 postaxial polydactyly, type A2 polydactyly, postaxial, type A2 MONDO:0011188 An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22. ARVC3 ARVD3 arrhythmogenic right ventricular cardiomyopathy 3 arrhythmogenic right ventricular dysplasia type 3 familial arrhythmogenic right ventricular dysplasia 3 arrhythmogenic right ventricular dysplasia, familial, 3 arrhythmogenic right ventricular dysplasia 3 MONDO:0011189 An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3. ARVC4 ARVD4 arrhythmogenic right ventricular cardiomyopathy 4 arrhythmogenic right ventricular dysplasia type 4 fanilial arrhythmogenic right ventricular dysplasia 4 arrhythmogenic right ventricular dysplasia, familial, 4 arrhythmogenic right ventricular dysplasia 4 MONDO:0011190 Any nephronophthisis in which the cause of the disease is a mutation in the INVS gene. https://github.com/monarch-initiative/mondo/issues/4521 INVS nephronophthisis (disease) NPH2 NPHP2 infantile nephronophthisis 2 nephronophthisis (disease) caused by mutation in INVS nephronophthisis 2 nephronophthisis 2, infantile nephronophthisis type 2 Nph2 nephronophthisis 2 MONDO:0011191 https://github.com/monarch-initiative/mondo/issues/4521 hemangioma, capillary infantile, somatic hemangioma, capillary infantile, susceptibility to hemangioma, hereditary capillary HCI hemangioma, capillary infantile Editor note: consider merging or making class explicitly for inherited forms. capillary infantile hemangioma MONDO:0011192 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the USH1C gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB18A USH1C autosomal recessive nonsyndromic deafness autosomal recessive deafness 18A autosomal recessive nonsyndromic deafness 18A autosomal recessive nonsyndromic deafness caused by mutation in USH1C autosomal recessive nonsyndromic deafness type 18A deafness, autosomal recessive 18 deafness, autosomal recessive 18A deafness, autosomal recessive 18a deafness, autosomal recessive type 18A autosomal recessive nonsyndromic hearing loss 18A MONDO:0011193 Any cone dystrophy in which the cause of the disease is a mutation in the GUCA1A gene. https://github.com/monarch-initiative/mondo/issues/4521 GUCA1A cone dystrophy cone dystrophy 3 cone dystrophy caused by mutation in GUCA1A cone dystrophy type 3 cone dystrophy-3 COD3 cone-rod dystrophy 14 retinal cone dystrophy cone dystrophy 3 MONDO:0011194 https://github.com/monarch-initiative/mondo/issues/4521 AD5 Alzheimer disease 5 Alzheimer disease type 5 Alzheimer disease, familial 5 Alzheimer disease-5 Alzheimer's disease type 5 Ad5 Alzheimer disease, familial, 5 Alzheimer's disease 5 Alzheimer disease 5 MONDO:0011195 A form of Usher syndrome type I that features a novel locus for USH1, USH1E, mapping to chromosome band 21q21. It is inherited in an autosomal recessive manner. USH1E Usher syndrome type IE USHER syndrome, type IE Usher syndrome, type 1E Usher syndrome type 1E https://rarediseases.info.nih.gov/diseases/5439/usher-syndrome-type-1e MONDO:0011196 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SPG11 gene. ALS5 SPG11 amyotrophic lateral sclerosis amyotrophic lateral sclerosis 5 amyotrophic lateral sclerosis caused by mutation in SPG11 amyotrophic lateral sclerosis 5, juvenile amyotrophic lateral sclerosis type 5 https://rarediseases.info.nih.gov/diseases/10503/amyotrophic-lateral-sclerosis-type-5 MONDO:0011197 Hereditary thermosensitive neuropathy is a rare, demyelinating, hereditary motor and sensory neuropathy characterized by reversible episodes of ascending muscle weakness, paresthesias and areflexia triggered by a febrile episode, with or without pressure palsy. neuropathy, hereditary thermosensitive hereditary thermosensitive neuropathy MONDO:0011198 A spondyloepimetaphyseal dysplasia characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood. https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5280 SEMD type 2 SEMD, Missouri type spondyloepimetaphyseal dysplasia type 2 spondyloepimetaphyseal dysplasia, Missouri type Missouri type of spondyloepimetaphyseal dysplasia SEMD Missouri type metaphyseal anadysplasia 1 spondyloepimetaphyseal dysplasia Missouri type spondyloepimetaphyseal dysplasia, Missouri type https://rarediseases.info.nih.gov/diseases/10618/spondyloepimetaphyseal-dysplasia-missouri-type MONDO:0011199 nephropathy, progressive tubulointerstitial, with cholestatic liver disease nephropathy, progressive tubulointerstitial, with cholestatic liver disease MONDO:0011200 A focal dystonia characterized by predomiantly cervical dystonia that has material basis in variation in the chromosome region 18p. https://github.com/monarch-initiative/mondo/issues/4521 dystonia-7, torsion torsion dystonia type 7 DYT7 cervical dystonia, primary dystonia 7, torsion torsion dystonia, focal adult-onset torsion dystonia 7 MONDO:0011201 https://github.com/monarch-initiative/mondo/issues/4521 ETM2 essential tremor, hereditary, 2 tremor, hereditary essential, 2 tremor hereditary essential, 2 tremor, hereditary essential, 2 MONDO:0011202 RHYNS syndrome is characterised by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia. RHYNS syndrome retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome retinitis pigmentosa syndrome retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia RHYNS syndrome MONDO:0011203 Pierre Robin sequence with pectus excavatum and rib and scapular anomalies campomelic dysplasia, mild skeletal dysplasia related to campomelic dysplasia Pierre Robin sequence with pectus excavatum and rib and scapular anomalies https://rarediseases.info.nih.gov/diseases/10090/pierre-robin-sequence-with-pectus-excavatum-and-rib-and-scapular-anomalies MONDO:0011205 medium chain 3-ketoacyl-Coa thiolase deficiency Mckat deficiency medium-chain 3-ketoacyl-coa thiolase deficiency medium chain 3-ketoacyl-Coa thiolase deficiency https://rarediseases.info.nih.gov/diseases/10329/medium-chain-3-ketoacyl-coa-thiolase-deficiency MONDO:0011206 ventriculomegaly with defects of the radius and kidney ventriculomegaly with defects of the radius and kidney MONDO:0011207 https://github.com/monarch-initiative/mondo/issues/4882 xanthomatosis, susceptibility to xanthomatosis, susceptibility to MONDO:0011208 Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal. Degos disease Kohlmeier-Degos disease Kohlmeier-Degos-Delort-Tricort syndrome Köhlmeier-Degos disease Köhlmeier-Degos-Delort-Tricort syndrome malignant atrophic papulosis papulosis atrophican maligna Degos syndrome Degos's malignant atrophic papulosis atrophic papulosis, malignant papulosis, malignant atrophic malignant atrophic papulosis MONDO:0011209 progeroid facial appearance with hand anomalies progeroid facial appearance with hand anomalies MONDO:0011210 mitochondrial intermembrane space protein Tim12, yeast, homolog of mitochondrial intermembrane space protein Tim12, yeast, homolog of MONDO:0011211 Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones.Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine,upper arms and upper legs, and results in shortened stature.For reasons not well understood,this rare skeletal dysplasia is also associated withearly and progressivevision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown.It is thought to be inherited in an autosomal recessive fashion. https://github.com/monarch-initiative/mondo/issues/4948 SMDAX SmD axial SmD, axial axial SmD spondylometaphyseal dysplasia axial type spondylometaphyseal dysplasia, axial axial spondylometaphyseal dysplasia https://rarediseases.info.nih.gov/diseases/8720/axial-spondylometaphyseal-dysplasia MONDO:0011212 sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth MONDO:0011213 Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear. https://github.com/monarch-initiative/mondo/issues/5588 Pierpont syndrome plantar lipomatosis-facial dysmorphism-developmental delay syndrome plantar lipomatosis-unusual facies-developmental delay syndrome PIERPONT syndrome PRPTS plantar lipomatosis, unusual facies, and developmental delay Pierpont syndrome MONDO:0011214 Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood. https://github.com/monarch-initiative/mondo/issues/4521 ABCB4 progressive familial intrahepatic cholestasis PFIC3 cholestasis, progressive familial intrahepatic 3 cholestasis, progressive familial intrahepatic, type 3 progressive familial intrahepatic cholestasis caused by mutation in ABCB4 Mdr3 deficiency cholestasis, progressive familial intrahepatic, 3 cholestasis, progressive familial intrahepatic, with elevated serum gamma-glutamyltransferase progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase progressive familial intrahepatic cholestasis type 3 https://rarediseases.info.nih.gov/diseases/1289/progressive-familial-intrahepatic-cholestasis-type-3 MONDO:0011215 Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization. https://github.com/monarch-initiative/mondo/issues/4948 Osteocraniosplenic syndrome gracile bone dysplasia osteocraniostenosis GCLEB Habrodysplasia skeletal dysplasia lethal with gracile bones skeletal dysplasia, lethal, with gracile bones osteocraniostenosis MONDO:0011216 Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HJV gene. HFE2A HJV hemochromatosis type 2 hemochromatosis type 2 caused by mutation in HJV hemochromatosis type 2A hemochromatosis, juvenile hemochromatosis, type 2 hemochromatosis, type 2A hemochromatosis type 2A MONDO:0011217 Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol. https://github.com/monarch-initiative/mondo/issues/4948 desmosterolosis desmosterolosis https://rarediseases.info.nih.gov/diseases/10283/desmosterolosis MONDO:0011218 https://github.com/monarch-initiative/mondo/issues/4069 IFAH syndrome IHS autosomal recessive congenital ichthyosis 11 autosomal recessive congenital ichthyosis type 11 autosomal recessive ichthyosis with hypotrichosis hypotrichosis-congenital ichthyosis syndrome ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis ichthyosis, congenital, autosomal recessive type 11 ichthyosis-follicular atrophoderma-hypotrichosis syndrome ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome ichthyosis-hypotrichosis syndrome ARCI11 ARIH ichthyosis with hypotrichosis, autosomal recessive ichthyosis, congenital, autosomal recessive 11 autosomal recessive congenital ichthyosis 11 MONDO:0011219 ECTD8 ectodermal dysplasia 8, hair/tooth/nail type Fried's tooth and nail syndrome MONDO:0011220 https://github.com/monarch-initiative/mondo/issues/4521 PARK3 Parkinson disease 3 Parkinson disease 3, autosomal dominant Parkinson disease 3, autosomal dominant Lewy body Parkinson disease type 3 autosomal dominant Parkinson disease parkinson disease 3, autosomal dominant MONDO:0011221 Weyers ulnar ray/oligodactyly syndrome Weyers ulnar ray/oligodactyly syndrome https://rarediseases.info.nih.gov/diseases/10178/weyers-ulnar-rayoligodactyly-syndrome MONDO:0011223 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SETX gene. ALS 4 ALS4 SETX amyotrophic lateral sclerosis amyotrophic lateral sclerosis 4 amyotrophic lateral sclerosis 4, juvenile amyotrophic lateral sclerosis caused by mutation in SETX dHMN with upper motor neuron signs distal hereditary motor neuropathy with pyramidal features distal hereditary motor neuropathy with upper motor neuron signs neuronopathy, distal hereditary motor, with pyramidal features amyotrophic lateral sclerosis type 4 https://rarediseases.info.nih.gov/diseases/10502/amyotrophic-lateral-sclerosis-type-4 MONDO:0011224 Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms. Hirayama disease JMADUE benign focal amyotrophy juvenile muscular atrophy of distal upper extremity juvenile muscular atrophy of the distal upper limb amyotrophy, monomelic spinal muscular atrophy juvenile nonprogressive spinal muscular atrophy, juvenile, nonprogressive monomelic amyotrophy https://rarediseases.info.nih.gov/diseases/9697/monomelic-amyotrophy MONDO:0011225 Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation. DCLRE1C severe combined immunodeficiency (disease) SCID due to ARTEMIS deficiency SCID due to DCLRE1C deficiency SCID due to artemis deficiency SCID, Athabascan type SCID, Athabaskan type severe combined immunodeficiency (disease) caused by mutation in DCLRE1C severe combined immunodeficiency due to ARTEMIS deficiency severe combined immunodeficiency due to DCLRE1C deficiency severe combined immunodeficiency due to artemis deficiency severe combined immunodeficiency, Athabascan type severe combined immunodeficiency, Athabaskan type Athabaskan Severe combined immunodeficiency RS-SCID SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation artemis deficiency severe combined immunodeficiency with sensitivity to ionizing radiation severe combined immunodeficiency, Athabaskan-type severe combined immunodeficiency, partial severe combined immunodeficiency due to DCLRE1C deficiency https://rarediseases.info.nih.gov/diseases/9987/severe-combined-immunodeficiency-with-sensitivity-to-ionizing-radiation MONDO:0011226 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the POU4F3 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA15 POU4F3 autosomal dominant nonsyndromic deafness autosomal dominant deafness 15 autosomal dominant nonsyndromic deafness 15 autosomal dominant nonsyndromic deafness caused by mutation in POU4F3 autosomal dominant nonsyndromic deafness type 15 deafness, autosomal dominant 15 deafness, autosomal dominant type 15 autosomal dominant nonsyndromic hearing loss 15 MONDO:0011227 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 SAMS syndrome short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities SAMS short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome MONDO:0011228 creases, infra-auricular cutaneous, with tall stature and advanced bone age creases, infra-auricular cutaneous, with tall stature and advanced bone age MONDO:0011229 Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhoea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities. https://github.com/monarch-initiative/mondo/issues/5671 EE EPEMA syndrome eme encephalopathy, ethylmalonic encephalopathy, petechiae, and ethylmalonic aciduria syndrome of encephalopathy, petechiae, and ethylmalonic aciduria ethylmalonic encephalopathy https://rarediseases.info.nih.gov/diseases/2198/ethylmalonic-encephalopathy MONDO:0011230 A disorder characterized by benign depositions of calcium in the posterior longitudinal ligament. Signs and symptoms result from the compression of nerve roots and include motor and sensory disturbances in the lower and upper extremities, and pain in the neck and arms. OPLL ossification of Posterior longitudinal ligament ossification of the POSTERIOR longitudinal ligament of spine ossification of the posterior longitudinal ligament of the spine MONDO:0011231 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 FEB2 epilepsy, idiopathic generalized, susceptibility to, 17 febrile seizures, familial, 2 generalized epilepsy with febrile seizures plus, type 11 convulsions, familial febrile, 2 febrile seizures, familial, 2 MONDO:0011232 Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the ATP1A2 gene. ATP1A2 familial or sporadic hemiplegic migraine familial or sporadic hemiplegic migraine caused by mutation in ATP1A2 migraine, familial hemiplegic, 2 migraine, familial hemiplegic, type 2 FHM2 Mhp2 familial hemiplegic migraine type 2 hemiplegic migraine, familial type 2 migraine, familial basilar migraine, familial hemiplegic, 2 MONDO:0011233 Any Axenfeld-Rieger syndrome in which the cause of the disease is a mutation in the FOXC1 gene. https://github.com/monarch-initiative/mondo/issues/5789 Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss Axenfeld-Rieger syndrome caused by mutation in FOXC1 Axenfeld-Rieger syndrome type 3 FOXC1 Axenfeld-Rieger syndrome RIEG3 Rieger syndrome type 3 anterior chamber cleavage syndrome Axenfeld anomaly Axenfeld-Rieger anomaly Axenfeld-Rieger anomaly with Cardiac defects and/Or sensorineural hearing loss Axenfeld-Rieger anomaly with or without Cardiac defects and/or sensorineural hearing loss Axenfeld-Rieger syndrome, type 3 Rieger anomaly Rieger syndrome, type 3 anterior chamber Cleavage syndrome anterior segment mesenchymal dysgenesis Axenfeld-Rieger syndrome type 3 MONDO:0011234 Any auriculocondylar syndrome in which the cause of the disease is a mutation in the GNAI3 gene. https://github.com/monarch-initiative/mondo/issues/4948 Auriculocondylar syndrome 1 Auriculocondylar syndrome type 1 GNAI3 auriculocondylar syndrome auriculocondylar syndrome caused by mutation in GNAI3 ARCND1 AURICULOCONDYLAR syndrome 1 question Mark ears syndrome auriculocondylar syndrome 1 MONDO:0011235 Ray-Peterson-Scott syndrome pelvic dysplasia arthrogryposis of lower limbs pelvic hypoplasia with LOWER-limb arthrogryposis pelvic hypoplasia with arthrogryposis of lower limbs pelvic hypoplasia with lower limb arthrogryposis pelvic dysplasia-arthrogryposis of lower limbs syndrome MONDO:0011236 Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism, caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. https://github.com/monarch-initiative/mondo/issues/4985 hyperinsulinemic hypoglycemia due to glucokinase deficiency hyperinsulinemic hypoglycemia, familial, type 3 HHF3 hyperinsulinemic hypoglycemia familial 3 hyperinsulinemic hypoglycemia, familial, 3 hyperinsulinism due to glucokinase deficiency https://rarediseases.info.nih.gov/diseases/9930/hyperinsulinemic-hypoglycemia-familial-3 MONDO:0011237 An inherited susceptibility or predisposition to developing familial combined hyperlipidemia, in which the cause of the disease is a mutation in the USF1 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 USF1 familial combined hyperlipidemia familial combined hyperlipidemia caused by mutation in USF1 hyperlipidemia, combined, 1 hyperlipidemia, combined, type 1 hyperlipidemia, familial combined, susceptibility to hyperlipidemia, familial combined, 1 hyplip1 hyperlipidemia, combined, 1 MONDO:0011238 chondrodysplasia punctata, brachytelephalangic, autosomal brachytelephalangic chondrodysplasia punctata chondrodysplasia punctata, brachytelephalangic, autosomal MONDO:0011239 MACOM syndrome MACOM macrophthalmia, colobomatous, with microcornea colobomatous macrophthalmia-microcornea syndrome MONDO:0011240 A polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5210 MCAP MCM MCMTC macrocephaly-capillary malformation syndrome macrocephaly-cutis marmorata telangiectatica congenita syndrome megalencephaly-capillary malformation syndrome megalencephaly-capillary malformation-polymicrogyria syndrome megalencephaly-capillary malformation-polymicrogyria syndrome, somatic megalencephaly-cutis marmorata telangiectatica congenita syndrome M-CM M-CMTC macrocephaly cutis marmorata telangiectatica congenita macrocephaly-capillary malformation macrocephaly-cutis marmorata telangiectatica congenita megalencephaly cutis marmorata telangiectatica congenita megalencephaly-cutis marmorata telangiectatica congenita megalocephaly cutis marmorata telangiectatica congenita megalencephaly-capillary malformation-polymicrogyria syndrome MONDO:0011241 pseudoacromegaly with severe insulin resistance pseudoacromegaly with severe insulin resistance MONDO:0011242 Any Bartter syndrome in which the cause of the disease is a mutation in the BSND gene. BARTS4A BSND BSND Bartter syndrome Bartter disease type 4a Bartter syndrome caused by mutation in BSND Bartter syndrome type 4a neonatal Bartter syndrome with sensorineural deafness Bartter syndrome, infantile, with sensorineural deafness Bartter syndrome, neonatal, with sensorineural deafness Bartter syndrome, type 4A Bartter syndrome, type 4A, neonatal, with sensorineural deafness sensorineural deafness with mild renal dysfunction Bartter disease type 4a MONDO:0011243 Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases. grange occlusive arterial syndrome grange syndrome progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome GRNG arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly grange syndrome MONDO:0011244 Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth. https://github.com/monarch-initiative/mondo/issues/4948 Marshall-Smith syndrome accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome MRSHSS Marshall-SMITH syndrome Marshall-Smith syndrome https://rarediseases.info.nih.gov/diseases/6985/marshall-smith-syndrome MONDO:0011245 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 hystrix-like ichthyosis with deafness ichthyosis, hystrix-like, with deafness HID syndrome ichthyosis, hystrix-like, with hearing loss MONDO:0011246 https://github.com/monarch-initiative/mondo/issues/4069 congenital megaconial myopathy congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect congenital muscular dystrophy with mitochondrial structural abnormalities megaconial congenital muscular dystrophy megaconial type congenital muscular dystrophy MDCMC megaconial congénital muscular dystrophy muscular dystrophy, congenital, megaconial type muscular dystrophy, congenital, with mitochondrial structural abnormalities megaconial type congenital muscular dystrophy https://rarediseases.info.nih.gov/diseases/10317/muscular-dystrophy-congenital-megaconial-type MONDO:0011247 jejunal atresia with renal adysplasia jejunal atresia with renal adysplasia https://rarediseases.info.nih.gov/diseases/9985/jejunal-atresia-with-renal-adysplasia MONDO:0011248 Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported. https://github.com/monarch-initiative/mondo/issues/3664 13q32 deletion deletion 13q32 distal 13q deletion distal monosomy type 13q monosomy 13q32 telomeric deletion13q anal atresia, hypospadias, and penoscrotal inversion distal monosomy 13q MONDO:0011249 A dystonia characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy. torsion dystonia with onset in infancy torsion dystonia with onset in infancy MONDO:0011250 microcephaly, macrotia, and intellectual disability microcephaly, macrotia, and mental retardation microcephaly, macrotia, and intellectual disability MONDO:0011251 facial dysmorphism, cleft palate, hearing loss, and camptodactyly facial dysmorphism, cleft palate, hearing loss, and camptodactyly MONDO:0011252 A spondyloepimetaphyseal dysplasia characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly. https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5280 SEMD, Shohat type spondyloepimetaphyseal dysplasia, Shohat type SEMD Shohat type SEMDSH spondyloepimetaphyseal dysplasia Shohat type spondyloepimetaphyseal dysplasia, Shohat type https://rarediseases.info.nih.gov/diseases/4980/spondyloepimetaphyseal-dysplasia-shohat-type MONDO:0011253 Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly. craniomicromelic syndrome craniomicromelic syndrome https://rarediseases.info.nih.gov/diseases/1583/craniomicromelic-syndrome MONDO:0011254 brachydactyly, intraventricular septal defect, and deafness brachydactyly, intraventricular septal defect, and deafness MONDO:0011255 macroblepharon-ectropion-hypertelorism-macrostomia syndrome Verloes-Lesenfants syndrome macroblepharon, ectropion, hypertelorism, and macrostomia mandibulofacial dysostosis with macroblepharon and macrostomia mandibulofacial dysostosis-macroblepharon-macrostomia syndrome MONDO:0011256 emphysema, congenital, with deafness, penoscrotal web, and intellectual disability emphysema, congenital, with deafness, penoscrotal web, and mental retardation emphysema, congenital, with deafness, penoscrotal web, and intellectual disability MONDO:0011257 MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1). CDG syndrome type IB CDG-Ib CDG1B MPI-CDG carbohydrate deficient glycoprotein syndrome type IB congenital disorder of glycosylation type 1b congenital disorder of glycosylation type IB phosphomannose isomerase deficiency CDG 1B CDG Ib CDG gastrointestinal type CDG, gastrointestinal type MPI-CDG (CDG-Ib) Mannosephosphate isomerase deficiency Mpi deficiency Protein-losing enteropathy-hepatic fibrosis syndrome SLSJ syndrome Saguenay Lac Saint Jean syndrome Saguenay-Lac Saint-Jean syndrome Slsj syndrome carbohydrate-deficient glycoprotein syndrome type 1B congenital disorder of glycosylation, type IB MPI-congenital disorder of glycosylation MONDO:0011258 Any branchiootic syndrome in which the cause of the disease is a mutation in the EYA1 gene. EYA1 branchiootic syndrome branchiootic syndrome 1 branchiootic syndrome caused by mutation in EYA1 branchiootic syndrome type 1 BOS1 anterior segment anomalies with or without cataract bo syndrome 1 branchiootic dysplasia branchiootic syndrome 1 MONDO:0011259 A retinitis pigmentosa that has material basis in variation in the chromosome region 16p12.3-p12.1. RP22 retinitis pigmentosa 22 retinitis pigmentosa type 22 RP 22 retinitis pigmentosa 22 https://rarediseases.info.nih.gov/diseases/10393/retinitis-pigmentosa-22 MONDO:0011260 An instance of pancreas lymphoma that is caused by an inherited modification of the individual's genome. hereditary pancreas lymphoma pancreatic lymphoma, familial pancreatic lymphoma, familial MONDO:0011261 A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. This is an n-of-1 use case where only one patient or family has been described with this disorder. https://github.com/monarch-initiative/mondo/issues/5588 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataract-intellectual disability syndrome spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability MONDO:0011262 A rare multiple congenital anomalies syndrome characterized by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline). camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye Rozin hertz Goodman syndrome camptodactyly, joint contractures, facial skeletal defects camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye MONDO:0011263 skeletal dysplasia and progressive central nervous system degeneration, lethal skeletal dysplasia and progressive central nervous system degeneration, lethal MONDO:0011264 Primary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases. DYT-THAP1 DYT6 THAP1 generalized isolated dystonia generalized cervical and upper-limb-onset dystonia generalized isolated dystonia caused by mutation in THAP1 idiopathic torsion dystonia of mixed type torsion dystonia type 6 adolescent-onset dystonia of mixed type dystonia 6 dystonia 6, torsion primary dystonia, DYT6 type torsion dystonia adult onset mixed type torsion dystonia, adult-onset, mixed type torsion dystonia 6 MONDO:0011265 STHAG2 tooth agenesis, selective, 2 hypodontia/oligodontia 2 tooth agenesis, selective, 2 MONDO:0011266 Myotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders. CNBP myotonic dystrophy myotonic dystrophy caused by mutation in CNBP myotonic dystrophy type 2 proximal myotonic dystrophy proximal myotonic myopathy ricker disease ricker syndrome DM2 PROMM dystrophia myotonica 2 dystrophia myotonica type 2 myotonic dystrophy 2 myotonic myopathy, proximal myotonic dystrophy type 2 https://rarediseases.info.nih.gov/diseases/9728/myotonic-dystrophy-type-2 MONDO:0011267 https://github.com/monarch-initiative/mondo/issues/4521 intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration mental retardation, severe, with spasticity and tapetoretinal degeneration Mrst mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration MONDO:0011268 https://github.com/monarch-initiative/mondo/issues/4521 classical distal RTA classical distal renal tubular acidosis distal renal tubular acidosis 3, with or without sensorineural hearing loss renal tubular acidosis, distal, 3, with or without sensorineural hearing loss renal tubular acidosis, distal, autosomal recessive type 1 RTA type 1 renal tubular acidosis RTA, distal, autosomal recessive RTADR renal tubular acidosis, autosomal recessive with preserved hearing renal tubular acidosis, autosomal recessive, with preserved hearing renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss, included renal tubular acidosis, distal, 3, with or without sensorineural hearing loss MONDO:0011269 Any psoriasis in which the cause of the disease is a mutation in the CARD14 gene. CARD14 psoriasis psoriasis 2 psoriasis caused by mutation in CARD14 psoriasis type 2 PSORS2 psoriasis 2 MONDO:0011270 https://github.com/monarch-initiative/mondo/issues/4521 prostate cancer, hereditary, 8 prostate cancer, hereditary, type 8 HPC8 predisposing for prostate cancer prostate cancer, susceptibility to prostate cancer, hereditary, 8 MONDO:0011271 An inherited muscular dystrophy caused by mutations in the SEPN1 gene. It is characterized by severe limitation in flexion of the dorsolumbar and cervical spine, due to contracture of the spinal extensors. It leads to loss of movement of the spine and the thoracic cage. https://github.com/monarch-initiative/mondo/issues/4521 classic MmD classic multiminicore disease classic multiminicore myopathy rigid spine syndrome Eichsfeld type congenital muscular dystrophy MDRS1 RSMD1 RSS SELENON rigid spine syndrome congenital merosin-positive muscular dystrophy with early spine rigidity desmin-related myopathy with Mallory bodies minicore myopathy, severe classic form multicore myopathy, severe classic form multiminicore disease, severe classic form muscular dystrophy, congenital, Eichsfeld type muscular dystrophy, congenital, merosin-positive, with early spine rigidity muscular dystrophy, rigid spine, 1 myopathy, SEPN1-related rigid spine muscular dystrophy 1 rigid spine muscular dystrophy type 1 rigid spine syndrome caused by mutation in SELENON severe classic form minicore myopathy severe classic form multicore myopathy severe classic form multiminicore disease SEPN1-related myopathy rigid spine muscular dystrophy 1 MONDO:0011272 Any retinitis pigmentosa in which the cause of the disease is a mutation in the EYS gene. https://github.com/monarch-initiative/mondo/issues/5693 EYS retinitis pigmentosa RP25 retinitis pigmentosa 25 retinitis pigmentosa caused by mutation in EYS retinitis pigmentosa type 25 RP 25 retinitis pigmentosa 25 https://rarediseases.info.nih.gov/diseases/10384/retinitis-pigmentosa-25 MONDO:0011273 A systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). https://github.com/monarch-initiative/mondo/issues/5723 Asrar Facharzt Haque syndrome H syndrome Faisalabad histiocytosis HJCD Rosai-Dorfman disease, familial SLC29A3 spectrum disorder histiocytosis and lymphadenopathy with or without cutaneous, Cardiac, and/or endocrine features, Joint contractures, and/or deafness histiocytosis with Joint contractures and sensorineural deafness histiocytosis-lymphadenopathy plus syndrome hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss pigmented hypertrichosis with insulin-dependent diabetes mellitus sinus histiocytosis and massive lymphadenopathy H syndrome https://rarediseases.info.nih.gov/diseases/581/asrar-facharzt-haque-syndrome MONDO:0011274 Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay. https://github.com/monarch-initiative/mondo/issues/4948 FGFR3-related craniosynostosis Muenke syndrome MNKES Muenke nonsyndromic coronal craniosynostosis syndrome of coronal craniosynostosis Muenke syndrome https://rarediseases.info.nih.gov/diseases/7097/muenke-syndrome MONDO:0011275 A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 acromesomelic dysplasia 1, Maroteaux type acromesomelic dysplasia, Maroteaux type AMDM St. Helena dysplasia acromesomelic dwarfism Maroteux type acromesomelic dysplasia Maroteaux type acromesomelic dysplasia 1, Maroteaux type https://rarediseases.info.nih.gov/diseases/507/acromesomelic-dysplasia-maroteaux-type MONDO:0011276 OFC2 orofacial cleft 2 cleft lip with or without cleft palate, nonsyndromic, 2 orofacial cleft 2 MONDO:0011279 An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S2453 and D7S525 in the chromosome region 7q31. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB17 autosomal recessive deafness 17 autosomal recessive nonsyndromic deafness 17 autosomal recessive nonsyndromic deafness type 17 deafness, autosomal recessive 17 autosomal recessive nonsyndromic hearing loss 17 MONDO:0011280 A schizophrenia that has material basis in an autosomal dominant mutation of SCZD6 on chromosome 8p21. https://github.com/monarch-initiative/mondo/issues/4521 SCZD6 schizophrenia 6 schizophrenia susceptibility locus, chromosome 8P-related schizophrenia 6 MONDO:0011281 Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner. CMS Ic CMS5 COLQ congenital myasthenic syndrome EAD Engel congenital myasthenic syndrome congenital myasthenic syndrome 5 congenital myasthenic syndrome Engel type congenital myasthenic syndrome caused by mutation in COLQ congenital myasthenic syndrome type 5 congenital myasthenic syndrome type Ic end plate acetylcholinesterase deficiency myasthenic syndrome, congenital, type 5 Cms Ic Cms Ic, formerly congenital myasthenic syndrome type Ic, formerly endplate acetylcholinesterase deficiency myasthenic syndrome, congenital, 5 myasthenic syndrome, congenital, Engel type congenital myasthenic syndrome 5 MONDO:0011282 https://github.com/monarch-initiative/mondo/issues/4521 nonsmall cell lung cancer tumor suppressor Gene on chromosome type 11 tumor suppressor gene on chromosome 11 Nonsmall cell lung cancer suppressor Tsg11 tumor suppressor gene on chromosome 11 MONDO:0011283 mitochondrial DNA depletion syndrome 1 mitochondrial DNA depletion syndrome type 1 MTDPS1 Mngie, tymp-related Polip syndrome mitochondrial DNA depletion syndrome 1 (MNGIE type) mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related myoneurogastrointestinal encephalopathy syndrome polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction mitochondrial DNA depletion syndrome 1 MONDO:0011284 Unequal curvature of the refractive surfaces of the eye. Thus a point source of light cannot be brought to a point focus on the retina but is spread over a more or less diffuse area. This results from the radius of curvature in one plane being longer or shorter than the radius at right angles to it. (Dorland, 27th ed) astigmatism (disease) astigmatism astigmatism (disease) astigmatism MONDO:0011285 An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1. https://github.com/monarch-initiative/mondo/issues/4521 macular degeneration, age-related ARMD1 age related macular degeneration type 1 age related maculopathy 1 macular Degeneration, age-related, type 1 macular degeneration, age-related, reduced risk of macular degeneration, age-related, 1 maculopathy, age-related, 1 age related macular degeneration 1 MONDO:0011286 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 7q34-q36. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB13 autosomal recessive deafness 13 autosomal recessive nonsyndromic deafness 13 autosomal recessive nonsyndromic deafness type 13 deafness, autosomal recessive 13 autosomal recessive nonsyndromic hearing loss 13 MONDO:0011287 Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S). CAP syndrome CDAGS syndrome craniosynostosis and clavicular hypoplasia, delayed closure of the fontanel, anal anomalies and genitourinary malformations craniosynostosis, anal anomalies, and porokeratosis craniosynostosis-anal anomalies-porokeratosis syndrome MONDO:0011288 spastic paraplegia, optic atrophy, microcephaly, and XY SEX reversal spastic paraplegia, optic atrophy, microcephaly, and 10Y sex reversal MONDO:0011289 apraxia of eyelid opening apraxia of eyelid opening MONDO:0011290 dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and mental retardation dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability MONDO:0011291 A form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3). https://github.com/monarch-initiative/mondo/issues/4069 ALG6 congenital disorder of glycosylation ALG6-CDG (CDG-Ic) ALG6-CDG1C ALG6-congenital disorder of glycosylation 1C CDG syndrome type Ic CDG-Ic CDG1C CDGIc carbohydrate deficient glycoprotein syndrome type Ic congenital disorder of glycosylation caused by mutation in ALG6 congenital disorder of glycosylation type 1C congenital disorder of glycosylation type Ic glucosyltransferase 1 deficiency ALG6-CDG CDG 1C CDG Ic CDGS5 (formerly) carbohydrate-deficient glycoprotein syndrome type 1C carbohydrate-deficient glycoprotein syndrome, type 1 with deficient glycosylation of dolichol-linked oligosaccharide (formerly) carbohydrate-deficient glycoprotein syndrome, type I, with deficient glycosylation of dolichol-linked oligosaccharide carbohydrate-deficient glycoprotein syndrome, type I, with deficient glycosylation of dolichol-linked oligosaccharide, formerly carbohydrate-deficient glycoprotein syndrome, type V carbohydrate-deficient glycoprotein syndrome, type V (formerly) carbohydrate-deficient glycoprotein syndrome, type V, formerly congenital disorder of glycosylation, type Ic ALG6-congenital disorder of glycosylation 1C MONDO:0011292 https://github.com/monarch-initiative/mondo/issues/4521 ATOD dermatitis, atopic eczema, atopic dermatitis, atopic MONDO:0011294 A schizophrenia that has material basis in a mutation on chromosome 6q13-q26. SCZD5 schizophrenia 5 schizophrenia 5 with or without an affective disorder schizophrenia susceptibility locus, chromosome 6Q-related schizophrenia 5 MONDO:0011295 A schizophrenia that has material basis in an autosomal dominant mutation of SCZD7 on chromosome 13q32. SCZD7 schizophrenia 7 schizophrenia 7 with or without an affective disorder schizophrenia susceptibility locus, chromosome 13Q-related schizophrenia 7 MONDO:0011296 Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM216 gene. https://github.com/monarch-initiative/mondo/issues/4948 MKS2 Meckel syndrome caused by mutation in TMEM216 Meckel syndrome, type 2 Meckel-Gruber syndrome, type 2 TMEM216 Meckel syndrome Meckel syndrome 2 Meckel syndrome type 2 Meckel syndrome, type 2 https://rarediseases.info.nih.gov/diseases/8743/meckel-syndrome-type-2 MONDO:0011297 An autosomal dominant nocturnal frontal lobe epilepsy that has material basis in variation in the chromosome region 15q24. https://github.com/monarch-initiative/mondo/issues/4521 ENFL2 autosomal dominant nocturnal frontal lobe epilepsy type 2 epilepsy, nocturnal frontal lobe, type 2 nocturnal frontal lobe epilepsy 2 epilepsy, nocturnal frontal lobe, 2 autosomal dominant nocturnal frontal lobe epilepsy 2 MONDO:0011298 A schizophrenia that has material basis in an autosomal dominant mutation of SCZD8 on chromosome 18p. SCZD8 schizophrenia 8 schizophrenia 8 with or without an affective disorder schizophrenia susceptibility locus, chromosome 18-related schizophrenia 8 MONDO:0011299 Any neurodegenerative disease with chorea in which the cause of the disease is a mutation in the PRNP gene. HDL1 HLN1 Huntington disease-like 1 Huntington disease-like type 1 Huntington-like neurodegenerative disorder 1 PRNP neurodegenerative disease with chorea autosomal dominant Huntington-like neurodegenerative disorder early-onset prion disease with prominent psychiatric features neurodegenerative disease with chorea caused by mutation in PRNP Huntington's disease-like 1 Huntington-like neurodegenerative disorder, autosomal dominant prion disease, early-onset, with prominent psychiatric features Huntington disease-like 1 MONDO:0011300 https://github.com/monarch-initiative/mondo/issues/4521 MYP3 myopia 3, autosomal dominant myopia-3 myopia 3, autosomal dominant MONDO:0011301 Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance. https://github.com/monarch-initiative/mondo/issues/4521 pseudohypoparathyroidism Ib PHP1B Php 1B pseudohypoparathyroidism type IB pseudohypoparathyroidism, type 1B pseudohypoparathyroidism, type IB pseudohypoparathyroidism type 1B https://rarediseases.info.nih.gov/diseases/10680/pseudohypoparathyroidism-type-1b MONDO:0011302 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 10q25. https://github.com/monarch-initiative/mondo/issues/5033 IDDM17 insulin-dependent diabetes mellitus 17 diabetes mellitus, insulin-dependent, 17 type 1 diabetes mellitus 17 MONDO:0011303 Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ACTN4 gene. ACTN4 focal segmental glomerulosclerosis FSGS1 familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis focal segmental glomerulosclerosis 1 focal segmental glomerulosclerosis caused by mutation in ACTN4 focal segmental glomerulosclerosis type 1 familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis glomerulosclerosis, focal segmental, 1 focal segmental glomerulosclerosis 1 MONDO:0011304 Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the CCM2 gene. https://github.com/monarch-initiative/mondo/issues/4521 CCM2 CCM2 familial cerebral cavernous malformation cerebral cavernous malformation 2 cerebral cavernous malformation type 2 cerebral cavernous malformations type 2 cerebral cavernous malformations-2 familial cerebral cavernous malformation caused by mutation in CCM2 cerebral cavernous malformations 2 cerebral cavernous malformation 2 MONDO:0011305 Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the PDCD10 gene. https://github.com/monarch-initiative/mondo/issues/4521 CCM3 PDCD10 familial cerebral cavernous malformation cerebral cavernous malformation 3 cerebral cavernous malformation type 3 cerebral cavernous malformations 3 cerebral cavernous malformations type 3 cerebral cavernous malformations-3 familial cerebral cavernous malformation caused by mutation in PDCD10 cerebral cavernous malformation 3 MONDO:0011306 muscular dystrophy, congenital, with cerebellar atrophy muscular dystrophy, congenital, with cerebellar atrophy MONDO:0011307 A schizophrenia that has material basis in an autosomal dominant mutation of SCZD2 on chromosome 11q14-q21. SCZD2 schizophrenia 2 schizophrenia susceptibility locus, chromosome 11Q-related schizophrenia 2 MONDO:0011308 GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E). Fellman disease Growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome gracile syndrome FLNMS Fellman syndrome Finnish lactic acidosis with hepatic hemosiderosis Finnish lethal neonatal metabolic syndrome Growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death Growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis and early death lactic acidosis, Finnish, with hepatic hemosiderosis GRACILE syndrome MONDO:0011309 hyperthyroidism, familial gestational familial gestational hyperthyroidism MONDO:0011310 long chain fatty acids, defect in TRANSPORT OF long chain fatty acids, defect in transport of MONDO:0011312 https://github.com/monarch-initiative/mondo/issues/4521 thyroid carcinoma, nonmedullary, with cell oxyphilia thyroid carcinoma, nonmedullary, with or without cell oxyphilia TCO TCO 1 TCO1 nonmedullary thyroid carcinoma, with or without cell oxyphilia thyroid carcinoma, nonmedullary, with or without cell oxyphilia https://rarediseases.info.nih.gov/diseases/8488/nonmedullary-thyroid-carcinoma-with-or-without-cell-oxyphilia MONDO:0011313 Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the PIK3R2 gene. PIK3R2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 1 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in PIK3R2 MPPH1 Meg-PMG-Megacc syndrome megalencephaly, mega corpus callosum, and complete lack of motor development megalencephaly, polymicrogyria, mega corpus callosum syndrome megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 MONDO:0011314 https://github.com/monarch-initiative/mondo/issues/4882 Graves disease, susceptibility to, 2 Graves disease, susceptibility to, type 2 Grd2 Graves disease, susceptibility to, 2 MONDO:0011315 Osebold skeletal dysplasia/osteolysis syndrome Osebold skeletal dysplasia/osteolysis syndrome MONDO:0011316 osteosclerotic chondrodysplasia, lethal, with intracellular inclusions osteosclerotic chondrodysplasia, lethal, with intracellular inclusions MONDO:0011317 microcephaly, severe, with skeletal anomalies including posterior rib-Gap defects microcephaly, severe, with skeletal anomalies including posterior rib-Gap defects MONDO:0011318 Tonoki syndrome short stature, brachydactyly, nail dysplasia and intellectual disability short stature, brachydactyly, nail dysplasia and mental retardation Tonoki syndrome https://rarediseases.info.nih.gov/diseases/10219/tonoki-syndrome MONDO:0011320 An extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit. Giuffre-Tsukahara syndrome Giuffré-Tsukahara syndrome Tsukahara syndrome Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and intellectual disability Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation radioulnar synostosis with microcephaly, short stature, scoliosis, and intellectual disability radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation radioulnar synostosis-microcephaly-scoliosis syndrome MONDO:0011321 expansile bone lesions expansile bone lesions MONDO:0011322 Oroacral syndrome, Verloes-Koulischer type Oroacral syndrome, Verloes-Koulischer type MONDO:0011323 arhinia, choanal atresia, and microphthalmia BAMS BOSMA arhinia microphthalmia syndrome Bosma arhinia microphthalmia syndrome arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism arhinia, choanal atresia, and microphthalmia MONDO:0011325 Fanconi anemia caused by mutations of the FANCF gene. This gene encodes a polypeptide with homology to the prokaryotic RNA-binding protein ROM. FANCF Fanconi Anemia, complementation group type F Fanconi anemia complementation group F Fanconi anemia complementation group type F Fanconi anemia, complementation group F Fanconi anemia complementation group F MONDO:0011326 Adult-onset citrullinemia type II is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. The condition chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. These signs and symptoms can be life-threatening. The signs and symptoms appear during adulthood and are triggered by certain medications, infections, surgery, and alcohol intake.The features of adult-onset type II citrullinemia may also develop in people who as infants had a liver disorder called neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). In many cases, the signs and symptoms of NICCD resolve within a year. Years or even decades later, however, some of these people develop the characteristic features of adult-onset type II citrullinemia.adult-onset citrullinemia type II is caused by mutations in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern. https://github.com/monarch-initiative/mondo/issues/4521 citrullinemia, adult-onset type II citrullinemia, type II, adult-onset CTLN2 adult-onset citrullinemia type 2 adult-onset citrullinemia type II citrin deficiency citrullinemia type 2 citrullinemia type II citrullinemia, type II, ADULT-onset TODO - merge into parent citrullinemia, type II, adult-onset https://rarediseases.info.nih.gov/diseases/10215/adult-onset-citrullinemia-type-ii MONDO:0011327 Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss. neuronal intranuclear inclusion disease Niid neuronal intranuclear hyaline inclusion disease neuronal intranuclear inclusion disease https://rarediseases.info.nih.gov/diseases/3971/neuronal-intranuclear-inclusion-disease MONDO:0011330 Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances. SCA10 spinocerebellar ataxia type 10 spinocerebellar ataxia 10 spinocerebellar ataxia type 10 MONDO:0011331 Congenital chylothorax is a rare, potentially life-threatening neonatal condition characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. Congenital chylothorax is the most common cause of pleural effusion in neonates; it can occur primarily due to developmental anomalies of the lymphatic duct or can be associated with chromosomal anomalies (e.g. Noonan syndrome, Turner syndrome and Down syndrome), hydrops fetalis, mediastinal neuroblastoma and other congenital malformations. https://github.com/monarch-initiative/mondo/issues/4069 chylothorax, congenital hydrothorax, congenital congenital chylothorax https://rarediseases.info.nih.gov/diseases/10156/chylothorax-congenital MONDO:0011332 https://github.com/monarch-initiative/mondo/issues/4069 Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin MONDO:0011333 light fixation seizure syndrome Lfss M syndrome light fixation seizure syndrome MONDO:0011334 Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias. https://github.com/monarch-initiative/mondo/issues/4948 LMS limb-mammary syndrome mammary hypoplasia, ectrodactyly, and other hand/foot anomalies limb-mammary syndrome MONDO:0011335 A rare disorder caused by mutation in the KIF22 gene. It is characterized by short stature, midface retrusion, progressive knee malalignment, generalized ligamentous laxity, and mild spinal deformity. https://github.com/monarch-initiative/mondo/issues/4948 SEMD-MD SEMDJL2 spondyloepimetaphyseal dysplasia with joint laxicity, Hall type spondyloepimetaphyseal dysplasia with joint laxity type 2 spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type spondyloepimetaphyseal dysplasia with JOINT laxity type 2 spondyloepimetaphyseal dysplasia with JOINT laxity, type 2 spondyloepimetaphyseal dysplasia with Joint laxity, Hall type spondyloepimetaphyseal dysplasia with Joint laxity, leptodactylic type spondyloepimetaphyseal dysplasia with Joint laxity, type 2 spondyloepimetaphyseal dysplasia with multiple dislocations Hall type spondyloepimetaphyseal dysplasia with multiple dislocations leptodactylic type spondyloepimetaphyseal dysplasia with multiple dislocations https://rarediseases.info.nih.gov/diseases/9866/spondyloepimetaphyseal-dysplasia-with-multiple-dislocations MONDO:0011336 Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STX11 gene. FHL4 HLH4 HPLH4 STX11 genetic hemophagocytic lymphohistiocytosis familial hemophagocytic lymphohistiocytosis 4 familial hemophagocytic lymphohistiocytosis type 4 genetic hemophagocytic lymphohistiocytosis caused by mutation in STX11 hemophagocytic lymphohistiocytosis, familial, type 4 Hlh4 Hplh4 hemophagocytic lymphohistiocytosis, familial, 4 familial hemophagocytic lymphohistiocytosis 4 https://rarediseases.info.nih.gov/diseases/9929/hemophagocytic-lymphohistiocytosis-familial-4 MONDO:0011337 Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the PRF1 gene. FHL2 HLH2 HPLH2 PRF1 genetic hemophagocytic lymphohistiocytosis familial hemophagocytic lymphohistiocytosis type 2 genetic hemophagocytic lymphohistiocytosis caused by mutation in PRF1 hemophagocytic lymphohistiocytosis, familial, type 2 Hlh2 Hplh2 hemophagocytic lymphohistiocytosis, familial, 2 familial hemophagocytic lymphohistiocytosis 2 https://rarediseases.info.nih.gov/diseases/9922/hemophagocytic-lymphohistiocytosis-familial-2 MONDO:0011338 An inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID). Omenn syndrome combined immunodeficiency with hypereosinophilia reticuloendotheliosis familial with eosinophilia reticuloendotheliosis, familial, with eosinophilia severe combined immunodeficiency with hypereosinophilia Omenn syndrome https://rarediseases.info.nih.gov/diseases/8198/omenn-syndrome MONDO:0011339 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the WASHC5 gene. SPG8 WASHC5 hereditary spastic paraplegia autosomal dominant spastic paraplegia 8 autosomal dominant spastic paraplegia type 8 hereditary spastic paraplegia caused by mutation in WASHC5 hereditary spastic paraplegia type 8 spastic paraplegia 8 spastic paraplegia 8, autosomal dominant hereditary spastic paraplegia 8 MONDO:0011340 https://github.com/monarch-initiative/mondo/issues/4069 tracheobronchial stenosis, congenital congenital tracheal stenosis https://rarediseases.info.nih.gov/diseases/12008/congenital-tracheal-stenosis MONDO:0011341 microcephaly, facial abnormalities, micromelia, and intellectual disability microcephaly, facial abnormalities, micromelia, and mental retardation microcephaly, facial abnormalities, micromelia, and intellectual disability MONDO:0011342 SLC35A1-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage. CDG syndrome type IIf CDG-IIf CDG2F CMP-sialic acid transporter deficiency SLC35A1-CDG SLC35A1-congenital disorder of glycosylation carbohydrate deficient glycoprotein syndrome type IIf congenital disorder of glycosylation type 2f congenital disorder of glycosylation type IIf CDG IIf SLC35A1-CDG (CDG-IIf) congenital disorder of glycosylation, type IIf SLC35A1-congenital disorder of glycosylation MONDO:0011343 follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts MONDO:0011344 parotitis, juvenile recurrent parotitis, juvenile recurrent MONDO:0011345 facial dysmorphism, selective tooth agenesis, and choroid calcification facial dysmorphism, selective tooth agenesis, and choroid calcification MONDO:0011346 Type II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic. XAN2 XDH and AOX dual deficiency xanthine dehydrogenase and aldehyde oxidase, combined deficiency of xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency type 2 xanthinuria type II xanthinuria xanthine dehydrogenase and aldehyde oxidase combined deficiency of xanthinuria type 2 xanthinuria, type 2 xanthinuria, type II xanthinuria type II https://rarediseases.info.nih.gov/diseases/5620/xanthinuria-type-2 MONDO:0011347 craniosynostosis with ectopia lentis craniosynostosis with ectopia lentis MONDO:0011348 A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits. isolated polydactyly (disease) nonsyndromic polydactyly nonsyndromic polydactyly (disease) Extra digits isolated polydactyly polydactylia supernumerary digits Editor note: Orphanet calls this Polydactyly, but this is implicitly the non-syndromic form due to placement in the ORDO hierarchy non-syndromic polydactyly MONDO:0011349 osteoma of cranial vault, familial osteoma of cranial vault, familial MONDO:0011350 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH9 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA17 MYH9 autosomal dominant nonsyndromic deafness autosomal dominant deafness 17 autosomal dominant nonsyndromic deafness 17 autosomal dominant nonsyndromic deafness caused by mutation in MYH9 autosomal dominant nonsyndromic deafness type 17 deafness, autosomal dominant 17 deafness, autosomal dominant nonsyndromic sensorineural 17 deafness, autosomal dominant type 17 nonsyndromic hereditary deafness DFNA17 cochleosaccular degeneration late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration autosomal dominant nonsyndromic hearing loss 17 MONDO:0011351 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB21 TECTA autosomal recessive nonsyndromic deafness autosomal recessive deafness 21 autosomal recessive nonsyndromic deafness 21 autosomal recessive nonsyndromic deafness caused by mutation in TECTA autosomal recessive nonsyndromic deafness caused by mutation in tecta autosomal recessive nonsyndromic deafness type 21 deafness, autosomal recessive 21 deafness, autosomal recessive type 21 tecta autosomal recessive nonsyndromic deafness autosomal recessive nonsyndromic hearing loss 21 MONDO:0011352 neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia MONDO:0011353 atrial septal defect, secundum, with various cardiac and Noncardiac defects atrial septal defect, secundum, with various cardiac and Noncardiac defects MONDO:0011354 situs inversus totalis with cystic dysplasia of kidneys and pancreas situs inversus, cystic dysplastic kidney and pancreas, bowed lower limbs,severe intrauterine growth retardation, and oligohydramnios situs inversus totalis with cystic dysplasia of kidneys and pancreas https://rarediseases.info.nih.gov/diseases/8567/situs-inversus-totalis-with-cystic-dysplasia-of-kidneys-and-pancreas MONDO:0011355 Any cone-rod dystrophy in which the cause of the disease is a mutation in the RIMS1 gene. CORD7 RIMS1 cone-rod dystrophy cone-rod dystrophy 7 cone-rod dystrophy caused by mutation in RIMS1 cone-rod dystrophy type 7 cone-rod dystrophy 7 MONDO:0011356 exostosis, Dupuytren subungual Dupuytren subungual exostosis subungual exostoses exostosis, Dupuytren subungual https://rarediseases.info.nih.gov/diseases/8280/dupuytren-subungual-exostosis MONDO:0011357 eccrine syringofibroadenomatosis with eyelid abnormalities eccrine syringofibroadenomatosis with eyelid abnormalities MONDO:0011358 blue nevi, familial multiple blue nevi, familial multiple MONDO:0011359 Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism. https://github.com/monarch-initiative/mondo/issues/4948 AFND Toriello syndrome acromelic frontonasal dysostosis acromelic frontonasal dysplasia frontonasal dysplasia acromelic acromelic frontonasal dysostosis https://rarediseases.info.nih.gov/diseases/2393/frontonasal-dysplasia-acromelic MONDO:0011360 An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S554 and D7S2459 in the chromosome region 7q31. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB14 autosomal recessive deafness 14 autosomal recessive nonsyndromic deafness 14 autosomal recessive nonsyndromic deafness type 14 deafness, autosomal recessive 14 autosomal recessive nonsyndromic hearing loss 14 MONDO:0011361 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 prostate cancer/brain cancer susceptibility prostate cancer/brain cancer susceptibility, somatic Capb Pcbc prostate cancer/brain cancer susceptibility MONDO:0011362 ADMERF Edstrom myopathy Edström myopathy HIBM-ERF HMERF HMERF-ERF distal myopathy with early respiratory muscle involvement hereditary inclusion body myopathy with early respiratory failure hereditary proximal myopathy with early respiratory failure myofibrillar myopathy with early respiratory failure myopathy, distal, with early respiratory failure, autosomal dominant myopathy, proximal, with early respiratory muscle involvement myopathy, myofibrillar, 9, with early respiratory failure https://rarediseases.info.nih.gov/diseases/12591/hereditary-proximal-myopathy-with-early-respiratory-failure MONDO:0011363 https://github.com/monarch-initiative/mondo/issues/4521 diabetes mellitus, noninsulin-dependent, 3 diabetes mellitus, noninsulin-dependent, type 3 type 2 diabetes mellitus 3 NIDDM3 noninsulin-dependent diabetes mellitus 3 diabetes mellitus, noninsulin-dependent, 3 MONDO:0011364 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the STRC gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB16 STRC autosomal recessive nonsyndromic deafness autosomal recessive deafness 16 autosomal recessive nonsyndromic deafness 16 autosomal recessive nonsyndromic deafness caused by mutation in STRC autosomal recessive nonsyndromic deafness type 16 deafness, autosomal recessive 16 deafness, autosomal recessive type 16 autosomal recessive nonsyndromic hearing loss 16 MONDO:0011365 Blepharophimosis-intellectual disability syndrome, SBBYS type is characterised by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested. https://github.com/monarch-initiative/mondo/issues/4521 Ohdo syndrome, SBBYS variant SBBYSS SBBYSS syndrome Say-Barber-Biesecker-Young-Simpson syndrome blepharophimosis - intellectual disability syndrome, SBBYS type hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome Young-Simpson syndrome blepharophimosis - intellectual disability syndrome, SBBYS type MONDO:0011366 A neoplasm that arises from the ovary and originates from germ cells. Representative examples include teratoma, embryonal carcinoma, yolk sac tumor, and dysgerminoma. germ cell neoplasm of ovary germ cell neoplasm of the ovary germ cell tumor of ovary germ cell tumor of the ovary ovarian germ cell neoplasm ovarian germ cell tumor ovary germ cell tumor ovarian germ cell cancer Editor note: we make this equivalent to DOID:2156, despite the fact the DOID has 'cancer' in the label it's placement in the ontology is consistent with the broader 'tumor' ovarian germ cell tumor MONDO:0011367 A hereditary disorder characterized by disproportionate short stature, a relatively large head, and a long triangular face early in life. This phenotype later evolves to one with in which the head is relatively small, the mandible is large and pointy. The affected individuals have normal cognitive abilities and lack any neurological deficits. Other typical features include a prominent nose, a voice with an unusual high-pitched sound, relatively small ears, curved digits (clinodactyly), short bones in fingers and toes (brachydactyly), small hands, underdeveloped (hypoplastic) fingernails, a waddling gait, and sparse hair post-pubertally. acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia acrodysplasia with ossification abnormalities, short stature and fibular hypoplasia Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia https://rarediseases.info.nih.gov/diseases/10076/acrodysplasia-with-ossification-abnormalities-short-stature-and-fibular-hypoplasia MONDO:0011368 A papillary carcinoma of the thyroid gland measuring 10mm or less in diameter. The survival rates of patients with this type of carcinoma are the same with those of the normal population. papillary Microcarcinoma of the thyroid papillary Microcarcinoma of the thyroid gland papillary thyroid Microcarcinoma papillary thyroid gland Microcarcinoma thyroid gland papillary Microcarcinoma papillary thyroid Microcarcinoma MONDO:0011369 Any familial hypercholesterolemia in which the cause of the disease is a mutation in the PCSK9 gene. https://github.com/monarch-initiative/mondo/issues/4521 PCSK9 familial hypercholesterolemia familial hypercholesterolemia caused by mutation in PCSK9 hypercholesterolemia, autosomal dominant, 3 hypercholesterolemia, autosomal dominant, type 3 hypercholesterolemia, familial, 3 low density lipoprotein cholesterol level QTL 1 Fh3 HCHOLA3 low density lipoprotein cholesterol level quantitative trait locus 1 hypercholesterolemia, autosomal dominant, 3 MONDO:0011370 Any Stargardt disease in which the cause of the disease is a mutation in the PROM1 gene. PROM1 Stargardt disease Stargardt disease 4 Stargardt disease caused by mutation in PROM1 Stargardt disease type 4 STGD4 Stargardt disease 4 MONDO:0011371 An instance of hydroa vacciniforme that is caused by an inherited modification of the individual's genome. hereditary hydroa vacciniforme hydroa vacciniforme, familial familial hydroa vacciniforme hydroa vacciniforme, familial https://rarediseases.info.nih.gov/diseases/10079/hydroa-vacciniforme-familial MONDO:0011372 microcephaly with simplified gyral pattern microcephaly with simplified gyral pattern MONDO:0011373 https://github.com/monarch-initiative/mondo/issues/4882 urinary tract infections, recurrent, susceptibility to urinary tract infections, recurrent, susceptibility to MONDO:0011374 An autosomal recessive condition caused by mutation(s) in the LDLRAP1 gene, encoding low density lipoprotein receptor adaptor protein 1. The phenotype is similar to that of familial hypercholesterolemia, but generally considered to be a milder form of hypercholesterolemia. ARH familial autosomal recessive hypercholesterolemia ARH1 ARH2 autosomal recessive hypercholesterolemia 1 autosomal recessive hypercholesterolemia 2 FHCB1 FHCB1, formerly FHCB2 FHCB2, formerly hypercholesterolemia, autosomal recessive hypercholesterolemia, autosomal recessive, 1 hypercholesterolemia, autosomal recessive, 1, formerly hypercholesterolemia, autosomal recessive, 2 hypercholesterolemia, autosomal recessive, 2, formerly hypercholesterolemia, familial, 4 MONDO:0011375 brittle bone disorder brittle bone disorder MONDO:0011376 https://github.com/monarch-initiative/mondo/issues/4521 VF1 ventricular fibrillation, familial, 1 ventricular fibrillation, paroxysmal familial, 1 ventricular fibrillation, paroxysmal familial, type 1 IVF ventricular fibrillation during myocardial infarction, susceptibility to ventricular fibrillation, paroxysmal familial, type 1 MONDO:0011377 An autosomal dominant condition caused by mutation(s) in the SCN5A gene, encoding sodium channel protein type 5 subunit alpha. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death. LQT3 SCN5A long QT syndrome long QT syndrome 3 long QT syndrome caused by mutation in SCN5A long QT syndrome type 3 long QT syndrome 2/3, digenic long QT syndrome 3, acquired, susceptibility to long QT syndrome 3/6, digenic long QT syndrome 3 https://rarediseases.info.nih.gov/diseases/3286/long-qt-syndrome-3 MONDO:0011380 A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes ``foamy'' aspect. CACH childhood ataxia with central nervous system hypomyelination childhood ataxia with diffuse central nervous system hypomyelination leukoencephalopathy with vanishing white matter myelinosis centralis diffusa vanishing white matter leukodystrophy Cree leukoencephalopathy CACH syndrome CACH/VWM CACH/VWM syndrome Cree leukoencehalopathy VWM childhood ataxia with central nervous system hypomyelination/vanishing white matter childhood ataxia with central nervous system hypomyelinization leukoencephalopathy with vanishing WHITE matter ovarioleukodystrophy vanishing White matter leukodystrophy vanishing White matter leukodystrophy with ovarian failure vanishing white matter disease leukoencephalopathy with vanishing white matter MONDO:0011381 Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia. inclusion body beta-thalassemia thalassemia-beta, dominant inclusion-body beta-thalassemia, dominant inclusion body type dyserythropoietic Anemia, congenital, Irish or Weatherall type dominant beta-thalassemia MONDO:0011382 Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur. Hb SC disease Hb-S/Hb-C disease Hb-SS disease without crisis Hemoglobin S disease without crisis drepanocytosis hemoglobin SC disease sickle cell anemia sickle cell disease sickle-cell/Hb-C disease without crisis sickling disorder due to Hemoglobin S HbS disease Hemoglobin S disease sickle cell anemia MONDO:0011383 A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but incomplete penetrance. It is caused by a mutation in the CASP10 (caspase-10) gene that leads to defective Fas-induced apoptosis. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma. https://github.com/monarch-initiative/mondo/issues/4521 ALPS-CASP10 ALPS2A CASP10 autoimmune lymphoproliferative syndrome autoimmune lymphoproliferative syndrome caused by mutation in CASP10 autoimmune lymphoproliferative syndrome type IIA autoimmune lymphoproliferative syndrome, type II autoimmune lymphoproliferative syndrome-CASP10 variant type 2 ALPS type 2 autoimmune lymphoproliferative syndrome autoimmune lymphoproliferative syndrome, type 2 autoimmune lymphoproliferative syndrome, type 2A autoimmune lymphoproliferative syndrome, type IIA autoimmune lymphoproliferative syndrome type 2A MONDO:0011384 https://github.com/monarch-initiative/mondo/issues/4882 hypertension, essential, susceptibility to, 1 hypertension, essential, susceptibility to, type 1 Hyt1 hypertension, essential, susceptibility to, 1 MONDO:0011385 Any disease of a degenerative nature that affects the intervertebral disc. https://github.com/monarch-initiative/mondo/issues/5633 IDD degenerative disc disease degenerative disorder of intervertebral disk intervertebral Disc Degeneration intervertebral Disc degenerative disease intervertebral Disc degenerative disorder intervertebral disc degeneration intervertebral disc disease intervertebral disk degenerative disorder vertebral Disc degenerative disease vertebral Disc degenerative disorder vertebral disc disease cervical disc degenerative disease lumbar disc degeneration intervertebral disc degenerative disorder MONDO:0011386 Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the VEGFA gene. https://github.com/monarch-initiative/mondo/issues/4521 VEGFA microvascular complications of diabetes, susceptibility microvascular complications of diabetes 1 microvascular complications of diabetes, susceptibility caused by mutation in VEGFA microvascular complications of diabetes, susceptibility to, 1 microvascular complications of diabetes, susceptibility to, type 1 MVCD1 end-stage renal disease, diabetic, susceptibility to microvascular complications of diabetes, protection against microvascular complications of diabetes, susceptibility to nephropathy, diabetic, susceptibility to neuropathy, diabetic, susceptibility to nonproliferative retinopathy, diabetic, susceptibility to proliferative retinopathy, diabetic, susceptibility to microvascular complications of diabetes, susceptibility to, 1 MONDO:0011387 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 PSORS4 psoriasis 4, susceptibility to psoriasis susceptibility 4 psoriasis 4, susceptibility to MONDO:0011389 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q24.3. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA16 autosomal dominant deafness 16 autosomal dominant nonsyndromic deafness 16 autosomal dominant nonsyndromic deafness type 16 deafness, autosomal dominant 16 autosomal dominant nonsyndromic hearing loss 16 MONDO:0011390 Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the TRPC6 gene. FSGS2 TRPC6 focal segmental glomerulosclerosis focal segmental glomerulosclerosis 2 focal segmental glomerulosclerosis caused by mutation in TRPC6 focal segmental glomerulosclerosis type 2 glomerulosclerosis, focal segmental, 2 focal segmental glomerulosclerosis 2 MONDO:0011391 Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions. MLC Vacuolating megalencephalic leukoencephalopathy with subcortical cysts Van der Knaap syndrome megalencephalic leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts type 1 megalencephaly-cystic leukodystrophy syndrome MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1 megalencephaly-cystic leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts https://rarediseases.info.nih.gov/diseases/3445/megalencephalic-leukoencephalopathy-with-subcortical-cysts MONDO:0011392 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11q25-qter. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB20 autosomal recessive deafness 20 autosomal recessive nonsyndromic deafness 20 autosomal recessive nonsyndromic deafness type 20 deafness, autosomal recessive 20 autosomal recessive nonsyndromic hearing loss 20 MONDO:0011393 Any ypoalphalipoproteinemia in which the cause of the disease is a mutation in the ABCA1 gene. https://github.com/monarch-initiative/mondo/issues/4521 HDL deficiency, familial, 1 hypoalphalipoproteinemia, familial FHA FHD HDL cholesterol, Low serum HDLD familial HDL deficiency high density lipoprotein deficiency hypoalphalipoproteinemia, primary hypoalphalipoproteinemia, primary, 1 MONDO:0011395 Any cone-rod dystrophy in which the cause of the disease is a mutation in the ABCA4 gene. https://github.com/monarch-initiative/mondo/issues/5693 ABCA4 cone-rod dystrophy CORD3 cone-rod dystrophy 3 cone-rod dystrophy caused by mutation in ABCA4 cone-rod dystrophy type 3 cone-rod dystrophy 3 https://rarediseases.info.nih.gov/diseases/10653/cone-rod-dystrophy-3 MONDO:0011396 A diffuse palmoplantar keratoderma, characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission. https://github.com/monarch-initiative/mondo/issues/2114 Camisa disease Vohwinkel syndrome with ichthyosis keratoderma hereditarium mutilans with ichthyosis keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome loricrin keratoderma Vohwinkel syndrome, variant form mutilating keratoderma with ichthyosis loricrin keratoderma MONDO:0011397 Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia. ADCA-DN syndrome autosomal dominant cerebellar ataxia, deafness and narcolepsy ADCA-DN ADCADN autosomal dominant cerebellar ataxia, deafness, and narcolepsy autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome cerebellar ataxia, deafness, and narcolepsy, autosomal dominant autosomal dominant cerebellar ataxia, deafness and narcolepsy https://rarediseases.info.nih.gov/diseases/12372/autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy MONDO:0011398 Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus. DEB, pruriginosa DEB-Pr dystrophic epidermolysis bullosa pruriginosa pruriginous dystrophic epidermolysis bullosa Deb, pruriginosa epidermolysis bullosa pruriginosa dystrophic epidermolysis bullosa pruriginosa MONDO:0011399 Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles. https://github.com/monarch-initiative/mondo/issues/4521 Alpha thalassaemia alpha thalassemia alpha-thalassemia thalassemia, alpha- thalassemias, alpha- A-thalassemia alpha thalassemia MONDO:0011400 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TTN gene. CMD1G TTN familial isolated dilated cardiomyopathy cardiomyopathy, dilated, type 1G dilated cardiomyopathy type 1G familial isolated dilated cardiomyopathy caused by mutation in TTN cardiomyopathy, dilated, 1G dilated cardiomyopathy 1G MONDO:0011401 https://github.com/monarch-initiative/mondo/issues/4521 AD15 Alzheimer disease 15 Alzheimer disease without neurofibrillary tangles Alzheimer disease-15 Alzheimer's disease 15 Alzheimer's disease type 15 Alzheimer's disease without neurofibrillary tangles Alzheimer disease without neurofibrillary tangles MONDO:0011402 Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/5588 CCFDN congenital cataracts-facial dysmorphism-neuropathy syndrome cataract, congenital, with Facial Dysmorphism and neuropathy congenital cataracts, facial dysmorphism, and neuropathy congenital cataracts-facial dysmorphism-neuropathy syndrome MONDO:0011403 Any left ventricular noncompaction in which the cause of the disease is a mutation in the DTNA gene. https://github.com/monarch-initiative/mondo/issues/4521 DTNA left ventricular noncompaction left ventricular noncompaction 1 left ventricular noncompaction 1, with or without congenital heart defects left ventricular noncompaction caused by mutation in DTNA left ventricular noncompaction type 1 LVNC1 left ventricular noncompaction 1 with or without congenital heart defects left ventricular noncompaction 1 MONDO:0011404 Caronte Car Editor note: TODO check Caronte MONDO:0011405 A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. It has material basis in mutation in the C16ORF57 gene on chromosome 16q13. poikiloderma with neutropenia poikiloderma with neutropenia, Clericuzio type Clericuzio type poikiloderma with neutropenia PN poikiloderma with neutropenia Clericuzio type poikiloderma with neutropenia, Clericuzio-type poikiloderma with neutropenia MONDO:0011406 https://github.com/monarch-initiative/mondo/issues/4069 cholesteatoma, congenital cholesteatoma, congenital MONDO:0011407 https://github.com/monarch-initiative/mondo/issues/4069 facial paresis, hereditary congenital, 2 HCFP2 Mobius syndrome 3 Mobius syndrome 3, formerly Moebius syndrome 3 Moebius syndrome 3, formerly facial paresis, hereditary congenital, 2 MONDO:0011408 Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case. KIF5A hereditary spastic paraplegia SPG10 autosomal dominant spastic paraplegia 10 autosomal dominant spastic paraplegia type 10 hereditary spastic paraplegia caused by mutation in KIF5A hereditary spastic paraplegia type 10 autosomal dominant spastic paraplegia spastic paraplegia 10 spastic paraplegia 10 with or without peripheral neuropathy spastic paraplegia 10, autosomal dominant hereditary spastic paraplegia 10 MONDO:0011409 https://github.com/monarch-initiative/mondo/issues/4521 hepatic fibrosis susceptibility due to schistosoma mansoni infection hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection Sm2 hepatic fibrosis, Severe, susceptibility to, due to Schistosoma japonicum infection hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection MONDO:0011410 Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly MONDO:0011411 Chudley-McCullough syndrome CMCS deafness, autosomal recessive 82 deafness, autosomal recessive 82, formerly deafness, bilateral sensorineural, and hydrocephalus due to foramen of Monro obstruction deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts Chudley-McCullough syndrome MONDO:0011412 https://github.com/monarch-initiative/mondo/issues/5671 FENIB encephalopathy, familial, with Collins bodies encephalopathy, familial, with neuroserpin inclusion bodies familial encephalopathy with neuroserpin inclusion bodies https://rarediseases.info.nih.gov/diseases/10037/familial-encephalopathy-with-neuroserpin-inclusion-bodies MONDO:0011413 Any cataract (disease) in which the cause of the disease is a mutation in the CRYAA gene. CRYAA cataract (disease) CTRCT9 cataract (disease) caused by mutation in CRYAA cataract 9 multiple types with or without microcornea CATC1 autosomal recessive congenital cataract 1 cataract 9, multiple types cataract 9, multiple types, with or without microcornea cataract, autosomal dominant cataract, autosomal recessive congenital 1 cataract 9 multiple types MONDO:0011414 Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane. https://github.com/monarch-initiative/mondo/issues/4521 Peters anomaly (disease) Peters anomaly Peters anomaly (disease) Peters congenital glaucoma anterior segment dysgenesis 5, multiple subtypes ASGD5 anterior segment dysgenesis 5 Peters anomaly MONDO:0011415 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the SPATA7 gene. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 LCA3 Leber congenital amaurosis 3 Leber congenital amaurosis caused by mutation in SPATA7 Leber congenital amaurosis type 3 SPATA7 Leber congenital amaurosis retinitis pigmentosa, juvenile, autosomal recessive amaurosis congenita of Leber, type 3 retinitis pigmentosa, juvenile, Spata7-related Leber congenital amaurosis 3 https://rarediseases.info.nih.gov/diseases/9661/leber-congenital-amaurosis-3 MONDO:0011416 generalized epilepsy with febrile seizures plus, type 1 GEFSP1 Gefs+, type 1 generalized epilepsy with febrile seizures plus, type 1 MONDO:0011417 Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin. HFE3 TFR2 hereditary hemochromatosis TFR2-related hemochromatosis hemochromatosis due to defect in transferrin receptor 2 hemochromatosis type 3 hereditary hemochromatosis caused by mutation in TFR2 hemochromatosis, type 3 hemochromatosis type 3 https://rarediseases.info.nih.gov/diseases/10093/hemochromatosis-type-3 MONDO:0011418 DYX3 dyslexia, susceptibility to, 3 dyslexia, susceptibility to, 3 MONDO:0011419 camera-Marugo-Cohen syndrome camera Marugo Cohen syndrome obesity, intellectual disability, body asymmetry, and muscle weakness obesity, mental retardation, body asymmetry, and muscle weakness camera-Marugo-Cohen syndrome https://rarediseases.info.nih.gov/diseases/8413/camera-marugo-cohen-syndrome MONDO:0011420 Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone. short stature due to partial growth hormone receptor deficiency GHIP Growth hormone deficiency, isolated, partial Growth hormone, insensitivity to, partial growth hormone insensitivity, partial increased responsiveness to Growth hormone short stature due to partial GHR deficiency MONDO:0011421 Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATPAF2 gene. mitochondrial complex V deficiency ATPAF2 mitochondrial proton-transporting ATP synthase complex deficiency MC5DN1 mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATPAF2 Complex 5 mitochondrial respiratory chain deficiency mitochondrial Complex 5 (ATP synthase) deficiency, Atpaf2 type mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 1 mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 https://rarediseases.info.nih.gov/diseases/1459/mitochondrial-complex-v-deficiency MONDO:0011422 Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features. https://github.com/monarch-initiative/mondo/issues/4521 AR pRTA proximal renal tubular acidosis with ocular abnormalities and intellectual disability proximal renal tubular acidosis, autosomal recessive renal tubular acidosis, proximal, with ocular abnormalities RTA, proximal, autosomal recessive renal tubular acidosis, proximal, with ocular abnormalities and intellectual disability renal tubular acidosis, proximal, with ocular abnormalities and mental retardation autosomal recessive proximal renal tubular acidosis MONDO:0011423 Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed. https://github.com/monarch-initiative/mondo/issues/4521 beta-sarcoglycanopathy LGMD2E SGCB autosomal recessive limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCB limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency muscular dystrophy, limb-girdle, autosomal recessive 4 muscular dystrophy, limb-girdle, type 2E Beta-sarcoglycan limb-girdle muscular dystrophy limb-girdle muscular dystrophy type 2E muscular dystrophy limb-girdle with beta-sarcoglycan deficiency autosomal recessive limb-girdle muscular dystrophy type 2E MONDO:0011424 Carney's triad is a rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas. Carney triad gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma Carney triad https://rarediseases.info.nih.gov/diseases/10924/carney-triad MONDO:0011425 A dilated cardiomyopathy that has material basis in variation in the chromosome region 2q14-q22. CMD1H dilated cardiomyopathy type 1H dilated cardiomyopathy with conduction defect cardiomyopathy, dilated, 1H cardiomyopathy, dilated, with conduction defect dilated cardiomyopathy 1H MONDO:0011426 An adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms. https://github.com/monarch-initiative/mondo/issues/4521 cerebellar ataxia aceruloplasminemia hereditary ceruloplasmin deficiency hypoceruloplasminemia, hereditary ceruloplasmin deficiency familial apoceruloplasmin deficiency hemosiderosis, systemic, due to aceruloplasminemia hypoceruloplasminemia systemic hemosiderosis due to aceruloplasminemia aceruloplasminemia https://rarediseases.info.nih.gov/diseases/9499/aceruloplasminemia MONDO:0011427 https://github.com/monarch-initiative/mondo/issues/4882 Ascaris lumbricoides infection, susceptibility to ascariasis, susceptibility to Ascaris lumbricoides infection, susceptibility to MONDO:0011428 Any EEC syndrome in which the cause of the disease is a mutation in the TP63 gene. https://github.com/monarch-initiative/mondo/issues/4948 EEC syndrome 3 EEC syndrome caused by mutation in TP63 EEC3 TP63 EEC syndrome ectrodactyly, ectodermal dysplasia, and cleft Lip/palate syndrome type 3 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome type 3 ectrodactyly, ectodermal dysplasia, and cleft LIP/palate syndrome 3 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 MONDO:0011429 Juvenile idiopathic arthritis (JIA) is the term used to describe a group of inflammatory articular disorders of unknown cause that begin before the age of 16 and last over 6 weeks. The term juvenile idiopathic arthritis was chosen to signify the absence of any known mechanism underlying the disorder and to highlight the necessity of excluding other types of arthritis occurring in well defined diseases (in particular arthritis occurring in association with infectious, inflammatory and haematooncologic diseases). https://github.com/monarch-initiative/mondo/issues/4521 JIA Juvenile idiopathic arthritis juvenile idiopathic arthritis juvenile rheumatoid arthritis rheumatoid arthritis, systemic juvenile, susceptibility to acute juvenile rheumatoid arthritis monarticular juvenile rheumatoid arthritis pauciarticular juvenile arthritis pauciarticular onset juvenile chronic arthritis systemic juvenile rheumatoid arthritis juvenile chronic arthritis juvenile chronic polyarthritis rheumatoid arthritis, systemic juvenile juvenile idiopathic arthritis MONDO:0011430 A cataract that has material basis in heterozygous mutation in the CRYGC gene on chromosome 2q33. https://github.com/monarch-initiative/mondo/issues/3904 Coppock-like cataract dusty cataract pulverulent cataract pulverulent cataract MONDO:0011431 A genetic disorder of connective tissue caused by mutations in the FBN1 gene. Connective tissue is the material between the cells of the body that gives tissues form and strength. Symptoms include mitral valve prolapse, nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome. Treatment is based on the individuals symptoms. MASS phenotype MASS syndrome Mitral valve prolapse, Aortic enlargement, Skin and Skeletal findings OCTD overlap connective tissue disease MASS syndrome https://rarediseases.info.nih.gov/diseases/8489/mass-syndrome MONDO:0011432 BMRS type V BMRS, Verloes type blepharophimosis-intellectual disability syndrome type V blepharophimosis with facial and genital anomalies and intellectual disability blepharophimosis with facial and genital anomalies and mental retardation blepharophimosis-intellectual disability syndrome, Verloes type blepharophimosis-mental retardation syndrome, Verloes type blepharophimosis - intellectual disability syndrome, Verloes type MONDO:0011433 anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome anemia, congenital hypoplastic, with multiple congenital anomalies/mental retardation syndrome anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome MONDO:0011434 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 PSORS5 psoriasis 5, susceptibility to psoriasis susceptibility 5 psoriasis 5, susceptibility to MONDO:0011435 microcephaly 2, primary, autosomal recessive, with or without cortical malformations MCPH2 microcephaly 2, primary, autosomal recessive, with or without cortical malformations MONDO:0011436 Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features. DSMA1 IGHMBP2 spinal muscular atrophy SIANRF SMARD1 autosomal recessive distal spinal muscular atrophy 1 autosomal recessive distal spinal muscular atrophy type 1 autosomal recessive spinal muscular atrophy with respiratory distress dHMN6 dSMA1 diaphragmatic spinal muscular atrophy distal hereditary motor neuropathy type 6 distal-HMN type 6 severe infantile axonal neuropathy with respiratory failure type 1 spinal muscular atrophy caused by mutation in IGHMBP2 spinal muscular atrophy with respiratory distress type 1 spinal muscular atrophy, distal, autosomal recessive, type 1 HMN 6 HMN VI Hmn6 neuronopathy, Severe infantile axonal, with respiratory failure neuronopathy, distal hereditary motor, type 6 neuronopathy, distal hereditary motor, type VI severe infantile axonal neuropathy with respiratory failure spinal muscular atrophy with respiratory distress 1 spinal muscular atrophy, diaphragmatic spinal muscular atrophy, distal, autosomal recessive, 1 autosomal recessive distal spinal muscular atrophy 1 MONDO:0011437 microcephaly 4, primary, autosomal recessive MCPH4 microcephaly 4, primary, autosomal recessive MONDO:0011438 An inflammatory process of the sebaceous glands which is characterized by comedones, nodules, papules and/or pustules on the skin. acne (disease) acne acne (disease) acne varioliformis acne vulgaris frontalis acne acne, adult acne MONDO:0011439 Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported. SCA12 spinocerebellar ataxia type 12 spinocerebellar ataxia 12 spinocerebellar ataxia type 12 MONDO:0011440 https://github.com/monarch-initiative/mondo/issues/4882 hypertension, essential, susceptibility to, 2 hypertension, essential, susceptibility to, type 2 Hyt2 hypertension, essential, susceptibility to, 2 MONDO:0011441 Complex regional pain syndrome type 1 (CRPS1) is a form of complex regional pain syndrome in which the pain is disproportionate to any known inciting event and is characterized by continuous pain, allodynia, or hyperalgesia as well as edema, coloration (changes in skin blood flow), or abnormal sudomotor activity in the region of pain. Onset of CRPS1 symptoms may occur within a few days to a month after an injury or trauma to the affected limb. Algodystrophy CRPS I CRPS1 Complex regional pain syndrome I RND RSDS complex regional pain syndrome type 1 reflex neurovascular dystrophy reflex sympathetic dystrophy reflex sympathetic dystrophy syndrome complex regional pain syndrome type 1 MONDO:0011442 Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER2 gene. FASPS1 PER2 advanced sleep phase syndrome advanced sleep phase syndrome caused by mutation in PER2 advanced sleep phase syndrome type 1 advanced sleep phase syndrome, familial, type 1 familial advanced sleep phase syndrome 1 advanced sleep phase syndrome, familial, 1 advanced sleep phase syndrome 1 MONDO:0011443 Any febrile seizures, familial in which the cause of the disease is a mutation in the ADGRV1 gene. ADGRV1 febrile seizures, familial febrile seizures, familial caused by mutation in ADGRV1 febrile seizures, familial, 4 febrile seizures, familial, type 4 FEB4 convulsions, familial febrile, 4 febrile seizures, familial, 4 MONDO:0011444 Any Duane retraction syndrome in which the cause of the disease is a mutation in the CHN1 gene. CHN1 Duane retraction syndrome Duane retraction syndrome 2 Duane retraction syndrome caused by mutation in CHN1 Duane retraction syndrome type 2 DURS2 Duane syndrome type 2 Duane retraction syndrome 2 https://rarediseases.info.nih.gov/diseases/9966/duane-syndrome-type-2 MONDO:0011445 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the SPG11 gene. https://github.com/monarch-initiative/mondo/issues/5588 HSP-TCC Nakamura-Osame syndrome SPG11 SPG11 hereditary spastic paraplegia autosomal recessive spastic paraplegia 11 autosomal recessive spastic paraplegia complicated with thin corpus callosum autosomal recessive spastic paraplegia type 11 autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum hereditary spastic paraplegia caused by mutation in SPG11 hereditary spastic paraplegia type 11 spastic paraplegia-intellectual disability-thin corpus callosum syndrome Nakamura Osame syndrome hereditary spastic paraplegia mental impairment and thin corpus callosum spastic paraplegia - intellectual deficit - thin corpus callosum spastic paraplegia 11 spastic paraplegia 11, autosomal recessive spastic paraplegia, autosomal recessive, complicated, with thin corpus callosum spastic paraplegia, autosomal recessive, with mental impairment and thin corpus callosum hereditary spastic paraplegia 11 MONDO:0011446 https://github.com/monarch-initiative/mondo/issues/4069 myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders MONDO:0011448 https://github.com/monarch-initiative/mondo/issues/4521 FPLD3 PPARG-related FPLD familial partial lipodystrophy type 3 familial partial lipodystrophy associated with PPARG mutations insulin resistance, severe, digenic lipodystrophy, familial partial, associated with Pparg mutations lipodystrophy, familial partial, type 3 PPARG-related familial partial lipodystrophy MONDO:0011449 Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive. https://github.com/monarch-initiative/mondo/issues/4985 Salla disease sialic acid storage disease SD sialuria, Finnish type Salla disease https://rarediseases.info.nih.gov/diseases/4754/salla-disease MONDO:0011450 Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA1 gene. https://github.com/monarch-initiative/mondo/issues/4521 BRCA1 hereditary breast ovarian cancer syndrome breast-ovarian cancer, familial, 1, multifactorial breast-ovarian cancer, familial, susceptibility to, 1 breast-ovarian cancer, familial, susceptibility to, type 1 hereditary breast ovarian cancer syndrome caused by mutation in BRCA1 BROVCA1 breast cancer, familial, susceptibility to, 1 ovarian cancer, familial, susceptibility to, 1 susceptibility to familial breast-ovarian cancer 1 breast-ovarian cancer, familial, susceptibility to, 1 MONDO:0011451 Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the SCO2 gene. https://github.com/monarch-initiative/mondo/issues/4521 SCO2 fatal infantile encephalocardiomyopathy cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 1 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 fatal infantile encephalocardiomyopathy caused by mutation in SCO2 mitochondrial complex IV deficiency, nuclear type 2 CEMCOX1 cytochrome C oxidase deficiency, fatal infantile, with cardioencephalomyopathy cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 MONDO:0011452 Any hypotrichosis in which the cause of the disease is a mutation in the LIPH gene. https://github.com/monarch-initiative/mondo/issues/4521 HYPT7 LIPH hypotrichosis Lah2 hypotrichosis 7 hypotrichosis caused by mutation in LIPH hypotrichosis type 7 hypotrichosis, localized, autosomal recessive 2 total Mari type hypotrichosis, woolly hair, autosomal recessive 2 with or without hypotrichosis Mari type alopecia universalis congenita Wh/Ht alopecia universalis congenita, Mari type hypotrichosis, autosomal recessive hypotrichosis, total, Mari type total hypotrichosis, Mari type woolly hair, autosomal recessive 2, with or without hypotrichosis hypotrichosis 7 MONDO:0011453 ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia MONDO:0011454 Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant. patent arterial duct-bicuspid aortic valve-hand anomalies syndrome patent ductus arteriosus and bicuspid aortic valve with hand anomalies patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome MONDO:0011455 lissencephaly, familial, with cleft palate and cerebellar hypoplasia lissencephaly, familial, with cleft palate and cerebellar hypoplasia MONDO:0011456 Any nephronophthisis in which the cause of the disease is a mutation in the NPHP3 gene. NPH3 NPHP3 NPHP3 nephronophthisis (disease) nephronophthisis (disease) caused by mutation in NPHP3 nephronophthisis 3 nephronophthisis type 3 Nph3 nephronophthisis 3 MONDO:0011457 An autosomal recessive condition caused by mutation(s) in the MRE11A gene, encoding double-strand break repair protein MRE11. It is characterized by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia. https://github.com/monarch-initiative/mondo/issues/5682 ATLD ataxia - telangiectasia-like disorder ataxia-telangiectasia-like disorder type 1 ATLD1 ataxia-telangiectasia-like disorder 1 ataxia-telangiectasia-like disorder MONDO:0011458 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the AIPL1 gene. https://github.com/monarch-initiative/mondo/issues/4521 cone-rod dystrophy AIPL1 Leber congenital amaurosis LCA4 Leber congenital amaurosis 4 Leber congenital amaurosis caused by mutation in AIPL1 Leber congenital amaurosis type 4 amaurosis congenita of Leber, type 4 cone-rod dystrophy, Aipl1-related retinitis pigmentosa, juvenile retinitis pigmentosa, juvenile, Aipl1-related Leber congenital amaurosis 4 https://rarediseases.info.nih.gov/diseases/9662/leber-congenital-amaurosis-4 MONDO:0011459 Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TMEM43 gene. ARVC5 ARVD5 TMEM43 arrhythmogenic right ventricular cardiomyopathy arrhythmogenic right ventricular cardiomyopathy 5 arrhythmogenic right ventricular cardiomyopathy caused by mutation in TMEM43 arrhythmogenic right ventricular dysplasia 5 arrhythmogenic right ventricular dysplasia type 5 arrhythmogenic right ventricular dysplasia, familial, type 5 familial arrhythmogenic right ventricular dysplasia 5 arrhythmogenic right ventricular dysplasia, familial, 5 arrhythmogenic right ventricular dysplasia 5 MONDO:0011460 An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12. ARVC6 ARVD6 arrhythmogenic right ventricular cardiomyopathy 6 arrhythmogenic right ventricular dysplasia type 6 familial arrhythmogenic right ventricular dysplasia 6 arrhythmogenic right ventricular dysplasia, familial, 6 arrhythmogenic right ventricular dysplasia 6 MONDO:0011461 Any febrile seizures, familial in which the cause of the disease is a mutation in the SCN1A gene. SCN1A febrile seizures, familial febrile seizures, familial caused by mutation in SCN1A generalized epilepsy with febrile seizures plus, type 2 GEFSP2 Gefs+, type 2 febrile seizures, familial, 3A generalized epilepsy with febrile seizures plus, type 2 MONDO:0011462 A rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin. familial recurrent arthritis fra papa papa syndrome Papas pyogenic STERILE arthritis, pyoderma gangrenosum, and acne pyogenic arthritis, pyoderma gangrenosum and acne pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne pyogenic arthritis-pyoderma gangrenosum-acne syndrome MONDO:0011463 A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination. polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive MONDO:0011464 Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs. SCA11 spinocerebellar ataxia type 11 spinocerebellar ataxia 11 spinocerebellar ataxia type 11 MONDO:0011465 skin infundibulocystic basal cell carcinoma basal cell carcinoma with follicular differentiation basal cell carcinoma, infundibulocystic infundibulocystic basal cell carcinoma https://rarediseases.info.nih.gov/diseases/9788/basal-cell-carcinoma-infundibulocystic MONDO:0011466 Welander distal myopathy (WDM) is a distal myopathy, characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors. WDM Welander distal myopathy Welander distal myopathy, Swedish type distal myopathy, Swedish type muscular dystrophy, distal, late-onset, autosomal dominant myopathy, distal, Swedish distal myopathy, Welander type MONDO:0011468 Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic. HMSNP hereditary motor and sensory neuropathy, proximal type HMSNO hereditary motor and sensory neuropathy, proximal type, formerly neuropathy, hereditary motor and sensory, Okinawa type hereditary motor and sensory neuropathy, Okinawa type MONDO:0011469 Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 CAMT congenital amegakaryocytic thrombocytopenia congenital amegakaryocytic thrombocytopenic purpura thrombocytopenia, congenital amegakaryocytic amegakaryocytic thrombocytopenia, congenital thrombocytopenia congenital amegakaryocytic congenital amegakaryocytic thrombocytopenia https://rarediseases.info.nih.gov/diseases/640/congenital-amegakaryocytic-thrombocytopenia MONDO:0011470 hyperlipidemia, combined, 2 hyperlipidemia, combined, type 2 hyperlipidemia, familial combined, 2 hyplip2 hyperlipidemia, combined, 2 MONDO:0011471 An inflammatory bowel disease that has material basis in variation in the chromosome region 6p21.3. IBD3 inflammatory bowel disease 3 inflammatory bowel disease type 3 inflammatory bowel disease 3 MONDO:0011472 Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized superficial erosions and less commonly blistering. McGrath syndrome ectodermal dysplasia-skin fragility syndrome Mcgrath syndrome ectodermal dysplasia - skin fragility syndrome ectodermal dysplasia skin fragility syndrome ectodermal dysplasia/skin fragility syndrome epidermolysis bullosa simplex due to plakophilin deficiency MONDO:0011473 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LCA5 gene. https://github.com/monarch-initiative/mondo/issues/4069 LCA5 LCA5 Leber congenital amaurosis Leber congenital amaurosis 5 Leber congenital amaurosis caused by mutation in LCA5 Leber congenital amaurosis type 5 amaurosis congenita of Leber, type 5 Leber congenital amaurosis 5 https://rarediseases.info.nih.gov/diseases/9983/leber-congenital-amaurosis-5 MONDO:0011474 Any progressive familial heart block in which the cause of the disease is a mutation in the TRPM4 gene. PFHB1B TRPM4 progressive familial heart block progressive familial heart block caused by mutation in TRPM4 Pfhbib heart block progressive familial type 1B progressive familial heart block type 1B progressive familial heart block, type 1B progressive familial heart block, type IB progressive familial heart block type IB MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported. CMT4B2 Charcot-Marie-Tooth disease type 4 caused by mutation in SBF2 Charcot-Marie-Tooth disease type 4B2 Charcot-Marie-Tooth neuropathy type 4B2 SBF2 Charcot-Marie-Tooth disease type 4 autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2 CMT 4B2 Charcot Marie Tooth disease type 4B2 Charcot-Marie-Tooth disease, type 4B2 Charcot-Marie-Tooth disease, type 4B2, with early-onset glaucoma Charcot-Marie-Tooth disease, with focally folded myelin sheaths, autosomal recessive, type 4B2 Charcot-Marie-Tooth neuropathy, type 4B2 Charcot-Marie-Tooth neuropathy, type 4B2, with early-onset glaucoma Charcot-Marie-Tooth disease type 4B2 https://rarediseases.info.nih.gov/diseases/9200/charcot-marie-tooth-disease-type-4b2 MONDO:0011476 Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections. https://github.com/monarch-initiative/mondo/issues/4521 BLS, type I BLSI Bare lymphocyte syndrome type 1 HLA CLASS I deficiency bare lymphocyte syndrome type I bare lymphocyte syndrome, type I, due to TAP2 deficiency immunodeficiency by defective expression of HLA class 1 immunodeficiency by defective expression of HLA class type 1 BARE lymphocyte syndrome, type I BLS type 1 Bare lymphocyte syndrome, type 1 Bls, type 1 HLA Class 1 deficiency MHC class I deficiency MONDO:0011477 Any tooth agenesis in which the cause of the disease is a mutation in the PAX9 gene. PAX9 tooth agenesis tooth agenesis caused by mutation in PAX9 tooth agenesis, selective, 3 tooth agenesis, selective, type 3 STHAG3 hypodontia/oligodontia 3 tooth agenesis, selective, 3 MONDO:0011478 growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia Roca syndrome Roca-Weidemann syndrome growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia MONDO:0011479 A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart. https://github.com/obophenotype/human-phenotype-ontology/issues/7613 POTS familial orthostatic tachycardia due to norepinephrine transporter deficiency irritable heart orhtostatic intolerance orthostatic intolerance due to NET deficiency postural tachycardia syndrome due to NET deficiency soldiers heart Soldiers heart neurocirculatory asthenia orthostatic intolerance postural orthostatic tachycardia syndrome MONDO:0011480 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the ACTG1 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 ACTG1 autosomal dominant nonsyndromic deafness DFNA20 DFNA26 autosomal dominant deafness 20 autosomal dominant nonsyndromic deafness 20 autosomal dominant nonsyndromic deafness caused by mutation in ACTG1 autosomal dominant nonsyndromic deafness type 20 deafness, autosomal dominant 20 deafness, autosomal dominant 20/26 deafness, autosomal dominant type 20 autosomal dominant nonsyndromic hearing loss 20 MONDO:0011481 A form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal. https://github.com/monarch-initiative/mondo/issues/4948 CRS2 MSX2-related craniosynostosis Warman-Mulliken-Hayward syndrome craniosynostosis 2 craniosynostosis type 2 craniosynostosis, Warman type Warman Mulliken Hayward syndrome craniosynostosis Warman type craniosynostosis 2 MONDO:0011482 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DES gene. CMD1I DES familial isolated dilated cardiomyopathy cardiomyopathy, dilated, type 1I dilated cardiomyopathy type 1I familial isolated dilated cardiomyopathy caused by mutation in DES cardiomyopathy, dilated, 1I dilated cardiomyopathy 1I MONDO:0011483 polycystic bone disease Pcbd polycystic bone disease https://rarediseases.info.nih.gov/diseases/8571/polycystic-bone-disease MONDO:0011484 Polymorphic ventricular tachycardia induced by adrenergic stress. It is inherited in an autosomal dominant pattern and is caused by mutations in the ryanodine receptor 2 (RYR2) gene. https://github.com/monarch-initiative/mondo/issues/4521 CVPT1 catecholaminergic polymorphic ventricular tachycardia 1 catecholaminergic polymorphic ventricular tachycardia type 1 ventricular tachycardia, catecholaminergic polymorphic, 1 CPVT1 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy ventricular tachycardia, stress-induced polymorphic catecholaminergic polymorphic ventricular tachycardia 1 MONDO:0011485 An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has material basis in homozygous mutation in the CYP4F22 gene on chromosome 19p13. https://github.com/monarch-initiative/mondo/issues/4069 ARCI5 autosomal recessive congenital ichthyosis 5 autosomal recessive congenital ichthyosis type 5 autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis ichthyosis, congenital, autosomal recessive type 5 LI3, formerly NNCI ichthyosis congenita 3 ichthyosis congenita III ichthyosis lamellar 3 ichthyosis, NONLAMELLAR and NONERYTHRODERMIC, congenital, autosomal recessive ichthyosis, Nonlamellar and Nonerythrodermic, congenital, autosomal recessive ichthyosis, congenital, autosomal recessive 5 ichthyosis, lamellar, 3 ichthyosis, lamellar, 3, formerly lamellar ichthyosis, type 3 type 3 lamellar ichthyosis autosomal recessive congenital ichthyosis 5 https://rarediseases.info.nih.gov/diseases/9734/ichthyosis-lamellar-3 MONDO:0011486 Congenital muscular dystrophy type 1B is a rare, genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation. https://github.com/monarch-initiative/mondo/issues/4069 CMD1B MDC1B congenital muscular dystrophy type 1B muscular dystrophy, congenital, 1B congenital muscular dystrophy 1B MONDO:0011487 Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy. HDL3 Huntington disease-like 3 Huntington disease-like type 3 Huntington disease-like neurodegenerative disorder, autosomal recessive Huntington disease-like 3 MONDO:0011488 Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK5RAP2 gene. CDK5RAP2 autosomal recessive primary microcephaly autosomal recessive primary microcephaly caused by mutation in CDK5RAP2 microcephaly 3, primary, autosomal recessive MCPH3 microcephaly 3, primary, autosomal recessive MONDO:0011489 Autosomal dominant spastic paraplegia type 12 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus. RTN2 hereditary spastic paraplegia SPG12 autosomal dominant spastic paraplegia 12 autosomal dominant spastic paraplegia type 12 hereditary spastic paraplegia caused by mutation in RTN2 hereditary spastic paraplegia type 12 spastic paraplegia 12 spastic paraplegia 12, autosomal dominant hereditary spastic paraplegia 12 MONDO:0011490 Diffuse panbronchiolitis is a rare chronic inflammatory obstructive pulmonary disease primarily affecting the respiratory bronchioles throughout both lungs and inducing sinobronchial infection. Onset occurs in the second to fifth decade of life and manifests by chronic cough, exertional dyspnea, and sputum production. Most patients also have chronic paranasal sinusitis DPb PBLT panbronchiolitis, diffuse diffuse panbronchiolitis https://rarediseases.info.nih.gov/diseases/8526/diffuse-panbronchiolitis MONDO:0011491 https://github.com/monarch-initiative/mondo/issues/2543 https://github.com/monarch-initiative/mondo/issues/4521 EIG7 epilepsy, idiopathic generalized, susceptibility to, 7 epilepsy, juvenile myoclonic myoclonic epilepsy, juvenile, 2 epilepsy, idiopathic generalized, susceptibility to, 7 MONDO:0011492 mandibulofacial dysostosis syndrome, Bauru type mandibulofacial dysostosis syndrome, Bauru type MONDO:0011493 Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases). Stickler syndrome type 2 is caused by mutations in the COL11A1 gene (1p21). https://github.com/monarch-initiative/mondo/issues/4948 COL11A1 Stickler syndrome Stickler syndrome caused by mutation in COL11A1 Stickler syndrome type II STICKLER syndrome, type II STL 2 STL2 Stickler syndrome, beaded vitreous type Stickler syndrome, type 2 Stickler syndrome, vitreous type 2 Stickler syndrome type 2 https://rarediseases.info.nih.gov/diseases/5020/stickler-syndrome-type-2 MONDO:0011494 hyaluronan metabolism, defect type 1N hyaluronan metabolism, defect IN hyaluronan metabolism, defect 1N MONDO:0011496 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk. https://github.com/monarch-initiative/mondo/issues/4948 Namaqualand hip dysplasia OSCDP osteoarthritis with mild chondrodysplasia mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis MONDO:0011497 Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence. NAIC NORTH American Indian childhood cirrhosis hereditary North American Indian childhood cirrhosis MONDO:0011498 A schizophrenia that has material basis in a mutation of DISC1 on chromosome 1q42.2. https://github.com/monarch-initiative/mondo/issues/4521 SCZD9 schizophrenia 9 schizophrenia 9, susceptibility to schizophrenia type 9 schizophrenia 9 with or without an affective disorder schizophrenia susceptibility locus, chromosome 1Q42-related schizophrenia 9 MONDO:0011499 Okamoto syndrome is characterised by congenital hydronephrosis, intellectual deficit, growth retardation, cleft palate, generalised hypotonia and a characteristic face. Cardiac anomalies have also been reported. To date, 6 cases have been reported. https://github.com/monarch-initiative/mondo/issues/5588 Okamoto syndrome congenital hydronephrosis with cleft palate, characteristic facies, hypotonia, and intellectual disability congenital hydronephrosis with cleft palate, characteristic facies, hypotonia, and mental retardation hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and intellectual disability hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation Okamoto syndrome https://rarediseases.info.nih.gov/diseases/4064/okamoto-syndrome MONDO:0011500 Becker nevus syndrome is characterized by the presence of a Becker nevus in association withunderdevelopment (hypoplasia)of the breast or other skin-related, muscular, or skeletal defects, all of which usually involve the same side of the bodyas the nevus (ipsilateral). Specific signs and symptoms in addition to the nevus may include ipsilateral breast hypoplasia;skeletal abnormalities such ashypoplasia of the shoulder girdle, scoliosis, fused ribs, and ipsilateral shortness of the arm; and several other features. Thecondition is thought to be sporadic (occurring in individuals with no history of the condition in the family). Treatment varies depending upon the specific symptoms present and the extent of the condition in the affected individual. Becker nevus syndrome pigmentary hairy epidermal nevus hairy epidermal nevus syndrome Becker nevus syndrome https://rarediseases.info.nih.gov/diseases/3856/becker-nevus-syndrome MONDO:0011501 Skeletal dysplasia with wormian bone-multiple fractures-dentinogenesis imperfecta is a skeletal disorder, reported in three patients to date, characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999. Suarez-Stickler syndrome cortical defects wormian bones and dentinogenesis imperfecta cortical defects, WORMIAN bones, and dentinogenesis imperfecta wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia https://rarediseases.info.nih.gov/diseases/10290/cortical-defects-wormian-bones-and-dentinogenesis-imperfecta MONDO:0011502 Any Wolfram syndrome in which the cause of the disease is a mutation in the CISD2 gene. CISD2 Wolfram syndrome WFS2 Wolfram syndrome 2 Wolfram syndrome caused by mutation in CISD2 Wolfram syndrome type 2 WOLFRAM syndrome 2 Wolfram syndrome 2 MONDO:0011503 Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency. CORTRD1 H6PD cortisone reductase deficiency apparent cortisone reductase deficiency cortisone reductase deficiency 1 cortisone reductase deficiency caused by mutation in H6PD cortisone reductase deficiency type 1 hexose-6-phosphate dehydrogenase deficiency cortisone reductase deficiency 1 MONDO:0011504 NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae. MHAC hydranencephaly and microcephaly microhydranencephaly NDE1-related microhydranencephaly MONDO:0011505 Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the ANGPTL3 gene. ANGPTL3 hypobetalipoproteinemia FHBL2 combined familial hypolipidemia familial hypobetalipoproteinemia 2 familial hypobetalipoproteinemia type 2 hypobetalipoproteinemia caused by mutation in ANGPTL3 hypobetalipoproteinemia, familial, type 2 hypobetalipoproteinemia, familial, 2 hypolipidemia, familial, combined familial hypobetalipoproteinemia 2 MONDO:0011506 https://github.com/monarch-initiative/mondo/issues/4521 FIME familial infantile myoclonus epilepsy myoclonic epilepsy, infantile, familial Eim myoclonic epilepsy, familial infantile familial infantile myoclonic epilepsy MONDO:0011507 https://github.com/monarch-initiative/mondo/issues/4069 diabetes mellitus, congenital autoimmune diabetes mellitus, congenital autoimmune MONDO:0011508 https://github.com/monarch-initiative/mondo/issues/4521 lymphoma, follicular, somatic lymphoma, non-Hodgkin lymphoma, non-Hodgkin, familial lymphoma, non-Hodgkin, somatic non-Hodgkin lymphoma lymphoma, non-Hodgkin, familial MONDO:0011509 low density lipoprotein cholesterol, mild elevation of Ldlc, mild elevation of low density lipoprotein cholesterol, mild elevation of MONDO:0011510 Bohring-Opitz syndrome is characterised by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported. https://github.com/monarch-initiative/mondo/issues/5588 Bohring syndrome Bohring-Opitz syndrome Bos syndrome C-like syndrome Oberklaid-Danks syndrome Opitz trigonocephaly-like syndrome BOHRING-Opitz syndrome BOPS Bohring-Opitz syndrome https://rarediseases.info.nih.gov/diseases/10140/bohring-opitz-syndrome MONDO:0011511 clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia Chzam clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia MONDO:0011512 Brooke-Spiegler syndrome (BSS) is an inherited predisposition syndrome presenting with skin appendage tumors, namely cylindromas, spiradenomas and trichoepitheliomas. A minority of patients can also get major and minor salivary glands neoplasms, usually membranous basal cell adenoma. Brooke-Spiegler syndrome CYLD cutaneous syndrome BRSS Bss Spiegler-Brooke syndrome Some consider Brooke-Spiegler syndrome (BSS), familial cylindromatosis (FC), and multiple familial trichoepithelioma (MFT) as phenotypic variations of a single defect, see PMID:16922728 Brooke-Spiegler syndrome MONDO:0011513 Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology MONDO:0011514 Tricuspid atresia is (TA) a rare congenital heart malformation characterized by the congenital agenesis of tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular). TA is associated with normally related or transposed great vessels (TGV), an obligatory interatrial connection that is crucial for survival (patent foramen ovale or atrial septal defect, osteum secondum type), ventricular septal defect (in 90% cases), pulmonary outflow obstruction - pulmonary atresia, stenosis or hypoplasia (usually in TA with normally related vessels but also in TGV), aortic coarctation and/or aortic arch interruption (usually in TA with TGV). tricuspid atresia (disease) congenital atresia of tricuspid valve tricuspid atresia tricuspid atresia (disease) tricuspid valve atresia congenital agenesis of the tricuspid valve tricuspid atresia MONDO:0011516 early response to neural induction gene Erni early response to neural induction gene MONDO:0011517 Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery. https://github.com/monarch-initiative/mondo/issues/4521 early-onset hypertension with exacerbation in pregnancy hypertension due to gain-of-function mutations in the mineralocorticoid receptor hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy hypertension, early-onset, autosomal dominant, with Severe exacerbation in pregnancy hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy pseudohyperaldosteronism type 2 MONDO:0011518 Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner. Most cases result from new (de novo) mutations that occur only in an egg or sperm cell, or just after conception. Treatment is symptomatic and supportive and may include special education classes and speech and occupational therapies aimed at increasing motor functioning and language. https://github.com/monarch-initiative/mondo/issues/5588 Wiedemann-Steiner syndrome hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome A syndrome of abnormal facies, short stature, and psychomotor retardation WDSTS Wiedemann Grosse Dibbern syndrome hairy elbows, short stature, Facial Dysmorphism, and developmental delay Wiedemann-Steiner syndrome https://rarediseases.info.nih.gov/diseases/5565/wiedemann-steiner-syndrome MONDO:0011519 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SIX1 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA 23 DFNA23 SIX1 autosomal dominant nonsyndromic deafness autosomal dominant deafness 23 autosomal dominant nonsyndromic deafness 23 autosomal dominant nonsyndromic deafness caused by mutation in SIX1 autosomal dominant nonsyndromic deafness type 23 deafness, autosomal dominant 23 deafness, autosomal dominant nonsyndromic sensorineural 23 deafness, autosomal dominant type 23 autosomal dominant nonsyndromic hearing loss 23 MONDO:0011520 SLEB2 susceptibility to systemic lupus erythematosus 2 systemic lupus erythematosus, susceptibility to, 2 systemic lupus erythematosus, susceptibility to, type 2 systemic lupus erythematosus, susceptibility to, 2 MONDO:0011521 An inflammatory bowel disease that has material basis in variation in the chromosome region 1p36. IBD7 inflammatory bowel disease 7 inflammatory bowel disease type 7 inflammatory bowel disease 7 MONDO:0011522 A hereditary spastic paraplegia that has material basis in variation in the chromosome region 3q27-q28. SPG14 autosomal recessive spastic paraplegia 14 autosomal recessive spastic paraplegia type 14 hereditary spastic paraplegia type 14 spastic paraplegia 14 spastic paraplegia 14, autosomal recessive hereditary spastic paraplegia 14 MONDO:0011523 BBS6 Bardet-Biedl syndrome 6 Bardet-Biedl syndrome type 6 Bardet-Biedl syndrome 6 https://rarediseases.info.nih.gov/diseases/10205/bardet-biedl-syndrome-6 MONDO:0011524 Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly. DALD Dianzani autoimmune lymphoproliferative disease Dianzani autoimmune lymphoproliferative syndrome Dianzani form of autoimmune lymphoproliferative disease autoimmune lymphoproliferative syndrome without FAS mutations Dianzani autoimmune lymphoproliferative disease MONDO:0011525 https://github.com/monarch-initiative/mondo/issues/4521 CNC2 Carney Myxoma-endocrine Complex, type 2 Carney complex, type 2 Carney complex, type II Carney complex type 2 MONDO:0011527 Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity. https://github.com/monarch-initiative/mondo/issues/4521 CMT4E Charcot-Marie-Tooth disease type 4E Charcot-Marie-Tooth neuropathy type 4E autosomal recessive congenital hypomyelinating neuropathy autosomal recessive congenital hypomyelinating or amyelinating neuropathy hypomyelinating neuropathy, congenital, 1 neuropathy, congenital hypomyelinating, 1 CHN CHN1 CMT 4E Charcot Marie Tooth disease type 4E Charcot-Marie-Tooth disease, type 4E Charcot-Marie-Tooth neuropathy, type 4E NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE congenital hypomyelinating neuropathy (CHN) congenital hypomyelination neuropathy hypomyelination, Severe congenital neuropathy, congenital hypomyelinating neuropathy, congenital hypomyelinating or AMYELINATING, autosomal recessive neuropathy, congenital hypomyelinating, autosomal dominant Not part of the OMIM series 118220 but maybe it should be? Alternate titles CHARCOT-MARIE-Tooth DISEASE, TYPE 4E; CMT4E and CHARCOT-MARIE-Tooth NEUROPATHY, TYPE 4E. Charcot-Marie-Tooth disease type 4E https://rarediseases.info.nih.gov/diseases/6170/congenital-hypomyelination-neuropathy MONDO:0011528 A hyper-IgM syndrome characterized by the absence of immunoglobulin class switch recombination, the lack of immunoglobulin somatic hypermutations, and lymph node hyperplasia caused by the presence of giant germinal centers. AICDA hyper-IgM syndrome Activation-induced cytidine deaminase deficiency HIGM2 activation-induced cytidine deaminase deficiency aid deficiency hyper-IgM syndrome caused by mutation in AICDA hyper-IgM syndrome type 2 hyper IgM syndrome 2 hyper-IgM syndrome 2 immunodeficiency with hyper IgM type 2 immunodeficiency with hyper-IgM type 2 immunodeficiency with hyper-IgM, type 2 hyper-IgM syndrome type 2 https://rarediseases.info.nih.gov/diseases/10578/immunodeficiency-with-hyper-igm-type-2 MONDO:0011529 Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia. SCA13 spinocerebellar ataxia type 13 autosomal dominant cerebellar ataxia with intellectual disability autosomal dominant cerebellar ataxia with mental retardation cerebellar ataxia, autosomal dominant with intellectual disability cerebellar ataxia, autosomal dominant with mental retardation spinocerebellar ataxia 13 spinocerebellar ataxia type 13 MONDO:0011530 Mesomelic dysplasia, Savarirayan type is characterised by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported. https://github.com/monarch-initiative/mondo/issues/4948 mesomelic dysplasia with absent fibulas and triangular tibias mesomelic dysplasia, Savarirayan type triangular tibia-fibular aplasia syndrome mesomelic dysplasia Savarirayan type triangular tibia and fibular aplasia mesomelic dysplasia, Savarirayan type https://rarediseases.info.nih.gov/diseases/10584/mesomelic-dysplasia-savarirayan-type MONDO:0011531 NS2 Noonan syndrome 2 Noonan syndrome type 2 Noonan syndrome autosomal recessive Noonan syndrome, autosomal recessive autosomal recessive Noonan syndrome Noonan syndrome 2 https://rarediseases.info.nih.gov/diseases/10698/noonan-syndrome-2 MONDO:0011532 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the HSPD1 gene. HSPD1 hereditary spastic paraplegia SPG13 autosomal dominant spastic paraplegia 13 hereditary spastic paraplegia caused by mutation in HSPD1 hereditary spastic paraplegia type 13 autosomal dominant spastic paraplegia type 13 spastic paraplegia 13 spastic paraplegia 13, autosomal dominant hereditary spastic paraplegia 13 MONDO:0011533 An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has material basis in homozygous mutation in the CHSY1 gene. https://github.com/monarch-initiative/mondo/issues/4948 preaxial brachydactyly syndrome, TEMTAMY type temtamy preaxial brachydactyly syndrome TEMTAMY preaxial brachydactyly syndrome TPBS intellectual disability syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies preaxial brachydactyly syndrome, Temtamy type temtamy preaxial brachydactyly syndrome https://rarediseases.info.nih.gov/diseases/9679/temtamy-preaxial-brachydactyly-syndrome MONDO:0011534 Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies. https://github.com/monarch-initiative/mondo/issues/4985 CMT4G Charcot-Marie-Tooth disease type 4 caused by mutation in HK1 Charcot-Marie-Tooth neuropathy type 4G HK1 Charcot-Marie-Tooth disease type 4 HMSNR autosomal recessive Charcot-Marie-Tooth disease type 4G hereditary motor and sensory neuropathy Russe type hereditary motor and sensory neuropathy, Russe type Charcot-Marie-Tooth disease, autosomal recessive, type 4G Charcot-Marie-Tooth disease, type 4G Charcot-Marie-Tooth neuropathy, type 4G neuropathy, hereditary motor and sensory, Russe type Charcot-Marie-Tooth disease type 4G MONDO:0011535 Any split hand-foot malformation in which the cause of the disease is a mutation in the TP63 gene. https://github.com/monarch-initiative/mondo/issues/4948 SHFM4 TP63 split hand-foot malformation split hand-foot malformation caused by mutation in TP63 split hand-foot malformation type 4 split-hand/foot malformation type 4 split-hand/foot malformation 4 split hand-foot malformation 4 MONDO:0011536 OPA4 optic atrophy 4 optic atrophy 4 MONDO:0011537 An autosomal dominant disease characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has material basis in heterozygous mutation in the PTEN gene on chromosome 10q23. macrocephaly-intellectual disability-autism syndrome macrocephaly/autism syndrome macrocephaly-autism syndrome MONDO:0011538 frontoocular syndrome frontoocular syndrome MONDO:0011539 Amish nemaline myopathy is a type of nemaline myopathy (NM) only observed in several families of the Amish community. ANM Amish nemaline myopathy NEM5 TNNT1 nemaline myopathy nemaline myopathy 5 nemaline myopathy 5, Amish type nemaline myopathy caused by mutation in TNNT1 nemaline myopathy type 5 nemaline myopathy, Amish type nemaline myopathy, caused by mutation in the troponin t1 gene nemaline myopathy 5 MONDO:0011540 Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive ataxia, dysarthria and nystagmus. SCA14 spinocerebellar ataxia type 14 spinocerebellar ataxia 14 spinocerebellar ataxia type 14 MONDO:0011541 An extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure. CMD1J EYA4 familial dilated cardiomyopathy autosomal dominant dilated cardiomyopathy with sensorineural hearing loss cardiomyopathy, dilated, type 1J dilated cardiomyopathy 1J dilated cardiomyopathy type 1J familial dilated cardiomyopathy caused by mutation in EYA4 neurosensory deafness with dilated cardiomyopathy neurosensory hearing loss with dilated cardiomyopathy sensorineural deafness with dilated cardiomyopathy sensorineural hearing loss with dilated cardiomyopathy cardiomyopathy, dilated, 1J cardiomyopathy, dilated, with sensorineural hearing loss, autosomal dominant dilated cardiomyopathy 1J MONDO:0011542 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 PSORS6 psoriasis 6, susceptibility to psoriasis susceptibility 6 psoriasis 6, susceptibility to MONDO:0011544 Any paraganglioma in which the cause of the disease is a mutation in the SDHC gene. SDHC paraganglioma paraganglioma caused by mutation in SDHC paragangliomas 3 paragangliomas type 3 PGL3 SDHC-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 3) glomus tumors, familial, 3 paragangliomas 3 https://rarediseases.info.nih.gov/diseases/10545/paragangliomas-3 MONDO:0011545 Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNB2 gene. CHRNB2 autosomal dominant nocturnal frontal lobe epilepsy ENFL3 autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNB2 autosomal dominant nocturnal frontal lobe epilepsy type 3 epilepsy, nocturnal frontal lobe, type 3 nocturnal frontal lobe epilepsy 3 epilepsy, nocturnal frontal lobe, 3 autosomal dominant nocturnal frontal lobe epilepsy 3 MONDO:0011546 DTGA2 heterotaxy, visceral, 2, autosomal transposition of the great arteries, dextro-looped 2 HTX2 Htx heterotaxy, visceral, 2, autosomal MONDO:0011547 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CHMP4B gene. CHMP4B early-onset non-syndromic cataract CTRCT31 early-onset non-syndromic cataract caused by mutation in CHMP4B CPP3 CTPP3 posterior polar cataract 3 cataract 31, multiple types cataract, posterior polar, 3 cataract 31 multiple types MONDO:0011548 cerebral palsy, ataxic, autosomal recessive Acp ataxic cerebral palsy cerebral palsy ataxic cerebral palsy, ataxic, autosomal recessive https://rarediseases.info.nih.gov/diseases/10451/cerebral-palsy-ataxic MONDO:0011549 Any hypotrichosis in which the cause of the disease is a mutation in the APCDD1 gene. HHS APCDD1 hypotrichosis HTS HYPT1 hereditary generalized hypotrichosis simplex hypotrichosis 1 hypotrichosis caused by mutation in APCDD1 hypotrichosis type 1 hypotrichosis simplex, generalized, hereditary hypotrichosis 1 MONDO:0011550 fibromatosis, gingival, with hypertrichosis and intellectual disability fibromatosis, gingival, with hypertrichosis and mental retardation fibromatosis, gingival, with hypertrichosis and intellectual disability MONDO:0011551 Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy. https://github.com/monarch-initiative/mondo/issues/4521 DYT5b Dopa-responsive dystonia, autosomal recessive Segawa syndrome, recessive autosomal recessive Segawa syndrome autosomal recessive dopa-responsive dystonia dopa-responsive dystonia, autosomal recessive tyrosine hydroxylase-deficient dopa-responsive dystonia DOPA responsive dystonia, autosomal recessive Parkinsonism, infantile, autosomal recessive Segawa syndrome, autosomal recessive dystonia, DOPA responsive, autosomal recessive dystonia, Dopa-responsive, autosomal recessive TH-deficient dopa-responsive dystonia MONDO:0011552 A schizophrenia that has material basis in an autosomal dominant mutation of SCZD10 on chromosome 15q15. SCZD10 schizophrenia 10 catatonia, periodic schizophrenia susceptibility locus, chromosome 15Q15-related schizophrenia 10 MONDO:0011553 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q31. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB26 autosomal recessive deafness 26 autosomal recessive nonsyndromic deafness 26 autosomal recessive nonsyndromic deafness type 26 deafness, autosomal recessive 26 autosomal recessive nonsyndromic hearing loss 26 MONDO:0011555 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterised by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15). ATRUS syndrome RUSAT radioulnar synostosis with amegakaryocytic thrombocytopenia radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome MONDO:0011556 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 BCC1 basal cell carcinoma, somatic basal cell carcinoma, susceptibility to, 1 basal cell carcinoma, multiple basal cell carcinoma, nonsyndromic multiple basal cell carcinoma basal cell carcinoma, susceptibility to, 1 MONDO:0011557 radiation sensitivity/chromosome instability syndrome, autosomal dominant radiation sensitivity/chromosome instability syndrome, autosomal dominant MONDO:0011558 A form of Usher syndrome type 2 that features a heterozygous frameshift mutation in the GPR98 gene and a heterozygous frameshift mutation in the PDZD7 gene. It is inherited in an autosomal recessive manner. https://github.com/monarch-initiative/mondo/issues/4521 USH2C Usher syndrome type IIC Usher syndrome, type 2C, GPR98/PDZD7 digenic, autosomal recessive, digenic dominant Usher syndrome, type 2C, autosomal recessive, digenic dominant Usher syndrome, type IIC, GPR98/PDZD7 digenic, autosomal recessive, digenic dominant USHER syndrome, type IIC Usher syndrome, type 2C Usher syndrome, type IIb Usher syndrome, type IIb, formerly Usher syndrome, type IIc, Gpr98/Pdzd7, digenic Usher syndrome type 2C https://rarediseases.info.nih.gov/diseases/8497/usher-syndrome-type-2c MONDO:0011559 BRIC2 Bric type 2 cholestasis, benign recurrent intrahepatic, type 2 benign recurrent intrahepatic cholestasis 2 cholestasis, benign recurrent intrahepatic 2 cholestasis, benign recurrent intrahepatic, 2 mild ABCB11 deficiency recurrent familial intrahepatic cholestasis 2 benign recurrent intrahepatic cholestasis type 2 https://rarediseases.info.nih.gov/diseases/10029/benign-recurrent-intrahepatic-cholestasis-2 MONDO:0011560 SLEB3 systemic lupus erythematosus, susceptibility to, 3 systemic lupus erythematosus, susceptibility to, 3 MONDO:0011561 An Alzheimer's disease that is characterized by an associated with variation in the region 10q24. AD6 Alzheimer disease 6 Alzheimer disease 6, late onset Alzheimer disease type 6 Alzheimer's disease 6 Alzheimer's disease type 6 Alzheimer disease 6, late-onset plasma Beta-amyloid-42 level quantitative trait locus Alzheimer disease 6 MONDO:0011562 A late onset Parkinson disease that has material basis in heterozygous triplication of the alpha-synuclein gene (SNCA) on chromosome 4q22. autosomal dominant Lewy body Parkinson disease 4 autosomal dominant Parkinson disease 4 autosomal dominant Parkinson disease type 4 PARK4 Parkinson disease 4, autosomal dominant Parkinson disease 4, autosomal dominant Lewy body autosomal dominant Parkinson's disease 4 autosomal dominant Parkinson disease 4 MONDO:0011563 GINGF2 fibromatosis, gingival, 2 GGF2 HGF2 fibromatosis gingival, hereditary, 2 fibromatosis, gingival, hereditary, 2 gingival fibromatosis, 2 hereditary gingival fibromatosis, 2 fibromatosis, gingival, 2 MONDO:0011564 A cone-rod dystrophy that has material basis in variation in the chromosome region 1q12-q24. CORD8 cone-rod dystrophy 8 cone-rod dystrophy type 8 cone-rod dystrophy 8 MONDO:0011565 abdominal obesity-metabolic syndrome 1 dysmetabolic syndrome X metabolic syndrome type X AOMS1 abdominal obesity metabolic syndrome abdominal obesity-metabolic syndrome quantitative trait locus 1 metabolic syndrome 10 metabolic syndrome, protection against metabolic syndrome X MONDO:0011566 https://github.com/monarch-initiative/mondo/issues/4521 Abdominal obesity-metabolic syndrome abdominal obesity-metabolic syndrome quantitative trait locus 2 abdominal obesity-metabolic syndrome quantitative trait locus type 2 Aoms2 abdominal obesity-metabolic syndrome quantitative trait locus 2 MONDO:0011567 A dilated cardiomyopathy that has material basis in variation in the chromosome region 6q12-q16. CMD1K dilated cardiomyopathy type 1K cardiomyopathy, dilated, 1K dilated cardiomyopathy 1K MONDO:0011568 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SLC17A8 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA25 SLC17A8 autosomal dominant nonsyndromic deafness autosomal dominant deafness 25 autosomal dominant nonsyndromic deafness 25 autosomal dominant nonsyndromic deafness caused by mutation in SLC17A8 autosomal dominant nonsyndromic deafness type 25 deafness, autosomal dominant 25 deafness, autosomal dominant type 25 autosomal dominant nonsyndromic hearing loss 25 MONDO:0011569 Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy. https://github.com/monarch-initiative/mondo/issues/4521 AR-CMT2B1 CMT2B1 Charcot-Marie-Tooth disease neuronal type 2B1 Charcot-Marie-Tooth disease type 2 caused by mutation in LMNA Charcot-Marie-Tooth disease, type 2B1 Charcot-Marie-Tooth neuropathy type 2B1 LMNA Charcot-Marie-Tooth disease type 2 autosomal recessive Charcot-Marie-Tooth disease type 2B1 autosomal recessive axonal CMT4C1 autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1 CMT 2B1 Charcot Marie Tooth disease type 2B1 Charcot-Marie-Tooth disease, axonal, autosomal recessive, 2B1 Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2B1 Charcot-Marie-Tooth disease, axonal, type 2B1 Charcot-Marie-Tooth disease, neuronal, type 2B1 Charcot-Marie-Tooth neuropathy, type 2B1 Charcot-Marie-Tooth disease type 2B1 https://rarediseases.info.nih.gov/diseases/8548/charcot-marie-tooth-disease-type-2b1 MONDO:0011570 Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry. https://github.com/monarch-initiative/mondo/issues/4521 AR-CMT2B2 ARCMT2B CMT2B2 Charcot-Marie-Tooth disease neuronal type 2B2 Charcot-Marie-Tooth disease type 2 caused by mutation in MED25 Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth disease, type 2B2 Charcot-Marie-Tooth neuropathy type 2B2 MED25 Charcot-Marie-Tooth disease type 2 autosomal recessive axonal CMT4C3 autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2 Arcmt2B CMT 2B2 Charcot Marie Tooth disease type 2B2 Charcot-Marie-Tooth disease, axonal, autosomal recessive, B2 Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2B2 Charcot-Marie-Tooth disease, axonal, type 2B2 Charcot-Marie-Tooth disease, neuronal, type 2B2 Charcot-Marie-Tooth neuropathy, type 2B2 Charcot-Marie-Tooth disease type 2B2 https://rarediseases.info.nih.gov/diseases/1249/charcot-marie-tooth-disease-type-2b2 MONDO:0011571 https://github.com/monarch-initiative/mondo/issues/4521 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 deafness, autosomal dominant 39, with dentinogenesis imperfecta type 1 deafness, autosomal dominant 39, with dentinogenesis Dfna39/Dgi1 syndrome Dfna39/dentinogenesis imperfecta 1 syndrome Dgi1/Dfna39 syndrome deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 MONDO:0011572 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 5q31.1-q33.1. https://github.com/monarch-initiative/mondo/issues/5033 IDDM18 insulin-dependent diabetes mellitus 18 diabetes mellitus, insulin-dependent, 18 type 1 diabetes mellitus 18 MONDO:0011573 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 PSORS7 psoriasis 7, susceptibility to psoriasis susceptibility 7 psoriasis, protection against psoriasis 7, susceptibility to MONDO:0011574 tetralogy of fallot syndrome, autosomal recessive tetralogy of fallot syndrome, autosomal recessive MONDO:0011575 Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay. https://github.com/monarch-initiative/mondo/issues/5588 cerebrooculonasal syndrome cerebrooculonasal syndrome https://rarediseases.info.nih.gov/diseases/3480/cerebrooculonasal-syndrome MONDO:0011576 Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism. FH-II FH2 familial adrenal adenoma familial hyperaldosteronism type 2 FH 2 FHII HALD2 hyperaldosteronism, familial, type II familial hyperaldosteronism type II MONDO:0011577 https://github.com/monarch-initiative/mondo/issues/4521 myopathy, proximal, and ophthalmoplegia proximal myopathy and ophthalmoplegia MYOPATHY, proximal, and ophthalmoplegia MYPOP inclusion body myopathy 3, autosomal dominant inclusion body myopathy 3, autosomal dominant, formerly myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles myopathy, proximal, and ophthalmoplegia MONDO:0011578 Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC). ptc-RCC Prn1 Ptcprn thyroid carcinoma, papillary, with papillary renal neoplasia Editor note: check MONDO:0000201 thyroid cancer, nonmedullary familial papillary thyroid carcinoma with renal papillary neoplasia MONDO:0011579 Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease. LORD autosomal dominant late-onset retinal degeneration late-onset retinal degeneration pigmentary retinopathy retinal Degeneration, late-onset, autosomal dominant late-onset retinal degeneration MONDO:0011580 cerebellar ataxia and hypergonadotropic hypogonadism cerebellar ataxia and hypergonadotropic hypogonadism MONDO:0011581 A cardioectodermal syndrome that is often associated with the gene DSP, encoding desmoplakin. Desmoplakin is a member of the plakin family of cell adhesion molecules that are responsible for the formation and maintenance of desmosomes. Variation in DSP is associated with cardiomyopathic manifestations that include: (1) seemingly isolated arrhythmogenic right ventricle cardiomyopathy (ARVC) that is atypical and can show left ventricle dominance, or be present in the left and right ventricle simultaneously; and (2) dilated cardiomyopathy. Cutaneous phenotypes including woolly hair and/or keratoderma can present along with the cardiomyopathy, but are noted as less penetrant features. https://github.com/monarch-initiative/mondo/issues/1120 Carvajal syndrome DCWHK KWWH type II arrhythmogenic cardiomyopathy with woolly hair and keratoderma dilated cardiomyopathy with woolly hair and keratoderma keratoderma with woolly hair type II palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome cardiomyopathy dilated with woolly hair and keratoderma cardiomyopathy, dilated, with woolly hair and keratoderma epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy woolly hair - palmoplantar keratoderma - dilated cardiomyopathy syndrome wooly hair - palmoplantar keratoderma - dilated cardiomyopathy arrhythmogenic cardiomyopathy with woolly hair and keratoderma https://rarediseases.info.nih.gov/diseases/5595/cardiomyopathy-dilated-with-woolly-hair-and-keratoderma MONDO:0011582 Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the NFU1 gene. Mmds NFU1 deficiency NFU1 fatal multiple mitochondrial dysfunctions syndrome fatal multiple mitochondrial dysfunctions syndrome caused by mutation in NFU1 multiple mitochondrial dysfunctions syndrome 1 multiple mitochondrial dysfunctions syndrome type 1 MMDS1 multiple mitochondrial dysfunctions syndrome 1 MONDO:0011583 A cerebral amyloid angiopathy that has material basis in an autosomal dominant mutation of APP on chromosome 21q21.3. https://github.com/monarch-initiative/mondo/issues/4521 HCHWAD amyloidosis, Cerebroarterial, APP-related cerebral amyloid angiopathy, APP-related cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants APP-related cerebral amyloid angiopathy amyloidosis, hereditary, with cerebral hemorrhage, Dutch variant cerebral amyloid angiopathy, APP-related, Arctic variant cerebral amyloid angiopathy, APP-related, Dutch variant cerebral amyloid angiopathy, APP-related, Flemish variant cerebral amyloid angiopathy, APP-related, Iowa variant cerebral amyloid angiopathy, APP-related, Italian variant cerebral amyloid angiopathy, APP-related MONDO:0011584 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML. FAD1 FANCD1 Fanconi anemia complementation group D1 Fad1 Fanconi anemia, complementation group D1 inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations Fanconi anemia complementation group D1 MONDO:0011585 Distal hereditary motor neuropathy, Jerash type is a rare, genetic neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (e.g. brisk knee reflexes, positive Babinski sign, absent ankle reflexes) are initially associated but regress as disease stabilizes (~10 years after onset). DSMA2 autosomal recessive distal spinal muscular atrophy type 2 dHMNJ distal hereditary motor neuropathy Jerash type spinal muscular atrophy Jerash type spinal muscular atrophy, distal, autosomal recessive, type 2 HMNJ MNDJ distal hereditary motor neuropathy, Jerash type hereditary motor neuropathy, Jerash type motor neuropathy, distal, Jerash type neuronopathy, distal hereditary motor, Jerash type neuropathy, distal hereditary motor, Jerash type spinal muscular atrophy, Jerash type spinal muscular atrophy, distal, autosomal recessive, 2 autosomal recessive distal spinal muscular atrophy 2 MONDO:0011586 OTSC2 otosclerosis 2 otosclerosis 2 MONDO:0011587 A cataract that has material basis in variation in the region 15q21-q22. CCSSO CTRCT25 cataract 25 cataract type 25 central pouch-like cataract with sutural opacities central saccular cataract with sutural opacities cataract, central pouch-like, with sutural opacities cataract, central saccular, with sutural opacities cataract 25 MONDO:0011588 An inherited blood coagulation disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity. BDPLT12 PGHS1 deficiency platelet COX1 deficiency platelet cyclooxygenase 1 deficiency platelet prostaglandin-endoperoxide synthase 1 deficiency bleeding disorder, platelet-type, 12 prostaglandin-endoperoxide synthase 1 deficiency, platelet platelet-type bleeding disorder 12 MONDO:0011589 MCOPCB2 microphthalmia, colobomatous, isolated 2 microphthalmia, isolated, with coloboma 2 microphthalmia with coloboma 2 MONDO:0011590 anisomastia anisomastia MONDO:0011591 A cataract that has material basis in variation in the region 9q13-q22. CTRCT26 cataract 26, multiple types cataract, autosomal recessive, early-onset, pulverulent cataract 26 multiple types MONDO:0011592 EVR3 exudative vitreoretinopathy 3 exudative vitreoretinopathy 3 MONDO:0011593 seizures, benign familial infantile, 2 seizures, benign familial infantile, type 2 BFIS2 convulsions, benign familial infantile, 2 seizures, benign familial infantile, 2 MONDO:0011594 ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis gonadal dysgenesis, hypergonadotropic, 20 type, with short stature and recurrent metabolic acidosis ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis MONDO:0011595 https://github.com/monarch-initiative/mondo/issues/4069 COIF COIF syndrome Iso-Kikuchi syndrome congenital onychodysplasia of the index fingers nonsyndromic congenital nail disorder type 7 NDNC7 congenital isolated nail dysplasia isolated congenital nail dysplasia isolated congenital onychodysplasia nail disorder, nonsyndromic congenital, 7 nail dysplasia, isolated congenital onychodysplasia, isolated congenital Editor note: Orphanet classifies as both syndromic and isolated. See https://github.com/monarch-initiative/mondo-build/issues/49 nonsyndromic congenital nail disorder 7 MONDO:0011596 An inherited susceptibility or predisposition to developing atopic dermatitis in which the cause of the disease is a mutation in the FLG gene. https://github.com/monarch-initiative/mondo/issues/4521 ATOD2 FLG atopic eczema atopic dermatitis 2 atopic dermatitis type 2 atopic eczema caused by mutation in FLG dermatitis, Atopic, type 2 dermatitis, atopic, susceptibility to, 2 dermatitis, ATOPIC, 2 dermatitis, atopic, 2 MONDO:0011597 An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 20p. https://github.com/monarch-initiative/mondo/issues/4521 ATOD3 atopic dermatitis 3 atopic dermatitis type 3 atopic dermatitis with asthma dermatitis, atopic, susceptibility to, 3 dermatitis, ATOPIC, 3 dermatitis, Atopic, with asthma dermatitis, atopic, 3 MONDO:0011598 An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 17q25.3. https://github.com/monarch-initiative/mondo/issues/4521 ATOD4 atopic dermatitis 4 atopic dermatitis type 4 dermatitis, atopic, susceptibility to, 4 dermatitis, ATOPIC, 4 dermatitis, atopic, 4 MONDO:0011599 Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia. BSCR birdshot chorioretinitis birdshot chorioretinopathy birdshot retinochoroiditis birdshot retinochoroidopathy vitiliginous choroiditis Bscr multiple small, cream-colored lesions, symmetrically scattered mainly around the optic disk birdshot chorioretinopathy https://rarediseases.info.nih.gov/diseases/5926/birdshot-chorioretinopathy MONDO:0011600 A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13. https://github.com/monarch-initiative/mondo/issues/4069 CMS Ia1 CMS1A1 CMS4A congenital myasthenic syndrome 4A slow-channel congenital myasthenic syndrome type 4A congenital myasthenic syndrometype Ia1 Cms Ia1 Cms Ia1, formerly congenital myasthenic syndrome type Ia1 congenital myasthenic syndrome type Ia1, formerly myasthenic syndrome, congenital, 4A, slow-channel congenital myasthenic syndrome 4A MONDO:0011601 Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia. NICCD neonatal intrahepatic cholestasis caused by citrin deficiency neonatal intrahepatic cholestasis due to citrin deficiency cholestasis, neonatal intrahepatic, caused by citrin deficiency citrullinemia, type II, neonatal-onset citrullinemia, type II, neonatal-onset, with or without failure to thrive and dyslipidemia neonatal-onset citrullinemia type 2 neonatal-onset citrullinemia type II neonatal intrahepatic cholestasis due to citrin deficiency MONDO:0011602 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q31. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB27 autosomal recessive deafness 27 autosomal recessive nonsyndromic deafness 27 autosomal recessive nonsyndromic deafness type 27 deafness, autosomal recessive 27 autosomal recessive nonsyndromic hearing loss 27 MONDO:0011603 Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps. DMRV HIBM2 IBM2 Nonaka myopathy distal myopathy with rimmed vacuoles distal myopathy, Nonaka type hereditary inclusion body myopathy type 2 inclusion body myopathy autosomal recessive inclusion body myopathy type 2 quadriceps-sparing myopathy NM Nonaka distal myopathy QSM inclusion body myopathy 2, autosomal recessive inclusion body myopathy 2, autosomal recessive, formerly inclusion body myopathy, autosomal recessive inclusion body myopathy, hereditary, autosomal recessive inclusion body myopathy, quadriceps-sparing myopathy, distal, with or without rimmed vacuoles myopathy, distal, with rimmed vacuoles quadriceps sparing myopathy rimmed vacuole myopathy GNE myopathy MONDO:0011604 Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows. https://github.com/monarch-initiative/mondo/issues/4948 SOS spondyloocular syndrome spondylo-ocular syndrome MONDO:0011605 Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported. GBFHS basaloid follicular hamartoma syndrome, generalized, autosomal dominant generalized basaloid follicular hamartoma syndrome MONDO:0011606 baby rattle pelvis dysplasia baby rattle pelvic dysplasia baby rattle pelvis dysplasia https://rarediseases.info.nih.gov/diseases/9289/baby-rattle-pelvic-dysplasia MONDO:0011607 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 NRCLP2 narcolepsy 2, susceptibility to narcolepsy 2 narcolepsy 2, susceptibility to MONDO:0011608 An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 13q12-q14. https://github.com/monarch-initiative/mondo/issues/4521 ATOD5 atopic dermatitis 5 atopic dermatitis type 5 dermatitis, atopic, susceptibility to, 5 dermatitis, ATOPIC, 5 dermatitis, atopic, 5 MONDO:0011609 An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 5q31-q33. https://github.com/monarch-initiative/mondo/issues/4521 ATOD6 atopic dermatitis 6 atopic dermatitis type 6 dermatitis, atopic, susceptibility to, 6 dermatitis, ATOPIC, 6 dermatitis, atopic, 6 MONDO:0011610 An extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor. This is an n-of-1 use case where only one patient or family has been described with this disorder. https://github.com/monarch-initiative/mondo/issues/4985 DMG dehydrogenase deficiency DMGDH deficiency dimethylglycine dehydrogenase activity disease dimethylglycine dehydrogenase deficiency disorder of dimethylglycine dehydrogenase activity DMGDHD Dmgdh deficiency dimethylglycine dehydrogenase deficiency MONDO:0011611 short stature, intellectual disability, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting short stature, mental retardation, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting short stature, intellectual disability, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting MONDO:0011612 Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity. NKA glycine encephalopathy non-ketotic hyperglycinemia nonketotic hyperglycinemia GCE GLYCINE encephalopathy Glycine synthase deficiency hyperglycinemia nonketotic hyperglycinemia, Nonketotic hyperglycinemia, transient neonatal glycine encephalopathy https://rarediseases.info.nih.gov/diseases/7219/glycine-encephalopathy MONDO:0011613 Any Parkinson disease in which the cause of the disease is a mutation in the PINK1 gene. https://github.com/monarch-initiative/mondo/issues/4521 PINK1 Parkinson disease Parkinson disease 6, early onset Parkinson disease caused by mutation in PINK1 autosomal recessive early-onset Parkinson disease 6 autosomal recessive early-onset Parkinson disease type 6 early-onset Parkinson disease 6 PARK6 Parkinson disease 6, autosomal recessive early-onset Parkinson disease 6, early-onset Parkinson disease 6, late-onset, susceptibility to Parkinson disease, autosomal recessive early-onset, digenic, Pink1/Dj1 autosomal recessive early-onset Parkinson's disease 6 autosomal recessive early-onset Parkinson disease 6 MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism, reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death. https://github.com/monarch-initiative/mondo/issues/4521 3-hydroxy-3-methylglutaryl-CoA synthase deficiency HMG-CoA synthase deficiency HMG-CoA synthase-2 deficiency 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency HMG CoA synthetase deficiency HMGCS2D Hmgcs2 deficiency mitochondrial HMG-Coa synthase deficiency 3-hydroxy-3-methylglutaryl-CoA synthase deficiency MONDO:0011615 Bdet bleeding disorder, EAST Texas type East Texas bleeding disorder MONDO:0011616 A holoprosencephaly that has material basis in variation in the chromosome region 2q37.1-q37.3. HPE6 holoprosencephaly 6 holoprosencephaly type 6 holoprosencephaly 6 MONDO:0011617 arthropathy, erosive arthropathy, erosive MONDO:0011618 liver fibrocystic disease and polydactyly liver fibrocystic disease and polydactyly MONDO:0011619 crumpled helices and small mouth sparse hair, prominent nose, small mouth, micrognathia, cleft palate, crumpled upper helices, digit anomaly, and mild developmental delay crumpled helices and small mouth https://rarediseases.info.nih.gov/diseases/10078/crumpled-helices-and-small-mouth MONDO:0011620 Metaphyseal dysplasia, Braun-Tinschert type is characterised by metapyhseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions. https://github.com/monarch-initiative/mondo/issues/4948 metaphyseal dysplasia, Braun-Tinschert type metaphyseal dysplasia, Braun-Tinschert type MONDO:0011621 Acro-pectoral syndrome is characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations. It has been described in 22 patients from a six-generation Turkish family. It is transmitted as an autosomal dominant trait and the causative gene is located at 7q36. https://github.com/monarch-initiative/mondo/issues/4948 ACRP syndrome acropectoral syndrome syndactyly-preaxial polydactyly-sternal deformity syndrome ACRPS Dundar Acropectoral syndrome acro-pectoral syndrome syndactyly, preaxial polydactyly and sternal deformity syndactyly, preaxial polydactyly, and sternal deformity acropectoral syndrome https://rarediseases.info.nih.gov/diseases/8485/acropectoral-syndrome MONDO:0011622 nephrolithiasis, uric acid, susceptibility to UAN susceptibility to uric acid nephrolithiasis urolithiasis, uric acid, susceptibility to nephrolithiasis, uric acid, susceptibility to MONDO:0011624 Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities. https://github.com/monarch-initiative/mondo/issues/4985 TALDO deficiency transaldolase deficiency Eyaid syndrome Taldo deficiency transaldolase deficiency https://rarediseases.info.nih.gov/diseases/10445/transaldolase-deficiency MONDO:0011625 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 3q22. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA18 autosomal dominant deafness 18 autosomal dominant nonsyndromic deafness 18 autosomal dominant nonsyndromic deafness type 18 deafness, autosomal dominant 18 autosomal dominant nonsyndromic hearing loss 18 MONDO:0011626 acromegaloid features, overgrowth, cleft palate, and hernia Aoch acromegaloid features, overgrowth, cleft palate and hernia acromegaloid features, overgrowth, cleft palate, and hernia https://rarediseases.info.nih.gov/diseases/10194/acromegaloid-features-overgrowth-cleft-palate-and-hernia MONDO:0011627 https://github.com/monarch-initiative/mondo/issues/4521 AUTS5 autism, susceptibility to, 5 intellectual developmental disorder with autism and speech delay autism-related speech delay phrase speech delay, autism-related autism, susceptibility to, 5 MONDO:0011628 Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy. https://github.com/monarch-initiative/mondo/issues/4985 GLYCINEMIA, ketotic ketotic II glycinemia ketotic glycinemia ketotic hyperglycinemia propionic acidemia propionic aciduria propionyl-CoA carboxylase deficiency Glycinemia, ketotic PCC deficiency Propionicacidemia hyperglycinemia with ketoacidosis and leukopenia prop propionyl-Coa carboxylase deficiency propionic acidemia https://rarediseases.info.nih.gov/diseases/467/propionic-acidemia MONDO:0011629 MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1). CDG syndrome type IIb CDG-IIb CDG2B MOGS-CDG MOGS-congenital disorder of glycosylation carbohydrate deficient glycoprotein syndrome type IIb congenital disorder of glycosylation type 2b congenital disorder of glycosylation type IIb glucosidase 1 deficiency CDG 2B CDG IIb GCS1-CDG MOGS-CDG (CDG-IIb) congenital disorder of glycosylation, type IIb MOGS-congenital disorder of glycosylation MONDO:0011630 Any retinitis pigmentosa in which the cause of the disease is a mutation in the FAM161A gene. FAM161A retinitis pigmentosa RP28 retinitis pigmentosa 28 retinitis pigmentosa caused by mutation in FAM161A retinitis pigmentosa type 28 RP 28 retinitis pigmentosa 28 https://rarediseases.info.nih.gov/diseases/10394/retinitis-pigmentosa-28 MONDO:0011631 Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin. HFE4 SLC40A1 hereditary hemochromatosis autosomal dominant hereditary hemochromatosis ferroportin disease hemochromatosis due to defect in ferroportin hereditary hemochromatosis caused by mutation in SLC40A1 hemochromatosis, autosomal dominant hemochromatosis, type 4 hemochromatosis type 4 https://rarediseases.info.nih.gov/diseases/10094/hemochromatosis-type-4 MONDO:0011632 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the MATR3 gene. ALS21 MATR3 amyotrophic lateral sclerosis amyotrophic lateral sclerosis caused by mutation in MATR3 amyotrophic lateral sclerosis type 21 amyotrophic lateral sclerosis 21 myopathy, distal, 2 myopathy, distal, 2, formerly vocal cord and pharyngeal dysfunction with distal myopathy vocal cord and pharyngeal dysfunction with distal myopathy, formerly amyotrophic lateral sclerosis type 21 MONDO:0011633 Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade. CMT2C Charcot-Marie-Tooth disease type 2 caused by mutation in TRPV4 Charcot-Marie-Tooth neuropathy type 2C HMSN2C TRPV4 Charcot-Marie-Tooth disease type 2 autosomal cominant axonal Charcot-Marie-Tooth disease type 2C autosomal dominant Charcot-Marie-Tooth disease type 2C hereditary motor and sensory neuropathy type IIc CMT 2C Charcot Marie Tooth disease type 2C Charcot-Marie-Tooth disease type 2C Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2C Charcot-Marie-Tooth disease, axonal, type 2C Charcot-Marie-Tooth neuropathy, type 2C HMSN 2 C HMSN 2C hereditary motor and sensory neuropathy 2 C hereditary motor and sensory neuropathy, type 2C hereditary motor and sensory neuropathy, type IIC Charcot-Marie-Tooth disease axonal type 2C https://rarediseases.info.nih.gov/diseases/1250/charcot-marie-tooth-disease-type-2c MONDO:0011634 A benign myopathy with symptoms and signs of muscular hyperexcitability. The typical finding is electrically silent muscle contractions provoked by mechanical stimuli and stretch rippling muscle disease https://rarediseases.info.nih.gov/diseases/9164/rippling-muscle-disease MONDO:0011635 https://github.com/monarch-initiative/mondo/issues/4521 MNG3 goiter, multinodular 3 goiter, multinodular, 3 goiter, multinodular 3 MONDO:0011636 Diamond-Blackfan anemia 2 DBA2 Diamond-Blackfan Anemia, 2 anemia Diamond-Blackfan 2 Diamond-Blackfan anemia 2 https://rarediseases.info.nih.gov/diseases/8283/diamond-blackfan-anemia-2 MONDO:0011637 Sener syndrome frontonasal dysplasia and dilated Virchow-Robin spaces polycystic brain (cerebrum polycystica vera) associated with ectodermal dysplasia Sener syndrome https://rarediseases.info.nih.gov/diseases/8451/sener-syndrome MONDO:0011638 Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA) characterized by progressive chorea or dystonia and subtle cognitive deficits. NBIA3 Neuroferritinopathy; basal ganglia disease, adult-onset adult basal ganglia disease ferritin-related neurodegeneration hereditary ferritinopathy neurodegeneration with brain iron accumulation type 3 neuroferritinopathy basal ganglia disease adult-onset basal ganglia disease, adult-onset neurodegeneration with brain iron accumulation 3 Editor note: consider relation to basal ganglia neuroferritinopathy MONDO:0011639 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS28 gene. https://github.com/monarch-initiative/mondo/issues/4521 Diamond Blackfan anemia 15 with mandibulofacial dysostosis Diamond-Blackfan anemia 15 with mandibulofacial dysostosis Diamond-Blackfan anemia caused by mutation in RPS28 RPS28 Diamond-Blackfan anemia DBA15 Not in the OMIM series 105650. Diamond-Blackfan anemia 15 with mandibulofacial dysostosis MONDO:0011640 Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency. https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5588 absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome genitopatellar syndrome GENITOPATELLAR syndrome GTPTS absent patellae, scrotal hypoplasia, renal anomalies, Facial Dysmorphism, and intellectual disability absent patellae, scrotal hypoplasia, renal anomalies, Facial Dysmorphism, and mental retardation genitopatellar syndrome https://rarediseases.info.nih.gov/diseases/10994/genitopatellar-syndrome MONDO:0011641 baculum, congenital absence of Os penis, congenital absence of baculum, congenital absence of MONDO:0011642 A disease arising from a defect of carnitine acetyltransferase causing disruption of whole-body glucose homeostasis and muscle-specific loss of function results in reduced metabolic control, which resembles the insulin resistant state. carnitine acetyltransferase deficiency Acetyl-carnitine deficiency CrAT acetyl-carnitine deficiency carnitine acetyltransferase deficiency https://rarediseases.info.nih.gov/diseases/8602/acetyl-carnitine-deficiency MONDO:0011644 An inflammatory disorder of the cilliary body in the uvea that affects healthy, younger individuals who are often asymptomatic. It has a long clinical course with relapses and remissions. Symptoms include mildly decreased vision and floaters. It may be associated with autoimmune disorders. inflammation of pars plana of ciliary body pars plana of ciliary body inflammation pars plana of ciliary bodyitis pars planitis posterior cyclitis familial pars planitis (subtype) peripheral retinal inflammation pars planitis MONDO:0011646 laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy MONDO:0011647 An Alzheimer's disease that is characterized by an associated with variation in the region 10p13. https://github.com/monarch-initiative/mondo/issues/4521 AD7 Alzheimer disease 7 Alzheimer disease type 7 Alzheimer disease, familial 7 Alzheimer disease-7 Alzheimer's disease 7 Alzheimer's disease type 7 Ad7 Alzheimer disease, familial, 7 Alzheimer disease 7 MONDO:0011648 Mnri meningioma, radiation-induced radiation induced meningioma radiation-induced meningioma https://rarediseases.info.nih.gov/diseases/8491/radiation-induced-meningioma MONDO:0011649 https://github.com/monarch-initiative/mondo/issues/5758 2023-04-01 AVC defect AVSD atrioventricular canal defect atrioventricular septal defect atrioventricular septal defect, susceptibility to, 1 endocardial cushion defect Reason: duplicate. This will be merged with MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 AVSD 1 MONDO:0011650 Any atrioventricular septal defect in which the cause of the disease is a mutation in the CRELD1 gene. CRELD1 atrioventricular septal defect atrioventricular septal defect caused by mutation in CRELD1 atrioventricular septal defect, susceptibility to, 2 atrioventricular septal defect, susceptibility to, type 2 AVSD2 atrioventricular septal defect, partial, with heterotaxy syndrome susceptibility to atrioventricular septal defect 2 atrioventricular septal defect, susceptibility to, 2 MONDO:0011651 https://github.com/monarch-initiative/mondo/issues/4521 intellectual developmental disorder with short stature, facial anomalies, and speech defects intellectual disability, short stature, facial anomalies, and JOINT dislocations mental retardation, short stature, facial anomalies, and JOINT dislocations intellectual disability, short stature, facial anomalies, and joint dislocations MONDO:0011652 Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. 22q13 deletion Phelan McDermid syndrome Phelan-McDermid syndrome monosomy 22q13 monosomy type 22q13 22q13.3 deletion syndrome PHELAN-McDermid syndrome PHMDS chromosome 22Q13.3 deletion syndrome deletion 22q13.3 syndrome telomeric 22Q13 monosomy syndrome Phelan-McDermid syndrome MONDO:0011653 https://github.com/monarch-initiative/mondo/issues/4521 NMTC3 thyroid cancer, nonmedullary, 3 thyroid carcinoma, nonmedullary, 3 thyroid cancer, nonmedullary, 1 thyroid cancer, nonmedullary, 1, formerly thyroid cancer, nonmedullary, 3 MONDO:0011654 Kondoh syndrome intellectual disability, microcephaly, growth retardation, JOINT contractures, and facial dysmorphism mental retardation, microcephaly, growth retardation, JOINT contractures, and facial dysmorphism intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism MONDO:0011655 An alveolar soft part sarcoma occurring in adults. The most common site of involvement is the extremity, particularly the deep soft tissues of the thigh. alveolar soft part sarcoma (disease) ASPS adult alveolar soft Part sarcoma adult alveolar soft part sarcoma adult alveolar soft-Part sarcoma alveolar soft Part sarcoma alveolar soft part sarcoma alveolar soft part sarcoma (disease) alveolar soft-part sarcoma childhood alveolar soft part sarcoma pediatric alveolar soft Part sarcoma alveolar soft PART sarcoma alveolar soft tissue sarcoma alveolar soft-tissue sarcoma alveolar soft part sarcoma MONDO:0011656 PDB4 Paget disease of bone 4 paget disease of bone 4 MONDO:0011657 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q35-qter. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA 24 DFNA24 autosomal dominant deafness 24 autosomal dominant nonsyndromic deafness 24 autosomal dominant nonsyndromic deafness type 24 deafness, autosomal dominant 24 deafness, autosomal dominant nonsyndromic sensorineural 24 autosomal dominant nonsyndromic hearing loss 24 MONDO:0011658 Any Parkinson disease in which the cause of the disease is a mutation in the PARK7 gene. PARK7 Parkinson disease Parkinson disease caused by mutation in PARK7 autosomal recessive early-onset Parkinson disease 7 autosomal recessive early-onset Parkinson disease type 7 PARK7 Parkinson disease 7, autosomal recessive early-onset autosomal recessive early-onset Parkinson's disease 7 autosomal recessive early-onset Parkinson disease 7 MONDO:0011659 HTX3 heterotaxy, visceral, 3, autosomal heterotaxy, visceral, 3, autosomal MONDO:0011660 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA22 MYO6 autosomal dominant nonsyndromic deafness autosomal dominant deafness 22 autosomal dominant nonsyndromic deafness 22 autosomal dominant nonsyndromic deafness caused by mutation in MYO6 autosomal dominant nonsyndromic deafness type 22 deafness, autosomal dominant 22 deafness, autosomal dominant 22, with hypertrophic cardiomyopathy deafness, autosomal dominant nonsyndromic sensorineural 22 deafness, autosomal dominant type 22 DFNA 22 autosomal dominant nonsyndromic hearing loss 22 MONDO:0011661 An inflammatory bowel disease that has material basis in variation in the chromosome region 5q31. IBD5 inflammatory bowel disease 5 inflammatory bowel disease type 5 inflammatory bowel disease 5 MONDO:0011662 A disorder characterized by a preoccupation with gambling and the excitement that gambling with increasing risk provides. Pathological gamblers are unable to cut back on their gambling, despite the fact that it may lead them to lie, steal, or lose a significant relationship, job, or educational opportunity. compulsive gambling pathological gambling gambling, pathologic pathological gambling MONDO:0011663 Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production. JPLS juvenile PLS PLS juvenile PLSJ Pls, juvenile primary lateral sclerosis, juvenile juvenile primary lateral sclerosis https://rarediseases.info.nih.gov/diseases/4485/juvenile-primary-lateral-sclerosis MONDO:0011664 Interleukin-2 receptor alpha chain deficiency immunodeficiency due to CD25 deficiency CD25 deficiency IL2RA deficiency IMD41 Interleukin 2 receptor, alpha, deficiency of immunodeficiency 41 with lymphoproliferation and autoimmunity immunodeficiency due to CD25 deficiency MONDO:0011667 Monogenic diabetes caused by inactivating mutation(s) in the PDX1 gene, encoding pancreas/duodenum homeobox protein 1. Homozygous PDX1 mutations result in permanent neonatal diabetes. https://github.com/monarch-initiative/mondo/issues/4521 MODY type 4 MODY, type IV MODY4 PDX1 maturity-onset diabetes of the young (disease) PDX1-associated monogenic diabetes maturity onset diabetes of the Young, type 4 maturity-onset diabetes of the young (disease) caused by mutation in PDX1 MODY insulin promoter factor-1 related MODY, type 4 diabetes mellitus MODY type 4 maturity-onset diabetes of the young, type 4 type 4 maturity-onset diabetes of the young maturity-onset diabetes of the young type 4 https://rarediseases.info.nih.gov/diseases/10659/maturity-onset-diabetes-of-the-young-type-4 MONDO:0011668 Monogenic diabetes caused by inactivating mutation(s) in the gene NEUROD1, encoding neurogenic differentiation 1. In addition to diabetes, this condition may be associated with neurogenic anomalies. Homozygous NEUROD1 mutations result in permanent neonatal diabetes. https://github.com/monarch-initiative/mondo/issues/4521 MODY type 6 MODY6 NEUROD1 maturity-onset diabetes of the young (disease) NEUROD1-associated monogenic diabetes maturity onset diabetes of the Young, type 6 maturity-onset diabetes of the young (disease) caused by mutation in NEUROD1 maturity-onset diabetes of the young 6 neurogenic differentiation Factor 1-associated monogenic diabetes MODY NEUROD1 related MODY, type 6 diabetes mellitus MODY type 6 maturity-onset diabetes of the young, type 6 type 6 maturity-onset diabetes of the young maturity-onset diabetes of the young type 6 https://rarediseases.info.nih.gov/diseases/10660/maturity-onset-diabetes-of-the-young-type-6 MONDO:0011669 A rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. https://github.com/monarch-initiative/mondo/issues/3782 https://github.com/monarch-initiative/mondo/issues/4985 HCS cystinuria with mitochondrial disease hypotonia-cystinuria syndrome hypotonia-cystinuria syndrome type 1 hypotonia-cystinuria type 1 syndrome homozygous 2P16 deletion syndrome homozygous 2P16 deletion syndrome, formerly homozygous 2P21 deletion syndrome hypotonia-cystinuria syndrome MONDO:0011670 https://github.com/monarch-initiative/mondo/issues/4521 EDS, classic-like type Ehlers-Danlos syndrome due to tenascin-X deficiency Ehlers-Danlos syndrome, classic-like type Ehlers-Danlos syndrome, classic-like, 1 EDS due to TNX deficiency EDS due to Tnx deficiency EDSCLL Ehlers-Danlos syndrome, classic-like Ehlers-Danlos-like syndrome due to tenascin-X deficiency TNX deficiency Tnx deficiency clEDS classical-like EDS classical-like Ehlers-Danlos syndrome Ehlers-Danlos syndrome due to tenascin-X deficiency MONDO:0011671 Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes characterized by a triad of movement, psychiatric, and cognitive abnormalities. HDL2 Huntington disease-like 2 Huntington disease-like type 2 Huntington's disease-like 2 Huntington disease-like 2 MONDO:0011672 Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare, generally benign, lymphoproliferative hematological disease characterized by: chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly. PPBL persistent polyclonal B-cell lymphocytosis persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes persistent polyclonal B-cell lymphocytosis MONDO:0011673 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 15q25-q26. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA30 autosomal dominant deafness 30 autosomal dominant nonsyndromic deafness 30 autosomal dominant nonsyndromic deafness type 30 deafness, autosomal dominant 30 autosomal dominant nonsyndromic hearing loss 30 MONDO:0011674 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts. https://github.com/monarch-initiative/mondo/issues/4521 CMTDI1 CMTDIB Charcot-Marie-Tooth disease caused by mutation in DNM2 Charcot-Marie-Tooth disease dominant intermediate type B Charcot-Marie-Tooth disease, axonal type 2M Charcot-Marie-Tooth disease, dominant Intermediate type B Charcot-Marie-Tooth neuropathy dominant intermediate B DI-CMTB DNM2 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2M Charcot-Marie-Tooth disease, axonal, type 2M Charcot-Marie-Tooth disease, dominant Intermediate B, with neutropenia Charcot-Marie-Tooth disease, dominant intermediate B Charcot-Marie-Tooth neuropathy, axonal, type 2M Charcot-Marie-Tooth neuropathy, dominant Intermediate B Charcot-Marie-Tooth neuropathy, dominant Intermediate B, with neutropenia Cmtdi1 DNM2-related intermediate Charcot-Marie-Tooth neuropathy Di-CMTB autosomal dominant intermediate Charcot-Marie-Tooth disease type B Charcot-Marie-Tooth disease dominant intermediate B MONDO:0011675 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards. CMT2GG CMTDIA Charcot-Marie-Tooth disease dominant intermediate A Charcot-Marie-Tooth disease dominant intermediate type A Charcot-Marie-Tooth neuropathy dominant intermediate A DI-CMTA autosomal dominant intermediate Charcot-Marie-Tooth disease type A Charcot-Marie-Tooth disease, dominant intermediate A Charcot-Marie-Tooth neuropathy, dominant Intermediate a Di-Cmta Charcot-Marie-Tooth Disease, axonal, type 2GG MONDO:0011676 PHACE is an acronym used to describe a syndrome characterised by the association of posterior fossa brain malformations, large facial haemangiomas, anatomical anomalies of the cerebral arteries, aortic coarctation and other cardiac anomalies, and eye abnormalities. Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES. Two additional manifestations have recently been added to the clinical spectrum of PHACE syndrome: stenosis of the vessels at the base of the skull and segmental longitudinal dilations of the internal carotid artery. pascual-Castroviejo syndrome type 2 P-CIIS PHACE association Phaces association Posterior fossa brain malformations, hemangiomas of the face, arterial anomalies, cardiac anomalies, and eye abnormalities aortic aneurysm, giant congenital pascual-Castroviejo type II syndrome PHACE syndrome MONDO:0011677 Megarbane syndrome short stature, abnormal face, joint laxity, hernias, delayed bone age, and severe psychomotor retardation Megarbane syndrome https://rarediseases.info.nih.gov/diseases/9979/megarbane-syndrome MONDO:0011678 https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/4521 chromosome 11p15-p14 deletion syndrome homozygous 11P15-p14 deletion syndrome hyperinsulinism, infantile, with enteropathy and deafness homozygous 11P15-p14 deletion syndrome MONDO:0011679 Autosomal recessive form of craniosynostosis. autosomal recessive craniosynostosis craniosynostosis syndrome, autosomal recessive craniosynostosis, autosomal recessive craniosynostosis syndrome, autosomal recessive MONDO:0011680 Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ALOXE3 gene. https://github.com/monarch-initiative/mondo/issues/4069 ARCI3 autosomal recessive congenital ichthyosis type 3 ichthyosis, congenital, autosomal recessive type 3 lamellar ichthyosis 5 collodion baby, self-healing ichthyosis, congenital, autosomal recessive 3 ichthyosis, lamellar, 5 ichthyosis, lamellar, 5, formerly autosomal recessive congenital ichthyosis 3 MONDO:0011681 Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia. PATX periodic vestibulocerebellar ataxia EA4 ataxia, periodic vestibulocerebellar episodic ataxia, type 4 episodic ataxia type 4 MONDO:0011682 Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia. episodic ataxia-vertigo-tinnitus-myokymia syndrome EA3 ataxia, episodic, with vertigo and tinnitus episodic ataxia, type 3 episodic ataxia type 3 MONDO:0011683 Oculocutaneous albinism type 4 (OCA4) is a type of OCA characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm. OCA4 SLC45A2 oculocutaneous albinism oculocutaneous albinism caused by mutation in SLC45A2 albinism, oculocutaneous, type 4 albinism, oculocutaneous, type IV oculocutaneous albinism type IV oculocutaneous albinism, type 4 oculocutaneous albinism type 4 MONDO:0011684 vitiligo-associated multiple autoimmune disease susceptibility 1 vitiligo-associated multiple autoimmune disease susceptibility type 1 VAMAS1 systemic lupus erythematosus, vitiligo-related vitiligo vitiligo-associated multiple autoimmune disease susceptibility 1 MONDO:0011685 https://github.com/monarch-initiative/mondo/issues/4882 polysubstance abuse, susceptibility to PSAB drug addiction, susceptibility to polysubstance abuse, susceptibility to MONDO:0011686 LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID). DNA ligase IV deficiency LIG4 syndrome ligase 4 syndrome DNA ligase IV deficiency MONDO:0011687 Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop. CMT2F Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB1 Charcot-Marie-Tooth neuronal type 2F Charcot-Marie-Tooth neuropathy type 2F HSPB1 Charcot-Marie-Tooth disease type 2 autosomal dominant Charcot-Marie-Tooth disease type 2F CMT 2F Charcot Marie Tooth disease type 2F Charcot-Marie-Tooth disease type 2F Charcot-Marie-Tooth disease, axonal, type 2F Charcot-Marie-Tooth disease, neuronal, type 2F Charcot-Marie-Tooth neuropathy, type 2F Charcot-Marie-Tooth disease axonal type 2F https://rarediseases.info.nih.gov/diseases/9194/charcot-marie-tooth-disease-type-2f MONDO:0011688 A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3. FKRP-related congenital muscular dystrophy MDC1C MDDGB5 congenital muscular dystrophy 1C congenital muscular dystrophy-FKRP related muscular dystrophy-dystroglycanopathy (congenital with or without intellectual disability), type B, 5 muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 muscular dystrophy, congenital, 1C muscular dystrophy, congenital, FKRP-related muscular dystrophy-dystroglycanopathy type B5 MONDO:0011689 DYX6 dyslexia, susceptibility to, 6 dyslexia, susceptibility to, 6 MONDO:0011690 Camurati-Engelmann Disease not associated with TGFB1. This is an n-of-1 use case where only one patient or family has been described with this disorder. Camurati-Engelmann disease, type 2 CAEND2 Camurati Engelmann disease, type 2 progressive diaphyseal dysplasia with striations of the bones Camurati-Engelmann disease, type 2 MONDO:0011691 amyotrophic lateral sclerosis 3 ALS3 amyotrophic lateral sclerosis type 3 https://rarediseases.info.nih.gov/diseases/10501/amyotrophic-lateral-sclerosis-type-3 MONDO:0011693 glaucoma, normal tension, susceptibility to NTG glaucoma, normal pressure, susceptibility to glaucoma, normal tension, susceptibility to MONDO:0011694 Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia, tremor and cognitive impairment. https://github.com/monarch-initiative/mondo/issues/5166 SCA15/16 SCAR16 spinocerebellar ataxia type 15 spinocerebellar ataxia type 15/16 spinocerebellar ataxia type 16 SCA15 SCA16 (formerly) spinocerebellar ataxia 15 spinocerebellar ataxia 16 spinocerebellar ataxia 16 (formerly) spinocerebellar ataxia 16, formerly In orphanet, SCA16 is obsoleted in favor of 15/16 spinocerebellar ataxia type 15/16 MONDO:0011695 https://github.com/monarch-initiative/mondo/issues/2656 UVM1 melanoma, uveal, susceptibility to, 1 melanoma, uveal, susceptibility to, type 1 melanoma, uveal, susceptibility to, 1 MONDO:0011696 https://github.com/monarch-initiative/mondo/issues/2656 UVM2 melanoma, uveal, susceptibility to, 2 melanoma, uveal, susceptibility to, type 2 melanoma, uveal, susceptibility to, 2 MONDO:0011697 A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has material basis in variation in the chromosome region 8p23. WS2C Waardenburg syndrome type IIC Waardenburg syndrome, type 2C Waardenburg syndrome type 2C MONDO:0011698 Glycine N-methyltransferase deficiency (GNMT deficiency) is a very rare condition characterized by persistent and isolated excess levels of methionine in the blood (hypermethioninemia). The only clinical abnormalities are mild increase of the liver size (hepatomegaly) and chronic elevation of the transaminase levels in the blood without liver disease. Methionine may also be increased in urine. However, because elevated levels of methionine in the blood itself is a risk factor for development of neurological signs and symptoms, people with GNMT deficiency can have neurological problems when methionine levelsare greater than 800μmol/L. GNMT deficiency is caused by mutations in the GNMT gene. Inheritance is autosomal recessive. Treatment is not needed in most cases. GNMT deficiency Glycine N-methyltransferase deficiency glycine N-methyltransferase deficiency hypermethioninemia due to GNMT deficiency hypermethioninemia due to glycine N-methyltransferase deficiency glycine N-methyltransferase deficiency https://rarediseases.info.nih.gov/diseases/10764/glycine-n-methyltransferase-deficiency MONDO:0011699 An inflammatory bowel disease that has material basis in variation in the chromosome region 16p. IBD8 inflammatory bowel disease 8 inflammatory bowel disease type 8 inflammatory bowel disease 8 MONDO:0011700 An inflammatory bowel disease that has material basis in variation in the chromosome region 19p13. IBD6 inflammatory bowel disease 6 inflammatory bowel disease type 6 inflammatory bowel disease 6 MONDO:0011701 An inflammatory bowel disease that has material basis in variation in the chromosome region 14q11-q12. IBD4 inflammatory bowel disease 4 inflammatory bowel disease type 4 inflammatory bowel disease 4 MONDO:0011702 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SGCD gene. CMD1L SGCD familial isolated dilated cardiomyopathy cardiomyopathy, dilated, type 1L dilated cardiomyopathy type 1L familial isolated dilated cardiomyopathy caused by mutation in SGCD cardiomyopathy, dilated, 1L dilated cardiomyopathy 1L MONDO:0011703 https://github.com/monarch-initiative/mondo/issues/5671 spongiform encephalopathy with neuropsychiatric features spongiform encephalopathy with neuropsychiatric features MONDO:0011705 A multifocal neoplasm with perivascular epithelioid cell differentiation affecting almost exclusively females of child-bearing age. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lungs, mediastinum, and the retroperitoneum. It usually presents with chylous pleural effusion or ascites. https://github.com/monarch-initiative/mondo/issues/4016 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5537 lymphangioleiomyomatosis lymphangioleiomyomatosis, somatic lymphangiomyomatosis lung lymphangioleiomyomatosis pulmonary lymphangioleiomyomatosis LAM lymphangio-myomatosis lymphangioleiomyomatosis https://rarediseases.info.nih.gov/diseases/3319/lymphangioleiomyomatosis MONDO:0011706 Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment. Kufor-Rakeb syndrome PARK9 autosomal recessive Parkinson disease 9 autosomal recessive juvenile onset Parkinson disease 9 KRPPD KRS Pallidopyramidal Degeneration with supranuclear upgaze paresis and dementia Pallidopyramidal degeneration with supranuclear upgaze paresis, and dementia Parkinson disease 9, autosomal recessive Parkinson disease 9, autosomal recessive, juvenile-onset Parkinson disease type 9 ceroid lipofuscinosis, neuronal, 12 park 9 Kufor-Rakeb syndrome MONDO:0011708 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA36 TMC1 autosomal dominant nonsyndromic deafness autosomal dominant deafness 36 autosomal dominant nonsyndromic deafness 36 autosomal dominant nonsyndromic deafness caused by mutation in TMC1 autosomal dominant nonsyndromic deafness type 36 deafness, autosomal dominant 36 deafness, autosomal dominant type 36 autosomal dominant nonsyndromic hearing loss 36 MONDO:0011709 Split-hand/foot malformation mapped to chromosome 2q31. SHFM5 split hand-foot malformation type 5 split-hand/foot malformation type 5 split-hand/foot malformation 5 split hand-foot malformation 5 MONDO:0011710 https://github.com/monarch-initiative/mondo/issues/4521 SLI1 specific language impairment 1 specific language impairment QTL, 1 specific language impairment quantitative trait locus on chromosome 16 specific language impairment 1 MONDO:0011711 https://github.com/monarch-initiative/mondo/issues/4521 SLI2 specific language impairment 2 specific language impairment QTL, 2 specific language impairment quantitative trait locus on chromosome 19 specific language impairment 2 MONDO:0011712 Any van der Woude syndrome in which the cause of the disease is a mutation in the GRHL3 gene. GRHL3 van der Woude syndrome Van Der Woude syndrome type 2 van der Woude syndrome 2 van der Woude syndrome caused by mutation in GRHL3 VAN DER Woude syndrome 2 VWS2 van der Woude syndrome 2 https://rarediseases.info.nih.gov/diseases/7846/van-der-woude-syndrome-2 MONDO:0011713 melanoma-pancreatic cancer syndrome familial atypical multiple Mole melanoma-pancreatic carcinoma syndrome melanoma-pancreatic cancer syndrome MONDO:0011714 https://github.com/monarch-initiative/mondo/issues/4521 lipodystrophy, familial partial, type 7 partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome LCCNS lipodystrophy, partial, with congenital cataracts and neurodegeneration partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome MONDO:0011715 Any Seckel syndrome in which the cause of the disease is a mutation in the RBBP8 gene. https://github.com/monarch-initiative/mondo/issues/4948 RBBP8 Seckel syndrome SCKL2 Seckel syndrome 2 Seckel syndrome caused by mutation in RBBP8 Seckel syndrome type 2 Seckel-type dwarfism 2 microcephalic primordial dwarfism 2 Seckel syndrome 2 MONDO:0011716 Acute hemorrhagic leukoencephalitis(AHL) is a veryrareform of acute disseminated encephalomyelitis that usuallyresults indeath. It is characterized by a brief but intense attack of inflammation in the brain and spinal cord that damages the myelin -- the protective covering of the nerve fibers. It may also cause bleeding in the brain, leading to damage of the white matter. Symptoms usually come on quickly, beginning with symptoms such as fever, neck stiffness, fatigue, headache, nausea vomiting,seizures, and coma.AHL has a very poor prognosis, with rapid deterioration and death usually occurring within days to one week after onset of symptoms because of severe inflammation in the brain. Although the exact cause is unclear,AHL usually followsaviral infection, or less often, vaccination for measles, mumps, or rubella. Some researchers think that an infection or vaccination can initiate an autoimmune process in the body thus leading to AHL. AHL Weston-Hurst syndrome acute haemorrhagic leucoencephalitis of Weston Hurst acute hemorrhagic encephalomyelitis acute hemorrhagic leukoencephalitis acute necrotizing hemorrhagic leukoencephalitis AHLE Ahl acute hemorrhagic leukoencephalitis https://rarediseases.info.nih.gov/diseases/8629/acute-hemorrhagic-leukoencephalitis MONDO:0011717 Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur. https://github.com/monarch-initiative/mondo/issues/4985 GDH hyperinsulinism GLUD1 hyperinsulinism glutamate dehydrogenase 1 hyperinsulinism hi/HA syndrome hyperinsulinemic hypoglycemia, familial, type 6 hyperinsulinism-hyperammonemia syndrome hyperinsulinism/hyperammonemia syndrome HA/hi syndrome HHF6 hyperinsulinemic hypoglycemia familial 6 hyperinsulinemic hypoglycemia, familial, 6 hyperinsulinism hyperammonemia syndrome hyperinsulinism-hyperammonemia syndrome https://rarediseases.info.nih.gov/diseases/9931/hyperinsulinism-hyperammonemia-syndrome MONDO:0011718 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF3 gene. CILD2 DNAAF3 primary ciliary dyskinesia ciliary dyskinesia, primary, type 2 primary ciliary dyskinesia 2 with or without situs inversus primary ciliary dyskinesia caused by mutation in DNAAF3 primary ciliary dyskinesia type 2 ciliary dyskinesia, primary, 2 ciliary dyskinesia, primary, 2, with or without situs inversus primary ciliary dyskinesia 2 MONDO:0011719 Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1. https://github.com/monarch-initiative/mondo/issues/4521 gant gastrointestinal stromal neoplasm gastrointestinal stromal sarcoma gastrointestinal stromal tumor gastrointestinal stromal tumor (gist) gastrointestinal stromal tumor, familial, isolated cases gastrointestinal stromal tumor, isolated cases gist stromal tumor of gastrointestinal tract gastrointestinal stromal tumors gastrointestinal stromal tumor MONDO:0011720 Any azoospermia in which the cause of the disease is a mutation in the SLC26A8 gene. SLC26A8 azoospermia azoospermia caused by mutation in SLC26A8 spermatogenic failure 3 spermatogenic failure type 3 SPGF3 spermatogenic failure 3 MONDO:0011721 distal anterior compartment myopathy DMAT myopathy, distal, with anterior tibial onset distal myopathy with anterior tibial onset MONDO:0011722 https://github.com/monarch-initiative/mondo/issues/5588 MOMES syndrome Momes syndrome intellectual disability, obesity, mandibular prognathism, and eye and skin anomalies mental retardation, obesity, mandibular prognathism, and eye and skin anomalies intellectual disability-obesity-prognathism-eye and skin anomalies syndrome MONDO:0011723 Hemifacial myohyperplasia (HMH) is a developmental disorder that frequently affects the right side of the face and is commonly seen in males. On the affected side of the face, there are usually enlarged tissues that lead to an abnormal jaw shape. Other features associated with HMH include enlargement of the brain, epilepsy, strabismus, genitourinary system disorders, intellectual disability, and dilation of the pupil on the affected side. Asymmetry of the face is more noticeable with age and remains until the end of adolescence when the asymmetry stabilizes. The cause of HMH is unknown; but theories suggest an imbalance in the endocrine system, neuronal abnormalities, chromosomal abnormalities, random events in twinning and fetal development, and vascular or lymphatic abnormalities. hemifacial myohyperplasia HMH hypertrophy and asymmetry of the facial muscles hemifacial myohyperplasia https://rarediseases.info.nih.gov/diseases/10084/hemifacial-myohyperplasia MONDO:0011724 Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4985 De Vivo disease GLUT1 deficiency syndrome 1, infantile onset, severe GLUT1 deficiency syndrome type 1 GLUT1-DS encephalopathy due to GLUT1 deficiency glucose transporter type 1 deficiency glut-1 deficiency syndrome G1D GLUT1 DS GLUT1 deficiency syndrome GLUT1 deficiency syndrome 1 GLUT1 deficiency syndrome 1, autosomal recessive GLUT1DS1 glucose TRANSPORT defect, blood-brain barrier GLUT1 deficiency syndrome 1, autosomal recessive, included glucose Transport defect, blood-brain barrier glucose transport defect, blood-brain barrier glucose transporter Protein syndrome glucose transporter protein syndrome glucose transporter type 1 deficiency syndrome glucose transporter type1 (glut-1) deficiency encephalopathy due to GLUT1 deficiency https://rarediseases.info.nih.gov/diseases/9265/glucose-transporter-type-1-deficiency-syndrome MONDO:0011725 Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1. Arias syndrome UGT deficiency type 2 bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2 bilirubin-UGT deficiency type 2 hereditary unconjugated hyperbilirubinemia type 2 Crigler Najjar syndrome, type 2 Crigler-Najjar syndrome, type 2 Crigler-Najjar syndrome, type II hyperbilirubinemia, Crigler-Najjar type 2 Crigler-Najjar syndrome type 2 https://rarediseases.info.nih.gov/diseases/8683/crigler-najjar-syndrome-type-2 MONDO:0011726 peripheral arterial occlusive disease 1 peripheral arterial occlusive disease type 1 Paod1 peripheral arterial occlusive disease 1 MONDO:0011727 https://github.com/monarch-initiative/mondo/issues/4882 ANON1 anorexia nervosa, susceptibility to, 1 AN anon anorexia nervosa, susceptibility to anorexia nervosa, susceptibility to, 1 MONDO:0011728 Involuntary twitching of the eyelid. https://github.com/monarch-initiative/mondo/issues/4521 blepharospasm, primary benign BEB benign essential blepharospasm blepharospasm, benign essential blepharospasm, benign essential, susceptibility to blepharospasm MONDO:0011729 https://github.com/monarch-initiative/mondo/issues/4882 stroke, susceptibility to, 1 stroke, susceptibility to, type 1 Strk1 stroke, susceptibility to, 1 MONDO:0011730 Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment. fumarase deficiency fumaric aciduria FMRD fumarate hydratase deficiency fumaric aciduria MONDO:0011731 Glucose-galactose malabsorption (GGM) is a very rare, potentially lethal, genetic metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset inthe neonatal period. https://github.com/monarch-initiative/mondo/issues/4985 SGLT1 deficiency glucose-galactose malabsorption Complex carbohydrate intolerance GGM carbohydrate intolerance of glucose galactose glucose galactose malabsorption deficiency glucose/galactose malabsorption monosaccharide malabsorption glucose-galactose malabsorption https://rarediseases.info.nih.gov/diseases/6521/glucose-galactose-malabsorption MONDO:0011732 Familial digital arthropathy-brachydactyly is characterised by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant. https://github.com/monarch-initiative/mondo/issues/4948 FDAB digital arthropathy-brachydactyly, familial familial digital arthropathy-brachydactyly MONDO:0011733 PSMNSB parasomnia, sleep bruxism type faciomandibular myoclonus, nocturnal nocturnal facio-mandibular myoclonus parasomnia, Sleeptalking type parasomnia, sleep bruxism type MONDO:0011734 Cardioneuromyopathy with hyaline masses and nemaline rods Cardioneuromyopathy with hyaline masses and nemaline rods MONDO:0011735 A form of Hyper IgM syndrome characterized by mutations of the CD40 gene. In this type, Immature B cells cannot receive signal 2 from helper T cells which is necessary to mature into mature B cells. CD40 hyper-IgM syndrome HIGM3 hyper-IgM syndrome caused by mutation in CD40 hyper-IgM syndrome due to CD40 deficiency immunodeficiency with hyper-IgM type 3 type 3 hyper-IgM immunodeficiency CD40 deficiency hyper IgM syndrome 3 hyper-IgM syndrome 3 immunodeficiency with hyper IgM type 3 immunodeficiency with hyper-IgM, type 3 hyper-IgM syndrome type 3 https://rarediseases.info.nih.gov/diseases/10579/immunodeficiency-with-hyper-igm-type-3 MONDO:0011736 Cree intellectual disability syndrome Cree mental retardation syndrome Cree intellectual disability syndrome MONDO:0011737 PARK10 Parkinson disease 10 Parkinson disease, Age at onset of parkinson disease 10 MONDO:0011738 Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus. bilateral frontoparietal polymicrogyria BFPP cerebellar ataxia with neuronal migration defect polymicrogyria, bilateral frontoparietal bilateral frontoparietal polymicrogyria https://rarediseases.info.nih.gov/diseases/10784/bilateral-frontoparietal-polymicrogyria MONDO:0011739 Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALLD gene. PALLD familial pancreatic carcinoma familial pancreatic carcinoma caused by mutation in PALLD pancreatic cancer, susceptibility to, 1 pancreatic cancer, susceptibility to, type 1 Pnca1 susceptibility to pancreatic cancer 1 pancreatic cancer, susceptibility to, 1 MONDO:0011740 Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. Carney dyad Carney-Stratakis dyad Carney-Stratakis syndrome gist-paraganglioma dyad paraganglioma and gastric stromal sarcoma Carney-Stratakis dyad of paraganglioma and gastric stromal sarcoma paraganglioma and gastrointestinal stromal tumor paraganglioma and gist Carney-Stratakis syndrome MONDO:0011741 https://github.com/monarch-initiative/mondo/issues/4882 HSCR6 Hirschsprung disease, susceptibility to, 6 Hirschsprung disease, susceptibility to, 6 MONDO:0011742 https://github.com/monarch-initiative/mondo/issues/4882 HSCR7 Hirschsprung disease, susceptibility to, 7 Hirschsprung disease, susceptibility to, 7 MONDO:0011743 Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN2 gene. https://github.com/monarch-initiative/mondo/issues/4521 AD4 Alzheimer disease 4 Alzheimer disease type 4 Alzheimer disease, familial4 Alzheimer disease-4 Alzheimer's disease 4 Alzheimer's disease type 4 familial Alzheimer disease, type 4 familial Alzheimer's disease, type 4 Ad4 Alzheimer disease familial type 4 Alzheimer disease, familial, 4 Alzheimer disease 4 MONDO:0011744 Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting. intraosseous hemangioma osseous venous malformation hemangioma, intraosseous vascular malformation osseous vascular malformation, primary intraosseous primary intraosseous venous malformation MONDO:0011745 duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery duodenojejunal atresia with volvulus, absent dorsal mesentery and absent superior mesenteric artery duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery https://rarediseases.info.nih.gov/diseases/9227/duodenojejunal-atresia-with-volvulus-absent-dorsal-mesentery-and-absent-superior-mesenteric-artery MONDO:0011746 symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, and narrowing of the zygomatic arch symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch https://rarediseases.info.nih.gov/diseases/8554/symphalangism-distal-with-microdontia-dental-pulp-stones-and-narrowed-zygomatic-arch MONDO:0011747 DYX5 dyslexia, susceptibility to, 5 dyslexia, susceptibility to, 5 MONDO:0011748 Any Usher syndrome in which the cause of the disease is a mutation in the USH1G gene. USH1G USH1G Usher syndrome Usher syndrome caused by mutation in USH1G Usher syndrome type 1G Usher syndrome type Ig USHER syndrome, type Ig Usher syndrome, type 1G Usher syndrome type 1G MONDO:0011749 Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves. OCA1B Yellow oculocutaneous albinism albinism, Yellow mutant type oculocutaneous albinism, Amish type platinum oculocutaneous albinism Oca1-Ts Yellow albinism Yellow mutant albinism albinism, oculocutaneous, type 1B albinism, oculocutaneous, type I, temperature-sensitive albinism, oculocutaneous, type IB oculocutaneous albinism type IB oculocutaneous albinism, type 1B oculocutaneous albinism type 1B https://rarediseases.info.nih.gov/diseases/594/oculocutaneous-albinism-type-1b MONDO:0011751 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5166 COPD pulmonary disease, chronic obstructive COPD, rate of decline of lung function in COPD, severe early-onset pulmonary disease, chronic obstructive, severe early-onset COPD, severe early onset MONDO:0011752 Any nephronophthisis in which the cause of the disease is a mutation in the NPHP4 gene. NPHP4 NPHP4 nephronophthisis (disease) juvenile nephronophthisis 4 nephronophthisis (disease) caused by mutation in NPHP4 nephronophthisis 4 nephronophthisis type 4 nephronophthisis 4, juvenile nephronophthisis 4 MONDO:0011753 https://github.com/monarch-initiative/mondo/issues/2543 EIG2 epilepsy, idiopathic generalized, susceptibility to, 2 epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 14 epilepsy, idiopathic generalized, susceptibility to, 2 MONDO:0011754 FHHA2 aldosterone synthase deficiency unrelated to CYP11B2 aldosterone synthase deficiency unrelated to the aldosterone synthase gene hyperreninemic hypoaldosteronism, familial, type 2 Fhha2 hyperreninemic hypoaldosteronism, familial, 2 familial hyperreninemic hypoaldosteronism type 2 MONDO:0011755 SLSN3 SENIOR-Loken syndrome 3 senior-loken syndrome 3 MONDO:0011756 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP4 gene. NPHP4 Senior-Loken syndrome Senior-Loken syndrome 4 Senior-Loken syndrome caused by mutation in NPHP4 Senior-Loken syndrome type 4 SENIOR-Loken syndrome 4 SLSN4 Senior-Loken syndrome 4 MONDO:0011757 BDA1B brachydactyly, type A1, B brachydactyly type A1B MONDO:0011758 Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy. https://github.com/monarch-initiative/mondo/issues/4948 Hurler disease Hurler syndrome MPS I H MPS1H MPSIH mucopolysaccharidosis type 1H mucopolysaccharidosis type IH MPS1-H mucopolysaccharidosis IH Hurler syndrome MONDO:0011759 Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development. https://github.com/monarch-initiative/mondo/issues/4948 Hurler-Scheie syndrome MPS I H-S MPS1H/S MPSIH/S mucopolysaccharidosis type 1H/S mucopolysaccharidosis type IH/S mucopolysaccharidosis, mps-I-s Hurler–Scheie syndrome MPS1-HS Scheie disease mps type 1s Scheie's syndrome l-iduronidase deficiency, Scheie type mucopolysaccharidosis IH/S mucopolysaccharidosis type I mild form mucopolysaccharidosis type I-S mucopolysaccharidosis type Ih/S Hurler-Scheie syndrome MONDO:0011760 Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development. https://github.com/monarch-initiative/mondo/issues/4948 MPS I S MPS1S MPSIS Scheie syndrome mucopolysaccharidosis type 1S mucopolysaccharidosis type IS mucopolysaccharidosis type V MPS V MPS V, formerly MPS1-S MPS5, formerly mucopolysaccharidosis Is mucopolysaccharidosis type V, formerly Scheie syndrome https://rarediseases.info.nih.gov/diseases/12561/scheie-syndrome MONDO:0011761 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p24.1-p22.3. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA21 autosomal dominant deafness 21 autosomal dominant nonsyndromic deafness 21 autosomal dominant nonsyndromic deafness type 21 deafness, autosomal dominant 21 autosomal dominant nonsyndromic hearing loss 21 MONDO:0011762 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOA gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB22 OTOA autosomal recessive nonsyndromic deafness autosomal recessive deafness 22 autosomal recessive nonsyndromic deafness 22 autosomal recessive nonsyndromic deafness caused by mutation in OTOA autosomal recessive nonsyndromic deafness type 22 deafness, autosomal recessive 22 deafness, autosomal recessive type 22 autosomal recessive nonsyndromic hearing loss 22 MONDO:0011764 Any Parkinson disease in which the cause of the disease is a mutation in the LRRK2 gene. https://github.com/monarch-initiative/mondo/issues/4521 LRRK2 Parkinson disease Parkinson disease 8 Parkinson disease caused by mutation in LRRK2 autosomal dominant Parkinson disease 8 autosomal dominant Parkinson disease type 8 PARK8 Parkinson disease 8, autosomal dominant autosomal dominant Parkinson's disease 8 autosomal dominant Parkinson disease 8 MONDO:0011765 Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission. https://github.com/monarch-initiative/mondo/issues/4948 BHMED EDM5 MATN3 multiple epiphyseal dysplasia (disease) MED5 Polyepiphyseal dysplasia type 5 bilateral hereditary micro-epiphyseal dysplasia epiphyseal dysplasia, multiple, type 5 multiple epiphyseal dysplasia (disease) caused by mutation in MATN3 Microepiphyseal dysplasia, bilateral hereditary epiphyseal dysplasia multiple 5 epiphyseal dysplasia, multiple, 5 multiple epiphyseal dysplasia 5 multiple epiphyseal dysplasia, MATN3 related multiple epiphyseal dysplasia, MATN3-related multiple epiphyseal dysplasia type 5 MONDO:0011766 https://github.com/monarch-initiative/mondo/issues/4521 46XY gonadal dysgenesis with minifascicular neuropathy 46,XY gonadal dysgenesis, partial, with MINIFASCICULAR neuropathy 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome MONDO:0011767 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the WHRN gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB31 WHRN autosomal recessive nonsyndromic deafness autosomal recessive deafness 31 autosomal recessive nonsyndromic deafness 31 autosomal recessive nonsyndromic deafness caused by mutation in WHRN autosomal recessive nonsyndromic deafness type 31 deafness, autosomal recessive 31 deafness, autosomal recessive type 31 whirler, mouse, homolog of autosomal recessive nonsyndromic hearing loss 31 MONDO:0011768 myasthenia gravis with thymus hyperplasia Myas1 myasthenia gravis with thymus hyperplasia MONDO:0011770 aortic aneurysm, familial thoracic 2 AAT2 FAA2 aortic aneurysm, familial thoracic 2 MONDO:0011771 Distal spinal muscular atrophy type 3 is a rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction. https://github.com/monarch-initiative/mondo/issues/4521 autosomal recessive distal spinal muscular atrophy type 3 dHMN3 and dHMN4 dSMA3 distal hereditary motor neuropathy type 3 and type 4 spinal muscular atrophy, chronic distal, autosomal recessive HMN 3 HMN 4 dHMN3 dHMN4 neuronopathy, distal hereditary motor, type 3 neuronopathy, distal hereditary motor, type 4 neuropathy, distal hereditary motor, type 4 spinal muscular atrophy, distal, autosomal recessive, 3 distal spinal muscular atrophy type 3 MONDO:0011772 B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase. B4GALT1-CDG B4GALT1-congenital disorder of glycosylation Beta-1,4-galactosyltransferase deficiency CDG syndrome type IId CDG-IId CDG2D carbohydrate deficient glycoprotein syndrome type IId congenital disorder of glycosylation type 2d congenital disorder of glycosylation type IId B4GALT1-CDG (CDG-IId) CDG 2D CDG IId congenital disorder of glycosylation, type IId B4GALT1-congenital disorder of glycosylation MONDO:0011773 A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation. anauxetic dysplasia anauxetic dysplasia type 1 spondyloepimetaphyseal dysplasia, Menger type spondyloepimetaphyseal dysplasia, anauxetic type spondylometaepiphyseal dysplasia, Menger type ANXD1 anauxetic dysplasia 1 spondylometaepiphyseal dysplasia Menger type spondylometaepiphyseal dysplasia anauxetic type spondylometaepiphyseal dysplasia, anauxetic type Editor note: consider distinct subclass for type 1 anauxetic dysplasia MONDO:0011774 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO3A gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB30 MYO3A autosomal recessive nonsyndromic deafness autosomal recessive deafness 30 autosomal recessive nonsyndromic deafness 30 autosomal recessive nonsyndromic deafness caused by mutation in MYO3A autosomal recessive nonsyndromic deafness type 30 deafness, autosomal recessive 30 deafness, autosomal recessive type 30 autosomal recessive nonsyndromic hearing loss 30 MONDO:0011775 Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the TP53 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 TP53 nasopharyngeal carcinoma nasopharyngeal carcinoma 1 nasopharyngeal carcinoma caused by mutation in TP53 nasopharyngeal carcinoma, somatic nasopharyngeal carcinoma, susceptibility to, 1 NPC Npca nasopharyngeal cancer nasopharyngeal carcinoma nasopharyngeal carcinoma, susceptibility to, 1 MONDO:0011776 Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs. https://github.com/monarch-initiative/mondo/issues/4948 CINCA syndrome CINCA/NOMID IOMID syndrome NOMID NOMID syndrome Prieur-Griscelli syndrome chronic infantile neurological cutaneous and articular syndrome chronic infantile neurological cutaneous articular syndrome chronic neurologic cutaneous and articular syndrome cryopyrin-associated periodic syndrome 3 infantile-onset multisystem inflammatory disease neonatal-onset multisystem inflammatory disease CINCA Cryopyrin-associated periodic syndrome 3 IOMID Prieur Griscelli syndrome infantile onset multisystem inflammatory disease multisystem inflammatory disease, neonatal-onset neonatal onset multisystem inflammatory disease CINCA syndrome MONDO:0011777 An Alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21. AD8 Alzheimer disease 8 Alzheimer disease type 8 Alzheimer disease, familial 8 Alzheimer's disease 8 Alzheimer's disease type 8 Ad8 Alzheimer disease, familial, 8 Alzheimer disease 8 MONDO:0011778 Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia, macrocephaly and facial dysmorphism. multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome AGBK AL-Gazali-BAKALINOVA syndrome Al-Gazali-Bakalinova syndrome Mmedf macrocephaly with multiple epiphyseal dysplasia and distinctive facies multiple epiphyseal dysplasia, Al-Gazali type MONDO:0011779 laryngeal atresia, encephalocele, and limb deformities Lel laryngeal atresia, encephalocele, and limb deformities MONDO:0011780 https://github.com/monarch-initiative/mondo/issues/4521 SLI3 specific language impairment 3 specific language impairment QTL, 3 specific language impairment quantitative trait locus on chromosome 13 specific language impairment 3 MONDO:0011781 A rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy. https://github.com/monarch-initiative/mondo/issues/3805 https://github.com/monarch-initiative/mondo/issues/4444 CPD2 HDL4 Huntington disease-like 4 OPCA V OPCA with dementia and extrapyramidal signs SCA 17 SCA17 cerebelloparenchymal disorder II olivopontocerebellar atrophy 5 olivopontocerebellar atrophy type 5 spinocerebellar ataxia 17 spinocerebellar ataxia type 17 CPD, late-onset recessive type olivopontocerebellar atrophy V spinocerebellar ataxia type 17 MONDO:0011782 Small breaks in the elastin-filled tissue of the retina. angioid streaks angioid streaks MONDO:0011783 A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33). ALG12-CDG ALG12-congenital disorder of glycosylation CDG syndrome type Ig CDG-Ig CDG1G CDGIg carbohydrate deficient glycoprotein syndrome type Ig congenital disorder of glycosylation type 1g congenital disorder of glycosylation type Ig mannosyltransferase 8 deficiency ALG12-CDG (CDG-Ig) CDG 1G CDG Ig congenital disorder of glycosylation, type Ig ALG12-congenital disorder of glycosylation MONDO:0011784 Any Moyamoya disease in which the cause of the disease is a mutation in the RNF213 gene. https://github.com/monarch-initiative/mondo/issues/4521 Moyamoya disease 2 Moyamoya disease caused by mutation in RNF213 Moyamoya disease type 2 RNF213 Moyamoya disease moyamoya disease 2, susceptibility to MYMY2 Moyamoya disease 2 MONDO:0011785 Autosomal dominant spastic paraplegia type 19 is a pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy. SPG19 autosomal dominant spastic paraplegia 19 autosomal dominant spastic paraplegia type 19 hereditary spastic paraplegia type 19 spastic paraplegia 19 spastic paraplegia 19, autosomal dominant hereditary spastic paraplegia 19 MONDO:0011786 Inflammation of the nasal mucous membranes caused by an IgE-mediated response to external allergens. The inflammation may also involve the mucous membranes of the sinuses, eyes, middle ear, and pharynx. Symptoms include sneezing, nasal congestion, rhinorrhea, and itching. It may lead to fatigue, drowsiness, and malaise thus causing impairment of the quality of life. https://github.com/monarch-initiative/mondo/issues/4521 allergic form of rhinitis allergic rhinitis atopic rhinitis pollenosis Perenial allergic rhinitis non-seasonal allergic rhinitis perennial allergic rhinitis seasonal allergic rhinitis Alrh allergic rhinitis MONDO:0011787 Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported. FKRP autosomal recessive limb-girdle muscular dystrophy LGMD-FKRP related LGMD2I MDDGC5 autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKRP limb-girdle muscular dystrophy due to FKRP deficiency muscular dystrophy limb-girdle type 2I muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 5 muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5 muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related limb-girdle muscular dystrophy type 2I muscular dystrophy, limb-girdle, type 2I muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 muscular dystrophy-dystroglycanopathy, limb-girdle, Frkp-related autosomal recessive limb-girdle muscular dystrophy type 2I MONDO:0011788 This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. multiple congenital anomalies syndrome with cloverleaf skull cloverleaf skull-multiple congenital anomalies syndrome MONDO:0011789 A meningioma that is transmitted from the parents to an offspring. https://github.com/monarch-initiative/mondo/issues/4521 meningioma familial meningioma hereditary meningioma hereditary meningioma (disease) meningioma, NF2-related, somatic meningioma, SIS-related meningioma, familial, susceptibility to susceptibility to familial meningioma familial meningioma MONDO:0011790 Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year. Amish lethal microcephaly MCPHA microcephaly, Amish type thiamine metabolism dysfunction syndrome 3 (microcephaly type) Amish lethal microcephaly https://rarediseases.info.nih.gov/diseases/8606/amish-lethal-microcephaly MONDO:0011792 Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOX2 gene. DUOX2 familial thyroid dyshormonogenesis familial thyroid dyshormonogenesis caused by mutation in DUOX2 thyroid dyshormonogenesis 6 thyroid dyshormonogenesis type 6 TDH6 hypothyroidism, congenital, due to dyshormonogenesis, 6 thyroid hormonogenesis, genetic defect in, 6 thyroid dyshormonogenesis 6 MONDO:0011793 https://github.com/monarch-initiative/mondo/issues/4882 CELIAC5 celiac disease, susceptibility to, 5 GSES gluten-sensitive enteropathy, susceptibility to, 5 celiac disease, susceptibility to, 5 MONDO:0011795 Anonychia-microcephaly syndrome is a multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely-spaced teeth. Teebi-Kaurah syndrome anonychia total with microcephaly anonychia, total, with microcephaly total anonychia congenita and microcephaly total anonychia with microcephaly anonychia-microcephaly syndrome https://rarediseases.info.nih.gov/diseases/709/anonychia-total-with-microcephaly MONDO:0011796 PEPS epilepsy, partial, with pericentral spikes Epps epilepsy, partial, with pericentral spikes MONDO:0011797 Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria. IAHSP spastic paralysis, infantile onset ascending spastic paralysis, infantile-onset ascending infantile-onset ascending hereditary spastic paralysis https://rarediseases.info.nih.gov/diseases/4914/infantile-onset-ascending-hereditary-spastic-paralysis MONDO:0011798 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration harp syndrome hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration MONDO:0011799 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 10p11.23-q21.1. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB33 autosomal recessive deafness 33 autosomal recessive nonsyndromic deafness 33 autosomal recessive nonsyndromic deafness type 33 deafness, autosomal recessive 33 autosomal recessive nonsyndromic hearing loss 33 MONDO:0011800 GLM4 glioma susceptibility 4 glioma susceptibility 4 MONDO:0011801 Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia. autosomal recessive spinocerebellar ataxia with axonal neuropathy spinocerebellar ataxia, autosomal recessive, with axonal neuropathy SCAN1 spinocerebellar ataxia type 1 with axonal neuropathy spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 spinocerebellar ataxia autosomal recessive with axonal neuropathy spinocerebellar ataxia with axonal neuropathy spinocerebellar ataxia with axonal neuropathy type 1 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 MONDO:0011802 https://github.com/monarch-initiative/mondo/issues/4521 hypercalciuria, absorptive hypercalciuria, absorptive, 1 hypercalciuria, absorptive, type 1 Hca1 hypercalciuria, absorptive, 1 MONDO:0011803 Autosomal recessive spastic paraplegia type 7 is a form of hereditary spastic paraplegia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia. SPG7 SPG7 hereditary spastic paraplegia autosomal recessive spastic paraplegia 7 hereditary spastic paraplegia 7 hereditary spastic paraplegia caused by mutation in SPG7 hereditary spastic paraplegia type 7 spastic paraplegia type 7 hereditary spastic paraplegia paraplegin type spastic paraplegia 7 spastic paraplegia 7, autosomal recessive hereditary spastic paraplegia 7 MONDO:0011804 Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses. https://github.com/monarch-initiative/mondo/issues/4521 ALPS with recurrent viral infections ALPS2B CASP8 autoimmune lymphoproliferative syndrome CEDS autoimmune lymphoproliferative syndrome caused by mutation in CASP8 autoimmune lymphoproliferative syndrome type IIB autoimmune lymphoproliferative syndrome with recurrent viral infections autoimmune lymphoproliferative syndrome, type IIB caspase 8 deficiency caspase 8 deficiency syndrome caspase eight deficiency state Ceds autoimmune lymphoproliferative syndrome, type 2B caspase-8 deficiency autoimmune lymphoproliferative syndrome type 2B MONDO:0011805 Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the PTGDR gene. https://github.com/monarch-initiative/mondo/issues/4521 PTGDR inherited susceptibility to asthma asthma, susceptibility to, 1 asthma-related traits, susceptibility to, 1 asthma-related traits, susceptibility to, type 1 inherited susceptibility to asthma caused by mutation in PTGDR AS1 ASRT1 asthma-related traits, susceptibility to, 1 MONDO:0011806 A benign, usually self-limited fibro-osseous lesion of the bone that affects infants and children. It usually arises from the cortical bone of the anterior mid-shaft of the tibia. Patients usually present with swelling or painless bowing of the tibia. Progression to adamantinoma has been reported in some cases. https://github.com/monarch-initiative/mondo/issues/4948 Kempson-Campanacci lesion OFD OSFD cortical fibrous dysplasia ossifying fibroma of long bones osteofibrous dysplasia osteofibrous dysplasia of bone tibia, bowing of, with pseudarthrosis and pectus excavatum osteofibrous dysplasia, susceptibility to osteofibrous dysplasia MONDO:0011807 https://github.com/monarch-initiative/mondo/issues/4521 SLEH1 systemic lupus erythematosus with hemolytic anemia systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1 systemic lupus erythematosus, hemolytic Anemia-related systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1 MONDO:0011808 A cataract that has material basis in mutation in the region 2p12. CTRCT27 cataract 27 cataract 27 nuclear progressive cataract type 27 Ccnp cataract 27, nuclear progressive cataract 27 MONDO:0011810 Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla. HGPPS progressive external ophthalmoplegia and scoliosis gaze palsy, familial horizontal, with progressive scoliosis gaze palsy, horizontal, with progressive scoliosis ophthalmoplegia, progressive external, and scoliosis horizontal gaze palsy with progressive scoliosis https://rarediseases.info.nih.gov/diseases/12682/horizontal-gaze-palsy-with-progressive-scoliosis MONDO:0011811 Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome is a rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances. SCAR4 SCASI spinocerebellar ataxia 24 spinocerebellar ataxia 24 (formerly) spinocerebellar ataxia 24, formerly spinocerebellar ataxia autosomal recessive 4 spinocerebellar ataxia with saccadic Intrusions spinocerebellar ataxia, autosomal recessive 4 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome MONDO:0011812 A syndrome of multiple congenital anomalies and is characterized by ocular manifestations (uni- or bilateral Duane anomaly (95% of cases), congenital optic nerve hypoplasia or optic disc coloboma), bilateral deafness and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs; hypoplasia or aplasia of the radii; shortening and radial deviation of the forearms; triphalangeal thumbs; and duplication of the thumb (preaxial polydactyly).The phenotype overlaps with other SALL4>/i> related disorders including acro-renal-ocular syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant. https://github.com/monarch-initiative/mondo/issues/4948 DR syndrome DRRS Duane anomaly with radial ray abnormalities and deafness Duane-radial ray syndrome Okihiro syndrome acro-renal-ocular syndrome acrorenocular syndrome Duane anomaly with radial abnormalities and deafness Duane-radial ray syndrome https://rarediseases.info.nih.gov/diseases/9182/duane-radial-ray-syndrome MONDO:0011813 polydactyly, postaxial, type A3 PAPA3 Papa3 postaxial polydactyly, type A3 polydactyly, postaxial, type A3 MONDO:0011814 Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the DYM gene. https://github.com/monarch-initiative/mondo/issues/4521 Smith-McCort dysplasia DYM Smith-McCort dysplasia Smith-McCort dysplasia 1 Smith-McCort dysplasia caused by mutation in DYM Smith-McCort dysplasia type 1 SMC SMITH-McCort dysplasia 1 Smc1 Smith-McCort dysplasia 1 MONDO:0011815 https://github.com/monarch-initiative/mondo/issues/4882 hypertension, essential, susceptibility to, 3 hypertension, essential, susceptibility to, type 3 Hyt3 hypertension, essential, susceptibility to, 3 MONDO:0011816 Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease. lathosterolosis sterol C5-desaturase deficiency Sc5D deficiency lathosterolosis https://rarediseases.info.nih.gov/diseases/9711/lathosterolosis MONDO:0011817 Any coronary artery disease in which the cause of the disease is a mutation in the CX3CR1 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 CX3CR1 coronary artery disease coronary artery disease caused by mutation in CX3CR1 coronary artery disease, resistance to coronary heart disease, susceptibility to coronary heart disease, susceptibility to, 1 coronary heart disease, susceptibility to, type 1 Chds1 coronary heart disease, susceptibility to, 1 MONDO:0011818 https://github.com/monarch-initiative/mondo/issues/4521 FCD type II cortical dysplasia, Taylor type focal cortical dysplasia, type II, somatic isolated focal cortical dysplasia type 2 CDT FCD 2A FCD 2B FCDT FCORD2 Fcd2 cortical dysplasia of Taylor cortical dysplasia of Taylor with balloon cells cortical dysplasia of Taylor without balloon cells cortical dysplasia of Taylor, dysplasia only focal cortical dysplasia of Taylor focal cortical dysplasia of Taylor, type 2A focal cortical dysplasia of Taylor, type 2B focal cortical dysplasia type 2 focal cortical dysplasia type II focal cortical dysplasia, type 2 focal cortical dysplasia, type 2A focal cortical dysplasia, type 2B focal cortical dysplasia, type II isolated focal cortical dysplasia type II https://rarediseases.info.nih.gov/diseases/10190/focal-cortical-dysplasia-of-taylor MONDO:0011819 Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor. SCA19/22 spinocerebellar ataxia type 19 SCA19 spinocerebellar ataxia 19 spinocerebellar ataxia 19 and 22 spinocerebellar ataxia 22 spinocerebellar ataxia type 19/22 MONDO:0011820 https://github.com/monarch-initiative/mondo/issues/4521 IS2 scoliosis, idiopathic 2 scoliosis, isolated, susceptibility to, 2 scoliosis, isolated, susceptibility to, 2 MONDO:0011821 Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM67 gene. https://github.com/monarch-initiative/mondo/issues/4948 MKS3 Meckel syndrome caused by mutation in TMEM67 Meckel syndrome, type 3 Meckel-Gruber syndrome, type 3 TMEM67 Meckel syndrome Meckel syndrome 3 Meckel syndrome type 3 Meckel syndrome, type 3 https://rarediseases.info.nih.gov/diseases/8744/meckel-syndrome-type-3 MONDO:0011822 Classic Bartter syndrome is a type of Bartter syndrome, characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II. BARTS3 Bartter disease type 3 Bartter syndrome type 3 Bartter syndrome type III adult Bartter syndrome classic Bartter syndrome Bartter syndrome classic Bartter syndrome, classic Bartter syndrome, type 3 Bartter syndrome, type 3, with hypocalciuria Bartter disease type 3 MONDO:0011823 Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome. DJO dystonia, juvenile-onset juvenile-onset dystonia developmental malformations-deafness-dystonia syndrome https://rarediseases.info.nih.gov/diseases/9818/juvenile-onset-dystonia MONDO:0011824 https://github.com/monarch-initiative/mondo/issues/4521 AUTS8 autism susceptibility 8, isolated cases autism, susceptibility to, 8 AUTS2 AUTS2, formerly autism, susceptibility to, 8 MONDO:0011825 streptococcus, group A, severity of infection by streptococcus, group A, severity of infection by MONDO:0011826 Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MRAP gene. MRAP familial glucocorticoid deficiency familial glucocorticoid deficiency caused by mutation in MRAP glucocorticoid deficiency 2 glucocorticoid deficiency type 2 GCCD2 familial glucocorticoid deficiency 2 glucocorticoid deficiency 2 MONDO:0011827 A congenital defect characterized by the failure of the ductus arteriosus to close soon after birth. As a consequence, blood from the aorta mixes with blood from the pulmonary artery. If untreated, it may lead to congestive heart failure. PDA patent ductus arteriosus patent ductus botalli persistent patency of the arterial duct ductus arteriosus, patent patency of the ductus arteriosus patent ductus arteriosus familial (type) patent ductus arteriosus https://rarediseases.info.nih.gov/diseases/7342/patent-ductus-arteriosus MONDO:0011828 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRBN gene. CRBN autosomal recessive non-syndromic intellectual disability autosomal recessive non-syndromic intellectual disability caused by mutation in CRBN intellectual disability, autosomal recessive 2 intellectual disability, autosomal recessive type 2 mental retardation, autosomal recessive type 2 MRT2 intellectual disability, autosomal recessive 2A mental retardation, autosomal recessive 2 mental retardation, autosomal recessive 2A intellectual disability, autosomal recessive 2 MONDO:0011829 Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ2 gene. COQ2 coenzyme Q10 deficiency coenzyme Q10 deficiency caused by mutation in COQ2 coenzyme Q10 deficiency, primary, 1 coenzyme Q10 deficiency, primary, type 1 COQ10D1 CoQ deficiency 1 Coq10 deficiency, primary, 1 coenzyme Q deficiency 1 ubiquinone deficiency 1 coenzyme Q10 deficiency, primary, 1 MONDO:0011830 Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia. PAFAH1B1-related lissencephaly LIS1 lissencephaly 1 lissencephaly sequence, isolated lissencephaly, classic subcortical band heterotopia subcortical laminar heterotopia lissencephaly due to LIS1 mutation MONDO:0011831 Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSP gene. ARVC8 ARVD8 DSP arrhythmogenic right ventricular cardiomyopathy arrhythmogenic right ventricular cardiomyopathy 8 arrhythmogenic right ventricular cardiomyopathy caused by mutation in DSP arrhythmogenic right ventricular dysplasia 8 arrhythmogenic right ventricular dysplasia type 8 arrhythmogenic right ventricular dysplasia, familial, type 8 familial arrhythmogenic right ventricular dysplasia 8 arrhythmogenic right ventricular dysplasia, familial, 8 arrhythmogenic right ventricular dysplasia 8 MONDO:0011832 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CCDC50 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 CCDC50 autosomal dominant nonsyndromic deafness DFNA44 autosomal dominant deafness 44 autosomal dominant nonsyndromic deafness 44 autosomal dominant nonsyndromic deafness caused by mutation in CCDC50 autosomal dominant nonsyndromic deafness type 44 deafness, autosomal dominant 44 deafness, autosomal dominant type 44 autosomal dominant nonsyndromic hearing loss 44 MONDO:0011833 Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity. SCA21 spinocerebellar ataxia type 21 spinocerebellar ataxia 21 spinocerebellar ataxia type 21 MONDO:0011834 Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by sensory neuropathy and cerebellar ataxia. SCA18 SMNA sensorimotor neuropathy with ataxia autosomal dominant sensorimotor neuropathy with ataxia, autosomal dominant spinocerebellar ataxia 18 spinocerebellar ataxia type 18 MONDO:0011835 A syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia. https://github.com/monarch-initiative/mondo/issues/4521 EPM5 PME type 5 PRICKLE2 progressive myoclonic epilepsy SANDO epilepsy, progressive myoclonic, type 5 mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) progressive myoclonic epilepsy caused by mutation in PRICKLE2 progressive myoclonus epilepsy type 5 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis epilepsy, progressive myoclonic, 5 epilepsy, progressive myoclonic, 5, formerly epilepsy, progressive myoclonic, with sensory ataxic neuropathy sensory ataxic neuropathy with mitochondrial DNA deletions, autosomal recessive sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome spinocerebellar ataxia with epilepsy sensory ataxic neuropathy, dysarthria, and ophthalmoparesis MONDO:0011836 Hurthle cell thyroid cancer Hurthle cell thyroid neoplasia follicular thyroid cancer, Hurthle cell type oncocytic carcinoma of the thyroid thyroid cancer, Hurthle cell thyroid cancer, follicular, Hurthle cell type thyroid carcinoma, Hurthle cell thyroid Hurthle cell carcinoma MONDO:0011837 Any congenital vitamin K-dependent coagulation factors combined deficiency in which the cause of the disease is a mutation in the VKORC1 gene. VKORC1 congenital vitamin K-dependent coagulation factors combined deficiency congenital vitamin K-dependent coagulation factors combined deficiency caused by mutation in VKORC1 vitamin K-dependent clotting factors, combined deficiency of, 2 vitamin K-dependent clotting factors, combined deficiency of, type 2 VKCFD2 vitamin K-dependent clotting factors, combined deficiency of, type 2 MONDO:0011838 A rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens in the posterior pole are also noted. Bothnia retinal dystrophy VC$sterbotten dystrophy Vasterbotten dystrophy Västerbotten dystrophy Bothnia retinal dystrophy MONDO:0011839 Any cone-rod dystrophy in which the cause of the disease is a mutation in the RLBP1 gene. NFRCD RLBP1 cone-rod dystrophy cone-rod dystrophy caused by mutation in RLBP1 Newfoundland ROD-cone dystrophy Newfoundland cone-rod dystrophy MONDO:0011840 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene. CMD1M CSRP3 familial isolated dilated cardiomyopathy cardiomyopathy, dilated, type 1M dilated cardiomyopathy type 1M familial isolated dilated cardiomyopathy caused by mutation in CSRP3 cardiomyopathy, dilated, 1M dilated cardiomyopathy 1M MONDO:0011841 https://github.com/monarch-initiative/mondo/issues/4205 https://github.com/monarch-initiative/mondo/issues/4521 BBGD BTBGD biotin-thiamine-responsive basal ganglia disease thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) thiamine-responsive encephalopathy THMD2 basal ganglia disease, biotin-responsive encephalopathy, thiamine-responsive thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type) biotin-responsive basal ganglia disease MONDO:0011842 A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has material basis in mutation in the GRN gene on chromosome 17q21.31. FTLD-TDP, GRN-related aphasia, primary progressive dementia, hereditary dysphasic disinhibition frontotemporal dementia with TDP43 inclusions, GRN-related frontotemporal dementia, ubiquitin-positive frontotemporal lobar degeneration with TDP43 inclusions, GRN-related frontotemporal lobar degeneration with ubiquitin-positive inclusions GRN-related frontotemporal lobar degeneration with Tdp43 inclusions MONDO:0011843 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TCAP gene. https://github.com/monarch-initiative/mondo/issues/4521 CMH25 TCAP hypertrophic cardiomyopathy Tcap hypertrophic cardiomyopathy cardiomyopathy familial hypertrophic 25 cardiomyopathy, familial hypertrophic, type 25 cardiomyopathy, hypertrophic, 25 hypertrophic cardiomyopathy caused by mutation in TCAP hypertrophic cardiomyopathy type 25 cardiomyopathy, familial hypertrophic, 25 hypertrophic cardiomyopathy 25 MONDO:0011844 A myoclonic dystonia characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 18p11. https://github.com/monarch-initiative/mondo/issues/4521 dystonia-15, myoclonic myoclonic dystonia type 15 DYT15 dystonia 15, myoclonic myoclonic dystonia 15 MONDO:0011845 migraine with or without aura, susceptibility to, 3 migraine with or without aura, susceptibility to, type 3 MGR3 migraine with or without aura, susceptibility to, 3 MONDO:0011846 https://github.com/monarch-initiative/mondo/issues/1705 https://github.com/monarch-initiative/mondo/issues/4521 bulimia nervosa, susceptibility to BULN1 bulimia nervosa, susceptibility to, 1 bulimia nervosa, susceptibility to, 2 bulimia nervosa, susceptibility to, type 2 susceptibility to bulimia nervosa 2 BN BULN BULN2 anorexia nervosa, susceptibility to, 2 bulimia nervosa, susceptibility to, 1 MONDO:0011847 An inherited susceptibility or predisposition to developing migraines without aura. https://github.com/monarch-initiative/mondo/issues/3984 MGR4 migraine without aura, susceptibility to, 4 migraine without aura, susceptibility to, type 4 MGOA common migraine migraine without aura, susceptibility to, 4 MONDO:0011848 headache associated with sexual activity HSA benign sexual headache headache associated with sexual activity MONDO:0011849 Joint inflammation associated with psoriasis. arthritis psoriatica arthropathic psoriasis psoriatic arthritis, susceptibility to psoriatic arthritis, susceptibility to, 1 psoriatic arthropathy susceptibility to psoriatic arthritis psoriatic arthritis MONDO:0011850 migraine with or without aura, susceptibility to, 5 migraine with or without aura, susceptibility to, type 5 Mgr5 migraine with or without aura, susceptibility to, 5 MONDO:0011851 migraine with or without aura, susceptibility to, 6 migraine with or without aura, susceptibility to, type 6 MGR6 migraine, familial hemiplegic, 4 migraine with or without aura, susceptibility to, 6 MONDO:0011852 Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the COL7A1 gene. COL7A1 inherited isolated nail anomaly inherited isolated nail anomaly caused by mutation in COL7A1 nail disorder, nonsyndromic congenital, type 8 nonsyndromic congenital nail disorder type 8 NDNC8 nail disorder, nonsyndromic congenital, 8 toenail dystrophy, isolated nonsyndromic congenital nail disorder 8 MONDO:0011853 camptosynpolydactyly, complex CCSPD camptopolydactyly, disorganization type Camptosynpolydactyly, complex MONDO:0011854 secretory diarrhea, myopathy, and deafness secretory diarrhea, myopathy, and deafness MONDO:0011855 Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment. Avellino corneal dystrophy CGD2 GCD2 GCDII avellino corneal dystrophy combined granular-lattice corneal dystrophy granular corneal dystrophy type 2 granular-lattice corneal dystrophy ACD CDA combined granular-lattice corneal dystrophies corneal dystrophy Avellino type corneal dystrophy, AVELLINO type granular and lattice corneal dystrophies granular corneal dystrophy, type 2 granular-lattice (Avellino) corneal dystrophy granular corneal dystrophy type II MONDO:0011856 SmD with bowed forearms and Facial Dysmorphism SmD with with bowed forearms and facial dysmorphism spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome MONDO:0011857 Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNQ1 gene. KCNQ1 familial atrial fibrillation atrial fibrillation, familial, 3 atrial fibrillation, familial, type 3 familial atrial fibrillation caused by mutation in KCNQ1 ATFB3 atrial fibrillation, familial, 3 MONDO:0011858 spastic paraplegia, ataxia, and intellectual disability spastic paraplegia, ataxia, and mental retardation Spar spastic paraplegia, ataxia, and intellectual disability MONDO:0011860 https://github.com/monarch-initiative/mondo/issues/2760 LPRS2 leprosy, susceptibility to, 2 leprosy, susceptibility to, 2 MONDO:0011861 breath-holding Spells Bhs breath-holding Spells MONDO:0011862 A hereditary spastic paraplegia that has material basis in variation in the chromosome region 13q14. SPG24 autosomal recessive spastic paraplegia 24 autosomal recessive spastic paraplegia type 24 hereditary spastic paraplegia type 24 spastic paraplegia 24 spastic paraplegia 24, autosomal recessive hereditary spastic paraplegia 24 MONDO:0011863 https://github.com/monarch-initiative/mondo/issues/4521 prostate cancer aggressiveness QTL prostate cancer aggressiveness quantitative trait locus on chromosome 19 prostate cancer aggressiveness quantitative trait locus on chromosome type 19 HPCqtl19 prostate cancer aggressiveness quantitative trait locus on chromosome 19 MONDO:0011864 immunodeficiency, common variable, 1 immunodeficiency, common variable, type 1 CVID1 antibody deficiency due to Icos defect immunodeficiency, common variable immunodeficiency, common variable, 1 MONDO:0011866 Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VRK1 gene. VRK1 non-syndromic pontocerebellar hypoplasia non-syndromic pontocerebellar hypoplasia caused by mutation in VRK1 PCH1A Pch1 pontocerebellar hypoplasia with anterior horn cell disease pontocerebellar hypoplasia with infantile spinal muscular atrophy pontocerebellar hypoplasia, type 1A pontocerebellar hypoplasia type 1A MONDO:0011867 microphthalmia with cyst, bilateral facial clefts, and limb anomalies microphthalmia with cyst, bilateral facial clefts, and limb anomalies MONDO:0011868 Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported. https://github.com/monarch-initiative/mondo/issues/4521 ERBB3 lethal congenital contracture syndrome LCCS2 lethal congenital contractural syndrome 2 lethal congenital contracture syndrome 2 lethal congenital contracture syndrome caused by mutation in ERBB3 lethal congenital contracture syndrome type 2 multiple contracture syndrome, Israeli-Bedouin type multiple contracture syndrome, Israeli Bedouin type multiple contracture syndrome, Israeli Bedouin type a lethal congenital contracture syndrome 2 https://rarediseases.info.nih.gov/diseases/9177/lethal-congenital-contracture-syndrome-2 MONDO:0011869 Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized or acral superficial erosions in the absence of blisters. EBSS epidermolysis bullosa simplex superficialis epidermolysis bullosa simplex superficialis MONDO:0011870 Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities. AEI Ciehk epidermolytic ichthyosis, annular ichthyosis, cyclic, with epidermolytic hyperkeratosis annular epidermolytic ichthyosis MONDO:0011871 Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea https://github.com/monarch-initiative/mondo/issues/4984 type B Niemann-Pick disease Niemann Pick disease type B Niemann-PICK disease, type B Niemann-Pick disease, Intermediate, with visceral involvement and rapid progression Niemann-Pick disease, type E Niemann-Pick disease, type F Niemann-Pick disease type B https://rarediseases.info.nih.gov/diseases/10729/niemann-pick-disease-type-b MONDO:0011872 Griscelli syndrome type 2 (GS2) is a rare, inherited condition that affects the skin, hair, and immune system. People with GS2 have unusually light skin and silver-colored hair. They are also prone to recurrent infections and develop an immune condition called hemophagocytic lymphohistiocytosis (HLH). HLH can damage organs and tissues throughout the body, causing life-threatening complications. GS2 is caused by changes (mutations) in the RAB27A gene and is inherited in an autosomal recessive manner. The only current treatment that can extend survival is stem cell transplantation (a bone marrow transplant). Untreated, most children with GS2 do not survive past early childhood. GS2 Griscelli syndrome type 2 Griscelli syndrome with hemophagocytic syndrome Griscelli-PruniC)ras syndrome type 2 Griscelli-Pruniéras syndrome type 2 Griscelli-Pruni��ras syndrome type 2 PAID syndrome hypopigmentation-immunodeficiency with or without neurologic impairment syndrome partial albinism and immunodeficiency syndrome Griscelli disease type 2 Griscelli syndrome, type 2 Paid syndrome Griscelli syndrome type 2 https://rarediseases.info.nih.gov/diseases/4483/griscelli-syndrome-type-2 MONDO:0011873 Niemann-Pick disease type C2 is a rare metabolic condition that affects many different parts of the body. Although signs and symptoms can develop at any age (infancy through adulthood), most affected people develop features of the condition during childhood. Neimann-Pick disease type C2 may be characterized by ataxia (difficulty coordinating movements), vertical supranuclear gaze palsy (inability to move the eyes vertically), poor muscle tone, hepatosplenomegaly (enlarged liver and spleen), interstitial lung disease, intellectual decline, seizures, speech problems, and difficulty swallowing. Niemann-Pick disease type C2 is caused by changes (mutations) in the NPC2 gene and is inherited in an autosomal recessive manner. There is, unfortunately, no cure for Niemann-Pick disease type C2. Treatment is based on the signs and symptoms present in each person. NPC2 Niemann-Pick disease, type C2 type C2 Niemann-Pick disease Niemann-PICK disease, type C2 Niemann-Pick disease type C2 Niemann-Pick disease, type C2 https://rarediseases.info.nih.gov/diseases/3992/niemann-pick-disease-type-c2 MONDO:0011874 Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. IHSC NISCH syndrome ichthyosis-hypotrichosis-sclerosing cholangitis syndrome neonatal ichthyosis-sclerosing cholangitis syndrome ILVASC Ilvasc Nisch syndrome ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis ichthyosis-sclerosing cholangitis syndrome neonatal ichthyosis-sclerosing cholangitis syndrome MONDO:0011875 An inherited susceptibility or predisposition to developing epilepsy, idiopathic generalized, in which the cause of the disease is a mutation in the CLCN2 gene. https://github.com/monarch-initiative/mondo/issues/2543 CLCN2 generalised epilepsy EIG11 epilepsy, idiopathic generalized, susceptibility to, 11 epilepsy, idiopathic generalized, susceptibility to, type 11 generalised epilepsy caused by mutation in CLCN2 epilepsy, juvenile absence, susceptibility to, 2 epilepsy, juvenile myoclonic, susceptibility to, 8 susceptibility to idiopathic generalized epilepsy 11 epilepsy, idiopathic generalized, susceptibility to, 11 MONDO:0011876 Juvenile absence epilepsy (JAE) is a genetic epilepsy with onset occurring around puberty. JAE is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks. JAE epilepsy, juvenile absence, susceptibility to, type 1 EJA1 epilepsy juvenile absence epilepsy, juvenile absence, susceptibility to, 1 susceptibility to juvenile absence epilepsy 1 juvenile absence epilepsy MONDO:0011877 Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault. LRP5 osteopetrosis (disease) OPTA1 autosomal dominant osteopetrosis type 1 osteopetrosis (disease) caused by mutation in LRP5 osteopetrosis, autosomal dominant type 1 osteopetrosis autosomal dominant type 1 osteopetrosis, autosomal dominant 1 osteopetrosis, autosomal dominant, type 1 autosomal dominant osteopetrosis 1 MONDO:0011879 Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the DCTN1 gene. DCTN1 neuronopathy, distal hereditary motor neuronopathy, distal hereditary motor caused by mutation in DCTN1 Dhmn7B HMN 7B HMN7B Lower motor neuron disease, dynactin type neuronopathy, distal hereditary motor, type VIIB neuropathy, distal hereditary motor, type 7B neuropathy, distal hereditary motor, with vocal cord paralysis, type 7B neuronopathy, distal hereditary motor, type 7B MONDO:0011880 CANDF3 candidiasis, familial, 3 Fcnc candidiasis, familial chronic nail, with Icam1 deficiency candidiasis, familial, 3 MONDO:0011881 Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT1 gene. KRT1 striate palmoplantar keratoderma keratosis palmoplantaris striata type 3 striate palmoplantar keratoderma caused by mutation in KRT1 PPKS3 keratoderma palmoplantar striate form 3 keratoderma, palmoplantar, striate form 3 keratosis palmoplantaris striata III striate palmoplantar keratoderma 3 keratosis palmoplantaris striata 3 https://rarediseases.info.nih.gov/diseases/9173/keratosis-palmoplantaris-striata-3 MONDO:0011882 skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome SFWHS skin fragility woolly hair syndrome skin fragility-woolly hair syndrome skin fragility-woolly hair-palmoplantar keratoderma syndrome https://rarediseases.info.nih.gov/diseases/5231/skin-fragility-woolly-hair-palmoplantar-keratoderma-syndrome MONDO:0011883 Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age. CHACS Chac syndrome Curly hair - acral keratoderma - caries syndrome Chacs Curly hair - acral keratoderma - caries syndrome https://rarediseases.info.nih.gov/diseases/10163/curly-hair-acral-keratoderma-caries-syndrome MONDO:0011884 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed. HOPP syndrome hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome Hopp syndrome hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome MONDO:0011885 An autoimmune disorder comprising tubulointerstitial nephritis and uveitis. Dobrin syndrome TINU syndrome Tubulointerstitial nephritis and uveitis acute tubulointerstitial nephritis and uveitis syndrome TINU TUBULOINTERSTITIAL nephritis with uveitis acute Tubulointerstitial nephritis tubulointerstitial nephritis and uveitis syndrome MONDO:0011886 DYT13 type primary dystonia is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement. DYT13 primary dystonia with mixed phenotype primary torsion dystonia with predominant craniocervical or upper limb onset torsion dystonia type 13 dystonia 13, torsion, autosomal dominant primary dystonia, DYT13 type torsion dystonia 13 MONDO:0011887 https://github.com/monarch-initiative/mondo/issues/4069 cataract, congenital, with mental impairment and dentate gyrus atrophy cataract, congenital, with mental impairment and dentate gyrus atrophy MONDO:0011888 An immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria. IRAK4 deficiency immunodeficiency 67 immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency invasive pneumococcal disease, recurrent isolated, 1 invasive pneumococcal disease, recurrent isolated, type 1 IPD1 IRAK-4 deficiency IRAK4D Interleukin receptor-associated kinase deficiency invasive pneumococcal disease, protection against immunodeficiency 67 MONDO:0011889 Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes. https://github.com/monarch-initiative/mondo/issues/4521 CMT2I Charcot-Marie-Tooth disease, type 2I Charcot-Marie-Tooth neuropathy type 2I CMT 2I Charcot Marie Tooth disease type 2I Charcot-Marie-Tooth disease, axonal, type 2I Charcot-Marie-Tooth neuropathy, type 2I autosomal dominant Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease type 2I https://rarediseases.info.nih.gov/diseases/9197/charcot-marie-tooth-disease-type-2i MONDO:0011890 A form of CMT1, caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis. https://github.com/monarch-initiative/mondo/issues/4521 CMT1D Charcot-Marie-Tooth disease type 1 caused by mutation in EGR2 Charcot-Marie-Tooth disease, type 1D Charcot-Marie-Tooth neuropathy type 1D EGR2 Charcot-Marie-Tooth disease type 1 HMSN ID HMSN1D hereditary motor and sensory neuropathy 1D CMT 1D Charcot Marie Tooth disease type 1D Charcot-Marie-Tooth disease, demyelinating, type 1D Charcot-Marie-Tooth neuropathy, type 1D HMSN 1D Charcot-Marie-Tooth disease type 1D https://rarediseases.info.nih.gov/diseases/9189/charcot-marie-tooth-disease-type-1d MONDO:0011891 A childhood absence epilepsy that is characterized by mutations in the GABRG2 gene, which cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures (FS) to childhood absence epilepsy (CAE) to generalized epilepsy with febrile seizures plus, type 3 (GEFS+3), which tends to represent a more severe phenotype. GABRG2 childhood absence epilepsy GABRG2 generalized epilepsy with febrile seizures plus childhood absence epilepsy caused by mutation in GABRG2 generalized epilepsy with febrile seizures plus caused by mutation in GABRG2 generalized epilepsy with febrile seizures plus, type 3 ECA2 GEFSP3 Gefs+, type 3 epilepsy, childhood absence, susceptibility to, 2 epilepsy, childhood absence, susceptibility to, type 2 susceptibility to childhood absence epilepsy 2 febrile seizures, familial, 8 MONDO:0011892 Any generalised epilepsy in which the cause of the disease is a mutation in the CACNB4 gene. https://github.com/monarch-initiative/mondo/issues/2543 CACNB4 generalised epilepsy epilepsy, idiopathic generalized, susceptibility to, 9 epilepsy, idiopathic generalized, susceptibility to, type 9 generalised epilepsy caused by mutation in CACNB4 EIG9 epilepsy, juvenile myoclonic, susceptibility to, 6 susceptibility to idiopathic generalized epilepsy 9 epilepsy, idiopathic generalized, susceptibility to, 9 MONDO:0011893 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31.1-q32. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA52 autosomal dominant deafness 52 autosomal dominant nonsyndromic deafness 52 autosomal dominant nonsyndromic deafness type 52 deafness, autosomal dominant 42 deafness, autosomal dominant 52 autosomal dominant nonsyndromic hearing loss 52 MONDO:0011894 Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor. https://github.com/monarch-initiative/mondo/issues/4521 CMT2E Charcot-Marie-Tooth disease type 2 caused by mutation in NEFL Charcot-Marie-Tooth disease, type 2E Charcot-Marie-Tooth neuropathy type 2E NEFL Charcot-Marie-Tooth disease type 2 autosomal dominant Charcot-Marie-Tooth disease type 2E CMT 2E Charcot Marie Tooth disease type 2E Charcot-Marie-Tooth disease, axonal, type 2E Charcot-Marie-Tooth neuropathy, type 2E Charcot-Marie-Tooth disease type 2E https://rarediseases.info.nih.gov/diseases/9193/charcot-marie-tooth-disease-type-2e MONDO:0011895 https://github.com/monarch-initiative/mondo/issues/4521 hypereosinophilic syndrome, idiopathic, resistant to imatinib, isolated cases, somatic mutation HES hypereosinophilic syndrome, idiopathic idiopathic hypereosinophilic syndrome MONDO:0011896 An inherited susceptibility or predisposition to developing late onset Parkinson disease, in which the cause of the disease is a mutation in the GIGYF2 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 GIGYF2 hereditary late onset Parkinson disease Parkinson disease 11 Parkinson disease 11, autosomal dominant, susceptibility to hereditary late onset Parkinson disease caused by mutation in GIGYF2 PARK11 susceptibility to autosomal dominant Parkinson disease 11 Parkinson disease 11, autosomal dominant, susceptibility to MONDO:0011897 A syndrome is characterised by ataxia, delayed dentition, hypomyelination and cerebral atrophy. So far, eight cases have been described. HLD7 ataxia-delayed dentition-hypomyelination syndrome ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome 4H syndrome ataxia, delayed dentition, and hypomyelination dentoleukoencephalopathy hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome MONDO:0011898 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive CMT2 with vocal cord paresis, autosomal recessive Charcot-Marie-Tooth disease, type 4A, axonal form Charcot-Marie-Tooth neuropathy, axonal, with vocal cord paresis, autosomal recessive Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive MONDO:0011899 Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome ; a distinctive hair anomaly described as loose anagen hair syndrome ; frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis ; and short stature, often associated with a GH deficiency and psychomotor delays. NS/LAH Noonan syndrome-like disorder with loose anagen hair Tosti syndrome NSLH NSLH1 Noonan syndrome-like disorder with loose anagen hair 1 Noonan-like syndrome with loose anagen hair Noonan syndrome-like disorder with loose anagen hair MONDO:0011900 https://github.com/monarch-initiative/mondo/issues/4521 POROK4 porokeratosis 4, disseminated superficial actinic porokeratosis 4, disseminated superficial actinic type porokeratosis, disseminated superficial actinic, 2 porokeratosis 4, disseminated superficial actinic type MONDO:0011901 Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement. AR-CMT2C CMT2H Charcot-Marie-Tooth disease type 2H autosomal recessive axonal CMT4C2 autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features axonal Charcot-Marie-Tooth disease with pyramidal involvement CMT 2H Charcot Marie Tooth disease type 2H Charcot-Marie-Tooth disease, axonal, type 2H Charcot-Marie-Tooth disease, axonal, with pyramidal features, autosomal recessive Charcot-Marie-Tooth neuropathy, axonal, with pyramidal features, autosomal recessive Not in the OMIM series. Charcot-Marie-Tooth disease axonal type 2H MONDO:0011902 A form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the NEFL gene (8p21.2).. https://github.com/monarch-initiative/mondo/issues/4521 CMT1F Charcot-Marie-Tooth disease type 1 caused by mutation in NEFL Charcot-Marie-Tooth disease, type 1F Charcot-Marie-Tooth neuropathy type 1F NEFL Charcot-Marie-Tooth disease type 1 CMT 1F Charcot Marie Tooth disease type 1F Charcot-Marie-Tooth disease, demyelinating, type 1F Charcot-Marie-Tooth neuropathy, type 1F Charcot-Marie-Tooth disease type 1F https://rarediseases.info.nih.gov/diseases/9191/charcot-marie-tooth-disease-type-1f MONDO:0011903 Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy. https://github.com/monarch-initiative/mondo/issues/4521 CMT2J Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities Charcot-Marie-Tooth disease, type 2J Charcot-Marie-Tooth neuropathy type 2J CMT 2J Charcot Marie Tooth disease type 2J Charcot-Marie-Tooth disease, axonal, type 2J Charcot-Marie-Tooth disease, type 2, with hearing loss and pupillary abnormalities Charcot-Marie-Tooth neuropathy, type 2J autosomal dominant Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease type 2J https://rarediseases.info.nih.gov/diseases/9198/charcot-marie-tooth-disease-type-2j MONDO:0011904 Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN2A gene. https://github.com/monarch-initiative/mondo/issues/4073 BFNIS SCN2A benign familial infantile epilepsy benign familial infantile epilepsy caused by mutation in SCN2A benign familial neonatal-infantile seizures benign neonatal-infantile epilepsy seizures, benign familial infantile, 3 seizures, benign familial infantile, type 3 BFIS3 benign familial infantile convulsions convulsions benign familial neonatal convulsions, benign familial infantile, 3 epilepsy, benign neonatal-infantile seizures, benign familial neonatal-infantile seizures, benign familial infantile, 3 MONDO:0011906 Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption. 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency type 1 BASD1 CBAS1 HSD3B7 congenital bile acid synthesis defect bile acid synthesis defect, congenital, type 1 congenital bile acid synthesis defect 1 congenital bile acid synthesis defect caused by mutation in HSD3B7 congenital bile acid synthesis defect type 1 3-Beta-hydroxy-Delta-5-C27-steroid oxidoreductase deficiency 3-alpha beta-hydroxy-delta-5-C27-steroid oxidoreductase, deficiency of bile acid synthesis defect, congenital, 1 congenital bile acid synthesis defect, type 1 congenital bile acid synthesis defect 1 MONDO:0011907 Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax. https://github.com/monarch-initiative/mondo/issues/4948 acrocapitofemoral dysplasia ACFD acrocapitofemoral dysplasia https://rarediseases.info.nih.gov/diseases/10605/acrocapitofemoral-dysplasia MONDO:0011908 A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001) https://github.com/monarch-initiative/mondo/issues/4521 chronic myelomonocytic leukemia JCML JMML juvenile chronic myelogenous leukemia juvenile chronic myeloid leukemia juvenile chronic myelomonocytic leukemia juvenile myelomonocytic leukemia juvenile myelomonocytic leukemia, autosomal dominant, somatic mutation leukemia, juvenile myelomonocytic, autosomal dominant, somatic mutation leukemia, juvenile myelomonocytic, somatic leukemia, chronic myelomonocytic leukemia, juvenile myelomonocytic juvenile myelomonocytic leukemia MONDO:0011909 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor. CMTDID Charcot-Marie-Tooth disease caused by mutation in MPZ Charcot-Marie-Tooth disease dominant intermediate type D Charcot-Marie-Tooth disease, dominant Intermediate type D Charcot-Marie-Tooth neuropathy dominant intermediate D DI-CMTD MPZ Charcot-Marie-Tooth disease autosomal dominant intermediate Charcot-Marie-Tooth disease type D Charcot Marie Tooth disease dominant intermediate 3 Charcot-Marie-Tooth disease, dominant intermediate D Charcot-Marie-Tooth neuropathy, dominant Intermediate D Di-Cmtd MPZ-related intermediate Charcot-Marie-Tooth neuropathy Charcot-Marie-Tooth disease dominant intermediate D MONDO:0011911 Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia. Boyadjiev-Jabs syndrome cranio-lenticulo-sutural dysplasia, CLSD craniolenticulosutural dysplasia CLSD craniolenticulosutural dysplasia MONDO:0011912 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB37 MYO6 autosomal recessive nonsyndromic deafness autosomal recessive deafness 37 autosomal recessive nonsyndromic deafness 37 autosomal recessive nonsyndromic deafness caused by mutation in MYO6 autosomal recessive nonsyndromic deafness type 37 deafness, autosomal recessive 37 deafness, autosomal recessive type 37 autosomal recessive nonsyndromic hearing loss 37 MONDO:0011913 Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene. https://github.com/monarch-initiative/mondo/issues/4521 AD3 Alzheimer disease 3 Alzheimer disease 3, early onset Alzheimer disease familial 3 Alzheimer disease type 3 Alzheimer disease, protection against, due to APOE3-Christchurch Alzheimer disease, type 3 Alzheimer disease, type 3, with spastic paraparesis and apraxia Alzheimer disease, type 3, with spastic paraparesis and unusual plaques Alzheimer's disease 3 Alzheimer's disease type 3 PSEN1 early-onset autosomal dominant Alzheimer disease early-onset autosomal dominant Alzheimer disease caused by mutation in PSEN1 familial Alzheimer disease, type 3 familial Alzheimer's disease, type 3 AD Alzheimer disease 3, early-onset Alzheimer disease early onset type 3 Alzheimer disease, familial, 3 Alzheimer disease, familial, 3, with spastic paraparesis and apraxia Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques Alzheimer disease 3 MONDO:0011914 hypotrichosis-lymphedema-telangiectasia syndrome HLTS hypotrichosis-lymphedema-telangiectasia syndrome MONDO:0011915 MMVP2 mitral valve prolapse, myxomatous 2 MVP2 mitral valve prolapse 2 myxomatous mitral valve prolapse 2 mitral valve prolapse, myxomatous 2 MONDO:0011916 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy. https://github.com/monarch-initiative/mondo/issues/4521 ARCMT2K Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K Charcot-Marie-Tooth neuropathy axonal type 2K autosomal recessive Charcot-Marie-Tooth disease with hoarseness autosomal recessive axonal CMT4C4 autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K autosomal recessive axonal Charcot-Marie-Tooth disease type 2K CMT2K Charcot-Marie-Tooth disease, autosomal dominant, type 2K Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2K Charcot-Marie-Tooth disease, axonal, type 2K Charcot-Marie-Tooth neuropathy, axonal, type 2K Charcot-Marie-Tooth disease axonal type 2K MONDO:0011917 Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CD2AP gene. https://github.com/monarch-initiative/mondo/issues/4521 CD2AP focal segmental glomerulosclerosis focal segmental glomerulosclerosis 3, susceptibility to focal segmental glomerulosclerosis caused by mutation in CD2AP glomerulosclerosis, focal segmental, 3 FSGS3 glomerulosclerosis, focal segmental, 3, susceptibility to susceptibility to focal segmental glomerulosclerosis 3 focal segmental glomerulosclerosis 3, susceptibility to MONDO:0011918 https://github.com/monarch-initiative/mondo/issues/4521 anxiety anxiety-related personality traits harm avoidance anxiety MONDO:0011919 Any autoimmune disease in which the cause of the disease is a mutation in the FOXD3 gene. FOXD3 autoimmune disease autoimmune disease caused by mutation in FOXD3 autoimmune disease, susceptibility to, 1 autoimmune disease, susceptibility to, type 1 AIS1 autoimmune disease susceptibility locus, chromosome 1P-related susceptibility to autoimmune disease 1 vitiligo-associated multiple autoimmune disease susceptibility 2 autoimmune disease, susceptibility to, 1 MONDO:0011920 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO1A gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA48 MYO1A autosomal dominant nonsyndromic deafness autosomal dominant deafness 48 autosomal dominant nonsyndromic deafness 48 autosomal dominant nonsyndromic deafness caused by mutation in MYO1A autosomal dominant nonsyndromic deafness type 48 deafness, autosomal dominant 48 deafness, autosomal dominant type 48 autosomal dominant nonsyndromic hearing loss 48 MONDO:0011921 https://github.com/monarch-initiative/mondo/issues/4069 aural atresia, congenital CAA aural atresia, congenital, with hyposmia aural atresia, congenital MONDO:0011922 NI-CINA adult idiopathic neutropenia neutropenia, nonimmune chronic idiopathic, of adults nonimmune chronic idiopathic neutropenia of adults nonimmune chronic idiopathic neutropenia of adults MONDO:0011923 Any osteoarthritis in which the cause of the disease is a mutation in the ASPN gene. ASPN osteoarthritis osteoarthritis caused by mutation in ASPN osteoarthritis susceptibility 3 osteoarthritis susceptibility type 3 OS3 osteoarthritis of knee/hip osteoarthritis susceptibility 3 MONDO:0011924 panic disorder 2 panic disorder type 2 Pand2 panic disorder susceptibility locus, chromosome 9Q-related panic disorder 2 MONDO:0011925 Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 CMD1A LAMA2 congenital muscular dystrophy MDC1A congenital merosin-deficient muscular dystrophy type 1A congenital muscular dystrophy caused by mutation in LAMA2 congenital muscular dystrophy due to laminin alpha2 deficiency merosin-deficient congenital muscular dystrophy type 1A merosin-negative congenital muscular dystrophy muscular dystrophy, congenital merosin-deficient, type 1A muscular dystrophy, congenital, merosin deficient or partially deficient LAMA2-related muscular dystrophy congenital muscular dystrophy type 1A laminin alpha-2 deficiency merosin-deficient congenital muscular dystrophy muscular dystrophy, congenital merosin-deficient muscular dystrophy, congenital merosin-deficient, 1A muscular dystrophy, congenital, due to partial LAMA2 deficiency muscular dystrophy, congenital, merosin-deficient congenital merosin-deficient muscular dystrophy 1A MONDO:0011926 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 PSORS9 psoriasis 9, susceptibility to psoriasis susceptibility 9 psoriasis 9, susceptibility to MONDO:0011927 Tufted angioma is a very rare, benign, cutaneous, slow-growing, vascular tumor mostly developing in infancy or early childhood. tufted angioma (disease) Nakagawa angioblastoma angioblastoma of Nakagawa tufted angioma tufted angioma (disease) tufted angioma of skin tufted angioma of the skin tufted hemangioma tufted hemangioma of skin tufted hemangioma of the skin tufted skin angioma angioma tufted angioma, tufted tufted angioma MONDO:0011928 Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents. dipygus split notochord syndrome caudal DUPLICATION anomaly caudal duplication https://rarediseases.info.nih.gov/diseases/1164/caudal-duplication MONDO:0011929 A chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency. https://github.com/monarch-initiative/mondo/issues/324 https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/4521 1p telomere deletion syndrome 1p36 deletion syndrome 1p36 microdeletion syndrome Del(1)(p36) chromosome 1p36 deletion syndrome chromosome 1p36 deletion syndrome, distal, isolated cases deletion 1p36 deletion 1pter monosomy 1p36 monosomy 1pter subtelomeric 1p36 deletion monosomy 1P36 syndrome chromosome 1p36 deletion syndrome https://rarediseases.info.nih.gov/diseases/6082/chromosome-1p36-deletion-syndrome MONDO:0011930 Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the ADRA2B gene. ADRA2B epilepsy, familial adult myoclonic epilepsy, familial adult myoclonic caused by mutation in ADRA2B epilepsy, familial adult myoclonic, 2 epilepsy, familial adult myoclonic, type 2 FAME2 benign adult familial myoclonic epilepsy 2 cortical myoclonic tremor with epilepsy, familial, 2 cortical myoclonus and epilepsy, autosomal dominant epilepsy, familial ADULT myoclonic, 2 epilepsy, familial adult myoclonic, 2 MONDO:0011931 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 OVCAS1 ovarian cancer, susceptibility to ovarian cancer, susceptibility to, 1 ovarian cancer, susceptibility to, 1 MONDO:0011932 Any hypotrichosis in which the cause of the disease is a mutation in the DSG4 gene. DSG4 hypotrichosis HYPT6 Lah1 autosomal recessive localized hypotrichosis hypotrichosis 6 hypotrichosis caused by mutation in DSG4 hypotrichosis type 6 hypotrichosis, localized, autosomal recessive 1 monilethrix-like hypotrichosis Htl hypotrichosis, localized, autosomal recessive hypotrichosis 6 MONDO:0011933 A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive. ALG2-CDG ALG2-congenital disorder of glycosylation CDG 1I CDG Ii CDG syndrome type Ii CDG1I carbohydrate deficient glycoprotein syndrome type Ii congenital disorder of glycosylation type 1i congenital disorder of glycosylation type Ii congenital disorder of glycosylation, type Ii mannosyltransferase 2 deficiency ALG2-CDG (CDG-II) carbohydrate-deficient glycoprotein syndrome type 1I ALG2-congenital disorder of glycosylation MONDO:0011934 Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22). DFSP dermatofibrosarcoma dermatofibrosarcoma protuberans familial dermatofibrosarcoma protuberans (subtype) giant cell fibroblastoma metastatic dermatofibrosarcoma protuberans (subtype) dermatofibrosarcoma protuberans https://rarediseases.info.nih.gov/diseases/9569/dermatofibrosarcoma-protuberans MONDO:0011935 Any retinitis pigmentosa in which the cause of the disease is a mutation in the FSCN2 gene. FSCN2 retinitis pigmentosa RP30 retinitis pigmentosa 30 retinitis pigmentosa caused by mutation in FSCN2 retinitis pigmentosa type 30 RP 30 macular Degeneration retinitis pigmentosa 30 MONDO:0011936 Microphthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development. Bakrania-Ragge syndrome MCOPS6 microphthalmia with brain and digit anomalies microphthalmia, syndromic type 6 syndromic microphthalmia type 6 anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia anophthalmia, clinical, with micrognathia, malformed ears, digital anomalies, and abnormal external genitalia microphthalmia and pituitary anomalies microphthalmia syndromic 6 microphthalmia with brain and digit developmental anomalies microphthalmia, syndromic 6 microphthalmia with brain and digit anomalies MONDO:0011937 Any peeling skin syndrome in which the cause of the disease is a mutation in the CSTA gene. CSTA peeling skin syndrome peeling skin syndrome 4 peeling skin syndrome caused by mutation in CSTA peeling skin syndrome type 4 PSS4 ichthyosis bullosa of Siemens-like ichthyosis, exfoliative, autosomal recessive peeling skin syndrome 4 MONDO:0011938 Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA4 gene. ASD2 GATA4 atrial heart septal defect atrial heart septal defect caused by mutation in GATA4 atrial heart septal defect type 2 atrial septal defect 2 atrial septal defect type 2 atrial septal defect 2 MONDO:0011939 https://github.com/monarch-initiative/mondo/issues/4948 Roifman Immunoskeletal syndrome SPENCD SPENCDI Spondyloenchondrodysplasia with immune dysregulation combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia spondyloenchondrodysplasia spondyloenchondrodysplasia with immune dysregulation spondyloenchondromatosis spondylometaphyseal dysplasia with combined immunodeficiency spondylometaphyseal dysplasia with enchondromatous changes SEM Spondyloenchondrodysplasia with immune dysregulation https://rarediseases.info.nih.gov/diseases/4978/spondyloenchondrodysplasia MONDO:0011940 https://github.com/monarch-initiative/mondo/issues/3811 https://github.com/monarch-initiative/mondo/issues/4521 2022-10-01 tuberculosis, susceptibility to mycobacterium tuberculosis, susceptibility to tuberculosis infection, protection against tuberculosis, protection against Mycobacterium tuberculosis, protection against Mycobacterium tuberculosis, susceptibility to infection by Reason: duplicate. This OMIM ID seems to represent the whole series. This will be merged with MONDO_0000070 mycobacterium tuberculosis, susceptibility' mycobacterium tuberculosis, susceptibility to MONDO:0011941 https://github.com/monarch-initiative/mondo/issues/4521 tuberculosis, susceptibility to Mycobacterium tuberculosis, susceptibility to, type 1 mycobacterium tuberculosis, susceptibility to, 1 MTBS1 mycobacterium tuberculosis, susceptibility to, 1 MONDO:0011942 SLEN1 systemic lupus erythematosus with nephritis, susceptibility to, 1 systemic lupus erythematosus with nephritis, susceptibility to, 1 MONDO:0011943 SLEN2 systemic lupus erythematosus with nephritis, susceptibility to, 2 systemic lupus erythematosus with nephritis, susceptibility to, 2 MONDO:0011944 SLEN3 systemic lupus erythematosus with nephritis, susceptibility to, 3 systemic lupus erythematosus with nephritis, susceptibility to, 3 MONDO:0011945 Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD). Gaucher disease collodion type Gaucher disease perinatal lethal Gaucher disease, collodion type Gaucher disease, perinatal lethal Gaucher disease, perinatal-lethal form Gaucher's disease perinatal lethal fetal Gaucher disease perinatal lethal Gaucher disease Gaucher disease perinatal lethal https://rarediseases.info.nih.gov/diseases/10675/gaucher-disease-perinatal-lethal MONDO:0011946 Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate. https://github.com/monarch-initiative/mondo/issues/4948 diaphanospondylodysostosis vertebral ossification, defect in, with nephrogenic rests diaphanospondylodysostosis MONDO:0011948 Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3. PCH with optic atrophy PCH without dyskinesia PCH3 PCLO non-syndromic pontocerebellar hypoplasia cerebellar atrophy with progressive microcephaly clam non-syndromic pontocerebellar hypoplasia caused by mutation in PCLO Pch with optic atrophy pontocerebellar hypoplasia, type 3 pontocerebellar hypoplasia type 3 https://rarediseases.info.nih.gov/diseases/10708/pontocerebellar-hypoplasia-type-3 MONDO:0011949 Thai symphalangism syndrome Thai symphalangism syndrome https://rarediseases.info.nih.gov/diseases/3557/thai-symphalangism-syndrome MONDO:0011950 SCAR6 autosomal recessive spinocerebellar ataxia type 6 Norwegian infantile onset ataxia cerebellar ataxia infantile nonprogressive autosomal recessive cerebellar ataxia, infantile nonprogressive, autosomal recessive spinocerebellar ataxia autosomal recessive 6 spinocerebellar ataxia, autosomal recessive 6 infantile-onset autosomal recessive nonprogressive cerebellar ataxia MONDO:0011951 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FUS gene. ALS6 FUS amyotrophic lateral sclerosis amyotrophic lateral sclerosis 6, with or without frontotemporal dementia amyotrophic lateral sclerosis caused by mutation in FUS autosomal recessive amyotrophic lateral sclerosis 6 amyotrophic lateral sclerosis 6 with or without frontotemporal dementia amyotrophic lateral sclerosis type 6 https://rarediseases.info.nih.gov/diseases/9874/amyotrophic-lateral-sclerosis-type-6 MONDO:0011952 ALS7 amyotrophic lateral sclerosis 7 amyotrophic lateral sclerosis type 7 https://rarediseases.info.nih.gov/diseases/10500/amyotrophic-lateral-sclerosis-type-7 MONDO:0011953 Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 https://github.com/monarch-initiative/mondo/issues/5671 ADANE encephalopathy, acute, infection-induced, 3, susceptibility to encephalopathy, acute, infection-induced, susceptibility to, type 3 recurrent acute necrotizing encephalopathy ANE1 IIAE3 Postinfectious acute necrotizing hemorrhagic encephalopathy acute necrotizing encephalopathy type 1 autosomal dominant acute necrotizing encephalopathy encephalopathy, acute necrotizing, susceptibility to encephalopathy, acute, infection-induced, susceptibility to, 3 infection-induced acute encephalopathy 3 susceptibility to acute infection-induced encephalopathy-3 susceptibility to acute necrotizing encephalopathy susceptibility to infection-induced acute encephalopathy 3 familial acute necrotizing encephalopathy MONDO:0011954 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 CMM4 melanoma, cutaneous malignant, 4 melanoma, cutaneous malignant, susceptibility to, 4 melanoma, cutaneous malignant, susceptibility to, 4 MONDO:0011955 diabetes mellitus, noninsulin-dependent, 4 diabetes mellitus, noninsulin-dependent, type 4 Niddm4 noninsulin-dependent diabetes mellitus 4 diabetes mellitus, noninsulin-dependent, 4 MONDO:0011956 https://github.com/monarch-initiative/mondo/issues/4521 AUTS3 autism susceptibility 3, isolated cases autism, susceptibility to, 3 autism, susceptibility to, 3 MONDO:0011957 Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages. MCDR2 macular dystrophy, retinal, type 2 macular dystrophy, retinal, 2 retinal macular dystrophy type 2 MONDO:0011958 bile and pancreatic ducts, complete absence of bile and pancreatic ducts, complete absence of MONDO:0011959 Sweet's syndrome (the eponym for acute febrile neutrophilic dermatosis) is characterized by a constellation of clinical symptoms, physical features, and pathologic findings which include fever, neutrophilia, tender erythematous skin lesions (papules, nodules, and plaques), and a diffuse infiltrate consisting predominantly of mature neutrophils that are typically located in the upper dermis. acute febrile neutrophilic dermatosis sweet syndrome Afnd Gomm button disease Gomm-button disease neutrophilic dermatosis, acute febrile sweet syndrome MONDO:0011960 A schizophrenia that has material basis in a mutation on chromosome 10q22.3. SCZD11 schizophrenia 11 schizophrenia type 11 Sczd11 schizophrenia susceptibility locus, chromosome 10Q-related schizophrenia 11 MONDO:0011961 Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR). https://github.com/monarch-initiative/mondo/issues/4521 HSAN with cough and gastroesophageal reflux HSAN1B hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux hereditary sensory and autonomic neuropathy type IB hereditary sensory neuropathy type IB neuropathy, hereditary sensory, type IB hereditary sensory neuropathy type 1B neuropathy, hereditary sensory and autonomic, type 1B neuropathy, hereditary sensory and autonomic, type I, with cough and gastroesophageal reflux neuropathy, hereditary sensory, type 1B hereditary sensory and autonomic neuropathy type 1B MONDO:0011962 Primary or metastatic malignant neoplasm involving the endometrium (mucous membrane that lines the endometrial cavity). https://github.com/monarch-initiative/mondo/issues/4521 endometrial neoplasm neoplasm of endometrium tumor of endometrium cancer of endometrium endometrial Ca endometrial cancer endometrial cancer, familial, autosomal dominant, somatic mutation endometrial cancer, susceptibility to, autosomal dominant, somatic mutation endometrial carcinoma, somatic endometrium cancer malignant endometrial neoplasm malignant endometrium neoplasm malignant neoplasm of endometrium primary malignant neoplasm of endometrium endometrial cancer MONDO:0011963 Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM216 gene. CORS2 JBTS2 Joubert syndrome 2 Joubert syndrome caused by mutation in TMEM216 Joubert syndrome type 2 TMEM216 Joubert syndrome cerebellooculorenal syndrome 2 Cerebellooculorenal syndrome 2 Joubert syndrome 2 https://rarediseases.info.nih.gov/diseases/10167/joubert-syndrome-2 MONDO:0011964 DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3). CDG syndrome type Ij CDG-Ij CDG1J CDGIj DPAGT1-CDG DPAGT1-congenital disorder of glycosylation carbohydrate deficient glycoprotein syndrome type Ij congenital disorder of glycosylation type 1j congenital disorder of glycosylation type Ij dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency CDG 1J CDG Ij DPAGT1-CDG (CDG-Ij) congenital disorder of glycosylation, type Ij DPAGT1-congenital disorder of glycosylation MONDO:0011965 A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has material basis in variation in the chromosome region 12q22-q23.3. ETL2 familial temporal lobe epilepsy type 2 Ftle epilepsy, familial temporal lobe epilepsy, familial temporal lobe, 2 familial temporal lobe epilepsy temporal epilepsy, familial familial temporal lobe epilepsy 2 MONDO:0011966 periventricular heterotopia with microcephaly, autosomal recessive ARPHM heterotopia, periventricular, autosomal recessive periventricular nodular heterotopia 2 periventricular heterotopia with microcephaly, autosomal recessive MONDO:0011967 heterotopia, periventricular, associated with chromosome 5P anomalies periventricular nodular heterotopia 3 heterotopia, periventricular, associated with chromosome 5P anomalies MONDO:0011968 Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare. https://github.com/monarch-initiative/mondo/issues/4521 Alpha-sarcoglycanopathy DMDA2 Duchenne-like autosomal recessive muscular dystrophy type 2 LGMD2D SGCA autosomal recessive limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCA limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency limb-girdle muscular dystrophy type 2D muscular dystrophy, limb-girdle, autosomal recessive 3 muscular dystrophy, limb-girdle, type 2D primary adhalinopathy Adhalinopathy, primary Duchenne-like autosomal recessive muscular dystrophy, type 2 limb-girdle muscular dystrophy, type 2D muscular dystrophy limb-girdle with alpha-sarcoglycan autosomal recessive limb-girdle muscular dystrophy type 2D MONDO:0011969 A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation. ALG8-CDG ALG8-congenital disorder of glycosylation CDG syndrome type Ih CDG-Ih CDG1H carbohydrate deficient glycoprotein syndrome type Ih congenital disorder of glycosylation type 1h congenital disorder of glycosylation type Ih glucosyltransferase 2 deficiency ALG8-CDG (CDG-Ih) CDG 1H CDG Ih congenital disorder of glycosylation, type Ih ALG8-congenital disorder of glycosylation MONDO:0011970 https://github.com/monarch-initiative/mondo/issues/4521 epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp EPRPDC Re-ped-Wc epilepsy, ROLANDIC, with paroxysmal exercise-induced dystonia and writer'S cramp rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome MONDO:0011971 Any hyper-IgM syndrome in which the cause of the disease is a mutation in the UNG gene. https://github.com/monarch-initiative/mondo/issues/4521 HIGM5 UNG hyper-IgM syndrome hyper-IgM syndrome 5 hyper-IgM syndrome caused by mutation in UNG hyper-IgM syndrome due to UNG deficiency hyper-IgM syndrome due to uracil N-glycosylase hyper-IgM syndrome type 5 immunodeficiency with hyper IgM, type 5 hyper IgM syndrome 5 immunodeficiency with hyper IgM type 5 immunodeficiency with hyper-IgM, type 5 hyper-IgM syndrome type 5 https://rarediseases.info.nih.gov/diseases/10581/immunodeficiency-with-hyper-igm-type-5 MONDO:0011972 A complication of ovulation induction in infertility treatment. It is graded by the severity of symptoms which include ovary enlargement, multiple ovarian follicles; ovarian cysts; ascites; and generalized edema. The full-blown syndrome may lead to renal failure, respiratory distress, and even death. Increased capillary permeability is caused by the vasoactive substances, such as vascular endothelial growth factors, secreted by the overly-stimulated ovaries. OHSS ovarian hyperstimulation syndrome secondary Meig's syndrome ovarian hyperstimulation syndrome, familial gestational spontaneous ovarian hyperstimulation syndrome MONDO:0011973 zinc deficiency, transient neonatal TNZD zinc deficiency, neonatal, due to Low breast milk zinc zinc in breast milk, reduced zinc deficiency, transient neonatal MONDO:0011974 A retinitis pigmentosa that has material basis in mutation in the PRPH2 gene on chromosome 6p21. https://github.com/monarch-initiative/mondo/issues/4521 RP7 leber congenital amaurosis 18, autosomal recessive, autosomal dominant, digenic dominant retinitis pigmentosa 7 retinitis pigmentosa 7 and digenic form, autosomal recessive, autosomal dominant, digenic dominant retinitis pigmentosa 7, digenic form, autosomal recessive, autosomal dominant, digenic dominant retinitis pigmentosa type 7 Leber congenital amaurosis 18 RP 7 retinitis pigmentosa 7, digenic retinitis pigmentosa 7 https://rarediseases.info.nih.gov/diseases/10386/retinitis-pigmentosa-7 MONDO:0011975 UPD(14)pat paternal uniparental disomy of chromosome 14 paternal uniparental disomy of chromosome type 14 KAGAMI-Ogata syndrome paternal uniparental disomy 14 uniparental disomy, paternal, chromosome 14 paternal uniparental disomy of chromosome 14 https://rarediseases.info.nih.gov/diseases/5409/uniparental-disomy-paternal-chromosome-14 MONDO:0011976 Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested. Rajab-Spranger syndrome lipodystrophy, generalized, with intellectual disability, deafness, short stature, and slender bones lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones lipodystrophy-intellectual disability-deafness syndrome MONDO:0011977 The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance. https://github.com/monarch-initiative/mondo/issues/3664 Nablus mask-like facial syndrome monosomy 8q22.1 NABLUS mask-like facial syndrome NMLFS chromosome 8Q22.1 deletion syndrome 8q22.1 microdeletion syndrome MONDO:0011978 CoQ-responsive OXPHOS deficiency CoQ-responsive oxidative phosphorylation disorder CoQ-responsive OXPHOS deficiency MONDO:0011979 Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region. AOFMD AVMD Gass disease adult-onset foveomacular dystrophy adult-onset foveomacular dystrophy with choroidal neovascularization adult-onset vitelliform macular dystrophy macular dystrophy, vitelliform, type 3 pseudo-Best disease pseudo-vitelliform macular dystrophy VMD3 foveomacular dystrophy, adult-onset, with choroidal neovascularization foveomacular dystrophy, adult-onset; AOFMD macular dystrophy, vitelliform, 3 macular dystrophy, vitelliform, adult-onset adult-onset foveomacular vitelliform dystrophy MONDO:0011980 autoimmune thyroid disease, susceptibility to, 1 autoimmune thyroid disease, susceptibility to, type 1 AITD1 autoimmune thyroid disease, susceptibility to, 1 MONDO:0011981 autoimmune thyroid disease, susceptibility to, 2 autoimmune thyroid disease, susceptibility to, type 2 AITD2 autoimmune thyroid disease, susceptibility to, 2 MONDO:0011982 autoimmune thyroid disease, susceptibility to, 3 autoimmune thyroid disease, susceptibility to, type 3 AITD3 Editor note: TODO check causative gene; check ORDO synonyms autoimmune thyroid disease, susceptibility to, 3 MONDO:0011983 autoimmune thyroid disease, susceptibility to, 4 autoimmune thyroid disease, susceptibility to, type 4 AITD4 autoimmune thyroid disease, susceptibility to, 4 MONDO:0011984 Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the FBLN1 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 FBLN1 non-syndromic synpolydactyly SD2, Debeer type SD2b SPD, Debeer type SPD2 non-syndromic synpolydactyly caused by mutation in FBLN1 synpolydactyly type 2 synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses synpolydactyly, Debeer type synpolydactyly 2 synpolydactyly, 3/3-prime/4, associated with metacarpal and metatarsal synostoses synpolydactyly type 2 MONDO:0011985 A form of Hyper IgM syndrome which is a defect in class switch recombination downstream of the AICDA gene that does not impair somatic hypermutation. HIGM4 hyper-IgM syndrome type 4 hyper IgM syndrome 4 hyper-IgM syndrome 4 immunodeficiency with hyper IgM type 4 immunodeficiency with hyper-IgM type 4 immunodeficiency with hyper-IgM, type 4 hyper-IgM syndrome type 4 https://rarediseases.info.nih.gov/diseases/10580/immunodeficiency-with-hyper-igm-type-4 MONDO:0011986 Tropical pancreatitis is a rare pancreatic disease of juvenile onset occurring mainly in tropical developing countries and characterized by chronic non-alcoholic pancreatitis manifesting with abdominal pain, steatorrhea and fibrocalculous pancreatopathy. It is also commonly associated with the development of pancreatic calculi and pancreatic cancer at a much higher frequency than seen in ordinary chronic pancreatitis. https://github.com/monarch-initiative/mondo/issues/4521 TCP tropical calcific chronic pancreatitis fibrocalculous pancreatic diabetes, susceptibility to tropical calcific pancreatitis tropical pancreatitis MONDO:0011987 Any cone-rod dystrophy in which the cause of the disease is a mutation in the RPGRIP1 gene. CORD13 RPGRIP1 cone-rod dystrophy cone-rod dystrophy 13 cone-rod dystrophy caused by mutation in RPGRIP1 cone-rod dystrophy type 13 cone-rod dystrophy 13 MONDO:0011988 A primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas. https://github.com/monarch-initiative/mondo/issues/4521 immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis neutrophil immunodeficiency syndrome neutrophil immunodeficiency syndrome MONDO:0011989 Infectious disease that is transmitted through the bite of hematophagous female phlebotomine sand flies. The clinical spectrum ranges from asymptomatic to clinically overt disease which can remain localized to the skin or disseminate to the upper oral and respiratory mucous membranes or throughout the reticulo-endothelial system. Three main clinical syndromes have been described: visceral (or Kala-Azar; with fever, weight loss, hepatosplenomegaly), cutaneous, and mucocutaneous leishmaniasis (cutaneous or mucocutaneous ulceration). cutaneous leishmaniasis (subtype) post kala-Azar dermal leishmaniasis post-kala-azar dermal infectious disease by leishmaniasis post-kala-azar dermal leishmaniasis visceral leishmaniasis (subtype) leishmaniasis MONDO:0011990 BFNS3 seizures, benign familial neonatal, 3 convulsions, benign familial neonatal, 3 seizures, benign familial neonatal, 3 MONDO:0011991 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 6q26-q27. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB38 autosomal recessive deafness 38 autosomal recessive nonsyndromic deafness 38 autosomal recessive nonsyndromic deafness type 38 deafness, autosomal recessive 38 autosomal recessive nonsyndromic hearing loss 38 MONDO:0011992 Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1. SPG25 autosomal recessive spastic paraplegia 25 autosomal recessive spastic paraplegia type 25 autosomal recessive spastic paraplegia-disc herniation syndrome hereditary spastic paraplegia type 25 Disc herniation with spastic paraplegia, autosomal recessive spastic paraplegia 25 spastic paraplegia 25, autosomal recessive spinal disc herniation with autosomal recessive spastic paraplegia hereditary spastic paraplegia 25 MONDO:0011993 aspirin resistance aspirin, resistance to Antithrombotic Effect of aspirin, resistance to Cardioprotective Effect of aspirin resistance MONDO:0011994 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the P2RX2 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA41 P2RX2 autosomal dominant nonsyndromic deafness autosomal dominant deafness 41 autosomal dominant nonsyndromic deafness 41 autosomal dominant nonsyndromic deafness caused by mutation in P2RX2 autosomal dominant nonsyndromic deafness type 41 deafness, autosomal dominant 41 deafness, autosomal dominant type 41 autosomal dominant nonsyndromic hearing loss 41 MONDO:0011995 Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). hypotonia, growth and developmental delay, seizures, and joint limitation are also reported. https://github.com/monarch-initiative/mondo/issues/4069 craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developintellectual disability craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation cataract - congenital heart disease - neural tube defect syndrome MONDO:0011996 A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age, but it mostly affects middle aged and older individuals. Patients usually present with fatigue, weight loss, anemia, night sweats, and splenomegaly. If untreated, it follows a biphasic or triphasic natural course; an initial indolent chronic phase which is followed by an accelerated phase, a blast phase, or both. Allogeneic stem cell transplantation and tyrosine kinase inhibitors delay disease progression and prolong overall survival. https://github.com/monarch-initiative/mondo/issues/4521 BCR-ABL Positive chronic myelogenous leukemia CML CML - chronic myelogenous leukemia chronic granulocytic leukemia chronic myelocytic leukemia chronic myelogenous leukemia chronic myelogenous leukemia (CML) chronic myelogenous leukemia, BCR-ABL1 Positive chronic myelogenous leukemias chronic myeloid leukemia hematopoeitic - chronic myelocytic leukemia (CML) leukemia, Philadelphia chromosome-positive, resistant to imatinib, Somatic mutation leukemia, chronic myeloid, Philadelphia chromosome positive, somatic myeloid leukemia, chronic leukemia, chronic myelogenous leukemia, chronic myeloid leukemia, chronic myeloid, atypical chronic myelogenous leukemia, BCR-ABL1 positive MONDO:0011997 A type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia. AP3B1 Hermansky-Pudlak syndrome HPS-2 HPS2 Hermansky-Pudlak syndrome 2 Hermansky-Pudlak syndrome caused by mutation in AP3B1 Hermansky-Pudlak syndrome type 2 Hermansky Pudlak syndrome 2 Hermansky-Pudlak syndrome with neutropenia Platelet defects and oculocutaneous albinism Hermansky-Pudlak syndrome 2 https://rarediseases.info.nih.gov/diseases/9435/hermansky-pudlak-syndrome-2 MONDO:0011998 Autosomal dominant slowed nerve conduction velocity is a hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene. https://github.com/monarch-initiative/mondo/issues/4521 autosomal dominant slowed nerve conduction velocity slowed nerve conduction velocity, AD SNCV slowed nerve conduction velocity, autosomal dominant autosomal dominant slowed nerve conduction velocity MONDO:0011999 OTSC3 otosclerosis 3 otosclerosis 3 MONDO:0012000 An anxiety disorder characterized by an intense, irrational fear cued by the presence or anticipation of a specific object or situation. Exposure to the phobic stimulus immediately provokes an anxiety response. In adults, the specific phobia is recognized as excessive or unreasonable. simple phobia phobia, simple phobia, specific specific phobia MONDO:0012001 mandibulofacial dysostosis with ptosis, autosomal dominant mandibulofacial dysostosis with ptosis, autosomal dominant MONDO:0012002 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 22q11.21-q12.1. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB40 autosomal recessive deafness 40 autosomal recessive nonsyndromic deafness 40 autosomal recessive nonsyndromic deafness type 40 deafness, autosomal recessive 40 autosomal recessive nonsyndromic hearing loss 40 MONDO:0012003 An autosomal recessive disorder caused by mutations in the HGF gene, encoding hepatocyte growth factor receptor. It is characterized by profound deafness. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB39 HGF autosomal recessive nonsyndromic deafness autosomal recessive deafness 39 autosomal recessive nonsyndromic deafness 39 autosomal recessive nonsyndromic deafness caused by mutation in HGF autosomal recessive nonsyndromic deafness type 39 deafness, autosomal recessive 39 deafness, autosomal recessive type 39 autosomal recessive nonsyndromic hearing loss 39 MONDO:0012004 A very rare, slow-growing, clinically serious endocrine tumor that generally develops in mid-adulthood. PRTC presents as a palpable painless mass in the neck and causes severe hypercalcemia and related symptoms, non-specific gastrointestinal manifestations, as well as renal and bone complications related to primary hyperparathyroidism (nephrolithiasis, impaired renal function, osteoporosis, bone pain, and pathologic fractures, etc.). Some PRTCs are however non-functioning tumors. cancer of parathyroid gland cancer of the parathyroid gland malignant neoplasm of parathyroid gland malignant neoplasm of the parathyroid parathyroid cancer parathyroid gland cancer parathyroid gland neoplasm parathyroid neoplasm adenocarcinoma of parathyroid adenocarcinoma of parathyroid gland adenocarcinoma of the parathyroid adenocarcinoma of the parathyroid gland carcinoma of parathyroid carcinoma of parathyroid gland carcinoma of the parathyroid carcinoma of the parathyroid gland parathyroid adenocarcinoma parathyroid carcinoma parathyroid gland adenocarcinoma parathyroid gland carcinoma PRTC parathyroid gland carcinoma MONDO:0012005 growth failure, microcephaly, intellectual disability, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy growth failure, microcephaly, intellectual disability, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy MONDO:0012006 craniosynostosis with ocular abnormalities and hallucal defects craniosynostosis with ocular abnormalities and hallucal defects MONDO:0012007 scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities anomalous pulmonary Venous return, multiple Cardiac malformations, and craniofacial and central nervous system abnormalities scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities MONDO:0012008 Lelis syndrome is characterised by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans. Lelis syndrome ectodermal dysplasia-acanthosis nigricans syndrome ectodermal dysplasia, hypohidrotic, with acanthosis nigricans Lelis syndrome https://rarediseases.info.nih.gov/diseases/10367/lelis-syndrome MONDO:0012009 https://github.com/monarch-initiative/mondo/issues/4882 coronary heart disease, susceptibility to, 2 coronary heart disease, susceptibility to, type 2 Chds2 coronary heart disease, susceptibility to, 2 MONDO:0012010 https://github.com/monarch-initiative/mondo/issues/4882 coronary heart disease, susceptibility to, 4 coronary heart disease, susceptibility to, type 4 Chds4 coronary heart disease, susceptibility to, 4 MONDO:0012011 Any coronary artery disease in which the cause of the disease is a mutation in the MEF2A gene. MEF2A coronary artery disease coronary artery disease caused by mutation in MEF2A coronary artery disease, autosomal dominant, 1 coronary artery disease, autosomal dominant, type 1 ADCAD1 coronary artery disease with myocardial infarction coronary artery disease, autosomal dominant, 1 MONDO:0012012 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs. CMTDIC Charcot-Marie-Tooth disease caused by mutation in YARS Charcot-Marie-Tooth disease dominant intermediate type C Charcot-Marie-Tooth disease, dominant Intermediate type C Charcot-Marie-Tooth neuropathy dominant intermediate C DI-CMTC YARS Charcot-Marie-Tooth disease autosomal dominant intermediate Charcot-Marie-Tooth disease type C Charcot-Marie-Tooth disease, dominant intermediate C Charcot-Marie-Tooth neuropathy, dominant Intermediate C Di-Cmtc YARS-related intermediate Charcot-Marie-Tooth neuropathy Charcot-Marie-Tooth disease dominant intermediate C MONDO:0012013 A Weill-Marchesani syndrome characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome. https://github.com/monarch-initiative/mondo/issues/4948 mesodermal Dysmorphodystrophy, congenital spherophakia-brachymorphia syndrome GEMSS GEMSS syndrome WMS2 Weill-Marchesani syndrome 2 Weill-Marchesani syndrome type 2 Weill-Marchesani syndrome, autosomal dominant glaucoma, ectopia, microspherophakia, Stiff joints and short stature syndrome glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome Weill-Marchesani syndrome 2, dominant MONDO:0012014 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is a subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology. CMTRIA Charcot-Marie-Tooth disease caused by mutation in GDAP1 Charcot-Marie-Tooth disease recessive intermediate type A Charcot-Marie-Tooth disease, recessive Intermediate type a Charcot-Marie-Tooth neuropathy recessive intermediate A GDAP1 Charcot-Marie-Tooth disease RI-CMT type A RI-CMTA autosomal recessive intermediate Charcot-Marie-Tooth disease type A Charcot-Marie-Tooth disease, recessive intermediate A Charcot-Marie-Tooth disease, recessive intermediate, A Charcot-Marie-Tooth neuropathy, recessive Intermediate a Ri-Cmta Charcot-Marie-Tooth disease recessive intermediate A MONDO:0012015 NYS3 NYSTAGMUS 3, congenital, autosomal dominant nystagmus 3, congenital, autosomal dominant MONDO:0012016 This syndrome is characterised by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas. CM-AVM CM-AVM syndrome CMAVM capillary malformation without arteriovenous malformation capillary malformation-arteriovenous malformation capillary malformation-arteriovenous malformation syndrome https://rarediseases.info.nih.gov/diseases/11904/capillary-malformation-arteriovenous-malformation-syndrome MONDO:0012018 myopathy, myosin storage, autosomal dominant MSMA myopathy with lysis of type 1 myofibrils myopathy, hyaline body, autosomal dominant myopathy, myosin storage, autosomal dominant MONDO:0012019 Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy. https://github.com/monarch-initiative/mondo/issues/4948 spondyloepiphyseal dysplasia, Kimberley type SEDK Sedk spondyloepiphyseal dysplasia, Kimberley type MONDO:0012020 The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS), establishing a complementary duplication syndrome. https://github.com/monarch-initiative/mondo/issues/3492 https://github.com/monarch-initiative/mondo/issues/4521 22q11 duplication syndrome 22q11.2 microduplication syndrome Duplication 22q11.2 chromosome 22q11.2 microduplication syndrome chromosome 22q11.2 microduplication syndrome, isolated cases dup(22)(q11) duplication 22q11.2 trisomy 22q11.2 22q11.2 duplication 22q11.2 duplication syndrome chromosome 22q11.2 DUPLICATION syndrome chromosome 22q11.2 duplication syndrome chromosome 22q11.2 microduplication syndrome https://rarediseases.info.nih.gov/diseases/10557/22q112-duplication-syndrome MONDO:0012021 MYP17 myopia 17, autosomal dominant myopia 4 myopia 4, formerly myopia 17, autosomal dominant MONDO:0012022 OFC4 orofacial cleft 4 cleft lip with or without cleft palate, nonsyndromic, 4 orofacial cleft 4 MONDO:0012023 An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has material basis in variation in the chromosome region 1q21-q23. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA49 autosomal dominant deafness 49 autosomal dominant nonsyndromic deafness 49 autosomal dominant nonsyndromic deafness type 49 deafness, autosomal dominant 49 autosomal dominant nonsyndromic hearing loss 49 MONDO:0012024 Any retinitis pigmentosa in which the cause of the disease is a mutation in the CERKL gene. https://github.com/monarch-initiative/mondo/issues/5693 CERKL retinitis pigmentosa RP26 retinitis pigmentosa 26 retinitis pigmentosa caused by mutation in CERKL retinitis pigmentosa type 26 RP 26 retinitis pigmentosa 26 https://rarediseases.info.nih.gov/diseases/10397/retinitis-pigmentosa-26 MONDO:0012025 Any branchiootic syndrome in which the cause of the disease is a mutation in the SIX1 gene. SIX1 branchiootic syndrome branchiootic syndrome 3 branchiootic syndrome caused by mutation in SIX1 branchiootic syndrome type 3 BOS3 bo syndrome 3 branchiootic syndrome 3 MONDO:0012027 https://github.com/monarch-initiative/mondo/issues/4882 AIS2 autoimmune disease, susceptibility to, 2 autoimmune disease susceptibility locus, chromosome 7-related vitiligo-associated multiple autoimmune disease susceptibility 3 autoimmune disease, susceptibility to, 2 MONDO:0012028 AIS3 autoimmune disease, susceptibility to, 3 autoimmune disease susceptibility locus, chromosome 8-related vitiligo-associated multiple autoimmune disease susceptibility 4 autoimmune disease, susceptibility to, 3 MONDO:0012029 Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPJ gene. CENPJ autosomal recessive primary microcephaly autosomal recessive primary microcephaly caused by mutation in CENPJ microcephaly 6, primary, autosomal recessive MCPH6 microcephaly 6, primary, autosomal recessive MONDO:0012030 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p12. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA43 autosomal dominant deafness 43 autosomal dominant nonsyndromic deafness 43 autosomal dominant nonsyndromic deafness type 43 deafness, autosomal dominant 43 autosomal dominant nonsyndromic hearing loss 43 MONDO:0012031 Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the CD36 gene. BDPLT10 CD36 deficiency CD36 inherited bleeding disorder, platelet-type inherited bleeding disorder, platelet-type caused by mutation in CD36 platelet glycoprotein IV deficiency platelet-type bleeding disorder 10 bleeding disorder, Platelet-type, 10 platelet glycoprotein 4 deficiency platelet-type bleeding disorder 10 MONDO:0012032 Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect. Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency VATER-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency Braddock syndrome MONDO:0012033 Bradyopsia is characterised by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia. PERRS bradyopsia prolonged electroretinal response suppression bradyopsia https://rarediseases.info.nih.gov/diseases/12299/bradyopsia MONDO:0012034 Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a subtype of autosomal dominant limb-girdle muscular dystrophy,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed. https://github.com/monarch-initiative/mondo/issues/4521 LGMD1F muscular dystrophy limb-girdle type 1F muscular dystrophy, limb-girdle, autosomal dominant 2 limb-girdle muscular dystrophy type 1F muscular dystrophy, limb-girdle, type 1F autosomal dominant limb-girdle muscular dystrophy type 1F MONDO:0012035 Craniosynostosis-intracranial calcification is a form of syndromic craniosynostosis, characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner. Longman-Tolmie syndrome craniosynostosis, calcification of basal ganglia, and facial dysmorphism craniosynostosis-intracranial calcifications syndrome MONDO:0012036 SLEB4 systemic lupus erythematosus, susceptibility to, 4 systemic lupus erythematosus, susceptibility to, 4 MONDO:0012037 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CC2D1A gene. CC2D1A autosomal recessive non-syndromic intellectual disability MRT3 autosomal recessive non-syndromic intellectual disability caused by mutation in CC2D1A intellectual disability, autosomal recessive 3 intellectual disability, autosomal recessive type 3 mental retardation, autosomal recessive 3 mental retardation, autosomal recessive type 3 intellectual disability, autosomal recessive 3 MONDO:0012038 speech-sound disorder SSD speech-sound disorder MONDO:0012039 https://github.com/monarch-initiative/mondo/issues/4521 myocardial infarction, decreased susceptibility to myocardial infarction, susceptibility to myocardial infarction, protection against myocardial infarction, susceptibility to, 1 susceptibility to myocardial infarction myocardial infarction, susceptibility to MONDO:0012040 An inflammatory bowel disease that has material basis in variation in the chromosome region 3p26. IBD9 inflammatory bowel disease 9 inflammatory bowel disease type 9 inflammatory bowel disease 9 MONDO:0012041 An autosomal recessive hereditary neoplastic syndrome caused by mutations in the MUTYH gene on chromosome 1p34.1. It is characterized by the presence of multiple colorectal polyps that may progress to carcinoma. Development of gastric and small intestinal polyps may also occur. https://github.com/monarch-initiative/mondo/issues/5374 FAP2 MAP MUTYH-associated polyposis MUTYH-related AFAP MUTYH-related attenuated FAP MUTYH-related attenuated familial adenomatous polyposis MUTYH-related attenuated familial polyposis coli adenomas, multiple colorectal, autosomal recessive colorectal adenomatous polyposis, autosomal recessive familial adenomatous polyposis 2 familial adenomatous polyposis, 2 familial adenomatous polyposis, type 2 MAP syndrome MYH-associated polyposis autosomal recessive familial adenomatous polyposis autosomal recessive multiple colorectal adenomas familial adenomatous polyposis 2 https://rarediseases.info.nih.gov/diseases/10805/myh-associated-polyposis MONDO:0012042 https://github.com/monarch-initiative/mondo/issues/4882 HSCR8 Hirschsprung disease, susceptibility to, 8 Hirschsprung disease, susceptibility to, 8 MONDO:0012043 Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment. RBCD Reis-Bucklers corneal dystrophy anterior limiting membrane dystrophy type 1 anterior limiting membrane dystrophy type I atypical granular corneal dystrophy corneal dystrophy of Bowman layer type 1 corneal dystrophy of Bowman layer type I geographic corneal dystrophy granular corneal dystrophy type 3 granular corneal dystrophy type III superficial granular corneal dystrophy CDB1 CDRB Reis Bucklers corneal dystrophy Reis Bucklers dystrophy Reis-Bücklers corneal dystrophy corneal dystrophy Reis Bucklers type corneal dystrophy geographic corneal dystrophy of Bowman Layer, type 1 corneal dystrophy, REIS-Bucklers type corneal dystrophy, geographic granular corneal dystrophy, type 3 Reis-Bucklers corneal dystrophy MONDO:0012044 Lattice corneal dystrophy type 3A is rare condition that affects the cornea. It is characterized primarily by protein clumps in the clear, outer covering of the eye which cloud the cornea and impair vision. Affected people also experience recurrent corneal erosion (separation of certain layers of the cornea), which is associated with severe pain and sensitivity to bright light. Lattice corneal dystrophy type 3A is caused by changes (mutations) in the TGFBI gene and is inherited in an autosomal dominant manner. The condition is usually treated surgically. CDL3A corneal dystrophy, lattice type IIIA lattice corneal dystrophy type 3A lattice corneal dystrophy type III A lattice corneal dystrophy, type 3A corneal dystrophy, lattice type 3A https://rarediseases.info.nih.gov/diseases/10320/lattice-corneal-dystrophy-type-3a MONDO:0012045 MYP5 myopia 5, autosomal dominant myopia 5, autosomal dominant MONDO:0012046 https://github.com/monarch-initiative/mondo/issues/4069 congenital corneal opacities, cornea guttata, and corectopia corneal opacities, congenital, with cornea guttata and corectopia congenital corneal opacities, cornea guttata, and corectopia MONDO:0012047 alopecia universalis congenita, XY gonadal dysgenesis, and laryngomalacia alopecia universalis congenita, 10Y gonadal dysgenesis, and laryngomalacia MONDO:0012048 Depression which is considered strictly biological. MDD clinical depression major depressive disorder unipolar depression endogenous depression MONDO:0012049 OFD7 Whelan syndrome orofaciodigital syndrome VII orofaciodigital syndrome type 7 orofaciodigital syndrome type VII Ofds 7 oral-Facial-digital syndrome, type 7 orofaciodigital syndrome 7 orofaciodigital syndrome VII MONDO:0012050 https://github.com/monarch-initiative/mondo/issues/5509 MDD1 major depressive disorder 1 major depressive disorder type 1 unipolar depression 1 OMIM reports one susceptibility locus for major depressive disorder (MDD1) has been mapped to chromosome 12q22-q23.2. major depressive disorder 1 MONDO:0012051 periodontitis, aggressive, 2 periodontitis, aggressive, type 2 periodontitis, aggressive, 2 MONDO:0012052 A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3). ALG1-CDG ALG1-congenital disorder of glycosylation CDG syndrome type Ik CDG-Ik CDG1K carbohydrate deficient glycoprotein syndrome type Ik congenital disorder of glycosylation type 1k congenital disorder of glycosylation type Ik mannosyltransferase 1 deficiency ALG1-CDG (CDG-Ik) CDG 1K CDG Ik congenital disorder of glycosylation, type Ik ALG1-congenital disorder of glycosylation MONDO:0012053 ANIB2 aneurysm, intracranial BERRY, 2 aneurysm, intracranial berry, 2 MONDO:0012054 A schizophrenia that has material basis in a mutation on chromosome 1p36.2. SCZD12 schizophrenia 12 schizophrenia type 12 Sczd12 schizophrenia susceptibility locus, chromosome 1P-related schizophrenia 12 MONDO:0012055 Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia. https://github.com/monarch-initiative/mondo/issues/4521 Larsen-like syndrome, isolated cases Larsen-like syndrome Lrsl Larsen-like osseous dysplasia-short stature syndrome MONDO:0012056 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the NMNAT1 gene. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4937 LCA9 Leber congenital amaurosis 9 Leber congenital amaurosis caused by mutation in NMNAT1 Leber congenital amaurosis type 9 NMNAT1 Leber congenital amaurosis amaurosis congenita of Leber, type 9 Leber congenital amaurosis 9 https://rarediseases.info.nih.gov/diseases/9491/leber-congenital-amaurosis-9 MONDO:0012057 legionnaire disease, susceptibility to Legionella infection legionnaire's disease susceptibility to legionnaire disease legionnaire disease, susceptibility to MONDO:0012058 https://github.com/monarch-initiative/mondo/issues/4882 myocardial infarction, susceptibility to, 2 myocardial infarction, susceptibility to, type 2 Mci2 myocardial infarction, susceptibility to, 2 MONDO:0012059 polydactyly, postaxial, type A4 Papa4 postaxial polydactyly, type A4 polydactyly, postaxial, type A4 MONDO:0012060 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESRRB gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB35 ESRRB autosomal recessive nonsyndromic deafness autosomal recessive deafness 35 autosomal recessive nonsyndromic deafness 35 autosomal recessive nonsyndromic deafness caused by mutation in ESRRB autosomal recessive nonsyndromic deafness type 35 deafness, autosomal recessive 35 deafness, autosomal recessive type 35 autosomal recessive nonsyndromic hearing loss 35 MONDO:0012061 Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients. familial sinus node dysfunction hereditary sick sinus syndrome SSS1 sick sinus syndrome 1, autosomal recessive familial sick sinus syndrome MONDO:0012062 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ABCC9 gene. ABCC9 familial isolated dilated cardiomyopathy CMD1O cardiomyopathy, dilated, type 1O dilated cardiomyopathy type 1O dilated cardiomyopathy with ventricular tachycardia familial isolated dilated cardiomyopathy caused by mutation in ABCC9 cardiomyopathy, dilated, 1O cardiomyopathy, dilated, with ventricular tachycardia dilated cardiomyopathy 1O MONDO:0012063 Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism. Morava-Mehes syndrome ulnar/fibular RAY defect and brachydactyly ulnar/fibula ray defect-brachydactyly syndrome MONDO:0012064 Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome. Burn-McKeown syndrome oculootofacial dysplasia BMKS bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance choanal atresia deafness cardiac defects dysmorphism choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome https://rarediseases.info.nih.gov/diseases/10041/choanal-atresia-hearing-loss-cardiac-defects-craniofacial-dysmorphism-syndrome MONDO:0012066 atrial fibrillation, autosomal dominant ATFB1 atrial fibrillation, familial, 1 atrial fibrillation, familial, 1 MONDO:0012067 Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the NPSR1 gene. https://github.com/monarch-initiative/mondo/issues/4521 NPSR1 inherited susceptibility to asthma asthma, susceptibility to, 2 asthma-related traits, susceptibility to, 2 asthma-related traits, susceptibility to, type 2 inherited susceptibility to asthma caused by mutation in NPSR1 ASRT2 asthma-related traits, susceptibility to, 2 MONDO:0012068 https://github.com/monarch-initiative/mondo/issues/4069 brachial palsy, familial congenital brachial palsy, familial congenital MONDO:0012069 KTCN3 keratoconus 3 keratoconus 3 MONDO:0012071 Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the AGPAT2 gene. AGPAT2 congenital generalized lipodystrophy (disease) BSCL1 Berardinelli-Seip congenital lipodystrophy, type 1 Brunzell syndrome AGPAT2-related CGL1 congenital generalized lipodystrophy (disease) caused by mutation in AGPAT2 congenital generalized lipodystrophy type 1 AGPAT2-related Brunzell syndrome Berardinelli-Seip congenital lipodystrophy type 1 Brunzell syndrome, AGPAT2-related lipodystrophy, Berardinelli-Seip congenital, type 1 lipodystrophy, congenital generalized, type 1 congenital generalized lipodystrophy type 1 MONDO:0012072 Familial partial lipodystrophy, Kobberling type, is a very rare form of familial partial lipodystrophy (FPLD) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant. FPLD1 familial partial lipodystrophy type 1 familial partial lipodystrophy type Köbberling familial partial lipodystrophy, Köbberling type lipodystrophy, familial partial, Kobberling type lipodystrophy, familial partial, type 1 familial partial lipodystrophy, Kobberling type MONDO:0012073 Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy. https://github.com/monarch-initiative/mondo/issues/4985 ribose 5-phosphate isomerase deficiency ribose-5-P isomerase deficiency MONDO:0012074 https://github.com/monarch-initiative/mondo/issues/4948 mandibuloacral dysplasia with type B lipodystrophy MADB MANDIBULOACRAL dysplasia with type B lipodystrophy lipodystrophy, type B, associated with Mandibuloacral dysplasia mandibuloacral dysplasia with type B lipodystrophy https://rarediseases.info.nih.gov/diseases/9989/mandibuloacral-dysplasia-with-type-b-lipodystrophy MONDO:0012075 ODCRCS autosomal dominant ectodermal dysplasia-cancer predisposition syndrome oligodontia-cancer predisposition syndrome oligodontia-colorectal cancer syndrome tooth agenesis-colorectal cancer syndrome oligodontia-cancer predisposition syndrome MONDO:0012076 midface hypoplasia, obesity, developmental delay, and neonatal hypotonia midface hypoplasia, obesity, developmental delay, and neonatal hypotonia MONDO:0012077 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VAPB gene. ALS8 VAPB amyotrophic lateral sclerosis amyotrophic lateral sclerosis 8 amyotrophic lateral sclerosis caused by mutation in VAPB amyotrophic lateral sclerosis type 8 amyotrophic lateral sclerosis type 8 https://rarediseases.info.nih.gov/diseases/10499/amyotrophic-lateral-sclerosis-type-8 MONDO:0012078 Any Joubert syndrome in which the cause of the disease is a mutation in the AHI1 gene. AHI1 Joubert syndrome JBTS3 Joubert syndrome 3 Joubert syndrome caused by mutation in AHI1 Joubert syndrome type 3 Joubert syndrome 3 MONDO:0012079 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 ASPG2 Asperger syndrome susceptibility 2, Isolated cases ASPERGER syndrome, susceptibility to, 2 asperger syndrome, susceptibility to, 2 MONDO:0012080 Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB1 gene. HSPB1 neuronopathy, distal hereditary motor neuronopathy, distal hereditary motor caused by mutation in HSPB1 HMN 2B HMN2B neuronopathy, distal hereditary motor, type IIB neuropathy, distal hereditary motor, type 2B neuronopathy, distal hereditary motor, type 2B MONDO:0012081 The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown. https://github.com/monarch-initiative/mondo/issues/3492 https://github.com/monarch-initiative/mondo/issues/4521 15q11-q13 duplication syndrome 15q11-q13 microduplication syndrome 15q11q13 duplication syndrome autism susceptibility 4 dup(15)(q11q13) trisomy 15q11-q13 trisomy 15q11q13 Duplication 15Q11-q13 syndrome autism, susceptibility to, 4 chromosome 15Q11.2 Duplication syndrome chromosome 15q11-q13 DUPLICATION syndrome 15q11q13 microduplication syndrome MONDO:0012082 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 ASPG1 Asperger syndrome susceptibility 1, Isolated cases ASPERGER syndrome, susceptibility to, 1 asperger syndrome, susceptibility to, 1 MONDO:0012083 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GRHL2 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA28 GRHL2 autosomal dominant nonsyndromic deafness autosomal dominant deafness 28 autosomal dominant nonsyndromic deafness 28 autosomal dominant nonsyndromic deafness caused by mutation in GRHL2 autosomal dominant nonsyndromic deafness type 28 deafness, autosomal dominant 28 deafness, autosomal dominant type 28 autosomal dominant nonsyndromic hearing loss 28 MONDO:0012084 Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction. AADC deficiency aromatic L-amino acid decarboxylase deficiency aromatic L-amino-acid decarboxylase deficiency Aadc deficiency DDC deficiency Dopa decarboxylase deficiency aromatic amino acid decarboxylase deficiency aromatic L-amino acid decarboxylase deficiency https://rarediseases.info.nih.gov/diseases/770/aromatic-l-amino-acid-decarboxylase-deficiency MONDO:0012085 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH5 gene. CILD3 DNAH5 primary ciliary dyskinesia ciliary dyskinesia, primary, type 3 primary ciliary dyskinesia 3 primary ciliary dyskinesia 3 with or without situs inversus primary ciliary dyskinesia caused by mutation in DNAH5 primary ciliary dyskinesia type 3 ciliary dyskinesia, primary, 3 ciliary dyskinesia, primary, 3, with or without situs inversus primary ciliary dyskinesia 3 MONDO:0012086 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p21.3. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA31 autosomal dominant deafness 31 autosomal dominant nonsyndromic deafness 31 autosomal dominant nonsyndromic deafness type 31 deafness, autosomal dominant 31 autosomal dominant nonsyndromic hearing loss 31 MONDO:0012087 A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has material basis in variation in the chromosome region 15q13.1-q15.1. CILD4 primary ciliary dyskinesia 4 with or without situs inversus primary ciliary dyskinesia type 4 ciliary dyskinesia, primary, 4 ciliary dyskinesia, primary, 4, with or without situs inversus primary ciliary dyskinesia 4 MONDO:0012088 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the HYDIN gene. CILD5 HYDIN primary ciliary dyskinesia ciliary dyskinesia, primary, type 5 primary ciliary dyskinesia 5 without situs inversus primary ciliary dyskinesia caused by mutation in HYDIN primary ciliary dyskinesia type 5 ciliary dyskinesia, primary, 5 ciliary dyskinesia, primary, 5, without situs inversus primary ciliary dyskinesia 5 MONDO:0012089 Ichthyosis prematurity syndrome is a rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy. IPS congenital ichthyosis type 4 ichthyosis prematurity syndrome idiopathic pneumonia syndrome ichthyosis congenita 4 ichthyosis congenita IV ichthyosis-prematurity syndrome ichthyosis prematurity syndrome https://rarediseases.info.nih.gov/diseases/9886/ichthyosis-prematurity-syndrome MONDO:0012090 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 9p22-p21. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA47 autosomal dominant deafness 47 autosomal dominant nonsyndromic deafness 47 autosomal dominant nonsyndromic deafness type 47 deafness, autosomal dominant 47 autosomal dominant nonsyndromic hearing loss 47 MONDO:0012091 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in variation in the chromosome region 1p22.1-p13.3. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 CDC14A autosomal recessive nonsyndromic deafness DFNB105 DFNB32 autosomal recessive deafness 105 autosomal recessive deafness 32 autosomal recessive nonsyndromic deafness 105 autosomal recessive nonsyndromic deafness 32 autosomal recessive nonsyndromic deafness caused by mutation in CDC14A autosomal recessive nonsyndromic deafness type 105 autosomal recessive nonsyndromic deafness type 32 deafness, autosomal recessive 105 deafness, autosomal recessive 32 deafness, autosomal recessive 32, with or without immotile sperm deafness, autosomal recessive type 105 autosomal recessive nonsyndromic hearing loss 32 MONDO:0012092 Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies. HSAN5 NGF autosomal recessive hereditary sensory and autonomic neuropathy autosomal recessive hereditary sensory and autonomic neuropathy caused by mutation in NGF congenital insensitivity to pain and thermal analgesia hereditary sensory and autonomic neuropathy type V HSAN 5 HSAN V insensitivity to pain, congenital neuropathy, hereditary sensory and autonomic, type 5 neuropathy, hereditary sensory and autonomic, type V hereditary sensory and autonomic neuropathy type 5 MONDO:0012093 https://github.com/monarch-initiative/mondo/issues/4521 prostate cancer, hereditary, 3 prostate cancer, hereditary, type 3 prostate cancer, susceptibility to, 3 HPC3 prostate cancer, hereditary, 3 MONDO:0012094 https://github.com/monarch-initiative/mondo/issues/4521 prostate cancer, hereditary, 4 prostate cancer, hereditary, type 4 prostate cancer, susceptibility to, 4 HPC4 prostate cancer, hereditary, on chromosome 7 prostate cancer, hereditary, 4 MONDO:0012095 Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness. https://github.com/monarch-initiative/mondo/issues/5588 ROBIN sequence with distinctive facial appearance and brachydactyly intellectual disability-brachydactyly-Pierre Robin syndrome MONDO:0012096 Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow. CMT2L Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB8 Charcot-Marie-Tooth neuropathy axonal type 2L HSPB8 Charcot-Marie-Tooth disease type 2 autosomal dominant Charcot-Marie-Tooth disease type 2L autosomal dominant axonal Charcot-Marie-Tooth disease type 2L Charcot-Marie-Tooth disease type 2L Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2L Charcot-Marie-Tooth disease, axonal, type 2L Charcot-Marie-Tooth neuropathy, axonal, type 2L Charcot-Marie-Tooth disease axonal type 2L MONDO:0012097 https://github.com/monarch-initiative/mondo/issues/4948 spondylocostal dysostosis 2, autosomal recessive SCDO2 spondylocostal dysostosis 2 spondylocostal dysostosis 2, autosomal recessive MONDO:0012098 Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar dysarthria as the initial typical manifestation. SCA20 spinocerebellar ataxia type 20 chromosome 11q12 duplication syndrome, 260-Kb spinocerebellar ataxia 20 spinocerebellar ataxia with dysphonia spinocerebellar ataxia with spasmodic cough spinocerebellar ataxia type 20 MONDO:0012099 AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 5-amino-4-imidazole carboxamide ribosiduria AICA-ribosiduria due to ATIC deficiency ATIC deficiency AICAR transformylase/IMP cyclohydrolase deficiency Aica-Ribosuria due to Atic deficiency Atic deficiency AICA-ribosiduria MONDO:0012100 https://github.com/monarch-initiative/mondo/issues/5509 MDD2 major depressive disorder 2 major depressive disorder type 2 unipolar depression 2 major depressive disorder 2 MONDO:0012101 GLC1J JOAG1J JOAG2 glaucoma 1, open angle, J glaucoma, primary open angle, juvenile-onset, 2 glaucoma 1, open angle, J MONDO:0012102 https://github.com/monarch-initiative/mondo/issues/4521 GLC1K JOAG1K glaucoma 1, open angle, K glaucoma 1K, primary open angle, juvenile-onset glaucoma, primary open angle, juvenile-onset, 3 glaucoma 1, open angle, K MONDO:0012103 Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia and prominent sensory neuropathy. SCA25 spinocerebellar ataxia 25 spinocerebellar ataxia type 25 MONDO:0012104 A lipodystrophy characterised by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs. APLD Barraquer-Simons syndrome acquired partial lipodystrophy partial acquired lipodystrophy progressive cephalothoracic lipodystrophy APLD, susceptibility to lipodystophy partial progressive lipodystrophy cephalothoracic type lipodystrophy partial acquired lipodystrophy, cephalothoracic type lipodystrophy, partial, acquired, susceptibility to lipodystrophy, partial, progressive susceptibility to partial acquired lipodystrophy acquired partial lipodystrophy MONDO:0012105 A small-vessel necrotizing vasculitis characterised by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis. https://github.com/monarch-initiative/mondo/issues/5261 ANCA-associated vasculitis Wg GPA Wegener granulomatosis Wegener's granulomatosis Wegener's syndrome granulomatosis - Wegener's granulomatosis with polyangiitis necrotizing respiratory granulomatosis pauci-immune glomerulonephritis associated with granulomatosis with polyangiitis Midline granulomatosis granulomatosis with polyangiitis MONDO:0012106 Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the ASPM gene. ASPM autosomal recessive primary microcephaly autosomal recessive primary microcephaly caused by mutation in ASPM microcephaly 5, primary, autosomal recessive MCPH5 microcephaly 5, primary, autosomal recessive MONDO:0012107 neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia MONDO:0012108 A spondyloepimetaphyseal dysplasia characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5280 SEMD, MATN3-related SEMD, matrilin-3 type spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type SEMD MATN3-related spondyloepimetaphyseal dysplasia matrilin-3 related spondyloepimetaphyseal dysplasia matrilin-3 type spondyloepimetaphyseal dysplasia, matrilin-3 related spondyloepimetaphyseal dysplasia, matrilin-3 type MONDO:0012109 https://github.com/monarch-initiative/mondo/issues/4882 hypertension, essential, susceptibility to, 4 hypertension, essential, susceptibility to, type 4 Hyt4 hypertension, essential, susceptibility to, 4 MONDO:0012110 Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit. https://github.com/monarch-initiative/mondo/issues/4521 IGF-1 deficiency growth delay-deafness- intellectual disability syndrome growth retardation with deafness and mental retardation due to IGF1 deficiency primary insulin-like growth factor deficiency IGF1 deficiency growth retardation with sensorineural deafness and intellectual disability growth retardation with sensorineural deafness and mental retardation insulin-like growth Factor 1 deficiency insulin-like growth factor I deficiency growth delay due to insulin-like growth factor type 1 deficiency MONDO:0012111 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL3 gene. https://github.com/monarch-initiative/mondo/issues/4521 MYL3 hypertrophic cardiomyopathy cardiomyopathy hypertrophic mid-left ventricular chamber type 1 cardiomyopathy, familial hypertrophic, 8 cardiomyopathy, familial hypertrophic, type 8 cardiomyopathy, hypertrophic, 8 hypertrophic cardiomyopathy 8 hypertrophic cardiomyopathy caused by mutation in MYL3 hypertrophic cardiomyopathy type 8 CMH8 cardiomyopathy, hypertrophic, mid-left ventricular chamber type, 1 hypertrophic cardiomyopathy 8 MONDO:0012112 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL2 gene. https://github.com/monarch-initiative/mondo/issues/4521 CMH10 MYL2 hypertrophic cardiomyopathy cardiomyopathy, familial hypertrophic, 10 cardiomyopathy, familial hypertrophic, type 10 cardiomyopathy, hypertrophic, 10 hypertrophic cardiomyopathy 10 hypertrophic cardiomyopathy caused by mutation in MYL2 hypertrophic cardiomyopathy type 10 cardiomyopathy, hypertrophic, mid-left ventricular chamber type, 2 hypertrophic cardiomyopathy 10 MONDO:0012113 https://github.com/monarch-initiative/mondo/issues/2543 EIG3 epilepsy, idiopathic generalized, susceptibility to, 3 epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 9 epilepsy, idiopathic generalized, susceptibility to, 3 MONDO:0012114 Ehlers-Danlos syndrome, Beasley-Cohen type Ehlers-Danlos syndrome with intellectual disability, deafness, and cataract Ehlers-Danlos syndrome with mental retardation, deafness, and cataract Ehlers-Danlos syndrome, Beasley-Cohen type MONDO:0012115 IS3 scoliosis, isolated, susceptibility to, 3 scoliosis, isolated, susceptibility to, 3 MONDO:0012116 Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients. SCA8 spinocerebellar ataxia type 8 spinocerebellar ataxia 8 spinocerebellar ataxia type 8 MONDO:0012117 A form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23). ALG9-CDG ALG9-congenital disorder of glycosylation CDG syndrome type IL CDG-IL CDG1L carbohydrate deficient glycoprotein syndrome type 1L congenital disorder of glycosylation type 1L mannosyltransferase 7-9 deficiency ALG9-CDG (CDG-IL) CDG 1L CDG IL carbohydrate deficient glycoprotein syndrome type IL congenital disorder of glycosylation type IL congenital disorder of glycosylation, type IL ALG9-congenital disorder of glycosylation MONDO:0012118 COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex. CDG syndrome type IIe CDG-IIe CDG2E COG7-CDG COG7-congenital disorder of glycosylation carbohydrate deficient glycoprotein syndrome type IIe congenital disorder of glycosylation type 2e congenital disorder of glycosylation type IIe CDG 2E CDG IIe COG7-CDG (CDG-IIe) congenital disorder of glycosylation, type IIe COG7-congenital disorder of glycosylation MONDO:0012119 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 ASPG3 Asperger syndrome susceptibility 3 ASPERGER syndrome, susceptibility to, 3 asperger syndrome, susceptibility to, 3 MONDO:0012120 Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by lactic acidemia in the neonatal period. PDH phosphatase deficiency pyruvate dehydrogenase phosphatase deficiency PDHPD lactic acidemia with pyruvate dehydrogenase phosphatase deficiency pyruvate dehydrogenase phosphatase deficiency https://rarediseases.info.nih.gov/diseases/9888/pyruvate-dehydrogenase-phosphatase-deficiency MONDO:0012121 OTSC5 otosclerosis 5 otosclerosis 5 MONDO:0012122 MYMY3 Moyamoya disease 3 moyamoya disease 3 MONDO:0012123 The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common. https://github.com/monarch-initiative/mondo/issues/4069 CDG syndrome type Ie CDG-Ie CDG1E CDGIe DPM1 congenital disorder of glycosylation Dol-P-mannosyltransferase deficiency carbohydrate deficient glycoprotein syndrome type Ie congenital disorder of glycosylation caused by mutation in DPM1 congenital disorder of glycosylation type 1E congenital disorder of glycosylation type 1e congenital disorder of glycosylation type Ie CDG 1E CDG Ie DPM1-CDG DPM1-CDG (CDG-Ie) carbohydrate-deficient glycoprotein syndrome type 1E congenital disorder of glycosylation, type Ie congenital disorder of glycosylation type 1E MONDO:0012124 Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes. SIDDT sudden infant death - dysgenesis of the testes sudden infant death with dysgenesis of the testes syndrome sudden infant death-dysgenesis of the testes syndrome MONDO:0012125 Any leukodystrophy in which the cause of the disease is a mutation in the GJC2 gene. GJC2 leukodystrophy HLD2 PMLD1 Pelizaeus-Merzbacher-like disease 1 Pelizaeus-Merzbacher-like disease due to GJC2 mutation hypomyelinating leukodystrophy type 2 leukodystrophy caused by mutation in GJC2 leukodystrophy, hypomyelinating, type 2 Pelizaeus-Merzbacher-like disease, 1 leukodystrophy, hypomyelinating, 2 hypomyelinating leukodystrophy 2 MONDO:0012126 Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterised by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty. aseptic Necrosis of femoral head aseptic Necrosis of head of femur familial osteonecrosis of the femoral head ANFH ANFH1 avascular NECROSIS of femoral head, primary avascular NECROSIS of femoral head, primary, 1 avascular Necrosis of femoral head, primary, 1 familial avascular necrosis of the femoral head femoral head, aseptic Necrosis of femoral head, avascular Necrosis of ischemic Necrosis of femoral head osteonecrosis of femoral head primary avascular necrosis of the femoral head familial avascular necrosis of femoral head https://rarediseases.info.nih.gov/diseases/10914/familial-avascular-necrosis-of-the-femoral-head MONDO:0012127 Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset. https://github.com/monarch-initiative/mondo/issues/4521 LGMD2J TTN autosomal recessive limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy caused by mutation in TTN muscular dystrophy, limb-girdle, autosomal recessive 10 muscular dystrophy, limb-girdle, type 2J limb-girdle muscular dystrophy type 2J autosomal recessive limb-girdle muscular dystrophy type 2J MONDO:0012128 Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the MED13L gene. https://github.com/monarch-initiative/mondo/issues/5348 DTGA DTGA1 MED13L dextro-looped transposition of the great arteries dextro-looped transposition of the great arteries 1 dextro-looped transposition of the great arteries caused by mutation in MED13L dextro-looped transposition of the great arteries type 1 transposition of the great arteries, dextro-looped type 1 D-TGA transposition of the great arteries, dextro-looped 1 transposition of the great arteries, dextro-looped MONDO:0012129 leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema LACH leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema https://rarediseases.info.nih.gov/diseases/10065/leukoencephalopathy-arthritis-colitis-and-hypogammaglobulinema MONDO:0012130 Any autosomal dominant distal myopathy in which the cause of the disease is a mutation in the CRYAB gene. CRYAB autosomal dominant distal myopathy alpha-B crystallinopathy autosomal dominant distal myopathy caused by mutation in CRYAB late-onset distal crystallinopathy myofibrillar myopathy type 2 myopathy, myofibrillar, type 2 MFM2 alpha-B crystallin-related late-onset distal myopathy myopathy, desmin-related, associated with mutation in the Cryab Gene myopathy, myofibrillar, 2 myopathy, myofibrillar, alpha-B crystallin-related myopathy, myofibrillar, with or without cataract and/or cardiomyopathy myofibrillar myopathy 2 MONDO:0012131 https://github.com/monarch-initiative/mondo/issues/4948 metaphyseal undermodeling, spondylar dysplasia, and overgrowth overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome metaphyseal undermodeling, spondylar dysplasia, and overgrowth https://rarediseases.info.nih.gov/diseases/10066/metaphyseal-undermodeling-spondylar-dysplasia-and-overgrowth MONDO:0012132 Any colorectal cancer in which the cause of the disease is a mutation in the GALNT12 gene. GALNT12 colorectal cancer colorectal cancer caused by mutation in GALNT12 colorectal cancer, susceptibility to, 1 colorectal cancer, susceptibility to, type 1 CRCS1 colorectal adenoma and cancer, susceptibility to colorectal cancer, susceptibility to, on chromosome 9 susceptibility to colorectal cancer 1 colorectal cancer, susceptibility to, 1 MONDO:0012133 lateral semicircular canal malformation, familial, with external and middle ear abnormalities lateral semicircular canal malformation, familial, with external and middle ear abnormalities https://rarediseases.info.nih.gov/diseases/10067/lateral-semicircular-canal-malformation-familial-with-external-and-middle-ear-abnormalities MONDO:0012134 https://github.com/monarch-initiative/mondo/issues/4521 EJM3 epilepsy, juvenile myoclonic 3 myoclonic epilepsy, juvenile, susceptibility to, 3 myoclonic epilepsy, juvenile, susceptibility to, 3 MONDO:0012135 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 RLS2 restless legs syndrome 2 restless legs syndrome, susceptibility to, 2 restless legs syndrome, susceptibility to, 2 MONDO:0012136 The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure. https://github.com/monarch-initiative/mondo/issues/4521 CPT II deficiency, lethal neonatal CPT2, lethal systemic form CPT2, neonatal form CPTII, lethal systemic form CPTII, neonatal form Carnitine palmitoyl transferase II deficiency, lethal systemic form Carnitine palmitoyl transferase deficiency type 2, lethal systemic form Carnitine palmitoyl transferase deficiency type 2, neonatal form carnitine palmitoyl transferase II deficiency, neonatal form CARNITINE PALMITOYLTRANSFERASE II deficiency, lethal neonatal CPT 2 deficiency, lethal neonatal Carnitine Palmitoyltransferase 2 deficiency, antenatal Carnitine Palmitoyltransferase 2 deficiency, lethal neonatal Carnitine Palmitoyltransferase 2 deficiency, neonatal Cpt2 deficiency, lethal neonatal carnitine palmitoyl transferase II deficiency, neonatal form MONDO:0012137 Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities). Carney complex variant CARNEY complex variant Carney complex - trismus - pseudocamptodactyly syndrome MONDO:0012138 A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12. MDC1D MDDGB6 congenital muscular dystrophy large-related congenital muscular dystrophy type 1D muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 6 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 muscular dystrophy, congenital, large-related muscular dystrophy, congenital, type 1D muscular dystrophy-dystroglycanopathy type B6 MONDO:0012139 macular dystrophy, retinal, 3 macular dystrophy, retinal, type 3 MCDR3 Mcdr3 macular dystrophy, retinal, 3 MONDO:0012141 Any orofacial cleft in which the cause of the disease is a mutation in the IRF6 gene. https://github.com/monarch-initiative/mondo/issues/4521 IRF6 orofacial cleft orofacial cleft 6 orofacial cleft 6, susceptibility to orofacial cleft caused by mutation in IRF6 OFC6 cleft lip with or without cleft palate, nonsyndromic, 6 susceptibility to orofacial cleft 6 orofacial cleft 6, susceptibility to MONDO:0012142 Any orofacial cleft in which the cause of the disease is a mutation in the MSX1 gene. MSX1 orofacial cleft orofacial cleft 5 orofacial cleft caused by mutation in MSX1 orofacial cleft type 5 OFC5 cleft lip with or without cleft palate, nonsyndromic, 5 orofacial cleft 5 MONDO:0012143 https://github.com/monarch-initiative/mondo/issues/4985 https://github.com/monarch-initiative/mondo/issues/5588 ChC type 2 hereditary cryohydrocytosis type 2 sdCHC stomatin-deficient cryohydrocytosis GLUT1 deficiency syndrome with pseudohyperkalemia and hemolysis SDCHCN cryohydrocytosis, stomatin-deficient, with intellectual disability, seizures, cataracts, and massive hepatosplenomegaly cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly stomatin-deficient cryohydrocytosis with neurologic defects hereditary cryohydrocytosis with reduced stomatin MONDO:0012144 Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SNAI2 gene. SNAI2 Waardenburg syndrome type 2 WS2D Waardenburg syndrome type 2 caused by mutation in SNAI2 Waardenburg syndrome type IID Waardenburg syndrome, type 2D Waardenburg syndrome type 2D MONDO:0012145 Any age-related macular degeneration in which the cause of the disease is a mutation in the FBLN5 gene. FBLN5 age-related macular degeneration age-related macular degeneration caused by mutation in FBLN5 macular Degeneration, age-related, type 3 macular degeneration, age-related, 3 ARMD3 HNARMD neuropathy, hereditary, with or without age-related macular Degeneration neuropathy, hereditary, with or without age-related macular degeneration macular degeneration, age-related, 3 MONDO:0012146 Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the UNC13D gene. FHL3 HLH3 HPLH3 UNC13D genetic hemophagocytic lymphohistiocytosis familial hemophagocytic lymphohistiocytosis type 3 genetic hemophagocytic lymphohistiocytosis caused by mutation in UNC13D hemophagocytic lymphohistiocytosis, familial, type 3 Hlh3 Hplh3 hemophagocytic lymphohistiocytosis, familial, 3 familial hemophagocytic lymphohistiocytosis 3 https://rarediseases.info.nih.gov/diseases/9928/hemophagocytic-lymphohistiocytosis-familial-3 MONDO:0012147 Any coronary artery disease in which the cause of the disease is a mutation in the KALRN gene. KALRN coronary artery disease coronary artery disease caused by mutation in KALRN coronary heart disease, susceptibility to, 5 coronary heart disease, susceptibility to, type 5 Chds5 coronary artery disease, early-onset susceptibility to coronary heart disease 5 coronary heart disease, susceptibility to, 5 MONDO:0012149 https://github.com/monarch-initiative/mondo/issues/4882 ADHD1 attention deficit-hyperactivity disorder, susceptibility to, 1 attention deficit-hyperactivity disorder, susceptibility to, type 1 attention deficit-hyperactivity disorder, susceptibility to, 1 MONDO:0012150 https://github.com/monarch-initiative/mondo/issues/4882 ADHD2 attention Deficit-hyperactivity disorder, susceptibility to, type 2 attention deficit-hyperactivity disorder, susceptibility to, 2 attention deficit-hyperactivity disorder, susceptibility to, 2 MONDO:0012151 https://github.com/monarch-initiative/mondo/issues/4882 ADHD3 attention Deficit-hyperactivity disorder, susceptibility to, type 3 attention deficit-hyperactivity disorder, susceptibility to, 3 attention deficit-hyperactivity disorder, susceptibility to, 3 MONDO:0012152 https://github.com/monarch-initiative/mondo/issues/4882 ADHD4 attention Deficit-hyperactivity disorder, susceptibility to, type 4 attention deficit-hyperactivity disorder, susceptibility to, 4 attention deficit-hyperactivity disorder, susceptibility to, 4 MONDO:0012153 AD9 Alzheimer disease 9 Alzheimer disease 9, late-onset Alzheimer disease 9, susceptibility to Alzheimer disease 9 MONDO:0012154 Any myopia in which the cause of the disease is a mutation in the SCO2 gene. SCO2 myopia (disease) myopia (disease) caused by mutation in SCO2 myopia 6 myopia type 6 MYP6 myopia, susceptibility to myopia 6 https://rarediseases.info.nih.gov/diseases/9937/myopia-6 MONDO:0012155 Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction. atresia of nares imperforate nares posterior choanal atresia PCA choanal atresia, POSTERIOR choanal atresia MONDO:0012156 A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has material basis in mutation in the CHRNA1 gene on chromosome 2q. https://github.com/monarch-initiative/mondo/issues/4069 CMS1B congenital myasthenic syndrome 1B, fast-channel congenital myasthenic syndrome type 1B myasthenic syndrome, congenital, 1B, fast-channel congenital myasthenic syndrome 1B myasthenic syndrome, congenital, 1B, FAST-channel myasthenic syndrome, congenital, 1B, fast-channel MONDO:0012157 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. https://github.com/monarch-initiative/mondo/issues/4069 CMS Id CMS1D CMS4C FIM1 congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency congenital myasthenic syndrome type 4C congenital myasthenic syndrome type Id familial infantile myasthenia 1 Cms Id Cms Id, formerly congenital myasthenic syndrome associated with acetylcholine receptor deficiency myasthenia, familial infantile, 1 myasthenia, familial infantile, 1, formerly myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency myasthenic syndrome, congenital, type Id congenital myasthenic syndrome 4C MONDO:0012158 KTCN2 keratoconus 2 keratoconus 2 MONDO:0012159 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 LNCR1 lung cancer susceptibility lung cancer susceptibility 1 lung cancer susceptibility 1 MONDO:0012160 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive. https://github.com/monarch-initiative/mondo/issues/4948 SmD-CRD spondylometaphyseal dysplasia-cone-rod dystrophy syndrome SMDCRD spondylometaphyseal dysplasia with cone-rod dystrophy spondylometaphyseal dysplasia-cone-rod dystrophy syndrome MONDO:0012161 Susceptibility to respiratory infections associated with CD8 alpha chain mutation is a rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes. familial CD8 deficiency susceptibility to respiratory infections associated with CD8alpha chain mutation CD8 deficiency, familial susceptibility to respiratory infections associated with CD8alpha chain mutation MONDO:0012162 Any patterned macular dystrophy in which the cause of the disease is a mutation in the CTNNA1 gene. CTNNA1 patterned macular dystrophy MDPT2 butterfly-shaped pigmentary maculary dystrophy 2 macular dystrophy, patterned, type 2 patterned macular dystrophy caused by mutation in CTNNA1 patterned macular dystrophy type 2 macular dystrophy, butterfly-Shaped pigmentary, 2 macular dystrophy, patterned, 2 patterned macular dystrophy 2 MONDO:0012163 A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has material basis in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5160 IMD104 autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive immunodeficiency 104 MONDO:0012164 Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. Meacham syndrome Meacham-Winn-Culler syndrome Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome Double vagina, cardiac, pulmonary, and other genital malformations with 46,XY karyotype Meacham Winn Culler syndrome Meacham syndrome MONDO:0012165 BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome. bifid nose with or without anorectal and renal anomalies BNAR bifid NOSE with or without anorectal and renal anomalies BNAR syndrome MONDO:0012166 Any hereditary ataxia in which the cause of the disease is a mutation in the RNF170 gene. ADSA RNF170 hereditary ataxia SNAX1 hereditary ataxia caused by mutation in RNF170 Adsa ataxia, sensory, 1, autosomal dominant autosomal dominant sensory ataxia 1 MONDO:0012167 ATFB2 atrial fibrillation, familial, 2 atrial fibrillation, familial, 2 MONDO:0012168 https://github.com/monarch-initiative/mondo/issues/4521 DYX8 dyslexia, susceptibility to, 8 dyslexia, susceptibility to, 8, multifactorial dyslexia, susceptibility to, 8 MONDO:0012169 premature ovarian failure 3 premature ovarian failure type 3 Pof3 premature ovarian failure 3 MONDO:0012170 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESPN gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 deafness, neurosensory, without vestibular involvement, autosomal dominant DFNB36 ESPN autosomal recessive nonsyndromic deafness autosomal recessive deafness 36 autosomal recessive nonsyndromic deafness 36 autosomal recessive nonsyndromic deafness caused by mutation in ESPN autosomal recessive nonsyndromic deafness type 36 deafness, autosomal dominant, without vestibular involvement deafness, autosomal recessive 36 deafness, autosomal recessive 36, with or without vestibular involvement autosomal recessive nonsyndromic hearing loss 36 MONDO:0012171 marfanoid habitus with situs inversus marfanoid habitus with situs inversus MONDO:0012172 Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.. TFP deficiency TFPD mitochondrial trifunctional protein deficiency MTPD mitochondrial trifunctional PROTEIN deficiency trifunctional Protein deficiency trifunctional Protein deficiency with myopathy and neuropathy mitochondrial trifunctional protein deficiency https://rarediseases.info.nih.gov/diseases/3684/mitochondrial-trifunctional-protein-deficiency MONDO:0012173 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy. https://github.com/monarch-initiative/mondo/issues/4521 HELLP syndrome, maternal, of pregnancy LCHAD deficiency LCHADD fatty liver, acute, of pregnancy long chain 3-hydroxyacyl-CoA dehydrogenase deficiency long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency 3-hydroxyacyl-CoA dehydrogenase long chain deficiency long-chain 3-OH acyl-CoA dehydrogenase deficiency long-chain 3-hydroxy acyl CoA dehydrogenase deficiency long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency trifunctional protein deficiency type 1 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency MONDO:0012174 peripheral cone dystrophy peripheral cone dystrophy MONDO:0012175 A cataract that has material basis in variation in the region 6p12-q12. https://github.com/monarch-initiative/mondo/issues/4521 ARCC1 CTRCT28 age-related cortical cataract 1 cataract 28 cataract 28, age-related cortical, susceptibility to cataract type 28 cataract, age-related cortical, 1 cataract 28 MONDO:0012176 Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities. https://github.com/monarch-initiative/mondo/issues/4521 Der(22)t(11;22) syndrome Emanuel syndrome supernumerary der(22) syndrome Ehlers-Danlos syndrome, classic-like, 1 supernumerary Der(22)T(11 supernumerary der(22),t(11;22) syndrome Emanuel syndrome https://rarediseases.info.nih.gov/diseases/9835/emanuel-syndrome MONDO:0012177 Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa. https://github.com/monarch-initiative/mondo/issues/4521 PCARP ataxia, posterior column, with retinitis pigmentosa autosomal recessive posterior column ataxia and retinitis pigmentosa AXPC1 POSTERIOR column ataxia with retinitis pigmentosa Pcarp posterior column ataxia-retinitis pigmentosa syndrome MONDO:0012178 intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature mental retardation with optic atrophy, facial dysmorphism, microcephaly, and short stature intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature MONDO:0012179 NRCLP3 narcolepsy 3 narcolepsy 3 MONDO:0012180 Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the PKP2 gene. ARVC9 ARVD9 PKP2 familial isolated arrhythmogenic right ventricular dysplasia arrhythmogenic right ventricular cardiomyopathy 9 arrhythmogenic right ventricular dysplasia 9 arrhythmogenic right ventricular dysplasia type 9 arrhythmogenic right ventricular dysplasia, familial, type 9 familial arrhythmogenic right ventricular dysplasia 9 familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in PKP2 arrhythmogenic right ventricular dysplasia, familial, 9 arrhythmogenic right ventricular dysplasia 9 MONDO:0012181 A hereditary spastic paraplegia that has material basis in variation in the chromosome region 10q22.1-q24.1. SPG27 autosomal recessive spastic paraplegia 27 autosomal recessive spastic paraplegia type 27 hereditary spastic paraplegia type 27 spastic paraplegia 27, autosomal recessive hereditary spastic paraplegia 27 MONDO:0012182 skeletal dysplasia, rhizomelic, with retinitis pigmentosa skeletal dysplasia, rhizomelic, with retinitis pigmentosa MONDO:0012183 https://github.com/monarch-initiative/mondo/issues/4521 melanoma, cutaneous malignant, 3 melanoma, cutaneous malignant, susceptibility to, 3 melanoma, cutaneous malignant, susceptibility to, type 3 CMM3 susceptibility to cutaneous malignant melanoma 3 melanoma, cutaneous malignant, susceptibility to, 3 MONDO:0012184 Pierson syndrome is characterised by the association of congenital nephrotic syndrome and ocular anomalies with microcoria. Pierson syndrome microcoria-congenital nephrosis syndrome microcoria - congenital nephrosis microcoria - congenital nephrotic syndrome microcoria-congenital nephrotic syndrome Pierson syndrome https://rarediseases.info.nih.gov/diseases/9420/pierson-syndrome MONDO:0012185 spondylometaphyseal dysplasia A4 type spondylometaphyseal dysplasia type A4 spondylometaphyseal dysplasia, type A4 spondylometaphyseal dysplasia, A4 type https://rarediseases.info.nih.gov/diseases/458/spondylometaphyseal-dysplasia-type-a4 MONDO:0012186 Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein. FANCI Fanconi Anemia, complementation group type 1 Fanconi anemia complementation group I Fanconi anemia complementation group type I Fanconi Anemia, complementation Group 1 Fanconi anemia, complementation group I Fanconi anemia complementation group I MONDO:0012187 Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein. FANCJ Fanconi Anemia, complementation group type J Fanconi anemia complementation group J Fanconi anemia complementation group type J Fanconi anemia, complementation group J Fanconi anemia complementation group J MONDO:0012188 Neuronal ceroid lipofuscinosis 9 (CLN9-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 4 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). The underlying genetic cause of CLN9-NCLis unknown but it appears to be inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms. CLN9 neuronal ceroid lipofuscinosis type 9 CLN 9 CLN9 disease ceroid lipofuscinosis, neuronal, 9 neuronal ceroid lipofuscinosis 9 https://rarediseases.info.nih.gov/diseases/6618/neuronal-ceroid-lipofuscinosis-9 MONDO:0012190 https://github.com/monarch-initiative/mondo/issues/4521 epidermolysis bullosa simplex 7, with nephropathy and deafness nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome nephropathy with pretibial epidermolysis bullosa and deafness nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome MONDO:0012191 Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement. GFM1 combined oxidative phosphorylation deficiency Hepatoencephalopathy due to COXPD1 combined oxidative phosphorylation deficiency caused by mutation in GFM1 combined oxidative phosphorylation deficiency type 1 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 COXPD1 Hepatoencephalopathy, early fatal progressive combined oxidative phosphorylation deficiency 1 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 MONDO:0012192 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis. pancreatic and cerebellar agenesis diabetes mellitus, permanent neonatal, with cerebellar agenesis paca permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome MONDO:0012193 Autosomal dominant limb-girdle muscular dystrophy (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed. https://github.com/monarch-initiative/mondo/issues/4521 HNRNPDL autosomal dominant limb-girdle muscular dystrophy LGMD1G autosomal dominant limb-girdle muscular dystrophy caused by mutation in HNRNPDL muscular dystrophy limb-girdle type 1G muscular dystrophy, limb-girdle, autosomal dominant 3 limb-girdle muscular dystrophy type 1G limb-girdle muscular dystrophy, type 1G autosomal dominant limb-girdle muscular dystrophy type 1G MONDO:0012194 ANIB3 aneurysm, intracranial BERRY, 3 aneurysm, intracranial berry, 3 MONDO:0012195 Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal. distal arthrogryposis type 4 distal arthrogryposis type IID DA4 arthrogryposis with Severe scoliosis arthrogryposis, distal, type 2D arthrogryposis, distal, type 4 arthrogryposis-severe scoliosis syndrome MONDO:0012196 Any auditory neuropathy in which the cause of the disease is a mutation in the DIAPH3 gene. AUNA1 DIAPH3 auditory neuropathy NSDAN auditory neuropathy caused by mutation in DIAPH3 auditory neuropathy, autosomal dominant, type 1 autosomal dominant auditory neuropathy type 1 nonsyndromic dominant auditory neuropathy auditory neuropathy, autosomal dominant, 1 auditory neuropathy, nonsyndromic dominant autosomal dominant auditory neuropathy 1 MONDO:0012197 Aplastic anemia without a known cause. idiopathic aplastic aplasia idiopathic bone marrow failure anemia aplastic aplastic Anemia, susceptibility to aplastic anemia aplastic anemia idiopathic secondary aplastic anemia idiopathic aplastic anemia MONDO:0012198 A syndrome characterized by the association of the features of Waardenburg-Shah syndrome (WSS) (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease) with neurological features, namely, neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy. https://github.com/monarch-initiative/mondo/issues/5682 PCWH WS4 plus neurologic Waardenburg-Shah syndrome peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome Waardenburg-Shah syndrome, neurologic variant peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease PCWH syndrome MONDO:0012199 Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the COL8A2 gene. https://github.com/monarch-initiative/mondo/issues/4521 COL8A2 posterior polymorphous corneal dystrophy Ppcd2 corneal dystrophy, posterior polymorphous 2 corneal dystrophy, posterior polymorphous, type 2 posterior polymorphous corneal dystrophy caused by mutation in COL8A2 posterior polymorphous corneal dystrophy type 2 PPCD2 corneal dystrophy, POSTERIOR polymorphous, 2 posterior polymorphous corneal dystrophy 2 MONDO:0012200 Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the ZEB1 gene. Ppcd3 ZEB1 posterior polymorphous corneal dystrophy corneal dystrophy, posterior polymorphous, type 3 posterior polymorphous corneal dystrophy caused by mutation in ZEB1 posterior polymorphous corneal dystrophy type 3 PPCD3 corneal dystrophy, POSTERIOR polymorphous, 3 posterior polymorphous corneal dystrophy 3 MONDO:0012202 malaria, mild, susceptibility to Mals susceptibility to mild malaria malaria, mild, susceptibility to MONDO:0012203 Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history. familial non-immune hyperthyroidism resistance to thyroid stimulating hormone Nonautoimmune hyperthyroidism hyperthyroidism, NONAUTOIMMUNE hyperthyroidism, Nonautoimmune, autosomal dominant hyperthyroidism, congenital Nonautoimmune toxic thyroid hyperplasia, autosomal dominant familial hyperthyroidism due to mutations in TSH receptor MONDO:0012204 An inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis. PSHK2 pseudohyperkalemia, familial, 2, due to red cell leak cryohydrocytosis, mild pseudohyperkalemia Chiswick pseudohyperkalemia East London pseudohyperkalemia Falkirk pseudohyperkalemia Lille familial pseudohyperkalemia MONDO:0012205 Autosomal dominant striatal degeneration is a neurologic disorder characterized by variable movement abnormalities due to dysfunction in the striatal part of the basal ganglia. ADSD1 PDE8B striatal degeneration, autosomal dominant striatal Degeneration, autosomal dominant 1 striatal degeneration, autosomal dominant 1 striatal degeneration, autosomal dominant caused by mutation in PDE8B ADSD autosomal dominant striatal neurodegeneration striatal degeneration, autosomal dominant autosomal dominant striatal neurodegeneration type 1 MONDO:0012206 Czech dysplasia, metatarsal type is a form of skeletal dysplasia characterised by severe arthropathy beginning in childhood and hypoplasia/dysplasia of the third, fourth and/or fifth toes. https://github.com/monarch-initiative/mondo/issues/4948 Czech dysplasia, metatarsal type Czech dysplasia Czech dysplasia metatarsal type pseudorheumatoid dysplasia progressive, with hypoplastic toes pseudorheumatoid dysplasia, progressive, with hypoplastic toes spondyloepiphyseal dysplasia with precocious osteoarthritis Czech dysplasia, metatarsal type https://rarediseases.info.nih.gov/diseases/10220/czech-dysplasia-metatarsal-type MONDO:0012207 umbilicus, familial flat flat umbilicus autosomal dominant flat umbilicus familial flat umbilicus, autosomal dominant umbilicus, familial flat https://rarediseases.info.nih.gov/diseases/9490/flat-umbilicus-familial MONDO:0012208 https://github.com/monarch-initiative/mondo/issues/4069 CRIE IWC ichthyosis variegata ichthyosis with confetti Aarau disease erythroderma, ichthyosiform, congenital reticular erythrokeratoderma, reticular congenital reticular ichthyosiform erythroderma MONDO:0012209 Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent. MC)garbanC)-Loiselet syndrome Mégarbané-Loiselet syndrome BRANCHIOGENIC-deafness syndrome branchiogenic deafness syndrome MONDO:0012210 migraine with aura, susceptibility to, 7 migraine with aura, susceptibility to, type 7 Mgr7 migraine with aura, susceptibility to, 7 MONDO:0012211 The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies. https://github.com/monarch-initiative/mondo/issues/5682 CDG syndrome type If CDG-If CDG1F CDGIf MPDU1-CDG carbohydrate deficient glycoprotein syndrome type If congenital disorder of glycosylation type 1f congenital disorder of glycosylation type If CDG 1F CDG If MPDU1-CDG (CDG-If) carbohydrate-deficient glycoprotein syndrome type 1F congenital disorder of glycosylation, type If MPDU1-congenital disorder of glycosylation MONDO:0012212 A rare autosomal dominant syndrome caused by mutations in the TGFBR1 gene. It is characterized by vascular abnormalities (aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries), hypertelorism, bifid uvula, and early fusion of the skull bones. https://github.com/monarch-initiative/mondo/issues/4948 Furlong syndrome Loeys-Dietz syndrome 1 Loeys-Dietz syndrome caused by mutation in TGFBR1 Loeys-Dietz syndrome type 1 TGFBR1 Loeys-Dietz syndrome LDS1 Loeys-Dietz aortic aneurysm syndrome aortic aneurysm, familial thoracic 5 Loeys-Dietz syndrome 1 MONDO:0012213 A rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1. GM2 synthase deficiency SPG26 autosomal recessive spastic paraplegia 26 autosomal recessive spastic paraplegia type 26 hereditary spastic paraplegia type 26 spastic paraplegia 26 spastic paraplegia 26, autosomal recessive hereditary spastic paraplegia 26 MONDO:0012214 GCCD3 glucocorticoid deficiency 3 familial glucocorticoid deficiency 3 glucocorticoid deficiency 2 glucocorticoid deficiency 2, formerly glucocorticoid deficiency 3 MONDO:0012215 A rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years. LGMD1A MYOT autosomal dominant distal myopathy MYOT autosomal dominant limb-girdle muscular dystrophy autosomal dominant distal myopathy caused by mutation in MYOT autosomal dominant limb-girdle muscular dystrophy caused by mutation in MYOT autosomal dominant limb-girdle muscular dystrophy type 1A distal myotilinopathy limb-girdle muscular dystrophy due to myotilin deficiency muscular dystrophy limb-girdle type 1A myofibrillar myopathy type 3 myopathy, myofibrillar, type 3 myotilinopathy proximal muscular dystrophy type 1A LGMD1 MFM3 limb-girdle muscular dystrophy type 1A muscular dystrophy, limb-girdle, type 1A muscular dystrophy, proximal, type 1A myopathy, myofibrillar, 3 myopathy, myofibrillar, myotilin-related myofibrillar myopathy 3 https://rarediseases.info.nih.gov/diseases/10229/limb-girdle-muscular-dystrophy-type-1a MONDO:0012216 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4985 FHONDA syndrome foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis foveal hypoplasia type 2 FVH2 foveal hypoplasia 2 foveal hypoplasia 2 with optic nerve decussation defects and anterior segment dysgenesis without albinism foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012217 Any Bruck syndrome in which the cause of the disease is a mutation in the PLOD2 gene. https://github.com/monarch-initiative/mondo/issues/4948 Bruck syndrome 2 Bruck syndrome caused by mutation in PLOD2 Bruck syndrome type 2 PLOD2 Bruck syndrome BRKS2 osteogenesis imperfecta with congenital Joint contractures Bruck syndrome 2 MONDO:0012218 ADDWOC Dandy-Walker malformation with occipital cephalocele, autosomal dominant dandy-walker malformation with occipital cephalocele, autosomal dominant MONDO:0012219 spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type MONDO:0012220 A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has material basis in mutation in the MLPH or MYO5A genes. GS3 Griscelli syndrome type 3 Griscelli-PruniC)ras syndrome type 3 Griscelli-Pruniéras syndrome type 3 Griscelli-Pruni��ras syndrome type 3 Griscelli disease type 3 Griscelli syndrome, type 3 hypomelanosis with no immunologic or neurologic manifestations Griscelli syndrome type 3 https://rarediseases.info.nih.gov/diseases/9715/griscelli-syndrome-type-3 MONDO:0012221 Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy. https://github.com/monarch-initiative/mondo/issues/4521 NAGA deficiency type 1 Schindler disease type 1 Schindler disease, type III Alpha-N-acetylgalactosaminidase deficiency, type 1 Alpha-N-acetylgalactosaminidase deficiency, type 3 N-acetyl-alpha-D-galactosaminidase deficiency type III NAGA deficiency, type 1 NAGA deficiency, type 3 Schindler disease type I Schindler disease, type 1 Schindler disease, type 3 Schindler disease, type I alpha-N-acetylgalactosaminidase deficiency, type 1 neuroaxonal dystrophy, Schindler type alpha-N-acetylgalactosaminidase deficiency type 1 MONDO:0012222 Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy. Kanzaki disease NAGA deficiency type 2 Schindler disease type 2 adult-onset Alpha-N-acetylgalactosaminidase deficiency Alpha-N-acetylgalactosaminidase deficiency adult onset Alpha-N-acetylgalactosaminidase deficiency, adult-onset Alpha-N-acetylgalactosaminidase deficiency, type 2 KANZAKI disease Naga deficiency, type 2 Schindler disease, type 2 alpha-N-acetylgalactosaminidase deficiency type 2 MONDO:0012223 hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate Marie Unna-like scalp hypotrichosis hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate MONDO:0012224 FEB6 febrile seizures, familial, 6 convulsions, familial febrile, 6 febrile seizures, familial, 6 MONDO:0012225 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the IQCB1 gene. IQCB1 Senior-Loken syndrome Senior-Loken syndrome 5 Senior-Loken syndrome caused by mutation in IQCB1 Senior-Loken syndrome type 5 SENIOR-Loken syndrome 5 SLSN5 Senior-Loken syndrome 5 MONDO:0012226 FEB5 febrile seizures, familial, 5 convulsions, familial febrile, 5 febrile seizures, familial, 5 MONDO:0012227 MYP7 myopia 7 myopia 7 MONDO:0012228 MYP8 myopia 8 myopia 8 MONDO:0012229 MYP9 myopia 9 myopia 9 MONDO:0012230 MYP10 myopia 10 myopia 10 MONDO:0012231 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is a subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported. https://github.com/monarch-initiative/mondo/issues/4521 CMT2A2 Charcot-Marie-Tooth disease type 2 caused by mutation in MFN2 Charcot-Marie-Tooth disease type 2A2A Charcot-Marie-Tooth disease, axonal, type 2A2A Charcot-Marie-Tooth neuronal type 2A2 Charcot-Marie-Tooth neuropathy type 2A2 HMSN IIA2 HMSN2A2 MFN2 Charcot-Marie-Tooth disease type 2 autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2 hereditary motor and sensory neuropathy IIA2 CMT2A2A Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2 Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2A Charcot-Marie-Tooth disease, axonal, type 2A2 Charcot-Marie-Tooth disease, neuronal, type 2A2 Charcot-Marie-Tooth neuropathy, type 2A2 HMSN IIa2 autosomal dominant Charcot-Marie-Tooth disease type 2A2 hereditary motor and sensory neuropathy IIa2 Charcot-Marie-Tooth disease type 2A2 MONDO:0012232 STUT2 stuttering, familial persistent, 2 stuttering, familial persistent, 2 MONDO:0012233 Any Li-Fraumeni syndrome in which the cause of the disease is a mutation in the CHEK2 gene. CHEK2 Li-Fraumeni syndrome Li-Fraumeni syndrome 2 Li-Fraumeni syndrome caused by mutation in CHEK2 Li-Fraumeni syndrome type 2 LFS2 Li-Fraumeni syndrome 2 MONDO:0012235 Spinocerebellar ataxia autosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia. Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cerebellar atrophy). Of the few reported cases in the literature, some patients also had eye involvement that included nystagmus (in voluntary eye movements)and saccadic pursuit eye movements. Out of 5 affected siblings examined in a large Dutch family, 2 became wheelchair-dependent late in life. The severity of the symptoms varies from mild to severe. SCAR7 is caused by mutations in the TPP1 gene and is inherited in an autosomal recessive manner. SCAR7 autosomal recessive spinocerebellar ataxia type 7 spinocerebellar ataxia, autosomal recessive type 7 childhood onset autosomal recessive slowly progressive spinocerebellar ataxia childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia spinocerebellar ataxia autosomal recessive 7 spinocerebellar ataxia, autosomal recessive 7 autosomal recessive spinocerebellar ataxia 7 https://rarediseases.info.nih.gov/diseases/12232/spinocerebellar-ataxia-autosomal-recessive-7 MONDO:0012236 KTCN4 keratoconus 4 keratoconus 4 MONDO:0012237 Any nemaline myopathy in which the cause of the disease is a mutation in the KBTBD13 gene. KBTBD13 nemaline myopathy nemaline myopathy 6 nemaline myopathy 6, autosomal dominant nemaline myopathy caused by mutation in KBTBD13 nemaline myopathy type 6 NEM6 nemaline myopathy 6 MONDO:0012238 Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the SLC25A4 gene. SLC25A4 progressive external ophthalmoplegia with mitochondrial DNA deletions progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in SLC25A4 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 2 PEOA2 progressive external ophthalmoplegia, autosomal dominant 2 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 MONDO:0012239 Any nemaline myopathy in which the cause of the disease is a mutation in the TPM3 gene. Nem1 TPM3 nemaline myopathy nemaline myopathy 1 nemaline myopathy 1, autosomal dominant or recessive nemaline myopathy caused by mutation in TPM3 nemaline myopathy type 1 Cap myopathy 1 NEM1 nemaline myopathy 1 MONDO:0012240 Any nemaline myopathy in which the cause of the disease is a mutation in the TPM2 gene. NEM4 TPM2 nemaline myopathy nemaline myopathy 4 nemaline myopathy 4, autosomal dominant nemaline myopathy caused by mutation in TPM2 nemaline myopathy type 4 Cap myopathy 2 nemaline myopathy 4 MONDO:0012241 Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the TWNK gene. TWNK progressive external ophthalmoplegia with mitochondrial DNA deletions progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in TWNK progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 3 PEOA3 progressive external ophthalmoplegia, autosomal dominant 3 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MONDO:0012242 VVS familial neurocardiogenic syncope familial vasovagal syncope syncope familial neurocardiogenic syncope, familial Neurocardiogenic syncope, familial VASOVAGAL syncope, familial vasovagal MONDO:0012243 B-cell immunodeficiency, distal limb anomalies, and urogenital malformations Bilu syndrome Hoffman syndrome B-cell immunodeficiency, distal limb anomalies, and urogenital malformations MONDO:0012244 prostate cancer, hereditary, 5 prostate cancer, hereditary, type 5 HPC5 prostate cancer, hereditary, 5 MONDO:0012245 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC25A22 gene. https://github.com/monarch-initiative/mondo/issues/4521 DEE3 EIEE3 SLC25A22 early infantile epileptic encephalopathy developmental and epileptic encephalopathy 3 early infantile epileptic encephalopathy caused by mutation in SLC25A22 epileptic encephalopathy, early infantile, 3 epileptic encephalopathy, early infantile, type 3 developmental and epileptic encephalopathy, 3 MONDO:0012246 Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities. SCA26 spinocerebellar ataxia type 26 spinocerebellar ataxia 26 spinocerebellar ataxia type 26 MONDO:0012247 Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia. SCA27 spinocerebellar ataxia type 27 cerebellar ataxia autosomal dominant FGF14-related cerebellar ataxia, autosomal dominant, Fgf14-related spinocerebellar ataxia 27 spinocerebellar ataxia type 27 MONDO:0012248 Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported. LGMD-POMT1 related LGMD2K MDDGC1 POMT1 autosomal recessive limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT1 limb-girdle muscular dystrophy-intellectual disability syndrome muscular dystrophy limb-girdle type 2K muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 1 muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1 limb-girdle muscular dystrophy - intellectual disability limb-girdle muscular dystrophy type 2K muscular dystrophy, limb-girdle, type 2K muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 autosomal recessive limb-girdle muscular dystrophy type 2K MONDO:0012249 Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH1 gene. https://github.com/monarch-initiative/mondo/issues/5666 Hereditary non-polyposis colon cancer type 2 Hereditary nonpolyposis colorectal cancer type 2 Lynch 2 syndrome colorectal cancer, hereditary nonpolyposis, type 2 familial non-polyposis colon cancer type 2 COCA2 HNPCC2 colon cancer, familial nonpolyposis, type 2 Lynch syndrome 2 MONDO:0012250 Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy CMT4H Charcot-Marie-Tooth disease type 4 caused by mutation in FGD4 Charcot-Marie-Tooth disease type 4H Charcot-Marie-Tooth neuropathy type 4H FGD4 Charcot-Marie-Tooth disease type 4 autosomal recessive Charcot-Marie-Tooth disease type 4H autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H Charcot-Marie-Tooth disease, autosomal recessive, type 4H Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4H Charcot-Marie-Tooth disease, type 4H Charcot-Marie-Tooth neuropathy, type 4H Charcot-Marie-Tooth disease type 4H https://rarediseases.info.nih.gov/diseases/12442/charcot-marie-tooth-disease-type-4h MONDO:0012251 MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia). https://github.com/monarch-initiative/mondo/issues/5588 erythrokeratodermia variabilis 3 erythrokeratodermia variabilis, Kamouraska type intellectual disability, enteropathy, deafness, neuropathy, ichthyosis, keratodermia intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia MEDNIK intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma MEDNIK syndrome MONDO:0012252 Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCB1 gene. https://github.com/monarch-initiative/mondo/issues/4521 SMARCB1 familial rhabdoid tumor familial rhabdoid tumor caused by mutation in SMARCB1 rhabdoid tumor predisposition syndrome 1 rhabdoid tumor predisposition syndrome type 1 rhabdoid tumors, somatic At/RT RTPS1 brain tumor, posterior fossa, of infancy, familial malignant rhabdoid tumor, somatic teratoid tumor, atypical rhabdoid tumor predisposition syndrome 1 MONDO:0012253 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated. epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia multiple epiphyseal dysplasia, with severe proximal femoral dysplasia MONDO:0012254 Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported. epiphyseal dysplasia, multiple, with miniepiphyses multiple epiphyseal dysplasia, with miniepiphyses MONDO:0012255 chromosome 18 pericentric inversion chromosome 18 pericentric inversion MONDO:0012256 Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations reported include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs. DDHD1 autosomal recessive pure spastic paraplegia SPG28 autosomal recessive pure spastic paraplegia caused by mutation in DDHD1 autosomal recessive spastic paraplegia 28 autosomal recessive spastic paraplegia type 28 hereditary spastic paraplegia 28 hereditary spastic paraplegia type 28 spastic paraplegia 28, autosomal recessive hereditary spastic paraplegia 28 MONDO:0012257 CEREBRORENODIGITAL syndrome with limb malformations and triradiate acetabula Cerebrorenodigital syndrome MONDO:0012258 A basal subtype of epidermolysis bullosa simplex (EBS) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. https://github.com/monarch-initiative/mondo/issues/4499 https://github.com/monarch-initiative/mondo/issues/4521 EBS-migr epidermolysis bullosa simplex 2E, with migratory circinate erythema epidermolysis bullosa simplex with migratory circinate erythema epidermolysis bullosa simplex 2E, with migratory circinate erythema MONDO:0012259 Colloid cysts of the third ventricle are non-cancerous brain lesions. The third ventricle is a cavity in the brain that is filled with cerebral spinal fluid (CSF). Colloid cysts can cause blockages resulting in a build up of CSF in the brain (hydrocephalus) and increased pressure. Some colloid cysts are asymptomatic while others cause neurological symptoms, such as headaches, swelling of the optic nerve (papilledema), and drop attacks. When symptoms are present onset tends to be in the third to sixth decade of life. While uncommon, symptoms of colloid cyst can become life threatening. colloid cysts of third ventricle neuroepithelial cysts of third ventricle colloid cysts of third ventricle https://rarediseases.info.nih.gov/diseases/9878/colloid-cysts-of-third-ventricle MONDO:0012260 A cataract that has material basis in variation in the region 19q13. CATCN1 CTRCT35 autosomal recessive congenital nuclear cataract 1 cataract 35 cataract 35, congenital nuclear cataract type 35 cataract, congenital nuclear, autosomal recessive 1 cataract 35 MONDO:0012261 https://github.com/monarch-initiative/mondo/issues/4521 AUTS6 autism susceptibility 6 autism, susceptibility to, 6 autism, susceptibility to, 6 MONDO:0012262 https://github.com/monarch-initiative/mondo/issues/4069 CFEOM3C Feom4 locus fibrosis of extraocular muscles, congenital, 3C fibrosis of extraocular muscles, congenital, 3c MONDO:0012263 AIS4 autoimmune disease, susceptibility to, 4 autoimmune disease susceptibility locus, chromosome 4-related vitiligo-associated multiple autoimmune disease susceptibility 5 autoimmune disease, susceptibility to, 4 MONDO:0012264 PEE2 PREECLAMPSIA/eclampsia 2 preeclampsia/eclampsia 2 MONDO:0012265 PEE3 PREECLAMPSIA/eclampsia 3 preeclampsia/eclampsia 3 MONDO:0012266 Any preeclampsia in which the cause of the disease is a mutation in the STOX1 gene. Preeclampsia/eclampsia type 4 STOX1 preeclampsia preeclampsia caused by mutation in STOX1 preeclampsia/eclampsia 4 PEE4 PREECLAMPSIA/eclampsia 4 preeclampsia/eclampsia 4 MONDO:0012267 A holoprosencephaly that has material basis in variation in the chromosome region 14q13. HPE8 holoprosencephaly 8 holoprosencephaly type 8 holoprosencephaly 8 MONDO:0012268 A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin lymphoma and Kaposi sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood. AIDS AIDS, acquired immunodeficiency syndrome acquired immune deficiency acquired immunodeficiency disease acquired immunodeficiency syndrome, AIDS acquired immune deficiency syndrome acquired immunodeficiency syndrome AIDS MONDO:0012269 3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features. https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/4521 3q subtelomere deletion syndrome 3q29 microdeletion syndrome 3qter deletion Del(3)(q29) chromosome 3q29 microdeletion syndrome, isolated cases monosomy 3q29 monosomy 3qter 3q29 deletion 3q29 deletion syndrome chromosome 3q29 deletion syndrome microdeletion 3Q29 syndrome chromosome 3q29 microdeletion syndrome MONDO:0012270 Tukel syndrome Cfeom-U congenital extraocular muscle fibrosis with ulnar hand anomalies fibrosis of extraocular muscles, congenital, 4 fibrosis of extraocular muscles, congenital, with ulnar hand anomalies Tukel syndrome MONDO:0012271 Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly. https://github.com/monarch-initiative/mondo/issues/4948 MSSD syndactyly type 9 syndactyly, Malik-Percin type syndactyly Malik-Percin type syndactyly mesoaxial synostotic with phalangeal reduction syndactyly, mesoaxial synostotic, with phalangeal reduction syndactyly, type 9 mesoaxial synostotic syndactyly with phalangeal reduction MONDO:0012272 intellectual disability, keratoconus, febrile seizures, and sinoatrial block mental retardation, keratoconus, febrile seizures, and sinoatrial block intellectual disability, keratoconus, febrile seizures, and sinoatrial block https://rarediseases.info.nih.gov/diseases/10064/mental-retardation-keratoconus-febrile-seizures-and-sinoatrial-block MONDO:0012273 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CIB2 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 CIB2 autosomal recessive nonsyndromic deafness DFNB48 autosomal recessive deafness 48 autosomal recessive nonsyndromic deafness 48 autosomal recessive nonsyndromic deafness caused by mutation in CIB2 autosomal recessive nonsyndromic deafness type 48 deafness, autosomal recessive 48 deafness, autosomal recessive type 48 autosomal recessive nonsyndromic hearing loss 48 MONDO:0012274 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 AMDD acromesomelic dysplasia 3 acromesomelic dysplasia, Demirhan type chondrodysplasia, acromesomelic, with or without genital anomalies chondrodysplasia acromesomelic with genital anomalies acromesomelic dysplasia 3 https://rarediseases.info.nih.gov/diseases/10077/chondrodysplasia-acromesomelic-with-genital-anomalies MONDO:0012275 Fetal valproate syndrome (FVS), is an anticonvulsant drug-related embryofetopathy that can occur when a fetus is exposed to valproic acid (VPA), characterized by distinct facial dysmorphism, congenital anomalies and developmental delay (especially in language and communication). fetal valproate syndrome fetal valproic acid syndrome FVS susceptibility to valproate embryopathy valproate embryopathy, susceptibility to valproic acid embryopathy fetal valproate syndrome https://rarediseases.info.nih.gov/diseases/5447/fetal-valproate-syndrome MONDO:0012276 Generalized epilepsy-paroxysmal dyskinesia syndrome is characterised by the association of paroxysmal dyskinesia and generalised epilepsy (usually absence or generalised tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant. GEPD PNKD3 epilepsy, generalized, with paroxysmal dyskinesia generalized epilepsy and paroxysmal dyskinesia paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy generalized epilepsy-paroxysmal dyskinesia syndrome MONDO:0012277 Late-onset distal myopathy, Markesbery-Griggs type is a rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases. LDB3 myofibrillar myopathy (disease) ZASP-related myofibrillar myopathy myofibrillar myopathy (disease) caused by mutation in LDB3 myofibrillar myopathy type 4 myopathy, myofibrillar, type 4 zaspopathy MFM4 late-onset distal myopathy, Markesbery-Griggs type myopathy, myofibrillar, 4 myofibrillar myopathy 4 MONDO:0012278 PSNP2 supranuclear palsy, progressive, 2 supranuclear palsy, progressive, 2 MONDO:0012279 The congenital muscle dystrophies are currently classified according to the genetic defects. Historically, congenital muscular dystrophies were classified in two broad groups: Classic CMD (which included the Merosin-deficient CMD and the Merosin-positive CMD) and the CMD with central nervous system (CNS) abnormalities (Fukuyama CMD, muscle-eye-brain disease and Walker-Warburg syndrome). Therefore, merosin-positive congenital muscle dystrophy (CMD) is now considered an old term which refers to a group of diseases without structural brain abnormalities that are caused by a variety of gene mutations, resulting in protein defects that do not affect the merosin protein. Itusually has a milder phenotype than the merosin-negative CMD dystrophy group and includes, among others: Classic CMD without distinguishing features Rigid spine syndrome associated with mutations in the selenoprotein N1 gene (SEPN1) CMD with hyperextensible distal joints (Ullrich type) CMD with intellectual disability or sensory abnormalities. The pattern of muscle weakness and wasting in the patients within this group of congenital muscular dystrophy conditions is worse in the proximal upper limb-girdle and trunk muscles. Lower limb muscles may be mildly involved. Muscle biopsy shows a dystrophic pattern with normal staining for dystrophin, laminin alpha-2 of merosin and the sarcoglycans. muscular dystrophy, congenital, merosin-POSITIVE congenital muscular dystrophy merosin-positive https://rarediseases.info.nih.gov/diseases/3855/muscular-dystrophy-congenital-merosin-positive MONDO:0012280 Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability. https://github.com/monarch-initiative/mondo/issues/5588 GOSHS Goldberg-Shprintzen megacolon syndrome megacolon-microcephaly syndrome Goldberg-Shprintzen syndrome Goldberg-Shprintzen megacolon syndrome MONDO:0012282 An autosomal recessive syndrome characterized by joint contractures, skeletal abnormalities, anterior segment anomalies of the eye and early lethality. Al-Gazali syndrome Al Gazali Al Talabani syndrome Al Gazali syndrome eye defects arachnodactyly cardiopathy Al-Gazali syndrome https://rarediseases.info.nih.gov/diseases/10054/al-gazali-syndrome MONDO:0012283 cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss https://rarediseases.info.nih.gov/diseases/10063/cleft-palate-midfacial-hypoplasia-triangular-facies-and-sensorineural-hearing-loss MONDO:0012284 nephropathy, progressive, with deafness Alport/focal segmental glomerulosclerosis-like syndrome Nede nephropathy, progressive, with deafness MONDO:0012285 LVNC2 left ventricular noncompaction 2 left ventricular noncompaction 2 MONDO:0012286 myopathy, autophagic vacuolar, infantile-onset myopathy, autophagic vacuolar, infantile-onset MONDO:0012287 Stickler syndrome, type i, nonsyndromic ocular Stickler syndrome, atypical Stickler syndrome, type I, predominantly ocular rhegmatogenous retinal detachment, autosomal dominant Editor note: check this Stickler syndrome, type I, nonsyndromic ocular MONDO:0012288 iridogoniodysgenesis and skeletal anomalies iridogoniodysgenesis and skeletal anomalies https://rarediseases.info.nih.gov/diseases/10058/iridogoniodysgenesis-and-skeletal-anomalies MONDO:0012289 Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases. FLNC myofibrillar myopathy (disease) filaminopathy myofibrillar myopathy (disease) caused by mutation in FLNC myofibrillar myopathy 5 myofibrillar myopathy type 5 myopathy, myofibrillar, type 5 MFM5 filaminopathy, autosomal dominant muscle filaminopathy myopathy, myofibrillar, 5 myopathy, myofibrillar, filamin C-related myofibrillar myopathy 5 MONDO:0012290 CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. https://github.com/monarch-initiative/mondo/issues/5588 CEDNIK syndrome cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome CEDNIK syndrome MONDO:0012291 Any selective IgA deficiency disease in which the cause of the disease is a mutation in the TNFRSF13B gene. Immunoglobulin a deficiency type 2 TNFRSF13B selective IgA deficiency disease immunoglobulin a deficiency 2 selective IgA deficiency disease caused by mutation in TNFRSF13B IGAD2 IMMUNOGLOBULIN A deficiency 2 IgA, selective deficiency of, TACI related IgA, selective deficiency of, TACI-related Immunoglobulin A, selective deficiency of, TACI related Immunoglobulin A, selective deficiency of, TACI-related immunoglobulin A deficiency 2 https://rarediseases.info.nih.gov/diseases/10198/immunoglobulin-a-deficiency-2 MONDO:0012292 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 hepatitis C virus, response to therapy of hepatitis C virus, susceptibility to HCV, resistance to HCV, susceptibility to Hepatitis C Virus infection, response to therapy of Hepatitis C Virus, resistance to hepatitis C virus, susceptibility to MONDO:0012293 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PCDH15 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB23 PCDH15 autosomal recessive nonsyndromic deafness autosomal recessive deafness 23 autosomal recessive nonsyndromic deafness 23 autosomal recessive nonsyndromic deafness caused by mutation in PCDH15 autosomal recessive nonsyndromic deafness type 23 deafness, autosomal recessive 23 deafness, autosomal recessive type 23 autosomal recessive nonsyndromic hearing loss 23 MONDO:0012295 A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the fifth complement component, C5. C5 deficiency may also be acquired acutely post-infection. If C5 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the second decade of life and are consistent with the signs of recurrent systemic infection. Deficiency of serum C5 and its major cleavage product, C5b, a component of the membrane attack complex, increases susceptibility to Neisserial infections. C5 complement deficiency C5 deficiency complement component 5 deficiency complement deficiency caused by mutation in C5 C5D dysfunction of the fifth component of complement (C5) complement component 5 deficiency MONDO:0012296 Lipomyelomeningocele is a rare neural tube closure defect characterized by a subcutaneous lipoma that extends through a defect in the lumbodorsal fascia, vertebral neural arch, and dura. This painless lesion can occur anywhere along the spinal canal but usually is found in the sacral or lumbar region. If left untreated it can cause tethered cord syndrome. lipomyelomeningocele familial lipomyelomeningocele lipomyelomeningocele https://rarediseases.info.nih.gov/diseases/10053/lipomyelomeningocele MONDO:0012297 A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2. SPOAN spastic paraplegia, optic atropy, and neuropathy spastic paraplegia, optic atropy, and neuropathy syndrome spastic paraplegia, optic atrophy, and neuropathy spastic paraplegia-optic atrophy-neuropathy syndrome SPOAN syndrome MONDO:0012298 omphalocele, diaphragmatic hernia, and radial ray defects Gershoni-Baruch syndrome omphalocele, diaphragmatic hernia, and radial ray defects MONDO:0012299 Any nanophthalmia in which the cause of the disease is a mutation in the MFRP gene. MFRP nanophthalmia nanophthalmia caused by mutation in MFRP nanophthalmos 2 nanophthalmos type 2 NNO2 Nanophthalmia 2 nanophthalmos, autosomal recessive nanophthalmos 2 MONDO:0012300 https://github.com/monarch-initiative/mondo/issues/4521 prostate cancer, hereditary, 6 prostate cancer, hereditary, type 6 HPC6 prostate cancer, susceptibility to prostate cancer, hereditary, 6 MONDO:0012301 Myopathic mitochondrial DNA (mtDNA) depletion syndrome is one of the main forms of mtDNA depletion syndrome that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive. mitochondrial DNA depletion syndrome type 2 mtDNA depletion syndrome, myopathic form MTDPS2 mitochondrial DNA depletion myopathy, Tk2-related mitochondrial DNA depletion syndrome 2 mitochondrial DNA depletion syndrome 2 (myopathic type) mitochondrial DNA depletion syndrome, myopathic form MONDO:0012302 PFM3 parietal foramina 3 parietal foramina 3 MONDO:0012303 https://github.com/monarch-initiative/mondo/issues/4521 migraine with or without aura, susceptibility to, 8 migraine with or without aura, susceptibility to, type 8 migraine, susceptibility to, 8 Mgr8 migraine with or without aura, susceptibility to, 8 MONDO:0012304 PPR2 photoparoxysmal response 2 photoparoxysmal response with or without idiopathic generalized epilepsy photoparoxysmal response 2 MONDO:0012305 PPR3 photoparoxysmal response 3 photoparoxysmal response with or without myoclonic epilepsy photoparoxysmal response 3 MONDO:0012306 cardiomyopathy, familial restrictive, 2 RCM2 cardiomyopathy, familial restrictive, 2 MONDO:0012307 Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome scaphocephaly, maxillary retrusion, and intellectual disability scaphocephaly, maxillary retrusion, and mental retardation familial scaphocephaly syndrome, McGillivray type MONDO:0012308 A rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy. JBTS4 JS-R Joubert syndrome type 4 Joubert syndrome 4 Joubert syndrome with renal anomalies Joubert syndrome with renal defect https://rarediseases.info.nih.gov/diseases/10169/joubert-syndrome-with-renal-anomalies MONDO:0012309 Any parietal foramina in which the cause of the disease is a mutation in the ALX4 gene. ALX4 parietal foramina parietal foramina 2 parietal foramina caused by mutation in ALX4 parietal foramina type 2 PFM2 parietal foramina 2 MONDO:0012310 fibrosis of extraocular muscles, congenital, with synergistic divergence congenital fibrosis syndrome with synergistic divergence external ophthalmoplegia with synergistic divergence external ophthalmoplegia, synergistic divergence, jaw winking, and oculocutaneous hypopigmentation fibrosis of extraocular muscles, congenital, with synergistic divergence MONDO:0012311 spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness MONDO:0012312 Any short QT syndrome in which the cause of the disease is a mutation in the KCNH2 gene. KCNH2 short QT syndrome SQTS short QT syndrome caused by mutation in KCNH2 short QT syndrome type 1 SQT1 short QT syndrome 1 short QT syndrome type 1 MONDO:0012313 Any short QT syndrome in which the cause of the disease is a mutation in the KCNQ1 gene. KCNQ1 short QT syndrome short QT syndrome caused by mutation in KCNQ1 short QT syndrome type 2 SQT2 short QT syndrome 2 short QT syndrome type 2 MONDO:0012314 Any short QT syndrome in which the cause of the disease is a mutation in the KCNJ2 gene. KCNJ2 short QT syndrome short QT syndrome caused by mutation in KCNJ2 short QT syndrome type 3 SQT3 short QT syndrome 3 short QT syndrome type 3 MONDO:0012315 Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay. https://github.com/monarch-initiative/mondo/issues/3664 chromosome 10q26 deletion syndrome distal deletion 10q distal monosomy 10q distal monosomy type 10q monosomy 10qter telomeric deletion 10q terminal chromosome 10q26 deletion syndrome 10q deletion 10q monosomy chromosome 10q deletion deletion 10q monosomy 10q partial monosomy 10q terminal chromosome 10Q26 deletion syndrome distal 10q deletion syndrome MONDO:0012316 Majeed syndrome is a rare genetic multisystemic disorder characterized by the triad of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and variable transient inflammatory dermatosis. https://github.com/monarch-initiative/mondo/issues/4948 Majeed syndrome chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome CDA and CRMO MAJEED syndrome MJDS chronic recurrent multifocal osteomyelitis, congenital chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic Anemia, and neutrophilic dermatosis congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis dyserythropoietic anemia, and neutrophilic dermatosis Majeed syndrome https://rarediseases.info.nih.gov/diseases/10088/majeed-syndrome MONDO:0012317 visceral neuropathy, familial, autosomal dominant enteric neuropathy, familial pseudoobstruction, chronic intestinal, neuropathic pseudoobstruction, idiopathic intestinal visceral neuropathy, familial, 3, autosomal dominant MONDO:0012318 leukemia, chronic lymphocytic, susceptibility to, 1 leukemia, chronic lymphocytic, susceptibility to, type 1 Clls1 leukemia, chronic lymphocytic, susceptibility to, 1 MONDO:0012319 https://github.com/monarch-initiative/mondo/issues/4521 MAFD3 major affective disorder 3 major affective disorder 3, early onset MAJOR affective disorder 3 bipolar affective disorder, early-onset major affective disorder 3 MONDO:0012320 Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the SCN1A gene. SCN1A familial or sporadic hemiplegic migraine familial or sporadic hemiplegic migraine caused by mutation in SCN1A migraine, familial hemiplegic, 3 migraine, familial hemiplegic, type 3 FHM3 migraine, familial hemiplegic, 3 MONDO:0012321 An Alzheimer's disease that is characterized by an associated with variation in the region 7q36. https://github.com/monarch-initiative/mondo/issues/4521 AD10 Alzheimer disease 10 Alzheimer disease familial 10 Alzheimer disease type 10 Alzheimer disease-10 Alzheimer's disease 10 Alzheimer's disease type 10 Ad10 Alzheimer disease, familial, 10 Alzheimer disease 10 MONDO:0012322 Holoprosencephaly associated with mutations in the ZIC2 gene. HPE5 ZIC2 holoprosencephaly holoprosencephaly 5 holoprosencephaly caused by mutation in ZIC2 holoprosencephaly type 5 holoprosencephaly 5 MONDO:0012323 Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized oozing erosions, usually in the absence of blisters. LAEB lethal acantholytic epidermolysis bullosa EBLA epidermolysis bullosa, lethal acantholytic lethal acantholytic epidermolysis bullosa https://rarediseases.info.nih.gov/diseases/9910/epidermolysis-bullosa-lethal-acantholytic MONDO:0012324 A rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression. https://github.com/monarch-initiative/mondo/issues/3664 14q22-q23 microdeletion syndrome 14q22q23 microdeletion syndrome Del(14)(q22q23) Frias syndrome monosomy 14q22-q23 monosomy 14q22q23 Growth deficiency, Facial anomalies, and brachydactyly chromosome 14Q22 deletion syndrome Frias syndrome MONDO:0012325 Nguyen syndrome MCA/MR syndrome with hypocholesterolemia due to familial hypobetalipoproteinemia MCA/Mr with hypocholesterolemia due to familial hypobetalipoproteinemia Nguyen syndrome https://rarediseases.info.nih.gov/diseases/9754/nguyen-syndrome MONDO:0012326 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ILDR1 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB42 ILDR1 autosomal recessive nonsyndromic deafness autosomal recessive deafness 42 autosomal recessive nonsyndromic deafness 42 autosomal recessive nonsyndromic deafness caused by mutation in ILDR1 autosomal recessive nonsyndromic deafness type 42 deafness, autosomal recessive 42 deafness, autosomal recessive type 42 autosomal recessive nonsyndromic hearing loss 42 MONDO:0012327 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 18p11.32-p11.31. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB46 autosomal recessive deafness 46 autosomal recessive nonsyndromic deafness 46 autosomal recessive nonsyndromic deafness type 46 deafness, autosomal recessive 46 autosomal recessive nonsyndromic hearing loss 46 MONDO:0012328 Pilar cyst TRICY1 Tricholemmal cyst trichilemmal cyst 1 trichilemmal cyst MONDO:0012329 short stature and Facioauriculothoracic malformations short stature and Facioauriculothoracic malformations MONDO:0012330 Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis, described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E), in the absence of renal disease. Autosomal recessive inheritance has been suggested. singh-Williams-McAlister syndrome talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals talo-patello-scaphoid osteolysis MONDO:0012331 migraine with aura, susceptibility to, 9 migraine with aura, susceptibility to, type 9 Mgr9 migraine with aura, susceptibility to, 9 MONDO:0012333 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 COL11A2 autosomal recessive nonsyndromic deafness DFNB53 autosomal recessive deafness 53 autosomal recessive nonsyndromic deafness 53 autosomal recessive nonsyndromic deafness caused by mutation in COL11A2 autosomal recessive nonsyndromic deafness type 53 deafness, autosomal recessive 53 deafness, autosomal recessive type 53 autosomal recessive nonsyndromic hearing loss 53 MONDO:0012334 Autosomal dominant spastic paraplegia type 29 (SPG29) is a complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia. SPG29 autosomal dominant spastic paraplegia 29 hereditary spastic paraplegia type 29 autosomal dominant spastic paraplegia type 29 spastic paraplegia 29 spastic paraplegia 29, autosomal dominant hereditary spastic paraplegia 29 MONDO:0012335 Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin. https://github.com/monarch-initiative/mondo/issues/4521 POMC deficiency obesity, adrenal insufficiency, and red hair due to POMC deficiency OBAIRH PROOPIOMELANOCORTIN deficiency obesity, early-onset, adrenal insufficiency, and Red hair obesity, early-onset, with adrenal insufficiency and RED hair obesity, early-onset, with adrenal insufficiency and Red hair obesity due to pro-opiomelanocortin deficiency MONDO:0012336 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB3 gene. https://github.com/monarch-initiative/mondo/issues/4521 CRYBB3 early-onset non-syndromic cataract CTRCT22 cataract 22 early-onset non-syndromic cataract caused by mutation in CRYBB3 CATCN2 autosomal recessive congenital nuclear cataract 2 cataract 22, multiple types cataract, congenital nuclear, autosomal recessive 2 cataract 22 multiple types MONDO:0012338 https://github.com/monarch-initiative/mondo/issues/2543 https://github.com/monarch-initiative/mondo/issues/4521 EIG4 epilepsy, idiopathic generalized, susceptibility to 4 epilepsy, idiopathic generalized, susceptibility to, 4 epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10 epilepsy, idiopathic generalized, susceptibility to, 4 MONDO:0012339 Any celiac disease in which the cause of the disease is a mutation in the MYO9B gene. MYO9B celiac disease celiac disease caused by mutation in MYO9B celiac disease, susceptibility to, 4 celiac disease, susceptibility to, type 4 CELIAC4 gluten-sensitive enteropathy, susceptibility to, 4 susceptibility to celiac disease 4 celiac disease, susceptibility to, 4 MONDO:0012340 https://github.com/monarch-initiative/mondo/issues/4882 CELIAC2 celiac disease, susceptibility to, 2 gluten-sensitive enteropathy, susceptibility to, 2 celiac disease, susceptibility to, 2 MONDO:0012341 Any celiac disease in which the cause of the disease is a mutation in the CTLA4 gene. CTLA4 celiac disease celiac disease caused by mutation in CTLA4 celiac disease, susceptibility to, 3 celiac disease, susceptibility to, type 3 CELIAC3 gluten-sensitive enteropathy, susceptibility to, 3 susceptibility to celiac disease 3 celiac disease, susceptibility to, 3 MONDO:0012342 7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short piltrum, thin upper lip and facial asymmetry). hypotonia, developmental coordination disordes, behavioural problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported. https://github.com/monarch-initiative/mondo/issues/3492 dup(7)(q11.23) trisomy 7q11.23 7q11.23 duplication syndrome Somerville-Van Der Aa syndrome Wbs Duplication syndrome Wbs triplication syndrome Williams-Beuren region DUPLICATION syndrome chromosome 7Q11.23 Duplication syndrome chromosome 7Q11.23 triplication syndrome 7q11.23 microduplication syndrome MONDO:0012343 https://github.com/monarch-initiative/mondo/issues/4521 AAA2 aortic aneurysm, familial abdominal 2 aortic aneurysm, familial abdominal, 2 aortic aneurysm, familial abdominal, 2 MONDO:0012344 An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1. https://github.com/monarch-initiative/mondo/issues/4521 AD11 Alzheimer disease 11 Alzheimer disease type 11 Alzheimer disease-11 Alzheimer's disease 11 Alzheimer's disease type 11 Ad11 Alzheimer disease, familial, 11 Alzheimer disease 11 MONDO:0012345 Acral peeling skin syndrome (PSS) is a form of PSS characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet. acral PSS acral deciduous skin acral peeling skin syndrome localized PSS localized deciduous skin peeling skin syndrome type 2 PSS2 peeling skin syndrome 2 peeling skin syndrome, acral type acral peeling skin syndrome https://rarediseases.info.nih.gov/diseases/12863/acral-peeling-skin-syndrome MONDO:0012346 GEFSP4 generalized epilepsy with febrile seizures plus, type 4 Gefs+, type 4 generalized epilepsy with febrile seizures plus, type 4 MONDO:0012347 https://github.com/monarch-initiative/mondo/issues/4069 hamartoma, Precalcaneal congenital fibrolipomatous Pcfh hamartoma, Precalcaneal congenital fibrolipomatous MONDO:0012348 Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the CEL gene. https://github.com/monarch-initiative/mondo/issues/4521 CEL maturity-onset diabetes of the young (disease) MODY type 8 MODY8 diabetes and pancreatic exocrine maturity-onset diabetes of the young (disease) caused by mutation in CEL maturity-onset diabetes of the young type 8 with exocrine dysfunction maturity-onset diabetes of the young, type VIII DPED diabetes and pancreatic exocrine dysfunction diabetes mellitus MODY type 8 diabetes-pancreatic exocrine dysfunction syndrome maturity-onset diabetes of the young, type 8 maturity-onset diabetes of the young, type 8, with exocrine dysfunction type 8 maturity-onset diabetes of the young maturity-onset diabetes of the young type 8 https://rarediseases.info.nih.gov/diseases/10662/maturity-onset-diabetes-of-the-young-type-8 MONDO:0012349 Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the LFNG gene. https://github.com/monarch-initiative/mondo/issues/4948 LFNG autosomal recessive spondylocostal dysostosis autosomal recessive spondylocostal dysostosis caused by mutation in LFNG spondylocostal dysostosis 3, autosomal recessive SCDO3 SCOD3 spondylocostal dysostosis 3 spondylocostal dysostosis 3, autosomal recessive MONDO:0012350 complement factor H deficiency CFHD Cfh deficiency factor H deficiency complement factor H deficiency MONDO:0012351 SD1, Weidenreich type SD1a Zygodactyly, Weidenreich type syndactyly type 1, Weidenreich type syndactyly type 1a zygodactyly type 1 ZYGODACTYLY 1 Zd1 zygodactyly type 1 MONDO:0012352 vasculitis, lymphocytic, cutaneous small vessel vasculitis, lymphocytic, cutaneous small vessel MONDO:0012353 Any familial polycythemia in which the cause of the disease is a mutation in the EGLN1 gene. EGLN1 familial polycythemia erythrocytosis, familial, 3 erythrocytosis, familial, type 3 familial polycythemia caused by mutation in EGLN1 ECYT3 erythrocytosis, familial, 3 MONDO:0012354 P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate. ADP platelet receptor P2Y12 defect P2Y12 defect platelet-type bleeding disorder 8 BDPLT8 bleeding disorder due to P2Rx1 defect, somatic bleeding disorder due to P2Ry12 defect bleeding disorder, platelet-type 8 bleeding disorder, platelet-type, 8 platelet-type bleeding disorder 8 MONDO:0012355 An autosomal recessive disorder caused by mutations in the TRIOBP gene, encoding TRIO and F-actin-binding protein. The condition is characterized by severe to profound sensorineural hearing loss. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB28 TRIOBP autosomal recessive nonsyndromic deafness autosomal recessive deafness 28 autosomal recessive nonsyndromic deafness 28 autosomal recessive nonsyndromic deafness caused by mutation in TRIOBP autosomal recessive nonsyndromic deafness type 28 deafness, autosomal recessive 28 deafness, autosomal recessive type 28 autosomal recessive nonsyndromic hearing loss 28 MONDO:0012358 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 LPRS1 leprosy, paucibacillary type, susceptibility to leprosy, susceptibility to, 1 leprosy, Paucibacillary type, susceptibility to, 1 leprosy, susceptibility to, 1 MONDO:0012359 A form of combined T and B cell immunodeficiency (CID) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia. CID due to partial RAG1 deficiency CID with expansion of gamma delta T cells combined immunodeficiency with expansion of gamma delta T cells alpha/beta T-cell lymphopenia with gamma/DELTA T-cell expansion, severe CYTOMEGALOVIRUS infection, and autoimmunity combined immunodeficiency due to partial RAG1 deficiency MONDO:0012360 A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has material basis in variation in the chromosome region 15q25.3-q26.1. CHNG3 congenital nongoitrous hypothyroidism 3 hypothyroidism, congenital, nongoitrous, 3 resistance to thyrotropin thyrotropin resistance congenital nongoitrous hypothryoidism 3 MONDO:0012361 SLEB5 systemic lupus erythematosus, susceptibility to, 5 systemic lupus erythematosus, susceptibility to, 5 MONDO:0012362 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PLN gene. CMD1P PLN familial isolated dilated cardiomyopathy cardiomyopathy, dilated, 1P cardiomyopathy, dilated, type 1P dilated cardiomyopathy type 1P familial isolated dilated cardiomyopathy caused by mutation in PLN dilated cardiomyopathy 1P MONDO:0012363 A retinitis pigmentosa that has material basis in variation in the chromosome region 1p21.3-p13.3. RP32 retinitis pigmentosa 32 retinitis pigmentosa type 32 retinitis pigmentosa 32 https://rarediseases.info.nih.gov/diseases/10395/retinitis-pigmentosa-32 MONDO:0012364 A dilated cardiomyopathy that has material basis in variation in the chromosome region 7q22.3-q31.1. CMD1Q dilated cardiomyopathy type 1Q cardiomyopathy, dilated, 1Q dilated cardiomyopathy 1Q MONDO:0012365 GBD2 gallbladder disease 2 gallbladder disease 2 MONDO:0012366 GBD3 gallbladder disease 3 gallbladder disease 3 MONDO:0012367 Any retinitis pigmentosa in which the cause of the disease is a mutation in the TOPORS gene. RP31 TOPORS retinitis pigmentosa retinitis pigmentosa 31 retinitis pigmentosa caused by mutation in TOPORS retinitis pigmentosa type 31 RP 31 retinitis pigmentosa 31 https://rarediseases.info.nih.gov/diseases/10396/retinitis-pigmentosa-31 MONDO:0012368 Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms. https://github.com/monarch-initiative/mondo/issues/4985 ACY1D N-acyl-L-amino acid amidohydrolase deficiency aminoacylase 1 deficiency neurological conditions associated with aminoacylase 1 deficiency ACY1 deficiency deficiency of the aminoacylase-1 enzyme aminoacylase 1 deficiency https://rarediseases.info.nih.gov/diseases/9741/aminoacylase-1-deficiency MONDO:0012369 SLEB6 systemic lupus erythematosus, susceptibility to, 6 systemic lupus erythematosus, susceptibility to, 6 MONDO:0012370 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11p13-p12. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB51 autosomal recessive deafness 51 autosomal recessive nonsyndromic deafness 51 autosomal recessive nonsyndromic deafness type 51 deafness, autosomal recessive 51 autosomal recessive nonsyndromic hearing loss 51 MONDO:0012371 Any Noonan syndrome in which the cause of the disease is a mutation in the KRAS gene. KRAS Noonan syndrome KRAS gene related Noonan syndrome NS3 Noonan syndrome 3 Noonan syndrome caused by mutation in KRAS Noonan syndrome type 3 Noonan syndrome 3 https://rarediseases.info.nih.gov/diseases/9885/noonan-syndrome-3 MONDO:0012373 ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features https://rarediseases.info.nih.gov/diseases/9939/ectodermal-dysplasia-sensorineural-hearing-loss-and-distinctive-facial-features MONDO:0012374 brachyphalangy, polydactyly, and tibial aplasia/hypoplasia brachyphalangy, polydactyly and absent tibiae brachyphalangy, polydactyly, and tibial aplasia/hypoplasia https://rarediseases.info.nih.gov/diseases/9893/brachyphalangy-polydactyly-and-tibial-aplasiahypoplasia MONDO:0012375 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2p25.1-p24.3. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 deafness, neurosensory, autosomal recessive 47 DFNB47 autosomal recessive deafness 47 autosomal recessive nonsyndromic deafness 47 autosomal recessive nonsyndromic deafness type 47 deafness, autosomal recessive 47 autosomal recessive nonsyndromic hearing loss 47 MONDO:0012376 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.2. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB55 autosomal recessive deafness 55 autosomal recessive nonsyndromic deafness 55 autosomal recessive nonsyndromic deafness type 55 deafness, autosomal recessive 55 autosomal recessive nonsyndromic hearing loss 55 MONDO:0012377 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 ASPG4 Asperger syndrome susceptibility 4 ASPERGER syndrome, susceptibility to, 4 asperger syndrome, susceptibility to, 4 MONDO:0012378 GINGF3 fibromatosis, gingival, 3 GGF3 HGF3 fibromatosis gingival, hereditary, 3 fibromatosis, gingival, hereditary, 3 gingival fibromatosis, 3 hereditary gingival fibromatosis, 3 fibromatosis, gingival, 3 MONDO:0012379 asthma-related traits, susceptibility to, 3 asthma-related traits, susceptibility to, type 3 ASRT3 asthma-related traits, susceptibility to, 3 MONDO:0012380 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 14q11.2-q12. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA53 autosomal dominant deafness 53 autosomal dominant nonsyndromic deafness 53 autosomal dominant nonsyndromic deafness type 53 deafness, autosomal dominant 53 deafness, autosomal dominant nonsyndromic sensorineural 53 autosomal dominant nonsyndromic hearing loss 53 MONDO:0012381 Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset. hyperinsulinemic hypoglycemia due to INSR deficiency hyperinsulinemic hypoglycemia due to insulin receptor deficiency hyperinsulinemic hypoglycemia, familial, type 5 HHF5 hyperinsulinemic hypoglycemia, familial, 5 hyperinsulinism due to INSR deficiency MONDO:0012382 Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the HADH gene. https://github.com/monarch-initiative/mondo/issues/3977 HADH hyperinsulinemic hypoglycemia (disease) hyperinsulinemic hypoglycemia (disease) caused by mutation in HADH hyperinsulinemic hypoglycemia due to HADH deficiency hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency hyperinsulinemic hypoglycemia, familial, 4 hyperinsulinemic hypoglycemia, familial, type 4 hyperinsulinism due to SCHAD deficiency hyperinsulinism due to glutamodehydrogenase deficiency hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency 3-Alpha-hydroxyacyl-Coenzyme A dehydrogenase deficiency 3-alpha hydroxyacyl-CoA dehydrogenase deficiency 3-hydroxyacyl-CoA dehydrogenase deficiency 3-hydroxyacyl-Coenzyme A dehydrogenase deficiency 3-hydroxylacyl-CoA dehydrogenase deficiency HADH deficiency HADHSC deficiency HHF4 L-3-Alpha-hydroxyacyl-CoA dehydrogenase, short chain, deficiency M-SCHAD deficiency M/SCHAD SCHAD deficiency SCHAD deficiency, formerly had deficiency medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency hyperinsulinemic hypoglycemia, familial, 4 https://rarediseases.info.nih.gov/diseases/9870/3-alpha-hydroxyacyl-coa-dehydrogenase-deficiency MONDO:0012383 The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterised by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localised to within a 12-Mb region on chromosome 8p11.23-q11.21. mini-chromosome maintenance 4 primary immunodeficiency due to MCM4 deficiency IMD54 NKGCD immunodeficiency 54 natural KILLER cell and glucocorticoid deficiency with DNA repair defect natural Killer cell deficiency, familial isolated primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency MONDO:0012384 panic disorder 3 panic disorder type 3 Pand3 panic disorder susceptibility locus, chromosome 4Q-related panic disorder 3 MONDO:0012385 metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands cupped metaphyses and cone-Shaped epiphyses without alopecia or brachydactyly metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands https://rarediseases.info.nih.gov/diseases/9942/metaphyseal-chondrodysplasia-with-cone-shaped-epiphyses-normal-hair-and-normal-hands MONDO:0012386 Trichoscyphodysplasia cupped metaphyses and cone-Shaped epiphyses with alopecia metaphyseal chondrodysplasia with cone-Shaped epiphyses and alopecia metaphyseal chondrodysplasia with ectodermal dysplasia trichoscyphodysplasia https://rarediseases.info.nih.gov/diseases/9861/trichoscyphodysplasia MONDO:0012387 This syndrome is characterised by sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals. sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome osteosclerosis with ichthyosis and POF osteosclerosis with ichthyosis and premature ovarian failure sclerosing dysplasia of bone with ichthyosis and premature ovarian failure osteosclerosis-ichthyosis-premature ovarian failure syndrome MONDO:0012388 https://github.com/monarch-initiative/mondo/issues/4521 MYP11 myopia 11 myopia 11, autosomal dominant myopia 11, autosomal dominant MONDO:0012389 https://github.com/monarch-initiative/mondo/issues/4521 MYP12 myopia 12 myopia 12, autosomal dominant myopia 12, autosomal dominant MONDO:0012390 arthrogryposis multiplex with deafness, inguinal hernias, and early death arthrogryposis multiplex with deafness, inguinal hernias, and early death https://rarediseases.info.nih.gov/diseases/9946/arthrogryposis-multiplex-with-deafness-inguinal-hernias-and-early-death MONDO:0012391 Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision. CLN8 disease, Northern epilepsy variant EPMR NCL, Northern epilepsy variant Northern epilepsy neuronal ceroid lipofuscinosis, Northern epilepsy variant northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant progressive epilepsy with intellectual disability, northern epilepsy progressive epilepsy with mental retardation, northern epilepsy progressive epilepsy-intellectual disability syndrome, Finnish type CLN8 CLN8 disease, EPMR (subtype) CLN8 disease, late infantile (subtype) ceroid lipofuscinosis neuronal 8 ceroid lipofuscinosis, neuronal, 8, NORTHERN epilepsy variant epilepsy mental deterioration Finnish type epilepsy, progressive, with intellectual disability epilepsy, progressive, with mental retardation neuronal ceroid lipofuscinosis 8 progressive epilepsy - intellectual disability, Finnish type neuronal ceroid lipofuscinosis 8 northern epilepsy variant https://rarediseases.info.nih.gov/diseases/2163/epilepsy-mental-deterioration-finnish-type https://rarediseases.info.nih.gov/diseases/4010/northern-epilepsy MONDO:0012392 A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4985 2-methylbutyric aciduria 2-methylbutyryl-CoA dehydrogenase deficiency 2-methylbutyrylglycinuria SBCAD deficiency butyryl-CoA dehydrogenase deficiency developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency short/branched-chain acyl-coA dehydrogenase deficiency 2-methylbutyryl Glycinuria short branched-chain acyl-CoA dehydrogenase deficiency short/branched-chain acyl-Coa dehydrogenase deficiency 2-methylbutyryl-CoA dehydrogenase deficiency https://rarediseases.info.nih.gov/diseases/10322/2-methylbutyryl-coa-dehydrogenase-deficiency MONDO:0012393 https://github.com/monarch-initiative/mondo/issues/4069 congenital brain dysgenesis due to glutamine synthetase deficiency inherited GS deficiency inherited glutamine synthetase deficiency congenital glutamine deficiency glutamine deficiency, congenital glutamine synthase deficiency, congenital systemic glutamine synthetase deficiency, congenital systemic congenital brain dysgenesis due to glutamine synthetase deficiency MONDO:0012394 Any multiple synostoses syndrome in which the cause of the disease is a mutation in the GDF5 gene. https://github.com/monarch-initiative/mondo/issues/4948 GDF5 multiple synostoses syndrome multiple synostoses syndrome 2 multiple synostoses syndrome caused by mutation in GDF5 multiple synostoses syndrome type 2 SYNS2 multiple synostoses syndrome 2 https://rarediseases.info.nih.gov/diseases/9916/multiple-synostoses-syndrome-2 MONDO:0012395 Any cataract in which the cause of the disease is a mutation in the FYCO1 gene. https://github.com/monarch-initiative/mondo/issues/4521 CATC2 CTRCT18 FYCO1 cataract (disease) autosomal recessive congenital cataract 2 cataract (disease) caused by mutation in FYCO1 cataract 18 cataract 18 autosomal recessive cataract 18, autosomal recessive cataract type 18 cataract, autosomal recessive congenital 2 cataract 18 MONDO:0012396 Exercise-induced hyperinsulinism (EIHI) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells. EIHI MCT1 hyperinsulinism exercise-induced hyperinsulinemic hypoglycemia hyperinsulinemic hypoglycemia, familial, type 7 hyperinsulinism due to SLC16A1 deficiency hyperinsulinism due to monocarboxylate transporter 1 deficiency monocarboxylate transporter 1 hyperinsulinism HHF7 exercise induced hyperinsulinemic hypoglycemia hyperinsulinemic hypoglycemia exercise-induced hyperinsulinemic hypoglycemia familial 7 hyperinsulinemic hypoglycemia, exercise-induced hyperinsulinemic hypoglycemia, familial, 7 exercise-induced hyperinsulinism MONDO:0012397 brachydactyly, coloboma, and anterior segment dysgenesis brachydactyly, coloboma, and anterior segment dysgenesis MONDO:0012398 https://github.com/monarch-initiative/mondo/issues/4521 retinal cone dystrophy 3 retinal cone dystrophy 3A retinal cone dystrophy type 3A RCD3A achromatopsia 6 cone dystrophy with night blindness and supernormal Rod responses, Pde6H-related cone dystrophy with night blindness and supernormal rod responses PDE6H-related Editor note: TODO logical defs for achromatopsias retinal cone dystrophy 3A https://rarediseases.info.nih.gov/diseases/10648/retinal-cone-dystrophy-3a MONDO:0012399 Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2B gene. https://github.com/monarch-initiative/mondo/issues/5588 CDCBM7 TUBB2B complex cortical dysplasia with other brain malformations complex cortical dysplasia with other brain malformations caused by mutation in TUBB2B complex cortical dysplasia with other brain malformations type 7 polymicrogyria due to TUBB2B mutation PMGYSA cortical dysplasia, COMPLEX, with OTHER brain malformations 7 cortical dysplasia, Complex, with Other brain malformations 7 polymicrogyria, symmetric or asymmetric complex cortical dysplasia with other brain malformations 7 MONDO:0012400 An autosomal recessive condition caused by mutation(s) in the CNTNAP2 gene, encoding contactin-associated protein-like 2. It is characterized by normal development until the onset of intractable focal seizures at age 1-9. After the onset of seizures, language regression, intellectual disability, hyperactivity, and impulsive behaviors begin to occur. The majority of children eventually fulfill the criteria for autism spectrum disorder. https://github.com/monarch-initiative/mondo/issues/4521 CDFE syndrome CDFES Pitt-Hopkins like syndrome 1 cortical dysplasia-focal epilepsy syndrome PTHSL1 Pitt-Hopkins-like syndrome 1 cortical dysplasia-focal epilepsy syndrome MONDO:0012401 Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss. https://github.com/monarch-initiative/mondo/issues/4069 CSCD Witschel dystrophy congenital hereditary stromal dystrophy congenital stromal corneal dystrophy corneal dystrophy, congenital stromal congenital stromal corneal dystrophy MONDO:0012402 https://github.com/monarch-initiative/mondo/issues/4882 opioid dependence, susceptibility to, 1 opioid dependence, susceptibility to, type 1 Ods1 opioid dependence, susceptibility to, 1 MONDO:0012403 SLEB7 systemic lupus erythematosus, susceptibility to, 7 systemic lupus erythematosus, susceptibility to, 7 MONDO:0012404 SLEB8 systemic lupus erythematosus, susceptibility to, 8 systemic lupus erythematosus, susceptibility to, 8 MONDO:0012405 Any hereditary mixed polyposis syndrome in which the cause of the disease is a mutation in the BMPR1A gene. BMPR1A hereditary mixed polyposis syndrome hereditary mixed polyposis syndrome caused by mutation in BMPR1A polyposis syndrome, hereditary mixed, 2 polyposis syndrome, hereditary mixed, type 2 HMPS2 polyposis syndrome, hereditary mixed, 2 MONDO:0012406 https://github.com/monarch-initiative/mondo/issues/4948 HRPT3 hyperparathyroidism 3 hyperparathyroidism, familial isolated hyperparathyroidism 3 MONDO:0012407 Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate. PNPO deficiency PNPO-related neonatal epileptic encephalopathy pyridoxal phosphate-dependent seizures pyridoxamine 5'-oxidase deficiency pyridoxamine 5'-phosphate oxidase deficiency pyridoxine 5' phosphate oxidase deficiency PNPOD Pnpo deficiency epileptic encephalopathy, neonatal, Pnpo-related pyridoxal 5'-phosphate-dependent epilepsy pyridoxamine 5-prime-phosphate oxidase deficiency pyridoxine-5'-phosphate oxidase deficiency seizures, pyridoxine-resistant, PLP-sensitive pyridoxal phosphate-responsive seizures MONDO:0012408 Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the VSX2 gene. https://github.com/monarch-initiative/mondo/issues/4521 VSX2 microphthalmia, isolated, with coloboma microphthalmia with coloboma 3 microphthalmia, isolated, with coloboma 3 microphthalmia, isolated, with coloboma caused by mutation in VSX2 microphthalmia, isolated, with coloboma type 3 MCOPCB3 microphthalmia, cataracts, and iris abnormalities microphthalmia, colobomatous, isolated 3 microphthalmia, isolated, with coloboma 3 MONDO:0012409 Any isolated microphthalmia in which the cause of the disease is a mutation in the VSX2 gene. MCOP2 VSX2 isolated microphthalmia isolated microphthalmia caused by mutation in VSX2 isolated microphthalmia type 2 microphthalmia, isolated type 2 anophthalmia, clinical, isolated microphthalmia, isolated 2 isolated microphthalmia 2 MONDO:0012410 Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common. MPD3 distal myopathy type 3 myopathy, distal, 3 Finnish upper limb-onset distal myopathy MONDO:0012411 Any giant axonal neuropathy in which the cause of the disease is a mutation in the DCAF8 gene. CMT2 with giant axons DCAF8 giant axonal neuropathy HMSN2 with giant axons autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons giant axonal neuropathy caused by mutation in DCAF8 giant axonal neuropathy type 2 GAN2 autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons giant axonal neuropathy 2, autosomal dominant giant axonal neuropathy 2 MONDO:0012412 Any classic complement early component deficiency in which the cause of the disease is a mutation in the C7 gene. C7 classic complement early component deficiency classic complement early component deficiency caused by mutation in C7 complement component 7 deficiency C7 deficiency C7D complement component 7 deficiency MONDO:0012413 Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations. MCOPS5 OTX2 syndromic microphthalmia microphthalmia, syndromic type 5 syndromic microphthalmia caused by mutation in OTX2 syndromic microphthalmia type 5 syndromic microphthalmia/anophthalmia due to OTX2 mutation OTX2-related eye disorders microphthalmia syndromic 5 microphthalmia, syndromic 5 retinal dystrophy, early-onset, with or without pituitary dysfunction syndromic microphthalmia type 5 MONDO:0012414 A rare condition that affects the nervous system. Signs and symptoms of the condition can develop any time from birth to adulthood and may include progressive dementia, seizures, lack of muscle coordination, and vision loss. CLN10-NCL is caused by changes (mutations) in the CTSD gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms. CLN10 CLN10-NCL CTSD neuronal ceroid lipofuscinosis Cathepsin D deficiency ceroid lipofuscinosis, neuronal, type 10 neuronal ceroid lipofuscinosis cathepsin D-deficient neuronal ceroid lipofuscinosis caused by mutation in CTSD neuronal ceroid lipofuscinosis due to cathepsin D deficiency neuronal ceroid lipofuscinosis type 10 CLN10 disease CLN10 disease, adult (subtype) CLN10 disease, congenital (subtype) CLN10 disease, juvenile (subtype) CLN10 disease, late infantile (subtype) ceroid lipofuscinosis neuronal Cathepsin D-deficient ceroid lipofuscinosis, neuronal, 10 ceroid lipofuscinosis, neuronal, Cathepsin D-deficient neuronal ceroid lipofuscinosis due to Cathepsin D deficiency neuronal ceroid lipofuscinosis, congenital neuronal ceroid lipofuscinosis 10 https://rarediseases.info.nih.gov/diseases/1218/neuronal-ceroid-lipofuscinosis-10 MONDO:0012415 Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the POLG2 gene. POLG2 progressive external ophthalmoplegia with mitochondrial DNA deletions progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in POLG2 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 4 PEOA4 progressive external ophthalmoplegia, autosomal dominant 4 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 MONDO:0012416 Devriendt syndrome severe short stature, hyperphalangy of the index fingers, intellectual disability and facial dysmorphism severe short stature, hyperphalangy of the index fingers, mental retardation and facial dysmorphism Devriendt syndrome https://rarediseases.info.nih.gov/diseases/10052/devriendt-syndrome MONDO:0012417 A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases. Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome atriodigital dysplasia, Slovenian type heart-hand syndrome, Slovenian type heart-hand syndrome, Slovenian type https://rarediseases.info.nih.gov/diseases/9846/heart-hand-syndrome-slovenian-type MONDO:0012418 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 12p13.2-p11.23. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB62 autosomal recessive deafness 62 autosomal recessive nonsyndromic deafness 62 autosomal recessive nonsyndromic deafness type 62 deafness, autosomal recessive 62 autosomal recessive nonsyndromic hearing loss 62 MONDO:0012419 Any age-related macular degeneration in which the cause of the disease is a mutation in the HTRA1 gene. https://github.com/monarch-initiative/mondo/issues/4521 ARMD7 HTRA1 age-related macular degeneration age related macular degeneration type 7 age-related macular degeneration caused by mutation in HTRA1 macular Degeneration, age-related, type 7 macular degeneration, age-related, neovascular type macular Degeneration, age-related, neovascular type, susceptibility to macular Degeneration, age-related, wet type, susceptibility to macular degeneration, age-related, 7 age related macular degeneration 7 MONDO:0012420 An autosomal recessive disorder caused by mutations in the MARVELD2 gene, encoding MARVEL domain-containing protein 2. The condition is characterized by profound prelingual deafness. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB49 MARVELD2 autosomal recessive nonsyndromic deafness autosomal recessive deafness 49 autosomal recessive nonsyndromic deafness 49 autosomal recessive nonsyndromic deafness caused by mutation in MARVELD2 autosomal recessive nonsyndromic deafness type 49 deafness, autosomal recessive 49 deafness, autosomal recessive type 49 autosomal recessive nonsyndromic hearing loss 49 MONDO:0012421 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ADCY1 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 ADCY1 autosomal recessive nonsyndromic deafness DFNB44 autosomal recessive deafness 44 autosomal recessive nonsyndromic deafness 44 autosomal recessive nonsyndromic deafness caused by mutation in ADCY1 autosomal recessive nonsyndromic deafness type 44 deafness, autosomal recessive 44 deafness, autosomal recessive type 44 autosomal recessive nonsyndromic hearing loss 44 MONDO:0012422 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 2q24.3. https://github.com/monarch-initiative/mondo/issues/5033 IDDM19 insulin-dependent diabetes mellitus 19 diabetes mellitus, insulin-dependent, 19 type 1 diabetes mellitus 19 MONDO:0012423 MORM syndrome is characterised by the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34. https://github.com/monarch-initiative/mondo/issues/4521 MORM syndrome intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome mental retardation, truncal obesity, retinal dystrophy, and micropenis mental retardation-truncal obesity-retinal dystrophy-micropenis syndrome MORMS intellectual disability, truncal obesity, retinal dystrophy and micropenis intellectual disability, truncal obesity, retinal dystrophy, and micropenis syndrome mental retardation, truncal obesity, retinal dystrophy and micropenis mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome MORM syndrome https://rarediseases.info.nih.gov/diseases/10121/morm-syndrome MONDO:0012425 FECD2 Fcd1 locus corneal dystrophy, Fuchs endothelial, 2 corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, 2 MONDO:0012426 Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD247 gene. CD247 severe combined immunodeficiency (disease) CD3zeta deficiency immunodeficiency 25 immunodeficiency type 25 severe combined immunodeficiency (disease) caused by mutation in CD247 IMD25 immunodeficiency due to defect in CD3-zeta immunodeficiency 25 MONDO:0012427 A rare autosomal dominant inherited disorder of connective tissue caused by mutations in either the TGFBR1 or TGFBR2 gene. Like Loeys-Dietz syndrome type I the disease is characterized by enlargement of the aorta and other arteries, and arterial tortuosity, but skeletal signs are typically less severe or absent in type 2. Skin abnormalities, such as velvety skin are often present in type 2. https://github.com/monarch-initiative/mondo/issues/4948 Loeys-Dietz syndrome 2 Loeys-Dietz syndrome caused by mutation in TGFBR2 Loeys-Dietz syndrome type 2 Loeys-Dietz syndrome type II TGFBR2 Loeys-Dietz syndrome LDS2 Marfan syndrome, type II Marfan syndrome, type II, formerly aortic aneurysm, familial thoracic 3 Loeys-Dietz syndrome 2 MONDO:0012428 KYPSC1 kyphoscoliosis 1 kyphoscoliosis 1 MONDO:0012429 Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2B gene. Aicardi-Goutieres syndrome 2 Aicardi-Goutieres syndrome caused by mutation in RNASEH2B Aicardi-Goutieres syndrome type 2 RNASEH2B Aicardi-Goutieres syndrome AGS2 RNASEH2B-related Aicardi-Goutieres syndrome Aicardi-Goutieres syndrome 2 MONDO:0012430 Any dysequilibrium syndrome in which the cause of the disease is a mutation in the WDR81 gene. WDR81 dysequilibrium syndrome cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 2 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 2 dysequilibrium syndrome caused by mutation in WDR81 CAMRQ2 cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 2 cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 MONDO:0012431 Any congenital diaphragmatic hernia in which the cause of the disease is a mutation in the ZFPM2 gene. ZFPM2 congenital diaphragmatic hernia congenital diaphragmatic hernia caused by mutation in ZFPM2 diaphragmatic hernia 3 diaphragmatic hernia type 3 DIH3 diaphragmatic hernia 3 MONDO:0012432 Any Joubert syndrome in which the cause of the disease is a mutation in the CEP290 gene. CEP290 Joubert syndrome JBTS5 Joubert syndrome 5 Joubert syndrome caused by mutation in CEP290 Joubert syndrome type 5 Joubert syndrome 5 MONDO:0012433 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the CEP290 gene. CEP290 Senior-Loken syndrome Senior-Loken syndrome 6 Senior-Loken syndrome caused by mutation in CEP290 Senior-Loken syndrome type 6 SENIOR-Loken syndrome 6 SLSN6 Senior-Loken syndrome 6 MONDO:0012434 Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene. ARVC10 ARVD10 DSG2 arrhythmogenic right ventricular cardiomyopathy arrhythmogenic right ventricular cardiomyopathy 10 arrhythmogenic right ventricular cardiomyopathy caused by mutation in DSG2 arrhythmogenic right ventricular dysplasia 10 arrhythmogenic right ventricular dysplasia type 10 arrhythmogenic right ventricular dysplasia, familial, type 10 familial arrhythmogenic right ventricular dysplasia 10 arrhythmogenic right ventricular dysplasia, familial, 10 arrhythmogenic right ventricular dysplasia 10 MONDO:0012435 A syndrome characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria. 3-methylglutaconic aciduria caused by mutation in DNAJC19 3-methylglutaconic aciduria type 5 3-methylglutaconic aciduria type V DCMA DCMA syndrome DNAJC19 3-methylglutaconic aciduria MGA5 MGCA5 dilated cardiomyopathy with ataxia 3 alpha methylglutaconic aciduria type V 3 methylglutaconic aciduria type V 3-METHYLGLUTACONIC aciduria, type V 3-Methylglutaconic aciduria, type 5 MGA 5 MGA V Mga, type 5 cardiomyopathy, dilated, with ataxia 3-methylglutaconic aciduria type 5 https://rarediseases.info.nih.gov/diseases/10344/3-methylglutaconic-aciduria-type-v MONDO:0012436 A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others https://github.com/monarch-initiative/mondo/issues/4069 NDH syndrome neonatal diabetes mellitus with congenital hypothyroidism NDH Ndh syndrome diabetes mellitus, neonatal, with congenital hypothyroidism neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome neonatal diabetes mellitus with congenital hypothyroidism MONDO:0012437 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the MAF gene. CTRCT21 MAF early-onset non-syndromic cataract cataract 21 multiple types with or without microcornea early-onset non-syndromic cataract caused by mutation in MAF CCA4 congenital cataract cerulean type 4 cataract 21, multiple types cataract 21, multiple types, with or without microcornea cataract, congenital, cerulean type, 4 cataract, pulverulent, juvenile-onset cataract 21 multiple types MONDO:0012438 Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5. PCH5 fetal-onset olivopontocerebellar hypoplasia olivopontocerebellar hypoplasia fetal-onset olivopontocerebellar hypoplasia, fetal-onset pontocerebellar hypoplasia, type 5 pontocerebellar hypoplasia type 5 https://rarediseases.info.nih.gov/diseases/10709/pontocerebellar-hypoplasia-type-5 MONDO:0012439 Alagille syndrome due to a NOTCH2 point mutation Alagille syndrome type 2 Alagille-Watson syndrome due to a NOTCH2 point mutation Arteriohepatic dysplasia due to a NOTCH2 point mutation syndromic bile duct paucity due to a NOTCH2 point mutation ALGS2 Alagille syndrome 2 Alagille syndrome due to a NOTCH2 point mutation MONDO:0012440 migraine with or without aura, susceptibility to, 10 migraine with or without aura, susceptibility to, type 10 Mgr10 migraine with pulsation migraine with or without aura, susceptibility to, 10 MONDO:0012441 migraine with or without aura, susceptibility to, 11 migraine with or without aura, susceptibility to, type 11 Mgr11 migraine with or without aura, susceptibility to, 11 MONDO:0012442 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the DCDC2 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DCDC2 autosomal recessive nonsyndromic deafness DFNB66 autosomal recessive deafness 66 autosomal recessive nonsyndromic deafness 66 autosomal recessive nonsyndromic deafness caused by mutation in DCDC2 autosomal recessive nonsyndromic deafness type 66 deafness, autosomal recessive 66 deafness, autosomal recessive type 66 autosomal recessive nonsyndromic hearing loss 66 MONDO:0012443 ANIB4 aneurysm, intracranial BERRY, 4 aneurysm, intracranial berry, 4 MONDO:0012444 NBIA2b neuroaxonal dystrophy, atypical neurodegeneration with brain iron accumulation 2B neurodegeneration with brain iron accumulation type 2B neurodegeneration with brain iron accumulation type 2b neurodegeneration with brain iron accumulation, Pla2g6-related Karak syndrome NBIA2B atypical neuroaxonal dystrophy early-onset progressive cerebellar ataxia dystonia spasticity and intellectual decline neurodegeneration with brain iron accumulation, Pla2G6-related NBIA2A is caused by homozygous or compound heterozygous mutation in the PLA2G6 gene; See also NBIA2B (610217), an overlapping disorder with later onset. neurodegeneration with brain iron accumulation 2B MONDO:0012445 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PJVK gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB59 PJVK autosomal recessive nonsyndromic deafness autosomal recessive deafness 59 autosomal recessive nonsyndromic deafness 59 autosomal recessive nonsyndromic deafness caused by mutation in PJVK autosomal recessive nonsyndromic deafness type 59 deafness, autosomal recessive 59 deafness, autosomal recessive type 59 autosomal recessive nonsyndromic hearing loss 59 MONDO:0012446 seborrhea-like dermatitis with psoriasiform elements seborrhea-like dermatitis with psoriasiform elements MONDO:0012447 SD2, Malik type SD2c SPD, Malik type SPD3 synpolydactyly, Malik type synpolydactyly 3 synpolydactyly type 3 MONDO:0012448 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ZFYVE27 gene. SPG33 ZFYVE27 hereditary spastic paraplegia autosomal dominant spastic paraplegia 33 hereditary spastic paraplegia caused by mutation in ZFYVE27 hereditary spastic paraplegia type 33 spastic paraplegia 33, autosomal dominant hereditary spastic paraplegia 33 MONDO:0012449 Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia. SCA23 spinocerebellar ataxia type 23 spinocerebellar ataxia 23 spinocerebellar ataxia type 23 MONDO:0012450 Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration. SCA28 spinocerebellar ataxia type 28 spinocerebellar ataxia 28 spinocerebellar ataxia type 28 MONDO:0012451 EOE1 esophagitis, eosinophilic, 1 esophagitis, eosinophilic esophagitis, eosinophilic, 1 MONDO:0012452 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 20q13.2-q13.3. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB65 autosomal recessive deafness 65 autosomal recessive nonsyndromic deafness 65 autosomal recessive nonsyndromic deafness type 65 deafness, autosomal recessive 65 autosomal recessive nonsyndromic hearing loss 65 MONDO:0012453 A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense. REEP1 hereditary spastic paraplegia SPG31 autosomal dominant spastic paraplegia 31 autosomal dominant spastic paraplegia type 31 hereditary spastic paraplegia caused by mutation in REEP1 hereditary spastic paraplegia type 31 spastic paraplegia 31 spastic paraplegia 31, autosomal dominant hereditary spastic paraplegia 31 MONDO:0012454 Alcohol intolerance is characterized by immediate unpleasant reactions after drinking alcohol. The most common signs and symptoms of alcohol intolerance are stuffy nose and skin flushing. Alcohol intolerance is caused by a genetic condition in which the body is unable to break down alcohol efficiently, usually found in Asians. These individuals accumulate acetaldehyde, the primary metabolite of ethanol, because of a genetic polymorphism of aldehyde dehydrogenase (ALDH) that metabolizes acetaldehyde to nontoxic acetate. The only way to prevent alcohol intolerance reactions is to avoid alcohol. Alcohol intolerance isn't an allergy. However, in some cases, what seems to be alcohol intolerance may be a reaction to something in an alcoholic beverage, such as chemicals, grains or preservatives. Combining alcohol with certain medications also can cause reactions. In rare instances, an unpleasant reaction to alcohol can be a sign of a serious underlying health problem that requires diagnosis and treatment. alcohol sensitivity, acute Hangover, susceptibility to acute alcohol sensitivity alcohol intolerance alcohol sensitivity, acute https://rarediseases.info.nih.gov/diseases/12634/acute-alcohol-sensitivity MONDO:0012455 A genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features. https://github.com/monarch-initiative/mondo/issues/5588 9Q subtelomeric deletion syndrome 9Q- syndrome 9q-syndrome 9q34 deletion syndrome 9q34.3 microdeletion syndrome Kleefstra syndrome chromosome 9Q34.3 deletion syndrome chromosome 9q deletion syndrome Kleefstra syndrome https://rarediseases.info.nih.gov/diseases/8672/kleefstra-syndrome MONDO:0012456 Congenital primary aphakia (CPA) is characterised by an absence of the lens. The prevalence is unknown. CPA can be associated with variable secondary ocular defects (including aplasia/dysplasia of the anterior segment of the eye, microphthalmia, and in some cases absence of the iris, retinal dysplasia, or sclerocornea). CPA results from early developmental arrest, around the 4th-5th week of embryogenesis, which prevents the formation of any lens structure. Mutations in the FOXE3 gene were identified in three affected siblings born to consanguineous parents. https://github.com/monarch-initiative/mondo/issues/4521 anterior segment dysgenesis 2, multiple subtypes aphakia, congenital primary congenital absence of lens congenital aphakia ASGD2 CPA anterior segment dysgenesis 2 congenital primary aphakia MONDO:0012457 IHPS2 pyloric stenosis, infantile hypertrophic, 2 pyloric stenosis, infantile hypertrophic, 2 MONDO:0012458 https://github.com/monarch-initiative/mondo/issues/4882 hypertension, essential, susceptibility to, 5 hypertension, essential, susceptibility to, type 5 Hyt5 hypertension, essential, body Mass-related hypertension, essential, susceptibility to, 5 MONDO:0012459 https://github.com/monarch-initiative/mondo/issues/4882 hypertension, essential, susceptibility to, 6 hypertension, essential, susceptibility to, type 6 Hyt6 hypertension, essential, kidney function-related hypertension, essential, susceptibility to, 6 MONDO:0012460 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LHFPL5 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB67 LHFPL5 autosomal recessive nonsyndromic deafness autosomal recessive deafness 67 autosomal recessive nonsyndromic deafness 67 autosomal recessive nonsyndromic deafness caused by mutation in LHFPL5 autosomal recessive nonsyndromic deafness type 67 deafness, autosomal recessive 67 deafness, autosomal recessive type 67 autosomal recessive nonsyndromic hearing loss 67 MONDO:0012462 pachygyria, frontotemporal autosomal recessive frontotemporal pachygyria MONDO:0012463 Any retinitis pigmentosa in which the cause of the disease is a mutation in the SEMA4A gene. RP35 SEMA4A retinitis pigmentosa retinitis pigmentosa 35 retinitis pigmentosa caused by mutation in SEMA4A retinitis pigmentosa type 35 RP 35 retinitis pigmentosa 35 https://rarediseases.info.nih.gov/diseases/10402/retinitis-pigmentosa-35 MONDO:0012464 Any cone-rod dystrophy in which the cause of the disease is a mutation in the SEMA4A gene. CORD10 SEMA4A cone-rod dystrophy cone-rod dystrophy 10 cone-rod dystrophy caused by mutation in SEMA4A cone-rod dystrophy type 10 cone-rod dystrophy 10 MONDO:0012465 The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI. PIGM-CDG GPI deficiency GPID congenital disorder of glycosylation due to PIGM deficiency glycosylphosphatidylinositol biosynthesis defect 1 glycosylphosphatidylinositol deficiency hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency https://rarediseases.info.nih.gov/diseases/9965/hypercoagulability-syndrome-due-to-glycosylphosphatidylinositol-deficiency MONDO:0012466 Any young-onset Parkinson disease in which the cause of the disease is a mutation in the HTRA2 gene. https://github.com/monarch-initiative/mondo/issues/4521 HTRA2 young-onset Parkinson disease Parkinson disease 13 Parkinson disease 13, autosomal dominant, susceptibility to young-onset Parkinson disease caused by mutation in HTRA2 PARK13 susceptibility to autosomal dominant Parkinson disease 13 Parkinson disease 13, autosomal dominant, susceptibility to MONDO:0012467 Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the CLCF1 gene. CLCF1 cold-induced sweating syndrome cold-induced sweating syndrome 2 cold-induced sweating syndrome caused by mutation in CLCF1 cold-induced sweating syndrome type 2 CISS2 CRISPONI/cold-induced sweating syndrome 2 Crisponi/cold-induced sweating syndrome 2 cold-induced sweating syndrome 2 MONDO:0012468 rhizomelic dysplasia, scoliosis, and retinitis pigmentosa rhizomelic dysplasia, scoliosis, and retinitis pigmentosa https://rarediseases.info.nih.gov/diseases/9968/rhizomelic-dysplasia-scoliosis-and-retinitis-pigmentosa MONDO:0012469 MYP14 myopia 14 myopia 14 MONDO:0012470 HPC7 prostate cancer, hereditary, 7 prostate cancer aggressiveness prostate cancer, hereditary, 7 MONDO:0012471 Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2C gene. Aicardi-Goutieres syndrome 3 Aicardi-Goutieres syndrome caused by mutation in RNASEH2C Aicardi-Goutieres syndrome type 3 RNASEH2C Aicardi-Goutieres syndrome AGS3 RNASEH2C -related Aicardi-Goutieres syndrome Aicardi-Goutieres syndrome 3 MONDO:0012472 Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2A gene. Aicardi-Goutieres syndrome 4 Aicardi-Goutieres syndrome caused by mutation in RNASEH2A Aicardi-Goutieres syndrome type 4 RNASEH2A Aicardi-Goutieres syndrome AGS4 RNASEH2A-related Aicardi-Goutieres syndrome Aicardi-Goutieres syndrome 4 MONDO:0012473 right pulmonary artery, anomalous origin of, familial ARPA familial Arpa, familial anomalous origin of right pulmonary artery familial familial ARPA familial anomalous origin of right pulmonary artery right pulmonary artery, anomalous origin of, with ventricular septal defect, patent Foramen ovale, and patent ductus arteriosus right pulmonary artery, anomalous origin of, familial https://rarediseases.info.nih.gov/diseases/10146/anomalous-origin-of-right-pulmonary-artery-familial MONDO:0012474 Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA2 gene. CHRNA2 autosomal dominant nocturnal frontal lobe epilepsy ENFL4 autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNA2 autosomal dominant nocturnal frontal lobe epilepsy type 4 epilepsy, nocturnal frontal lobe, type 4 nocturnal frontal lobe epilepsy 4 convulsions, benign familial infantile, 6 epilepsy, familial, with nocturnal wandering and Ictal fear epilepsy, nocturnal frontal lobe, 4 seizures, benign familial infantile, 6 autosomal dominant nocturnal frontal lobe epilepsy 4 MONDO:0012475 Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation. cone dystrophy with supernormal rod ERG cone dystrophy with supernormal rod electroretinogram cone dystrophy with supernormal rod response cone dystrophy with supernormal scotopic electroretinogram retinal cone dystrophy type 3B RCD3B cone dystrophy with night blindness and supernormal Rod responses, Kcnv2-related cone dystrophy with night blindness and supernormal rod responses KCNV2 related cone dystrophy with supernormal Rod responses retinal cone dystrophy 3B cone dystrophy with supernormal rod response MONDO:0012476 Autosomal spastic paraplegia type 30 (SPG30) is a form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, usteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy. https://github.com/monarch-initiative/mondo/issues/4521 KIF1A hereditary spastic paraplegia SPG30 autosomal recessive spastic paraplegia 30 autosomal spastic paraplegia type 30 hereditary spastic paraplegia caused by mutation in KIF1A hereditary spastic paraplegia type 30 spastic paraplegia 30, autosomal dominant spastic paraplegia 30, autosomal recessive hereditary spastic paraplegia 30 MONDO:0012477 Any retinitis pigmentosa in which the cause of the disease is a mutation in the SNRNP200 gene. https://github.com/monarch-initiative/mondo/issues/4937 RP33 SNRNP200 retinitis pigmentosa retinitis pigmentosa 33 retinitis pigmentosa caused by mutation in SNRNP200 retinitis pigmentosa type 33 RP 33 retinitis pigmentosa 33 https://rarediseases.info.nih.gov/diseases/10400/retinitis-pigmentosa-33 MONDO:0012478 OFC9 orofacial cleft 9 cleft lip with or without cleft palate, nonsyndromic, 9 orofacial cleft 9 MONDO:0012479 Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells is an exceedingly rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration, and severe diarrhea unresponsive to various nutrients and formulas, and require home parenteral nutrition. Diabetes mellitus has also been reported. https://github.com/monarch-initiative/mondo/issues/4069 NEUROG3 congenital diarrhea congenital diarrhea caused by mutation in NEUROG3 congenital malabsorptive diarrhea due to paucity of enteroendocrine cells congenital malabsorptive diarrhea type 4 enteric anendocrinosis DIAR4 diarrhea 4, malabsorptive, congenital congenital malabsorptive diarrhea 4 MONDO:0012480 Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the ABCC8 gene. https://github.com/monarch-initiative/mondo/issues/4521 ABCC8 transient neonatal diabetes mellitus (disease) diabetes mellitus, transient neonatal 2 diabetes mellitus, transient neonatal, 2 diabetes mellitus, transient neonatal, type 2 transient neonatal diabetes mellitus (disease) caused by mutation in ABCC8 Tndm2 diabetes mellitus, transient neonatal, 2 MONDO:0012481 Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes. HIDS MKD MVA complete mevalonate kinase deficiency hyperimmunoglobulin D with periodic fever syndrome mevalonic aciduria MEVA Mevalonicaciduria mevalonic aciduria https://rarediseases.info.nih.gov/diseases/3588/mevalonic-aciduria MONDO:0012482 https://github.com/monarch-initiative/mondo/issues/4882 West Nile virus, susceptibility to WNV, susceptibility to West Nile virus, susceptibility to MONDO:0012483 Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAX2 gene. CORD11 RAX2 cone-rod dystrophy cone-rod dystrophy 11 cone-rod dystrophy caused by mutation in RAX2 cone-rod dystrophy type 11 cone-rod dystrophy 11 MONDO:0012484 An instance of prosopagnosia (disease) that is caused by an inherited modification of the individual's genome. hereditary prosopagnosia (disease) prosopagnosia, hereditary congenital prosopagnosia developmental prosopagnosia face blindness hereditary prosopagnosia prosopagnosia, congenital prosopagnosia, developmental prosopagnosia, hereditary MONDO:0012485 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the S1PR2 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB68 S1PR2 autosomal recessive nonsyndromic deafness autosomal recessive deafness 68 autosomal recessive nonsyndromic deafness 68 autosomal recessive nonsyndromic deafness caused by mutation in S1PR2 autosomal recessive nonsyndromic deafness type 68 deafness, autosomal recessive 68 autosomal recessive nonsyndromic hearing loss 68 MONDO:0012486 preauricular Tag, isolated, autosomal dominant, type 1 preauricular tag, isolated, autosomal dominant, 1 preauricular tag, isolated, autosomal dominant, 1 MONDO:0012487 alopecia-intellectual disability syndrome 2 alopecia-mental retardation syndrome 2 AMR syndrome 2 APMR2 alopecia intellectual disability syndrome 2 alopecia with mild to moderate intellectual deficit alopecia-intellectual disability syndrome 2 MONDO:0012488 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 hepatitis B virus infection, susceptibility to hepatitis b virus, susceptibility to HBV, resistance to HBV, susceptibility to Hepatitis B Virus, resistance to hepatitis B virus, susceptibility to MONDO:0012489 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA4 gene. CRYBA4 early-onset non-syndromic cataract CTRCT23 cataract 23 cataract type 23 early-onset non-syndromic cataract caused by mutation in CRYBA4 lamellar cataract 23 cataract 23, lamellar cataract 23, multiple types cataract 23, multiple types, with or without microcornea cataract 23 MONDO:0012490 https://github.com/monarch-initiative/mondo/issues/4069 cone-rod synaptic disorder, congenital nonprogressive CRSD night blindness, congenital stationary, incomplete, autosomal recessive night blindness, congenital stationary, incomplete, autosomal recessive, formerly night blindness, congenital stationary, type 2B night blindness, congenital stationary, type 2B, formerly cone-rod synaptic disorder, congenital nonprogressive MONDO:0012491 WM2 macroglobulinemia, WALDENSTROM, susceptibility to, 2 macroglobulinemia, Waldenstrom, 2 MONDO:0012492 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 RLS3 restless legs syndrome 3 restless legs syndrome, susceptibility to, 3 restless legs syndrome, susceptibility to, 3 MONDO:0012493 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 RLS4 restless legs syndrome 4 restless legs syndrome, susceptibility to, 4 RLS 4 restless legs syndrome, susceptibility to, 4 MONDO:0012494 testicular microlithiasis (disease) testicular microlithiasis testicular microlithiasis (disease) testicular microlithiasis MONDO:0012495 A rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5280 SEMD, Geneviève type SEMDG spondyloepimetaphyseal dysplasia, Camera-Genevieve type spondyloepimetaphyseal dysplasia, Genevieve type Nans deficiency SEMD Genevieve type SEMD, Genevieve type spondyloepimetaphyseal dysplasia Genevieve type spondyloepimetaphyseal dysplasia, Geneviève type spondyloepimetaphyseal dysplasia, Genevieve type MONDO:0012496 A chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior. KANSL1-related intellectual disability syndrome KdVS Koolen de Vries syndrome Koolen-De Vries syndrome chromosome 17q21.31 deletion syndrome microdeletion 17q21.31 syndrome 17q21.31 deletion syndrome KDVS Koolen-DE Vries syndrome chromosome 17Q21.31 deletion syndrome chromosome 17q21.31 microdeletion syndrome microdeletion 17Q21.31 syndrome Editor note: DOID classifies as non-syndromic but we classify as syndromic Koolen-de Vries syndrome MONDO:0012497 A congenital stationary night blindness characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the GNAT1 gene on chromosome 3p21. https://github.com/monarch-initiative/mondo/issues/4069 CSNBAD3 Nougaret type congenital stationary night blindness congenital stationary night blindness autosomal dominant type 3 night blindness, congenital stationary, autosomal dominant type 3 night blindness, congenital stationary, Nougaret type night blindness, congenital stationary, autosomal dominant 3 congenital stationary night blindness autosomal dominant 3 MONDO:0012498 Any congenital stationary night blindness in which the cause of the disease is a mutation in the RHO gene. https://github.com/monarch-initiative/mondo/issues/4069 CSNBAD1 RHO congenital stationary night blindness congenital stationary night blindness autosomal dominant type 1 congenital stationary night blindness caused by mutation in RHO night blindness, congenital stationary, autosomal dominant type 1 rhodopsin-related congenital stationary night blindness night blindness, congenital stationary, autosomal dominant 1 night blindness, congenital stationary, rhodopsin-related congenital stationary night blindness autosomal dominant 1 MONDO:0012499 https://github.com/monarch-initiative/mondo/issues/4882 Buruli ulcer, susceptibility to BUD Mycobacterium ulcerans, susceptibility to Buruli ulcer, susceptibility to MONDO:0012500 Any chilblain lupus in which the cause of the disease is a mutation in the TREX1 gene. https://github.com/monarch-initiative/mondo/issues/4521 chilblain lupus TREX1 chilblain lupus chilblain lupus 1 chilblain lupus caused by mutation in TREX1 chilblain lupus type 1 CHBL1 chilblain lupus 1 MONDO:0012502 https://github.com/monarch-initiative/mondo/issues/4521 normophosphatemic familial tumoral calcinosis tumoral calcinosis, familial, normophosphatemic NFTC calcinosis, tumoral, with Normophosphatemia familial normophosphatemic tumoral calcinosis tumoral calcinosis, normophosphatemic, familial normophosphatemic familial tumoral calcinosis https://rarediseases.info.nih.gov/diseases/10878/normophosphatemic-familial-tumoral-calcinosis MONDO:0012503 An inherited metabolic disease that is has its basis in the disruption of thiopurine S-methyltransferase activity. TPMT deficiency inborn error of thiopurine S-methyltransferase activity inborn thiopurine S-methyltransferase activity disorder poor metabolism of thiopurines-1 rare inborn error of thiopurine S-methyltransferase activity thiopurine S-methyltransferase deficiency 6-mercaptopurine sensitivity THPM1 Thiopurines, poor metabolism of Thiopurines, poor metabolism of, 1 thiopurine S methyltranferase deficiency thiopurine methyltransferase deficiency thiopurines, poor metabolism of, 1 thiopurine S-methyltransferase deficiency MONDO:0012504 Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth. https://github.com/monarch-initiative/mondo/issues/4948 CATSHL syndrome CATSHLS camptodactyly, tall stature, and hearing loss syndrome camptodactyly-tall stature-scoliosis-hearing loss syndrome MONDO:0012505 Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE11A gene. PDE11A primary pigmented nodular adrenocortical disease pigmented nodular adrenocortical disease, primary, 2 pigmented nodular adrenocortical disease, primary, type 2 primary pigmented nodular adrenocortical disease caused by mutation in PDE11A Cushing syndrome, adrenal, due to PPNAD2 PPNAD2 pigmented micronodular adrenocortical disease, primary, 2 pigmented nodular adrenocortical disease, primary, 2 MONDO:0012506 Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the DSC2 gene. https://github.com/monarch-initiative/mondo/issues/4521 ARVC11 ARVD11 DSC2 familial isolated arrhythmogenic right ventricular dysplasia arrhythmogenic right ventricular cardiomyopathy 11 arrhythmogenic right ventricular dysplasia 11 arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair arrhythmogenic right ventricular dysplasia type 11 arrhythmogenic right ventricular dysplasia, familial, type 11 familial arrhythmogenic right ventricular dysplasia 11 familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in DSC2 arrhythmogenic right ventricular dysplasia, familial, 11 arrhythmogenic right ventricular dysplasia, familial, 11, and mild palmoplantar keratoderma with or without woolly hair arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair arrhythmogenic right ventricular dysplasia 11 MONDO:0012507 Any cone dystrophy in which the cause of the disease is a mutation in the CACNA2D4 gene. CACNA2D4 cone dystrophy cone dystrophy caused by mutation in CACNA2D4 retinal cone dystrophy 4 retinal cone dystrophy type 4 RCD4 retinal cone dystrophy 4 https://rarediseases.info.nih.gov/diseases/10650/retinal-cone-dystrophy-4 MONDO:0012508 A syndrome that combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation. https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/5682 agammaglobulinemia, microcephaly, and severe dermatitis agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome MONDO:0012509 Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKAR1A gene. PRKAR1A primary pigmented nodular adrenocortical disease pigmented nodular adrenocortical disease, primary, 1 pigmented nodular adrenocortical disease, primary, type 1 primary pigmented nodular adrenocortical disease caused by mutation in PRKAR1A Cushing syndrome, adrenal, due to PPNAD1 PPNAD1 adrenocortical nodular dysplasia, primary pigmented micronodular adrenocortical disease, primary, 1 pigmented nodular adrenocortical disease, primary, 1 MONDO:0012510 Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined. COXPD2 MRPS16 combined oxidative phosphorylation deficiency combined oxidative phosphorylation deficiency caused by mutation in MRPS16 combined oxidative phosphorylation deficiency type 2 combined oxidative phosphorylation deficiency 2 corpus callosum, agenesis of, with Dysmorphism and fatal lactic acidosis combined oxidative phosphorylation defect type 2 MONDO:0012511 A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation. https://github.com/monarch-initiative/mondo/issues/4521 PPROM preterm premature rupture of the membranes preterm premature rupture of the membranes, susceptibility to preterm premature rupture of the membranes MONDO:0012512 Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy. TSFM combined oxidative phosphorylation deficiency combined oxidative phosphorylation deficiency caused by mutation in TSFM combined oxidative phosphorylation deficiency type 3 fatal mitochondrial disease due to COXPD3 COXPD3 combined oxidative phosphorylation deficiency 3 concentric cardiomyopathy, hypotonia, and lactic acidosis encephalomyopathy, respiratory failure, and lactic acidosis fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 MONDO:0012513 Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KLF11 gene. https://github.com/monarch-initiative/mondo/issues/4521 KLF11 maturity-onset diabetes of the young (disease) MODY7 maturity-onset diabetes of the young (disease) caused by mutation in KLF11 maturity-onset diabetes of the young, type VII MODY KLF11 related MODY type 7 diabetes mellitus MODY type 7 maturity-onset diabetes of the young, type 7 type 7 maturity-onset diabetes of the young maturity-onset diabetes of the young type 7 https://rarediseases.info.nih.gov/diseases/10661/maturity-onset-diabetes-of-the-young-type-7 MONDO:0012514 Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit. https://github.com/monarch-initiative/mondo/issues/5588 FAM126A leukodystrophy HLD5 hypomyelinating leukodystrophy type 5 hypomyelination-congenital cataract syndrome leukodystrophy caused by mutation in FAM126A leukodystrophy, hypomyelinating, type 5 hypomyelination - congenital cataract hypomyelination and congenital cataract hypomyelination and congenital cataract: HCC leukodystrophy, hypomyelinating, 5 hypomyelinating leukodystrophy 5 MONDO:0012515 GLC1M JOAG1M glaucoma 1, open angle, M glaucoma 1, open angle, M MONDO:0012516 Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability. https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5588 MFDM syndrome mandibulofacial dysostosis with microcephaly mandibulofacial dysostosis, Guion-Almeida type mandibulofacial dysostosis-microcephaly syndrome Growth and intellectual disability, mandibulofacial dysostosis, microcephaly, and cleft palate Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate Growth delay - intellectual disability - mandibulofacial dysostosis - microcephaly - cleft palate Growth delay-intellectual disability-mandibulofacial dysostosis-microcephaly-cleft palate syndrome MFDGA MFDM mandibulofacial dysostosis-microcephaly syndrome MONDO:0012517 Any Gaucher disease in which the cause of the disease is a mutation in the PSAP gene. Gaucher disease caused by mutation in PSAP PSAP Gaucher disease atypical Gaucher disease due to saposin C deficiency atypical Gaucher's disease due to saposin c deficiency Gaucher disease, atypical Gaucher disease, atypical, due to saposin C deficiency atypical Gaucher disease due to saposin C deficiency MONDO:0012518 Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the GFPT1 gene. https://github.com/monarch-initiative/mondo/issues/4521 CMS12 GFPT1 congenital myasthenic syndromes with glycosylation defect congenital myasthenia 12 with tubular aggregates congenital myasthenic syndrome type 12 congenital myasthenic syndromes with glycosylation defect caused by mutation in GFPT1 myasthenia, congenital, 12, with tubular aggregates myasthenic syndrome, congenital, type 12 myasthenic syndrome, congenital, 12 myasthenic syndrome, congenital, with tubular aggregates 1 congenital myasthenic syndrome 12 MONDO:0012519 Chromosome 16p13.3deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion. Treatment is based on the signs and symptoms present in each person.To learn more about chromosome abnormalities in general, view our GARD fact sheet on Chromosome Disorders. https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/4521 16p13.3 deletion syndrome Rsts deletion syndrome Rubinstein-Taybi deletion syndrome chromosome 16p13.3 deletion syndrome chromosome 16p13.3 deletion syndrome, proximal Rubinstein-Taybi syndrome due to 16p13.3 microdeletion https://rarediseases.info.nih.gov/diseases/10754/chromosome-16p133-deletion-syndrome MONDO:0012520 Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight. https://github.com/monarch-initiative/mondo/issues/5723 insulin resistant diabetes mellitus with acanthosis nigricans and hyperandrogenism type A insulin resistance syndrome Iran, type a diabetes mellitus, insulin-resistant, with acanthosis nigricans diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans insulin-resistant acanthosis nigricans, type A insulin-resistance syndrome type A MONDO:0012521 Herpes simplex virus encephalitis (HSE) is caused by the infection of the central nervous system by Herpes simplex virus (HSV) that could have a devastating clinical course and a potentially fatal outcome particularly with delay or lack of treatment. HSV often involves the frontal and temporal lobes, usually asymmetrically, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness. HSE HSV encephalitis HSVE Herpes simplex meningo-encephalitis Herpes simplex neuroinvasion Simplexvirus caused infectious encephalitis Simplexvirus infectious encephalitis herpetic encephalitis Herpes simplex virus encephalitis herpes simplex encephalitis https://rarediseases.info.nih.gov/diseases/6649/herpes-simplex-encephalitis MONDO:0012522 Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the KCNJ11 gene. https://github.com/monarch-initiative/mondo/issues/4521 KCNJ11 transient neonatal diabetes mellitus (disease) diabetes mellitus, transient neonatal 3 diabetes mellitus, transient neonatal, 3 diabetes mellitus, transient neonatal, type 3 transient neonatal diabetes mellitus (disease) caused by mutation in KCNJ11 Tndm3 diabetes mellitus, type II, autosomal dominant diabetes mellitus, transient neonatal, 3 MONDO:0012523 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRCD gene. PRCD retinitis pigmentosa RP36 retinitis pigmentosa 36 retinitis pigmentosa caused by mutation in PRCD retinitis pigmentosa type 36 RP 36 retinitis pigmentosa 36 https://rarediseases.info.nih.gov/diseases/10403/retinitis-pigmentosa-36 MONDO:0012524 https://github.com/monarch-initiative/mondo/issues/4521 hypoaldosteronism, congenital, due to CMO II deficiency 18-oxidase deficiency Cmo 2 deficiency aldosterone deficiency 2 aldosterone deficiency due to deficiency of steroid 18-oxidase corticosterone methyloxidase type II deficiency hyperreninemic hypoaldosteronism, familial, 1 steroid 18-oxidase deficiency corticosterone methyloxidase type 2 deficiency MONDO:0012525 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RD3 gene. https://github.com/monarch-initiative/mondo/issues/4069 LCA12 Leber congenital amaurosis 12 Leber congenital amaurosis caused by mutation in RD3 Leber congenital amaurosis type 12 RD3 Leber congenital amaurosis amaurosis congenita of Leber, type 12 Leber congenital amaurosis 12 https://rarediseases.info.nih.gov/diseases/10489/leber-congenital-amaurosis-12 MONDO:0012526 Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. https://github.com/monarch-initiative/mondo/issues/4521 F12 hereditary angioedema HAE 3 HAE-III angioedema, hereditary, 3 hereditary angioedema caused by mutation in F12 hereditary angioedema type 3 hereditary angioneurotic edema type 3 inherited estrogen-associated angioedema inherited estrogen-associated angioneurotic edema inherited estrogen-dependent angioedema inherited estrogen-dependent angioneurotic edema HAE3 Hae 3 Hae with normal C1 inhibitor concentration and function angioedema, hereditary, type 3 angioedema, hereditary, type III angioneurotic edema, hereditary, with normal C1 inhibitor concentration and function estrogen-related Hae estrogen-sensitive Hae hereditary angioedema with normal C1 inhibitor activity hereditary angioedema type 3 MONDO:0012527 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the PITX3 gene. https://github.com/monarch-initiative/mondo/issues/4521 CTRCT11 PITX3 early-onset non-syndromic cataract cataract 11, syndromic, autosomal recessive early-onset non-syndromic cataract caused by mutation in PITX3 CPP4 CTPP4 posterior polar cataract 4 Cpp4 Posterior polar cataract, 4 cataract 11 with microphthalmia and neurodevelopmental abnormalities cataract 11, multiple types cataract, posterior polar, 4 cataract 11 multiple types MONDO:0012528 Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROK2 gene. PROK2 hypogonadotropic hypogonadism hypogonadotropic hypogonadism 4 with or without anosmia hypogonadotropic hypogonadism caused by mutation in PROK2 KAL4 Kallman syndrome 4 HH4 Kallmann syndrome 4 hypogonadotropic hypogonadism 4 with or without anosmia https://rarediseases.info.nih.gov/diseases/10772/kallmann-syndrome-4 MONDO:0012529 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS24 gene. Diamond-Blackfan Anemia type 3 Diamond-Blackfan anemia 3 Diamond-Blackfan anemia caused by mutation in RPS24 RPS24 Diamond-Blackfan anemia DBA3 anemia Diamond-Blackfan 3 Diamond-Blackfan anemia 3 https://rarediseases.info.nih.gov/diseases/10241/diamond-blackfan-anemia-3 MONDO:0012530 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown. https://github.com/monarch-initiative/mondo/issues/4521 palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome palmoplantar hyperkeratosis and true hermaphroditism palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX SEX reversal palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome MONDO:0012531 Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC3 gene. https://github.com/monarch-initiative/mondo/issues/4521 ERCC3 xeroderma pigmentosum XP group B XP, Group B XP-B XPB XPBC xeroderma pigmentosum caused by mutation in ERCC3 xeroderma pigmentosum group B xeroderma pigmentosum group type B xeroderma pigmentosum, complementation group type B xeroderma pigmentosum, group B XPB/CS xeroderma pigmentosum B/Cockayne syndrome xeroderma pigmentosum, complementation group B xeroderma pigmentosum, type 2 xeroderma pigmentosum group B MONDO:0012532 HHT4 telangiectasia, hereditary hemorrhagic, type 4 hereditary hemorrhagic telangiectasia type 4 https://rarediseases.info.nih.gov/diseases/10615/hereditary-hemorrhagic-telangiectasia-type-4 MONDO:0012533 https://github.com/monarch-initiative/mondo/issues/4521 AUTS7 autism susceptibility 7 autism, susceptibility to, 7 autism, susceptibility to, 7 MONDO:0012534 Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy. COXPD4 TUFM combined oxidative phosphorylation deficiency combined oxidative phosphorylation defect type 4 combined oxidative phosphorylation deficiency caused by mutation in TUFM combined oxidative phosphorylation deficiency type 4 combined oxidative phosphorylation deficiency 4 combined oxidative phosphorylation defect type 4 MONDO:0012535 holoprosencephaly, recurrent infections, and monocytosis holoprosencephaly, recurrent infections, and monocytosis https://rarediseases.info.nih.gov/diseases/10055/holoprosencephaly-recurrent-infections-and-monocytosis MONDO:0012536 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the CRTAP gene. https://github.com/monarch-initiative/mondo/issues/4948 CRTAP osteogenesis imperfecta OI7 osteogenesis imperfecta caused by mutation in CRTAP osteogenesis imperfecta type 7 osteogenesis imperfecta type VII OI type 7 OI type VII OI, type 7 osteogenesis imperfecta, type 7 osteogenesis imperfecta, type IIb osteogenesis imperfecta, type IIb, formerly osteogenesis imperfecta, type VII osteogenesis imperfecta type 7 MONDO:0012537 SHFLD2 split-hand/foot malformation with long bone deficiency 2 split-hand/foot malformation with long bone deficiency 2 MONDO:0012538 Any nemaline myopathy in which the cause of the disease is a mutation in the CFL2 gene. CFL2 nemaline myopathy NEM7 nemaline myopathy 7 nemaline myopathy 7, autosomal recessive nemaline myopathy caused by mutation in CFL2 nemaline myopathy type 7 nemaline myopathy 7 MONDO:0012539 Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM67 gene. JBTS6 Joubert syndrome 6 Joubert syndrome caused by mutation in TMEM67 Joubert syndrome type 6 TMEM67 Joubert syndrome Joubert syndrome 6 MONDO:0012540 Any age-related macular degeneration in which the cause of the disease is a mutation in the CFH gene. ARMD4 CFH age-related macular degeneration age related macular degeneration type 4 age-related macular degeneration caused by mutation in CFH macular Degeneration, age-related, type 4 macular degeneration, age-related, 4 age related macular degeneration 4 MONDO:0012541 Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome. https://github.com/monarch-initiative/mondo/issues/4521 LAMM syndrome deafness with labyrinthine aplasia, microtia, and microdontia deafness, congenital with inner ear agenesis, microtia, and microdontia microdontia-type I microtia-deafness syndrome congenital deafness with inner ear agenesis microtia and microdontia deafness congenital with inner ear agenesis microtia and microdontia deafness with Lamm deafness with labyrinthine aplasia microtia and microdontia (LAMM) deafness, congenital, with inner EAR agenesis, microtia, and microdontia deafness, congenital, with labyrinthine aplasia, microtia, and microdontia deafness with labyrinthine aplasia, microtia, and microdontia MONDO:0012542 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 PSORS8 psoriasis 8, susceptibility to psoriasis susceptibility 8 psoriasis 8, susceptibility to MONDO:0012543 OPA5 optic atrophy 5 optic atrophy 5 MONDO:0012544 Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common. brachydactyly-syndactyly syndrome BDSD Bdsd brachydactyly-syndactyly, Zhao type brachydactyly-syndactyly-oligodactyly syndrome brachydactyly-syndactyly syndrome MONDO:0012545 NLSDM neutral lipid storage disease with myopathy without ichthyosis neutral lipid storage disease with myopathy neutral lipid storage disease without ichthyosis triglyceride deposit cardiomyovasculopathy neutral lipid storage myopathy MONDO:0012546 Any nephrotic syndrome in which the cause of the disease is a mutation in the PLCE1 gene. PLCE1 nephrotic syndrome nephrotic syndrome caused by mutation in PLCE1 nephrotic syndrome, type 3 NPHS3 nephrotic syndrome, early-onset, type 3 nephrotic syndrome, type 3 MONDO:0012547 Any Noonan syndrome in which the cause of the disease is a mutation in the SOS1 gene. NS4 Noonan syndrome 4 Noonan syndrome caused by mutation in SOS1 Noonan syndrome type 4 SOS1 Noonan syndrome SOS1 gene related Noonan syndrome Noonan syndrome 4 https://rarediseases.info.nih.gov/diseases/10699/noonan-syndrome-4 MONDO:0012548 Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients. https://github.com/monarch-initiative/mondo/issues/4521 infantile agranulocytosis neutropenia, severe congenital 3, autosomal recessive severe congenital neutropenia type 3 Kostmann disease SCN3 agranulocytosis infantile agranulocytosis, infantile neutropenia, severe congenital, 3, autosomal recessive severe congenital neutropenia autosomal recessive 3 Kostmann syndrome MONDO:0012549 A rare disorder characterised by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations. ARCA1 SCAR8 autosomal recessive cerebellar ataxia type 1 spinocerebellar ataxia, autosomal recessive type 8 SYNE1-related autosomal recessive cerebellar ataxia ataxia, recessive, of Beauce autosomal recessive ataxia Beauce type autosomal recessive spinocerebellar ataxia 8 cerebellar ataxia, autosomal recessive, type 1 recessive ataxia of Beauce spinocerebellar ataxia autosomal recessive 8 spinocerebellar ataxia, autosomal recessive 8 autosomal recessive ataxia, Beauce type MONDO:0012550 iris pattern iris pattern MONDO:0012551 AA2 alopecia areata 2 alopecia areata 2 MONDO:0012552 Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN, an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors. CDKN1B multiple endocrine neoplasia MEN4 multiple endocrine neoplasia caused by mutation in CDKN1B multiple endocrine neoplasia type 4 multiple endocrine neoplasia, type IV multiple endocrine neoplasia, type 4 multiple endocrine neoplasia type 4 MONDO:0012553 Any COFS syndrome in which the cause of the disease is a mutation in the ERCC2 gene. COFS syndrome caused by mutation in ERCC2 COFS2 ERCC2 COFS syndrome cerebrooculofacioskeletal syndrome 2 cerebrooculofacioskeletal syndrome type 2 cerebrooculofacioskeletal syndrome 2 MONDO:0012554 Any COFS syndrome in which the cause of the disease is a mutation in the ERCC1 gene. COFS syndrome caused by mutation in ERCC1 COFS4 ERCC1 COFS syndrome cerebrooculofacioskeletal syndrome 4 cerebrooculofacioskeletal syndrome type 4 cerebrooculofacioskeletal syndrome 4 MONDO:0012555 Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the SMC3 gene. https://github.com/monarch-initiative/mondo/issues/4948 Cornelia De Lange syndrome type 3 Cornelia de Lange syndrome 3 Cornelia de Lange syndrome caused by mutation in SMC3 Cornelia de Lange syndrome caused by mutation in Smc3 SMC3 Cornelia de Lange syndrome Smc3 Cornelia de Lange syndrome CDLS3 Cornelia DE Lange syndrome 3 Cornelia de Lange syndrome 3 MONDO:0012556 DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity. CDG syndrome type Im CDG-Im CDG1M DK1-CDG DK1-congenital disorder of glycosylation carbohydrate deficient glycoprotein syndrome type Im congenital disorder of glycosylation type 1m congenital disorder of glycosylation type Im dolichol kinase deficiency hypotonia and ichthyosis due to dolichol phosphate deficiency CDG Im CDGIm DOLK-CDG (CDG-Im) Dk1 deficiency congenital disorder of glycosylation, type Im DK1-congenital disorder of glycosylation MONDO:0012557 Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter. hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome Mpcd mitochondrial phosphate carrier deficiency cardiomyopathy-hypotonia-lactic acidosis syndrome MONDO:0012558 epiphyseal dysplasia, Baumann type epiphyseal dysplasia, Baumann type MONDO:0012559 Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections. primary immunodeficiency syndrome due to LAMTOR2 deficiency primary immunodeficiency syndrome with short stature immunodeficiency due to defect in MAPBP-interacting PROTEIN immunodeficiency due to defect in Mapbp-interacting Protein primary immunodeficiency syndrome due to p14 deficiency MONDO:0012561 Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the DSTYK gene. CAKUT1 DSTYK congenital anomaly of kidney and urinary tract congenital anomalies of kidney and urinary tract 1 congenital anomaly of kidney and urinary tract caused by mutation in DSTYK renal hypodysplasia, nonsyndromic, 1 congenital anomalies of kidney and urinary tract 1 MONDO:0012562 Any holoprosencephaly in which the cause of the disease is a mutation in the PTCH1 gene. HPE7 PTCH1 holoprosencephaly holoprosencephaly 7 holoprosencephaly caused by mutation in PTCH1 holoprosencephaly type 7 holoprosencephaly 7 MONDO:0012563 Any holoprosencephaly in which the cause of the disease is a mutation in the GLI2 gene. GLI2 holoprosencephaly HPE9 holoprosencephaly 9 holoprosencephaly caused by mutation in GLI2 holoprosencephaly type 9 holoprosencephaly with microphthalmia and first branchial arch anomalies pituitary anomalies with holoprosencephaly-like features holoprosencephaly with microphthalmia and first branchial Arch anomalies holoprosencephaly 9 MONDO:0012564 Polyosteolysis-hyperostosis syndrome Polyosteolysis/hyperostosis syndrome Polyosteolysis-hyperostosis syndrome https://rarediseases.info.nih.gov/diseases/10456/polyosteolysishyperostosis-syndrome MONDO:0012565 Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene. FANCN Fanconi Anemia, complementation group type N Fanconi anemia caused by mutation in PALB2 Fanconi anemia complementation group N Fanconi anemia complementation group type N PALB2 Fanconi anemia Fanconi anemia, complementation group N Fanconi anemia complementation group N MONDO:0012566 https://github.com/monarch-initiative/mondo/issues/4521 AUTS11 autism susceptibility 11 autism, susceptibility to, 11 autism, susceptibility to, 11 MONDO:0012567 https://github.com/monarch-initiative/mondo/issues/4521 AUTS12 autism susceptibility 12 autism, susceptibility to, 12 autism, susceptibility to, 12 MONDO:0012568 OS4 osteoarthritis susceptibility 4 osteoarthritis, generalized, without dysplasia osteoarthritis susceptibility 4 MONDO:0012569 MMVP3 mitral valve prolapse, myxomatous 3 MVP3 mitral valve prolapse 3 myxomatous mitral valve prolapse 3 mitral valve prolapse, myxomatous 3 MONDO:0012570 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs. PXE-like syndrome pseudoxanthoma elasticum-like syndrome PXE-like disorder with multiple coagulation Factor deficiency pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency MONDO:0012571 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the NME8 gene. CILD6 NME8 primary ciliary dyskinesia ciliary dyskinesia, primary, type 6 primary ciliary dyskinesia caused by mutation in NME8 primary ciliary dyskinesia type 6 ciliary dyskinesia, primary, 6 primary ciliary dyskinesia 6 MONDO:0012572 Sakoda complex Sakoda spectrum sphenoethmoidal encephalomeningocele agenesis of the corpus callosum and cleft lip/palate sphenoethmoidal encephalomeningocele, agenesis of the corpus callosum, and cleft Lip/palate Sakoda complex https://rarediseases.info.nih.gov/diseases/9695/sakoda-complex MONDO:0012573 Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene. ROBO2 vesicoureteral reflux (disease) vesicoureteral reflux (disease) caused by mutation in ROBO2 vesicoureteral reflux 2 vesicoureteral reflux type 2 VUR2 vesicoureteral reflux 2 MONDO:0012574 17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioural problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 17p11.2 Duplication syndrome 17p11.2 microduplication syndrome Potocki-Lupski syndrome Potocki-Lupski syndrome, Isolated cases chromosome 17p11.2 duplication syndrome trisomy 17p11.2 Duplication 17p11.2 syndrome PTLS Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) chromosome 17P11.2 Duplication syndrome Potocki-Lupski syndrome MONDO:0012575 Any branchio-oto-renal syndrome in which the cause of the disease is a mutation in the SIX5 gene. SIX5 branchio-oto-renal syndrome branchio-oto-renal syndrome caused by mutation in SIX5 branchiootorenal syndrome 2 branchiootorenal syndrome type 2 BOR2 branchiootorenal syndrome 2 MONDO:0012576 PSNP3 supranuclear palsy, progressive, 3 supranuclear palsy, progressive, 3 MONDO:0012577 asthma-related traits, susceptibility to, 4 asthma-related traits, susceptibility to, type 4 ASRT4 asthma and allergic rhinitis, susceptibility to asthma-related traits, susceptibility to, 4 MONDO:0012578 https://github.com/monarch-initiative/mondo/issues/4521 AUTS13 autism susceptibility 13 autism, susceptibility to, 13 autism, susceptibility to, 13 MONDO:0012579 Pulmonary alveolar proteinosis (PAP) is a rare lung disease characterized by the accumulation of a lipoproteinaceous substance in the distal air spaces which positively stains with periodic acid-Schiff (PAS). APAP autoimmune PAP iPAP idiopathic PAP idiopathic pulmonary alveolar proteinosis PAP PAP acquired Pap, acquired acquired pulmonary alveolar proteinosis pulmonary alveolar lipoproteinosis acquired pulmonary alveolar lipoproteinosis, acquired pulmonary alveolar proteinosis acquired pulmonary alveolar proteinosis autoimmune pulmonary alveolar proteinosis, acquired pulmonary alveolar proteinosis, autoimmune autoimmune pulmonary alveolar proteinosis https://rarediseases.info.nih.gov/diseases/7499/autoimmune-pulmonary-alveolar-proteinosis MONDO:0012580 Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure. congenital PAP congenital pulmonary alveolar proteinosis hereditary pulmonary alveolar proteinosis inborn error of pulmonary surfactant metabolism pulmonary alveolar proteinosis, congenital sufactant metabolism dysfunction, pulmonary hereditary pulmonary alveolar proteinosis MONDO:0012581 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the P3H1 gene. https://github.com/monarch-initiative/mondo/issues/4948 OI8 P3H1 osteogenesis imperfecta osteogenesis imperfecta caused by mutation in P3H1 osteogenesis imperfecta type 8 osteogenesis imperfecta type VIII OI type VIII OI, type 8 osteogenesis imperfecta, type 8 osteogenesis imperfecta, type VIII osteogenesis imperfecta type 8 MONDO:0012582 Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea. interstitial lung disease due to ABCA3 deficiency interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency surfactant metabolism dysfunction, pulmonary, type 3 SMDP3 pulmonary alveolar proteinosis, congenital, 3 surfactant metabolism dysfunction, pulmonary, 3 interstitial lung disease due to ABCA3 deficiency MONDO:0012583 STHAG5 tooth agenesis, selective, 5 he-Zhao deficiency hypodontia/oligodontia 5 tooth agenesis, selective, 5 MONDO:0012584 Any systemic lupus erythematosus in which the cause of the disease is a mutation in the CR2 gene. CR2 systemic lupus erythematosus (disease) systemic lupus erythematosus (disease) caused by mutation in CR2 systemic lupus erythematosus, susceptibility to, 9 systemic lupus erythematosus, susceptibility to, type 9 SLEB9 susceptibility to systemic lupus erythematosus 9 systemic lupus erythematosus, susceptibility to, 9 MONDO:0012585 Any coronary artery disease in which the cause of the disease is a mutation in the CD36 gene. CD36 coronary artery disease coronary artery disease caused by mutation in CD36 coronary heart disease, susceptibility to, 7 coronary heart disease, susceptibility to, type 7 CHDS7 susceptibility to coronary heart disease 7 coronary heart disease, susceptibility to, 7 MONDO:0012586 Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene. https://github.com/monarch-initiative/mondo/issues/4521 LRP6 coronary artery disease coronary artery disease caused by mutation in LRP6 coronary artery disease, autosomal dominant 2 coronary artery disease, autosomal dominant type 2 coronary artery disease, autosomal dominant, 2 ADCAD2 coronary artery disease, autosomal dominant 2 MONDO:0012587 https://github.com/monarch-initiative/mondo/issues/4882 hypertension, essential, susceptibility to, 7 hypertension, essential, susceptibility to, type 7 Hyt7 hypertension, essential, susceptibility to, 7 MONDO:0012588 Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). CLN7-NCL is caused by changes (mutations) in the MFSD8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms. CLN7 MFSD8 neuronal ceroid lipofuscinosis ceroid lipofuscinosis, neuronal, type 7 neuronal ceroid lipofuscinosis 7 neuronal ceroid lipofuscinosis caused by mutation in MFSD8 neuronal ceroid lipofuscinosis type 7 CLN7 disease CLN7 disease, late infantile ceroid lipofuscinosis, neuronal, 7 neuronal ceroid lipofuscinosis 7 https://rarediseases.info.nih.gov/diseases/1220/neuronal-ceroid-lipofuscinosis-7 MONDO:0012589 Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing. https://github.com/monarch-initiative/mondo/issues/5588 Pitt-Hopkins syndrome PTHS Pitt Hopkins syndrome encephalopathy, Severe epileptic, with autonomic dysfunction intellectual disability, Syndromal, with intermittent hyperventilation intellectual disability, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea mental retardation, Syndromal, with intermittent hyperventilation Pitt-Hopkins syndrome https://rarediseases.info.nih.gov/diseases/4372/pitt-hopkins-syndrome MONDO:0012590 A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment. It has material basis in homozygous mutation in the ERCC4 gene on chromosome 16p13. XFE progeroid syndrome XFEPS XPF-ERCC1 progeroid syndrome XFE progeroid syndrome https://rarediseases.info.nih.gov/diseases/10628/xfe-progeroid-syndrome MONDO:0012591 Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI). https://github.com/monarch-initiative/mondo/issues/4948 IFITM5 osteogenesis imperfecta OI type 5 OI5 osteogenesis imperfecta caused by mutation in IFITM5 osteogenesis imperfecta type V OI type V OI with calcification in interosseous membranes OI, type 5 osteogenesis imperfecta, type 5 osteogenesis imperfecta, type V type V OI osteogenesis imperfecta type 5 MONDO:0012592 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the FKBP10 gene. https://github.com/monarch-initiative/mondo/issues/4948 FKBP10 osteogenesis imperfecta OI11 osteogenesis imperfecta caused by mutation in FKBP10 osteogenesis imperfecta type XI OI type 11 OI type XI OI, type 11 osteogenesis imperfecta, type 11 osteogenesis imperfecta, type XI osteogenesis imperfecta type 11 MONDO:0012593 Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC). https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 brain-lung-thyroid syndrome choreoathetosis, hypothyroidism, and neonatal respiratory distress choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome BLT syndrome CAHTP choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction choreoathetosis-hypothyroidism-neonatal respiratory distress brain-lung-thyroid syndrome https://rarediseases.info.nih.gov/diseases/12163/brain-lung-thyroid-syndrome MONDO:0012594 C3 inactivator deficiency complement component 3 inactivator deficiency complement factor I deficiency CFID complement Factor 1 deficiency immunodeficiency with factor I anomaly complement factor I deficiency MONDO:0012595 Any leprosy in which the cause of the disease is a mutation in the LTA gene. LTA leprosy leprosy caused by mutation in LTA leprosy, susceptibility to, 4 leprosy, susceptibility to, type 4 LPRS4 leprosy, early-onset, susceptibility to susceptibility to leprosy 4 leprosy, susceptibility to, 4 MONDO:0012596 Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia. PSAT deficiency phosphoserine aminotransferase deficiency PSATD PSAT deficiency MONDO:0012597 prostate cancer, hereditary, 9 prostate cancer, hereditary, type 9 HPC9 prostate cancer, hereditary, 9 MONDO:0012598 GINGF4 fibromatosis, gingival, 4 GGF4 HGF4 fibromatosis gingival, hereditary, 4 fibromatosis, gingival, hereditary, 4 gingival fibromatosis, 4 hereditary gingival fibromatosis, 4 fibromatosis, gingival, 4 MONDO:0012599 https://github.com/monarch-initiative/mondo/issues/4882 HYT8 hypertension, essential, susceptibility to, 8 hypertension, essential, susceptibility to, 8 MONDO:0012600 AUTS9 autism, susceptibility to, 9 autism, susceptibility to, 9 MONDO:0012601 AUTS10 autism, susceptibility to, 10 autism, susceptibility to, 10 MONDO:0012602 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RDX gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB24 RDX autosomal recessive nonsyndromic deafness autosomal recessive deafness 24 autosomal recessive nonsyndromic deafness 24 autosomal recessive nonsyndromic deafness caused by mutation in RDX autosomal recessive nonsyndromic deafness type 24 deafness, autosomal recessive 24 deafness, autosomal recessive type 24 autosomal recessive nonsyndromic hearing loss 24 MONDO:0012603 A dystonia characterized by autosomal dominant inheritance of recurrent brief involuntary hyperkinesias triggered by sudden movements that has material basis in variation in the chromosome region 16q13-q22.1. episodic kinesigenic dyskinesia 2 episodic kinesigenic dyskinesia type 2 EKD2 dystonia 19 episodic kinesigenic dyskinesia 2 MONDO:0012604 Any isolated microphthalmia in which the cause of the disease is a mutation in the RAX gene. MCOP3 RAX isolated microphthalmia isolated microphthalmia 3 isolated microphthalmia caused by mutation in RAX isolated microphthalmia caused by mutation in rax isolated microphthalmia type 3 microphthalmia, isolated type 3 rax isolated microphthalmia microphthalmia, isolated 3 isolated microphthalmia 3 MONDO:0012605 Any isolated microphthalmia in which the cause of the disease is a mutation in the MFRP gene. MCOP5 MFRP isolated microphthalmia Nanophtalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome isolated microphthalmia 5 isolated microphthalmia caused by mutation in MFRP isolated microphthalmia type 5 microphthalmia, isolated type 5 microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen microphthalmia, isolated 5 microphthalmia, posterior, with retinitis pigmentosa, foveoschisis, and optic Disc drusen isolated microphthalmia 5 MONDO:0012606 Mycobacterium tuberculosis, susceptibility to, type 2 mycobacterium tuberculosis, susceptibility to, 2 MTBS2 mycobacterium tuberculosis, susceptibility to, 2 MONDO:0012607 Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the IRAK3 gene. https://github.com/monarch-initiative/mondo/issues/4521 IRAK3 inherited susceptibility to asthma asthma susceptibility 5 asthma-related traits, susceptibility to, 5 asthma-related traits, susceptibility to, type 5 inherited susceptibility to asthma caused by mutation in IRAK3 ASRT5 asthma-related traits, susceptibility to, 5 MONDO:0012608 A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported. autosomal recessive distal spinal muscular atrophy type 4 dSMA4 distal spinal muscular atrophy type 4 spinal muscular atrophy, distal, autosomal recessive, type 4 DSMA4 spinal muscular atrophy, distal, autosomal recessive, 4 autosomal recessive lower motor neuron disease with childhood onset MONDO:0012609 An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22. AD12 Alzheimer disease 12 Alzheimer disease familial 12 Alzheimer disease type 12 Alzheimer's disease 12 Alzheimer's disease type 12 Ad12 Alzheimer disease, familial, 12 Alzheimer disease 12 MONDO:0012610 Any inflammatory bowel disease in which the cause of the disease is a mutation in the ATG16L1 gene. ATG16L1 inflammatory bowel disease IBD10 inflammatory bowel disease (Crohn disease) 10 inflammatory bowel disease 10 inflammatory bowel disease caused by mutation in ATG16L1 inflammatory bowel disease type 10 inflammatory bowel disease 10 MONDO:0012611 https://github.com/monarch-initiative/mondo/issues/5588 PMSE syndrome polyhydramnios, megalencephaly, and symptomatic epilepsy PMSE polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome polyhydramnios-megalencephaly-symptomatic epilepsy syndrome pretzel syndrome polyhydramnios, megalencephaly, and symptomatic epilepsy MONDO:0012612 https://github.com/monarch-initiative/mondo/issues/4521 intellectual developmental disorder, autosomal recessive 12 intellectual disability, autosomal recessive 12 intellectual disability, autosomal recessive type 12 mental retardation, autosomal recessive type 12 MRT12 mental retardation, autosomal recessive 12 intellectual disability, autosomal recessive 12 MONDO:0012613 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NSUN2 gene. NSUN2 autosomal recessive non-syndromic intellectual disability autosomal recessive non-syndromic intellectual disability caused by mutation in NSUN2 intellectual disability, autosomal recessive 5 intellectual disability, autosomal recessive type 5 mental retardation, autosomal recessive type 5 MRT5 mental retardation, autosomal recessive 5 intellectual disability, autosomal recessive 5 MONDO:0012614 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIK2 gene. https://github.com/monarch-initiative/mondo/issues/4521 GRIK2 autosomal recessive non-syndromic intellectual disability autosomal recessive non-syndromic intellectual disability caused by mutation in GRIK2 intellectual developmental disorder, autosomal recessive 6 intellectual disability, autosomal recessive 6 intellectual disability, autosomal recessive type 6 mental retardation, autosomal recessive type 6 MRT6 mental retardation, autosomal recessive 6 intellectual disability, autosomal recessive 6 MONDO:0012615 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TUSC3 gene. TUSC3 autosomal recessive non-syndromic intellectual disability autosomal recessive non-syndromic intellectual disability caused by mutation in TUSC3 intellectual disability, autosomal recessive 7 intellectual disability, autosomal recessive type 7 mental retardation, autosomal recessive type 7 MRT7 intellectual disability, autosomal recessive 22 mental retardation, autosomal recessive 22 mental retardation, autosomal recessive 7 intellectual disability, autosomal recessive 7 MONDO:0012617 https://github.com/monarch-initiative/mondo/issues/4521 MRT9 intellectual disability, autosomal recessive 9 mental retardation, autosomal recessive, 9/26 intellectual disability, autosomal recessive 26 mental retardation, autosomal recessive 26 mental retardation, autosomal recessive 9 intellectual disability, autosomal recessive 9 MONDO:0012618 https://github.com/monarch-initiative/mondo/issues/4521 MRT10 intellectual disability, autosomal recessive 10 mental retardation, autosomal recessive 10/20 intellectual disability, autosomal recessive 20 mental retardation, autosomal recessive 10 mental retardation, autosomal recessive 20 intellectual disability, autosomal recessive 10 MONDO:0012619 https://github.com/monarch-initiative/mondo/issues/4521 MRT11 intellectual disability, autosomal recessive 11 mental retardation, autosomal recessive, 11 mental retardation, autosomal recessive 11 intellectual disability, autosomal recessive 11 MONDO:0012620 HPC10 prostate cancer, hereditary, 10 prostate cancer, hereditary, 10 MONDO:0012621 Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility. https://github.com/monarch-initiative/mondo/issues/4521 deafness and male infertility deafness-infertility syndrome dis chromosome 15Q15.3 deletion syndrome deafness, sensorineural, and Male infertility sensorineural deafness and male infertility deafness-infertility syndrome https://rarediseases.info.nih.gov/diseases/11911/deafness-infertility-syndrome MONDO:0012622 This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter. LBSL leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome leukoencephalopathy with brain stem and spinal cord involvement - high lactate leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation mitochondrial aspartyl-tRNA synthetase deficiency leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome MONDO:0012623 https://github.com/monarch-initiative/mondo/issues/4521 MRT4 intellectual disability, autosomal recessive 4 mental retardation, autosomal recessive, 4 mental retardation, autosomal recessive 4 intellectual disability, autosomal recessive 4 MONDO:0012624 A rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy. https://github.com/monarch-initiative/mondo/issues/4521 ACAD9 deficiency acyl-CoA dehydrogenase 9 deficiency mitochondrial complex I deficiency due to ACAD9 deficiency mitochondrial complex I deficiency, nuclear type 20 acyl-CoA dehydrogenase 9 deficiency MONDO:0012625 Any retinitis pigmentosa in which the cause of the disease is a mutation in the NR2E3 gene. NR2E3 retinitis pigmentosa RP37 retinitis pigmentosa 37 retinitis pigmentosa caused by mutation in NR2E3 retinitis pigmentosa type 37 retinitis pigmentosa 37 MONDO:0012626 Any Meckel syndrome in which the cause of the disease is a mutation in the CEP290 gene. https://github.com/monarch-initiative/mondo/issues/4948 CEP290 Meckel syndrome MKS4 Meckel syndrome caused by mutation in CEP290 Meckel syndrome, type 4 Meckel-Gruber syndrome, type 4 Meckel syndrome 4 Meckel-like Cerebrorenodigital syndrome Meckel syndrome, type 4 MONDO:0012627 An inherited susceptibility or predisposition to developing juvenile myclonic epilepsy, idiopathic generalized epilepsy, or childhood absence epilepsy in which the cause of the disease is a mutation in the GABRA1 gene. EIG13 epilepsy, idiopathic generalized, susceptibility to, 13 epilepsy, idiopathic generalized, susceptibility to, type 13 susceptibility to idiopathic generalized epilepsy 13 GABRA1 juvenile myoclonic epilepsy epilepsy, childhood absence, susceptibility to, 4 epilepsy, juvenile myoclonic, susceptibility to, 5 juvenile myoclonic epilepsy caused by mutation in GABRA1 epilepsy, idiopathic generalized, susceptibility to, 13 MONDO:0012628 https://github.com/monarch-initiative/mondo/issues/4882 CHDS8 coronary heart disease, susceptibility to, 8 coronary heart disease, susceptibility to, 8 MONDO:0012629 A dystonia characterized by autosomal dominant inheritance of attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has material basis in variation in the chromosome region 2q31. paroxysmal nonkinesigenic dyskinesia 2 paroxysmal nonkinesigenic dyskinesia type 2 PNKD2 dystonia 20 paroxysmal nonkinesigenic dyskinesia 2 MONDO:0012630 An Alzheimer's disease that is characterized by an associated with variation in the region 1q21. https://github.com/monarch-initiative/mondo/issues/4521 AD13 Alzheimer disease 13 Alzheimer disease-13 Alzheimer's disease 13 Alzheimer's disease type 13 Alzheimer disease 13 MONDO:0012631 An Alzheimer's disease that is characterized by an associated with variation in the region 1q25. https://github.com/monarch-initiative/mondo/issues/4521 AD14 Alzheimer disease 14 Alzheimer disease-14 Alzheimer's disease 14 Alzheimer's disease type 14 Alzheimer disease 14 MONDO:0012634 Hamamy syndrome HAMAMY syndrome HMMS hypertelorism, Severe, with midface prominence, myopia, intellectual disability, and bone fragility hypertelorism, Severe, with midface prominence, myopia, mental retardation, and bone fragility craniofacial dysplasia - osteopenia syndrome MONDO:0012635 The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products. CDG syndrome type IIh CDG-IIh CDG2H COG8-CDG COG8-congenital disorder of glycosylation carbohydrate deficient glycoprotein syndrome type IIh congenital disorder of glycosylation type 2h congenital disorder of glycosylation type IIh CDG IIh COG8-CDG (CDG-IIh) congenital disorder of glycosylation, type IIh COG8-congenital disorder of glycosylation MONDO:0012636 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 RLS6 restless legs syndrome 6 restless legs syndrome, susceptibility to, 6 periodic limb movements in sleep restless legs syndrome, susceptibility to, 6 MONDO:0012637 COG1-CDG is an extremely rare form of CDG syndrome characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism. CDG syndrome type IIg CDG-IIg CDG2G COG1-CDG COG1-congenital disorder of glycosylation carbohydrate deficient glycoprotein syndrome type IIg congenital disorder of glycosylation type 2g congenital disorder of glycosylation type IIg CDG 2G CDG IIg COG1-CDG (CDG-IIg) Cdgii/Cog1 Cerebrocostomandibular-like syndrome congenital disorder of glycosylation, type IIg COG1-congenital disorder of glycosylation MONDO:0012638 Microphthalmia-brain atrophy (MOBA) syndrome is a rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter. https://github.com/monarch-initiative/mondo/issues/5588 MCOPS10 MOBA syndrome syndromic microphthalmia type 10 MOBA microphthalmia and brain atrophy microphthalmia syndromic 10 microphthalmia, syndromic 10 microphthalmia-brain atrophy syndrome https://rarediseases.info.nih.gov/diseases/9292/microphthalmia-syndromic-10 MONDO:0012639 A rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2. ERLIN2 autosomal recessive complex spastic paraplegia SPG18 autosomal recessive complex spastic paraplegia caused by mutation in ERLIN2 autosomal recessive spastic paraplegia 18 autosomal recessive spastic paraplegia type 18 hereditary spastic paraplegia type 18 intellectual disability, motor dysfunction and joint contractures intellectual disability, motor dysfunction, and Joint contractures spastic paraplegia 18 spastic paraplegia 18, autosomal recessive hereditary spastic paraplegia 18 MONDO:0012640 Charcot-Marie-Tooth disease, type 4J (CMT4J) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases. CMT4J Charcot-Marie-Tooth disease type 4 caused by mutation in FIG4 FIG4 Charcot-Marie-Tooth disease type 4 autosomal recessive Charcot-Marie-Tooth disease type 4J Charcot-Marie-Tooth disease, autosomal recessive, type 4J Charcot-Marie-Tooth disease, type 4J Charcot-Marie-Tooth disease type 4J https://rarediseases.info.nih.gov/diseases/12443/charcot-marie-tooth-disease-type-4j MONDO:0012641 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 RLS5 restless legs syndrome 5 restless legs syndrome, susceptibility to, 5 RLS 5 restless legs syndrome, susceptibility to, 5 MONDO:0012642 MAFD4 major affective disorder 4 MAJOR affective disorder 4 bipolar affective disorder major affective disorder 4 MONDO:0012643 Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21. SPG32 autosomal recessive spastic paraplegia 32 autosomal recessive spastic paraplegia type 32 hereditary spastic paraplegia type 32 spastic paraplegia 32 spastic paraplegia 32, autosomal recessive hereditary spastic paraplegia 32 MONDO:0012644 Any Jeune syndrome in which the cause of the disease is a mutation in the IFT80 gene. ATD2 IFT80 Jeune syndrome Jeune syndrome caused by mutation in IFT80 SRTD2 asphyxiating thoracic dystrophy 2 asphyxiating thoracic dystrophy type 2 short-rib thoracic dysplasia 2 with or without polydactyly asphyxiating thoracic dystrophy 2 MONDO:0012645 GLC1N JOAG1N glaucoma 1, open angle, N glaucoma 1, open angle, N MONDO:0012648 An inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25). https://github.com/monarch-initiative/mondo/issues/324 https://github.com/monarch-initiative/mondo/issues/4985 isobutyric aciduria isobutyryl-CoA dehydrogenase deficiency Acad8 deficiency IBD deficiency acyl-Coa dehydrogenase family, member 8, deficiency of acyl-CoaA dehydrogenase family, member 8, deficiency of isobutyryl-CoA dehydrogenase deficiency https://rarediseases.info.nih.gov/diseases/10223/isobutyryl-coa-dehydrogenase-deficiency MONDO:0012650 Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia. Cernunnos XLFD Cernunnos deficiency Cernunnos-XLF deficiency NHEJ1 deficiency combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome Nhej1 syndrome SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, and sensitivity to ionizing radiation due to Nhej1 deficiency SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with microcephaly, Growth retardation, and sensitivity to ionizing radiation severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation severe combined immunodeficiency with sensitivity to ionizing radiation due to Nhej1 deficiency Cernunnos-XLF deficiency MONDO:0012651 Autosomal recessive spastic paraplegia type 58 is a rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs. KIF1C spastic ataxia SPAX2 SPG58 autosomal recessive spastic ataxia type 2 spastic ataxia 2 spastic ataxia caused by mutation in KIF1C spastic ataxia type 2 autosomal recessive spastic paraplegia type 58 spastic ataxia 2, autosomal recessive spastic ataxia 2 MONDO:0012652 A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. However, calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood. https://github.com/monarch-initiative/mondo/issues/4521 ANO5 autosomal recessive limb-girdle muscular dystrophy LGMD2L autosomal recessive limb-girdle muscular dystrophy caused by mutation in ANO5 muscular dystrophy, limb-girdle, autosomal recessive 12 muscular dystrophy, limb-girdle, type 2L limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy type 2L MONDO:0012653 PHPVAD persistent hyperplastic primary vitreous, autosomal dominant persistent hyperplastic primary vitreous, autosomal dominant MONDO:0012654 Any atrial heart septal defect in which the cause of the disease is a mutation in the TBX20 gene. ASD4 TBX20 atrial heart septal defect atrial heart septal defect caused by mutation in TBX20 atrial heart septal defect type 4 atrial septal defect 4 atrial septal defect type 4 atrial septal defect 4 MONDO:0012655 https://github.com/monarch-initiative/mondo/issues/4521 EJM4 myoclonic epilepsy, juvenile, 4 myoclonic epilepsy, juvenile, susceptibility to, 4 myoclonic epilepsy, juvenile, susceptibility to, 4 MONDO:0012656 Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 Israeli Bedouin type B multiple contracture syndrome LCCS3 PIP5K1C lethal congenital contracture syndrome lethal congenital contractural syndrome 3 lethal congenital contracture syndrome 3 lethal congenital contracture syndrome caused by mutation in PIP5K1C lethal congenital contracture syndrome type 3 multiple contracture syndrome, Israeli Bedouin type B lethal congenital contracture syndrome 3 https://rarediseases.info.nih.gov/diseases/12644/lethal-congenital-contracture-syndrome-3 MONDO:0012657 MGS MUNGAN syndrome pseudoobstruction chronic idiopathic intestinal with Barrett esophagus and cardiac abnormalities pseudoobstruction, chronic idiopathic intestinal, with Barrett esophagus and Cardiac abnormalities visceral Neuromyopathy, familial, with pseudoobstruction, Megaduodenum, Barrett esophagus, and Cardiac abnormalities visceral neuromyopathy familial with pseudoobstruction megaduodenum Barrett esophagus and cardiac abnormalities Mungan syndrome MONDO:0012658 Brachydactyly type B2 is a rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness. https://github.com/monarch-initiative/mondo/issues/3709 https://github.com/monarch-initiative/mondo/issues/4948 BDB2 brachydactyly, type B2 brachydactyly type B2 MONDO:0012659 Any age-related macular degeneration in which the cause of the disease is a mutation in the C3 gene. ARMD9 C3 age-related macular degeneration age related macular degeneration type 9 age-related macular degeneration caused by mutation in C3 macular Degeneration, age-related, type 9 macular degeneration, age-related, 9 age related macular degeneration 9 MONDO:0012660 KAZA2 kala-AZAR, susceptibility to, 2 leishmaniasis, visceral, susceptibility to, 2 susceptibility to visceral leishmaniasis, 2 MONDO:0012661 KAZA3 kala-AZAR, susceptibility to, 3 leishmaniasis, visceral, susceptibility to, 3 susceptibility to visceral leishmaniasis, 3 MONDO:0012662 Any Usher syndrome in which the cause of the disease is a mutation in the WHRN gene. USH2D Usher syndrome caused by mutation in WHRN Usher syndrome type 2D Usher syndrome type IID WHRN Usher syndrome USHER syndrome, type IID Usher syndrome, type 2D Usher syndrome type 2D MONDO:0012664 Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MARS2 gene. ARSAL MARS2 autosomal recessive spastic ataxia SPAX3 autosomal recessive spastic ataxia caused by mutation in MARS2 autosomal recessive spastic ataxia type 3 spastic ataxia type 3 autosomal recessive spastic ataxia with leukoencephalopathy spastic ataxia 3, autosomal recessive spastic ataxia 3 MONDO:0012665 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the BFSP1 gene. BFSP1 early-onset non-syndromic cataract CTRCT33 cataract 33 cataract type 33 early-onset non-syndromic cataract caused by mutation in BFSP1 cortical cataract 33 cataract 33, cortical cataract 33, multiple types cataract 33 MONDO:0012666 asthma-related traits, susceptibility to, 6 asthma-related traits, susceptibility to, type 6 ASRT6 asthma-related traits, susceptibility to, 6 MONDO:0012667 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the VCL gene. CMD1W VCL familial isolated dilated cardiomyopathy cardiomyopathy, dilated, type 1W dilated cardiomyopathy type 1W familial isolated dilated cardiomyopathy caused by mutation in VCL cardiomyopathy, dilated, 1W dilated cardiomyopathy 1W MONDO:0012668 Tented eyebrows Tented eyebrows MONDO:0012669 Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple cafC)-au-lait macules with or without axillary or inguinal freckling. Legius syndrome NF1-like syndrome neurofibromatosis 1-like syndrome neurofibromatosis type 1 like syndrome neurofibromatosis type 1-like syndrome Legius syndrome https://rarediseases.info.nih.gov/diseases/10714/legius-syndrome MONDO:0012670 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LRTOMT gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB63 LRTOMT autosomal recessive nonsyndromic deafness autosomal recessive deafness 63 autosomal recessive nonsyndromic deafness 63 autosomal recessive nonsyndromic deafness caused by mutation in LRTOMT autosomal recessive nonsyndromic deafness type 63 deafness, autosomal recessive 63 deafness, autosomal recessive type 63 autosomal recessive nonsyndromic hearing loss 63 MONDO:0012671 https://github.com/monarch-initiative/mondo/issues/4521 ETM3 essential tremor, hereditary, 3 tremor, hereditary essential, 3 tremor, hereditary essential, 3 MONDO:0012672 The presence of calculi in the gallbladder. gallstones gallbladder disease type 4 GBD4 gallbladder disease 4 cholelithiasis MONDO:0012673 https://github.com/monarch-initiative/mondo/issues/4882 CRCS2 colorectal cancer, susceptibility to, 2 colorectal cancer, susceptibility to, on chromosome 8Q24 colorectal cancer, susceptibility to, 2 MONDO:0012674 Any age-related macular degeneration in which the cause of the disease is a mutation in the TLR4 gene. ARMD10 TLR4 age-related macular degeneration age related macular degeneration type 10 age-related macular degeneration caused by mutation in TLR4 macular Degeneration, age-related, type 10 macular degeneration, age-related, 10 age related macular degeneration 10 MONDO:0012675 Corticosteroid-binding globulin deficiency is a genetic disorder characterized by extreme tiredness (fatigue), particularly after physical exertion, and low blood pressure (hypotension). Corticosteroid-binding globulin (CBG) is a protein primarily produced in the liver that attaches to cortisol, a hormone with numerous functions, including maintaining blood sugar levels, protecting the body from stress, and suppressing inflammation.When cortisol is needed in the body, CBG delivers the cortisol where it is needed and releases it. Signs and symptoms of CBG deficiency vary. While some individuals may experience no symptoms, others are found to have a fatty liver and chronic pain. Some people with CBG deficiency also have chronic fatigue syndrome. CGB deficiency is caused by mutations in the SERPINA6 gene. The SERPINA6 gene is commonly also referred to as the CBG gene. Both autosomal dominant and autosomal recessive inheritance have been reported.While there is still no cure, treatment options will depend on the type and severity of symptoms present and may involve several specialists. CBG deficiency Transcortin deficiency corticosteroid-binding globulin deficiency transcortin deficiency Cbg deficiency corticosteroid-binding globulin, elevated corticosteroid-binding globulin deficiency https://rarediseases.info.nih.gov/diseases/13101/corticosteroid-binding-globulin-deficiency MONDO:0012676 Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the CLCN7 gene. https://github.com/monarch-initiative/mondo/issues/4948 CLCN7 autosomal recessive malignant osteopetrosis CLCN7 autosomal recessive osteopetrosis OPTB4 autosomal recessive malignant osteopetrosis caused by mutation in CLCN7 autosomal recessive osteopetrosis caused by mutation in CLCN7 autosomal recessive osteopetrosis type 4 infantile malignant osteopetrosis 2 osteopetrosis, autosomal recessive type 4 osteopetrosis autosomal recessive 4 osteopetrosis infantile malignant 2 osteopetrosis, autosomal recessive 4 osteopetrosis, infantile malignant 2 autosomal recessive osteopetrosis 4 https://rarediseases.info.nih.gov/diseases/5993/osteopetrosis-autosomal-recessive-4 MONDO:0012677 Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNE2 gene. KCNE2 familial atrial fibrillation atrial fibrillation, familial, 4 atrial fibrillation, familial, type 4 familial atrial fibrillation caused by mutation in KCNE2 ATFB4 atrial fibrillation, familial, 4 MONDO:0012678 ATFB5 atrial fibrillation, familial, 5 atrial fibrillation, familial, 5 MONDO:0012679 Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the PLEKHM1 gene. https://github.com/monarch-initiative/mondo/issues/4948 OPTB6 PLEKHM1 osteopetrosis (disease) autosomal recessive intermediate osteopetrosis autosomal recessive osteopetrosis intermediate form autosomal recessive osteopetrosis type 6 osteopetrosis (disease) caused by mutation in PLEKHM1 osteopetrosis, autosomal recessive type 6 intermediate osteopetrosis osteopetrosis autosomal recessive 6 osteopetrosis autosomal recessive intermediate form osteopetrosis, autosomal recessive 6 osteopetrosis, autosomal recessive, Intermediate form autosomal recessive osteopetrosis 6 https://rarediseases.info.nih.gov/diseases/4156/osteopetrosis-autosomal-recessive-6 MONDO:0012680 Any nephronophthisis in which the cause of the disease is a mutation in the GLIS2 gene. GLIS2 nephronophthisis (disease) NPHP7 nephronophthisis (disease) caused by mutation in GLIS2 nephronophthisis 7 nephronophthisis type 7 nephronophthisis 7 MONDO:0012681 FEB7 febrile seizures, familial, 7 febrile convulsions, familial, 7 febrile seizures, familial, 7 MONDO:0012682 Any hereditary predisposition to infections in which the cause of the disease is a mutation in the TYK2 gene. HIES with atypical Mycobacteriosis, autosomal recessive IMD35 TYK2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency TYK2 deficiency autosomal recessive hyper-IgE syndrome due to TYK2 deficiency autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in TYK2 hyper-IgE syndrome with atypical Mycobacteriosis, autosomal recessive immunodeficiency 35 immunodeficiency type 35 susceptibility to infection due to TYK2 deficiency tyrosine kinase 2 deficiency OMIM has the synonym hyper-IgE syndrome with atypical mycobacteriosis, autosomal recessive but the clinical description does not suggest that this is a type of hyper-IgE syndrome. Some patients presented with hyper-IgE syndrome, whereas one had mildly increased serum IgE. immunodeficiency 35 MONDO:0012683 Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis. PCH6 RARS2 non-syndromic pontocerebellar hypoplasia fatal infantile encephalopathy with mitochondrial respiratory chain defects non-syndromic pontocerebellar hypoplasia caused by mutation in RARS2 pontocerebellar hypoplasia type 6 encephalopathy fatal infantile with mitochondrial respiratory chain defects encephalopathy, fatal infantile, with mitochondrial respiratory chain defects pontocerebellar hypoplasia, type 6 pontocerebellar hypoplasia type 6 https://rarediseases.info.nih.gov/diseases/10710/pontocerebellar-hypoplasia-type-6 MONDO:0012684 Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the JUP gene. ARVC12 ARVD12 JUP familial isolated arrhythmogenic right ventricular dysplasia arrhythmogenic right ventricular cardiomyopathy 12 arrhythmogenic right ventricular dysplasia 12 arrhythmogenic right ventricular dysplasia type 12 arrhythmogenic right ventricular dysplasia, familial, type 12 familial arrhythmogenic right ventricular dysplasia 12 familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in JUP arrhythmogenic right ventricular dysplasia, familial, 12 arrhythmogenic right ventricular dysplasia 12 MONDO:0012685 MAFD5 major affective disorder 5 MAJOR affective disorder 5 bipolar affective disorder major affective disorder 5 MONDO:0012686 MAFD6 major affective disorder 6 MAJOR affective disorder 6 bipolar affective disorder major affective disorder 6 MONDO:0012687 familial CODA CODA cavitary optic DISC anomalies familial cavitary optic disc anomaly MONDO:0012688 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB1 gene. CRYBB1 early-onset non-syndromic cataract CTRCT17 early-onset non-syndromic cataract caused by mutation in CRYBB1 CATCN3 autosomal recessive congenital nuclear cataract 3 cataract 17, multiple types cataract 17, multiple types, with or without microcornea cataract, congenital nuclear, autosomal recessive 3 cataract 17 multiple types MONDO:0012689 Any primary ovarian failure in which the cause of the disease is a mutation in the NOBOX gene. NOBOX primary ovarian failure premature ovarian failure 5 premature ovarian failure type 5 primary ovarian failure caused by mutation in NOBOX Pof5 premature ovarian failure 5 MONDO:0012690 Any Noonan syndrome in which the cause of the disease is a mutation in the RAF1 gene. NS5 Noonan syndrome 5 Noonan syndrome caused by mutation in RAF1 Noonan syndrome type 5 RAF1 Noonan syndrome RAF1 gene related Noonan syndrome Noonan syndrome 5 https://rarediseases.info.nih.gov/diseases/10700/noonan-syndrome-5 MONDO:0012691 Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the RAF1 gene. LEOPARD syndrome 2 Leopard syndrome type 2 leopard syndrome 2 LPRD2 LEOPARD syndrome 2 MONDO:0012692 renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies MONDO:0012693 A glycogen storage disease characterised by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase. https://github.com/monarch-initiative/mondo/issues/4985 GSD due to muscle and heart glycogen synthase deficiency GSD type 0b glycogen storage disease due to glycogen synthase deficiency of heart glycogen storage disease type 0b glycogenosis due to muscle and heart glycogen synthase deficiency glycogenosis type 0b heart glycogen storage disease due to glycogen synthase deficiency GSD 0B GSD0B glycogen storage disease 0, muscle glycogen storage disease type 0, muscle muscle glycogen storage disease 0 muscle glycogen synthase deficiency glycogen storage disease due to muscle and heart glycogen synthase deficiency MONDO:0012694 Any Joubert syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene. JBTS7 Joubert syndrome 7 Joubert syndrome caused by mutation in RPGRIP1L Joubert syndrome type 7 RPGRIP1L Joubert syndrome Joubert syndrome 7 MONDO:0012695 Any Meckel syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene. https://github.com/monarch-initiative/mondo/issues/4948 MKS5 Meckel syndrome caused by mutation in RPGRIP1L Meckel syndrome, type 5 Meckel-Gruber syndrome, type 5 RPGRIP1L Meckel syndrome Meckel syndrome 5 Meckel syndrome, type 5 MONDO:0012696 OTSC4 otosclerosis 4 otosclerosis 4 MONDO:0012697 OTSC7 otosclerosis 7 otosclerosis 7 MONDO:0012698 Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SOX10 gene. SOX10 Waardenburg syndrome type 2 WS2E WS2E with or without neurological involvement Waardenburg syndrome type 2 caused by mutation in SOX10 Waardenburg syndrome type 2E with or without neurologic involvement Waardenburg syndrome type IIE hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation Waardenburg syndrome, type 2E Waardenburg syndrome, type 2E, with or without neurologic involvement Ws2E, with or without neurologic involvement hypogonadotropic hypogonadism with anosmia and deafness, with or without hypopigmentation Waardenburg syndrome type 2E MONDO:0012699 A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases. FKTN autosomal recessive limb-girdle muscular dystrophy LGMD-FKTN related LGMD2M MDDGC4 autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKTN muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4 limb-girdle muscular dystrophy type 2M muscular dystrophy, limb-girdle, type 2M muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 autosomal recessive limb-girdle muscular dystrophy type 2M MONDO:0012700 Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA) characterized by a defect in renal acidification and hereditary hemolytic anemia. https://github.com/monarch-initiative/mondo/issues/4521 dRTA with anemia distal renal tubular acidosis 4 with hemolytic anemia distal renal tubular acidosis with anemia RTA, distal, autosomal recessive, with hemolytic Anemia renal tubular acidosis, distal, with hemolytic anemia renal tubular acidosis, distal, with normal Red cell morphology renal tubular acidosis, distal, 4, with hemolytic anemia MONDO:0012701 A cataract that has material basis in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22. CTRCT12 cataract 12, multiple types cataract 12 multiple types MONDO:0012702 https://github.com/monarch-initiative/mondo/issues/4882 CELIAC6 celiac disease, susceptibility to, 6 autoimmune disease, susceptibility to, 5 gluten-sensitive enteropathy, susceptibility to, 6 celiac disease, susceptibility to, 6 MONDO:0012703 Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis. LIS3 lissencephaly 3 lissencephaly due to TUBA1A mutation MONDO:0012704 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the FKTN gene. CMD1X FKTN familial isolated dilated cardiomyopathy cardiomyopathy, dilated, type 1X dilated cardiomyopathy type 1X dilated cardiomyopathy with mild or no proximal muscle weakness familial isolated dilated cardiomyopathy caused by mutation in FKTN cardiomyopathy, dilated, 1X cardiomyopathy, dilated, with mild or No proximal muscle weakness dilated cardiomyopathy 1X MONDO:0012705 ETL3 FMTLE familial mesial temporal lobe epilepsy familial temporal lobe epilepsy type 3 epilepsy, familial mesial temporal lobe epilepsy, familial temporal lobe, 3 familial temporal lobe epilepsy 3 MONDO:0012706 A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has material basis in variation in the chromosome region 9q21-q22. ETL4 familial temporal lobe epilepsy type 4 EPOLM epilepsy, familial temporal lobe, 4 epilepsy, occipitotemporal lobe, and migraine with aura occipitotemporal lobe epilepsy and migraine with aura familial temporal lobe epilepsy 4 MONDO:0012707 FEB9 febrile convulsions, familial, 9 febrile seizures, familial, 9 familial febrile seizures 9 MONDO:0012708 PLSA1 Pls, adult primary lateral sclerosis, ADULT, 1 primary lateral sclerosis, adult, 1 MONDO:0012709 Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the SHH gene. https://github.com/monarch-initiative/mondo/issues/4521 SHH microphthalmia, isolated, with coloboma Shh microphthalmia, isolated, with coloboma microphthalmia with coloboma 5 microphthalmia, isolated, with coloboma 5 microphthalmia, isolated, with coloboma caused by mutation in SHH microphthalmia, isolated, with coloboma caused by mutation in Shh microphthalmia, isolated, with coloboma type 5 MCOPCB5 microphthalmia, isolated, with coloboma 5 MONDO:0012710 https://github.com/monarch-initiative/mondo/issues/4882 HSCR9 Hirschsprung disease, susceptibility to, 9 Hirschsprung disease, susceptibility to, 9 MONDO:0012711 peripapillary atrophy, beta type Beta-PPA PPAB peripapillary atrophy, BETA type peripapillary chorioretinal atrophy, Beta type peripapillary atrophy, beta type MONDO:0012712 DYTCA dystonia with cerebellar atrophy dystonia with cerebellar atrophy MONDO:0012713 spondylometaphyseal dysplasia, East African type spondylometaphyseal dysplasia East-African type spondylometaphyseal dysplasia, East African type https://rarediseases.info.nih.gov/diseases/4992/spondylometaphyseal-dysplasia-east-african-type MONDO:0012714 Salih myopathy EOMFC SALMY myopathy, early-onset, with fatal cardiomyopathy early-onset myopathy with fatal cardiomyopathy MONDO:0012715 https://github.com/monarch-initiative/mondo/issues/4521 MGR12 migraine with or without aura, susceptibility to, 12 migraine, with or without aura, susceptibility to, 12 migraine with or without aura, susceptibility to, 12 MONDO:0012716 Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia). SED-BDS spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome tattoo dysplasia Sed-BDS Tatoo dysplasia fantasy Island syndrome spondyloepiphyseal dysplasia-brachydactyly and distinctive speech spondyloepiphyseal dysplasia, Cantu type MONDO:0012717 Any primary hypomagnesemia in which the cause of the disease is a mutation in the EGF gene. EGF familial primary hypomagnesemia EGF primary hypomagnesemia HOMG4 familial primary hypomagnesemia caused by mutation in EGF primary hypomagnesemia caused by mutation in EGF renal hypomagnesemia type 4 hypomagnesemia 4, renal hypomagnesemia, renal, Normocalciuric renal hypomagnesemia 4 MONDO:0012718 This syndrome is characterised by severe hypotonia, lactic academia and congenital hyperammonaemia. COXPD5 MRPS22 combined oxidative phosphorylation deficiency combined oxidative phosphorylation defect type 5 combined oxidative phosphorylation deficiency caused by mutation in MRPS22 combined oxidative phosphorylation deficiency type 5 combined oxidative phosphorylation deficiency 5 hypotonia with lactic acidemia and hyperammonemia MONDO:0012719 Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses. combined prosaposin deficiency PSAPD combined SAP deficiency combined Sap deficiency combined saposin deficiency prosaposin deficiency encephalopathy due to prosaposin deficiency https://rarediseases.info.nih.gov/diseases/12505/encephalopathy-due-to-prosaposin-deficiency MONDO:0012720 https://github.com/monarch-initiative/mondo/issues/4521 Krabbe disease, atypical Krabbe disease, atypical due to saposin A deficiency Krabbe disease, atypical, due to saposin A deficiency saposin A deficiency Krabbe disease, atypical, due to saposin A deficiency https://rarediseases.info.nih.gov/diseases/10289/krabbe-disease-atypical-due-to-saposin-a-deficiency MONDO:0012721 Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCTD7 gene. https://github.com/monarch-initiative/mondo/issues/4521 EPM3 KCTD7 progressive myoclonic epilepsy PME type 3 epilepsy, progressive myoclonic 3, with or without intracellular inclusions progressive myoclonic epilepsy caused by mutation in KCTD7 progressive myoclonic epilepsy due to KCTD7 deficiency progressive myoclonic epilepsy type 3 progressive myoclonus epilepsy type 3 EPM 3 ceroid lipofuscinosis, neuronal, 14 epilepsy progressive myoclonic type 3 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions progressive myoclonic epilepsy 3 progressive myoclonic epilepsy type 3 https://rarediseases.info.nih.gov/diseases/2167/epilepsy-progressive-myoclonic-type-3 MONDO:0012722 Dauwerse-Peters syndrome short stature, Facial Dysmorphism, Severe brachydactyly, and syndactyly short stature, facial dysmorphism, severe brachydactyly and syndactyly Dauwerse-Peters syndrome https://rarediseases.info.nih.gov/diseases/10568/dauwerse-peters-syndrome MONDO:0012723 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CEP290 gene. https://github.com/monarch-initiative/mondo/issues/4069 CEP290 Leber congenital amaurosis LCA10 Leber congenital amaurosis 10 Leber congenital amaurosis caused by mutation in CEP290 Leber congenital amaurosis type 10 amaurosis congenita of Leber, type 10 Leber congenital amaurosis 10 https://rarediseases.info.nih.gov/diseases/10487/leber-congenital-amaurosis-10 MONDO:0012724 An autoinflammatory disease caused by mutations in the NLRP12 gene. It is characterized by periodic fevers beginning in the first year of life that are triggered by cold exposure. Episodes occur more than once per month. FCAS2 NALP12-associated hereditary periodic fever syndrome NAPS12 NLRP12 familial cold autoinflammatory syndrome NLRP12-associated hereditary periodic fever syndrome familial cold autoinflammatory syndrome 2 familial cold autoinflammatory syndrome caused by mutation in NLRP12 familial cold autoinflammatory syndrome type 2 familial cold autoinflammatory syndrome 2 MONDO:0012725 LPG lipoprotein glomerulopathy lipoprotein glomerulopathy MONDO:0012726 Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome is characterised by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal haemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures. HANAC syndrome hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome HANAC angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome MONDO:0012727 Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood. Kawasaki's disease MLNS acute febrile MCLS acute febrile mucocutaneous lymph node syndrome acute febrile mucocutaneous lymph node syndrome [MCLS] infantile polyarteritis nodosa mucocutaneous lymph node syndrome Kawasaki disease Kawasaki syndrome Kd infantile polyarteritis mucocutaneous lymph node syndrome MONDO:0012728 Any Brugada syndrome in which the cause of the disease is a mutation in the GPD1L gene. BRGDA2 Brugada syndrome 2 Brugada syndrome caused by mutation in GPD1L Brugada syndrome type 2 GPD1L Brugada syndrome Brugada syndrome 2 MONDO:0012729 Any familial polycythemia in which the cause of the disease is a mutation in the EPAS1 gene. EPAS1 familial polycythemia erythrocytosis, familial, 4 erythrocytosis, familial, type 4 familial polycythemia caused by mutation in EPAS1 ECYT4 erythrocytosis, familial, 4 MONDO:0012730 Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the ACTA2 gene. ACTA2 familial thoracic aortic aneurysm and aortic dissection aortic aneurysm, familial thoracic 6 aortic aneurysm, familial thoracic type 6 familial thoracic aortic aneurysm and aortic dissection caused by mutation in ACTA2 AAT6 familial thoracic aortic aneurysm with livedo reticularis and iris flocculi aortic aneurysm, familial thoracic 6 MONDO:0012731 Any hereditary elliptocytosis in which the cause of the disease is a mutation in the EPB41 gene. https://github.com/monarch-initiative/mondo/issues/4521 EPB41 hereditary elliptocytosis elliptocytosis 1 elliptocytosis type 1 elliptocytosis-1 hereditary elliptocytosis caused by mutation in EPB41 4.1- trait 4.1-minus trait EL1 Protein 4.1 of erythrocyte Membrane, defect of elliptocytosis, Rhesus-linked type elliptocytosis 1 MONDO:0012732 tremor, hereditary essential, and idiopathic normal pressure hydrocephalus ETINPH tremor, hereditary essential, and idiopathic normal pressure hydrocephalus MONDO:0012733 Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG). bestrophinopathy retinopathy, Burgess-Black type ARB bestrophinopathy, autosomal recessive autosomal recessive bestrophinopathy MONDO:0012734 SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs. 46,XX Sex reversal with dysgenesis of kidneys Adrenals and lungs SERKAL syndrome Sex reversion-kidneys, adrenal and lung dysgenesis syndrome 46,XX SEX reversal with dysgenesis of kidneys, ADRENALS, and lungs SERKAL SERKAL syndrome MONDO:0012735 A rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients. TMBTS Temple-Baraitser syndrome severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome intellectual disability, severe, and absent nails of hallux and pollex mental retardation, severe, and absent nails of hallux and pollex severe intellectual disability and absent nails of hallux and pollex severe mental retardation and absent nails of hallux and pollex Temple-Baraitser syndrome MONDO:0012736 Any long QT syndrome in which the cause of the disease is a mutation in the CAV3 gene. CAV3 long QT syndrome LQT9 long QT syndrome 9 long QT syndrome caused by mutation in CAV3 long QT syndrome type 9 long QT syndrome 2/9, digenic long QT syndrome 9, acquired, susceptibility to long QT syndrome 9 https://rarediseases.info.nih.gov/diseases/10435/long-qt-syndrome-9 MONDO:0012737 Any long QT syndrome in which the cause of the disease is a mutation in the SCN4B gene. LQT10 SCN4B long QT syndrome long QT syndrome 10 long QT syndrome caused by mutation in SCN4B long QT syndrome type 10 atrial fibrillation, familial, 17 long QT syndrome 10 https://rarediseases.info.nih.gov/diseases/10436/long-qt-syndrome-10 MONDO:0012738 Any long QT syndrome in which the cause of the disease is a mutation in the AKAP9 gene. AKAP9 long QT syndrome LQT11 long QT syndrome 11 long QT syndrome caused by mutation in AKAP9 long QT syndrome type 11 long QT syndrome 11 https://rarediseases.info.nih.gov/diseases/10437/long-qt-syndrome-11 MONDO:0012739 This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. Balikova-Vermeesch syndrome microtia eye coloboma and imperforation of the nasolacrimal duct microtia with nasolacrimal duct imperforation and eye coloboma microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome MONDO:0012740 Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 22 with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours. https://github.com/monarch-initiative/mondo/issues/3664 chromosome 22q11.2 deletion syndrome, distal distal 22q11.2 microdeletion syndrome distal del(22)(q11.2) distal monosomy 22q11.2 distal chromosome 22Q11.2 deletion syndrome chromosome 22q11.2 deletion syndrome, distal MONDO:0012741 Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene. EHBP1 familial prostate cancer familial prostate cancer caused by mutation in EHBP1 prostate cancer, hereditary, 12 prostate cancer, hereditary, type 12 HPC12 prostate cancer, hereditary, 12 MONDO:0012742 Any Brugada syndrome in which the cause of the disease is a mutation in the CACNA1C gene. BRGDA3 Brugada syndrome 3 Brugada syndrome caused by mutation in CACNA1C Brugada syndrome type 3 CACNA1C Brugada syndrome Brugada syndrome 3 https://rarediseases.info.nih.gov/diseases/10361/brugada-syndrome-3 MONDO:0012743 Any Brugada syndrome in which the cause of the disease is a mutation in the CACNB2 gene. BRGDA4 Brugada syndrome 4 Brugada syndrome caused by mutation in CACNB2 Brugada syndrome type 4 CACNB2 Brugada syndrome Brugada syndrome 4 https://rarediseases.info.nih.gov/diseases/10362/brugada-syndrome-4 MONDO:0012744 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene. CMD1Y TPM1 familial isolated dilated cardiomyopathy cardiomyopathy, dilated, type 1Y dilated cardiomyopathy type 1Y familial isolated dilated cardiomyopathy caused by mutation in TPM1 cardiomyopathy, dilated, 1Y left ventricular noncompaction 9 dilated cardiomyopathy 1Y MONDO:0012745 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene. CMD1Z TNNC1 familial isolated dilated cardiomyopathy cardiomyopathy, dilated, type 1Z dilated cardiomyopathy type 1Z familial isolated dilated cardiomyopathy caused by mutation in TNNC1 cardiomyopathy, dilated, 1Z dilated cardiomyopathy 1Z MONDO:0012746 A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13. CMD2A cardiomyopathy, dilated, type 2A dilated cardiomyopathy type 2A cardiomyopathy, congestive, autosomal recessive cardiomyopathy, dilated, 2A cardiomyopathy, dilated, autosomal recessive dilated cardiomyopathy 2A MONDO:0012747 Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggerd by fever) without hemolytic anemia has recently been reported. https://github.com/monarch-initiative/mondo/issues/4985 GSD due to aldolase A deficiency GSD type 12 GSD type XII glycogen storage disease due to aldolase A deficiency glycogen storage disease type 12 glycogen storage disease type XII glycogenosis due to aldolase A deficiency glycogenosis type 12 glycogenosis type XII Aldoa deficiency GSD 12 GSD12 Red cell aldolase deficiency aldolase a deficiency aldolase deficiency red cell aldolase deficiency, Red cell glycogen storage disease 12 glycogen storage disease XII glycogen storage disease due to aldolase A deficiency MONDO:0012748 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH11 gene. CILD7 DNAH11 primary ciliary dyskinesia ciliary dyskinesia, primary, type 7 primary ciliary dyskinesia 7 primary ciliary dyskinesia 7 with or without situs inversus primary ciliary dyskinesia caused by mutation in DNAH11 primary ciliary dyskinesia type 7 ciliary dyskinesia, primary, 7 ciliary dyskinesia, primary, 7, with or without situs inversus primary ciliary dyskinesia 7 MONDO:0012749 mesomelic dysplasia, camera type mesomelic dysplasia, camera type MONDO:0012750 https://github.com/monarch-initiative/mondo/issues/4521 LAAHD Vuopala disease congenital arthrogryposis with anterior horn cell disease lethal arthrogryposis with anterior horn cell disease lethal arthrogryposis-anterior horn cell disease syndrome MONDO:0012751 https://github.com/monarch-initiative/mondo/issues/4521 AAA3 aneurysm, familial abdominal 3 aortic aneurysm, familial abdominal, 3 aortic aneurysm, familial abdominal, 3 MONDO:0012752 ANIB6 aneurysm, intracranial BERRY, 6 aneurysm, intracranial berry, 6 MONDO:0012753 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ANG gene. ALS9 ANG amyotrophic lateral sclerosis amyotrophic lateral sclerosis 9 amyotrophic lateral sclerosis caused by mutation in ANG amyotrophic lateral sclerosis type 9 amyotrophic lateral sclerosis type 9 https://rarediseases.info.nih.gov/diseases/10498/amyotrophic-lateral-sclerosis-type-9 MONDO:0012754 NNO3 nanophthalmos 3 Nanophthalmia 3 nanophthalmos 3 MONDO:0012755 Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings. EA7 episodic ataxia, type 7 episodic ataxia type 7 MONDO:0012756 A chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity. https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/4521 autism susceptibility 14A chromosome 16p11.2 deletion syndrome, 593kb proximal del(16)(p11.2) proximal monosomy 16p11.2 16p11.2 deletion syndrome Del(16)(p11.2) autism, susceptibility to, 14A chromosome 16p11.2 deletion syndrome chromosome 16p11.2 deletion syndrome, 593-KB microdeletion 16p11.2 monosomy 16p11.2 proximal 16p11.2 microdeletion syndrome https://rarediseases.info.nih.gov/diseases/10740/16p112-deletion-syndrome MONDO:0012757 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterised by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies. immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome MONDO:0012758 Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene. MSMB familial prostate cancer familial prostate cancer caused by mutation in MSMB prostate cancer, hereditary, 13 prostate cancer, hereditary, type 13 HPC13 prostate cancer, hereditary, 13 MONDO:0012759 Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone traveculae, cortical thickening of long bones and delayed bone age. https://github.com/monarch-initiative/mondo/issues/5588 camptodactyly syndrome Guadalajara type 3 camptodactyly syndrome, Guadalajara, type 3 camptodactyly syndrome, Guadalajara, type III camptodactyly syndrome, Guadalajara type 3 https://rarediseases.info.nih.gov/diseases/10573/camptodactyly-syndrome-guadalajara-type-3 MONDO:0012760 https://github.com/monarch-initiative/mondo/issues/2543 EIG5 epilepsy, idiopathic generalized, susceptibility to, 5 epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10 epilepsy, idiopathic generalized, susceptibility to, 5 MONDO:0012761 3q29 microduplication is a chromosomal abnormality associated with variable clinical findings including mild or moderate intellectual deficit and microcephaly. https://github.com/monarch-initiative/mondo/issues/3492 3q29 microduplication 3q29 microduplication syndrome trisomy 3q29 chromosome 3q29 DUPLICATION syndrome microduplication 3Q29 syndrome chromosome 3q29 microduplication syndrome https://rarediseases.info.nih.gov/diseases/10360/chromosome-3q29-microduplication-syndrome MONDO:0012762 Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CASQ2 gene. CASQ2 catecholaminergic polymorphic ventricular tachycardia CVPT2 catecholaminergic polymorphic ventricular tachycardia 2 catecholaminergic polymorphic ventricular tachycardia caused by mutation in CASQ2 catecholaminergic polymorphic ventricular tachycardia type 2 ventricular tachycardia, catecholaminergic polymorphic, type 2 CPVT2 ventricular tachycardia, catecholaminergic polymorphic, 2 ventricular tachycardia, stress-induced polymorphic catecholaminergic polymorphic ventricular tachycardia 2 MONDO:0012763 An inherited susceptibility or predisposition to developing child absence epilepsy or idiopathic generalized epilepsy, in which the cause of the disease is a mutation in the CACNA1H gene. ECA6 epilepsy, childhood absence, susceptibility to, 6 epilepsy, childhood absence, susceptibility to, type 6 susceptibility to childhood absence epilepsy 6 CACNA1H childhood absence epilepsy childhood absence epilepsy caused by mutation in CACNA1H epilepsy, idiopathic generalized, susceptibility to, 6 epilepsy, childhood absence, susceptibility to, 6 MONDO:0012764 An autosomal recessive disease characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature that has material basis in homozygous or compound heterozygous mutation in the RNF168 gene on chromosome 3q29. RIDDLE syndrome RNF168 deficiency radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties RIDDLE syndrome MONDO:0012765 LMPH1B lymphedema, hereditary, 1B lymphatic malformation 2 MONDO:0012766 Autosomal dominant spastic paraplegia type 37 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients. SPG37 autosomal dominant spastic paraplegia 37 autosomal dominant spastic paraplegia type 37 hereditary spastic paraplegia type 37 spastic paraplegia 37, autosomal dominant hereditary spastic paraplegia 37 MONDO:0012767 Any age-related macular degeneration in which the cause of the disease is a mutation in the CST3 gene. ARMD11 CST3 age-related macular degeneration age related macular degeneration type 11 age-related macular degeneration caused by mutation in CST3 macular Degeneration, age-related, type 11 macular degeneration, age-related, 11 age related macular degeneration 11 MONDO:0012768 HPC11 prostate cancer, hereditary, 11 prostate cancer, hereditary, 11 MONDO:0012769 HPC14 prostate cancer, hereditary, 14 prostate cancer, hereditary, 14 MONDO:0012770 HPC15 prostate cancer, hereditary, 15 prostate cancer, hereditary, 15 MONDO:0012771 Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the CHI3L1 gene. CHI3L1 inherited susceptibility to asthma asthma-related traits, susceptibility to, 7 asthma-related traits, susceptibility to, type 7 inherited susceptibility to asthma caused by mutation in CHI3L1 ASRT7 asthma-RELATED traits, susceptibility to, 7 asthma-related traits, susceptibility to, 7 MONDO:0012772 Stevenson-Carey syndrome Stevenson-Carey syndrome MONDO:0012773 Hunter-Macdonald syndrome Hunter-Macdonald syndrome MONDO:0012774 15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features. https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/5588 15q13.3 microdeletion syndrome Del(15)(q13.3) chromosome 15q13.3 microdeletion syndrome monosomy 15q13.3 15q13.3 microdeletion chromosome 15q13.3 deletion syndrome microdeletion 15q13.3 syndrome chromosome 15q13.3 microdeletion syndrome MONDO:0012775 Any thrombocytopenia in which the cause of the disease is a mutation in the CYCS gene. CYCS thrombocytopenia thrombocytopenia 4 thrombocytopenia caused by mutation in CYCS thrombocytopenia type 4 THC4 thrombocytopenia, autosomal dominant, 4 thrombocytopenia 4 MONDO:0012776 https://github.com/monarch-initiative/mondo/issues/4882 CELIAC7 celiac disease, susceptibility to, 7 gluten-sensitive enteropathy, susceptibility to, 7 celiac disease, susceptibility to, 7 MONDO:0012777 https://github.com/monarch-initiative/mondo/issues/4882 CELIAC8 celiac disease, susceptibility to, 8 gluten-sensitive enteropathy, susceptibility to, 8 celiac disease, susceptibility to, 8 MONDO:0012778 https://github.com/monarch-initiative/mondo/issues/4882 CELIAC9 celiac disease, susceptibility to, 9 gluten-sensitive enteropathy, susceptibility to, 9 celiac disease, susceptibility to, 9 MONDO:0012779 https://github.com/monarch-initiative/mondo/issues/4882 CELIAC10 celiac disease, susceptibility to, 10 gluten-sensitive enteropathy, susceptibility to, 10 celiac disease, susceptibility to, 10 MONDO:0012780 https://github.com/monarch-initiative/mondo/issues/4882 CELIAC11 celiac disease, susceptibility to, 11 gluten-sensitive enteropathy, susceptibility to, 11 celiac disease, susceptibility to, 11 MONDO:0012781 https://github.com/monarch-initiative/mondo/issues/4882 CELIAC12 celiac disease, susceptibility to, 12 gluten-sensitive enteropathy, susceptibility to, 12 celiac disease, susceptibility to, 12 MONDO:0012782 https://github.com/monarch-initiative/mondo/issues/4882 CELIAC13 celiac disease, susceptibility to, 13 gluten-sensitive enteropathy, susceptibility to, 13 celiac disease, susceptibility to, 13 MONDO:0012783 RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1). CDG syndrome type In CDG-In CDG1N Man5GlcNAc2-PP-Dol flippase deficiency RFT1-CDG RFT1-congenital disorder of glycosylation carbohydrate deficient glycoprotein syndrome type In congenital disorder of glycosylation type 1n congenital disorder of glycosylation type In CDG in CDGIN RFT1-CDG (CDG-In) congenital disorder of glycosylation, type In RFT1-congenital disorder of glycosylation MONDO:0012784 This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy. ARCA2 SCAR9 autosomal recessive ataxia due to coenzyme Q10 deficiency autosomal recessive cerebellar ataxia type 2 autosomal recessive spinocerebellar ataxia type 9 coenzyme Q10 deficiency, primary, type 4 COQ10D4 autosomal recessive spinocerebellar ataxia 9 coenzyme Q10 deficiency, primary, 4 spinocerebellar ataxia, autosomal recessive 9 autosomal recessive ataxia due to ubiquinone deficiency MONDO:0012785 IHPS3 pyloric stenosis, infantile hypertrophic, 3 pyloric stenosis, infantile hypertrophic, 3 MONDO:0012786 Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. https://github.com/monarch-initiative/mondo/issues/4521 cataract 47, juvenile, with microcornea juvenile cataract-microcornea-renal glucosuria syndrome CJMG CTRCT47 cataract 47 cataract, juvenile, with microcornea cataract, juvenile, with microcornea and glucosuria cataract, juvenile, with microcornea and glucosuria, formerly juvenile cataract-microcornea-renal glucosuria syndrome MONDO:0012787 This syndrome is characterised by progressive spastic paraplegia and distal muscle wasting. NTE-related motor neuron disorder NTEMND PNPLA6 hereditary spastic paraplegia SPG39 autosomal recessive spastic paraplegia 39 autosomal recessive spastic paraplegia type 39 hereditary spastic paraplegia caused by mutation in PNPLA6 hereditary spastic paraplegia type 39 spastic paraplegia due to NTE mutation spastic paraplegia due to neuropathy target esterase mutation NTE related motor neuron disorder spastic paraplegia 39 spastic paraplegia 39, autosomal recessive hereditary spastic paraplegia 39 MONDO:0012788 https://github.com/monarch-initiative/mondo/issues/4882 CHDS9 coronary heart disease, susceptibility to, 9 coronary heart disease, susceptibility to, 9 MONDO:0012789 Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism. DYT-PRKRA DYT16 PRKRA dystonic disorder dystonia 16 dystonia type 16 dystonic disorder caused by mutation in PRKRA early-onset dystonia parkinsonism Young-onset dystonia-(parkinsonism) dystonia 16 https://rarediseases.info.nih.gov/diseases/10539/dystonia-16 MONDO:0012790 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TARDBP gene. https://github.com/monarch-initiative/mondo/issues/4521 ALS10 TARDBP amyotrophic lateral sclerosis TARDBP-related frontotemporal lobar degeneration with Tdp43 inclusions amyotrophic lateral sclerosis 10 amyotrophic lateral sclerosis 10, with or without FTD amyotrophic lateral sclerosis 10, with or without frontotemporal dementia amyotrophic lateral sclerosis caused by mutation in TARDBP amyotrophic lateral sclerosis type 10 frontotemporal lobar degeneration, TARDBP-related Ftld-TDP, Tardbp-related amyotrophic lateral sclerosis 10 with or without frontotemporal dementia frontotemporal dementia with Tdp43 inclusions, Tardbp-related frontotemporal lobar Degeneration with Tdp43 inclusions, Tardbp-related amyotrophic lateral sclerosis type 10 https://rarediseases.info.nih.gov/diseases/10497/amyotrophic-lateral-sclerosis-type-10 MONDO:0012791 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterised by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA. booth-Haworth-Dilling syndrome mitochondrial DNA depletion syndrome 5 mitochondrial DNA depletion syndrome type 5 mitochondrial encephalomyopathy-aminoacidopathy syndrome mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria MTDPS5 encephalomyopathy mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) mitochondrial DNA depletion syndrome, encephalomyopathic form, with or without methylmalonic aciduria, autosomal recessive, Sucla2-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive mitochondrial encephalomyopathy aminoacidopathy mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria https://rarediseases.info.nih.gov/diseases/3681/encephalomyopathy MONDO:0012792 Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the RRM2B gene. RRM2B mitochondrial DNA depletion syndrome mitochondrial DNA depletion syndrome caused by mutation in RRM2B mitochondrial DNA depletion syndrome type 8a mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy MTDPS8A Mngie, Rrm2B-related RRM2B-related mitochondrial DNA depletion syndrome encephalomyopathic type with renal tubulopathy mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) mitochondrial DNA depletion syndrome 8B (Mngie type) mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy mitochondrial DNA depletion syndrome, encephalomyopathic, with renal tubulopathy, autosomal recessive mitochondrial neurogastrointestinal encephalopathy syndrome, Rrm2B-related mitochondrial DNA depletion syndrome 8a MONDO:0012793 https://github.com/monarch-initiative/mondo/issues/4521 hypouricemia, renal, 2 hypouricemia, renal, type 2 uric acid concentration, serum, QTL 2 RHUC2 gout susceptibility 2 uric acid concentration, serum, quantitative trait locus 2 hypouricemia, renal, 2 MONDO:0012794 ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis. https://github.com/monarch-initiative/mondo/issues/5588 ANE syndrome alopecia-progressive neurological defect-endocrinopathy syndrome alopecia, neurologic defects, and endocrinopathy syndrome anes ANE syndrome MONDO:0012795 hypophosphatemic rickets and hyperparathyroidism hypophosphatemic rickets and hyperparathyroidism MONDO:0012796 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PROM1 gene. PROM1 retinitis pigmentosa RP41 retinitis pigmentosa 41 retinitis pigmentosa caused by mutation in PROM1 retinitis pigmentosa type 41 RP 41 retinal Degeneration, autosomal recessive, prominin-related retinitis pigmentosa 41 https://rarediseases.info.nih.gov/diseases/10379/retinitis-pigmentosa-41 MONDO:0012797 OTSC8 otosclerosis 8 otosclerosis 8 MONDO:0012798 deafness, unilateral, with delayed endolymphatic hydrops deafness, unilateral, with delayed endolymphatic hydrops MONDO:0012799 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene. https://github.com/monarch-initiative/mondo/issues/4521 ACTC1 hypertrophic cardiomyopathy CMH11 cardiomyopathy familial hypertrophic 11 cardiomyopathy, familial hypertrophic, type 11 cardiomyopathy, hypertrophic, 11 hypertrophic cardiomyopathy 11 hypertrophic cardiomyopathy caused by mutation in ACTC1 hypertrophic cardiomyopathy type 11 cardiomyopathy, familial hypertrophic, 11 hypertrophic cardiomyopathy 11 MONDO:0012800 trichoepithelioma, multiple familial, 2 trichoepithelioma, multiple familial, type 2 Mft2 multiple familial trichoepithelioma 2 trichoepithelioma multiple familial 2 trichoepithelioma, multiple familial, 2 https://rarediseases.info.nih.gov/diseases/10373/multiple-familial-trichoepithelioma-2 MONDO:0012801 https://github.com/monarch-initiative/mondo/issues/4521 autism susceptibility 15 autism, susceptibility to, 15 autism, susceptibility to, type 15 AUTS15 susceptibility to autism 15 autism, susceptibility to, 15 MONDO:0012802 Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy), and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisure, abnormal bridge connecting the crus of the helix and the anthelix, narrow external acoustic meatus, and lobule aplasia). oculoauricular syndrome OCACS Schorderet-Munier-Franceschetti syndrome microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, Rod-cone dystrophy, and anomalies of the external Ear oculoauricular syndrome, Schorderet type oculoauricular syndrome MONDO:0012803 This syndrome is characterised by diarrhoea and vomiting after ingestion of trehalose, a disaccharide found mainly in mushrooms. https://github.com/monarch-initiative/mondo/issues/4985 isolated trehalose intolerance trehalase deficiency trehalose intolerance diarrhea-vomiting due to trehalase deficiency MONDO:0012804 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene. https://github.com/monarch-initiative/mondo/issues/4521 CMH12 CSRP3 hypertrophic cardiomyopathy cardiomyopathy familial hypertrophic 12 cardiomyopathy, familial hypertrophic, type 12 cardiomyopathy, hypertrophic, 12 hypertrophic cardiomyopathy 12 hypertrophic cardiomyopathy caused by mutation in CSRP3 hypertrophic cardiomyopathy type 12 cardiomyopathy, familial hypertrophic, 12 hypertrophic cardiomyopathy 12 MONDO:0012805 A form of paroxysmal dyskinesia, characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4985 DYT18 GLUT1 deficiency syndrome 2, childhood onset GLUT1 deficiency syndrome type 2 PxMD-SLC2A1 childhood onset GLUT1 deficiency syndrome 2 childhood onset GLUT1 deficiency syndrome type 2 dystonia 18 paroxysmal exercise-induced dystonia ped DYT-SLC2A1 GLUT1 deficiency syndrome 2 GLUT1DS2 paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic Anemia paroxysmal exertion-induced dyskinesia paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic Anemia ped with or without epilepsy and/or hemolytic Anemia childhood onset GLUT1 deficiency syndrome 2 MONDO:0012806 EPAID2 ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant ectodermal dysplasia and immunodeficiency 2 MONDO:0012807 A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia. https://github.com/monarch-initiative/mondo/issues/4499 https://github.com/monarch-initiative/mondo/issues/4521 EBS-PA epidermolysis bullosa simplex 5C, with pyloric atresia epidermolysis bullosa simplex with pyloric atresia EBS with pyloric atresia EBSPA epidermolysis bullosa simplex 5C, with pyloric atresia MONDO:0012808 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTN2 gene. https://github.com/monarch-initiative/mondo/issues/4521 ACTN2 familial isolated dilated cardiomyopathy CMD1AA cardiomyopathy, dilated, 1AA, with or without LVNC cardiomyopathy, hypertrophic, 23, with or without LVNC dilated cardiomyopathy 1AA with or without left ventricular noncompaction dilated cardiomyopathy type 1AA familial isolated dilated cardiomyopathy caused by mutation in ACTN2 cardiomyopathy, dilated, 1AA, with or without left ventricular noncompaction cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction dilated cardiomyopathy 1AA MONDO:0012809 A low malignant potential soft tissue neoplasm of uncertain differentiation. It typically affects young patients, presenting as a slowly growing nodular or cystic tumor mass, most often in the subcutaneous tissues of the extremities. Occasionally, patients have systemic symptoms (anemia, fever, and weight loss). This tumor has a relatively good prognosis. A minority of patients develop local recurrences. Metastases are rare. https://github.com/monarch-initiative/mondo/issues/4521 AFH angiomatoid fibrous histiocytoma angiomatoid malignant fibrous histiocytoma histiocytoma, Angiomatoid fibrous histiocytoma, angiomatoid fibrous, somatic histiocytoma, Angiomatoid fibrous MONDO:0012810 ANIB7 aneurysm, intracranial BERRY, 7 aneurysm, intracranial berry, 7 MONDO:0012811 ANIB8 aneurysm, intracranial BERRY, 8 aneurysm, intracranial berry, 8 MONDO:0012812 Early infantile epileptic encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy, which refers to a group of neurological conditions characterized by severe seizures beginning in infancy. EIEE4, specifically, is often associated with partial complex or tonic-clonic seizures, although other seizure types have been reported. Other signs and symptoms mayinclude intellectual disability, reduced muscle tone (hypotonia), hypsarrhythmia (an irregular pattern seen on EEG), dyskinesia (involuntary movement of the body), and spastic di- or quadriplegia. EIEE4 is caused by changes (mutations) in the STXBP1 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. For example, certain medications are often prescribed to help control seizures, although they are not always effective in all people with the condition. https://github.com/monarch-initiative/mondo/issues/4521 DEE4 EIEE4 STXBP1 early infantile epileptic encephalopathy STXBP1-related encephalopathy developmental and epileptic encephalopathy 4 developmental and epileptic encephalopathy, 4 early infantile epileptic encephalopathy 4 early infantile epileptic encephalopathy caused by mutation in STXBP1 epileptic encephalopathy, early infantile, 4 epileptic encephalopathy, early infantile, type 4 STXBP1-related early-onset encephalopathy developmental and epileptic encephalopathy, 4 https://rarediseases.info.nih.gov/diseases/12900/early-infantile-epileptic-encephalopathy-4 MONDO:0012813 A retinitis pigmentosa that has material basis in variation in the chromosome region 4q32-q34. RP29 retinitis pigmentosa 29 retinitis pigmentosa type 29 RP 29 retinitis pigmentosa 29 https://rarediseases.info.nih.gov/diseases/10378/retinitis-pigmentosa-29 MONDO:0012814 diastasis recti and weakness of the linea alba diastasis recti and weakness of the linea alba MONDO:0012815 Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease. CRMCC cerebroretinal microangiopathy with calcfications and cysts cerebroretinal microangiopathy with calcifications and cysts Coats plus syndrome MONDO:0012816 Any familial atrial fibrillation in which the cause of the disease is a mutation in the NPPA gene. NPPA familial atrial fibrillation atrial fibrillation, familial, 6 atrial fibrillation, familial, type 6 familial atrial fibrillation caused by mutation in NPPA ATFB6 atrial fibrillation, familial, 6 MONDO:0012817 A small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It affects mostly males under age 20, and it can occur in soft tissue or bone. Pain and the presence of a mass are the most common clinical symptoms. https://github.com/monarch-initiative/mondo/issues/4521 ES Ewing sarcoma Ewing's family localized tumor Ewing's sarcoma Ewing's tumor Ewings sarcoma PNET of Thoracopulmonary region Ewing tumor Ewings sarcoma-primitive neuroectodermal tumor localized Ewing sarcoma localized Ewing's sarcoma localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor localized Ewing's tumor localized peripheral primitive neuroectodermal tumor neuroepithelioma neuroepithelioma, peripheral sarcoma, Ewing's Ewing sarcoma MONDO:0012818 Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the PAX4 gene. https://github.com/monarch-initiative/mondo/issues/4521 MODY9 PAX4 maturity-onset diabetes of the young (disease) maturity-onset diabetes of the young (disease) caused by mutation in PAX4 maturity-onset diabetes of the young, type IX MODY PAX4 related MODY type 9 diabetes mellitus MODY type 9 maturity-onset diabetes of the young, type 9 type 9 maturity-onset diabetes of the young maturity-onset diabetes of the young type 9 https://rarediseases.info.nih.gov/diseases/10663/maturity-onset-diabetes-of-the-young-type-9 MONDO:0012819 The metabolic condition resulted from uncontrolled diabetes mellitus, in which the shift of acid-base status of the body toward the acid side because of loss of base or retention of acids other than carbonic acid is accompanied by the accumulation of ketone bodies in body tissues and fluids. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4859 ketosis-prone diabetes mellitus KPD diabetic ketoacidosis MONDO:0012820 Any colorectal cancer in which the cause of the disease is a mutation in the SMAD7 gene. SMAD7 colorectal cancer colorectal cancer caused by mutation in SMAD7 colorectal cancer, susceptibility to, 3 colorectal cancer, susceptibility to, type 3 CRCS3 colorectal cancer, susceptibility to, on chromosome 18 susceptibility to colorectal cancer 3 colorectal cancer, susceptibility to, 3 MONDO:0012821 https://github.com/monarch-initiative/mondo/issues/4882 CRCS5 colorectal cancer, susceptibility to, 5 colorectal cancer, susceptibility to, on chromosome 10 colorectal cancer, susceptibility to, 5 MONDO:0012822 https://github.com/monarch-initiative/mondo/issues/4882 CRCS6 colorectal cancer, susceptibility to, 6 colorectal cancer, susceptibility to, on chromosome 8Q23 colorectal cancer, susceptibility to, 6 MONDO:0012823 https://github.com/monarch-initiative/mondo/issues/4882 CRCS7 colorectal cancer, susceptibility to, 7 colorectal cancer, susceptibility to, on chromosome 11 colorectal cancer, susceptibility to, 7 MONDO:0012824 Any leukodystrophy in which the cause of the disease is a mutation in the HSPD1 gene. HLD4 HSPD1 leukodystrophy MitCHAP60 disease Pelizaeus-Merzbacher-like disease due to HSPD1 mutation hypomyelinating leukodystrophy type 4 leukodystrophy caused by mutation in HSPD1 leukodystrophy, hypomyelinating, type 4 mitochondrial HSP60 chaperonopathy Mitchap60 disease leukodystrophy, hypomyelinating, 4 mitochondrial Hsp60 chaperonopathy hypomyelinating leukodystrophy 4 MONDO:0012825 A rare malignant soft tissue neoplasm of uncertain differentiation, characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern. The most common sites of involvement are the deep soft tissues of the extremities, particularly the thigh. It usually presents as an enlarging soft tissue mass. Patients may have long survivals, but local recurrences and metastases occur in approximately half of the cases. The most common site of metastasis is the lungs. extraosseous chondrosarcoma extraskeletal chondrosarcoma myxoid extraosseous chondrosarcoma myxoid extraskeletal chondrosarcoma EMC chondrosarcoma, extraskeletal myxoid extraskeletal myxoid chondrosarcoma MONDO:0012826 https://github.com/monarch-initiative/mondo/issues/4521 IS4 scoliosis, idiopathic, susceptibility to, 4 scoliosis, isolated, susceptibility to, 4 scoliosis, isolated, susceptibility to, 4 MONDO:0012827 https://github.com/monarch-initiative/mondo/issues/4521 IS5 scoliosis, idiopathic, susceptibility to, 5 scoliosis, isolated, susceptibility to, 5 scoliosis, isolated, susceptibility to, 5 MONDO:0012828 Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNA5 gene. KCNA5 familial atrial fibrillation atrial fibrillation, familial, 7 atrial fibrillation, familial, type 7 familial atrial fibrillation caused by mutation in KCNA5 ATFB7 atrial fibrillation, familial, 7 MONDO:0012829 An inflammatory bowel disease that has material basis in variation in the chromosome region 3p21.3 IBD12 inflammatory bowel disease 12 inflammatory bowel disease type 12 inflammatory bowel disease 12 MONDO:0012830 10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive. https://github.com/monarch-initiative/mondo/issues/3664 Del(10)(q22.3q23.3) chromosome 10q23 deletion syndrome deletion 10q22.3q23.3 monosomy 10q22.3q23.3 10q22.3q23 microdeletion syndrome 10q22.3q23.3 microdeletion syndrome chromosome 10Q22.3-q23.2 deletion syndrome chromosome 10q22.3-q23.2 deletion syndrome juvenile polyposis of infancy juvenile polyposis, infantile chromosome 10q23 deletion syndrome MONDO:0012831 Any inflammatory bowel disease in which the cause of the disease is a mutation in the ABCB1 gene. ABCB1 inflammatory bowel disease IBD13 inflammatory bowel disease 13 inflammatory bowel disease caused by mutation in ABCB1 inflammatory bowel disease type 13 inflammatory bowel disease 13 MONDO:0012832 Any inflammatory bowel disease in which the cause of the disease is a mutation in the IRF5 gene. IBD14 IRF5 inflammatory bowel disease inflammatory bowel disease 14 inflammatory bowel disease caused by mutation in IRF5 inflammatory bowel disease type 14 inflammatory bowel disease 14 MONDO:0012833 Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN). https://github.com/monarch-initiative/mondo/issues/4948 CAN Chronic kidney allograft nephropathy Crouzon-dermoskeletal syndrome Crouzonodermoskeletal syndrome chronic allograft nephropathy Crouzon syndrome with acanthosis nigricans can Crouzon syndrome-acanthosis nigricans syndrome MONDO:0012834 Any systemic lupus erythematosus in which the cause of the disease is a mutation in the IRF5 gene. IRF5 systemic lupus erythematosus (disease) systemic lupus erythematosus (disease) caused by mutation in IRF5 systemic lupus erythematosus, susceptibility to, 10 systemic lupus erythematosus, susceptibility to, type 10 SLEB10 susceptibility to systemic lupus erythematosus 10 systemic lupus erythematosus, susceptibility to, 10 MONDO:0012835 Any systemic lupus erythematosus in which the cause of the disease is a mutation in the STAT4 gene. STAT4 systemic lupus erythematosus (disease) systemic lupus erythematosus (disease) caused by mutation in STAT4 systemic lupus erythematosus, susceptibility to, 11 systemic lupus erythematosus, susceptibility to, type 11 SLEB11 susceptibility to systemic lupus erythematosus 11 systemic lupus erythematosus, susceptibility to, 11 MONDO:0012836 SLEB12 systemic lupus erythematosus, susceptibility to, 12 systemic lupus erythematosus, susceptibility to, 12 MONDO:0012837 An inflammatory bowel disease that has material basis in variation in the chromosome region 10q21. IBD15 inflammatory bowel disease 15 inflammatory bowel disease type 15 inflammatory bowel disease 15 MONDO:0012838 An inflammatory bowel disease that has material basis in variation in the chromosome region 9q32. IBD16 inflammatory bowel disease 16 inflammatory bowel disease type 16 inflammatory bowel disease 16 MONDO:0012839 Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease. https://github.com/monarch-initiative/mondo/issues/4521 MYD88D MyD88 deficiency immunodeficiency 68 pyogenic bacterial infections, recurrent, due to MyD88 deficiency recurrent pyogenic bacterial infections due to MyD88 deficiency pyogenic bacterial infections due to MyD88 deficiency MONDO:0012840 Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL23R gene. https://github.com/monarch-initiative/mondo/issues/4521 IBD17 IL23R inflammatory bowel disease inflammatory bowel disease 17 inflammatory bowel disease 17, protection against inflammatory bowel disease caused by mutation in IL23R inflammatory bowel disease type 17 inflammatory bowel disease 17 MONDO:0012841 An inflammatory bowel disease that has material basis in variation in the chromosome region 5p13.1. IBD18 inflammatory bowel disease 18 inflammatory bowel disease type 18 inflammatory bowel disease 18 MONDO:0012842 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 CMM7 melanoma, cutaneous malignant, 7 melanoma, cutaneous malignant, susceptibility to, 7 melanoma, cutaneous malignant, susceptibility to, 7 MONDO:0012843 Any childhood absence epilepsy in which the cause of the disease is a mutation in the GABRB3 gene. ECA5 childhood absence epilepsy caused by mutation in GABRB3 epilepsy, childhood absence, susceptibility to, 5 epilepsy, childhood absence, susceptibility to, type 5 susceptibility to childhood absence epilepsy 5 GABRB3 childhood absence epilepsy epilepsy, childhood absence, susceptibility to, 5 MONDO:0012844 A primary ciliary dyskinesia that has material basis in variation in the chromosome region 15q24-q25. CILD8 primary ciliary dyskinesia 8 with or without situs inversus primary ciliary dyskinesia type 8 ciliary dyskinesia, primary, 8 ciliary dyskinesia, primary, 8, with or without situs inversus primary ciliary dyskinesia 8 MONDO:0012845 Any inflammatory bowel disease in which the cause of the disease is a mutation in the IRGM gene. IBD19 IRGM inflammatory bowel disease inflammatory bowel disease (Crohn disease) 19 inflammatory bowel disease 19 inflammatory bowel disease caused by mutation in IRGM inflammatory bowel disease type 19 inflammatory bowel disease 19 MONDO:0012846 GEFSP6 generalized epilepsy with febrile seizures plus, type 6 Gefs+, type 6 generalized epilepsy with febrile seizures plus, type 6 MONDO:0012847 Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the NIPAL4 gene. https://github.com/monarch-initiative/mondo/issues/4069 ARCI6 autosomal recessive congenital ichthyosis type 6 ichthyosis, congenital, autosomal recessive type 6 ichthyosis, congenital, autosomal recessive 6 ichthyosis, congenital, autosomal recessive, Nipal4-related autosomal recessive congenital ichthyosis 6 MONDO:0012848 Any Meckel syndrome in which the cause of the disease is a mutation in the CC2D2A gene. https://github.com/monarch-initiative/mondo/issues/4948 CC2D2A Meckel syndrome MKS6 Meckel syndrome caused by mutation in CC2D2A Meckel syndrome, type 6 Meckel-Gruber syndrome, type 6 Meckel syndrome 6 Meckel syndrome, type 6 MONDO:0012849 Any Joubert syndrome in which the cause of the disease is a mutation in the CC2D2A gene. CC2D2A Joubert syndrome JBTS9 Joubert syndrome 9 Joubert syndrome caused by mutation in CC2D2A Joubert syndrome type 9 Joubert syndrome 9/15, digenic Joubert syndrome 9 MONDO:0012850 hypophosphatemic nephrolithiasis/osteoporosis type 1 nephrolithiasis/osteoporosis, hypophosphatemic, type 1 NPHLOP1 nephrolithiasis/osteoporosis, hypophosphatemic, 1 hypophosphatemic nephrolithiasis/osteoporosis 1 MONDO:0012851 hypophosphatemic nephrolithiasis/osteoporosis type 2 nephrolithiasis/osteoporosis, hypophosphatemic, type 2 NPHLOP2 nephrolithiasis/osteoporosis, hypophosphatemic, 2 hypophosphatemic nephrolithiasis/osteoporosis 2 MONDO:0012852 An inflammatory bowel disease that has material basis in variation in the chromosome region 10q23-q24. IBD20 inflammatory bowel disease 20 inflammatory bowel disease type 20 inflammatory bowel disease 20 MONDO:0012853 A rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated. FPS Fontaine progeroid syndrome GCM syndrome GCMS Gorlin Chaudhry Moss syndrome Gorlin-Chaudhry-Moss syndrome Petty syndrome Petty-Laxova-Wiedemann syndrome craniofacial dysostosis, hypertrichosis, Hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora craniofacial dysostosis-genital, dental, cardiac anomalies syndrome cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome dental and eye anomalies, patent ductus arteriosus, and normal intelligence dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome progeroid syndrome Petty type progeroid syndrome congenital Petty type progeroid syndrome, Petty type progeroid syndrome, congenital, Petty type Petty Laxova Wiedemann syndrome craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies Fontaine progeroid syndrome https://rarediseases.info.nih.gov/diseases/4497/progeroid-syndrome-petty-type MONDO:0012854 This syndrome is characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate. https://github.com/monarch-initiative/mondo/issues/4521 microtia with or without hearing impairment (AD) microtia, hearing impairment, and cleft palate (AR) microtia with or without hearing impairment microtia, hearing impairment, and cleft palate bilateral microtia-deafness-cleft palate syndrome MONDO:0012855 Any Joubert syndrome in which the cause of the disease is a mutation in the ARL13B gene. ARL13B Joubert syndrome JBTS8 Joubert syndrome 8 Joubert syndrome caused by mutation in ARL13B Joubert syndrome type 8 Joubert syndrome 8 MONDO:0012856 Birk-Barel syndrome is an inherited condition characterized by intellectual disability, hypotonia, hyperactivity, and unusual facial features. The condition is caused by mutations in the KCNK9 gene on chromosome 8. This condition demonstrates dominant inheritance with paternal imprinting, which means that a mutation in the maternal gene will result in disease, but a mutation in the paternal gene will have no effect (imprinted with paternal silencing). https://github.com/monarch-initiative/mondo/issues/5588 BIRK-Barel intellectual disability dysmorphism syndrome BIRK-Barel mental retardation dysmorphism syndrome Birk-Barel syndrome intellectual disability-hypotonia-facial dysmorphism syndrome Birk Barel intellectual disability dysmorphism syndrome Birk Barel mental retardation dysmorphism syndrome intellectual disability with hypotonia and Facial Dysmorphism intellectual disability, Birk-Barel type mental retardation with hypotonia and Facial Dysmorphism Birk-Barel syndrome https://rarediseases.info.nih.gov/diseases/10358/birk-barel-syndrome MONDO:0012857 https://github.com/monarch-initiative/mondo/issues/4521 POROK5 porokeratosis 5, disseminated superficial actinic porokeratosis 5, disseminated superficial actinic type porokeratosis, disseminated superficial actinic, 3 porokeratosis 5, disseminated superficial actinic type MONDO:0012858 primary CD59 deficiency CD59 deficiency HACD59 hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy primary CD59 deficiency MONDO:0012859 Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFRS11A gene. https://github.com/monarch-initiative/mondo/issues/4948 OPTB7 TNFRSF11A osteopetrosis (disease) autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia autosomal recessive osteopetrosis type 7 osteoclast-poor osteopetrosis with hypogammaglobulinemia osteopetrosis (disease) caused by mutation in TNFRSF11A osteopetrosis, autosomal recessive type 7 osteopetrosis-hypogammaglobulinemia syndrome osteopetrosis autosomal recessive 7 osteopetrosis osteoclast-poor with hypogammaglobulinemia osteopetrosis, autosomal recessive 7 osteopetrosis, osteoclast-poor, with hypogammaglobulinemia autosomal recessive osteopetrosis 7 https://rarediseases.info.nih.gov/diseases/10106/osteopetrosis-autosomal-recessive-7 MONDO:0012860 https://github.com/monarch-initiative/mondo/issues/4521 thrombophilia 3 due to protein C deficiency, autosomal recessive thrombophilia due to protein C deficiency, autosomal recessive Proc deficiency, autosomal recessive Protein C deficiency, autosomal recessive THPH4 autosomal recessive hereditary thrombophilia due to protein C deficiency autosomal recessive protein C deficiency hereditary thrombophilia due to PC deficiency hereditary thrombophilia due to congenital protein C deficiency thrombophilia due to PROTEIN C deficiency, autosomal recessive thrombophilia due to protein C deficiency, autosomal recessive MONDO:0012861 Any primary ovarian failure in which the cause of the disease is a mutation in the FIGLA gene. FIGLA primary ovarian failure premature ovarian failure 6 premature ovarian failure type 6 primary ovarian failure caused by mutation in FIGLA Pof6 premature ovarian failure 6 MONDO:0012862 https://github.com/monarch-initiative/mondo/issues/4882 ADHD5 attention Deficit-hyperactivity disorder, susceptibility to, type 5 attention deficit-hyperactivity disorder, susceptibility to, 5 motor timing quantitative trait locus attention deficit-hyperactivity disorder, susceptibility to, 5 MONDO:0012863 https://github.com/monarch-initiative/mondo/issues/4882 ADHD6 attention Deficit-hyperactivity disorder, susceptibility to, type 6 attention deficit-hyperactivity disorder, susceptibility to, 6 digit span quantitative trait locus attention deficit-hyperactivity disorder, susceptibility to, 6 MONDO:0012864 2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features. https://github.com/monarch-initiative/mondo/issues/3664 2q32-q33 microdeletion syndrome 2q32q33 microdeletion syndrome Del(2)(q32) Del(2)(q32q33) chromosome 2q32-q33 deletion syndrome glass syndrome monosomy 2q32 monosomy 2q32-q33 monosomy 2q32q33 2q32q33 microdeletion syndromes SAS SATB2 syndrome SATB2-associated syndrome glass chromosome 2q32-q33 deletion syndrome MONDO:0012865 https://github.com/monarch-initiative/mondo/issues/4521 Pseudofolliculitis barbae PFB ingrown hairs pili Incarnati pseudofolliculitis barbae, susceptibility to Pseudofolliculitis barbae MONDO:0012866 Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging. FA2H hereditary spastic paraplegia SPG35 autosomal recessive spastic paraplegia 35 autosomal recessive spastic paraplegia type 35 hereditary spastic paraplegia 35 hereditary spastic paraplegia caused by mutation in FA2H hereditary spastic paraplegia type 35 leukodystrophy, dysmyelinating and spastic paraparesis with or without dystonia leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia spastic paraplegia 35, autosomal recessive hereditary spastic paraplegia 35 MONDO:0012867 A hereditary spastic paraplegia that has material basis in variation in the chromosome region 4p16-p15. SPG38 autosomal dominant spastic paraplegia 38 autosomal dominant spastic paraplegia type 38 hereditary spastic paraplegia type 38 spastic paraplegia 38, autosomal dominant hereditary spastic paraplegia 38 MONDO:0012868 Autosomal dominant form of hereditary thrombophilia due to congenital protein S deficiency. https://github.com/monarch-initiative/mondo/issues/4521 autosomal dominant hereditary thrombophilia due to congenital protein S deficiency hereditary thrombophilia due to congenital protein S deficiency, autosomal dominant thrombophilia 5 due to protein S deficiency, autosomal dominant thrombophilia due to protein S deficiency, autosomal dominant THPH5 protein S acquired deficiency Note that ORDO appears to classify as hereditary and acquired. thrombophilia due to protein S deficiency, autosomal dominant MONDO:0012869 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZBTB18 gene. MRD22 ZBTB18 autosomal dominant non-syndromic intellectual disability autosomal dominant intellectual disability 22 autosomal dominant mental retardation 22 autosomal dominant non-syndromic intellectual disability caused by mutation in ZBTB18 intellectual disability, autosomal dominant 22 intellectual disability, autosomal dominant type 22 mental retardation, autosomal dominant type 22 autosomal dominant non-syndromic intellectual disability 22 chromosome 1Q43-q44 deletion syndrome chromosome 1Qter deletion syndrome mental retardation, autosomal dominant 22 intellectual disability, autosomal dominant 22 MONDO:0012870 https://github.com/monarch-initiative/mondo/issues/3664 chromosome 2q31.2 deletion syndrome chromosome 2q31.2 deletion syndrome MONDO:0012871 Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNE1 gene. Jervell and Lange-Nielsen syndrome 2 Jervell and Lange-Nielsen syndrome caused by mutation in KCNE1 Jervell and Lange-Nielsen syndrome type 2 KCNE1 Jervell and Lange-Nielsen syndrome JLNS2 Jervell and Lange-Nielsen syndrome 2 https://rarediseases.info.nih.gov/diseases/10364/jervell-and-lange-nielsen-syndrome-2 MONDO:0012872 https://github.com/monarch-initiative/mondo/issues/4521 THPH9 hyperfibrinolysis, familial, due to increased release of plat thrombophilia, familial, due to decreased release of PLAT thrombophilia, familial, due to decreased release of tissue plasminogen activator hyperfibrinolysis, familial, due to increased release of tissue plasminogen activator thrombophilia, familial, due to decreased release of tissue plasminogen activator MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers. https://github.com/monarch-initiative/mondo/issues/4948 EDS, spondylocheirodysplastic type EDSSPD3 Ehlers-Danlos syndrome, spondylodysplastic type, 3 SCD-EDS spondylocheirodysplasia, Ehlers-Danlos syndrome-like Ehlers-Danlos syndrome, spondylocheirodysplastic type MONDO:0012874 POROK6 porokeratosis 6, disseminated superficial actinic type porokeratosis 6, disseminated superficial porokeratosis 6, multiple types porokeratosis, disseminated superficial actinic, 4 porokeratosis 6, disseminated superficial actinic type MONDO:0012875 An inflammatory bowel disease that has material basis in variation in the chromosome region 18p11. IBD21 inflammatory bowel disease 21 inflammatory bowel disease type 21 inflammatory bowel disease 21 MONDO:0012876 https://github.com/monarch-initiative/mondo/issues/4521 heparin cofactor 2 deficiency thrombophilia 10 due to heparin cofactor II deficiency Hcf 2 deficiency Hcf2 deficiency heparin cofactor II deficiency thrombophilia due to heparin cofactor 2 deficiency heparin cofactor 2 deficiency MONDO:0012877 https://github.com/monarch-initiative/mondo/issues/4521 MAFD8 major affective disorder 8 major affective disorder-8, susceptibility to MAJOR affective disorder 8 bipolar affective disorder major affective disorder 8 MONDO:0012878 Any Cowden disease in which the cause of the disease is a mutation in the SDHB gene. Cowden disease caused by mutation in SDHB Cowden syndrome 2 Cowden syndrome type 2 SDHB Cowden disease CWS2 Cowden syndrome 2 MONDO:0012879 A schizophrenia that has material basis in a mutation on chromosome 2q32.1. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 SCZD14 schizophrenia 14 schizophrenia type 14 schizophrenia, susceptibility to, 14 Sczd14 schizophrenia susceptibility locus, chromosome 2Q32-related schizophrenia 14 MONDO:0012880 Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the CHD7 gene. CHD7 hypogonadotropic hypogonadism hypogonadotropic hypogonadism 5 with or without anosmia hypogonadotropic hypogonadism caused by mutation in CHD7 KAL5 HH5 Kallmann syndrome 5 hypogonadotropic hypogonadism 5 with or without anosmia https://rarediseases.info.nih.gov/diseases/10773/kallmann-syndrome-5 MONDO:0012881 https://github.com/monarch-initiative/mondo/issues/4521 major affective disorder 7 major affective disorder type 7 major affective disorder-7, susceptibility to MAFD7 bipolar affective disorder major affective disorder 7 MONDO:0012882 https://github.com/monarch-initiative/mondo/issues/4521 MAFD9 major affective disorder 9 major affective disorder-9, susceptibility to MAJOR affective disorder 9 bipolar affective disorder major affective disorder 9 MONDO:0012883 An aggressive form of acute myeloid leukemia (AML), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells. APL manifests with easy bruising, hemorrhagic diathesis and fatigue. https://github.com/monarch-initiative/mondo/issues/4521 AML M3 AML with t(15;17)(q22;q12) AML with t(15;17)(q22;q12);(PML/RARalpha) and variants APL APML APML - acute promyelocytic leukemia FAB M3 acute myeloblastic leukemia 3 acute myeloblastic leukemia type 3 acute myeloid leukemia M3 acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants acute promyelocytic leukemia acute promyelocytic leukemia with PML-rara acute promyelocytic leukemia with t(15;17)(q22;q12); PML-rara acute promyelocytic leukemia with t(15;17)(q22;q12); PML/rara leukemia, acute promyelocytic, somatic promyelocytic leukemia leukemia, acute promyelocytic acute promyelocytic leukemia MONDO:0012884 SLEB13 systemic lupus erythematosus, susceptibility to, 13 systemic lupus erythematosus, susceptibility to, 13 MONDO:0012885 A rare, non X-linked congenital disorder of gyclosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation. https://github.com/monarch-initiative/mondo/issues/5682 CDG syndrome type Iq CDG-Iq CDG1Q SRD5A3-CDG SRD5A3-congenital disorder of glycosylation congenital disorder of glycosylation type 1q congenital disorder of glycosylation type Iq CDG Iq CDGIq SRD5A3-CDG (CDG-Iq) coloboma, ocular, with ichthyosis, brain malformations, and endocrine abnormalities congenital disorder of glycosylation due to steroid 5alpha-reductase type 3 deficiency congenital disorder of glycosylation, type Iq SRD5A3-congenital disorder of glycosylation MONDO:0012886 An inflammatory bowel disease that has material basis in variation in the chromosome region 17q21.2. IBD22 inflammatory bowel disease 22 inflammatory bowel disease type 22 inflammatory bowel disease 22 MONDO:0012887 An inflammatory bowel disease that has material basis in variation in the chromosome region 1q32.1. IBD23 inflammatory bowel disease 23 inflammatory bowel disease type 23 inflammatory bowel disease 23 MONDO:0012888 Any sarcoidosis in which the cause of the disease is a mutation in the BTNL2 gene. BTNL2 sarcoidosis sarcoidosis caused by mutation in BTNL2 sarcoidosis, susceptibility to, 2 sarcoidosis, susceptibility to, type 2 SS2 susceptibility to sarcoidosis 2 sarcoidosis, susceptibility to, 2 MONDO:0012889 https://github.com/monarch-initiative/mondo/issues/4882 SS3 sarcoidosis, susceptibility to, 3 sarcoidosis, susceptibility to, 3 MONDO:0012890 Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN2 gene. TSEN2 non-syndromic pontocerebellar hypoplasia non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN2 pontocerebellar hypoplasia type 2B PCH2B pontocerebellar hypoplasia, type 2B pontocerebellar hypoplasia type 2B MONDO:0012891 Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN34 gene. TSEN34 non-syndromic pontocerebellar hypoplasia non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN34 PCH2C pontocerebellar hypoplasia, type 2C pontocerebellar hypoplasia type 2C MONDO:0012892 A rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features. bone fragility with contractures, arterial rupture, and deafness bone fragility-contractures-arterial rupture-deafness syndrome connective tissue disorder due to LH3 deficiency connective tissue disorder due to lysyl hydroxylase-3 deficiency LH3 deficiency lysyl Hydroxylase 3 deficiency bone fragility with contractures, arterial rupture, and deafness MONDO:0012893 Any osteoarthritis in which the cause of the disease is a mutation in the GDF5 gene. https://github.com/monarch-initiative/mondo/issues/4521 GDF5 osteoarthritis osteoarthritis caused by mutation in GDF5 osteoarthritis susceptibility 5 osteoarthritis susceptibility type 5 osteoarthritis-5 OS5 osteoarthritis of hip osteoarthritis susceptibility 5 MONDO:0012894 OS6 osteoarthritis susceptibility 6 osteoarthritis of knee osteoarthritis susceptibility 6 MONDO:0012895 A dystonia characterized by autosomal recessive inheritance of progressive dystonia, dysphonia, dysarthria and neck torticollis that has material basis in variation in the chromosome region 20p11.2-q13.12. https://github.com/monarch-initiative/mondo/issues/4521 dystonia-17, primary torsion torsion dystonia type 17 DYT17 dystonia 17, torsion, autosomal recessive primary dystonia, DYT17 type torsion dystonia 17 MONDO:0012896 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 PSORS10 psoriasis 10, susceptibility to psoriasis susceptibility 10 psoriasis 10, susceptibility to MONDO:0012897 Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5537 PTA deficiency Rosenthal factor deficiency Rosenthal syndrome Rosenthal's disease congenital factor XI deficiency factor XI deficiency, autosomal dominant factor XI deficiency, autosomal recessive hemophilia C hereditary Factor XI deficiency hereditary factor XI deficiency hereditary factor XI deficiency disease plasma thromboplastin antecedent deficiency F11 deficiency factor 11 deficiency factor XI deficiency congenital factor XI deficiency https://rarediseases.info.nih.gov/diseases/9670/factor-xi-deficiency MONDO:0012898 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 NRCLP4 narcolepsy 4, susceptibility to narcolepsy 4 narcolepsy 4, susceptibility to MONDO:0012899 AGA3 alopecia, androgenetic, 3 alopecia, androgenetic, 3 MONDO:0012900 Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene. TNNT2 familial isolated restrictive cardiomyopathy cardiomyopathy, familial restrictive, 3 cardiomyopathy, familial restrictive, type 3 familial isolated restrictive cardiomyopathy caused by mutation in TNNT2 RCM3 cardiomyopathy, familial restrictive, 3 MONDO:0012901 An instance of prekallikrein deficiency that is caused by an inherited modification of the individual's genome. https://github.com/monarch-initiative/mondo/issues/4521 congenital prekallikrein deficiency fletcher factor (prekallikrein) deficiency hereditary prekallikrein deficiency Fletcher Factor deficiency PKK deficiency prekallikrein deficiency prekallikrein deficiency, congenital inherited prekallikrein deficiency https://rarediseases.info.nih.gov/diseases/4477/prekallikrein-deficiency-congenital MONDO:0012902 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.1. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA27 autosomal dominant deafness 27 autosomal dominant nonsyndromic deafness 27 autosomal dominant nonsyndromic deafness type 27 deafness, autosomal dominant 27 autosomal dominant nonsyndromic hearing loss 27 MONDO:0012903 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1q43-q44. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB45 autosomal recessive deafness 45 autosomal recessive nonsyndromic deafness 45 autosomal recessive nonsyndromic deafness type 45 deafness, autosomal recessive 45 autosomal recessive nonsyndromic hearing loss 45 MONDO:0012904 Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the PRICKLE1 gene. https://github.com/monarch-initiative/mondo/issues/4521 PRICKLE1 progressive myoclonic epilepsy epilepsy, progressive myoclonic 1B epilepsy, progressive myoclonic, 1B epilepsy, progressive myoclonic, type 1B progressive myoclonic epilepsy caused by mutation in PRICKLE1 EPM1B epilepsy, progressive myoclonic, 1B MONDO:0012905 Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria. H-ABC HABC HLD6 hypomyelinating leukodystrophy type 6 hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum hypomyelination with atrophy of basal ganglia and cerebellum leukodystrophy, hypomyelinating, type 6 leukodystrophy, hypomyelinating, 6 leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum hypomyelinating leukodystrophy 6 MONDO:0012906 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI2 gene. CILD9 DNAI2 primary ciliary dyskinesia ciliary dyskinesia, primary, type 9 primary ciliary dyskinesia 9 primary ciliary dyskinesia 9 with or without situs inversus primary ciliary dyskinesia caused by mutation in DNAI2 primary ciliary dyskinesia type 9 ciliary dyskinesia, primary, 9 ciliary dyskinesia, primary, 9, with or without situs inversus primary ciliary dyskinesia 9 MONDO:0012907 This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes. scoliosis, arachnodactyly, and blindness blindness - scoliosis - arachnodactyly syndrome MONDO:0012908 Any classic complement early component deficiency in which the cause of the disease is a mutation in the C6 gene. C6 classic complement early component deficiency classic complement early component deficiency caused by mutation in C6 complement component 6 deficiency C6 deficiency C6 deficiency, subtotal C6D complement component 6 deficiency, subtotal complement component 6 deficiency MONDO:0012909 skeletal defects, genital hypoplasia, and intellectual disability skeletal defects, genital hypoplasia, and mental retardation skeletal defects, genital hypoplasia, and intellectual disability MONDO:0012910 ARHI1 age-related hearing impairment 1 presbycusis 1 age-related hearing impairment 1 MONDO:0012911 A rare type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO), but normal activity of the stimulatory protein G (Gs alpha). https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5682 pseudohypoparathyroidism Ic PHP1C Php 1C pseudohypoparathyroidism, type 1C pseudohypoparathyroidism, type IC pseudohypoparathyroidism type 1C https://rarediseases.info.nih.gov/diseases/10681/pseudohypoparathyroidism-type-1c MONDO:0012912 A disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP). https://github.com/monarch-initiative/mondo/issues/5682 Albright Hereditary osteodystrophy with multiple hormone resistance Albright hereditary osteodystrophy-PPHP syndrome Normocalcemic pseudohypoparathyroidism Normocalcemic pseudohypoparathyroidism (disorder) [ambiguous] aho-PPHP syndrome pseudopseudohypoparathyroidism Albright hereditary osteodystrophy without multiple hormone resistance PPHP Pseudopseudo-hypoparathyroidism pseudo-pseudohypoparathyroidism pseudopseudohypoparathyroidism https://rarediseases.info.nih.gov/diseases/7860/pseudopseudohypoparathyroidism MONDO:0012913 A sub-phenotype of WAGR that includes obesity, and is associated with mutation(s) in the BDNF gene. Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome Wilms tumor-aniridia-genitourinary anomalies-intellectual disability-obesity syndrome Wilms tumor-aniridia-genitourinary anomalies-mental retardation-obesity syndrome WAGR syndrome with obesity WAGRO Wagro syndrome chromosome 11P13-p12 deletion syndrome Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome MONDO:0012914 1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome. https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/4521 1q21.1 microdeletion syndrome 1q21.1 recurrent microdeletion (susceptibility locus for neurodevelopmental disorders) Del(1)(q21) chromosome 1q21.1 deletion syndrome, isolated cases monosomy 1q21.1 1q21.1 microdeletion chromosome 1q21.1 deletion syndrome, 1.35-MB chromosome 1q21.1 microdeletion syndrome chromosome 1q21.1 deletion syndrome MONDO:0012915 Chromosome 1q21.1 duplication syndrome is a rare condition caused by the presence of an extra copy of a small piece of chromosome 1 in the cells of the body. Signs and symptoms can vary widely among affected individuals. Some individuals have no symptoms, while others may have features such as a large head size (macrocephaly); mild to moderate developmental delay and learning difficulties; autism or autistic-like behavior; heart problems; seizures; and/or and distinctive facial features. This condition can occur sporadically as a de novo mutation (by chance) or can be inherited in an autosomal dominant manner from a parent. Treatment depends on the signs and symptoms present in each individual. https://github.com/monarch-initiative/mondo/issues/3492 https://github.com/monarch-initiative/mondo/issues/4521 1q21.1 microduplication syndrome 1q21.1 recurrent microduplication (possible susceptibility locus for neurodevelopmental disorders) chromosome 1q21.1 duplication syndrome chromosome 1q21.1 duplication syndrome, isolated cases dup(1)(q21.1) trisomy 1q21.1 chromosome 1q21.1 duplication syndrome https://rarediseases.info.nih.gov/diseases/10591/chromosome-1q211-duplication-syndrome MONDO:0012916 2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/4521 2p15-p16.1 microdeletion syndrome 2p15p16.1 microdeletion syndrome Del(2)(p15p16.1) chromosome 2p16.1-p15 deletion syndrome chromosome 2p16.1-p15 deletion syndrome, isolated cases monosomy 2p15-p16.1 monosomy 2p15p16.1 chromosome 2p16.1-p15 deletion syndrome MONDO:0012917 SLI4 specific language impairment 4 specific language impairment 4 MONDO:0012918 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF2 gene. CILD10 DNAAF2 primary ciliary dyskinesia ciliary dyskinesia, primary, type 10 primary ciliary dyskinesia 10 with or without situs inversus primary ciliary dyskinesia caused by mutation in DNAAF2 primary ciliary dyskinesia type 10 ciliary dyskinesia, primary, 10 ciliary dyskinesia, primary, 10, with or without situs inversus primary ciliary dyskinesia 10 MONDO:0012919 Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the HNF1A gene. https://github.com/monarch-initiative/mondo/issues/5033 HNF1A type 1 diabetes mellitus IDDM20 diabetes mellitus, insulin-dependent, type 20 insulin-dependent diabetes mellitus 20 type 1 diabetes mellitus caused by mutation in HNF1A diabetes mellitus, insulin-dependent, 20 type 1 diabetes mellitus 20 MONDO:0012920 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 6q25. https://github.com/monarch-initiative/mondo/issues/5033 IDDM21 insulin-dependent diabetes mellitus 21 diabetes mellitus, insulin-dependent, 21 type 1 diabetes mellitus 21 MONDO:0012921 Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the CCR5 gene. https://github.com/monarch-initiative/mondo/issues/5033 CCR5 type 1 diabetes mellitus IDDM22 diabetes mellitus, insulin-dependent, type 22 insulin-dependent diabetes mellitus 22 type 1 diabetes mellitus caused by mutation in CCR5 diabetes mellitus, insulin-dependent, 22 type 1 diabetes mellitus 22 MONDO:0012922 IHPS5 infantile hypertrophic pyloric stenosis type 5 pyloric stenosis, infantile hypertrophic, 5 pyloric stenosis, infantile hypertrophic, 5 MONDO:0012923 Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAV1 gene. https://github.com/monarch-initiative/mondo/issues/4069 BSCL3 Berardinelli-Seip congenital lipodystrophy type 3 CAV1 congenital generalized lipodystrophy (disease) CGL3 congenital generalized lipodystrophy (disease) caused by mutation in CAV1 Berardinelli-Seip congenital lipodystrophy, type 3 lipodystrophy, Berardinelli-Seip congenital, type 3 lipodystrophy, congenital generalized, type 3 type 3 Berardinelli-Seip congenital lipodystrophy congenital generalized lipodystrophy type 3 https://rarediseases.info.nih.gov/diseases/13389/congenital-generalized-lipodystrophy-type-3 MONDO:0012924 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS17 gene. Diamond-Blackfan Anemia type 4 Diamond-Blackfan anemia 4 Diamond-Blackfan anemia caused by mutation in RPS17 RPS17 Diamond-Blackfan anemia DBA4 Diamond-Blackfan anemia 4 MONDO:0012925 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL35A gene. Diamond-Blackfan Anemia type 5 Diamond-Blackfan anemia 5 Diamond-Blackfan anemia caused by mutation in RPL35A RPL35A Diamond-Blackfan anemia DBA5 Diamond-Blackfan anemia 5 MONDO:0012926 Any amelogenesis imperfecta in which the cause of the disease is a mutation in the MMP20 gene. https://github.com/monarch-initiative/mondo/issues/4521 AI2A2 MMP20 amelogenesis imperfecta amelogenesis imperfecta caused by mutation in MMP20 amelogenesis imperfecta hypomaturation type IIA2 amelogenesis imperfecta pigmented hypomaturation type 2 amelogenesis imperfecta type IIA2 amelogenesis imperfecta, type IIA2 amelogenesis imperfecta, hypomaturation type, IIA2 amelogenesis imperfecta, pigmented hypomaturation type, 2 amelogenesis imperfecta hypomaturation type 2A2 MONDO:0012927 1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease. https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/4521 1q41-q42 microdeletion syndrome 1q41q42 microdeletion syndrome Del(1)(q41q42) chromosome 1q41-q42 deletion syndrome chromosome 1q41-q42 deletion syndrome, isolated cases monosomy 1q41-q42 monosomy 1q41q42 1q41-q42 deletion syndrome deletion 1q41-q42 holoprosencephaly 10 chromosome 1q41-q42 deletion syndrome https://rarediseases.info.nih.gov/diseases/3738/chromosome-1q41-q42-deletion-syndrome MONDO:0012928 Autosomal dominant spastic paraplegia type 42 is a pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging. SLC33A1 autosomal dominant pure spastic paraplegia SPG42 autosomal dominant pure spastic paraplegia caused by mutation in SLC33A1 autosomal dominant spastic paraplegia 42 autosomal dominant spastic paraplegia type 42 hereditary spastic paraplegia type 42 spastic paraplegia 42, autosomal dominant hereditary spastic paraplegia 42 MONDO:0012929 https://github.com/monarch-initiative/mondo/issues/4069 Compton-North congenital myopathy MYPCN congenital lethal myopathy, Compton-North type myopathy, congenital, Compton-NORTH Compton-North congenital myopathy MONDO:0012930 https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 SCN4 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency neutropenia, severe congenital 4, autosomal recessive severe congenital neutropenia type 4 severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome Dursun syndrome neutropenia, severe congenital, 4, autosomal recessive pulmonary arterial hypertension, leukopenia, and atrial septal defect autosomal recessive severe congenital neutropenia due to G6PC3 deficiency MONDO:0012931 Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the APOL1 gene. https://github.com/monarch-initiative/mondo/issues/4521 APOL1 focal segmental glomerulosclerosis focal segmental glomerulosclerosis 4, susceptibility to focal segmental glomerulosclerosis caused by mutation in APOL1 glomerulosclerosis, focal segmental, 4, susceptibility to FSGS4 end-stage renal disease, nondiabetic, susceptibility to susceptibility to focal segmental glomerulosclerosis 4 focal segmental glomerulosclerosis 4, susceptibility to MONDO:0012932 https://github.com/monarch-initiative/mondo/issues/4521 MYP16 myopia 16 myopia 16, autosomal dominant myopia 16, autosomal dominant MONDO:0012933 Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA2 gene. https://github.com/monarch-initiative/mondo/issues/4521 BRCA2 hereditary breast ovarian cancer syndrome breast-ovarian cancer, familial, 2 breast-ovarian cancer, familial, susceptibility to, 2 breast-ovarian cancer, familial, susceptibility to, type 2 hereditary breast ovarian cancer syndrome caused by mutation in BRCA2 BROVCA2 breast cancer, familial, susceptibility to, 2 ovarian cancer, familial, susceptibility to, 2 susceptibility to familial breast-ovarian cancer 2 breast-ovarian cancer, familial, susceptibility to, 2 MONDO:0012934 leukemia, chronic lymphocytic, susceptibility to, 3 leukemia, chronic lymphocytic, susceptibility to, type 3 Clls3 leukemia, chronic lymphocytic, susceptibility to, 3 MONDO:0012935 https://github.com/monarch-initiative/mondo/issues/4521 leukemia, chronic lymphocytic susceptibility to, 4 leukemia, chronic lymphocytic, susceptibility to, 4 leukemia, chronic lymphocytic, susceptibility to, type 4 Clls4 leukemia, chronic lymphocytic, susceptibility to, 4 MONDO:0012936 https://github.com/monarch-initiative/mondo/issues/4521 leukemia, chronic lymphocytic susceptibility to, 5 leukemia, chronic lymphocytic, susceptibility to, 5 leukemia, chronic lymphocytic, susceptibility to, type 5 Clls5 leukemia, chronic lymphocytic, susceptibility to, 5 MONDO:0012937 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL5 gene. Diamond-Blackfan Anemia type 6 Diamond-Blackfan anemia 6 Diamond-Blackfan anemia caused by mutation in RPL5 RPL5 Diamond-Blackfan anemia Aase-Smith syndrome 2 DBA6 Diamond-Blackfan anemia 6 MONDO:0012938 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL11 gene. Diamond-Blackfan Anemia type 7 Diamond-Blackfan anemia 7 Diamond-Blackfan anemia caused by mutation in RPL11 RPL11 Diamond-Blackfan anemia DBA7 Diamond-Blackfan anemia 7 MONDO:0012939 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS7 gene. Diamond-Blackfan Anemia type 8 Diamond-Blackfan anemia 8 Diamond-Blackfan anemia caused by mutation in RPS7 RPS7 Diamond-Blackfan anemia DBA8 Diamond-Blackfan anemia 8 MONDO:0012940 An inflammatory bowel disease that has material basis in variation in the chromosome 20q13. IBD24 inflammatory bowel disease 24 inflammatory bowel disease type 24 inflammatory bowel disease 24 MONDO:0012941 Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RB gene. https://github.com/monarch-initiative/mondo/issues/4521 IBD25 IL10RB inflammatory bowel disease early onset autosomal recessive inflammatory bowel disease 25 inflammatory bowel disease 25, early onset, autosomal recessive inflammatory bowel disease caused by mutation in IL10RB inflammatory bowel disease type 25 inflammatory bowel disease 25, autosomal recessive inflammatory bowel disease, early-onset, autosomal recessive inflammatory bowel disease 25 MONDO:0012942 https://github.com/monarch-initiative/mondo/issues/4882 LNCR3 lung cancer susceptibility 3 adenocarcinoma of lung, susceptibility to lung cancer susceptibility 3 MONDO:0012943 Any retinitis pigmentosa in which the cause of the disease is a mutation in the IDH3B gene. https://github.com/monarch-initiative/mondo/issues/5693 IDH3B retinitis pigmentosa RP46 retinitis pigmentosa 46 retinitis pigmentosa caused by mutation in IDH3B retinitis pigmentosa type 46 retinitis pigmentosa, autosomal recessive, Idh3B-related retinitis pigmentosa 46 MONDO:0012944 https://github.com/monarch-initiative/mondo/issues/4948 chromosome 17P13.3, telomeric, duplication syndrome split-hand/foot malformation with long bone deficiency 3 chromosome 17P13.3, telomeric, duplication syndrome MONDO:0012945 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FIG4 gene. ALS11 FIG4 amyotrophic lateral sclerosis amyotrophic lateral sclerosis 11 amyotrophic lateral sclerosis caused by mutation in FIG4 amyotrophic lateral sclerosis type 11 amyotrophic lateral sclerosis type 11 https://rarediseases.info.nih.gov/diseases/10496/amyotrophic-lateral-sclerosis-type-11 MONDO:0012946 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CDH15 gene. CDH15 autosomal dominant non-syndromic intellectual disability MRD3 autosomal dominant intellectual disability 3 autosomal dominant mental retardation 3 autosomal dominant non-syndromic intellectual disability caused by mutation in CDH15 intellectual disability, autosomal dominant 3 intellectual disability, autosomal dominant type 3 mental retardation, autosomal dominant type 3 autosomal dominant non-syndromic intellectual disability 3 mental retardation, autosomal dominant 3 intellectual disability, autosomal dominant 3 MONDO:0012947 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the KIRREL3 gene. KIRREL3 autosomal dominant non-syndromic intellectual disability MRD4 autosomal dominant intellectual disability 4 autosomal dominant mental retardation 4 autosomal dominant non-syndromic intellectual disability caused by mutation in KIRREL3 intellectual disability, autosomal dominant 4 intellectual disability, autosomal dominant type 4 mental retardation, autosomal dominant type 4 autosomal dominant non-syndromic intellectual disability 4 mental retardation, autosomal dominant 4 intellectual disability, autosomal dominant 4 MONDO:0012948 Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism. https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 6p subtelomeric deletion syndrome 6p25 microdeletion syndrome chromosome 6pter-p24 deletion syndrome chromosome 6pter-p24 deletion syndrome, isolated cases distal deletion 6p distal monosomy 6p distal monosomy type 6p monosomy 6p25 chromosome 6pter-p24 deletion syndrome MONDO:0012949 ANIB9 aneurysm, intracranial BERRY, 9 aneurysm, intracranial berry, 9 MONDO:0012950 ANIB10 aneurysm, intracranial BERRY, 10 aneurysm, intracranial berry, 10 MONDO:0012951 https://github.com/monarch-initiative/mondo/issues/4882 CRCS8 colorectal cancer, susceptibility to, 8 colorectal cancer, susceptibility to, on chromosome 14Q colorectal cancer, susceptibility to, 8 MONDO:0012952 https://github.com/monarch-initiative/mondo/issues/4882 CRCS9 colorectal cancer, susceptibility to, 9 colorectal cancer, susceptibility to, on chromosome 16Q colorectal cancer, susceptibility to, 9 MONDO:0012953 Any colorectal cancer in which the cause of the disease is a mutation in the POLD1 gene. POLD1 colorectal cancer colorectal cancer caused by mutation in POLD1 colorectal cancer, susceptibility to, 10 colorectal cancer, susceptibility to, type 10 CRCS10 colorectal cancer, susceptibility to, on chromosome 19Q susceptibility to colorectal cancer 10 colorectal cancer, susceptibility to, 10 MONDO:0012954 https://github.com/monarch-initiative/mondo/issues/4882 CRCS11 colorectal cancer, susceptibility to, 11 colorectal cancer, susceptibility to, on chromosome 20P colorectal cancer, susceptibility to, 11 MONDO:0012955 https://github.com/monarch-initiative/mondo/issues/4882 LNCR4 lung cancer susceptibility 4 lung cancer susceptibility 4 MONDO:0012956 https://github.com/monarch-initiative/mondo/issues/4882 MS2 multiple sclerosis, susceptibility to, 2 multiple sclerosis, susceptibility to, 2 MONDO:0012957 https://github.com/monarch-initiative/mondo/issues/4882 MS3 multiple sclerosis, susceptibility to, 3 multiple sclerosis, susceptibility to, 3 MONDO:0012958 https://github.com/monarch-initiative/mondo/issues/4882 MS4 multiple sclerosis, susceptibility to, 4 multiple sclerosis, susceptibility to, 4 MONDO:0012959 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 PSORS11 psoriasis 11, susceptibility to psoriasis susceptibility 11 psoriasis 11, susceptibility to MONDO:0012960 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the SYNGAP1 gene. MRD5 SYNGAP1 autosomal dominant non-syndromic intellectual disability autosomal dominant intellectual disability 5 autosomal dominant mental retardation 5 autosomal dominant non-syndromic intellectual disability caused by mutation in SYNGAP1 intellectual disability, autosomal dominant 5 intellectual disability, autosomal dominant type 5 mental retardation, autosomal dominant type 5 SYNGAP1 Gene mutation linked to intellectual disability, schizophrenia and autism SYNGAP1 syndrome SYNGAP1-related NSID SYNGAP1-related non-syndromic intellectual disability autosomal dominant non-syndromic intellectual disability 5 mental retardation, autosomal dominant 5 intellectual disability, autosomal dominant 5 MONDO:0012961 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 4q27. https://github.com/monarch-initiative/mondo/issues/5033 IDDM23 insulin-dependent diabetes mellitus 23 diabetes mellitus, insulin-dependent, 23 type 1 diabetes mellitus 23 MONDO:0012962 Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the EPO gene. https://github.com/monarch-initiative/mondo/issues/4521 EPO microvascular complications of diabetes, susceptibility microvascular complications of diabetes 2 microvascular complications of diabetes, susceptibility caused by mutation in EPO microvascular complications of diabetes, susceptibility to, 2 microvascular complications of diabetes, susceptibility to, type 2 MVCD2 end-stage renal disease, diabetic, susceptibility to proliferative retinopathy, diabetic, susceptibility to microvascular complications of diabetes, susceptibility to, 2 MONDO:0012963 Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the ACE gene. https://github.com/monarch-initiative/mondo/issues/4521 ACE microvascular complications of diabetes, susceptibility microvascular complications of diabetes 3 microvascular complications of diabetes, susceptibility caused by mutation in ACE microvascular complications of diabetes, susceptibility to, 3 microvascular complications of diabetes, susceptibility to, type 3 MVCD3 end-stage renal disease, diabetic, susceptibility to nephropathy, diabetic, susceptibility to microvascular complications of diabetes, susceptibility to, 3 MONDO:0012964 Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported. https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/4521 15q26 deletion syndrome Drayer syndrome chromosome 15q26-qter deletion syndrome chromosome 15q26-qter deletion syndrome, isolated cases distal 15q deletion syndrome distal monosomy 15q distal monosomy type 15q monosomy 15q26 telomeric 15q deletion syndrome chromosome 15q26-qter deletion syndrome MONDO:0012965 BFIS4 seizures, benign familial infantile, 4 convulsions, benign familial infantile, 4 seizures, benign familial infantile, 4 MONDO:0012966 Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the IL1RN gene. https://github.com/monarch-initiative/mondo/issues/4521 IL1RN microvascular complications of diabetes, susceptibility microvascular complications of diabetes 4 microvascular complications of diabetes, susceptibility caused by mutation in IL1RN microvascular complications of diabetes, susceptibility to, 4 microvascular complications of diabetes, susceptibility to, type 4 MVCD4 nephropathy, diabetic, susceptibility to microvascular complications of diabetes, susceptibility to, 4 MONDO:0012967 Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment. ADENYLATE KINASE deficiency, hemolytic anemia due to hemolytic anemia due to adenylate kinase deficiency MONDO:0012968 An Usher syndrome type 1 that has material basis in variation in the chromosome region 15q22-q23. https://github.com/monarch-initiative/mondo/issues/4521 USH1H Usher syndrome type IH Usher syndrome, type 1H USHER syndrome, type IH Usher syndrome type 1H MONDO:0012969 Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the PON1 gene. https://github.com/monarch-initiative/mondo/issues/4521 PON1 microvascular complications of diabetes, susceptibility microvascular complications of diabetes 5 microvascular complications of diabetes, susceptibility caused by mutation in PON1 microvascular complications of diabetes, susceptibility to, 5 microvascular complications of diabetes, susceptibility to, type 5 MVCD5 retinopathy, diabetic, susceptibility to microvascular complications of diabetes, susceptibility to, 5 MONDO:0012970 Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the SOD2 gene. https://github.com/monarch-initiative/mondo/issues/4521 SOD2 microvascular complications of diabetes, susceptibility microvascular complications of diabetes 6 microvascular complications of diabetes, susceptibility caused by mutation in SOD2 microvascular complications of diabetes, susceptibility to, 6 microvascular complications of diabetes, susceptibility to, type 6 MVCD6 nephropathy, diabetic, susceptibility to microvascular complications of diabetes, susceptibility to, 6 MONDO:0012971 Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the HFE gene. https://github.com/monarch-initiative/mondo/issues/4521 HFE microvascular complications of diabetes, susceptibility microvascular complications of diabetes 7 microvascular complications of diabetes, susceptibility caused by mutation in HFE microvascular complications of diabetes, susceptibility to, 7 microvascular complications of diabetes, susceptibility to, type 7 MVCD7 nephropathy, diabetic, susceptibility to nonproliferative retinopathy, diabetic, susceptibility to proliferative retinopathy, diabetic, susceptibility to microvascular complications of diabetes, susceptibility to, 7 MONDO:0012972 FEB10 febrile seizures, familial, 10 convulsions, familial febrile, 10 febrile seizures, familial, 10 MONDO:0012973 An inflammatory bowel disease that has material basis in variation in the chromosome region 12q15. IBD26 inflammatory bowel disease 26 inflammatory bowel disease type 26 inflammatory bowel disease 26 MONDO:0012974 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 11p14.2-q12.3. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA59 autosomal dominant deafness 59 autosomal dominant nonsyndromic deafness 59 autosomal dominant nonsyndromic deafness type 59 deafness, autosomal dominant 59 autosomal dominant nonsyndromic hearing loss 59 MONDO:0012975 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA3B GJB6 autosomal dominant nonsyndromic deafness autosomal dominant deafness 3B autosomal dominant nonsyndromic deafness 3B autosomal dominant nonsyndromic deafness caused by mutation in GJB6 autosomal dominant nonsyndromic deafness type 3B deafness, autosomal dominant 3B deafness, autosomal dominant 3b deafness, autosomal dominant type 3B autosomal dominant nonsyndromic hearing loss 3B MONDO:0012976 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB3 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA2B GJB3 autosomal dominant nonsyndromic deafness autosomal dominant deafness 2B autosomal dominant nonsyndromic deafness 2B autosomal dominant nonsyndromic deafness caused by mutation in GJB3 autosomal dominant nonsyndromic deafness type 2B deafness, autosomal dominant 2B deafness, autosomal dominant 2b deafness, autosomal dominant type 2B autosomal dominant nonsyndromic hearing loss 2B MONDO:0012977 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 Autosomal recessive deafness type 1B DFNB1B GJB6 autosomal recessive nonsyndromic deafness autosomal recessive deafness 1B autosomal recessive nonsyndromic deafness 1B autosomal recessive nonsyndromic deafness caused by mutation in GJB6 autosomal recessive nonsyndromic deafness type 1B deafness, autosomal recessive 1B deafness, autosomal recessive 1b deafness, autosomal recessive type 1B autosomal recessive nonsyndromic hearing loss 1B MONDO:0012978 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH4A gene. CILD11 RSPH4A primary ciliary dyskinesia ciliary dyskinesia, primary, type 11 primary ciliary dyskinesia 11 primary ciliary dyskinesia 11 without situs inversus primary ciliary dyskinesia caused by mutation in RSPH4A primary ciliary dyskinesia type 11 ciliary dyskinesia, primary, 11 ciliary dyskinesia, primary, 11, without situs inversus primary ciliary dyskinesia 11 MONDO:0012979 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH9 gene. CILD12 RSPH9 primary ciliary dyskinesia ciliary dyskinesia, primary, type 12 primary ciliary dyskinesia 12 without situs inversus primary ciliary dyskinesia caused by mutation in RSPH9 primary ciliary dyskinesia type 12 ciliary dyskinesia, primary, 12 ciliary dyskinesia, primary, 12, without situs inversus primary ciliary dyskinesia 12 MONDO:0012980 Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality. ECO syndrome ECO endocrine-CEREBROOSTEODYSPLASIA endocrine-cerebro-osteodysplasia syndrome MONDO:0012981 Any hereditary spherocytosis in which the cause of the disease is a mutation in the SLC4A1 gene. HS4 SLC4A1 hereditary spherocytosis SPH4 hereditary spherocytosis 4 hereditary spherocytosis caused by mutation in SLC4A1 spherocytosis, hereditary, 4 spherocytosis, type 4 hereditary spherocytosis type 4 MONDO:0012982 Episodic ataxia type 6 (EA6) is an exceedingly rare form of hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia. https://github.com/monarch-initiative/mondo/issues/4985 SLC1A3 hereditary episodic ataxia episodic ataxia type 6 hereditary episodic ataxia caused by mutation in SLC1A3 EA6 episodic ataxia, type 6 episodic ataxia type 6 MONDO:0012983 Any cone-rod dystrophy in which the cause of the disease is a mutation in the PROM1 gene. CORD12 PROM1 cone-rod dystrophy cone-rod dystrophy 12 cone-rod dystrophy caused by mutation in PROM1 cone-rod dystrophy type 12 cone-rod dystrophy 12 MONDO:0012984 Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life. PHARC syndrome peripheral neuropathy, Fiskerstrand type polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract PHARC polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome PHARC syndrome MONDO:0012985 Any hereditary spherocytosis in which the cause of the disease is a mutation in the EPB42 gene. EPB42 hereditary spherocytosis HS5 SPH5 hereditary spherocytosis 5 hereditary spherocytosis caused by mutation in EPB42 hereditary spherocytosis type 5 spherocytosis, hereditary, 5 spherocytosis, type 5 hereditary spherocytosis type 5 MONDO:0012986 BTOP polymicrogyria, bilateral temporooccipital bilateral parasagittal parieto-occipital polymicrogyria https://rarediseases.info.nih.gov/diseases/10785/bilateral-parasagittal-parieto-occipital-polymicrogyria MONDO:0012987 Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79B gene. CD79B autosomal agammaglobulinemia agammaglobulinemia 6, autosomal recessive autosomal agammaglobulinemia caused by mutation in CD79B AGM6 agammaglobulinemia, autosomal recessive, due to Cd79B defect agammaglobulinemia 6, autosomal recessive MONDO:0012988 Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF8 gene. FGF8 hypogonadotropic hypogonadism hypogonadotropic hypogonadism 6 with or without anosmia hypogonadotropic hypogonadism caused by mutation in FGF8 KAL6 HH6 Kallmann syndrome 6 hypogonadotropic hypogonadism 6 with or without anosmia https://rarediseases.info.nih.gov/diseases/10774/kallmann-syndrome-6 MONDO:0012989 Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the STIL gene. STIL autosomal recessive primary microcephaly autosomal recessive primary microcephaly caused by mutation in STIL microcephaly 7, primary, autosomal recessive MCPH7 microcephaly 7, primary, autosomal recessive MONDO:0012990 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RDH12 gene. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4937 LCA13 Leber congenital amaurosis 13 Leber congenital amaurosis caused by mutation in RDH12 Leber congenital amaurosis type 13 RDH12 Leber congenital amaurosis retinitis pigmentosa 53 Leber congenital amaurosis 13 https://rarediseases.info.nih.gov/diseases/10882/leber-congenital-amaurosis-13 MONDO:0012991 An autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has material basis in mutation in the SRD5A3 gene. Kahrizi syndrome KHRZ intellectual disability, cataract, coloboma, and kyphosis, autosomal recessive mental retardation, cataract, coloboma, and kyphosis, autosomal recessive Kahrizi syndrome MONDO:0012992 This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis pancreatic insufficiency-anemia-hyperostosis syndrome MONDO:0012993 dyschromatosis universalis hereditaria 2 DUH2 dyschromatosis universalis hereditaria 2 MONDO:0012994 Dopa responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development. DRD due to SRD DYT-SPR SPR deficiency SRD autosomal recessive sepiapterin reductase-deficient DRD dopa-responsive dystonia due to sepiapterin reductase deficiency sepiapterin reductase deficiency dystonia, DOPA-responsive, due to sepiapterin reductase deficiency dopa-responsive dystonia due to sepiapterin reductase deficiency MONDO:0012995 MYP15 myopia 15, autosomal dominant myopia 15, autosomal dominant MONDO:0012996 L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy. AGAT deficiency CCDS3 GATM deficiency L-arginine:glycine amidinotransferase deficiency arginine:glycine amidinotransferase deficiency cerebral creatine deficiency syndrome 3 cerebral creatine deficiency syndrome type 3 creatine deficiency syndrome due to AGAT deficiency disorder of glycine amidinotransferase activity glycine amidinotransferase activity disease AGAT deficiency MONDO:0012997 Cholestasis- pigmentary retinopathy- cleft palate is a syndrome of multiple congenital malformations, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicouretral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastresophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis etc) have also been reported. An overlap with Kabuki syndrome is debated. Hardikar syndrome HARDIKAR syndrome cholestasis-pigmentary retinopathy-cleft palate syndrome MONDO:0012998 faciocardiomelic syndrome faciocardiomelic syndrome MONDO:0012999 Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations. GAMT deficiency cerebral creatine deficiency syndrome 2 cerebral creatine deficiency syndrome type 2 disorder of guanidinoacetate N-methyltransferase activity guanidinoacetate N-methyltransferase activity disease guanidinoacetate methyltransferase deficiency CCDS2 creatine deficiency syndrome due to GAMT deficiency guanidinoacetate methyltransferase deficiency https://rarediseases.info.nih.gov/diseases/2578/guanidinoacetate-methyltransferase-deficiency MONDO:0013000 Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria characterized by neuro-visceral attacks without cutaneous manifestations. ALAD porphyria acute hepatic porphyria porphyria due to ALA dehydratase deficiency porphyria due to ALAD deficiency porphyria due to delta-aminolevulinate dehydratase deficiency porphyria of Doss 5-aminolevulinic acid dehydratase deficiency porphyria ALA dehydratase deficiency pophyria ALAD deficiency Delta-aminolevulinate dehydratase deficiency Doss porphyria Lead poisoning, susceptibility to aminolevulinate dehydratase deficiency porphyria porphobilinogen synthase deficiency porphyria, ALAD porphyria, acute hepatic porphyria due to ALA dehydratase deficiency https://rarediseases.info.nih.gov/diseases/4445/aminolevulinate-dehydratase-deficiency-porphyria MONDO:0013002 Any cone-rod dystrophy in which the cause of the disease is a mutation in the ADAM9 gene. https://github.com/monarch-initiative/mondo/issues/5693 ADAM9 cone-rod dystrophy CORD9 cone-rod dystrophy 9 cone-rod dystrophy caused by mutation in ADAM9 cone-rod dystrophy type 9 cone-rod dystrophy 9 MONDO:0013003 Isolated aglossia and hypoglossia are terms covering the spectrum from partial to total absence of the tongue. These congenital malformations have been classified as part of the group of oromandibular-limb hypogenesis syndromes (OLHS). https://github.com/monarch-initiative/mondo/issues/4069 hypoglossia with situs inversus hypoglossia, isolated isolated congenital hypoglossia/aglossia MONDO:0013004 hypotonia, seizures, and precocious puberty hypotonia, seizures, and precocious puberty MONDO:0013005 SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia). https://github.com/monarch-initiative/mondo/issues/5588 EAST syndrome epilepsy, ataxia, sensorineural deafness and tubulopathy seizures, sensorineural deafness, ataxia, intellectual disability and electrolyte imbalance seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome sesame syndrome SESAMES epilepsy, ataxia, sensorineural deafness, and tubulopathy seizures - sensorineural deafness - ataxia - intellectual disability - electrolyte imbalance seizures, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance EAST syndrome MONDO:0013006 An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material basis in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively. https://github.com/monarch-initiative/mondo/issues/4521 IGHD IB congenital IGHD type IB congenital isolated GH deficiency type IB congenital isolated growth hormone deficiency type IB dwarfism of Sindh growth hormone deficiency, isolated, type IB IGHD 1B IGHD1B isolated Growth hormone deficiency, type 1B isolated growth hormone deficiency type 1B isolated growth hormone deficiency, type IB isolated growth hormone deficiency type IB https://rarediseases.info.nih.gov/diseases/3919/isolated-growth-hormone-deficiency-type-1b MONDO:0013007 A form of combined immunodeficiency due to Calcium release activated Ca2+ (CRAC) channel dysfunction characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis. CID due to ORAI1 deficiency immunodeficiency type 9 IMD9 immune dysfunction with T-cell inactivation due to calcium entry defect 1 immunodeficiency 9 combined immunodeficiency due to ORAI1 deficiency MONDO:0013008 Aform of combined immunodeficiency due to Calcium release activated Ca2+(CRAC) channel dysfunction characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. CID due to STIM1 deficiency immunodeficiency type 10 IMD10 STIM1 deficiency immune dysfunction with T-cell inactivation due to calcium entry defect 2 immunodeficiency 10 combined immunodeficiency due to STIM1 deficiency MONDO:0013009 Megarbane-Jalkh syndrome Megarbane Jalkh syndrome developmental delay dysmorphic features neonatal spontaneous fractures wrinkled skin and hepatic failure developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure Megarbane-Jalkh syndrome https://rarediseases.info.nih.gov/diseases/10689/megarbane-jalkh-syndrome MONDO:0013010 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 8p22-p21.3. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB71 autosomal recessive deafness 71 autosomal recessive nonsyndromic deafness 71 autosomal recessive nonsyndromic deafness type 71 deafness, autosomal recessive 71 autosomal recessive nonsyndromic hearing loss 71 MONDO:0013011 Any atrial heart septal defect in which the cause of the disease is a mutation in the ACTC1 gene. ACTC1 atrial heart septal defect ASD5 atrial heart septal defect caused by mutation in ACTC1 atrial heart septal defect type 5 atrial septal defect 5 atrial septal defect type 5 atrial septal defect 5 MONDO:0013012 An inflammatory bowel disease that has material basis in variation in the chromosome region 13q13.3 IBD27 inflammatory bowel disease 27 inflammatory bowel disease type 27 inflammatory bowel disease 27 MONDO:0013013 question mark ears, isolated Cosman deformity of the auricle QME auricular cleft, congenital ears, prominent and constricted question MARK ears, isolated question mark ears, isolated MONDO:0013014 A spondyloepimetaphyseal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings. https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5280 SEMD, aggrecan type spondyloepimetaphyseal dysplasia, aggrecan type SEMDAG spondyloepimetaphyseal dysplasia, aggrecan type https://rarediseases.info.nih.gov/diseases/10513/spondyloepimetaphyseal-dysplasia-aggrecan-type MONDO:0013015 Any Brugada syndrome in which the cause of the disease is a mutation in the SCN1B gene. BRGDA5 Brugada syndrome 5 Brugada syndrome caused by mutation in SCN1B Brugada syndrome type 5 SCN1B Brugada syndrome Cardiac conduction defect, nonspecific Brugada syndrome 5 MONDO:0013016 Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD characterized by both severe bacterial infections and a severe bleeding disorder. https://github.com/monarch-initiative/mondo/issues/4948 FERMT3 leukocyte adhesion deficiency IADD LAD1 variant LAD1V LAD3 integrin activation deficiency disease lad-1 variant lad-III leukocyte adhesion deficiency 1 variant leukocyte adhesion deficiency 3 leukocyte adhesion deficiency caused by mutation in FERMT3 leukocyte adhesion deficiency type 3 leukocyte adhesion deficiency type III leukocyte adhesion deficiency-1 variant integrin Activation deficiency disease leukocyte adhesion deficiency, type 3 leukocyte adhesion deficiency, type III leukocyte adhesion deficiency 3 MONDO:0013017 A hypotrichosis that has material basis in a mutation on chromosome 1p21.1-q21.3. Marie Unna hereditary hypotrichosis 2 Muhh2 hypotrichosis 5 hypotrichosis type 5 hypt5 HYPT5 hypotrichosis 5 MONDO:0013018 keratosis follicularis spinulosa decalvans, autosomal dominant KFSD keratosis follicularis SPINULOSA decalvans, autosomal dominant keratosis follicularis spinulosa decalvans, autosomal dominant MONDO:0013020 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 NRCLP5 narcolepsy 5, susceptibility to narcolepsy 5 narcolepsy 5, susceptibility to MONDO:0013021 An autoinflammatory disease caused by mutations in the IL1RN gene, which encodes the IL1 receptor antagonist. It presents in infancy, and is characterized by systemic inflammation, pustular rash, bone pain, sterile osteitis, and periostitis. DIRA Interleukin-1 receptor antagonist deficiency OMPP autoinflammatory disease due to interleukin-1 receptor antagonist deficiency deficiency of the Interleukin-1 receptor antagonist Interleukin 1 receptor antagonist deficiency deficiency of interleukin-1 receptor antagonist osteomyelitis, STERILE multifocal, with periostitis and pustulosis sterile multifocal osteomyelitis with periostitis and pustulosis MONDO:0013022 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 RLS7 restless legs syndrome 7 restless legs syndrome, susceptibility to, 7 restless legs syndrome, susceptibility to, 7 MONDO:0013023 OFC12 orofacial cleft 12 cleft lip with or without cleft palate, nonsyndromic, 12 orofacial cleft 12 MONDO:0013024 Chronic thromboembolic pulmonary hypertension (CTEPH) is characterized by the persistence of thromboemboli in the form of organized tissue obstructing the pulmonary arteries. The consequence is an increase in pulmonary vascular resistance (PVR) resulting in pulmonary hypertension (PH) and progressive right heart failure. CTEPH Cteph, Dvt-negative, susceptibility to pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to chronic thromboembolic pulmonary hypertension https://rarediseases.info.nih.gov/diseases/13124/chronic-thromboembolic-pulmonary-hypertension MONDO:0013025 6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss. https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/4521 6q25 microdeletion syndrome Del(6)(q25) chromosome 6q24-q25 deletion syndrome chromosome 6q25-q25 deletion syndrome monosomy 6q25 chromosome 6q25 microdeletion syndrome del(6q25) deletion 6q25 chromosome 6q24-q25 deletion syndrome MONDO:0013026 Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision. SMCD subepithelial mucinous corneal dystrophy corneal dystrophy, subepithelial mucinous subepithelial mucinous corneal dystrophy MONDO:0013027 Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision. PACD posterior amorphous corneal dystrophy posterior amorphous stromal dystrophy chromosome 12Q21.33 deletion syndrome corneal dystrophy, POSTERIOR amorphous posterior amorphous corneal dystrophy MONDO:0013028 Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of AMP deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterised by exercise-induced muscle pain, cramps and/or early fatigue. AMP deaminase deficiency myoadenylate deaminase deficiency adenosine monophosphate deaminase deficiency MONDO:0013029 cerebellar ataxia type 9 SCA9 spinocerebellar ataxia 9 spinocerebellar ataxia type 9 cerebellar ataxia type 9 MONDO:0013030 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene. CMD1BB DSG2 familial isolated dilated cardiomyopathy cardiomyopathy, dilated, type 1Bb dilated cardiomyopathy type 1BB familial isolated dilated cardiomyopathy caused by mutation in DSG2 cardiomyopathy, dilated, 1BB dilated cardiomyopathy 1BB MONDO:0013031 chromosome 5Q14.3 deletion syndrome, distal heterotopia, periventricular, associated with chromosome 5Q deletion periventricular nodular heterotopia 5 chromosome 5Q14.3 deletion syndrome, distal MONDO:0013032 Any generalised epilepsy in which the cause of the disease is a mutation in the CASR gene. https://github.com/monarch-initiative/mondo/issues/2543 https://github.com/monarch-initiative/mondo/issues/4521 CASR generalised epilepsy epilepsy idiopathic generalized, susceptibility to, 8 epilepsy, idiopathic generalized, susceptibility to, 8 epilepsy, idiopathic generalized, susceptibility to, type 8 generalised epilepsy caused by mutation in CASR EIG8 susceptibility to idiopathic generalized epilepsy 8 epilepsy, idiopathic generalized, susceptibility to, 8 MONDO:0013033 Any spastic quadriplegia in which the cause of the disease is a mutation in the KANK1 gene. https://github.com/monarch-initiative/mondo/issues/4768 KANK1 spastic quadriplegia cerebral palsy, spastic quadriplegic, 2 cerebral palsy, spastic quadriplegic, type 2 spastic quadriplegia caused by mutation in KANK1 CPSQ2 cerebral palsy, spastic quadriplegic, 2 MONDO:0013034 Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the DSP gene. DSP striate palmoplantar keratoderma keratosis palmoplantaris striata type 2 striate palmoplantar keratoderma caused by mutation in DSP PPKS2 keratoderma, palmoplantar, striate form 2 keratosis palmoplantaris striata II striate palmoplantar keratoderma 2 keratosis palmoplantaris striata 2 MONDO:0013035 Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects. OFD11 oral-facial-digital syndrome type 11 oral-facial-digital syndrome, Gabrielli type orofaciodigital syndrome XI orofaciodigital syndrome type XI orofaciodigital syndrome, Gabrielli type Gabrielli syndrome OFD syndrome 11 Ofds 11 oral facial digital syndrome 11 oral facial digital syndrome type 11 oral-Facial-digital syndrome with skeletal anomalies oral-Facial-digital syndrome, type 11 orofaciodigital syndrome 11 orofaciodigital syndrome type 11 orofaciodigital syndrome XI https://rarediseases.info.nih.gov/diseases/4118/orofaciodigital-syndrome-11 MONDO:0013036 https://github.com/monarch-initiative/mondo/issues/5588 Zechi-Ceide syndrome occipital atretic cephalocele-unusual facies-large feet syndrome Zechi Ceide syndrome occipital atretic cephalocele, unusual facies and large feet occipital atretic cephalocele, unusual facies, and large feet Zechi-Ceide syndrome https://rarediseases.info.nih.gov/diseases/10582/zechi-ceide-syndrome MONDO:0013037 Giacheti syndrome Marfanoid habitus and specific language and learning disabilities Giacheti syndrome MONDO:0013038 A syndromic disease characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5210 CLOVE syndrome, somatic CLOVES syndrome congenital lipomatous overgrowth, vascular malformations, and epidermal nevi congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome CLOVE syndrome congenital lipomatous overgrowth - vascular malformation - epidermal nevi congenital lipomatous overgrowth, vascular malformations, Epidermal nevi, and skeletal/spinal abnormalities congenital lipomatous overgrowth, vascular malformations, and EPIDERMAL nevi CLOVES syndrome MONDO:0013039 Any 3-M syndrome in which the cause of the disease is a mutation in the OBSL1 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 3-M syndrome 2 3-M syndrome caused by mutation in OBSL1 3M syndrome 2 OBSL1 3-M syndrome three M syndrome 2 three M syndrome type 2 3M2 3M syndrome 2 MONDO:0013040 D-HUS with MCP/CD46 anomaly aHUS with MCP/CD46 anomaly atypical HUS with MCP/CD46 anomaly hemolytic uremic syndrome, atypical, susceptibility to, type 2 hemolytic-uremic syndrome without diarrhea with MCP/CD46 anomaly AHUS, susceptibility to, 2 AHUS2 aHUS2 hemolytic uremic syndrome, atypical, susceptibility to, 2 susceptibility to atypical hemolytic uremic syndrome 2 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly MONDO:0013041 D-HUS with I factor anomaly aHUS with I factor anomaly atypical HUS with I factor anomaly hemolytic uremic syndrome, atypical, susceptibility to, type 3 hemolytic-uremic syndrome without diarrhea with I factor anomaly AHUS3 aHUS, susceptibility to, 3 aHUS3 hemolytic uremic syndrome, atypical, susceptibility to, 3 susceptibility to atypical hemolytic uremic syndrome 3 atypical hemolytic-uremic syndrome with I factor anomaly MONDO:0013042 D-HUS with B factor anomaly aHUS with B factor anomaly atypical HUS with B factor anomaly hemolytic uremic syndrome, atypical, susceptibility to, type 4 hemolytic-uremic syndrome without diarrhea with B factor anomaly AHUS4 aHUS, susceptibility to, 4 aHUS4 hemolytic uremic syndrome, atypical, susceptibility to, 4 susceptibility to atypical hemolytic uremic syndrome 4 atypical hemolytic-uremic syndrome with B factor anomaly MONDO:0013043 D-HUS with C3 anomaly aHUS with C3 anomaly atypical HUS with C3 anomaly hemolytic uremic syndrome, atypical, susceptibility to, type 5 hemolytic-uremic syndrome without diarrhea with C3 anomaly AHUS5 Ahus, susceptibility to, 5 hemolytic uremic syndrome, atypical, susceptibility to, 5 susceptibility to atypical hemolytic uremic syndrome 5 atypical hemolytic-uremic syndrome with C3 anomaly MONDO:0013044 D-HUS with thrombomodulin anomaly aHUS with thrombomodulin anomaly atypical HUS with thrombomodulin anomaly hemolytic uremic syndrome, atypical, susceptibility to, type 6 hemolytic-uremic syndrome without diarrhea with thrombomodulin anomaly AHUS6 Ahus, susceptibility to, 6 hemolytic uremic syndrome, atypical, susceptibility to, 6 susceptibility to atypical hemolytic uremic syndrome 6 atypical hemolytic-uremic syndrome with thrombomodulin anomaly MONDO:0013045 Mycobacterium tuberculosis, susceptibility to, type 3 mycobacterium tuberculosis, susceptibility to, 3 MTBS3 mycobacterium tuberculosis, susceptibility to, 3 MONDO:0013046 Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle. https://github.com/monarch-initiative/mondo/issues/4985 GSD due to muscle beta-enolase deficiency GSDXIII glycogen storage disease due to muscle beta-enolase deficiency glycogen storage disease type 13 glycogenosis due to muscle beta-enolase deficiency glycogenosis type 13 muscle enolase deficiency muscular enolase deficiency GSD 13 GSD13 enolase 3 deficiency enolase-Beta deficiency glycogen storage disease 13 glycogen storage disease XIII glycogen storage disease due to muscle beta-enolase deficiency MONDO:0013047 A condition that affects how the body breaks down sugar to use as energy in muscle cells. People withthis conditionexperience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people,high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue (rhabdomyolysis), which can lead to myoglobinuria (rust-colored urine indicating breakdown of muscle tissue) and kidney damage. A skin rash may also develop. The severity of the signs and symptoms varies greatly among affected individuals. Lactate dehydrogenase A deficiency is caused by mutations in the LDHA gene. This condition is inherited in an autosomal recessive pattern. https://github.com/monarch-initiative/mondo/issues/4985 GSD due to lactate dehydrogenase M-subunit deficiency LDH-M subunit deficiency LDHA glycogen storage disease glycogen storage disease caused by mutation in LDHA glycogenosis due to lactate dehydrogenase M-subunit deficiency lactate dehydrogenase A deficiency GSD 11 GSD XI GSD type 11 GSD11 glycogen storage disease XI glycogen storage disease type 11 glycogenosis type 11 lactate dehydrogenase deficiency type A glycogen storage disease due to lactate dehydrogenase M-subunit deficiency https://rarediseases.info.nih.gov/diseases/3160/lactate-dehydrogenase-a-deficiency MONDO:0013048 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4M1 gene. AP4M1 hereditary spastic paraplegia SPG50 autosomal recessive spastic paraplegia 50 hereditary spastic paraplegia caused by mutation in AP4M1 hereditary spastic paraplegia type 50 spastic quadriplegic cerebral palsy 3 cerebral palsy, spastic quadriplegic, 3 cerebral palsy, spastic quadriplegic, 3, formerly spastic paraplegia 50, autosomal recessive hereditary spastic paraplegia 50 MONDO:0013049 DPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy. https://github.com/monarch-initiative/mondo/issues/4521 CDG syndrome type Io CDG-Io CDG1O DPM3-CDG DPM3-congenital disorder of glycosylation carbohydrate deficient glycoprotein syndrome type Io congenital disorder of glycosylation type 1o congenital disorder of glycosylation type Io muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 CDG Io CDGIo Cdg1(Dpm3) DG1O DPM3-CDG (CDG-Io) congenital disorder of glycosylation, type Io DPM3-congenital disorder of glycosylation MONDO:0013050 https://github.com/monarch-initiative/mondo/issues/4521 growth retardation, developmental delay, facial dysmorphism GDFD growth retardation, developmental delay, and facial dysmorphism lethal polymalformative syndrome, Boissel type MONDO:0013051 Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported. https://github.com/monarch-initiative/mondo/issues/4948 ARCL2, progeroid type ARCL2B PYCR1 autosomal recessive cutis laxa type 2 autosomal recessive cutis laxa type 2 caused by mutation in PYCR1 autosomal recessive cutis laxa type 2, progeroid type autosomal recessive cutis laxa type 2B autosomal recessive cutis laxa type IIB cutis laxa with progeroid features cutis laxa, autosomal recessive type 2B cutis laxa, autosomal recessive, type 2B cutis laxa, autosomal recessive, type IIB autosomal recessive cutis laxa type 2B https://rarediseases.info.nih.gov/diseases/1641/cutis-laxa-autosomal-recessive-type-2b MONDO:0013052 Any retinitis pigmentosa in which the cause of the disease is a mutation in the KLHL7 gene. KLHL7 retinitis pigmentosa RP42 retinitis pigmentosa 42 retinitis pigmentosa caused by mutation in KLHL7 retinitis pigmentosa type 42 retinitis pigmentosa 42 MONDO:0013053 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities. Hadziselimovic syndrome microcephaly-faciocardioskeletal syndrome microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type MONDO:0013054 microcephaly, growth retardation, cataract, hearing loss, and unusual appearance microcephaly, growth retardation, cataract, hearing loss, and unusual appearance MONDO:0013055 Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features Stargardt macular degeneration, absent or hypoplastic corpus callosum, mental retardation, and dysmorphic features Stargardt macular degeneration absent or hypoplastic corpus callosum intellectual disability and dysmorphic features Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features https://rarediseases.info.nih.gov/diseases/10683/stargardt-macular-degeneration-absent-or-hypoplastic-corpus-callosum-mental-retardation-and-dysmorphic-features MONDO:0013056 A rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease. https://github.com/monarch-initiative/mondo/issues/4521 AGC1 deficiency DEE39 EIEE39 SLC25A12 early infantile epileptic encephalopathy developmental and epileptic encephalopathy 39 early infantile epileptic encephalopathy caused by mutation in SLC25A12 epileptic encephalopathy with global cerebral demyelination epileptic encephalopathy, early infantile, 39 mitochondrial aspartate-glutamate carrier 1 deficiency aspartate-glutamate carrier 1 deficiency hypomyelination, global cerebral developmental and epileptic encephalopathy, 39 MONDO:0013057 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 PSORS12 psoriasis 12, susceptibility to psoriasis susceptibility 12 psoriasis 12, susceptibility to MONDO:0013058 Cystic leukoencephalopathy without megalencephaly is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive. CLWM RNAse T2-deficient leukoencephalopathy leukoencephalopathy, cystic, without megalencephaly cystic leukoencephalopathy without megalencephaly MONDO:0013059 Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the SAMHD1 gene. Aicardi-Goutieres syndrome 5 Aicardi-Goutieres syndrome caused by mutation in SAMHD1 Aicardi-Goutieres syndrome type 5 SAMHD1 Aicardi-Goutieres syndrome AGS5 SAMHD1-related Aicardi-Goutieres syndrome Aicardi-Goutieres syndrome 5 MONDO:0013060 A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline. PARK14 PLA2G6 hereditary late onset Parkinson disease PLA2G6-related dystonia-parkinsonism autosomal recessive Parkinson disease type 14 dystonia-Parkinsonism Adult-onset dystonia-parkinsonism, Paisan-Ruiz type hereditary late onset Parkinson disease caused by mutation in PLA2G6 Parkinson disease 14, autosomal recessive adult-onset dystonia - parkinsonism autosomal recessive Parkinson's disease 14 dystonia-Parkinsonism, adult-onset autosomal recessive Parkinson disease 14 MONDO:0013061 Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly. BAG3 myofibrillar myopathy (disease) myofibrillar myopathy (disease) caused by mutation in BAG3 myofibrillar myopathy 6 myofibrillar myopathy type 6 myopathy, myofibrillar, type 6 BAG3-related myofibrillar myopathy MFM6 muscular dystrophy, Selcen type myopathy, myofibrillar, 6 myopathy, myofibrillar, Bag3-related myofibrillar myopathy 6 MONDO:0013062 Any long QT syndrome in which the cause of the disease is a mutation in the SNTA1 gene. LQT12 SNTA1 long QT syndrome long QT syndrome 12 long QT syndrome caused by mutation in SNTA1 long QT syndrome type 12 long QT syndrome 12 MONDO:0013063 Any ventricular fibrillation in which the cause of the disease is a mutation in the DPP6 gene. DPP6 ventricular fibrillation (disease) ventricular fibrillation (disease) caused by mutation in DPP6 ventricular fibrillation, paroxysmal familial, 2 ventricular fibrillation, paroxysmal familial, type 2 VF2 ventricular fibrillation, paroxysmal familial, 2 MONDO:0013064 Any multiple synostoses syndrome in which the cause of the disease is a mutation in the FGF9 gene. https://github.com/monarch-initiative/mondo/issues/4948 FGF9 multiple synostoses syndrome multiple synostoses syndrome 3 multiple synostoses syndrome caused by mutation in FGF9 multiple synostoses syndrome type 3 SYNS3 multiple synostoses syndrome 3 MONDO:0013065 Any primary ovarian failure in which the cause of the disease is a mutation in the NR5A1 gene. https://github.com/monarch-initiative/mondo/issues/4521 adrenocortical insufficiency NR5A1 primary ovarian failure premature ovarian failure 7 premature ovarian failure type 7 primary ovarian failure caused by mutation in NR5A1 Pof7 adrenal insufficiency, Nr5A1-related premature ovarian failure 7 MONDO:0013066 https://github.com/monarch-initiative/mondo/issues/4521 46,XY Sex reversal type 3 46,XY sex reversal 3 46XY sex reversal 3 46,XY SEX reversal 3 46,XY Sex reversal, partial or complete, Nr5A1-related 46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure SRXY3 Sex reversal, XY, with or without adrenal failure disorder of Sex development, 46,XY, Nr5A1-related 46,XY sex reversal 3 MONDO:0013067 Any cataract (disease) in which the cause of the disease is a mutation in the FOXE3 gene. CATC3 CTRCT34 FOXE3 cataract (disease) autosomal recessive congenital cataract 3 cataract (disease) caused by mutation in FOXE3 cataract 34 multiple types with or without microcornea cataract 34, multiple types cataract 34, multiple types, with or without microcornea cataract, autosomal recessive congenital 3 cataract 34 multiple types MONDO:0013068 ARHI2 age-related hearing impairment 2 presbycusis 2 age-related hearing impairment 2 MONDO:0013069 https://github.com/monarch-initiative/mondo/issues/4521 optic atrophy 7 OPA7 optic atrophy 7 with or without auditory neuropathy autosomal recessive optic atrophy, OPA7 type MONDO:0013070 spermatogenic failure 7 spermatogenic failure type 7 Male infertility, nonsyndromic, autosomal recessive SPGF7 spermatogenic failure 7 MONDO:0013071 Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE1 gene. Emery-Dreifuss muscular dystrophy 4, autosomal dominant SYNE1 autosomal dominant Emery-Dreifuss muscular dystrophy autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in SYNE1 EDMD4 EMERY-Dreifuss muscular dystrophy 4, autosomal dominant Emery-Dreifuss muscular dystrophy 4 with variable features Emery-Dreifuss muscular dystrophy 4, autosomal dominant MONDO:0013072 Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE2 gene. Emery-Dreifuss muscular dystrophy 5, autosomal dominant SYNE2 autosomal dominant Emery-Dreifuss muscular dystrophy autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in SYNE2 EDMD5 EMERY-Dreifuss muscular dystrophy 5, autosomal dominant Emery-Dreifuss muscular dystrophy 5, autosomal dominant MONDO:0013073 Any nonepidermolytic palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT16 gene. https://github.com/monarch-initiative/mondo/issues/3108 https://github.com/monarch-initiative/mondo/issues/4521 KRT16 nonepidermolytic palmoplantar keratoderma nonepidermolytic palmoplantar keratoderma caused by mutation in KRT16 palmoplantar keratoderma, nonepidermolytic, focal palmoplantar keratoderma, nonepidermolytic, focal 1 palmoplantar keratoderma, nonepidermolytic, focal type 1 FNEPPK1 Ppkfne focal nonepidermolytic palmoplantar keratoderma keratoderma, focal nonepidermolytic palmoplantar palmoplantar keratoderma, nonepidermolytic, focal 1 MONDO:0013074 A rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations. https://github.com/monarch-initiative/mondo/issues/4521 ECCL Fishman syndrome Haberland syndrome encephalocraniocutaneous lipomatosis encephalocraniocutaneous lipomatosis, somatic mosaic encephalocraniocutaneous lipomatosis https://rarediseases.info.nih.gov/diseases/2108/encephalocraniocutaneous-lipomatosis MONDO:0013075 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 Herpes simplex encephalitis, susceptibility to, type 2 herpes simplex encephalitis, susceptibility to, 2 IIAE2 encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 2 encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 2 encephalopathy, acute, infection-induced, susceptibility to, 2 herpes simplex encephalitis, susceptibility to, 2 MONDO:0013076 ADHD7 attention Deficit-hyperactivity disorder, susceptibility to, type 7 attention deficit-hyperactivity disorder, susceptibility to, 7 susceptibility to attention deficit-hyperactivity disorder 7 attention deficit-hyperactivity disorder, susceptibility to, 7 MONDO:0013077 Santos syndrome fibular agenesis/hypoplasia, oligodactylous clubfeet, and anonychia/nail hypoplasia syndrome Santos syndrome MONDO:0013078 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 10q23.31. https://github.com/monarch-initiative/mondo/issues/5033 IDDM24 insulin-dependent diabetes mellitus 24 diabetes mellitus, insulin-dependent, 24 type 1 diabetes mellitus 24 MONDO:0013079 PBC2 biliary cirrhosis, primary, 2 primary biliary cholangitis 2 MONDO:0013080 PBC3 biliary cirrhosis, primary, 3 primary biliary cholangitis 3 MONDO:0013081 A condition of decreased or absent presence or activity of IL2-inducible t-cell kinase. Deficiency of this protein is associated with lymphoproliferative syndrome 1, an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia.. ITK deficiency ITK lymphoproliferative syndrome LPFS1 lymphoproliferative syndrome 1 lymphoproliferative syndrome caused by mutation in ITK lymphoproliferative syndrome type 1 lymphoproliferative syndrome 1 MONDO:0013082 A rare, genetic, developmental defect during embryogenesis syndrome characterized by total or partial colonic aganglionosis associated with peripheral, usually multifocal, neuroblastic tumors (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction, is occasionally associated. Hirschsprung disease ganglioneuroblastoma neuroblastoma with Hirschsprung disease Hirschsprung disease-ganglioneuroblastoma syndrome MONDO:0013083 Any neuroblastoma in which the cause of the disease is a mutation in the ALK gene. ALK neuroblastoma neuroblastoma caused by mutation in ALK neuroblastoma, susceptibility to, 3 neuroblastoma, susceptibility to, type 3 NBLST3 susceptibility to neuroblastoma 3 neuroblastoma, susceptibility to, 3 MONDO:0013084 NBLST4 neuroblastoma, susceptibility to, 4 neuroblastoma, susceptibility to, 4 MONDO:0013085 NBLST5 neuroblastoma, susceptibility to, 5 neuroblastoma, susceptibility to, 5 MONDO:0013086 NBLST6 neuroblastoma, susceptibility to, 6 neuroblastoma, susceptibility to, 6 MONDO:0013087 Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1A gene. SCNN1A bronchiectasis bronchiectasis caused by mutation in SCNN1A bronchiectasis with or without elevated sweat chloride 2 bronchiectasis with or without elevated sweat chloride type 2 BESC2 cystic fibrosis-like syndrome bronchiectasis with or without elevated sweat chloride 2 MONDO:0013088 https://github.com/monarch-initiative/mondo/issues/4882 FL1 follicular lymphoma, susceptibility to, 1 follicular lymphoma, susceptibility to, 1 MONDO:0013089 A schizophrenia that has material basis in a mutation on chromosome 15q13. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 SCZD13 schizophrenia 13 schizophrenia susceptibility locus, chromosome 15Q13-q14-related schizophrenia, susceptibility to, 13 schizophrenia, Neurophysiologic defect 1N schizophrenia 13 MONDO:0013090 The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails. https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/5588 19q13.11 microdeletion syndrome Del(19)(q13.11) monosomy 19q13.11 chromosome 19Q13.11 deletion syndrome, distal chromosome 19q13.11 deletion syndrome, distal chromosome 19q13.11 deletion syndrome https://rarediseases.info.nih.gov/diseases/10592/chromosome-19q1311-deletion-syndrome MONDO:0013091 A liver PhK deficiency caused by variants in the PHKG2 gene GSD type 9C GSD type IXc GSD9C PHKG2 glycogen storage disease PHKG2-related glycogen storage disease type IX glycogen storage disease IXc glycogen storage disease caused by mutation in PHKG2 glycogen storage disease type IXc GSD IXc glycogen storage disease IXc MONDO:0013092 Any malignant glioma in which the cause of the disease is a mutation in the PTEN gene. PTEN malignant glioma glioma susceptibility 2 glioma susceptibility type 2 malignant glioma caused by mutation in PTEN GLM2 glioma susceptibility 2 MONDO:0013093 Any malignant glioma in which the cause of the disease is a mutation in the BRCA2 gene. https://github.com/monarch-initiative/mondo/issues/4521 BRCA2 malignant glioma glioblastoma 3 glioma susceptibility 3 glioma susceptibility type 3 malignant glioma caused by mutation in BRCA2 GLM3 glioma susceptibility 3 MONDO:0013094 GLM5 glioma susceptibility 5 glioma susceptibility 5 MONDO:0013095 GLM6 glioma susceptibility 6 glioma susceptibility 6 MONDO:0013096 GLM7 glioma susceptibility 7 glioma susceptibility 7 MONDO:0013097 GLM8 glioma susceptibility 8 glioma susceptibility 8 MONDO:0013098 A condition in which a person loses the ability to hear due to exposure to high intensity sound. noise-induced hearing loss NIHL hearing loss, noise-induced, susceptibility to noise induced hearing loss MONDO:0013099 Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy. familial congenital hypopituitarism genetic hypopituitarism multiple pituitary hormone deficiencies, genetic forms pituitary hormone deficiency, combined combined pituitary hormone deficiencies, genetic forms familial hypopituitarism combined pituitary hormone deficiencies, genetic form https://rarediseases.info.nih.gov/diseases/2252/familial-hypopituitarism MONDO:0013100 ATFB8 atrial fibrillation, familial, 8 atrial fibrillation, familial, 8 MONDO:0013101 https://github.com/monarch-initiative/mondo/issues/4882 BCC2 basal cell carcinoma, susceptibility to, 2 basal cell carcinoma, susceptibility to, 2 MONDO:0013102 https://github.com/monarch-initiative/mondo/issues/4882 BCC3 basal cell carcinoma, susceptibility to, 3 basal cell carcinoma, susceptibility to, 3 MONDO:0013103 An inherited susceptibility or predisposition to developing epilepsy, idiopathic generalized, in which the cause of the disease is a mutation in the GABRD gene. https://github.com/monarch-initiative/mondo/issues/2543 https://github.com/monarch-initiative/mondo/issues/4521 EIG10 epilepsy, idiopathic generalized, 10 epilepsy, idiopathic generalized, susceptibility to, 10 epilepsy, idiopathic generalized, susceptibility to, type 10 epilepsy, juvenile myoclonic, susceptibility to susceptibility to idiopathic generalized epilepsy 10 GEFS+, type 5, susceptibility to GEFS+5, susceptibility to GEFSP5, susceptibility to epilepsy, juvenile myoclonic, susceptibility to, 7 generalized epilepsy with febrile seizures plus, type 5, susceptibility to epilepsy, idiopathic generalized, susceptibility to, 10 MONDO:0013104 https://github.com/monarch-initiative/mondo/issues/4882 BCC4 basal cell carcinoma, susceptibility to, 4 basal cell carcinoma, susceptibility to, 4 MONDO:0013105 https://github.com/monarch-initiative/mondo/issues/4882 BCC5 basal cell carcinoma, susceptibility to, 5 basal cell carcinoma, susceptibility to, 5 MONDO:0013106 https://github.com/monarch-initiative/mondo/issues/4882 BCC6 basal cell carcinoma, susceptibility to, 6 basal cell carcinoma, susceptibility to, 6 MONDO:0013107 An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 11q13.5. https://github.com/monarch-initiative/mondo/issues/4521 ATOD7 atopic dermatitis 7 atopic dermatitis type 7 dermatitis, atopic, susceptibility to, 7 dermatitis, ATOPIC, 7 dermatitis, atopic, 7 MONDO:0013108 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 T-cell acute lymphoblastic leukemia, somatic leukemia, T-cell acute lymphoblastic, somatic leukemia, T-cell acute lymphocytic, somatic leukemia, acute lymphoblastic, somatic leukemia, acute lymphocytic, Philadelphia chromosome positive, somatic leukemia, acute lymphocytic, susceptibility to, 1 ALL All1 leukemia, B-cell acute lymphoblastic, susceptibility to leukemia, T-cell acute lymphoblastic, susceptibility to leukemia, acute lymphoblastic leukemia, acute lymphoblastic, B-Hyperdiploid, susceptibility to leukemia, acute lymphoblastic, susceptibility to, 1 leukemia, acute lymphocytic, susceptibility to, 1 MONDO:0013109 https://github.com/monarch-initiative/mondo/issues/4882 leukemia, acute lymphocytic, susceptibility to, 2 ALL2 leukemia, acute lymphoblastic, susceptibility to, 2 leukemia, acute lymphocytic, susceptibility to, 2 MONDO:0013110 cerebral folate receptor alpha deficiency neurodegenerative syndrome due to cerebral folate transport deficiency cerebral folate deficiency syndrome cerebral folate transport deficiency neurodegeneration due to cerebral folate TRANSPORT deficiency neurodegenerative syndrome due to cerebral folate transport deficiency MONDO:0013111 Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia. https://github.com/monarch-initiative/mondo/issues/4521 acute infantile liver failure LFIT TRMU infantile liver failure acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins infantile liver failure caused by mutation in TRMU liver failure, infantile, transient liver failure, transient infantile transient infantile liver failure Editor note: add transient course acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MONDO:0013112 Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1G gene. SCNN1G bronchiectasis bronchiectasis caused by mutation in SCNN1G bronchiectasis with or without elevated sweat chloride 3 bronchiectasis with or without elevated sweat chloride type 3 BESC3 cystic fibrosis-like syndrome bronchiectasis with or without elevated sweat chloride 3 MONDO:0013113 Any metaphyseal anadysplasia in which the cause of the disease is a mutation in the MMP9 gene. https://github.com/monarch-initiative/mondo/issues/4948 MMP9 metaphyseal anadysplasia metaphyseal anadysplasia 2 metaphyseal anadysplasia caused by mutation in MMP9 metaphyseal anadysplasia type 2 MANDP2 metaphyseal anadysplasia 2 MONDO:0013114 An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has material basis in mutation in the MIRN96 gene on chromosome 7q32. https://github.com/monarch-initiative/mondo/issues/551 DFNA50 autosomal dominant deafness 50 autosomal dominant nonsyndromic deafness 50 autosomal dominant nonsyndromic deafness type 50 deafness, autosomal dominant type 50 deafness, autosomal dominant 50 autosomal dominant nonsyndromic hearing loss 50 MONDO:0013115 RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported. MACS syndrome RIN2 deficiency RIN2 syndrome macrocephaly-alopecia-cutis laxa-scoliosis syndrome tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome macrocephaly, alopecia, cutis laxa, and scoliosis tall forehead, sparse hair, skin hyperextensibility, and scoliosis RIN2 syndrome MONDO:0013116 https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome myopathy, mitochondrial progressive, with congenital cataract and developmental delay mitochondrial Complex deficiency, combined myopathy with cataract and combined respiratory chain deficiency myopathy with cataract and combined respiratory-chain deficiency myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome MONDO:0013117 Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RRM2B gene. RRM2B progressive external ophthalmoplegia with mitochondrial DNA deletions progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in RRM2B progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 5 PEOA5 progressive external ophthalmoplegia, autosomal dominant 5 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 MONDO:0013118 Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly. https://github.com/monarch-initiative/mondo/issues/5347 NBSLD NBs-like disorder Nijmegen breakage syndrome-like disorder RAD50 deficiency microcephaly and chromosomal instability without immunodeficiency Rad50 deficiency microcephaly and spontaneous chromosome instability without immunodeficiency Nijmegen breakage syndrome-like disorder MONDO:0013119 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LOXHD1 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB77 LOXHD1 autosomal recessive nonsyndromic deafness autosomal recessive deafness 77 autosomal recessive nonsyndromic deafness 77 autosomal recessive nonsyndromic deafness caused by mutation in LOXHD1 autosomal recessive nonsyndromic deafness type 77 deafness, autosomal recessive 77 deafness, autosomal recessive type 77 autosomal recessive nonsyndromic hearing loss 77 MONDO:0013120 https://github.com/monarch-initiative/mondo/issues/4521 46,XY Sex reversal type 5 46,XY sex reversal 5 46XY sex reversal 5 46,XY SEX reversal 5 46,XY Sex reversal, Cbx2-related 46,XY gonadal dysgenesis, complete, Cbx2-related SRXY5 Sex reversal, XY, Cbx2-related disorder of Sex development, 46,XY, Cbx2-related 46,XY sex reversal 5 MONDO:0013121 GLC3C glaucoma 3, primary congenital, C glaucoma 3, primary congenital, C MONDO:0013122 https://github.com/monarch-initiative/mondo/issues/5787 glaucoma 3, primary congenital, D glaucoma 3, primary congenital, type D GLC3D glaucoma 3, primary congenital, D MONDO:0013123 Any atrial heart septal defect in which the cause of the disease is a mutation in the TLL1 gene. ASD6 TLL1 atrial heart septal defect atrial heart septal defect caused by mutation in TLL1 atrial heart septal defect type 6 atrial septal defect 6 atrial septal defect type 6 atrial septal defect 6 MONDO:0013124 https://github.com/monarch-initiative/mondo/issues/4882 pelvic organ prolapse, susceptibility to, 2 pelvic organ prolapse, susceptibility to, type 2 Pvop2 pelvic organ prolapse, susceptibility to, 2 MONDO:0013125 CLAPO syndrome is a newly described syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O). https://github.com/monarch-initiative/mondo/issues/4521 CLAPO syndrome, somatic Clapo Lopez-Gutierrez syndrome capillary malformation of the LOWER LIP, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth CLAPO syndrome MONDO:0013127 An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22. https://github.com/monarch-initiative/mondo/issues/4148 https://github.com/monarch-initiative/mondo/issues/4948 ATD3 SRPS type 1 SRPS type 3 SRPS1 SRPS2B SRPS3 SRTD3 Saldino-Noonan syndrome Verma-Naumoff syndrome asphyxiating thoracic dystrophy 3 asphyxiating thoracic dystrophy type 3 polydactyly with neonatal chondrodystrophy type 1 polydactyly with neonatal chondrodystrophy type III polydactyly with neonatal chondrodystrophy, type 3 polydactyly with neonatal chondrodystrophy, type I short rib polydactyly syndrome Verma Naumoff type short rib-polydactyly syndrome Saldino-Noonan type short rib-polydactyly syndrome type 1 short rib-polydactyly syndrome type 3 short rib-polydactyly syndrome type III short rib-polydactyly syndrome, type 2B short rib-polydactyly syndrome, type IIB short-rib thoracic dysplasia 3 with or without polydactyly type I short rib polydactyly syndrome asphyxiating thoracic dystrophy 3 MONDO:0013128 Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS). https://github.com/monarch-initiative/mondo/issues/4521 ADTKD-REN FJHN type 2 REN familial juvenile hyperuricemic nephropathy REN-associated FJHN REN-associated familial juvenile hyperuricemic nephropathy REN-associated kidney disease autosomal dominant tubulointerstitial kidney disease due to mutations in REN familial juvenile hyperuricemic nephropathy caused by mutation in REN familial juvenile hyperuricemic nephropathy type 2 hyperuricemic nephropathy, familial juvenile, type 2 tubulointerstitial kidney disease, autosomal dominant, 4 HNFJ2 REN-related autosomal dominant tubulointerstitial kidney disease early-onset hyperuricemia, Anemia, and progressive kidney failure hyperuricemic nephropathy, familial juvenile, 2 familial juvenile hyperuricemic nephropathy type 2 MONDO:0013129 Any cone dystrophy in which the cause of the disease is a mutation in the PDE6C gene. PDE6C cone dystrophy cone dystrophy 4 cone dystrophy caused by mutation in PDE6C cone dystrophy type 4 COD4 achromatopsia 5 cone dystrophy 4 MONDO:0013130 Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF6 gene. GDF6 isolated microphthalmia MCOP4 isolated microphthalmia caused by mutation in GDF6 isolated microphthalmia type 4 microphthalmia, isolated type 4 microphthalmia, isolated 4 isolated microphthalmia 4 MONDO:0013131 Autosomal dominant polycystic kidney disease caused by a mutation in PKD2. APKD2 Autosomal dominant polycystic kidney disease type 2 PKD2 PKD2 autosomal dominant polycystic kidney disease autosomal dominant polycystic kidney disease caused by mutation in PKD2 polycystic kidney disease 2 polycystic kidney disease type 2 polycystic kidney disease, adult, type II polycystic kidney disease 2 with or without polycystic liver disease polycystic kidney disease, adult, type 2 polycystic kidney disease 2 MONDO:0013132 Autosomal dominant spastic paraplegia type 36 (SPG36) is a complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy. SPG36 autosomal dominant spastic paraplegia 36 autosomal dominant spastic paraplegia type 36 hereditary spastic paraplegia type 36 spastic paraplegia 36, autosomal dominant hereditary spastic paraplegia 36 MONDO:0013133 https://github.com/monarch-initiative/mondo/issues/4521 melanoma, cutaneous malignant, 5 melanoma, cutaneous malignant, susceptibility to, 5 melanoma, cutaneous malignant, susceptibility to, type 5 CMM5 susceptibility to cutaneous malignant melanoma 5 melanoma, cutaneous malignant, susceptibility to, 5 MONDO:0013134 Any open-angle glaucoma in which the cause of the disease is a mutation in the NTF4 gene. https://github.com/monarch-initiative/mondo/issues/4521 NTF4 open-angle glaucoma glaucoma 1, open angle, 1O glaucoma 1, open angle, O glaucoma 1, open angle, type O open-angle glaucoma caused by mutation in NTF4 GLC1O glaucoma 1, open angle, O MONDO:0013135 Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STXBP2 gene. https://github.com/monarch-initiative/mondo/issues/4521 FHL5 HLH5 HPLH5 STXBP2 genetic hemophagocytic lymphohistiocytosis familial hemophagocytic lymphohistiocytosis type 5 genetic hemophagocytic lymphohistiocytosis caused by mutation in STXBP2 hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease hemophagocytic lymphohistiocytosis, familial, type 5 hemophagocytic lymphohistiocytosis, familial, 5 familial hemophagocytic lymphohistiocytosis 5 MONDO:0013136 Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid. hereditary hypotrichosis with recurrent skin vesicles hypotrichosis and recurrent skin vesicles hereditary hypotrichosis with recurrent skin vesicles MONDO:0013137 Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the PRPH2 gene. PRPH2 central areolar choroidal dystrophy central areolar choroidal dystrophy caused by mutation in PRPH2 choroidal dystrophy, central areolar 2 choroidal dystrophy, central areolar type 2 CACD2 macular dystrophy, progressive choroidal dystrophy, central areolar 2 MONDO:0013138 BRV2 vertigo, benign recurrent, 2 vertigo, benign recurrent, 2 MONDO:0013139 Any autosomal dominant severe congenital neutropenia in which the cause of the disease is a mutation in the GFI1 gene. https://github.com/monarch-initiative/mondo/issues/4521 GFI1 autosomal dominant severe congenital neutropenia autosomal dominant severe congenital neutropenia caused by mutation in GFI1 neutropenia, severe congenital 2, autosomal dominant neutropenia, severe congenital, 2, autosomal dominant SCN2 neutropenia, severe congenital, 2, autosomal dominant MONDO:0013140 Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the CLEC7A gene. https://github.com/monarch-initiative/mondo/issues/4521 CLEC7A familial chronic mucocutaneous candidiasis candidiasis, familial, 4 candidiasis, familial, 4, autosomal recessive candidiasis, familial, type 4 familial chronic mucocutaneous candidiasis caused by mutation in CLEC7A CANDF4 candidiasis, familial chronic mucocutaneous candidiasis, familial, 4 MONDO:0013142 Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the RETREG1 gene. HSAN2B RETREG1 hereditary sensory and autonomic neuropathy type 2 hereditary sensory and autonomic neuropathy type 2 caused by mutation in RETREG1 hereditary sensory and autonomic neuropathy type IIB neuropathy, hereditary sensory and autonomic, type 2B hereditary sensory and autonomic neuropathy type 2B neuropathy, hereditary sensory and autonomic, type IIB neuropathy, hereditary sensory and autonomic, type 2B MONDO:0013143 https://github.com/monarch-initiative/mondo/issues/4521 hereditary thrombophilia due to congenital HRG deficiency thrombophilia 11 due to HRG deficiency THPH11 thrombophilia due to elevated histidine-rich glycoprotein thrombophilia due to histidine-rich glycoprotein deficiency hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency MONDO:0013144 A rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins). https://github.com/monarch-initiative/mondo/issues/4521 AT III deficiency AT3D antithrombin 3 deficiency antithrombin III deficiency congenital AT-III deficiency congenital antithrombin III deficiency hereditary antithrombin deficiency hereditary thrombophilia due to congenital antithrombin 3 deficiency hereditary thrombophilia due to congenital antithrombin deficiency inherited antithrombin deficiency thrombophilia 7 due to antithrombin III deficiency thrombophilia due to antithrombin 3 deficiency thrombophilia due to antithrombin III deficiency hereditary antithrombin deficiency MONDO:0013145 Any Brugada syndrome in which the cause of the disease is a mutation in the KCNE3 gene. BRGDA6 Brugada syndrome 6 Brugada syndrome caused by mutation in KCNE3 Brugada syndrome type 6 KCNE3 Brugada syndrome Brugada syndrome 6 MONDO:0013146 Any Brugada syndrome in which the cause of the disease is a mutation in the SCN3B gene. BRGDA7 Brugada syndrome 7 Brugada syndrome caused by mutation in SCN3B Brugada syndrome type 7 SCN3B Brugada syndrome atrial fibrillation, familial, 16 Brugada syndrome 7 MONDO:0013147 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene. CMD1CC NEXN familial isolated dilated cardiomyopathy cardiomyopathy, dilated, type 1Cc dilated cardiomyopathy type 1CC familial isolated dilated cardiomyopathy caused by mutation in NEXN cardiomyopathy, dilated, 1CC dilated cardiomyopathy 1CC MONDO:0013148 Any Brugada syndrome in which the cause of the disease is a mutation in the HCN4 gene. BRGDA8 Brugada syndrome 8 Brugada syndrome caused by mutation in HCN4 Brugada syndrome type 8 HCN4 Brugada syndrome Brugada syndrome 8 MONDO:0013149 hydrops fetalis, nonimmune, with gracile bones and dysmorphic features hydrops fetalis, nonimmune, with gracile bones and dysmorphic features MONDO:0013150 Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal. IPD PARKINSONISM-dystonia, infantile PKDYS Parkinsonism-dystonia infantile dopamine transporter deficiency syndrome infantile Parkinsonism-dystonia parkinsonism-dystonia, infantile parkinsonism-dystonia, infantile MONDO:0013151 CACD3 choroidal dystrophy, central areolar, 3 choroidal dystrophy, central areolar, with or without drusen choroidal dystrophy, central areolar, 3 MONDO:0013152 SLEB14 systemic lupus erythematosus, susceptibility to, 14 systemic lupus erythematosus, susceptibility to, 14 MONDO:0013153 Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RA gene. https://github.com/monarch-initiative/mondo/issues/4521 IBD28 IL10RA inflammatory bowel disease early onset autosomal recessive inflammatory bowel disease 28 inflammatory bowel disease 28 inflammatory bowel disease 28, autosomal recessive inflammatory bowel disease 28, early onset, autosomal recessive inflammatory bowel disease caused by mutation in IL10RA inflammatory bowel disease type 28 inflammatory bowel disease, early-onset, autosomal recessive inflammatory bowel disease 28 MONDO:0013154 An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation. https://github.com/monarch-initiative/mondo/issues/4069 MDDGA2 Walker-Warburg syndrome or muscle-eye-brain disease, Pomt2-related muscle-eye-brain-POMT2 related muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 2 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 MONDO:0013155 https://github.com/monarch-initiative/mondo/issues/4069 congenital muscular dystrophy-POMGNT1 related MDDGB3 muscular dystrophy, congenital, POMGNT1-related muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 3 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 MONDO:0013156 https://github.com/monarch-initiative/mondo/issues/4069 congenital muscular dystrophy-FKTN related MDDGB4 muscular dystrophy, congenital, Fktn-related muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B, 4 muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 MONDO:0013157 https://github.com/monarch-initiative/mondo/issues/4069 muscle-eye-brain-FKRP related MDDGA5 Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 MONDO:0013158 An autosomal recessive muscular dystrophy caused by mutations in the LARGE gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life. https://github.com/monarch-initiative/mondo/issues/4069 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 6 MDDGA6 Walker-Warburg syndrome or muscle-eye-brain disease, large-related muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 MONDO:0013159 https://github.com/monarch-initiative/mondo/issues/4069 congenital muscular dystrophy-POMT1 related MDDGB1 muscular dystrophy, congenital, Pomt1-related muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 1 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 MONDO:0013160 An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the POMT2 gene. It is characterized by mental retardation and mild structural brain abnormalities resulting from defective glycosylation of alpha-dystroglycan. congenital muscular dystrophy-POMT2 related congenital muscular dystrophy-dystroglycanopathy with intellectual disability type B2 congenital muscular dystrophy-dystroglycanopathy with mental retardation type B2 MDDGB2 muscular dystrophy, congenital, Pomt2-related muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 2 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 MONDO:0013161 Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia. LGMD-POMGNT1 related LGMD2O MDDGC3 POMGNT1 autosomal recessive limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMGNT1 muscular dystrophy-dystroglycanopathy (limb-girdle) type C3 muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related limb-girdle muscular dystrophy type 2O muscular dystrophy, limb-girdle, type 2O muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT1-related autosomal recessive limb-girdle muscular dystrophy type 2O MONDO:0013162 Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence or mild intellectual disability. LGMD-POMT2 related LGMD2N MDDGC2 POMT2 autosomal recessive limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT2 muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2 muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related limb-girdle muscular dystrophy type 2N muscular dystrophy, limb-girdle, type 2N muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 muscular dystrophy-dystroglycanopathy, limb-girdle, Pomt2-related autosomal recessive limb-girdle muscular dystrophy type 2N MONDO:0013163 Any nephronophthisis in which the cause of the disease is a mutation in the XPNPEP3 gene. NPHP-XPNPEP3 NPHPL1 XPNPEP3 nephronophthisis (disease) nephronophthisis (disease) caused by mutation in XPNPEP3 nephronophthisis-like nephropathy 1 nephronophthisis-like nephropathy type 1 nephronophthisis-like nephropathy 1 MONDO:0013164 Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal). Beta-alanine synthase deficiency beta-ureidopropionase deficiency BETA-ureidopropionase deficiency UPB1D beta-ureidopropionase deficiency MONDO:0013165 Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported. NT5C2 autosomal recessive complex spastic paraplegia SPG45 SPG65 autosomal recessive complex spastic paraplegia caused by mutation in NT5C2 autosomal recessive spastic paraplegia 45 autosomal recessive spastic paraplegia type 45 autosomal recessive spastic paraplegia type 65 hereditary spastic paraplegia type 45 spastic paraplegia 45, autosomal recessive hereditary spastic paraplegia 45 MONDO:0013166 Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration. https://github.com/monarch-initiative/mondo/issues/5915 GABA aminotransferase deficiency GABA transaminase deficiency gamma-amino butyric acid transaminase deficiency gamma-aminobutyric acid transaminase deficiency 4 alpha aminobutyrate transaminase deficiency ABAT GABA-transaminase deficiency GABAT gamma aminobutyrate transaminase deficiency gamma aminobutyric acid transaminase deficiency GABA aminotransaminase deficiency MONDO:0013167 PARK16 Parkinson disease 16 parkinson disease 16 MONDO:0013168 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RBM20 gene. CMD1DD RBM20 familial isolated dilated cardiomyopathy cardiomyopathy, dilated, type 1Dd dilated cardiomyopathy type 1DD familial isolated dilated cardiomyopathy caused by mutation in RBM20 cardiomyopathy, dilated, 1DD dilated cardiomyopathy 1DD MONDO:0013169 5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes). https://github.com/monarch-initiative/mondo/issues/3492 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 5p13 microduplication syndrome chromosome 5p13 duplication syndrome chromosome 5p13 duplication syndrome, isolated cases dup(5)(p13) trisomy 5p13 chromosome 5p13 duplication syndrome MONDO:0013170 A autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13 ARCL1C Urban-Rifkin-Davis syndrome autosomal recessive cutis laxa type 1C autosomal recessive cutis laxa type IC cutis laxa with Severe pulmonary, gastrointestinal, and urinary abnormalities cutis laxa, autosomal recessive, type 1C cutis laxa, autosomal recessive, type IC cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies MONDO:0013171 Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations. https://github.com/monarch-initiative/mondo/issues/4521 PNP deficiency PNPase deficiency deficiency of inosine phosphorylase immunodeficiency due to purine nucleoside phosphorylase deficiency purine nucleoside phosphorylase deficiency purine-nucleoside phosphorylase deficiency nucleoside phosphorylase deficiency purine nucleoside phosphorylase deficiency https://rarediseases.info.nih.gov/diseases/4606/purine-nucleoside-phosphorylase-deficiency MONDO:0013172 A rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction. polymicrogyria with optic nerve hypoplasia CDCBM8 cortical dysplasia, Complex, with Other brain malformations 8 cortical dysplasia, complex, with other brain malformations 8 polymicrogyria with optic nerve hypoplasia MONDO:0013173 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TRAPPC9 gene. TRAPPC9 autosomal recessive non-syndromic intellectual disability autosomal recessive non-syndromic intellectual disability caused by mutation in TRAPPC9 intellectual disability, autosomal recessive 13 intellectual disability, autosomal recessive type 13 mental retardation, autosomal recessive type 13 MRT13 mental retardation, autosomal recessive 13 intellectual disability, autosomal recessive 13 MONDO:0013174 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF1 gene. CILD13 DNAAF1 primary ciliary dyskinesia ciliary dyskinesia, primary, type 13 primary ciliary dyskinesia 13 primary ciliary dyskinesia 13 with or without situs inversus primary ciliary dyskinesia caused by mutation in DNAAF1 primary ciliary dyskinesia type 13 ciliary dyskinesia, primary, 13 ciliary dyskinesia, primary, 13, with or without situs inversus primary ciliary dyskinesia 13 MONDO:0013175 Any retinitis pigmentosa in which the cause of the disease is a mutation in the BEST1 gene. https://github.com/monarch-initiative/mondo/issues/4521 BEST1 retinitis pigmentosa RP50 retinitis pigmentosa 50 retinitis pigmentosa caused by mutation in BEST1 retinitis pigmentosa type 50 retinitis pigmentosa-50 retinitis pigmentosa, concentric retinitis pigmentosa 50 MONDO:0013176 https://github.com/monarch-initiative/mondo/issues/4948 15q26.3 microdeletion syndrome WMS4 Weill-Marchesani syndrome 4 Weill-Marchesani-like syndrome ichthyosis-short stature-brachydactyly-microspherophakia syndrome Weill-Marchesani 4 syndrome, recessive MONDO:0013177 Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency. https://github.com/monarch-initiative/mondo/issues/4069 ITGA7 congenital muscular dystrophy congenital muscular dystrophy caused by mutation in ITGA7 congenital muscular dystrophy with ITGA7 deficiency congenital muscular dystrophy with integrin alpha-7 deficiency congenital myopathy due to integrin alpha-7 deficiency muscular dystrophy, congenital, due to ITGA7 deficiency muscular dystrophy, congenital, due to integrin ALPHA-7 deficiency myopathy, congenital, due to integrin Alpha-7 deficiency congenital muscular dystrophy due to integrin alpha-7 deficiency MONDO:0013178 Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 L-CMD LMNA congenital muscular dystrophy LMNA-related congenital muscular dystrophy congenital muscular dystrophy LMNA-related congenital muscular dystrophy caused by mutation in LMNA muscular dystrophy Congenital, LMNA-related muscular dystrophy, congenital MDCL muscular dystrophy, congenital, LMNA-related congenital muscular dystrophy due to LMNA mutation https://rarediseases.info.nih.gov/diseases/12585/congenital-muscular-dystrophy-due-to-lmna-mutation MONDO:0013179 A very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein. GJC2 autosomal recessive complex spastic paraplegia SPG44 autosomal recessive complex spastic paraplegia caused by mutation in GJC2 autosomal recessive spastic paraplegia 44 hereditary spastic paraplegia type 44 autosomal recessive spastic paraplegia type 44 spastic paraplegia 44, autosomal recessive hereditary spastic paraplegia 44 MONDO:0013180 asthma-related traits, susceptibility to, 8 ASRT8 Rhinoconjunctivitis, susceptibility to asthma-RELATED traits, susceptibility to, 8 asthma-related traits, susceptibility to, 8 MONDO:0013181 Any amelogenesis imperfecta in which the cause of the disease is a mutation in the WDR72 gene. https://github.com/monarch-initiative/mondo/issues/4521 AI2A3 WDR72 amelogenesis imperfecta amelogenesis imperfecta caused by mutation in WDR72 amelogenesis imperfecta hypomaturation type 2A3 amelogenesis imperfecta hypomaturation type IIA3 amelogenesis imperfecta type IIA3 amelogenesis imperfecta, type IIA3 amelogenesis imperfecta, hypomaturation type, IIA3 amelogenesis imperfecta hypomaturation type 2A3 MONDO:0013182 17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features. https://github.com/monarch-initiative/mondo/issues/3492 https://github.com/monarch-initiative/mondo/issues/5588 17p13.3 duplication syndrome 17p13.3 microduplication syndrome chromosome 17p13.3 centromeric duplication syndrome dup(17)(p13.3) trisomy 17p13.3 chromosome 17p13.3, centromeric, DUPLICATION syndrome chromosome 17p13.3 duplication syndrome MONDO:0013183 Any congenital stationary night blindness in which the cause of the disease is a mutation in the TRPM1 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5693 CSNB1C TRPM1 congenital stationary night blindness congenital stationary night blindness 1C congenital stationary night blindness 1C autosomal recessive congenital stationary night blindness caused by mutation in TRPM1 congenital stationary night blindness type 1C night blindness, congenital stationary (complete), 1C, autosomal recessive CSNB, complete, autosomal recessive night blindness, congenital stationary, type 1C congenital stationary night blindness 1C MONDO:0013184 Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure. https://github.com/monarch-initiative/mondo/issues/4069 DIAR5 EPCAM secretory diarrhea IED congenital diarrhea 5 with tufting enteropathy congenital familial intractable diarrhea with epithelial or epithelium abnormalities congenital tufting enteropathy intestinal epithelial dysplasia secretory diarrhea caused by mutation in EPCAM tufting enteropathy congenital enteropathy congenital familial intractable diarrhea with enterocytes assembly abnormalities diarrhea 5, with tufting enteropathy, congenital enteropathy, congenital tufting intestinal epithelial cell dysplasia congenital diarrhea 5 with tufting enteropathy MONDO:0013185 Any leprosy in which the cause of the disease is a mutation in the TLR1 gene. TLR1 leprosy leprosy caused by mutation in TLR1 leprosy, susceptibility to, 5 leprosy, susceptibility to, type 5 LPRS5 leprosy, protection against susceptibility to leprosy 5 leprosy, susceptibility to, 5 MONDO:0013186 Any Noonan syndrome in which the cause of the disease is a mutation in the NRAS gene. NRAS Noonan syndrome NS6 Noonan syndrome 6 Noonan syndrome caused by mutation in NRAS Noonan syndrome type 6 NRAS gene related Noonan syndrome Noonan syndrome 6 https://rarediseases.info.nih.gov/diseases/10701/noonan-syndrome-6 MONDO:0013187 https://github.com/monarch-initiative/mondo/issues/4521 factor XIII, A subunit, deficiency of factor XIIIA deficiency hereditary factor XIII A subunit deficiency hereditary factor XIII alpha subunit deficiency hereditary factor XIII type II deficiency factor XIII, A subunit, deficiency of MONDO:0013188 Any dysequilibrium syndrome in which the cause of the disease is a mutation in the CA8 gene. CA8 dysequilibrium syndrome cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 3 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 3 dysequilibrium syndrome caused by mutation in CA8 CAMRQ3 cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 3 cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 MONDO:0013189 A disorder characterized by repetitive pulling out of one's hair resulting in noticeable hair loss; the individual experiences a rising subjective sense of tension before pulling out the hair and a sense of gratification or relief when pulling out the hair. https://github.com/monarch-initiative/mondo/issues/4521 trichotillomania trichotillomania, multifactorial TTM trichotillomania MONDO:0013190 https://github.com/monarch-initiative/mondo/issues/4521 factor XIII, b subunit, deficiency of factor XIIIB deficiency factor XIII, b subunit, deficiency of MONDO:0013191 Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the INF2 gene. FSGS5 INF2 focal segmental glomerulosclerosis focal segmental glomerulosclerosis 5 focal segmental glomerulosclerosis caused by mutation in INF2 focal segmental glomerulosclerosis type 5 glomerulosclerosis, focal segmental, 5 focal segmental glomerulosclerosis 5 MONDO:0013192 spondyloarthropathy, susceptibility to, 3 SPDA3 spondyloarthropathy, susceptibility to, 3 MONDO:0013193 Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the KCNJ18 gene. https://github.com/monarch-initiative/mondo/issues/4882 KCNJ18 thyrotoxic periodic paralysis thyrotoxic periodic paralysis caused by mutation in KCNJ18 thyrotoxic periodic paralysis, susceptibility to, 2 thyrotoxic periodic paralysis, susceptibility to, type 2 TTPP2 thyrotoxic periodic paralysis, susceptibility to, 2 MONDO:0013194 Pseudopili annulati Pseudopili annulati MONDO:0013195 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene. https://github.com/monarch-initiative/mondo/issues/4521 CMH13 TNNC1 hypertrophic cardiomyopathy cardiomyopathy familial hypertrophic 13 cardiomyopathy, familial hypertrophic, type 13 cardiomyopathy, hypertrophic, 13 hypertrophic cardiomyopathy caused by mutation in TNNC1 hypertrophic cardiomyopathy type 13 cardiomyopathy, familial hypertrophic, 13 hypertrophic cardiomyopathy 13 MONDO:0013196 Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the EPCAM gene. https://github.com/monarch-initiative/mondo/issues/5666 EPCAM hereditary nonpolyposis colon cancer colorectal cancer, hereditary nonpolyposis, type 8 hereditary nonpolyposis colon cancer caused by mutation in EPCAM HNPCC8 Lynch syndrome 8 MONDO:0013197 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene. https://github.com/monarch-initiative/mondo/issues/4521 CMH14 MYH6 hypertrophic cardiomyopathy cardiomyopathy familial hypertrophic 14 cardiomyopathy, familial hypertrophic, type 14 cardiomyopathy, hypertrophic, 14 hypertrophic cardiomyopathy caused by mutation in MYH6 hypertrophic cardiomyopathy type 14 cardiomyopathy, familial hypertrophic, 14 hypertrophic cardiomyopathy 14 MONDO:0013198 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene. CMD1EE MYH6 familial isolated dilated cardiomyopathy cardiomyopathy, dilated, type 1Ee dilated cardiomyopathy type 1EE familial isolated dilated cardiomyopathy caused by mutation in MYH6 cardiomyopathy, dilated, 1EE dilated cardiomyopathy 1EE MONDO:0013199 Tuberous sclerosis mapped to chromosome 16p13.3 (TSC2 gene). https://github.com/monarch-initiative/mondo/issues/4521 tuberous sclerosis 2 tuberous sclerosis type 2 tuberous sclerosis-2 TSC2 TSC2 Angiomyolipomas, renal, modifier of tuberous sclerosis, type 2 tuberous sclerosis 2 MONDO:0013200 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the VCL gene. https://github.com/monarch-initiative/mondo/issues/4521 CMH15 VCL hypertrophic cardiomyopathy cardiomyopathy familial hypertrophic 15 cardiomyopathy, familial hypertrophic, type 15 cardiomyopathy, hypertrophic, 15 hypertrophic cardiomyopathy caused by mutation in VCL hypertrophic cardiomyopathy type 15 cardiomyopathy, familial hypertrophic, 15 hypertrophic cardiomyopathy 15 MONDO:0013201 A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDN3. EDN3 Waardenburg syndrome WS4B Waardenburg syndrome caused by mutation in EDN3 Waardenburg syndrome type 4B Waardenburg syndrome type IVB Waardenburg syndrome with Hirschsprung disease type 4B Waardenburg syndrome, type 4B Waardenburg syndrome, type 4B, with Hirschsprung disease Waardenburg syndrome type 4B MONDO:0013202 A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in SOX10. WS4C Waardenburg syndrome type 4C Waardenburg syndrome type IVC Waardenburg syndrome with Hirschsprung disease type 4C Waardenburg syndrome with Hirschsprung disease, type 4C Waardenburg syndrome, type 4C Waardenburg syndrome type 4C MONDO:0013203 Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the TCF4 gene. Fuchs' endothelial dystrophy caused by mutation in TCF4 TCF4 Fuchs' endothelial dystrophy corneal dystrophy, Fuchs endothelial, 3 corneal dystrophy, Fuchs endothelial, type 3 FECD3 Fcd2 locus corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, 3 MONDO:0013204 Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the SLC4A11 gene. Fuchs' endothelial dystrophy caused by mutation in SLC4A11 SLC4A11 Fuchs' endothelial dystrophy corneal dystrophy, Fuchs endothelial, 4 corneal dystrophy, Fuchs endothelial, type 4 FECD4 corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, 4 MONDO:0013205 FECD5 Fcd3 locus corneal dystrophy, Fuchs endothelial, 5 corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, 5 MONDO:0013206 Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the ZEB1 gene. Fuchs' endothelial dystrophy caused by mutation in ZEB1 ZEB1 Fuchs' endothelial dystrophy corneal dystrophy, Fuchs endothelial, 6 corneal dystrophy, Fuchs endothelial, type 6 FECD6 corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, Fuchs endothelial, 6 MONDO:0013207 FECD7 Fcd4 locus corneal dystrophy, Fuchs endothelial, 7 corneal dystrophy, Fuchs endothelial, late-onset corneal dystrophy, fuchs endothelial, 7 MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome HMDPC HMNDYT1 hypermanganesemia with dystonia 1 hypermanganesemia with dystonia polycythemia and cirrhosis hypermanganesemia with dystonia, polycythemia, and cirrhosis cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome MONDO:0013209 A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use. NAFLD fatty liver disease, nonalcoholic non-alcoholic fatty liver non-alcoholic fatty liver disease NAFLD - nonalcoholic fatty liver disease NAFLD1 fatty liver disease, nonalcoholic, susceptibility to, 1 liver disease, alcoholic, susceptibility to, 1 nonalcoholic fatty liver disease non-alcoholic fatty liver disease MONDO:0013210 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR1 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB25 GRXCR1 autosomal recessive nonsyndromic deafness autosomal recessive deafness 25 autosomal recessive nonsyndromic deafness 25 autosomal recessive nonsyndromic deafness caused by mutation in GRXCR1 autosomal recessive nonsyndromic deafness type 25 deafness, autosomal recessive 25 deafness, autosomal recessive type 25 autosomal recessive nonsyndromic hearing loss 25 MONDO:0013211 A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.42. CMD1FF cardiomyopathy, dilated, type 1Ff dilated cardiomyopathy type 1FF cardiomyopathy, dilated, 1FF dilated cardiomyopathy 1FF MONDO:0013212 Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow. AARS Charcot-Marie-Tooth disease type 2 CMT2N Charcot-Marie-Tooth disease type 2 caused by mutation in AARS Charcot-Marie-Tooth neuropathy axonal type 2N autosomal dominant Charcot-Marie-Tooth disease type 2N autosomal dominant axonal Charcot-Marie-Tooth disease type 2N Charcot-Marie-Tooth disease type 2N Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2N Charcot-Marie-Tooth disease, axonal, type 2N Charcot-Marie-Tooth neuropathy, axonal, type 2N Charcot-Marie-Tooth disease axonal type 2N MONDO:0013213 https://github.com/monarch-initiative/mondo/issues/4882 CIHL hearing loss, cisplatin-induced, susceptibility to hearing loss, cisplatin-induced, susceptibility to MONDO:0013214 https://github.com/monarch-initiative/mondo/issues/4521 Bile acid malabsorption, primary, 1 bile acid malabsorption, primary PBAM bile acid malabsorption, primary MONDO:0013215 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TPRN gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB79 TPRN autosomal recessive nonsyndromic deafness autosomal recessive deafness 79 autosomal recessive nonsyndromic deafness 79 autosomal recessive nonsyndromic deafness caused by mutation in TPRN autosomal recessive nonsyndromic deafness type 79 deafness, autosomal recessive 79 deafness, autosomal recessive type 79 autosomal recessive nonsyndromic hearing loss 79 MONDO:0013216 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS10 gene. Diamond-Blackfan Anemia type 9 Diamond-Blackfan anemia 9 Diamond-Blackfan anemia caused by mutation in RPS10 RPS10 Diamond-Blackfan anemia DBA9 Diamond-Blackfan anemia 9 MONDO:0013217 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS26 gene. Diamond-Blackfan Anemia type 10 Diamond-Blackfan anemia 10 Diamond-Blackfan anemia caused by mutation in RPS26 RPS26 Diamond-Blackfan anemia DBA10 Diamond-Blackfan anemia 10 MONDO:0013218 Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the TSPAN12 gene. TSPAN12 exudative vitreoretinopathy exudative vitreoretinopathy 5 exudative vitreoretinopathy caused by mutation in TSPAN12 exudative vitreoretinopathy type 5 EVR5 exudative vitreoretinopathy 5 MONDO:0013219 Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the ENPP1 gene. https://github.com/monarch-initiative/mondo/issues/4948 ENPP1 autosomal recessive hypophosphatemic rickets autosomal recessive hypophosphatemic rickets caused by mutation in ENPP1 hypophosphatemic rickets, autosomal recessive, 2 hypophosphatemic rickets, autosomal recessive, type 2 ARHR2 hypophosphatemic rickets, autosomal recessive, 2 MONDO:0013220 Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HAMP gene. HAMP hemochromatosis type 2 HFE2B hemochromatosis type 2 caused by mutation in HAMP hemochromatosis, type 2B hemochromatosis type 2B MONDO:0013221 MMD2 Miyoshi muscular dystrophy 2 MIYOSHI muscular dystrophy 2 Miyoshi myopathy 2 Miyoshi muscular dystrophy 2 MONDO:0013222 MMD3 Miyoshi muscular dystrophy 3 Miyoshi muscular dystrophy type 3 distal anoctaminopathy Miyoshi myopathy 3 Miyoshi muscular dystrophy 3 MONDO:0013223 Any spondylodysplastic dysplasia in which the cause of the disease is a mutation in the PAM16 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 PAM16 spondylodysplastic dysplasia spondylodysplastic dysplasia caused by mutation in PAM16 spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type SMDMDM autosomal recessive spondylometaphyseal dysplasia, Mégarbané type chondrodysplasia, Megarbane-Dagher-Melki type spondylometaphyseal dysplasia, MEGARBANE-DAGHER-MELKI type autosomal recessive spondylometaphyseal dysplasia, Megarbane type MONDO:0013224 Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCA4 gene. SMARCA4 familial rhabdoid tumor familial rhabdoid tumor caused by mutation in SMARCA4 rhabdoid tumor predisposition syndrome 2 rhabdoid tumor predisposition syndrome type 2 RTPS2 rhabdoid tumor predisposition syndrome 2 MONDO:0013225 Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAVIN1 gene. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/5723 BSCL4 Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy CAVIN1 congenital generalized lipodystrophy (disease) CGL4 GCL4 congenital generalized lipodystrophy (disease) caused by mutation in CAVIN1 generalized congenital lipodystrophy type 4 generalized congenital lipodystrophy with myopathy Berardinelli-Seip congenital lipodystrophy, type 4, with muscular dystrophy lipodystrophy, Berardinelli-Seip congenital, type 4, with muscular dystrophy lipodystrophy, congenital generalized, type 4 congenital generalized lipodystrophy type 4 MONDO:0013226 Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia). https://github.com/monarch-initiative/mondo/issues/4521 Roifman-Chitayat syndrome Roifman-Chitayat syndrome, digenic ROIFMAN-Chitayat syndrome combined immunodeficiency, Facial Dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay combined immunodeficiency with faciooculoskeletal anomalies MONDO:0013227 Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency. https://github.com/monarch-initiative/mondo/issues/4069 congenital PAI-1 deficiency congenital plasminogen activator inhibitor type 1 deficiency hyperfibrinolysis due to Pai1 deficiency plasminogen activator INHIBITOR-1 deficiency plasminogen activator inhibitor type 1 deficiency congenital plasminogen activator inhibitor type 1 deficiency MONDO:0013228 https://github.com/monarch-initiative/mondo/issues/4948 spondylo-megaepiphyseal-metaphyseal dysplasia SMMD spondylo-megaepiphyseal-metaphyseal dysplasia MONDO:0013229 Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases. epilepsy, hot water hot water epilepsy bathing epilepsy water immersion epilepsy Editor note: TODO add ECTO hot water reflex epilepsy MONDO:0013230 epilepsy, hot water, 2 HWE2 epilepsy, hot water, 2 MONDO:0013231 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LRAT gene. https://github.com/monarch-initiative/mondo/issues/4521 LCA14 LRAT Leber congenital amaurosis Leber congenital amaurosis 14 Leber congenital amaurosis caused by mutation in LRAT Leber congenital amaurosis type 14 retinal dystrophy, early-onset severe retinal dystrophy, early-onset Severe, LRAT-related retinitis pigmentosa, juvenile retinitis pigmentosa, juvenile, LRAT-related Leber congenital amaurosis 14 https://rarediseases.info.nih.gov/diseases/10883/leber-congenital-amaurosis-14 MONDO:0013232 Mseleni joint disease (MJD) is a rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short staure and brachydactyly have been reported in a few patients with MJD. Mseleni joint disease Mseleni JOINT disease brachydactylous dwarfism Mseleni type brachydactylous dwarfs of Mseleni brachydactylous dwarfism, Mseleni type MONDO:0013233 A rare, genetic, primary bone dysplasia characterized by three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities, 2) short-statured patients with predominantly truncal shortening, arm span exceeding height, dyspalstic changes of hips and varying degrees of platyspondyly, and 3) patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces and sclerotic and cystic changes on imaging. https://github.com/monarch-initiative/mondo/issues/5280 spondyloepimetaphyseal dysplasia, Handigodu type Handigodu JOINT disease Hjd spondyloepimetaphyseal dysplasia, Handigodu type MONDO:0013234 hypokalemic periodic paralysis, type 2 HOKPP2 hypokalemic periodic paralysis, type 2 MONDO:0013235 Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA2 gene. https://github.com/monarch-initiative/mondo/issues/4521 BRCA2 familial pancreatic carcinoma familial pancreatic carcinoma caused by mutation in BRCA2 pancreatic cancer 2 pancreatic cancer, susceptibility to, 2 pancreatic cancer, susceptibility to, type 2 Pnca2 susceptibility to pancreatic cancer 2 pancreatic cancer, susceptibility to, 2 MONDO:0013236 Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALB2 gene. PALB2 familial pancreatic carcinoma familial pancreatic carcinoma caused by mutation in PALB2 pancreatic cancer, susceptibility to, 3 pancreatic cancer, susceptibility to, type 3 Pnca3 susceptibility to pancreatic cancer 3 pancreatic cancer, susceptibility to, 3 MONDO:0013237 mononeuropathy of the median nerve, mild MNMN carpal tunnel syndrome, susceptibility to susceptibility to mononeuropathy of the median nerve, mild MONDO:0013238 17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities. https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/4521 17q23.1-q23.2 microdeletion syndrome 17q23.1q23.2 microdeletion syndrome Del(17)(q23.1q23.2) chromosome 17q23.1-q23.2 deletion syndrome chromosome 17q23.1-q23.2 deletion syndrome, isolated cases monosomy 17q23.1-q23.2 monosomy 17q23.1q23.2 chromosome 17q23.1-q23.2 deletion syndrome MONDO:0013239 Autosomal dominant spastic paraplegia type 41 is a pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise. SPG41 autosomal dominant spastic paraplegia 41 autosomal dominant spastic paraplegia type 41 hereditary spastic paraplegia type 41 spastic paraplegia 41, autosomal dominant hereditary spastic paraplegia 41 MONDO:0013240 Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the INS gene. INS maturity-onset diabetes of the young (disease) MODY10 maturity-onset diabetes of the young (disease) caused by mutation in INS maturity-onset diabetes of the young, type 10 maturity-onset diabetes of the young type 10 MONDO:0013241 Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by a slowly progressive and relatively pure ataxia. SCA30 spinocerebellar ataxia type 30 spinocerebellar ataxia 30 spinocerebellar ataxia type 30 MONDO:0013242 Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the BLK gene. BLK maturity-onset diabetes of the young (disease) MODY11 maturity-onset diabetes of the young (disease) caused by mutation in BLK maturity-onset diabetes of the young, type 11 maturity-onset diabetes of the young type 11 MONDO:0013243 Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB3 gene. HSPB3 neuronopathy, distal hereditary motor neuronopathy, distal hereditary motor caused by mutation in HSPB3 HMN 2C HMN2C neuronopathy, distal hereditary motor, type IIC neuropathy, distal hereditary motor, type 2C neuronopathy, distal hereditary motor, type 2C MONDO:0013244 Any brachydactyly type E in which the cause of the disease is a mutation in the PTHLH gene. https://github.com/monarch-initiative/mondo/issues/4948 BDE2 PTHLH brachydactyly type E brachydactyly type E caused by mutation in PTHLH brachydactyly type E2 brachydactyly, type E2 brachydactyly type E2 MONDO:0013245 https://github.com/monarch-initiative/mondo/issues/5588 syndromic multisystem autoimmune disease due to ITCH deficiency ADMFD ITCH E3 ubiquitin ligase deficiency autoimmune disease, multisystem, with facial dysmorphism autoimmune disease, syndromic multisystem syndromic multisystem autoimmune disease syndromic multisystem autoimmune disease due to ITCH deficiency https://rarediseases.info.nih.gov/diseases/10775/itch-e3-ubiquitin-ligase-deficiency MONDO:0013246 https://github.com/monarch-initiative/mondo/issues/4882 NAFLD2 fatty liver disease, nonalcoholic, susceptibility to, 2 fatty liver disease, nonalcoholic, susceptibility to, 2 MONDO:0013247 Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene. Fanconi renotubular syndrome 2 Fanconi renotubular syndrome type 2 Fanconi syndrome caused by mutation in SLC34A1 SLC34A1 Fanconi syndrome FRTS2 Fanconi renotubular syndrome 2 MONDO:0013248 Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene. FANCO Fanconi Anemia, complementation group type O Fanconi anemia caused by mutation in RAD51C Fanconi anemia caused by mutation in Rad51C Fanconi anemia complementation group type O RAD51C Fanconi anemia Rad51C Fanconi anemia Fanconi anemia, complementation group O Fanconi anemia complementation group O MONDO:0013249 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PTPRQ gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB84A PTPRQ autosomal recessive nonsyndromic deafness autosomal recessive deafness 84A autosomal recessive deafness 84A with vestibular dysfunction autosomal recessive nonsyndromic deafness 84A autosomal recessive nonsyndromic deafness caused by mutation in PTPRQ autosomal recessive nonsyndromic deafness type 84A deafness, autosomal recessive 84 deafness, autosomal recessive 84A deafness, autosomal recessive 84A, with vestibular dysfunction deafness, autosomal recessive 84a deafness, autosomal recessive type 84A autosomal recessive nonsyndromic hearing loss 84A MONDO:0013250 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 17p12-q11.2. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB85 autosomal recessive deafness 85 autosomal recessive nonsyndromic deafness 85 autosomal recessive nonsyndromic deafness type 85 deafness, autosomal recessive 85 autosomal recessive nonsyndromic hearing loss 85 MONDO:0013251 https://github.com/monarch-initiative/mondo/issues/4521 Birbeck granule deficiency Birbeck granules, absence of Birbeck granule deficiency MONDO:0013252 A syndrome mainly characterized by severe growth retardation and microcephaly. It is a new form of cohesinopathy showing defects in sister chromatid cohesion and hypersensitivity to chemicals that induce replication stress, thus combining distinct cytogenetic features seen in Roberts syndrome and Fanconi anemia, respectively. It has material basis in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11. WABS Warsaw breakage syndrome WARSAW breakage syndrome Warsaw breakage syndrome MONDO:0013253 Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51C gene. RAD51C hereditary breast ovarian cancer syndrome Rad51C hereditary breast ovarian cancer syndrome breast-ovarian cancer, familial, susceptibility to, 3 breast-ovarian cancer, familial, susceptibility to, type 3 hereditary breast ovarian cancer syndrome caused by mutation in RAD51C hereditary breast ovarian cancer syndrome caused by mutation in Rad51C BROVCA3 breast cancer, familial, susceptibility to, 3 ovarian cancer, familial, susceptibility to, 3 susceptibility to familial breast-ovarian cancer 3 breast-ovarian cancer, familial, susceptibility to, 3 MONDO:0013254 microcephaly, seizures, and developmental delay EIEE10 MCSZ early infantile epileptic encephalopathy-10 epileptic encephalopathy, early infantile, 10 microcephaly - seizures - developmental delay microcephaly, seizures, and developmental delay https://rarediseases.info.nih.gov/diseases/10933/microcephaly-seizures-and-developmental-delay MONDO:0013255 Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VIPAS39 gene. VIPAS39 arthrogryposis-renal dysfunction-cholestasis syndrome arthrogryposis, renal dysfunction, and cholestasis 2 arthrogryposis, renal dysfunction, and cholestasis type 2 arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VIPAS39 ARCS2 arthrogryposis, renal dysfunction, and cholestasis 2 MONDO:0013256 15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies. https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/5588 15q24 microdeletion syndrome 15q24 recurrent microdeletion syndrome Del(15)(q24) chromosome 15q24 deletion syndrome monosomy 15q24 WITKOS Witteveen-Kolk syndrome chromosome 15Q24 Duplication syndrome chromosome 15q24 deletion syndrome MONDO:0013257 https://github.com/monarch-initiative/mondo/issues/4882 LPRS6 leprosy, susceptibility to, 6 leprosy, susceptibility to, 6 MONDO:0013258 https://github.com/monarch-initiative/mondo/issues/4521 autism susceptibility 16 autism, susceptibility to, 16 autism, susceptibility to, type 16 AUTS16 autism with or without seizures susceptibility to autism 16 autism, susceptibility to, 16 MONDO:0013259 Any Oguchi disease in which the cause of the disease is a mutation in the GRK1 gene. CSNBO2 GRK1 Oguchi disease Oguchi disease caused by mutation in GRK1 Oguchi disease type 2 congenital stationary night blindness Oguchi type 2 Oguchi disease 2 night blindness, congenital stationary, Oguchi type 2 Oguchi disease-2 MONDO:0013260 EOE2 esophagitis, eosinophilic, 2 esophagitis, eosinophilic, 2 MONDO:0013261 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene. ACTC1 familial isolated dilated cardiomyopathy CMD1R cardiomyopathy, dilated, type 1R dilated cardiomyopathy type 1R familial isolated dilated cardiomyopathy caused by mutation in ACTC1 cardiomyopathy, dilated, 1R left ventricular noncompaction 4 dilated cardiomyopathy 1R MONDO:0013262 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene. CMD1S MYH7 familial isolated dilated cardiomyopathy cardiomyopathy, dilated, type 1S dilated cardiomyopathy type 1S familial isolated dilated cardiomyopathy caused by mutation in MYH7 cardiomyopathy, dilated, 1S dilated cardiomyopathy-1S left ventricular noncompaction 5 dilated cardiomyopathy 1S https://rarediseases.info.nih.gov/diseases/12832/dilated-cardiomyopathy-1s MONDO:0013263 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PCARE gene. https://github.com/monarch-initiative/mondo/issues/5693 PCARE retinitis pigmentosa RP54 retinitis pigmentosa 54 retinitis pigmentosa caused by mutation in PCARE retinitis pigmentosa type 54 retinitis pigmentosa 54 MONDO:0013264 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the OPTN gene. https://github.com/monarch-initiative/mondo/issues/4521 ALS12 OPTN amyotrophic lateral sclerosis amyotrophic lateral sclerosis 12 amyotrophic lateral sclerosis 12 with or without frontotemporal dementia amyotrophic lateral sclerosis caused by mutation in OPTN amyotrophic lateral sclerosis type 12 amyotrophic lateral sclerosis type 12 MONDO:0013265 https://github.com/monarch-initiative/mondo/issues/4521 autism susceptibility 17 autism, susceptibility to, 17 autism, susceptibility to, type 17 AUTS17 susceptibility to autism 17 autism, susceptibility to, 17 MONDO:0013266 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MEF2C gene. https://github.com/monarch-initiative/mondo/issues/4521 MEF2C autosomal dominant non-syndromic intellectual disability MRD20 autosomal dominant non-syndromic intellectual disability caused by mutation in MEF2C chromosome 5q14.3 deletion syndrome intellectual disability, autosomal dominant 20 intellectual disability, autosomal dominant type 20 mental retardation, autosomal dominant 20 mental retardation, autosomal dominant type 20 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language autosomal dominant intellectual disability 20 autosomal dominant mental retardation 20 chromosome 5Q14.3 deletion syndrome, proximal intellectual disability, stereotypic movements, epilepsy, and/or cerebral malformations mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations intellectual disability, autosomal dominant 20 MONDO:0013267 Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated. https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/4521 body mass index QTL16 chromosome 16p11.2 deletion syndrome, type 220kb distal 16p11.2 microdeletion syndrome distal del(16)(p11.2) distal monosomy 16p11.2 body Mass index quantitative trait locus 16 chromosome 16p11.2 deletion syndrome, 220-KB chromosome 16p11.2 deletion syndrome, 220kb obesity, susceptibility to distal 16p11.2 microdeletion syndrome MONDO:0013268 Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism. https://github.com/monarch-initiative/mondo/issues/4948 ALX4-related FNDAG craniofrontonasal dysplasia with alopecia and hypogonadism frontonasal dysplasia type 2 frontonasal dysplasia with alopecia and genital abnomality FND2 frontonasal dysplasia 2 frontonasal dysplasia with alopecia and genital anomaly https://rarediseases.info.nih.gov/diseases/12641/frontonasal-dysplasia-with-alopecia-and-genital-anomaly MONDO:0013269 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SERPINB6 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB91 SERPINB6 autosomal recessive nonsyndromic deafness autosomal recessive deafness 91 autosomal recessive nonsyndromic deafness 91 autosomal recessive nonsyndromic deafness caused by mutation in SERPINB6 autosomal recessive nonsyndromic deafness type 91 deafness, autosomal recessive 91 deafness, autosomal recessive type 91 autosomal recessive nonsyndromic hearing loss 91 MONDO:0013270 https://github.com/monarch-initiative/mondo/issues/4069 Rett syndrome, congenital variant Rett syndrome, congenital variant MONDO:0013271 https://github.com/monarch-initiative/mondo/issues/4948 ALX1-related frontonasal dysplasia frontonasal dysplasia type 3 FND3 frontonasal dysplasia 3 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome https://rarediseases.info.nih.gov/diseases/12640/frontonasal-dysplasia-severe-microphthalmia-severe-facial-clefting-syndrome MONDO:0013272 14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism. https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/4521 14q11.2 microdeletion syndrome Del(14)(q11.2) chromosome 14q11-q22 deletion syndrome chromosome 14q11-q22 deletion syndrome, isolated cases monosomy 14q11.2 chromosome 14q11-q22 deletion syndrome MONDO:0013273 16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioural problems. https://github.com/monarch-initiative/mondo/issues/3492 https://github.com/monarch-initiative/mondo/issues/4521 16p13.3 microduplication syndrome chromosome 16p13.3 duplication syndrome chromosome 16p13.3 duplication syndrome, isolated cases distal duplication 16p distal trisomy 16p dup(16)(p13.3) telomeric duplication 16p trisomy 16pter 16p13.3 duplication chromosome 16p13.3 duplication interstitial 16p13.3 duplication chromosome 16p13.3 duplication syndrome https://rarediseases.info.nih.gov/diseases/10755/chromosome-16p133-duplication MONDO:0013274 Any retinitis pigmentosa in which the cause of the disease is a mutation in the TTC8 gene. RP51 TTC8 retinitis pigmentosa retinitis pigmentosa 51 retinitis pigmentosa caused by mutation in TTC8 retinitis pigmentosa type 51 retinitis pigmentosa 51 MONDO:0013275 Glucosephosphate isomerase (GPI) deficiency is an erythroenzymopathy characterized by chronic nonspherocytic hemolytic anemia. https://github.com/monarch-initiative/mondo/issues/4985 glucosephosphate isomerase deficiency hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency hemolytic anemia due to glucophosphate isomerase deficiency MONDO:0013276 Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc). Reynolds syndrome primary biliary cirrhosis and systemic scleroderma primary biliary cirrhosis, Scleroderma, Raynaud disease, and telangiectasia Reynolds syndrome https://rarediseases.info.nih.gov/diseases/4697/reynolds-syndrome MONDO:0013277 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SPTAN1 gene. https://github.com/monarch-initiative/mondo/issues/4521 DEE5 EIEE5 SPTAN1 early infantile epileptic encephalopathy developmental and epileptic encephalopathy 5 early infantile epileptic encephalopathy caused by mutation in SPTAN1 epileptic encephalopathy, early infantile, 5 epileptic encephalopathy, early infantile, type 5 developmental and epileptic encephalopathy, 5 MONDO:0013278 Any hereditary lymphedema in which the cause of the disease is a mutation in the GJC2 gene. GJC2 hereditary lymphedema hereditary lymphedema caused by mutation in GJC2 lymphedema, hereditary, 1C lymphedema, hereditary, type 1C LMPH1C lymphedema, hereditary, IC lymphatic malformation 3 MONDO:0013279 Any long QT syndrome in which the cause of the disease is a mutation in the KCNJ5 gene. KCNJ5 long QT syndrome LQT13 long QT syndrome 13 long QT syndrome caused by mutation in KCNJ5 long QT syndrome type 13 long QT syndrome 13 MONDO:0013280 A liposarcoma characterized by the presence of round non-lipogenic primitive mesenchymal cells and small signet ring lipoblasts within a myxoid stoma with a branching vascular pattern. This category includes hypercellular lesions with round cell morphology, formerly known as round cell liposarcoma. myxoid/round cell liposarcoma myxoid liposarcoma myxoid liposarcoma (morphologic abnormality) Myxoliposarcoma mixed-type liposarcoma myxoid liposarcoma MONDO:0013281 COG4-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia. CDG syndrome type IIj CDG-IIj CDG2J COG4-CDG COG4-congenital disorder of glycosylation carbohydrate deficient glycoprotein syndrome type IIj congenital disorder of glycosylation type 2j congenital disorder of glycosylation type IIj CDG IIj COG4-CDG (CDG-IIj) congenital disorder of glycosylation, type IIj COG4-congenital disorder of glycosylation MONDO:0013282 Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis. https://github.com/monarch-initiative/mondo/issues/4521 A-1ATD A1AD AAT deficiency alpha 1-antitrypsin deficiency deficiency in Alpa-1-proteinase inhibitor emphysema due to AAT deficiency emphysema-cirrhosis, due to AAT deficiency hemorrhagic diathesis due to antithrombin pittsburgh A1AT deficiency A1ATD AATD ALPHA-1-antitrypsin deficiency Alpha 1 antitrypsin deficiency Alpha-1 antitrypsin deficiency alpha-1-antitrypsin deficiency alpha 1-antitrypsin deficiency https://rarediseases.info.nih.gov/diseases/5784/alpha-1-antitrypsin-deficiency MONDO:0013283 immunodeficiency, common variable, 3 immunodeficiency, common variable, type 3 CVID3 antibody deficiency due to CD19 defect immunodeficiency, common variable, 3 MONDO:0013284 immunodeficiency, common variable, 4 immunodeficiency, common variable, type 4 CVID4 antibody deficiency due to Baffr defect immunodeficiency, common variable, 4 MONDO:0013285 Any common variable immunodeficiency in which the cause of the disease is a mutation in the MS4A1 gene. MS4A1 common variable immunodeficiency common variable immunodeficiency caused by mutation in MS4A1 immunodeficiency, common variable, 5 immunodeficiency, common variable, type 5 CVID5 antibody deficiency due to CD20 defect immunodeficiency, common variable, 5 MONDO:0013286 Any common variable immunodeficiency in which the cause of the disease is a mutation in the CD81 gene. CD81 common variable immunodeficiency common variable immunodeficiency caused by mutation in CD81 immunodeficiency, common variable, 6 immunodeficiency, common variable, type 6 CVID6 antibody deficiency due to CD81 defect immunodeficiency, common variable, 6 MONDO:0013287 Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the IGLL1 gene. AGM2 IGLL1 autosomal agammaglobulinemia agammaglobulinemia 2, autosomal recessive agammaglobulinemia, autosomal recessive, due to IGLL1 defect autosomal agammaglobulinemia caused by mutation in IGLL1 lambda 5 deficiency agammaglobulinemia 2, autosomal recessive MONDO:0013288 Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79A gene. CD79A autosomal agammaglobulinemia agammaglobulinemia 3, autosomal recessive autosomal agammaglobulinemia caused by mutation in CD79A AGM3 agammaglobulinemia, autosomal recessive, due to Cd79A defect agammaglobulinemia 3, autosomal recessive MONDO:0013289 Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the BLNK gene. https://github.com/monarch-initiative/mondo/issues/4521 BLNK autosomal agammaglobulinemia agammaglobulinemia 4 agammaglobulinemia 4, autosomal recessive autosomal agammaglobulinemia caused by mutation in BLNK AGM4 agammaglobulinemia, autosomal recessive, due to Blnk defect agammaglobulinemia 4, autosomal recessive MONDO:0013290 Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the LRRC8A gene. https://github.com/monarch-initiative/mondo/issues/4521 LRRC8A autosomal agammaglobulinemia agammaglobulinemia 5 agammaglobulinemia 5, autosomal dominant autosomal agammaglobulinemia caused by mutation in LRRC8A AGM5 agammaglobulinemia, autosomal dominant, due to Lrrc8A defect agammaglobulinemia 5, autosomal dominant MONDO:0013291 Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle. https://github.com/monarch-initiative/mondo/issues/4985 GSD type 15 GSD type XV GSD with severe cardiomyopathy due to glycogenin deficiency glycogen storage disease XV glycogen storage disease type 15 glycogen storage disease type XV glycogenosis type 15 glycogenosis type XV glycogenosis with severe cardiomyopathy due to glycogenin deficiency GSD 15 GSD15 Gyg1 deficiency glycogen storage disease 15 glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency glycogenin deficiency glycogen storage disease XV MONDO:0013292 The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech. https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/4521 4q21 microdeletion syndrome Del(4)(q21) chromosome 4q21 deletion syndrome chromosome 4q21 deletion syndrome, isolated cases monosomy 4q21 chromosome 4q21 deletion syndrome MONDO:0013293 Any isolated microphthalmia in which the cause of the disease is a mutation in the PRSS56 gene. MCOP6 PRSS56 isolated microphthalmia isolated microphthalmia caused by mutation in PRSS56 isolated microphthalmia type 6 microphthalmia, isolated type 6 posterior nonsyndromic microphthalmia microphthalmia, isolated 6 microphthalmia, posterior nonsyndromic isolated microphthalmia 6 MONDO:0013294 An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 4q22.1. https://github.com/monarch-initiative/mondo/issues/4521 ATOD8 atopic dermatitis type 8 dermatitis, atopic, 8 dermatitis, atopic, susceptibility to, 8 dermatitis, atopic, severity of dermatitis, atopic, 8 MONDO:0013295 An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 3p24. https://github.com/monarch-initiative/mondo/issues/4521 ATOD9 atopic dermatitis 9 atopic dermatitis type 9 dermatitis, atopic, susceptibility to, 9 dermatitis, ATOPIC, 9 dermatitis, atopic, 9 MONDO:0013296 Hematologic neoplasms characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint. Patients present with a myeloproliferative neoplasm, acute myeloid leukemia, lymphoblastic lymphoma/leukemia of T or B-cell lineage, or acute leukemia of mixed phenotype. 8p11 myeloproliferative syndrome 8p11 stem cell leukemia/lymphoma syndrome 8p11 stem cell lymphoma/leukemia syndrome 8p11 stem cell syndrome myeloid and lymphoid neoplasms with FGFR1 rearrangement myeloid/lymphoid neoplasms with FGFR1 rearrangement stem cell leukemia/lymphoma chromosome 8p11 myeloproliferative syndrome myeloid/lymphoid neoplasm associated with FGFR1 rearrangement myeloid neoplasm associated with FGFR1 rearrangement MONDO:0013297 Autosomal dominant limb-girdle muscular dystrophy type 1H (LGMD1H) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by slowly progressive proximal muscular weakness initially affecting the lower limbs (and later involving the upper limbs), hypotrophy of upper and lower limb-girdle muscles, hyporeflexia, calf hypertrophy, and increased serum creatine kinase. There is no involvement of oculo-facial-bulbar muscles and cardiac muscle. LGMD1H muscular dystrophy limb-girdle type 1H limb-girdle muscular dystrophy type 1H muscular dystrophy, limb-girdle, type 1H autosomal dominant limb-girdle muscular dystrophy type 1H MONDO:0013298 The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent. https://github.com/monarch-initiative/mondo/issues/3492 https://github.com/monarch-initiative/mondo/issues/5588 17q21.31 microduplication syndrome chromosome 17q21.31 duplication syndrome dup(17)(q21.31) trisomy 17q21.31 chromosome 17q21.31 duplication syndrome MONDO:0013299 https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/4521 chromosome 6q11-q14 deletion syndrome chromosome 6q11-q14 deletion syndrome, isolated cases chromosome 6Q13-q14 deletion syndrome chromosome 6q11-q14 deletion syndrome MONDO:0013300 Greatly exaggerated width of the mouth, resulting from failure of union of the maxillary and mandibular processes, with extension of the oral orifice toward the ear. The defect may be unilateral or bilateral. (Dorland, 27th ed) macrostomia commissural cleft, isolated lateral cleft, isolated macrostomia, isolated transverse cleft, isolated commissural facial cleft MONDO:0013301 Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men. aromatase deficiency congenital estrogen deficiency pseudohermaphroditism, female, due to placental aromatase deficiency aromatase deficiency https://rarediseases.info.nih.gov/diseases/365/aromatase-deficiency MONDO:0013302 A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1. NPHP11 nephronophthisis 11 nephronophthisis type 11 nephronophthisis 11 MONDO:0013303 Any autoimmune disease in which the cause of the disease is a mutation in the SIAE gene. SIAE autoimmune disease autoimmune disease caused by mutation in SIAE autoimmune disease, susceptibility to, 6 autoimmune disease, susceptibility to, type 6 AIS6 susceptibility to autoimmune disease 6 autoimmune disease, susceptibility to, 6 MONDO:0013304 Type 2 von Willebrand disease (type 2 VWD) is a form of VWD characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (von Willebrand factor; VWF). https://github.com/monarch-initiative/mondo/issues/4521 VWD type 2 VWD2 von Willebrand disease 2 von Willebrand disease type 2 von Willebrand disease type II von Willebrand disease, types 2A, 2B, 2M, and 2N von Willebrand's disease type 2 von willebrand's disease 2 VON WILLEBRAND disease, type 2 VWD, type 2 Von Willebrand disease, type 2 Von Willebrand disease, type 2A Von Willebrand disease, type 2B Von Willebrand disease, type 2M Von Willebrand disease, type 2N von Willebrand disease 2 MONDO:0013305 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has material basis in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 chromosome 9q21.11 duplication syndrome DFNA51 autosomal dominant deafness 51 autosomal dominant nonsyndromic deafness 51 autosomal dominant nonsyndromic deafness type 51 chromosome 9Q21.11 Duplication syndrome deafness, autosomal dominant 51 deafness, autosomal dominant type 51 autosomal dominant nonsyndromic hearing loss 51 MONDO:0013306 Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life. C12ORF65 combined oxidative phosphorylation deficiency C12orf65 combined oxidative phosphorylation deficiency COXPD7 combined oxidative phosphorylation deficiency caused by mutation in C12ORF65 combined oxidative phosphorylation deficiency caused by mutation in C12orf65 combined oxidative phosphorylation deficiency type 7 severe C12ORF65-related COXPD severe C12ORF65-related combined oxidative phosphorylation defect combined oxidative phosphorylation deficiency 7 combined oxidative phosphorylation defect type 7 MONDO:0013307 Any mitochondrial myopathy and sideroblastic anemia in which the cause of the disease is a mutation in the YARS2 gene. YARS2 mitochondrial myopathy and sideroblastic anemia mitochondrial myopathy and sideroblastic anemia caused by mutation in YARS2 myopathy, lactic acidosis, and sideroblastic Anemia type 2 myopathy, lactic acidosis, and sideroblastic anemia 2 MLASA2 myopathy, lactic acidosis, and sideroblastic anemia 2 MONDO:0013308 CBL-related disorder is a genetic condition caused by pathogenic variants in the Cbl ubiquitin ligase gene, (CBL; HGNC:1541). Due to the proposed mechanism indicating the CBL gene's relationship to the RAS-MAPK pathway and the phenotypic presentation similar to that of the RASopathies, CBL-related disorder should be considered a RASopathy disorder. Though there is a wide spectrum of phenotypic variability, broadly, patients with CBL-related disorder have presented with developmental delay, intellectual disability, neurodevelopmental alterations, prenatal lymphatic anomalies, cardiac malformations as well as vascular anomalies particularly affecting the brain (e.g. Moya-moya arteriopathies), craniofacial features indicative of a RASopathy, hypotonia, feeding difficulties, edema of the legs, musculoskeletal and respiratory thorax abnormalities, ectodermal features including cafe-au-lait spots, immunological and hematological disorders and susceptibility to tumors diagnosed as juvenile myelomonocytic leukemia (JMML) that is usually self-remitting. Note tumor risk beyond JMML has not yet been thoroughly assessed. Due to the clinical presentation of a broad spectrum of these and other phenotypes in patients with variants in CBL, these conditions are currently defined by experts in reference to the causal gene, CBL. CBL-related disorder Cbl syndrome Noonan syndrome-like disorder with JMML Noonan syndrome-like disorder with juvenile myelomonocytic leukemia Noonan-like syndrome Cbl mutation-associated syndrome NSLL Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia CBL-related disorder MONDO:0013309 https://github.com/monarch-initiative/mondo/issues/3664 chromosome 2p12-p11.2 deletion syndrome chromosome 2p12-p11.2 deletion syndrome MONDO:0013310 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations. https://github.com/monarch-initiative/mondo/issues/4069 POR deficiency PORD congenital adrenal hyperplasia due to cytochrome POR deficiency adrenal hyperplasia, congenital, due to cytochrome P450 oxidoreductase deficiency disordered steroidogenesis due to POR deficiency disordered steroidogenesis due to cytochrome P450 oxidoreductase disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency https://rarediseases.info.nih.gov/diseases/12664/congenital-adrenal-hyperplasia-due-to-cytochrome-p450-oxidoreductase-deficiency MONDO:0013311 Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet. EDSS EDSS1 ectodermal dysplasia-syndactyly syndrome type 1 ectodermal dysplasia-syndactyly syndrome 1 ectodermal dysplasia-syndactyly syndrome MONDO:0013312 Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL6 gene. ARL6 retinitis pigmentosa RP55 retinitis pigmentosa 55 retinitis pigmentosa caused by mutation in ARL6 retinitis pigmentosa type 55 retinitis pigmentosa 55 MONDO:0013313 EDCS EDSS2 ectodermal dysplasia-syndactyly syndrome 2 ectodermal dysplasia-cutaneous syndactyly syndrome MONDO:0013314 Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPG2 gene. IMPG2 retinitis pigmentosa RP56 retinitis pigmentosa 56 retinitis pigmentosa caused by mutation in IMPG2 retinitis pigmentosa type 56 maculopathy, Impg2-related retinitis pigmentosa 56 MONDO:0013315 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6G gene. PDE6G retinitis pigmentosa RP57 retinitis pigmentosa 57 retinitis pigmentosa caused by mutation in PDE6G retinitis pigmentosa type 57 retinitis pigmentosa 57 MONDO:0013316 Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms. OCMD OMD occult macular dystrophy Omd occult macular dystrophy MONDO:0013317 Torsade-de-pointes (TdP) syndrome with short coupling interval is a very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death. torsade DE pointes, short-coupled variant torsade-de-pointes syndrome with short coupling interval MONDO:0013318 early repolarization associated with ventricular fibrillation early repolarization syndrome early repolarization associated with ventricular fibrillation MONDO:0013319 chromosome 4Q32.1-q32.2 triplication syndrome chromosome 4Q32.1-q32.2 triplication syndrome MONDO:0013320 16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/4521 16p11.2-p12.2 microdeletion syndrome 16p11.2p12.2 microdeletion syndrome Del(16)(p11.2p12.2) chromosome 16p12.2-p11.2 deletion syndrome, isolated cases monosomy 16p11.2-p12.2 monosomy 16p11.2p12.2 chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-MB chromosome 16p12.2-p11.2 deletion syndrome MONDO:0013321 FWS FORSYTHE-WAKELING syndrome microcephaly and Growth retardation with childhood-onset nephrotic syndrome and thrombocytopenia forsythe-wakeling syndrome MONDO:0013322 FAME3 cortical myoclonic tremor with epilepsy, familial, 3 epilepsy, familial ADULT myoclonic, 3 epilepsy, familial adult myoclonic, 3 MONDO:0013323 Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the WDR35 gene. Cranioectodermal dysplasia type 2 WDR35 cranioectodermal dysplasia cranioectodermal dysplasia 2 cranioectodermal dysplasia caused by mutation in WDR35 CED2 CRANIOECTODERMAL dysplasia 2 cranioectodermal dysplasia 2 MONDO:0013324 CATLPH choanal atresia and lymphedema lymphedema-posterior choanal atresia syndrome MONDO:0013325 COG5-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia. CDG syndrome type III CDG-III CDG2I COG5-CDG COG5-congenital disorder of glycosylation carbohydrate deficient glycoprotein syndrome type III congenital disorder of glycosylation type 2i congenital disorder of glycosylation type III CDG III CDG syndrome type 3 COG5-CDG (CDG-III) congenital disorder of glycosylation, type III COG5-congenital disorder of glycosylation https://rarediseases.info.nih.gov/diseases/1173/cdg-syndrome-type-3 MONDO:0013326 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene. SDCCAG8 Senior-Loken syndrome Senior-Loken syndrome 7 Senior-Loken syndrome caused by mutation in SDCCAG8 Senior-Loken syndrome type 7 SENIOR-Loken syndrome 7 SLSN7 Senior-Loken syndrome 7 MONDO:0013327 Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis. HOGA1 primary hyperoxaluria primary hyperoxaluria caused by mutation in HOGA1 primary hyperoxaluria type III HP3 PH III hyperoxaluria, primary, type 3 hyperoxaluria, primary, type III primary hyperoxaluria type 3 https://rarediseases.info.nih.gov/diseases/10738/primary-hyperoxaluria-type-3 MONDO:0013328 Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF513 gene. RP58 ZNF513 retinitis pigmentosa retinitis pigmentosa 58 retinitis pigmentosa caused by mutation in ZNF513 retinitis pigmentosa type 58 retinitis pigmentosa 58 MONDO:0013329 17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot. https://github.com/monarch-initiative/mondo/issues/3492 hereditary clubfoot due to 17q23.1-q23.2 microduplication chromosome 17q23.1-q23.2 DUPLICATION syndrome familial clubfoot due to 17q23.1q23.2 microduplication MONDO:0013330 agenesis of the corpus callosum and congenital lymphedema agenesis of the corpus callosum and congenital lymphedema MONDO:0013331 Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the MCFD2 gene. https://github.com/monarch-initiative/mondo/issues/4521 MCFD2 combined deficiency of factor V and factor VIII combined deficiency of factor V and factor VIII caused by mutation in MCFD2 factor 5 and Factor VIII, combined deficiency of, 2 factor 5 and Factor VIII, combined deficiency of, type 2 factor V and factor VIII, combined deficiency of F5F8D2 factor V and factor VIII, combined deficiency of, 2 factor 5 and Factor VIII, combined deficiency of, 2 MONDO:0013332 brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation Tsukahara syndrome brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability MONDO:0013333 An often asymptomatic developmental abnormality of the cervical spine. It is characterized by the hypoplasia of the odontoid which appears as a stubby peg of an odontoid process. Symptoms may develop after minor trauma and include localized neck pain, atlantoaxial instability, and transient or permanent neurologic manifestations. odontoid hypoplasia odontoid hypoplasia MONDO:0013334 Fetal encasement syndrome is a rare, lethal developmental defect during embryogenesis characterized by severe fetal malformations, including craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile, hypoplastic limbs encased under an abnormal, transparent, membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horse-shoe kidneys and diaphragm and lung lobulation defects is reported. cocoon syndrome fetal encasement syndrome cocoon syndrome MONDO:0013335 https://github.com/monarch-initiative/mondo/issues/4521 tuberculin skin test reactivity, absence of Tst1 tst reactivity, absence of tuberculin skin test reactivity, absence of MONDO:0013336 19p13.13 microdeletion syndrome is a rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation). https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/5588 Del(19)(p13.13) chromosome 19p13.13 deletion syndrome monosomy 19p13.13 19p13.13 microdeletion syndrome chromosome 19P13.13 Duplication syndrome chromosome 19p13.13 deletion syndrome MONDO:0013337 A hereditary sensory and autonomic neuropathy type 1 that has material basis in heterozygous mutation in the SPTLC2 gene on chromosome 14q24. HSAN1C hereditary sensory and autonomic neuropathy type IC HSAN 1C HSN 1C hereditary sensory and autonomic neuropathy type 1C neuropathy, hereditary sensory and autonomic, type IC neuropathy, hereditary sensory, type 1C neuropathy, hereditary sensory and autonomic, type 1C MONDO:0013338 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B is an extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology. CMTRIB Charcot-Marie-Tooth disease caused by mutation in KARS Charcot-Marie-Tooth disease recessive intermediate type B Charcot-Marie-Tooth disease, recessive Intermediate type B Charcot-Marie-Tooth neuropathy recessive intermediate B KARS Charcot-Marie-Tooth disease RI-CMT type B RI-CMTB autosomal recessive intermediate Charcot-Marie-Tooth disease type B Charcot-Marie-Tooth disease, recessive intermediate B Charcot-Marie-Tooth disease, recessive intermediate, B Charcot-Marie-Tooth neuropathy, recessive Intermediate B Charcot-Marie-Tooth disease recessive intermediate B MONDO:0013339 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SDHA gene. CMD1GG SDHA familial isolated dilated cardiomyopathy cardiomyopathy, dilated, type 1Gg dilated cardiomyopathy type 1GG familial isolated dilated cardiomyopathy caused by mutation in SDHA cardiomyopathy, dilated, 1GG dilated cardiomyopathy 1GG MONDO:0013340 An inherited susceptibility or predisposition to developing young-onset Parkinson disease in which the cause of the disease is a mutation in the UCHL1 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 Parkinson disease 5, autosomal dominant, susceptibility to Parkinson disease 5, susceptibility to UCHL1 young-onset Parkinson disease young-onset Parkinson disease caused by mutation in UCHL1 PARK5 susceptibility to autosomal dominant Parkinson disease 5 Parkinson disease 5, autosomal dominant, susceptibility to MONDO:0013341 Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported. CD320 methylmalonic acidemia methylmalonic acidemia caused by mutation in CD320 methylmalonic acidemia, TCb1R type methylmalonic acidemia, TCbIR type methylmalonic aciduria due to transcobalamin receptor defect methylmalonic acidemia, Tcblr type methylmalonic aciduria, transient, due to transcobalamin receptor defect methylmalonic acidemia due to transcobalamin receptor defect MONDO:0013342 Autosomal recessive spastic paraplegia type 48 (SPG48) is a form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and parkinsonism, as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging), has also been reported. AP5Z1 hereditary spastic paraplegia SPG48 autosomal recessive spastic paraplegia 48 autosomal recessive spastic paraplegia type 48 hereditary spastic paraplegia caused by mutation in AP5Z1 hereditary spastic paraplegia type 48 spastic paraplegia 48, autosomal recessive hereditary spastic paraplegia 48 MONDO:0013343 C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis. C1q is a complex and together with other proteins, C1r and C1s, it forms the C1 complex. This complex is important for the activation of the complement system (a group of proteins that work with the immune system). It also disposes cells that are dead. C1q deficiency presents in 2 different forms, absent C1q protein or abnormal C1q protein. Symptoms include infections (ear infections (otitis media), meningitis, urinary tract infections, oral infections); skin lesions (small blisters (vesicles), dark patches, and atrophic areas) that get worse upon light exposure; cataracts; loss of eyelashes, eyebrows, and scalp hair; blood in urine; and glomerulonephritis. About 93% of cases are associated with systemic lupus erythematosus. It can be caused by mutations in the C1QA, C1QB or C1QC genes and is inherited in an autosomal recessive pattern. Treatment depends on the symptoms. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation, a procedure in which a person receives blood-forming stem cells (cells from which all blood cells develop) from a genetically similar, but not identical donor. C1Q deficiency C1QD C1q deficiency C1Q deficiency https://rarediseases.info.nih.gov/diseases/12958/c1q-deficiency MONDO:0013344 Any migraine disorder in which the cause of the disease is a mutation in the KCNK18 gene. KCNK18 migraine disorder migraine disorder caused by mutation in KCNK18 migraine, with or without aura, susceptibility to, 13 migraine, with or without aura, susceptibility to, type 13 MGR13 migraine with or without aura, susceptibility to, 13 susceptibility to migraine with or without aura 13 migraine, with or without aura, susceptibility to, 13 MONDO:0013345 Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the IDH2 gene. D-2-hydroxyglutaric aciduria caused by mutation in IDH2 D-2-hydroxyglutaric aciduria type 2 IDH2 D-2-hydroxyglutaric aciduria d-2-hydroxyglutaric aciduria 2 D-2-hydroxyglutaric aciduria 2 D2HGA2 d-2-hydroxyglutaric aciduria 2 MONDO:0013348 Any cone-rod dystrophy in which the cause of the disease is a mutation in the CDHR1 gene. CDHR1 cone-rod dystrophy CORD15 cone-rod dystrophy 15 cone-rod dystrophy caused by mutation in CDHR1 cone-rod dystrophy type 15 retinitis pigmentosa 65 cone-rod dystrophy 15 MONDO:0013349 A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3). ALG11-CDG ALG11-congenital disorder of glycosylation CDG syndrome type Ip CDG-Ip CDG1P carbohydrate deficient glycoprotein syndrome type Ip congenital disorder of glycosylation type 1p congenital disorder of glycosylation type Ip ALG11-CDG (CDG-Ip) congenital disorder of glycosylation, type Ip ALG11-congenital disorder of glycosylation MONDO:0013350 mitochondrial DNA depletion syndrome type 4b MTDPS4B Mngie, Polg-related mitochondrial DNA depletion syndrome 4B (MNGIE type) mitochondrial neurogastrointestinal encephalopathy syndrome, Polg-related mitochondrial DNA depletion syndrome 4b MONDO:0013351 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination. microcephaly, postnatal progressive, with seizures and brain atrophy postnatal progressive microcephaly, seizures, and brain atrophy infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly MONDO:0013352 Intellectual disability-severe speech delay-mild dysmorphism syndrome, also known as intellectual disability with language impairment and with or without autistic features, is adisorder characterized by global developmental delay with moderate to severe speech delay thataffects expressive speech. Most patients have difficulty articulating words. Common signs and symptoms include broad forehead, downslanting palpebral fissures, short nose with broad tip, head appearing too large for the body, frontal hair upsweep, and bulging digit pads anddelatyed gross motor skills. Some patients have autistic features and/or behavioral problems. Congenital malformations may be associated. All reported cases have occurred de novo (without any cases in the family). It is caused by alterations (mutations) in the caused by heterozygous mutation in the FOXP1 gene. https://github.com/monarch-initiative/mondo/issues/5588 intellectual disability-severe speech delay-mild dysmorphism syndrome FOXP1 related global developmental delay, intellectual disability and speech defects intellectual disability with language impairment and with or without autistic features mental retardation with language impairment and with or without autistic features intellectual disability-severe speech delay-mild dysmorphism syndrome https://rarediseases.info.nih.gov/diseases/12501/intellectual-disability-severe-speech-delay-mild-dysmorphism-syndrome MONDO:0013353 intellectual disability, anterior maxillary protrusion, and strabismus MRAMS mental retardation, anterior maxillary protrusion, and strabismus intellectual disability, anterior maxillary protrusion, and strabismus MONDO:0013354 Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MTPAP gene. MTPAP autosomal recessive spastic ataxia SPAX4 autosomal recessive spastic ataxia caused by mutation in MTPAP autosomal recessive spastic ataxia type 4 spastic ataxia type 4 autosomal recessive spastic ataxia - optic atrophy - dysarthria autosomal recessive spastic ataxia 4 autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome spastic ataxia 4, autosomal recessive spastic ataxia 4 MONDO:0013355 Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 CDA IV CDA due to KLF1 mutation CDA type 4 CDA type IV CDAN4 congenital dyserythropoietic anemia due to KLF1 mutation congenital dyserythropoietic anemia type 4 dyserythropoietic anemia, congenital, type IV CDA, type 4 anemia, congenital dyserythropoietic, type 4 anemia, congenital dyserythropoietic, type IV congenital dyserythropoietic anemia type 4 MONDO:0013356 Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene. SOX17 vesicoureteral reflux (disease) vesicoureteral reflux (disease) caused by mutation in SOX17 vesicoureteral reflux 3 vesicoureteral reflux type 3 VUR3 vesicoureteral reflux 3 MONDO:0013357 A rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas. https://github.com/monarch-initiative/mondo/issues/4209 17q11 microdeletion syndrome Del(17)(q11) MMFD NF1 microdeletion syndrome NF1 microduplication syndrome RNF135-related overgrowth syndrome Van Asperen syndrome chromosome 17q11.2 deletion syndrome chromosome 17q11.2 deletion syndrome, 1.4-MB macrocephaly, macrosomia, and facial dysmorphism syndrome monosomy 17q11 neurofibromatosis 1 microdeletion syndrome neurofibromatosis type 1 microdeletion syndrome overgrowth-macrocephaly-facial dysmorphism syndrome chromosome 17q11.2 deletion syndrome, 1.4Mb https://rarediseases.info.nih.gov/diseases/5408/chromosome-17q112-deletion-syndrome MONDO:0013358 Any Seckel syndrome in which the cause of the disease is a mutation in the CENPJ gene. CENPJ Seckel syndrome SCKL4 Seckel syndrome 4 Seckel syndrome caused by mutation in CENPJ Seckel syndrome type 4 Seckel syndrome 4 MONDO:0013359 Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia. FH-III FH3 familial hyperaldosteronism type 3 FH 3 FH III HALD3 hyperaldosteronism, familial, type 3 hyperaldosteronism, familial, type III familial hyperaldosteronism type III MONDO:0013360 Autosomal recessive brachyolmia, Maroteaux type is a relatively mild form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short trunk/short stature, generalized platyspondyly and rounding of vertebral bodies. It remains unknown whether the phenotype represents a single disease entity or a heterogeneous group of mild skeletal dysplasias. brachyolmia type 2 brachyolmia, Maroteaux type BCYM2 brachyolmia, Maroteaux type MONDO:0013361 Congenital factor II deficiency is an inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous bleeding symptoms. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 factor 2 deficiency factor II deficiency hypoprothrombinemia prothrombin deficiency Dysprothrombinemia congenital prothrombin deficiency hereditary prothrombin deficiency congenital factor II deficiency prothrombin deficiency, congenital congenital prothrombin deficiency https://rarediseases.info.nih.gov/diseases/2235/factor-2-deficiency MONDO:0013362 https://github.com/monarch-initiative/mondo/issues/5588 BBIS Beaulieu-Boycott-Innes syndrome BEAULIEU-BOYCOTT-Innes syndrome microcephaly, intellectual disability, and distinctive facies, with Cardiac and genitourinary malformations microcephaly, mental retardation, and distinctive facies, with Cardiac and genitourinary malformations THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome MONDO:0013363 https://github.com/monarch-initiative/mondo/issues/3492 https://github.com/monarch-initiative/mondo/issues/4278 2q31.1 microduplication syndrome chromosome 2q31.1 duplication syndrome dup(2)(q31.1) trisomy 2q31.1 mesomelic dysplasia, 2Q31.1 Duplication-related chromosome 2q31.1 duplication syndrome MONDO:0013364 Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the EP300 gene. https://github.com/monarch-initiative/mondo/issues/4948 EP300 Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome caused by mutation in EP300 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Rubinstein-Taybi syndrome type 2 RSTS2 Rubinstein-Taybi syndrome 2 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency MONDO:0013365 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 9p23-p21.2. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB83 autosomal recessive deafness 83 autosomal recessive nonsyndromic deafness 83 autosomal recessive nonsyndromic deafness type 83 deafness, autosomal recessive 83 autosomal recessive nonsyndromic hearing loss 83 MONDO:0013366 Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the HES7 gene. https://github.com/monarch-initiative/mondo/issues/4948 HES7 autosomal recessive spondylocostal dysostosis Hes7 autosomal recessive spondylocostal dysostosis autosomal recessive spondylocostal dysostosis caused by mutation in HES7 autosomal recessive spondylocostal dysostosis caused by mutation in Hes7 spondylocostal dysostosis 4, autosomal recessive SCDO4 spondylocostal dysostosis 4 spondylocostal dysostosis 4, autosomal recessive MONDO:0013367 An autosomal dominant condition caused by mutation(s) in the KCNH2 gene, encoding potassium voltage-gated channel subfamily H member 2. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death. https://github.com/monarch-initiative/mondo/issues/4521 LQT2 Long QT syndrome, acquired, reduced susceptibility to long QT syndrome 2 long QT syndrome type 2 long QT syndrome 1/2, digenic long QT syndrome 2, acquired, susceptibility to long QT syndrome 2/3, digenic long QT syndrome 2/5, digenic long QT syndrome 2/9, digenic long QT syndrome 2 https://rarediseases.info.nih.gov/diseases/3285/long-qt-syndrome-2 MONDO:0013368 Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females. MDN syndrome mammary-digital-nail syndrome onycho-digito-mammary syndrome MDNS mammary-digital-nail syndrome MONDO:0013369 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene. https://github.com/monarch-initiative/mondo/issues/4521 CMH7 TNNI3 hypertrophic cardiomyopathy cardiomyopathy, familial hypertrophic 7 cardiomyopathy, familial hypertrophic, type 7 cardiomyopathy, hypertrophic, 7 hypertrophic cardiomyopathy 7 hypertrophic cardiomyopathy caused by mutation in TNNI3 hypertrophic cardiomyopathy type 7 cardiomyopathy, familial hypertrophic, 7 hypertrophic cardiomyopathy 7 MONDO:0013370 Any long QT syndrome in which the cause of the disease is a mutation in the KCNE2 gene. KCNE2 long QT syndrome LQT6 long QT syndrome 6 long QT syndrome caused by mutation in KCNE2 long QT syndrome type 6 long QT syndrome 3/6, digenic long QT syndrome 6, acquired, susceptibility to long QT syndrome 6 https://rarediseases.info.nih.gov/diseases/10434/long-qt-syndrome-6 MONDO:0013371 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN1 gene. CMD1U PSEN1 familial isolated dilated cardiomyopathy cardiomyopathy, dilated, type 1U dilated cardiomyopathy type 1U familial isolated dilated cardiomyopathy caused by mutation in PSEN1 cardiomyopathy, dilated, 1U dilated cardiomyopathy 1U MONDO:0013372 Any long QT syndrome in which the cause of the disease is a mutation in the KCNE1 gene. KCNE1 long QT syndrome LQT5 long QT syndrome 5 long QT syndrome caused by mutation in KCNE1 long QT syndrome type 5 long QT syndrome 2/5, digenic long QT syndrome 5, acquired, susceptibility to long QT syndrome 5 https://rarediseases.info.nih.gov/diseases/10433/long-qt-syndrome-5 MONDO:0013373 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN2 gene. CMD1V PSEN2 familial isolated dilated cardiomyopathy cardiomyopathy, dilated, type 1V dilated cardiomyopathy type 1V familial isolated dilated cardiomyopathy caused by mutation in PSEN2 cardiomyopathy, dilated, 1V dilated cardiomyopathy 1V MONDO:0013374 https://github.com/monarch-initiative/mondo/issues/4521 supernumerary der(22)t(8-22) syndrome supernumerary der(22)t(8;22) syndrome supernumerary der(22)t(8;22) syndrome MONDO:0013375 Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF3 gene. https://github.com/monarch-initiative/mondo/issues/4948 GDF3 isolated Klippel-Feil syndrome Klippel-Feil syndrome 3, autosomal dominant isolated Klippel-Feil syndrome caused by mutation in GDF3 KFS3 Klippel-FEIL syndrome 3, autosomal dominant Klippel-Feil syndrome 3, autosomal dominant MONDO:0013376 https://github.com/monarch-initiative/mondo/issues/4521 microphthalmia with coloboma 6 microphthalmia with coloboma 6, digenic microphthalmia, isolated, with coloboma 6 microphthalmia, isolated, with coloboma type 6 MCOPCB6 microphthalmia, isolated, with coloboma 6 MONDO:0013377 Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF3 gene. GDF3 isolated microphthalmia MCOP7 isolated microphthalmia caused by mutation in GDF3 isolated microphthalmia type 7 microphthalmia, isolated type 7 microphthalmia, isolated 7 isolated microphthalmia 7 MONDO:0013378 Any orofacial cleft in which the cause of the disease is a mutation in the SUMO1 gene. https://github.com/monarch-initiative/mondo/issues/4521 SUMO1 orofacial cleft orofacial cleft 10 orofacial cleft 10, isolated cases orofacial cleft caused by mutation in SUMO1 orofacial cleft type 10 OFC10 cleft lip with or without cleft palate, nonsyndromic, 10 orofacial cleft 10 MONDO:0013379 Any Noonan syndrome in which the cause of the disease is a mutation in the BRAF gene. BRAF Noonan syndrome NS7 Noonan syndrome 7 Noonan syndrome caused by mutation in BRAF Noonan syndrome type 7 Noonan syndrome 7 MONDO:0013380 Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the BRAF gene. BRAF Noonan syndrome with multiple lentigines LEOPARD syndrome 3 Leopard syndrome type 3 Noonan syndrome with multiple lentigines caused by mutation in BRAF leopard syndrome 3 LPRD3 LEOPARD syndrome 3 MONDO:0013381 A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of a distal axonal sensory neuropathy that has material basis in heterozygous mutation in the ATL1 gene on chromosome 14q. HSN1D hereditary sensory neuropathy type 1D hereditary sensory neuropathy type ID neuropathy, hereditary sensory, type ID neuropathy, hereditary sensory, type 1D MONDO:0013382 Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities. https://github.com/monarch-initiative/mondo/issues/4521 thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) THMD4 bilateral striatal Degeneration and progressive polyneuropathy progressive polyneuropathy with bilateral striatal necrosis striatal Necrosis, bilateral, and progressive polyneuropathy thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type) progressive demyelinating neuropathy with bilateral striatal necrosis MONDO:0013383 GDNF Hirschsprung disease Hirschsprung disease caused by mutation in GDNF Hirschsprung disease, susceptibility to, 3 Hirschsprung disease, susceptibility to, type 3 HSCR3 Hirschsprung disease modifier Hirschsprung disease type 3 susceptibility to Hirschsprung disease 3 Hirschsprung disease, susceptibility to, 3 https://rarediseases.info.nih.gov/diseases/2699/hirschsprung-disease-type-3 MONDO:0013384 An inherited susceptibility or predisposition to developing Hirschsprung disease in which the cause of the disease is a mutation in the EDN3 gene. EDN3 Hirschsprung disease Hirschsprung disease caused by mutation in EDN3 Hirschsprung disease, susceptibility to, 4 Hirschsprung disease, susceptibility to, type 4 HSCR4 susceptibility to Hirschsprung disease 4 Hirschsprung disease, susceptibility to, 4 MONDO:0013385 Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1D gene. https://github.com/monarch-initiative/mondo/issues/4948 POLR1D Treacher-Collins syndrome Treacher Collins syndrome 2 Treacher Collins syndrome type 2 Treacher-Collins syndrome caused by mutation in POLR1D TCS2 TREACHER COLLINS syndrome 2 Treacher Collins syndrome 2 MONDO:0013386 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MSRB3 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB74 MSRB3 autosomal recessive nonsyndromic deafness autosomal recessive deafness 74 autosomal recessive nonsyndromic deafness 74 autosomal recessive nonsyndromic deafness caused by mutation in MSRB3 autosomal recessive nonsyndromic deafness type 74 deafness, autosomal recessive 74 deafness, autosomal recessive type 74 autosomal recessive nonsyndromic hearing loss 74 MONDO:0013387 KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability. https://github.com/monarch-initiative/mondo/issues/4521 DEE7 EIEE7 KCNQ2-NEE KCNQ2-related epileptic encephalopathy KCNQ2-related neonatal epileptic encephalopathy developmental and epileptic encephalopathy 7 epileptic encephalopathy, early infantile, 7 epileptic encephalopathy, early infantile, type 7 KCNQ2-related disorders developmental and epileptic encephalopathy, 7 MONDO:0013388 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN2A gene. https://github.com/monarch-initiative/mondo/issues/4521 DEE11 EIEE11 SCN2A early infantile epileptic encephalopathy developmental and epileptic encephalopathy 11 early infantile epileptic encephalopathy caused by mutation in SCN2A epileptic encephalopathy, early infantile, 11 epileptic encephalopathy, early infantile, type 11 developmental and epileptic encephalopathy, 11 MONDO:0013389 An extremely rare nervous system disorder. Infants with EIEE12 develop very frequent epileptic seizures. Seizures present within the first days to months of life. Seizures may trigger eye rolling, eyelid fluttering, lip smacking, drooling, bluish coloring around the mouth, limpness, or muscle stiffening (particularly those in his or her back, legs, and arms). The seizures associated with this disease are difficult to treat and the syndrome is severely progressive. EIEE12 occurs when a child inherits two mutations in the PLCB1 gene (one from each parent). EIEE12 is inherited in an autosomal recessive fashion. https://github.com/monarch-initiative/mondo/issues/4521 DEE12 EIEE12 PLCB1 early infantile epileptic encephalopathy developmental and epileptic encephalopathy 12 developmental and epileptic encephalopathy, 12 early infantile epileptic encephalopathy 12 early infantile epileptic encephalopathy caused by mutation in PLCB1 epileptic encephalopathy, early infantile, 12 epileptic encephalopathy, early infantile, type 12 developmental and epileptic encephalopathy, 12 https://rarediseases.info.nih.gov/diseases/13318/early-infantile-epileptic-encephalopathy-12 MONDO:0013390 Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMD2Q) is a form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases. https://github.com/monarch-initiative/mondo/issues/4521 LGMD2Q autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency muscular dystrophy, limb-girdle, autosomal recessive 17 muscular dystrophy, limb-girdle, type 2Q limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy type 2Q MONDO:0013391 A peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy. SCP2 deficiency leukoencephalopathy-dystonia-motor neuropathy syndrome sterol carrier protein 2 deficiency LKDMN leukoencephalopathy - dystonia - motor neuropathy leukoencephalopathy with dystonia and motor neuropathy sterol carrier protein 2 deficiency MONDO:0013392 Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the ANO10 gene. ANO10 autosomal recessive cerebellar ataxia SCAR10 autosomal recessive cerebellar ataxia caused by mutation in ANO10 autosomal recessive spinocerebellar ataxia type 10 spinocerebellar ataxia, autosomal recessive type 10 adult-onset autosomal recessive cerebellar ataxia spinocerebellar ataxia, autosomal recessive 10 autosomal recessive spinocerebellar ataxia 10 MONDO:0013393 Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression). https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/4521 chromosome 7q11.23 deletion syndrome, distal, 1.2mb distal del(7)(q11.23) distal monosomy 7q11.23 chromosome 7q11.23 deletion syndrome, distal, 1.2-MB distal chromosome 7Q11.23 deletion syndrome distal 7q11.23 microdeletion syndrome MONDO:0013394 porencephaly-microcephaly-bilateral congenital cataract syndrome HDBSCC hemorrhagic destruction of the brain, subependymal calcification, and cataracts porencephaly-microcephaly-bilateral congenital cataract syndrome MONDO:0013395 Any retinitis pigmentosa in which the cause of the disease is a mutation in the RHO gene. https://github.com/monarch-initiative/mondo/issues/4521 RHO retinitis pigmentosa RP4 retinitis pigmentosa 4 retinitis pigmentosa 4, autosomal dominant or recessive retinitis pigmentosa caused by mutation in RHO retinitis pigmentosa type 4 RP 4 retinitis pigmentosa, rhodopsin-related retinitis pigmentosa 4 https://rarediseases.info.nih.gov/diseases/10405/retinitis-pigmentosa-4 MONDO:0013396 1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures. https://github.com/monarch-initiative/mondo/issues/3664 1p31p32 microdeletion syndrome Del(1)(p31p32) chromosome 1p32-p31 deletion syndrome monosomy 1p31p32 BRMUTD brain malformations with or without urinary tract defects chromosome 1p32-p31 deletion syndrome MONDO:0013397 Any familial acne inversa in which the cause of the disease is a mutation in the PSENEN gene. PSENEN familial acne inversa acne inversa, familial, 2 acne inversa, familial, type 2 familial acne inversa caused by mutation in PSENEN ACNINV2 acne inversa, familial, 2, with or without Dowling-Degos disease acne inversa, familial, 2 MONDO:0013398 Any familial acne inversa in which the cause of the disease is a mutation in the PSEN1 gene. PSEN1 familial acne inversa acne inversa, familial, 3 acne inversa, familial, type 3 familial acne inversa caused by mutation in PSEN1 ACNINV3 acne inversa, familial, 3 MONDO:0013400 A rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the <i>CYP11A1</i> gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels. https://github.com/monarch-initiative/mondo/issues/4521 XY sex reversal-adrenal failure XY sex reversal-adrenal failure syndrome adrenal insufficiency, congenital, with 46,XY SEX reversal, partial or complete adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete cholesterol side-chain cleavage deficiency p450scc deficiency 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency syndrome Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency MONDO:0013401 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4E1 gene. AP4E1 hereditary spastic paraplegia CPSQ4 SPG51 autosomal dominant spastic paraplegia 51 hereditary spastic paraplegia caused by mutation in AP4E1 hereditary spastic paraplegia type 51 spastic quadriplegic cerebral palsy 4 cerebral palsy, spastic quadriplegic, 4 cerebral palsy, spastic quadriplegic, 4, formerly spastic paraplegia 51, autosomal recessive hereditary spastic paraplegia 51 MONDO:0013402 Any retinitis pigmentosa in which the cause of the disease is a mutation in the NRL gene. NRL retinitis pigmentosa RP27 retinitis pigmentosa 27 retinitis pigmentosa caused by mutation in NRL retinitis pigmentosa type 27 retinal Degeneration, autosomal recessive, Clumped pigment type retinitis pigmentosa 27 MONDO:0013403 Any visceral heterotaxy in which the cause of the disease is a mutation in the ACVR2B gene. ACVR2B visceral heterotaxy heterotaxy, visceral, 4, autosomal visceral heterotaxy caused by mutation in ACVR2B HTX4 heterotaxy, visceral, 4, autosomal MONDO:0013404 Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterised by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels. https://github.com/monarch-initiative/mondo/issues/5588 hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MONDO:0013405 Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGA1 gene. https://github.com/monarch-initiative/mondo/issues/5693 CNGA1 retinitis pigmentosa RP49 retinitis pigmentosa 49 retinitis pigmentosa caused by mutation in CNGA1 retinitis pigmentosa type 49 retinitis pigmentosa 49 MONDO:0013406 Any age-related macular degeneration in which the cause of the disease is a mutation in the RAX2 gene. ARMD6 RAX2 age-related macular degeneration age related macular degeneration type 6 age-related macular degeneration caused by mutation in RAX2 macular Degeneration, age-related, type 6 macular degeneration, age-related, 6 age related macular degeneration 6 MONDO:0013407 Any retinitis pigmentosa in which the cause of the disease is a mutation in the SAG gene. RP47 SAG retinitis pigmentosa retinitis pigmentosa 47 retinitis pigmentosa caused by mutation in SAG retinitis pigmentosa type 47 retinitis pigmentosa 47 MONDO:0013408 A rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance. https://github.com/monarch-initiative/mondo/issues/4521 FADD-related immunodeficiency immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction Fadd deficiency infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations FADD-related immunodeficiency MONDO:0013409 An inherited susceptibility or predisposition to developing age related macular degeneration in which the cause of the disease is a mutation in the ERCC6 gene. https://github.com/monarch-initiative/mondo/issues/4521 ARMD5 ERCC6 age-related macular degeneration age related macular degeneration type 5 age-related macular degeneration caused by mutation in ERCC6 macular Degeneration, age-related, type 5 macular degeneration, age-related, susceptibility to, 5 macular degeneration, age-related, 5 age related macular degeneration 5 MONDO:0013410 https://github.com/monarch-initiative/mondo/issues/4521 46,XY Sex reversal type 6 46,XY sex reversal 6 46XY sex reversal 6 46,XY SEX reversal 6 46,XY Sex reversal, partial or complete, Map3K1-related 46,XY gonadal dysgenesis, partial or complete, Map3K1-related SRXY6 46,XY sex reversal 6 MONDO:0013411 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYAB gene. CRYAB early-onset non-syndromic cataract CTRCT16 early-onset non-syndromic cataract caused by mutation in CRYAB CTPP2 posterior polar cataract 2 cataract 16, multiple types cataract, congenital lamellar cataract, posterior polar, 2 cataract 16 multiple types MONDO:0013412 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TTN gene. CMH9 TTN hypertrophic cardiomyopathy cardiomyopathy, familial hypertrophic, 9 cardiomyopathy, familial hypertrophic, type 9 hypertrophic cardiomyopathy caused by mutation in TTN hypertrophic cardiomyopathy type 9 hypertrophic cardiomyopathy 9 MONDO:0013413 Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGB1 gene. https://github.com/monarch-initiative/mondo/issues/5693 CNGB1 retinitis pigmentosa RP45 retinitis pigmentosa 45 retinitis pigmentosa caused by mutation in CNGB1 retinitis pigmentosa type 45 retinitis pigmentosa 45 MONDO:0013414 Any retinitis pigmentosa in which the cause of the disease is a mutation in the RGR gene. RGR retinitis pigmentosa RP44 retinitis pigmentosa 44 retinitis pigmentosa caused by mutation in RGR retinitis pigmentosa type 44 retinitis pigmentosa 44 MONDO:0013415 https://github.com/monarch-initiative/mondo/issues/3664 chromosome 17p13.1 deletion syndrome 17p13.1 deletion syndrome chromosome 17p13.1 deletion syndrome MONDO:0013416 Any age-related macular degeneration in which the cause of the disease is a mutation in the ARMS2 gene. ARMD8 ARMS2 age-related macular degeneration age related macular degeneration type 8 age-related macular degeneration caused by mutation in ARMS2 macular Degeneration, age-related, type 8 macular degeneration, age-related, 8 age related macular degeneration 8 MONDO:0013417 A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the third complement component, C3. C3 deficiency may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If C3 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Deficiency of serum C3 and its major cleavage product, C3b, will decrease the effective humoral immune response to encapsulated bacteria. Deficiency of C3 also impairs clearance of circulating immune complexes and therefore predisposes to rheumatic and renal disease. C3 classic complement early component deficiency C3 deficiency classic complement early component deficiency caused by mutation in C3 C3 deficiency, autosomal recessive C3d complement component 3 deficiency, autosomal recessive complement component 3 deficiency MONDO:0013418 aortic aneurysm, familial thoracic 7 aortic aneurysm, familial thoracic type 7 AAT7 aortic dissection, familial, with or without aortic aneurysm aortic aneurysm, familial thoracic 7 MONDO:0013419 A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis. complement component C1s deficiency C1SD C1s deficiency complement component C1s deficiency MONDO:0013420 Any age-related macular degeneration in which the cause of the disease is a mutation in the CX3CR1 gene. ARMD12 CX3CR1 age-related macular degeneration age related macular degeneration type 12 age-related macular degeneration caused by mutation in CX3CR1 macular Degeneration, age-related, type 12 macular degeneration, age-related, 12 age related macular degeneration 12 MONDO:0013421 Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8B gene. https://github.com/monarch-initiative/mondo/issues/4521 C8 deficiency, type II C8B classic complement early component deficiency classic complement early component deficiency caused by mutation in C8B C8 Beta deficiency C8 deficiency type II C8 deficiency, type 2 C8B deficiency C8D2 Human complement C8-beta deficiency complement component 8 deficiency type 2 complement component 8 deficiency type II complement component 8 deficiency, type 2 complement component 8 deficiency, type II complement component 8B deficiency type II complement component 8 deficiency https://rarediseases.info.nih.gov/diseases/10625/complement-component-8-deficiency-type-2 MONDO:0013422 Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8A gene. https://github.com/monarch-initiative/mondo/issues/4521 C8 deficiency, type I C8A classic complement early component deficiency classic complement early component deficiency caused by mutation in C8A C8 Alpha-gamma deficiency C8 deficiency type I C8 deficiency, type 1 C81 deficiency C8Ag deficiency C8D1 complement component 8 deficiency type 1 complement component 8 deficiency type I complement component 8 deficiency, type 1 complement component 8 deficiency, type I type I complement component 8 deficiency https://rarediseases.info.nih.gov/diseases/10626/complement-component-8-deficiency-type-1 MONDO:0013423 Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic. immunodeficiency due to MASP-2 deficiency MASP2 deficiency lectin complement activation pathway, defect in, 2 immunodeficiency due to MASP-2 deficiency MONDO:0013424 Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated. https://github.com/monarch-initiative/mondo/issues/3664 3p- syndrome chromosome 3pter-p25 deletion syndrome distal 3p deletion distal monosomy 3p distal monosomy type 3p monosomy 3pter telomeric monosomy 3p 3p deletion 3p monosomy Del(3p) syndrome chromosome 3, monosomy 3p25 chromosome 3p deletion chromosome 3p- syndrome del(3p25) deletion 3p deletion 3p25 monosomy 3p partial monosomy 3p 3p- syndrome MONDO:0013425 Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPE65 gene. RP20 RPE65 retinitis pigmentosa retinitis pigmentosa 20 retinitis pigmentosa caused by mutation in RPE65 retinitis pigmentosa type 20 RP 20 retinitis pigmentosa 20 https://rarediseases.info.nih.gov/diseases/10404/retinitis-pigmentosa-20 MONDO:0013426 https://github.com/monarch-initiative/mondo/issues/4948 Loeys-Dietz syndrome type 3 aneurysm-osteoarthritis syndrome LDS3 Loeys-Dietz syndrome 3 Loeys-Dietz syndrome with osteoarthritis Loeys-Dietz syndrome, type 1C Loeys-Dietz syndrome, type 1C (formerly) Loeys-Dietz syndrome, type 1C, formerly Loeys-Dietz syndrome, type 3 aneurysm - osteoarthritis syndrome aneurysms-osteoarthritis syndrome aneurysm-osteoarthritis syndrome MONDO:0013427 susceptibility to viral and mycobacterial infections STAT1 deficiency immunodeficiency 31B immunodeficiency type 31B IMD31B Stat1 deficiency, autosomal recessive immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive immunodeficiency 31B MONDO:0013428 Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC4 gene. https://github.com/monarch-initiative/mondo/issues/4948 Meier-Gorlin syndrome 2 Meier-Gorlin syndrome caused by mutation in ORC4 Meier-Gorlin syndrome type 2 ORC4 Meier-Gorlin syndrome MGORS2 Meier-GORLIN syndrome 2 Meier-Gorlin syndrome 2 MONDO:0013429 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6B gene. https://github.com/monarch-initiative/mondo/issues/4521 PDE6B retinitis pigmentosa RP40 retinitis pigmentosa 40 retinitis pigmentosa caused by mutation in PDE6B retinitis pigmentosa type 40 retinitis pigmentosa-40 retinitis pigmentosa 40 MONDO:0013430 Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC6 gene. https://github.com/monarch-initiative/mondo/issues/4948 Meier-Gorlin syndrome 3 Meier-Gorlin syndrome caused by mutation in ORC6 Meier-Gorlin syndrome type 3 ORC6 Meier-Gorlin syndrome MGORS3 Meier-GORLIN syndrome 3 Meier-Gorlin syndrome 3 MONDO:0013431 Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDT1 gene. https://github.com/monarch-initiative/mondo/issues/4948 CDT1 Meier-Gorlin syndrome Meier-Gorlin syndrome 4 Meier-Gorlin syndrome caused by mutation in CDT1 Meier-Gorlin syndrome type 4 MGORS4 Meier-GORLIN syndrome 4 Meier-Gorlin syndrome 4 MONDO:0013432 Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC6 gene. https://github.com/monarch-initiative/mondo/issues/4948 CDC6 Meier-Gorlin syndrome Meier-Gorlin syndrome 5 Meier-Gorlin syndrome caused by mutation in CDC6 Meier-Gorlin syndrome type 5 MGORS5 Meier-GORLIN syndrome 5 Meier-Gorlin syndrome 5 MONDO:0013433 Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure. PSC cholangitis, primary sclerosing primary sclerosing cholangitis MONDO:0013434 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC39 gene. CCDC39 primary ciliary dyskinesia CILD14 ciliary dyskinesia, primary, type 14 primary ciliary dyskinesia 14 primary ciliary dyskinesia 14 with or without situs inversus primary ciliary dyskinesia caused by mutation in CCDC39 primary ciliary dyskinesia type 14 ciliary dyskinesia, primary, 14 ciliary dyskinesia, primary, 14, with or without situs inversus primary ciliary dyskinesia 14 MONDO:0013435 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC40 gene. CCDC40 primary ciliary dyskinesia CILD15 ciliary dyskinesia, primary, type 15 primary ciliary dyskinesia 15 primary ciliary dyskinesia 15 with or without situs inversus primary ciliary dyskinesia caused by mutation in CCDC40 primary ciliary dyskinesia type 15 ciliary dyskinesia, primary, 15 ciliary dyskinesia, primary, 15, with or without situs inversus primary ciliary dyskinesia 15 MONDO:0013436 Any retinitis pigmentosa in which the cause of the disease is a mutation in the USH2A gene. RP39 USH2A retinitis pigmentosa retinitis pigmentosa 39 retinitis pigmentosa caused by mutation in USH2A retinitis pigmentosa type 39 retinitis pigmentosa 39 MONDO:0013437 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6A gene. PDE6A retinitis pigmentosa RP43 retinitis pigmentosa 43 retinitis pigmentosa caused by mutation in PDE6A retinitis pigmentosa type 43 retinitis pigmentosa 43 MONDO:0013438 Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the SEPSECS gene. SEPSECS non-syndromic pontocerebellar hypoplasia non-syndromic pontocerebellar hypoplasia caused by mutation in SEPSECS pontocerebellar hypoplasia type 2D Cerebellocerebral atrophy, progressive PCH2D cerebello-cerebral atrophy, progressive pontocerebellar hypoplasia, type 2D pontocerebellar hypoplasia type 2D MONDO:0013439 Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterized by severe neonatal cholestatic liver disease. https://github.com/monarch-initiative/mondo/issues/4069 BASD3 CBAS3 CYP7B1 congenital bile acid synthesis defect bile acid synthesis defect, congenital, type 3 congenital bile acid synthesis defect caused by mutation in CYP7B1 congenital bile acid synthesis defect type 3 oxysterol 7-alpha-hydroxylase deficiency bile acid synthesis defect, congenital, 3 congenital bile acid synthesis defect 3 MONDO:0013440 Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive mainly proximal muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles. DAG1 autosomal recessive limb-girdle muscular dystrophy LGMD2P MDDGC9 autosomal recessive limb-girdle muscular dystrophy caused by mutation in DAG1 muscular dystrophy-dystroglycanopathy (limb-girdle) type C9 muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related limb-girdle muscular dystrophy type 2P muscular dystrophy, limb-girdle, type 2P muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 muscular dystrophy-dystroglycanopathy, limb-girdle, Dag1-related autosomal recessive limb-girdle muscular dystrophy type 2P MONDO:0013441 An asphyxiating thoracic dystrophy has material basis in compound heterozygous mutation in the TTC21B gene on chromosome 2q24. ATD4 SRTD4 asphyxiating thoracic dystrophy 4 asphyxiating thoracic dystrophy type 4 short-rib thoracic dysplasia 4 with or without polydactyly asphyxiating thoracic dystrophy 4 MONDO:0013442 Any nephronophthisis in which the cause of the disease is a mutation in the TTC21B gene. NPHP12 TTC21B nephronophthisis (disease) nephronophthisis (disease) caused by mutation in TTC21B nephronophthisis 12 nephronophthisis type 12 Joubert syndrome 11 nephronophthisis 12 MONDO:0013443 Any Seckel syndrome in which the cause of the disease is a mutation in the CEP152 gene. https://github.com/monarch-initiative/mondo/issues/4948 CEP152 Seckel syndrome SCKL5 Seckel syndrome 5 Seckel syndrome caused by mutation in CEP152 Seckel syndrome type 5 Seckel syndrome 5 MONDO:0013444 Any nephronophthisis in which the cause of the disease is a mutation in the NEK8 gene. NEK8 nephronophthisis (disease) NPHP9 nephronophthisis (disease) caused by mutation in NEK8 nephronophthisis 9 nephronophthisis type 9 nephronophthisis 9 MONDO:0013445 Any classic complement early component deficiency in which the cause of the disease is a mutation in the C9 gene. C9 classic complement early component deficiency classic complement early component deficiency caused by mutation in C9 complement component 9 deficiency C9 deficiency C9D complement component 9 deficiency MONDO:0013446 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPGRIP1 gene. LCA6 Leber congenital amaurosis 6 Leber congenital amaurosis caused by mutation in RPGRIP1 Leber congenital amaurosis type 6 RPGRIP1 Leber congenital amaurosis Leber congenital amaurosis 6 https://rarediseases.info.nih.gov/diseases/10490/leber-congenital-amaurosis-6 MONDO:0013447 Any retinitis pigmentosa in which the cause of the disease is a mutation in the GUCA1B gene. GUCA1B retinitis pigmentosa RP48 retinitis pigmentosa 48 retinitis pigmentosa caused by mutation in GUCA1B retinitis pigmentosa type 48 retinitis pigmentosa 48 MONDO:0013448 GEFSP8 generalized epilepsy with febrile seizures plus, type 8 Gefs+, type 8 generalized epilepsy with febrile seizures plus, type 8 MONDO:0013449 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRX gene. CRX Leber congenital amaurosis LCA7 Leber congenital amaurosis 7 Leber congenital amaurosis caused by mutation in CRX Leber congenital amaurosis type 7 Leber congenital amaurosis 7 https://rarediseases.info.nih.gov/diseases/10880/leber-congenital-amaurosis-7 MONDO:0013450 Any congenital stationary night blindness in which the cause of the disease is a mutation in the SLC24A1 gene. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 CSNB1D SLC24A1 congenital stationary night blindness congenital stationary night blindness 1D congenital stationary night blindness 1D autosomal recessive congenital stationary night blindness caused by mutation in SLC24A1 congenital stationary night blindness type 1D night blindness, congenital stationary (complete), 1D, autosomal recessive Csnb, complete, autosomal recessive night blindness, congenital stationary, type 1D congenital stationary night blindness 1D MONDO:0013452 Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. This leads to widespread problems including blood vessel abnormalities, a decreased response of the pupils to light, a weak bladder, and weakened contractions of the muscles used for the digestion of food (hypo peristalsis). A certain mutation in the ACTA2 gene has been shown to cause this condition insome individuals. multisystemic smooth muscle dysfunction syndrome congenital mydriasis, patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy multisystemic smooth muscle dysfunction syndrome https://rarediseases.info.nih.gov/diseases/12811/multisystemic-smooth-muscle-dysfunction-syndrome MONDO:0013453 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRB1 gene. https://github.com/monarch-initiative/mondo/issues/4069 CRB1 Leber congenital amaurosis LCA8 Leber congenital amaurosis 8 Leber congenital amaurosis caused by mutation in CRB1 Leber congenital amaurosis type 8 Leber congenital amaurosis 8 https://rarediseases.info.nih.gov/diseases/10881/leber-congenital-amaurosis-8 MONDO:0013454 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the IMPDH1 gene. https://github.com/monarch-initiative/mondo/issues/4069 IMPDH1 Leber congenital amaurosis LCA11 Leber congenital amaurosis 11 Leber congenital amaurosis caused by mutation in IMPDH1 Leber congenital amaurosis type 11 amaurosis congenita of Leber, type 11 Leber congenital amaurosis 11 https://rarediseases.info.nih.gov/diseases/10488/leber-congenital-amaurosis-11 MONDO:0013455 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYOZ2 gene. https://github.com/monarch-initiative/mondo/issues/4521 CMH16 MYOZ2 hypertrophic cardiomyopathy cardiomyopathy familial hypertrophic 16 cardiomyopathy, familial hypertrophic, type 16 cardiomyopathy, hypertrophic, 16 hypertrophic cardiomyopathy caused by mutation in MYOZ2 hypertrophic cardiomyopathy type 16 cardiomyopathy, familial hypertrophic, 16 hypertrophic cardiomyopathy 16 MONDO:0013456 DHFR deficiency dihydrofolate reductase deficiency megaloblastic anemia due to dihydrofolate reductase deficiency constitutional megaloblastic anemia with severe neurologic disease MONDO:0013457 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the TULP1 gene. LCA15 Leber congenital amaurosis 15 Leber congenital amaurosis caused by mutation in TULP1 Leber congenital amaurosis type 15 TULP1 Leber congenital amaurosis retinitis pigmentosa, juvenile, Tulp1-related Leber congenital amaurosis 15 https://rarediseases.info.nih.gov/diseases/10884/leber-congenital-amaurosis-15 MONDO:0013458 https://github.com/monarch-initiative/mondo/issues/4521 HUPRA syndrome hyperuricemia, pulmonary hypertension, renal failure, and alkalosis HUPRAS Hupra syndrome hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome MONDO:0013459 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINH1 gene. https://github.com/monarch-initiative/mondo/issues/4948 OI10 SERPINH1 osteogenesis imperfecta osteogenesis imperfecta caused by mutation in SERPINH1 osteogenesis imperfecta type X OI type 10 OI type X OI, type 10 osteogenesis imperfecta, type 10 osteogenesis imperfecta, type X osteogenesis imperfecta type 10 MONDO:0013460 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SP7 gene. https://github.com/monarch-initiative/mondo/issues/4948 OI12 SP7 osteogenesis imperfecta osteogenesis imperfecta caused by mutation in SP7 osteogenesis imperfecta type XII OI, type 12 osteogenesis imperfecta, type 12 osteogenesis imperfecta, type XII osteogenesis imperfecta type 12 MONDO:0013461 An inherited condition caused by mutation(s) in the ITPA gene, encoding inosine triphosphate pyrophosphatase. It is characterized by elevated concentrations of inosine triphosphate in erythrocytes. https://github.com/monarch-initiative/mondo/issues/4521 inosine triphosphatase deficiency inosine triphosphate pyrophosphohydrolase deficiency inosine triphosphatase deficiency MONDO:0013462 https://github.com/monarch-initiative/mondo/issues/4521 fucosyltransferase 6 deficiency fucosyltransferase 6 deficiency MONDO:0013463 Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the GDF1 gene. https://github.com/monarch-initiative/mondo/issues/5348 DTGA3 GDF1 dextro-looped transposition of the great arteries congenital heart defects, multiple types, 6 dextro-looped transposition of the great arteries 3 dextro-looped transposition of the great arteries caused by mutation in GDF1 dextro-looped transposition of the great arteries type 3 transposition of the great arteries, dextro-looped type 3 CHTD6 transposition of the great arteries, dextro-looped 3 transposition of the great arteries, dextro-looped 3, formerly congenital heart defects, multiple types, 6 MONDO:0013464 Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia characterized by recurrent episodes of vertigo and ataxia lasting several hours. CACNB4 hereditary episodic ataxia hereditary episodic ataxia caused by mutation in CACNB4 EA5 episodic ataxia, type 5 episodic ataxia type 5 MONDO:0013465 Any achromatopsia in which the cause of the disease is a mutation in the GNAT2 gene. https://github.com/monarch-initiative/mondo/issues/5693 ACHM4 GNAT2 achromatopsia achromatopsia 4 achromatopsia caused by mutation in GNAT2 achromatopsia type 4 achromatopsia 4 MONDO:0013466 OFC13 orofacial cleft 13 orofacial cleft 13 MONDO:0013467 Fcn3 deficiency ficolin 3 deficiency immunodeficiency due to ficolin 3 deficiency lectin complement activation pathway, defect in, 3 immunodeficiency due to ficolin3 deficiency MONDO:0013468 Any retinitis pigmentosa in which the cause of the disease is a mutation in the DHDDS gene. https://github.com/monarch-initiative/mondo/issues/4521 DHDDS retinitis pigmentosa RP59 congenital disorder of glycosylation, type 1bb retinitis pigmentosa 59 retinitis pigmentosa caused by mutation in DHDDS retinitis pigmentosa type 59 congenital disorder of glycosylation, type Ibb retinitis pigmentosa 59 MONDO:0013469 Any retinitis pigmentosa in which the cause of the disease is a mutation in the MERTK gene. https://github.com/monarch-initiative/mondo/issues/5693 MERTK retinitis pigmentosa RP38 retinitis pigmentosa 38 retinitis pigmentosa caused by mutation in MERTK retinitis pigmentosa type 38 Rod-cone dystrophy, childhood-onset retinitis pigmentosa 38 MONDO:0013470 Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the SCN9A gene. SCN9A generalized epilepsy with febrile seizures plus generalized epilepsy with febrile seizures plus caused by mutation in SCN9A generalized epilepsy with febrile seizures plus, type 7 GEFSP7 Gefs+, type 7 febrile seizures, familial, 3B generalized epilepsy with febrile seizures plus, type 7 MONDO:0013471 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SLC26A5 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB61 SLC26A5 autosomal recessive nonsyndromic deafness autosomal recessive deafness 61 autosomal recessive nonsyndromic deafness 61 autosomal recessive nonsyndromic deafness caused by mutation in SLC26A5 autosomal recessive nonsyndromic deafness type 61 deafness, autosomal recessive 61 deafness, autosomal recessive type 61 autosomal recessive nonsyndromic hearing loss 61 MONDO:0013472 alpha-B crystalin-related fatal infantile hypertonic myofibrillar myopathy fatal infantile hypertonic myofibrillar myopathy MFM, fatal infantile hypertonic, alpha-B crystallin-related myofibrillar myopathy type 7 myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related fatal infantile hypertonic myofibrillar myopathy MONDO:0013473 Hirschsprung disease, cardiac defects, and autonomic dysfunction HCAD Hirschsprung disease, CARDIAC defects, and autonomic dysfunction Hirschsprung disease, cardiac defects, and autonomic dysfunction MONDO:0013474 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the JPH2 gene. https://github.com/monarch-initiative/mondo/issues/4521 CMH17 JPH2 hypertrophic cardiomyopathy cardiomyopathy familial hypertrophic 17 cardiomyopathy, familial hypertrophic, type 17 cardiomyopathy, hypertrophic, 17 hypertrophic cardiomyopathy caused by mutation in JPH2 hypertrophic cardiomyopathy type 17 cardiomyopathy, familial hypertrophic, 17 hypertrophic cardiomyopathy 17 MONDO:0013475 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PLN gene. https://github.com/monarch-initiative/mondo/issues/4521 CMH18 PLN hypertrophic cardiomyopathy cardiomyopathy familial hypertrophic 18 cardiomyopathy, familial hypertrophic, type 18 cardiomyopathy, hypertrophic, 18 hypertrophic cardiomyopathy caused by mutation in PLN hypertrophic cardiomyopathy type 18 cardiomyopathy, familial hypertrophic, 18 hypertrophic cardiomyopathy 18 MONDO:0013476 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CALR3 gene. CALR3 hypertrophic cardiomyopathy CMH19 cardiomyopathy familial hypertrophic 19 cardiomyopathy, familial hypertrophic, type 19 hypertrophic cardiomyopathy caused by mutation in CALR3 hypertrophic cardiomyopathy type 19 cardiomyopathy, familial hypertrophic, 19 hypertrophic cardiomyopathy 19 MONDO:0013477 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene. https://github.com/monarch-initiative/mondo/issues/4521 CMH20 NEXN hypertrophic cardiomyopathy cardiomyopathy familial hypertrophic 20 cardiomyopathy, familial hypertrophic, type 20 cardiomyopathy, hypertrophic, 20 hypertrophic cardiomyopathy caused by mutation in NEXN hypertrophic cardiomyopathy type 20 cardiomyopathy, familial hypertrophic, 20 hypertrophic cardiomyopathy 20 MONDO:0013478 https://github.com/monarch-initiative/mondo/issues/5723 FPLD4 PLIN1-related FPLD FPLD due to PLIN1 mutations familial partial lipodystrophy associated with PLIN1 mutations familial partial lipodystrophy type 4 lipodystrophy, familial partial, associated with Plin1 mutations lipodystrophy, familial partial, type 4 PLIN1-related familial partial lipodystrophy MONDO:0013479 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the BAG3 gene. BAG3 familial isolated dilated cardiomyopathy CMD1HH cardiomyopathy, dilated, type 1Hh dilated cardiomyopathy type 1HH familial isolated dilated cardiomyopathy caused by mutation in BAG3 cardiomyopathy, dilated, 1HH dilated cardiomyopathy 1HH MONDO:0013480 HOMG6 renal hypomagnesemia type 6 hypomagnesemia 6, renal renal hypomagnesemia-6 renal hypomagnesemia 6 https://rarediseases.info.nih.gov/diseases/12155/renal-hypomagnesemia-6 MONDO:0013481 Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism. https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/4521 Del(13)(q14) chromosome 13q14 deletion syndrome chromosome 13q14 deletion syndrome, isolated cases del(13q14) deletion 13q14 monosomy type 13q14 chromosome 13Q deletion syndrome monosomy 13q14 chromosome 13q14 deletion syndrome MONDO:0013482 Any Meckel syndrome in which the cause of the disease is a mutation in the TCTN2 gene. MKS8 Meckel syndrome caused by mutation in TCTN2 Meckel syndrome, type 8 Meckel-Gruber syndrome, type 8 TCTN2 Meckel syndrome Meckel syndrome 8 Meckel syndrome, type 8 MONDO:0013483 obesity, hyperphagia, and developmental delay OBHD obesity, hyperphagia, and developmental delay MONDO:0013484 Any cataract in which the cause of the disease is a mutation in the TDRD7 gene. CATC4 CTRCT36 TDRD7 cataract (disease) autosomal recessive congenital cataract 4 cataract (disease) caused by mutation in TDRD7 cataract 36 cataract type 36 cataract, autosomal recessive congenital 4 cataract 36 MONDO:0013485 Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis. SCA35 spinocerebellar ataxia type 35 spinocerebellar ataxia 35 spinocerebellar ataxia type 35 MONDO:0013486 Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, cognitive impairment and azoospermia in males. SCA32 cerebellar ataxia with azoospermia and intellectual disability spinocerebellar ataxia 32 spinocerebellar ataxia type 32 MONDO:0013487 recurrent Neisseria infections due to factor D deficiency CFDD complement factor D deficiency factor D deficiency recurrent Neisseria infections due to factor D deficiency MONDO:0013488 APLDC3 lipodystrophy, partial, acquired, associated with C3 nephritic Factor lipodystrophy, partial, acquired, with LOW complement component C3, with or without glomerulonephritis lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis MONDO:0013489 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the KARS gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB89 KARS autosomal recessive nonsyndromic deafness autosomal recessive deafness 89 autosomal recessive nonsyndromic deafness 89 autosomal recessive nonsyndromic deafness caused by mutation in KARS autosomal recessive nonsyndromic deafness type 89 deafness, autosomal recessive 89 deafness, autosomal recessive type 89 autosomal recessive nonsyndromic hearing loss 89 MONDO:0013490 megalencephalic leukoencephalopathy with subcortical cysts 2A megalencephalic leukoencephalopathy with subcortical cysts type 2A MLC2A megalencephalic leukoencephalopathy with subcortical cysts 2A MONDO:0013491 megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation MLC2B megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability MONDO:0013492 APMR3 alopecia-intellectual disability syndrome 3 alopecia-mental retardation syndrome 3 alopecia-intellectual disability syndrome 3 MONDO:0013493 ACACAD ACETYL-CoA carboxylase deficiency Acaca deficiency Acc1 deficiency acetyl-coa carboxylase deficiency MONDO:0013495 Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the LIPN gene. https://github.com/monarch-initiative/mondo/issues/4069 ARCI8 autosomal recessive congenital ichthyosis type 8 ichthyosis, congenital, autosomal recessive type 8 lamellar ichthyosis 4 late-onset lamellar ichthyosis ichthyosis, congenital, autosomal recessive 8 ichthyosis, lamellar, 4 ichthyosis, lamellar, 4, formerly lamellar ichthyosis, late-onset autosomal recessive congenital ichthyosis 8 MONDO:0013496 https://github.com/monarch-initiative/mondo/issues/4882 IGAN2 IgA nephropathy, susceptibility to, 2 IgA nephropathy, susceptibility to, 2 MONDO:0013497 Okt4 epitope deficiency T4 epitope deficiency Okt4 epitope deficiency MONDO:0013498 A schizophrenia that has material basis in a mutation of SHANK3 on chromosome 22q13.33. SCZD15 schizophrenia 15 schizophrenia type 15 schizophrenia 15 with or without an affective disorder schizophrenia susceptibility locus, chromosome 22Q13-related schizophrenia 15 MONDO:0013499 Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene. FANCP Fanconi Anemia, complementation group type P Fanconi anemia caused by mutation in SLX4 Fanconi anemia caused by mutation in Slx4 Fanconi anemia complementation group type P SLX4 Fanconi anemia Slx4 Fanconi anemia Fanconi anemia, complementation group P Fanconi anemia complementation group P MONDO:0013500 immunodeficiency 51 CANDF5 IMD51 candidiasis, familial chronic mucocutaneous, autosomal recessive candidiasis, familial, 5 candidiasis, familial, 5, formerly candidiasis, familial, type 5 immunodeficiency 51 MONDO:0013501 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VCP gene. VCP amyotrophic lateral sclerosis amyotrophic lateral sclerosis caused by mutation in VCP amyotrophic lateral sclerosis, with or without frontotemporal dementia frontotemporal dementia and/or amyotrophic lateral sclerosis 6 MONDO:0013502 amyloidosis, primary localized cutaneous, 2 amyloidosis, primary localized cutaneous, type 2 PLCA2 amyloidosis, primary localized cutaneous, 2 MONDO:0013503 Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17F gene. https://github.com/monarch-initiative/mondo/issues/4521 IL17F familial chronic mucocutaneous candidiasis candidiasis, familial, 6 candidiasis, familial, 6, autosomal dominant candidiasis, familial, type 6 familial chronic mucocutaneous candidiasis caused by mutation in IL17F CANDF6 candidiasis, familial chronic mucocutaneous, autosomal dominant candidiasis, familial, 6 MONDO:0013504 Any azoospermia in which the cause of the disease is a mutation in the NR5A1 gene. NR5A1 azoospermia azoospermia caused by mutation in NR5A1 spermatogenic failure 8 spermatogenic failure type 8 SPGF8 spermatogenic failure 8 MONDO:0013505 Any azoospermia in which the cause of the disease is a mutation in the DPY19L2 gene. DPY19L2 azoospermia azoospermia caused by mutation in DPY19L2 spermatogenic failure 9 spermatogenic failure type 9 SPGF9 globozoospermia, complete globozoospermia, total spermatogenic failure 9 MONDO:0013506 A schizophrenia that has material basis in a mutation on chromosome 7q36.3. SCZD16 schizophrenia 16 schizophrenia type 16 chromosome 7Q36.3 Duplication syndrome, 362-Kb schizophrenia susceptibility locus, chromosome 7Q36.3-related schizophrenia 16 MONDO:0013507 https://github.com/monarch-initiative/mondo/issues/4521 chronic granulomatous disease 3, autosomal recessive granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 CDG3 CGD, autosomal recessive cytochrome B-positive, type 3 granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type III granulomatous disease, chronic, due to Ncf4 deficiency granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 MONDO:0013508 MYP19 myopia 19, autosomal dominant myopia 19, autosomal dominant MONDO:0013509 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN2B gene. https://github.com/monarch-initiative/mondo/issues/4521 GRIN2B autosomal dominant non-syndromic intellectual disability MRD6 autosomal dominant intellectual disability 6 autosomal dominant mental retardation 6 autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN2B intellectual developmental disorder, autosomal dominant 6, with or without seizures intellectual disability, autosomal dominant 6 intellectual disability, autosomal dominant type 6 mental retardation, autosomal dominant type 6 autosomal dominant non-syndromic intellectual disability 6 intellectual disability, autosomal dominant 6, with or without seizures mental retardation, autosomal dominant 6 mental retardation, autosomal dominant 6, with or without seizures intellectual disability, autosomal dominant 6 MONDO:0013510 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 melanoma, cutaneous malignant, 6 melanoma, cutaneous malignant, susceptibility to, 6 melanoma, cutaneous malignant, susceptibility to, type 6 CMM6 susceptibility to cutaneous malignant melanoma 6 melanoma, cutaneous malignant, susceptibility to, 6 MONDO:0013511 cyanosis, transient neonatal TNCY cyanosis, transient neonatal MONDO:0013512 Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia characterized by pronounced microcytic hypochromic hemolytic anemia. https://github.com/monarch-initiative/mondo/issues/4521 Alpha-thalassemia intermedia HbH HbH disease alpha thalassemia, hemoglobin H type alpha-thalassemia intermedia hemoglobin H disease hemoglobin H disease, deletional hemoglobin H disease, deletional and nondeletional Alpha-thalassemia, Hemoglobin H type HEMOGLOBIN H disease Hemoglobin H disease, Deletional Hemoglobin H disease, Nondeletional hemoglobin H disease MONDO:0013513 Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNJ2 gene. KCNJ2 familial atrial fibrillation atrial fibrillation, familial, 9 atrial fibrillation, familial, type 9 familial atrial fibrillation caused by mutation in KCNJ2 ATFB9 atrial fibrillation, familial, 9 MONDO:0013514 Any hypotrichosis in which the cause of the disease is a mutation in the KRT74 gene. Htss2 KRT74 hypotrichosis hypotrichosis 3 hypotrichosis caused by mutation in KRT74 hypotrichosis simplex of the scalp 2 hypotrichosis type 3 hypt3 HYPT3 hypotrichosis 3 MONDO:0013515 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINF1 gene. https://github.com/monarch-initiative/mondo/issues/4948 OI6 SERPINF1 osteogenesis imperfecta osteogenesis imperfecta caused by mutation in SERPINF1 osteogenesis imperfecta type VI OI type 6 OI type VI SERPINFI- related osteogenesis imperfecta osteogenesis imperfecta type osteogenesis imperfecta, type 6 osteogenesis imperfecta, type VI osteogenesis imperfecta type 6 MONDO:0013516 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF6 gene. PRPF6 retinitis pigmentosa RP60 retinitis pigmentosa 60 retinitis pigmentosa caused by mutation in PRPF6 retinitis pigmentosa type 60 retinitis pigmentosa 60 MONDO:0013517 Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype. https://github.com/monarch-initiative/mondo/issues/4521 thalassemia, beta thalassemia, hispanic gamma-delta-beta beta-thalassemia OMIM has the gene LCRB implicated in this disease but this gene does not exist in HGNC. It does exist in NCBI gene (HBB-LCR NCBIgene:109580095). beta-thalassemia HBB/LCRB MONDO:0013518 Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the OTX2 gene. OTX2 combined pituitary hormone deficiencies, genetic form combined pituitary hormone deficiencies, genetic form caused by mutation in OTX2 pituitary hormone deficiency, combined, 6 pituitary hormone deficiency, combined, type 6 CPHD6 pituitary hormone deficiency, combined, 6 MONDO:0013519 A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA2 on chromosome 5q35.3. DKCB2 dyskeratosis congenita, autosomal recessive 2 dyskeratosis congenita, autosomal recessive type 2 autosomal recessive dyskeratosis congenita 2 dyskeratosis congenita, autosomal recessive 2 MONDO:0013520 A dyskeratosis congenita that has material basis in an autosomal recessive mutation of WRAP53 on chromosome 17p13.1. DKCB3 dyskeratosis congenita, autosomal recessive 3 dyskeratosis congenita, autosomal recessive type 3 autosomal recessive dyskeratosis congenita 3 dyskeratosis congenita, autosomal recessive 3 MONDO:0013521 A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERT on chromosome 5p15.33. DKCA2 dyskeratosis congenita, autosomal dominant 2 dyskeratosis congenita, autosomal dominant type 2 autosomal dominant dyskeratosis congenita 2 dyskeratosis congenita, autosomal recessive 4 dyskeratosis congenita, autosomal dominant 2 MONDO:0013522 A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TINF2 on chromosome 14q12. DKCA3 dyskeratosis congenita, autosomal dominant 3 dyskeratosis congenita, autosomal dominant type 3 autosomal dominant dyskeratosis congenita 3 dyskeratosis congenita, autosomal dominant 3 MONDO:0013523 NGPS Nestor-Guillermo progeria syndrome PSCOO progeria syndrome, childhood-onset, with osteolysis Nestor-Guillermo progeria syndrome https://rarediseases.info.nih.gov/diseases/11008/nestor-guillermo-progeria-syndrome MONDO:0013524 BDPLT13 bleeding disorder, platelet-type, 13, susceptibility to bleeding disorder, susceptibility to, due to defective platelet thromboxane A2 receptor susceptibility to platelet-type bleeding disorder 13 bleeding diathesis due to thromboxane synthesis deficiency MONDO:0013525 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAL1 gene. CILD16 DNAL1 primary ciliary dyskinesia ciliary dyskinesia, primary, type 16 primary ciliary dyskinesia 16 with or without situs inversus primary ciliary dyskinesia caused by mutation in DNAL1 primary ciliary dyskinesia type 16 ciliary dyskinesia, primary, 16 ciliary dyskinesia, primary, 16, with or without situs inversus primary ciliary dyskinesia 16 MONDO:0013526 Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the GOSR2 gene. https://github.com/monarch-initiative/mondo/issues/4521 EPM6 GOSR2 progressive myoclonic epilepsy GOSR2-related progressive myoclonus ataxia North Sea progressive myoclonus epilepsy PME type 6 epilepsy, progressive myoclonic 6 epilepsy, progressive myoclonic, type 6 progressive myoclonic epilepsy caused by mutation in GOSR2 progressive myoclonus epilepsy type 6 epilepsy, progressive myoclonic, 6 progressive myoclonic epilepsy type 6 MONDO:0013527 Any lissencephaly in which the cause of the disease is a mutation in the NDE1 gene. https://github.com/monarch-initiative/mondo/issues/4521 NDE1 lissencephaly (disease) lissencephaly (disease) caused by mutation in NDE1 lissencephaly 4 lissencephaly 4 (with microcephaly) lissencephaly type 4 LIS4 lissencephaly 4 with microcephaly lissencephaly 4, with microcephaly lissencephaly 4 MONDO:0013528 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TECR gene. TECR autosomal recessive non-syndromic intellectual disability autosomal recessive non-syndromic intellectual disability caused by mutation in TECR intellectual disability, autosomal recessive 14 intellectual disability, autosomal recessive type 14 mental retardation, autosomal recessive type 14 MRT14 mental retardation, autosomal recessive 14 intellectual disability, autosomal recessive 14 MONDO:0013529 Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TECRL gene. CVPT3 TECRL catecholaminergic polymorphic ventricular tachycardia catecholaminergic polymorphic ventricular tachycardia 3 catecholaminergic polymorphic ventricular tachycardia caused by mutation in TECRL catecholaminergic polymorphic ventricular tachycardia type 3 CPVT3 ventricular tachycardia, catecholaminergic polymorphic, 3 catecholaminergic polymorphic ventricular tachycardia 3 MONDO:0013530 Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN5A gene. SCN5A familial atrial fibrillation atrial fibrillation, familial, 10 atrial fibrillation, familial, type 10 familial atrial fibrillation caused by mutation in SCN5A ATFB10 atrial fibrillation, familial, 10 MONDO:0013531 3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome. PSPH deficiency PSPHD phosphoserine phosphatase deficiency 3-phosphoserine phosphatase deficiency PSPH deficiency MONDO:0013532 https://github.com/monarch-initiative/mondo/issues/4521 protein Z deficiency protein z deficiency protein Z deficiency MONDO:0013533 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency is a rare, genetic hyperalphalipoproteinemia characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated. hyperlipidemia due to HL deficiency hyperlipidemia due to HTGL deficiency hyperlipidemia due to hepatic lipase deficiency HL deficiency hepatic lipase deficiency hyperlipidemia due to hepatic triacylglycerol lipase deficiency lipc deficiency hyperlipidemia due to hepatic triglyceride lipase deficiency MONDO:0013534 apolipoprotein c-III deficiency hyperalphalipoproteinemia 2 apolipoprotein c-III deficiency MONDO:0013535 https://github.com/monarch-initiative/mondo/issues/4521 glyoxalase II deficiency hydroxyacyl glutathione hydrolase deficiency glyoxalase 2 deficiency hydroxyacyl glutathione hydrolase deficiency MONDO:0013536 https://github.com/monarch-initiative/mondo/issues/4521 heme oxygenase 1 deficiency heme oxygenase-1 deficiency HMOX1D heme oxygenase 1 deficiency MONDO:0013537 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLDN14 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 CLDN14 autosomal recessive nonsyndromic deafness DFNB29 autosomal recessive deafness 29 autosomal recessive nonsyndromic deafness 29 autosomal recessive nonsyndromic deafness caused by mutation in CLDN14 autosomal recessive nonsyndromic deafness type 29 deafness, autosomal recessive 29 deafness, autosomal recessive type 29 autosomal recessive nonsyndromic hearing loss 29 MONDO:0013539 Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly. LTC4 synthase deficiency leukotriene C4 synthase deficiency hypotonia-failure to thrive-microcephaly syndrome MONDO:0013540 Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders. Emberger syndrome deafness-lymphedema-leukemia syndrome lymphedema, primary, with myelodysplasia deafness-lymphedema-leukemia syndrome https://rarediseases.info.nih.gov/diseases/13030/deafness-lymphedema-leukemia-syndrome MONDO:0013541 Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB3 gene. CDCBM1 TUBB3 complex cortical dysplasia with other brain malformations complex cortical dysplasia with other brain malformations caused by mutation in TUBB3 complex cortical dysplasia with other brain malformations type 1 cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation cortical dysplasia, Complex, with Other brain malformations type 1 cortical dysplasia, complex, with other brain malformations 1 complex cortical dysplasia with other brain malformations 1 MONDO:0013542 Any Moyamoya disease in which the cause of the disease is a mutation in the ACTA2 gene. ACTA2 Moyamoya disease Moyamoya disease 5 Moyamoya disease caused by mutation in ACTA2 Moyamoya disease type 5 MYMY5 Moyamoya disease 5 MONDO:0013543 trypsinogen deficiency trypsinogen deficiency MONDO:0013544 Any familial atrial fibrillation in which the cause of the disease is a mutation in the GJA5 gene. GJA5 familial atrial fibrillation atrial fibrillation, familial, 11 atrial fibrillation, familial, type 11 familial atrial fibrillation caused by mutation in GJA5 ATFB11 atrial fibrillation, familial, 11 MONDO:0013545 Any familial atrial fibrillation in which the cause of the disease is a mutation in the ABCC9 gene. ABCC9 familial atrial fibrillation atrial fibrillation, familial, 12 atrial fibrillation, familial, type 12 familial atrial fibrillation caused by mutation in ABCC9 ATFB12 atrial fibrillation, familial, 12 MONDO:0013546 A mitochondrial complex deficiency characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria. MC5DN2 mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency 3-MGCA type IV (3-MGCA-4) (formerly) TMEM70 defect TMEM70-related mitochondrial encephalo-cardio-myopathy encephalocardiomyopathy, mitochondrial, neonatal, due to ATP synthase deficiency mitochondrial Complex 5 (ATP synthase) deficiency, Tmem70 type mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 2 mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 MONDO:0013547 Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATP5F1E gene. ATP5F1E mitochondrial proton-transporting ATP synthase complex deficiency MC5DN3 mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATP5F1E mitochondrial Complex 5 (ATP synthase) deficiency, Atp5E type mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 3 mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 MONDO:0013548 https://github.com/monarch-initiative/mondo/issues/4521 ACAT2 deficiency, Isolated cases acetyl-CoA acetyltransferase-2 deficiency ACAT2 ACAT2D ACETYL-CoA acetyltransferase-2 deficiency Acat2 deficiency Acetocoenzyme A acetyltransferase 2 Acetyl CoA acetyltransferase 2 deficiency acetoacetyl CoA thiolase, cytosolic acetyl-CoA acetyltransferase-2 deficiency https://rarediseases.info.nih.gov/diseases/9154/acetyl-coa-acetyltransferase-2-deficiency MONDO:0013549 N-acetylaspartate deficiency NACED hypoacetylaspartia naa deficiency N-acetylaspartate deficiency MONDO:0013550 Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs. distal ABD-filaminopathy myopathy, distal, type 4 MPD4 Williams distal myopathy myopathy, distal, 4 distal myopathy with posterior leg and anterior hand involvement MONDO:0013551 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4B1 gene. AP4B1 hereditary spastic paraplegia CPSQ5 SPG47 autosomal recessive spastic paraplegia 47 hereditary spastic paraplegia 47 hereditary spastic paraplegia caused by mutation in AP4B1 hereditary spastic paraplegia type 47 spastic quadriplegic cerebral palsy 5 cerebral palsy, spastic quadriplegic, 5 cerebral palsy, spastic quadriplegic, 5, formerly spastic paraplegia 47, autosomal recessive hereditary spastic paraplegia 47 MONDO:0013552 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4S1 gene. AP4S1 hereditary spastic paraplegia CPSQ6 SPG52 autosomal recessive spastic paraplegia 52 hereditary spastic paraplegia 52 hereditary spastic paraplegia caused by mutation in AP4S1 hereditary spastic paraplegia type 52 spastic quadriplegic cerebral palsy 6 cerebral palsy, spastic quadriplegic, 6 cerebral palsy, spastic quadriplegic, 6, formerly spastic paraplegia 52, autosomal recessive hereditary spastic paraplegia 52 MONDO:0013553 Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the ZBTB24 gene. ICF syndrome 2 ZBTB24 immunodeficiency-centromeric instability-facial anomalies syndrome immunodeficiency-centromeric instability-Facial anomalies syndrome type 2 immunodeficiency-centromeric instability-facial anomalies syndrome 2 immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in ZBTB24 immunodeficiency-centromeric instability-facial anomalies syndrome type 2 ICF2 immunodeficiency-centromeric instability-facial anomalies syndrome 2 MONDO:0013554 Any psoriasis in which the cause of the disease is a mutation in the TRAF3IP2 gene. https://github.com/monarch-initiative/mondo/issues/4521 TRAF3IP2 psoriasis psoriasis 13, susceptibility to psoriasis caused by mutation in TRAF3IP2 psoriasis susceptibility 13 PSORS13 susceptibility to psoriasis 13 psoriasis 13, susceptibility to MONDO:0013555 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS3 gene. HPS3 Hermansky-Pudlak syndrome Hermansky-Pudlak syndrome 3 Hermansky-Pudlak syndrome caused by mutation in HPS3 Hermansky-Pudlak syndrome type 3 HPS3 Hermansky-Pudlak syndrome 3 MONDO:0013556 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS4 gene. HPS4 Hermansky-Pudlak syndrome Hermansky-Pudlak syndrome 4 Hermansky-Pudlak syndrome caused by mutation in HPS4 Hermansky-Pudlak syndrome type 4 HPS4 Hermansky-Pudlak syndrome 4 MONDO:0013557 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS5 gene. HPS5 Hermansky-Pudlak syndrome Hermansky-Pudlak syndrome 5 Hermansky-Pudlak syndrome caused by mutation in HPS5 Hermansky-Pudlak syndrome type 5 HPS5 Hermansky-Pudlak syndrome 5 MONDO:0013558 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS6 gene. HPS6 Hermansky-Pudlak syndrome Hermansky-Pudlak syndrome 6 Hermansky-Pudlak syndrome caused by mutation in HPS6 Hermansky-Pudlak syndrome type 6 HPS6 Hermansky-Pudlak syndrome 6 MONDO:0013559 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the DTNBP1 gene. DTNBP1 Hermansky-Pudlak syndrome HPS7 Hermansky-Pudlak syndrome 7 Hermansky-Pudlak syndrome caused by mutation in DTNBP1 Hermansky-Pudlak syndrome type 7 Hermansky-Pudlak syndrome 7 MONDO:0013560 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S3 gene. BLOC1S3 Hermansky-Pudlak syndrome HPS8 Hermansky-Pudlak syndrome 8 Hermansky-Pudlak syndrome caused by mutation in BLOC1S3 Hermansky-Pudlak syndrome type 8 Hermansky-Pudlak syndrome 8 MONDO:0013561 https://github.com/monarch-initiative/mondo/issues/4948 chondrodysplasia with joint dislocations, gPAPP type gPAPP deficiency chondrodysplasia with joint dislocations, gPAPP type MONDO:0013562 aspergillosis, susceptibility to susceptibility to aspergillosis aspergillosis, susceptibility to MONDO:0013563 Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGN gene. https://github.com/monarch-initiative/mondo/issues/4804 PIGN multiple congenital anomalies/dysmorphic syndrome-intellectual disability PIGN-CDG congenital disorder of glycosylation due to PIGN deficiency inherited GPI anchor-deficiency multiple congenital anomalies-hypotonia-seizures syndrome 1 multiple congenital anomalies-hypotonia-seizures syndrome type 1 multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGN MCAHS1 glycosylphosphatidylinositol biosynthesis defect 3 multiple congenital anomalies - hypotonia - seizures syndrome multiple congenital anomalies-hypotonia-seizures syndrome multiple congenital anomalies-hypotonia-seizures syndrome 1 MONDO:0013564 https://github.com/monarch-initiative/mondo/issues/4521 anhaptoglobinemia hypohaptoglobinemia AHP ANHAPTOGLOBINEMIA Ahaptoglobinemia anhaptoglobinemia MONDO:0013565 Fanconi anemia caused by mutations of the FANCG gene. FANCG Fanconi Anemia, complementation group type G Fanconi anemia complementation group G Fanconi anemia complementation group type G Fanconi anemia, complementation group G Fanconi anemia complementation group G MONDO:0013566 Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene. FANCL FANCL Fanconi anemia Fanconi Anemia, complementation group type 50 Fanconi anemia caused by mutation in FANCL Fanconi anemia complementation group L Fanconi anemia complementation group type L Fanconi Anemia, complementation Group 50 Fanconi anemia, complementation group L Fanconi anemia complementation group L MONDO:0013567 Any atrial heart septal defect in which the cause of the disease is a mutation in the MYH6 gene. ASD3 MYH6 atrial heart septal defect atrial heart septal defect caused by mutation in MYH6 atrial heart septal defect type 3 atrial septal defect 3 atrial septal defect type 3 atrial septal defect 3 MONDO:0013568 Any familial sick sinus syndrome in which the cause of the disease is a mutation in the MYH6 gene. https://github.com/monarch-initiative/mondo/issues/4521 MYH6 familial sick sinus syndrome familial sick sinus syndrome caused by mutation in MYH6 sick sinus syndrome 3 sick sinus syndrome 3, susceptibility to SSS3 susceptibility to sick sinus syndrome 3 sick sinus syndrome 3, susceptibility to MONDO:0013569 An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1. https://github.com/monarch-initiative/mondo/issues/4948 SRPS5 SRTD7 short rib-polydactyly syndrom type V short rib-polydactyly syndrome type 5 short rib-polydactyly syndrome, type 5 short-rib thoracic dysplasia 7 with or without polydactyly short-rib thoracic dysplasia 7 with or without polydactyly MONDO:0013570 Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement. AARS2 combined oxidative phosphorylation deficiency COXPD8 combined oxidative phosphorylation deficiency caused by mutation in AARS2 combined oxidative phosphorylation deficiency type 8 cardiomyopathy, hypertrophic mitochondrial, fatal infantile combined oxidative phosphorylation deficiency 8 combined oxidative phosphorylation defect type 8 MONDO:0013571 A congenital disorder resulting from a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide. https://github.com/monarch-initiative/mondo/issues/2632 acatalasemia acatalasia catalase deficiency deficiency of catalase acatalasia MONDO:0013572 Keppen-Lubinsky syndrome generalized lipodystrophy-progeroid features-severe intellectual disability syndrome KEPPEN-Lubinsky syndrome KPLBS Keppen-Lubinsky syndrome MONDO:0013573 Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT43 gene. Cranioectodermal dysplasia type 3 IFT43 cranioectodermal dysplasia cranioectodermal dysplasia 3 cranioectodermal dysplasia caused by mutation in IFT43 CED3 CRANIOECTODERMAL dysplasia 3 cranioectodermal dysplasia 3 MONDO:0013574 cutis laxa - Marfanoid syndrome cutis laxa, neonatal, with MARFANOID phenotype cutis laxa - Marfanoid syndrome MONDO:0013575 plasma fibronectin deficiency plasma fibronectin deficiency MONDO:0013576 Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections. https://github.com/monarch-initiative/mondo/issues/4521 IgG subclass deficiency with IgA subclass deficiency isolated IgG subclass deficiency kappa light chain deficiency kappa-chain deficiency recurrent infections associated with rare immunoglobulin isotypes deficiency IGKCD IMMUNOGLOBULIN kappa LIGHT chain deficiency kappa chain deficiency selective IgG subclass deficiency recurrent infections associated with rare immunoglobulin isotypes deficiency MONDO:0013577 Disorder of adipose tissue characterized by symmetric and bilateral enlargement of the lower extremities due to abnormal deposition of subcutaneous fat often in obese women. It is associated with hematoma, pain and may progress to secondary lymphedema which is known as lipolymphedema. Lipedema (disease) Lipedema (disease) lipedema Lipedema MONDO:0013578 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13. https://github.com/monarch-initiative/mondo/issues/5588 MRD7 autosomal dominant intellectual disability 7 autosomal dominant mental retardation 7 intellectual disability, autosomal dominant type 7 mental retardation, autosomal dominant type 7 autosomal dominant non-syndromic intellectual disability 7 intellectual disability, autosomal dominant 7 mental retardation, autosomal dominant 7 DYRK1A-related intellectual disability syndrome MONDO:0013579 https://github.com/monarch-initiative/mondo/issues/4985 developmental delay due to ALDH6A1 deficiency developmental delay due to MMSDH deficiency developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency methylmalonate semialdehyde dehydrogenase deficiency MMSDH deficiency MMSDHD methylmalonate semialdehyde dehydrogenase deficiency MONDO:0013580 Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by severe lactic acidosis, developmental delay and hypotonia. PDHBD pyruvate dehydrogenase E1-beta deficiency pyruvate dehydrogenase complex E1 component subunit beta deficiency pyruvate dehydrogenase E1-BETA deficiency pyruvate dehydrogenase E1-beta deficiency MONDO:0013581 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DOCK8 gene. DOCK8 autosomal dominant non-syndromic intellectual disability MRD2 autosomal dominant intellectual disability 2 autosomal dominant mental retardation 2 autosomal dominant non-syndromic intellectual disability caused by mutation in DOCK8 intellectual disability, autosomal dominant 2 intellectual disability, autosomal dominant type 2 mental retardation, autosomal dominant type 2 autosomal dominant non-syndromic intellectual disability 2 mental retardation, autosomal dominant 2 intellectual disability, autosomal dominant 2 MONDO:0013582 Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the CEP57 gene. CEP57 mosaic variegated aneuploidy syndrome Mosaic variegated aneuploidy syndrome type 2 mosaic variegated aneuploidy syndrome 2 mosaic variegated aneuploidy syndrome caused by mutation in CEP57 mosaic variegated aneuploidy syndrome type 2 MOSAIC variegated aneuploidy syndrome 2 MVA2 mosaic variegated aneuploidy syndrome 2 MONDO:0013583 occipital MCD occipital malformations of cortical development OCCM cortical malformations, occipital occipital pachygyria and polymicrogyria MONDO:0013584 A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has material basis in heterozygous mutation in the DNMT1 gene on chromosome 19p13. HSAN1E HSN1E hereditary sensory neuropathy type IE hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome DNMT1-related dementia, deafness, and sensory neuropathy HSN 1E HSNIE hereditary sensory and autonomic neuropathy type 1E hereditary sensory neuropathy type 1E hereditary sensory neuropathy with hearing loss and dementia neuropathy, hereditary sensory, type 1E neuropathy, hereditary sensory, type IE neuropathy, hereditary sensory, with hearing loss and dementia hereditary sensory neuropathy-deafness-dementia syndrome MONDO:0013585 Any hydrolethalus syndrome in which the cause of the disease is a mutation in the KIF7 gene. KIF7 hydrolethalus syndrome hydrolethalus syndrome 2 hydrolethalus syndrome caused by mutation in KIF7 hydrolethalus syndrome type 2 HLS2 hydrolethalus syndrome 2 MONDO:0013587 A condition that affects how the body breaks down sugar to use as energy in muscle cells. Unlike people with lactate dehydrogenase A deficiency, people with this condition typically do not have any signs or symptoms. It is unclear why this condition does not cause any health problems. Affected people are usually diagnosed when routine blood tests reveal reduced activity of the enzyme lactate dehydrogenase. LDHBD is caused by mutations in the LDHB gene and is inherited in an autosomal recessive manner. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4985 GSD due to lactate dehydrogenase H-subunit deficiency LDH-H subunit deficiency glycogenosis due to lactate dehydrogenase H-subunit deficiency lactate dehydrogenase B deficiency lactate dehydrogenase-B deficiency LDH deficiency B LDHBD lactate dehydrogenase deficiency type B glycogen storage disease due to lactate dehydrogenase H-subunit deficiency https://rarediseases.info.nih.gov/diseases/3161/lactate-dehydrogenase-b-deficiency MONDO:0013588 Any Perrault syndrome in which the cause of the disease is a mutation in the CLPP gene. CLPP Perrault syndrome Perrault syndrome 3 Perrault syndrome caused by mutation in CLPP Perrault syndrome type 3 PRLTS3 deafness, autosomal recessive 81 deafness, autosomal recessive 81, formerly based on OMIM phenotypic series 220290. Perrault syndrome 3 MONDO:0013589 Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the MYO1E gene. FSGS6 MYO1E focal segmental glomerulosclerosis focal segmental glomerulosclerosis 6 focal segmental glomerulosclerosis caused by mutation in MYO1E focal segmental glomerulosclerosis type 6 glomerulosclerosis, focal segmental, 6 focal segmental glomerulosclerosis 6 MONDO:0013590 Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A1 gene. https://github.com/monarch-initiative/mondo/issues/4948 COL9A1 autosomal recessive Stickler syndrome autosomal recessive Stickler syndrome caused by mutation in COL9A1 STICKLER syndrome, type IV STL4 Stickler syndrome, type 4 MONDO:0013591 Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A1 gene. https://github.com/monarch-initiative/mondo/issues/4948 COL9A1 multiple epiphyseal dysplasia (disease) epiphyseal dysplasia, multiple, 6 epiphyseal dysplasia, multiple, type 6 multiple epiphyseal dysplasia (disease) caused by mutation in COL9A1 EDM6 multiple epiphyseal dysplasia 6 epiphyseal dysplasia, multiple, 6 https://rarediseases.info.nih.gov/diseases/13376/multiple-epiphyseal-dysplasia-6 MONDO:0013592 https://github.com/monarch-initiative/mondo/issues/4069 nonsyndromic congenital nail disorder type 9 NDNC9 anonychia-onycholysis, isolated nail disorder, nonsyndromic congenital, 9 nail dysplasia onychodystrophy nonsyndromic congenital nail disorder 9 MONDO:0013593 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIABLO gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA64 DIABLO autosomal dominant nonsyndromic deafness autosomal dominant deafness 64 autosomal dominant nonsyndromic deafness 64 autosomal dominant nonsyndromic deafness caused by mutation in DIABLO autosomal dominant nonsyndromic deafness type 64 deafness, autosomal dominant 64 deafness, autosomal dominant type 64 autosomal dominant nonsyndromic hearing loss 64 MONDO:0013594 Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia. Asidan SCA36 spinocerebellar ataxia type 36 spinocerebellar ataxia 36 spinocerebellar ataxia type 36 MONDO:0013595 Hyperbiliverdinemia is a rare, genetic hepatic disease characterized by the presence of green coloration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported. green jaundice hyperbiliverdinemia HBLVD hyperbiliverdinemia MONDO:0013597 Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the TBXAS1 gene. BDPLT14 TBXAS1 inherited bleeding disorder, platelet-type inherited bleeding disorder, platelet-type caused by mutation in TBXAS1 thromboxane synthase deficiency bleeding disorder, platelet-type, 14 thromboxane synthetase deficiency platelet-type bleeding disorder 14 MONDO:0013598 Myostatin-related muscle hypertrophy is a rare condition characterized by reduced body fat and increased muscle size. Affected individuals have up to twice the usual amount of muscle mass in their bodies. They also tend to have increased muscle strength. This condition is not known to cause any medical problems, and affected individuals are intellectually normal. Myostatin-related muscle hypertrophy is caused by mutations in the MSTN gene. It follows an incomplete autosomal dominant pattern of inheritance. MSLHP muscle hypertrophy myostatin-related muscle hypertrophy https://rarediseases.info.nih.gov/diseases/10238/myostatin-related-muscle-hypertrophy MONDO:0013599 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia. https://github.com/monarch-initiative/mondo/issues/4521 immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant immunodeficiency type 31C CANDF7 IMD31C candidiasis familial chronic mucocutaneous, autosomal dominant candidiasis familial, 7 candidiasis, familial chronic mucocutaneous, autosomal dominant candidiasis, familial, 7 familial chronic mucocutaneous, autosomal dominant immunodeficiency 31C autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome MONDO:0013600 A sleep disorder characterized by difficulty in falling asleep and/or remaining asleep. insomnia (disease) insomnia insomnia (disease) DSPD DSPS delayed sleep phase disorder, susceptibility to delayed sleep phase syndrome, susceptibility to insomnia MONDO:0013601 https://github.com/monarch-initiative/mondo/issues/4521 gluthathione peroxidase deficiency hemolytic anemia due to glutathione peroxidase deficiency GPXD glutathione peroxidase deficiency gluthathione peroxidase deficiency MONDO:0013602 Any paraganglioma in which the cause of the disease is a mutation in the SDHA gene. SDHA paraganglioma paraganglioma caused by mutation in SDHA paragangliomas 5 paragangliomas type 5 PGL5 paragangliomas 5 MONDO:0013603 MYP20 myopia 20, autosomal dominant myopia 20, autosomal dominant MONDO:0013604 Any myopia (disease) in which the cause of the disease is a mutation in the ZNF644 gene. ZNF644 myopia (disease) myopia (disease) caused by mutation in ZNF644 myopia 21, autosomal dominant MYP21 myopia 21, autosomal dominant MONDO:0013605 Any brittle cornea syndrome in which the cause of the disease is a mutation in the PRDM5 gene. PRDM5 brittle cornea syndrome brittle cornea syndrome 2 brittle cornea syndrome caused by mutation in PRDM5 brittle cornea syndrome type 2 BCS2 brittle cornea syndrome 2 MONDO:0013606 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S6 gene. BLOC1S6 Hermansky-Pudlak syndrome HPS9 Hermansky-Pudlak syndrome 9 Hermansky-Pudlak syndrome caused by mutation in BLOC1S6 Hermansky-Pudlak syndrome type 9 Hermansky-Pudlak syndrome 9 MONDO:0013607 Dendritic cell, monocyte, B and NK lymphoid deficiency MonoMAC combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections immunodeficiency type 21 monocyte-B-natural killer-dendritic cell deficiency syndrome monocytopenia and mycobacterial infection syndrome DCML Dendritic cell, monocyte, B lymphocyte, and natural Killer lymphocyte deficiency GATA2 deficiency IMD21 combined immunodeficiency with susceptibility to mycobacterial, viral, and fungal infections immunodeficiency 21 monocyte - B - natural killer - dendritic cell deficiency monocytopenia with susceptibility to mycobacterial, fungal, and Papillomavirus infections and myelodysplasia monocytopenia with susceptibility to infections MONDO:0013608 Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN1 gene. JBTS13 Joubert syndrome 13 Joubert syndrome caused by mutation in TCTN1 Joubert syndrome type 13 TCTN1 Joubert syndrome Joubert syndrome 13 MONDO:0013609 Any Meckel syndrome in which the cause of the disease is a mutation in the B9D2 gene. https://github.com/monarch-initiative/mondo/issues/4521 B9D2 Meckel syndrome Meckel syndrome caused by mutation in B9D2 Meckel syndrome, type 10 meckel syndrome 10 JBTS34 Joubert syndrome 34 MKS10 Meckel syndrome, type 10 MONDO:0013610 Any retinitis pigmentosa in which the cause of the disease is a mutation in the CLRN1 gene. CLRN1 retinitis pigmentosa RP61 retinitis pigmentosa 61 retinitis pigmentosa caused by mutation in CLRN1 retinitis pigmentosa type 61 retinitis pigmentosa 61 MONDO:0013611 Any retinitis pigmentosa in which the cause of the disease is a mutation in the MAK gene. MAK retinitis pigmentosa RP62 retinitis pigmentosa 62 retinitis pigmentosa caused by mutation in MAK retinitis pigmentosa type 62 retinitis pigmentosa 62 MONDO:0013612 Any geleophysic dysplasia in which the cause of the disease is a mutation in the FBN1 gene. https://github.com/monarch-initiative/mondo/issues/4948 FBN1 geleophysic dysplasia Geleophysic dysplasia 2 Geleophysic dysplasia type 2 geleophysic dysplasia caused by mutation in FBN1 GELEOPHYSIC dysplasia 2 GPHYSD2 geleophysic dysplasia 2 MONDO:0013613 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the KCNJ13 gene. KCNJ13 Leber congenital amaurosis LCA16 Leber congenital amaurosis 16 Leber congenital amaurosis caused by mutation in KCNJ13 Leber congenital amaurosis type 16 Leber congenital amaurosis 16 https://rarediseases.info.nih.gov/diseases/10885/leber-congenital-amaurosis-16 MONDO:0013614 HPPD hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome hypertelorism, preauricular sinus, punctal pits, and deafness hypertelorism-preauricular sinus-punctual pits-deafness syndrome MONDO:0013615 Kreiborg-Pakistani syndrome craniosynostosis and dental anomalies CRSDA craniosynostosis-dental anomalies craniosynostosis and dental anomalies MONDO:0013616 Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE8B gene. PDE8B primary pigmented nodular adrenocortical disease pigmented nodular adrenocortical disease, primary, 3 pigmented nodular adrenocortical disease, primary, type 3 primary pigmented nodular adrenocortical disease caused by mutation in PDE8B Cushing syndrome, adrenal, due to PPNAD3 PPNAD3 pigmented nodular adrenocortical disease, primary, 3 MONDO:0013618 craniofacial anomalies and anterior segment dysgenesis syndrome CAASDS craniofacial anomalies and anterior segment dysgenesis syndrome MONDO:0013619 Any nephrotic syndrome in which the cause of the disease is a mutation in the PTPRO gene. PTPRO nephrotic syndrome nephrotic syndrome caused by mutation in PTPRO nephrotic syndrome, type 6 NPHS6 nephrotic syndrome, type 6 MONDO:0013620 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SCN4A gene. https://github.com/monarch-initiative/mondo/issues/4069 CMS16 SCN4A congenital myasthenic syndrome congenital myasthenic syndrome acetazolamide-responsive congenital myasthenic syndrome caused by mutation in SCN4A congenital myasthenic syndrome type 16 myasthenic syndrome, congenital, type 16 myasthenic syndrome, congenital, 16 myasthenic syndrome, congenital, Acetazolamide-responsive congenital myasthenic syndrome 16 MONDO:0013621 LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal. NPHS5 nephrotic syndrome, type 5, with or without ocular abnormalities LAMB2-related infantile-onset nephrotic syndrome MONDO:0013622 Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ITGA2 gene. BDPLT9 GP Ia deficiency ITGA2 inherited bleeding disorder, platelet-type collagen platelet receptor deficiency glycoprotein Ia deficiency inherited bleeding disorder, platelet-type caused by mutation in ITGA2 bleeding diathesis due to integrin alpha2-beta1 deficiency bleeding disorder, platelet-type, 9 platelet-type bleeding disorder 9 MONDO:0013623 Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the GP6 gene. BDPLT11 GP VI deficiency GP6 inherited bleeding disorder, platelet-type glycoprotein VI deficiency inherited bleeding disorder, platelet-type caused by mutation in GP6 platelet-type bleeding disorder 11 GP 6 deficiency bleeding diathesis due to glycoprotein VI deficiency bleeding disorder, platelet-type, 11 glycoprotein 6 deficiency platelet-type bleeding disorder-11 platelet-type bleeding disorder 11 MONDO:0013624 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MAN1B1 gene. CDG2U MAN1B1 autosomal recessive non-syndromic intellectual disability RAFQS autosomal recessive non-syndromic intellectual disability caused by mutation in MAN1B1 intellectual disability, autosomal recessive 15 mental retardation, autosomal recessive 15 mental retardation, autosomal recessive type 15 MRT15 Rafiq syndrome MONDO:0013625 Any Parkinson disease in which the cause of the disease is a mutation in the VPS35 gene. Parkinson disease 17 Parkinson disease caused by mutation in VPS35 Parkinson disease type 17 VPS35 Parkinson disease autosomal dominant Parkinson disease 17 PARK17 Parkinson's disease 17 Parkinson disease 17 MONDO:0013626 Any psoriasis in which the cause of the disease is a mutation in the IL36RN gene. https://github.com/monarch-initiative/mondo/issues/2829 https://github.com/monarch-initiative/mondo/issues/4496 palmoplantar pustulosis DITRA IL36RN psoriasis Interleukin 36 receptor antagonist deficiency PSORP PSORS14 acrodermatitis continua of Hallopeau acrodermatitis continua suppurativa of Hallopeau deficiency of IL-36R antagonist deficiency of IL-36Ra deficiency of the interleukin-36 receptor antagonist familial generalized pustular psoriasis psoriasis 14, pustular psoriasis caused by mutation in IL36RN GPP generalized pustular psoriasis psoriasis 14, pustular MONDO:0013627 Any 3-M syndrome in which the cause of the disease is a mutation in the CCDC8 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 3-M syndrome 3 3-M syndrome caused by mutation in CCDC8 3M syndrome 3 CCDC8 3-M syndrome three M syndrome 3 three M syndrome type 3 3M3 3M syndrome 3 MONDO:0013628 Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP2 gene. PGAP2 hyperphosphatasia-intellectual disability syndrome hyperphosphatasia with intellectual disability syndrome 3 hyperphosphatasia with intellectual disability syndrome type 3 hyperphosphatasia with mental retardation syndrome 3 hyperphosphatasia with mental retardation syndrome type 3 hyperphosphatasia-intellectual disability syndrome caused by mutation in PGAP2 HPMRS3 glycosylphosphatidylinositol biosynthesis defect 8 intellectual disability, autosomal recessive 17 intellectual disability, autosomal recessive 21 mental retardation, autosomal recessive 17 mental retardation, autosomal recessive 21 hyperphosphatasia with intellectual disability syndrome 3 MONDO:0013629 MRT16 intellectual disability, autosomal recessive 16 mental retardation, autosomal recessive 16 intellectual disability, autosomal recessive 16 MONDO:0013630 Any Meckel syndrome in which the cause of the disease is a mutation in the B9D1 gene. https://github.com/monarch-initiative/mondo/issues/4521 B9D1 Meckel syndrome Meckel syndrome caused by mutation in B9D1 Meckel syndrome, type 9 meckel syndrome 9 MKS9 Meckel syndrome, type 9 MONDO:0013631 https://github.com/monarch-initiative/mondo/issues/4882 LNCR5 lung cancer susceptibility 5 lung cancer susceptibility 5 MONDO:0013632 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 13q34. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA33 autosomal dominant deafness 33 autosomal dominant nonsyndromic deafness 33 autosomal dominant nonsyndromic deafness type 33 deafness, autosomal dominant 33 autosomal dominant nonsyndromic hearing loss 33 MONDO:0013633 Any encephalopathy, acute, infection-induced in which the cause of the disease is a mutation in the CPT2 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 CPT2 encephalopathy, acute, infection-induced encephalopathy, acute, infection-induced caused by mutation in CPT2 encephalopathy, acute, infection-induced, 4, susceptibility to encephalopathy, acute, infection-induced, susceptibility to, 4 encephalopathy, acute, infection-induced, susceptibility to, type 4 IIAE4 encephalopathy, acute, infection-induced, susceptibility to, 4 MONDO:0013634 Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the KIF1A gene. HSN2C KIF1A hereditary sensory and autonomic neuropathy type 2 hereditary sensory and autonomic neuropathy type 2 caused by mutation in KIF1A hereditary sensory neuropathy type IIC hereditary sensory neuropathy type 2C neuropathy, hereditary sensory, type IIC neuropathy, hereditary sensory, type 2C MONDO:0013635 Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DOCK6 gene. https://github.com/monarch-initiative/mondo/issues/4948 Adams-Oliver syndrome 2 Adams-Oliver syndrome caused by mutation in DOCK6 Adams-Oliver syndrome type 2 DOCK6 Adams-Oliver syndrome AOS2 Adams-Oliver syndrome 2 MONDO:0013636 PBC4 biliary cirrhosis, primary, 4 primary biliary cholangitis 4 MONDO:0013637 PBC5 biliary cirrhosis, primary, 5 primary biliary cholangitis 5 MONDO:0013638 Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB18 gene. RAB18 Warburg micro syndrome WARBM3 Warburg micro syndrome 3 Warburg micro syndrome caused by mutation in RAB18 Warburg micro syndrome type 3 micro syndrome 3 WARBURG micro syndrome 3 Warburg micro syndrome 3 MONDO:0013639 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 NRCLP6 narcolepsy 6, susceptibility to narcolepsy 6 narcolepsy 6, susceptibility to MONDO:0013640 Fram retinal arterial macroaneurysm and supravalvular pulmonic stenosis RAMSVPS retinal arterial macroaneurysm with supravalvular pulmonic stenosis familial retinal arterial macroaneurysm MONDO:0013641 Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP2 gene. RAB3GAP2 Warburg micro syndrome WARBM2 Warburg micro syndrome 2 Warburg micro syndrome caused by mutation in RAB3GAP2 Warburg micro syndrome type 2 micro syndrome 2 WARBURG micro syndrome 2 Warburg micro syndrome 2 MONDO:0013642 Any holoprosencephaly in which the cause of the disease is a mutation in the CDON gene. CDON holoprosencephaly HPE11 holoprosencephaly 11 holoprosencephaly caused by mutation in CDON holoprosencephaly type 11 holoprosencephaly 11 MONDO:0013643 HNFJ3 hyperuricemic nephropathy, familial juvenile, 3 hyperuricemic nephropathy, familial juvenile type 3 MONDO:0013644 Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the DYNC1H1 gene. https://github.com/monarch-initiative/mondo/issues/4521 CMT2O Charcot-Marie-Tooth disease caused by mutation in DYNC1H1 Charcot-Marie-Tooth disease, axonal, type 20 Charcot-Marie-Tooth neuropathy axonal type 2O DYNC1H1 Charcot-Marie-Tooth disease autosomal dominant Charcot-Marie-Tooth disease type 2O autosomal dominant axonal Charcot-Marie-Tooth disease type 2O Charcot-Marie-Tooth disease type 2O Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2O Charcot-Marie-Tooth disease, axonal, type 2O Charcot-Marie-Tooth neuropathy, axonal, type 2O Charcot-Marie-Tooth disease axonal type 2O MONDO:0013645 Any autosomal recessive syndromic cerebellar ataxia in which the cause of the disease is a mutation in the SYT14 gene. SCAR11 SYT14 autosomal recessive syndromic cerebellar ataxia autosomal recessive spinocerebellar ataxia 11 autosomal recessive spinocerebellar ataxia type 11 autosomal recessive syndromic cerebellar ataxia caused by mutation in SYT14 spinocerebellar ataxia, autosomal recessive type 11 autosomal recessive cerebellar ataxia-psychomotor retardation syndrome spinocerebellar ataxia, autosomal recessive 11 autosomal recessive spinocerebellar ataxia 11 MONDO:0013646 8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies. https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 8q21.11 microdeletion syndrome Del(8)(q21.11) chromosome 8q21.11 deletion syndrome chromosome 8q21.11 deletion syndrome, isolated cases deletion 8q21.11 monosomy 8q21.11 chromosome 8q21.11 deletion syndrome MONDO:0013648 Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjuctiva. No hypogmentation macules are observed and no systemic diseases are associated. melanosis diffusa congenita melanosis universalis hereditaria universal melanosis FPH1 Fph hyperpigmentation, familial progressive, 1 familial progressive hyperpigmentation MONDO:0013649 A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 10q11.23-q22.3. hypotrichosis 9 hypotrichosis type 9 hypt9 HYPT9 hypotrichosis 9 MONDO:0013650 A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 7p22.3-p21.3. hypotrichosis 10 hypotrichosis type 10 hypt10 HYPT10 hypotrichosis 10 MONDO:0013651 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MED23 gene. https://github.com/monarch-initiative/mondo/issues/4521 MED23 autosomal recessive non-syndromic intellectual disability autosomal recessive non-syndromic intellectual disability caused by mutation in MED23 intellectual developmental disorder, autosomal recessive 18, with or without epilepsy intellectual disability, autosomal recessive 18 intellectual disability, autosomal recessive type 18 mental retardation, autosomal recessive type 18 MED23 MRT18 autosomal recessive nonsyndromic intellectual disability-18 autosomal recessive nonsyndromic mental retardation-18 mental retardation, autosomal recessive 18 intellectual disability, autosomal recessive 18 MONDO:0013652 Any narcolepsy in which the cause of the disease is a mutation in the MOG gene. MOG narcolepsy narcolepsy 7 narcolepsy caused by mutation in MOG narcolepsy type 7 NRCLP7 narcolepsy 7 MONDO:0013653 Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the EIF4G1 gene. https://github.com/monarch-initiative/mondo/issues/4521 EIF4G1 hereditary late onset Parkinson disease Parkinson disease 18 Parkinson disease 18, autosomal dominant, susceptibility to hereditary late onset Parkinson disease caused by mutation in EIF4G1 PARK18 susceptibility to autosomal dominant Parkinson disease 18 Parkinson disease 18, autosomal dominant, susceptibility to MONDO:0013654 ANIB11 aneurysm, intracranial BERRY, 11 aneurysm, intracranial berry, 11 MONDO:0013655 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN1 gene. GRIN1 autosomal dominant non-syndromic intellectual disability MRD8 autosomal dominant intellectual disability 8 autosomal dominant mental retardation 8 autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN1 intellectual disability, autosomal dominant 8 intellectual disability, autosomal dominant type 8 mental retardation, autosomal dominant type 8 NDHMSD autosomal dominant non-syndromic intellectual disability 8 intellectual disability, autosomal dominant 8, formerly mental retardation, autosomal dominant 8 mental retardation, autosomal dominant 8, formerly neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant intellectual disability, autosomal dominant 8 MONDO:0013656 An autosomal dominant condition caused by mutation(s) in the KIF1A gene, encoding kinesin-like protein KIF1A. It is characterized by microcephaly, intellectual disability, and delayed psychomotor development. The condition is progressive, occurs in early infancy, and is of variable severity. https://github.com/monarch-initiative/mondo/issues/4521 KIF1A autosomal dominant non-syndromic intellectual disability MRD9 NESCAV syndrome autosomal dominant intellectual disability 9 autosomal dominant mental retardation 9 autosomal dominant non-syndromic intellectual disability caused by mutation in KIF1A intellectual disability, autosomal dominant 9 intellectual disability, autosomal dominant type 9 mental retardation, autosomal dominant type 9 autosomal dominant non-syndromic intellectual disability 9 mental retardation, autosomal dominant 9 intellectual disability, autosomal dominant 9 MONDO:0013657 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CACNG2 gene. CACNG2 autosomal dominant non-syndromic intellectual disability MRD10 autosomal dominant intellectual disability 10 autosomal dominant mental retardation 10 autosomal dominant non-syndromic intellectual disability caused by mutation in CACNG2 intellectual disability, autosomal dominant 10 intellectual disability, autosomal dominant type 10 mental retardation, autosomal dominant type 10 autosomal dominant non-syndromic intellectual disability 10 mental retardation, autosomal dominant 10 intellectual disability, autosomal dominant 10 MONDO:0013658 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EPB41L1 gene. https://github.com/monarch-initiative/mondo/issues/4521 EPB41L1 autosomal dominant non-syndromic intellectual disability MRD11 autosomal dominant intellectual disability 11 autosomal dominant mental retardation 11 autosomal dominant non-syndromic intellectual disability caused by mutation in EPB41L1 intellectual developmental disorder, autosomal dominant 11 intellectual disability, autosomal dominant 11 intellectual disability, autosomal dominant type 11 mental retardation, autosomal dominant type 11 autosomal dominant non-syndromic intellectual disability 11 mental retardation, autosomal dominant 11 intellectual disability, autosomal dominant 11 MONDO:0013659 MIC-CAP syndrome MIC-CM syndrome microcephaly-capillary malformation syndrome microcephaly-cutaneous capillary malformation syndrome MICCAP microcephaly-capillary malformation syndrome MONDO:0013660 arthrogryposis, Perthes disease, and upward gaze palsy APUG arthrogryposis, Perthes disease, and upward gaze palsy MONDO:0013661 Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline. CMAMMA combined malonic and methylmalonic acidemia combined malonic and methylmalonic aciduria combined malonic and methylmalonic acidemia MONDO:0013662 Esophageal lesion lined with columnar metaplastic epithelium which is flat or villiform. Barrett epithelium is characterized by two different types of cells: goblet cells and columnar cells. The symptomatology of Barrett esophagus is that of gastro-esophageal reflux. It is the precursor of most esophageal adenocarcinomas. (WHO) https://github.com/monarch-initiative/mondo/issues/4521 BE Barrett esophagus Barrett esophagus/esophageal adenocarcinoma Barrett's esophagus Barrett's esophagus with esophagitis Barrett's oesophagus Barrett's ulcer of esophagus Barretts syndrome CLE cello columnar epithelial-lined Lower esophagus columnar-lined esophagus ulcerative esophagitis Barrett metaplasia adenocarcinoma of esophagus Barrett esophagus MONDO:0013663 platelet-activating factor acetylhydrolase deficiency (disease) platelet-activating factor acetylhydrolase deficiency platelet-activating factor acetylhydrolase deficiency (disease) PAFAD platelet-activating factor acetylhydrolase deficiency MONDO:0013664 https://github.com/monarch-initiative/mondo/issues/4521 46,XY sex reversal type 8 46XY sex reversal 8 46XY sex reversal 8, modifier of 46,XY sex reversal 8 SRXY8 male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency MONDO:0013665 EJM9 epilepsy, juvenile myoclonic, susceptibility to, 9 epilepsy, juvenile myoclonic, susceptibility to, 9 MONDO:0013666 Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A2 gene. https://github.com/monarch-initiative/mondo/issues/4948 COL9A2 autosomal recessive Stickler syndrome autosomal recessive Stickler syndrome caused by mutation in COL9A2 STICKLER syndrome, type V STL5 Stickler syndrome, type 5 MONDO:0013668 Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations. https://github.com/monarch-initiative/mondo/issues/3492 Isochromosome 18p tetrasomy 18p tetrasomy type 18P tetrasomy type 18p Isochromosome 18P syndrome chromosome 18p tetrasomy tetrasomy chromosome 18p tetrasomy 18p MONDO:0013669 Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51D gene. RAD51D hereditary breast ovarian cancer syndrome breast-ovarian cancer, familial, susceptibility to, 4 breast-ovarian cancer, familial, susceptibility to, type 4 hereditary breast ovarian cancer syndrome caused by mutation in RAD51D BROVCA4 susceptibility to familial breast-ovarian cancer 4 breast-ovarian cancer, familial, susceptibility to, 4 MONDO:0013670 myopia, high, with cataract and vitreoretinal degeneration MCVD myopia, high, with cataract and vitreoretinal degeneration MONDO:0013671 Any complete hydatidiform mole in which the cause of the disease is a mutation in the KHDC3L gene. KHDC3L complete hydatidiform mole complete hydatidiform mole caused by mutation in KHDC3L hydatidiform Mole, recurrent, type 2 hydatidiform mole, recurrent, 2 HYDM2 hydatidiform MOLE, recurrent, 2 hydatidiform Mole, complete hydatidiform mole, recurrent, 2 MONDO:0013672 https://github.com/monarch-initiative/mondo/issues/3664 chromosome 15q25 deletion syndrome chromosome 15q25 deletion syndrome MONDO:0013673 Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings. Wolfram-like syndrome WFSL Wolfram-like syndrome, autosomal dominant hearing loss, progressive, with optic atrophy and/or impaired glucose Regulation Wolfram-like syndrome MONDO:0013674 Mitochondrial membrane protein-sssociated neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities. C19orf12 neurodegeneration with brain iron accumulation MPAN NBIA due to C19orf12 mutation NBIA4 mitochondrial Protein-associated neurodegeneration neurodegeneration with brain iron accumulation 4 neurodegeneration with brain iron accumulation caused by mutation in C19orf12 neurodegeneration with brain iron accumulation due to C19orf12 mutation neurodegeneration with brain iron accumulation type 4 mitochondrial membrane protein-associated neurodegeneration neurodegeneration with brain iron accumulation 4 MONDO:0013675 Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the BOLA3 gene. BOLA3 deficiency BOLA3 fatal multiple mitochondrial dysfunctions syndrome fatal multiple mitochondrial dysfunctions syndrome caused by mutation in BOLA3 multiple mitochondrial dysfunctions syndrome 2 multiple mitochondrial dysfunctions syndrome type 2 MMDS2 multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia multiple mitochondrial dysfunctions syndrome 2 MONDO:0013677 Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the TMEM43 gene. https://github.com/monarch-initiative/mondo/issues/4521 Emery-Dreifuss muscular dystrophy 7, autosomal dominant TMEM43 autosomal dominant Emery-Dreifuss muscular dystrophy autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in TMEM43 EDMD7 EMERY-Dreifuss muscular dystrophy 7, autosomal dominant Ehlers-Danlos syndrome, classic-like, 1 Emery-Dreifuss muscular dystrophy 7, autosomal dominant MONDO:0013678 EDICT (endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning) syndrome is a very rare eye disorder representing a constellation of autosomal dominantly inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia. EDICT syndrome KTCNCT autosomal dominant keratoconus with early-onset anterior polar cataracts endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome familial keratoconus with cataract EDICT endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning syndrome keratoconus with cataract keratoconus, familial, with early-onset anterior polar cataract EDICT syndrome MONDO:0013679 Any sclerosteosis in which the cause of the disease is a mutation in the LRP4 gene. https://github.com/monarch-initiative/mondo/issues/4948 LRP4 sclerosteosis SOST2 sclerosteosis 2 sclerosteosis caused by mutation in LRP4 sclerosteosis type 2 sclerosteosis 2 MONDO:0013680 cognitive impairment with or without cerebellar ataxia CIAT cognitive impairment with or without cerebellar ataxia MONDO:0013681 A rare disorder caused by mutation in the AMACR gene. Racemization is the prerequisite to beta-oxidation for branched chain fatty acids and bile acids. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy. AMACR deficiency rarely presents as liver disease in infancy. AMACR AMACR deficiency alpha-methylacyl-CoA racemase deficiency AMACRD alpha-methylacyl-CoA racemase deficiency MONDO:0013682 VUR4 vesicoureteral reflux 4 vesicoureteral reflux 4 MONDO:0013683 VUR5 vesicoureteral reflux 5 vesicoureteral reflux 5 MONDO:0013684 VUR6 vesicoureteral reflux 6 vesicoureteral reflux 6 MONDO:0013685 Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA1 gene. BRCA1 familial pancreatic carcinoma familial pancreatic carcinoma caused by mutation in BRCA1 pancreatic cancer, susceptibility to, 4 pancreatic cancer, susceptibility to, type 4 PNCA4 susceptibility to pancreatic cancer 4 pancreatic cancer, susceptibility to, 4 MONDO:0013686 Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability. MPDT myopathy, distal, Tateyama type distal myopathy, Tateyama type MONDO:0013687 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency is a rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI. SCAR12 WWOX autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome WWOX autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in WWOX autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in WWOX autosomal recessive spinocerebellar ataxia 12 autosomal recessive spinocerebellar ataxia type 12 spinocerebellar ataxia, autosomal recessive type 12 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to WWOX deficiency spinocerebellar ataxia with intellectual disability and epilepsy spinocerebellar ataxia with mental retardation and epilepsy spinocerebellar ataxia, autosomal recessive 12 autosomal recessive spinocerebellar ataxia 12 MONDO:0013688 Linear and whorled nevoid hypermelanosis (LWNH) is a rare skin condition characterized by swirling streaks of hyperpigmented (darkened) skin. The pigmentation follows the lines of Blashko and is mainly located on the trunk and limbs. It is present at birth or appears in the first few weeks of life. It typically progresses for one to two years and then stabilizes. Hyperpigmentation is usually the only symptom but there are isolated reports of other symptoms, involving mostly the central nervous system, musculoskeletal system, and heart. While most cases of LWNH are sporadic, apparent genetic transmission rarely has been described. A few people with LWNH have been diagnosed with chromosomal mosaicism. Becker Nevus Becker's Nevus linear papular ectodermal-mesodermal hamartoma melanosis Neviformis pigmented hairy Epidermal Nevus pigmented hairy Nevus of Becker progressive cribriform and zosteriform hyperpigmentation LWNH hyperpigmentation, progressive cribriform and zosteriform linear and whorled hypermelanosis nevoid hypermelanosis, linear and whorled reticulate hyperpigmentation of Iijima zebra-like hyperpigmentation zosteriform hyperpigmentation zosteriform lentiginous nevus linear and whorled nevoid hypermelanosis https://rarediseases.info.nih.gov/diseases/11004/linear-and-whorled-nevoid-hypermelanosis MONDO:0013689 Any 46 XX gonadal dysgenesis in which the cause of the disease is a mutation in the PSMC3IP gene. 46 XX gonadal dysgenesis caused by mutation in PSMC3IP PSMC3IP 46 XX gonadal dysgenesis ovarian dysgenesis 3 ovarian dysgenesis type 3 ODG3 ovarian dysgenesis 3 MONDO:0013690 Any Pitt-Hopkins-like syndrome in which the cause of the disease is a mutation in the NRXN1 gene. NRXN1 Pitt-Hopkins-like syndrome Pitt-Hopkins-like syndrome 2 Pitt-Hopkins-like syndrome caused by mutation in NRXN1 Pitt-Hopkins-like syndrome type 2 PTHSL2 Pitt-Hopkins-like syndrome 2 MONDO:0013691 Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures. Brunner-Winter syndrome type 2 FGLDS2 FS2 Feingold syndrome type 2 MMT type 2 brachydactyly-short stature-microcephaly syndrome microcephaly-digital anomalies-normal intelligence syndrome type 2 microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2 Feingold syndrome 2 brachydactyly with short stature and microcephaly Feingold syndrome type 2 MONDO:0013692 BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape. BAP1-related tumor predisposition syndrome tumor susceptibility linked to germline BAP1 mutations BAP1 tumor predisposition syndrome TPDS tumor predisposition syndrome BAP1-related tumor predisposition syndrome MONDO:0013693 Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the ADAM17 gene. ADAM17 neonatal inflammatory skin and bowel disease inflammatory skin and bowel disease, neonatal, 1 inflammatory skin and bowel disease, neonatal, type 1 neonatal inflammatory skin and bowel disease caused by mutation in ADAM17 NISBD1 inflammatory skin and bowel disease, neonatal, 1 MONDO:0013694 MRT31 intellectual disability, autosomal recessive 31 mental retardation, autosomal recessive 31 intellectual disability, autosomal recessive 31 MONDO:0013695 Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the TGFBR2 gene. TGFBR2 hereditary nonpolyposis colon cancer colorectal cancer, hereditary nonpolyposis, type 6 hereditary nonpolyposis colon cancer caused by mutation in TGFBR2 HNPCC6 colon cancer, hereditary nonpolyposis, type 6 colorectal cancer, hereditary nonpolyposis, type 6 MONDO:0013696 https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/4521 chromosome 2P16.3 deletion syndrome schizophrenia, susceptibility to, 17 chromosome 2p16.3 deletion syndrome MONDO:0013697 MRT29 intellectual disability, autosomal recessive 29 mental retardation, autosomal recessive 29 intellectual disability, autosomal recessive 29 MONDO:0013698 arthrogryposis, distal, type 1B DA1B arthrogryposis, distal, type 1B MONDO:0013699 Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the PMS2 gene. https://github.com/monarch-initiative/mondo/issues/5666 PMS2 hereditary nonpolyposis colon cancer colorectal cancer, hereditary nonpolyposis, type 4 hereditary nonpolyposis colon cancer caused by mutation in PMS2 HNPCC4 Lynch syndrome 4 MONDO:0013700 An autosomal recessive disorder caused by mutation(s) in the PNLIP gene, encoding pancreatic triacylglycerol lipase. The condition is characterized by absent or reduced pancreatic lipase. pancreatic triglyceride lipase deficiency PL deficiency PNLIPD colipase, congenital absence of pancreatic lipase and colipase, congenital absence of pancreatic lipase and colipase, deficiency of lipase, congenital absence of pancreatic pancreatic colipase deficiency pancreatic lipase deficiency pancreatic triacylglycerol lipase deficiency MONDO:0013702 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LINS1 gene. https://github.com/monarch-initiative/mondo/issues/4521 LINS1 autosomal recessive non-syndromic intellectual disability autosomal recessive non-syndromic intellectual disability caused by mutation in LINS1 intellectual developmental disorder, autosomal recessive 27 intellectual disability, autosomal recessive 27 intellectual disability, autosomal recessive type 27 mental retardation, autosomal recessive type 27 MRT27 mental retardation, autosomal recessive 27 intellectual disability, autosomal recessive 27 MONDO:0013703 MRT33 intellectual disability, autosomal recessive 33 mental retardation, autosomal recessive 33 intellectual disability, autosomal recessive 33 MONDO:0013704 MRT30 intellectual disability, autosomal recessive 30 mental retardation, autosomal recessive 30 intellectual disability, autosomal recessive 30 MONDO:0013705 MRT19 intellectual disability, autosomal recessive 19 mental retardation, autosomal recessive 19 intellectual disability, autosomal recessive 19 MONDO:0013706 MRT23 intellectual disability, autosomal recessive 23 mental retardation, autosomal recessive 23 intellectual disability, autosomal recessive 23 MONDO:0013707 MRT24 intellectual disability, autosomal recessive 24 mental retardation, autosomal recessive 24 intellectual disability, autosomal recessive 24 MONDO:0013708 MRT25 intellectual disability, autosomal recessive 25 mental retardation, autosomal recessive 25 intellectual disability, autosomal recessive 25 MONDO:0013709 MRT28 intellectual disability, autosomal recessive 28 mental retardation, autosomal recessive 28 intellectual disability, autosomal recessive 28 MONDO:0013710 Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MSH6 gene. https://github.com/monarch-initiative/mondo/issues/5666 MSH6 hereditary nonpolyposis colon cancer colorectal cancer, hereditary nonpolyposis, type 5 hereditary nonpolyposis colon cancer caused by mutation in MSH6 HNPCC5 Lynch syndrome 5 MONDO:0013711 peripheral neuropathy-myopathy-hoarseness-deafness syndrome PNMHH peripheral neuropathy, myopathy, hoarseness, and hearing loss peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome MONDO:0013712 Any hereditary pulmonary alveolar proteinosis in which the cause of the disease is a mutation in the CSF2RB gene. CSF2RB hereditary pulmonary alveolar proteinosis hereditary pulmonary alveolar proteinosis caused by mutation in CSF2RB surfactant metabolism dysfunction, pulmonary, 5 surfactant metabolism dysfunction, pulmonary, type 5 Csf2Rb deficiency Pap due to Csf2Rb deficiency SMDP5 pulmonary alveolar proteinosis 5 surfactant metabolism dysfunction, pulmonary, 5 MONDO:0013713 dengue virus, susceptibility to Dengue fever, protection against Dengue fever, susceptibility to Dengue hemorrhagic fever, susceptibility to Dengue shock syndrome, susceptibility to susceptibility to dengue virus dengue virus, susceptibility to MONDO:0013714 https://github.com/monarch-initiative/mondo/issues/4521 mannose-binding lectin deficiency mannose-binding protein deficiency MBL deficiency MBL2 deficiency MBLD MBP deficiency lectin complement activation pathway, defect in, 1 mannose-binding lectin deficiency MONDO:0013715 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SIGMAR1 gene. ALS16 SIGMAR1 amyotrophic lateral sclerosis amyotrophic lateral sclerosis 16 amyotrophic lateral sclerosis caused by mutation in SIGMAR1 amyotrophic lateral sclerosis 16, juvenile amyotrophic lateral sclerosis type 16 MONDO:0013716 AAA4 aortic aneurysm, familial abdominal, 4 aortic aneurysm, familial abdominal, 4 MONDO:0013717 Any Jeune syndrome in which the cause of the disease is a mutation in the WDR19 gene. ATD5 Jeune syndrome caused by mutation in WDR19 SRTD5 WDR19 Jeune syndrome asphyxiating thoracic dystrophy 5 asphyxiating thoracic dystrophy type 5 short-rib thoracic dysplasia 5 with or without polydactyly asphyxiating thoracic dystrophy 5 MONDO:0013718 A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14. NPHP13 nephronophthisis 13 nephronophthisis type 13 nephronophthisis 13 MONDO:0013719 cranioectodermal dysplasia 4 cranioectodermal dysplasia type 4 CED4 cranioectodermal dysplasia 4 MONDO:0013720 Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4B gene. C4B classic complement early component deficiency classic complement early component deficiency caused by mutation in C4B complement component 4b deficiency C4B deficiency C4BD complement component 4B deficiency complement component 4b deficiency MONDO:0013721 Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4A gene. C4A classic complement early component deficiency classic complement early component deficiency caused by mutation in C4A complement component 4a deficiency C4A deficiency C4AD complement component 4A deficiency complement component 4a deficiency MONDO:0013722 Any leukodystrophy in which the cause of the disease is a mutation in the POLR3B gene. https://github.com/monarch-initiative/mondo/issues/4516 https://github.com/monarch-initiative/mondo/issues/4948 HLD8 POLR3B leukodystrophy endosteal sclerosis-cerebellar hypoplasia syndrome leukodystrophy caused by mutation in POLR3B cerebellar hypoplasia with endosteal sclerosis leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism MONDO:0013723 Any bacteremia, susceptibility in which the cause of the disease is a mutation in the TIRAP gene. https://github.com/monarch-initiative/mondo/issues/4521 TIRAP bacteremia, susceptibility bacteremia, protection against bacteremia, susceptibility caused by mutation in TIRAP bacteremia, susceptibility to, 1 bacteremia, susceptibility to, type 1 BACTS1 bacteremia, resistance to bacteremia, susceptibility to, 1 MONDO:0013724 Any bacteremia, susceptibility in which the cause of the disease is a mutation in the CISH gene. https://github.com/monarch-initiative/mondo/issues/4521 CISH bacteremia, susceptibility bacteremia, susceptibility caused by mutation in CISH bacteremia, susceptibility to bacteremia, susceptibility to, 2 bacteremia, susceptibility to, type 2 BACTS2 bacteremia, susceptibility to, 2 MONDO:0013725 Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH3 gene. MLH3 hereditary nonpolyposis colon cancer colorectal cancer, hereditary nonpolyposis, type 7 hereditary nonpolyposis colon cancer caused by mutation in MLH3 HNPCC7 colorectal cancer, hereditary nonpolyposis, type 7 MONDO:0013726 https://github.com/monarch-initiative/mondo/issues/5671 DNM1L-associated encephalopathy due to peroxisomal and mitochondrial fission defect encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 lethal encephalopathy due to mitochondrial and peroxisomal fission defect EMPF EMPF1 encephalopathy due to defective mitochondrial and peroxisomal fission 1 encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 MONDO:0013727 Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the F5 gene. F5 pregnancy loss, recurrent, susceptibility pregnancy loss, recurrent, susceptibility caused by mutation in F5 pregnancy loss, recurrent, susceptibility to, 1 pregnancy loss, recurrent, susceptibility to, type 1 RPRGL1 Rpl Rprgl abortion, spontaneous, recurrent embryonic loss, recurrent fetal loss, recurrent, susceptibility to miscarriage, recurrent stillbirth, recurrent pregnancy loss, recurrent, susceptibility to, 1 MONDO:0013728 Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the F2 gene. F2 pregnancy loss, recurrent, susceptibility pregnancy loss, recurrent, susceptibility caused by mutation in F2 pregnancy loss, recurrent, susceptibility to, 2 pregnancy loss, recurrent, susceptibility to, type 2 RPRGL2 pregnancy loss, recurrent, susceptibility to, 2 MONDO:0013729 Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the ANXA5 gene. ANXA5 pregnancy loss, recurrent, susceptibility pregnancy loss, recurrent, susceptibility caused by mutation in ANXA5 pregnancy loss, recurrent, susceptibility to, 3 pregnancy loss, recurrent, susceptibility to, type 3 RPRGL3 pregnancy loss, recurrent, susceptibility to, 3 MONDO:0013730 An immune system disorder that occurs after allogeneic hematopoietic stem cell transplant and is a reaction of donor immune cells against host tissues. Activated donor T cells damage host epithelial cells after an inflammatory cascade that begins with the preparative regimen. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5493 GVH GVHD disease, graft-versus-host disease, graft-vs-host diseases, graft-versus-host diseases, graft-vs-host graft versus host disease graft vs host disease graft vs. host disease graft-versus-host disease graft-versus-host-disease graft-vs-host disease runt disease disease, homologous wasting disease, runt graft-VS-host diseases graft-versus-host disease, resistance to graft-versus-host disease, susceptibility to graft-versus-host diseases homologous wasting disease graft versus host disease MONDO:0013731 A congenital myopathy caused by mutations in the multiple epidermal growth factor-like domains 10 (MEGF10) gene, which causes early-onset myopathy characterized by severe weakness, scoliosis, joint contractures, areflexia, respiratory distress, and dysphagia, and a milder phenotype of minicore myopathy. MEGF10 Myopathy MEGF10-Related Myopathy EMARDD early-onset myopathy, areflexia, respiratory distress and dysphagia early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome myopathy, areflexia, respiratory distress, and dysphagia, early-onset myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant MEGF10-Related Myopathy MONDO:0013732 glucocorticoid therapy, response to GCTR glucocorticoid therapy, response to MONDO:0013734 Any syndromic microphthalmia in which the cause of the disease is a mutation in the VAX1 gene. VAX1 syndromic microphthalmia microphthalmia, syndromic 11 microphthalmia, syndromic type 11 syndromic microphthalmia caused by mutation in VAX1 MCOPS11 microphthalmia, syndromic 11 MONDO:0013735 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern. https://github.com/monarch-initiative/mondo/issues/5588 microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome MCHCCD Zaki-Gleeson syndrome microcephaly, cerebellar hypoplasia, and CARDIAC conduction defect syndrome microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome MONDO:0013736 Any autosomal dominant centronuclear myopathy in which the cause of the disease is a mutation in the MYF6 gene. https://github.com/monarch-initiative/mondo/issues/5906 2023-05-01 MYF6 autosomal dominant centronuclear myopathy autosomal dominant centronuclear myopathy caused by mutation in MYF6 myopathy, centronuclear, 3 myopathy, centronuclear, type 3 CNM3 Reason: terms merged in OMIM. This will be merged with MONDO:0008048 autosomal dominant centronuclear myopathy' myopathy, centronuclear, 3 MONDO:0013737 A rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase. GBA2 autosomal recessive complex spastic paraplegia SPG46 autosomal recessive complex spastic paraplegia caused by mutation in GBA2 autosomal recessive spastic paraplegia 46 autosomal recessive spastic paraplegia type 46 hereditary spastic paraplegia 46 hereditary spastic paraplegia type 46 spastic paraplegia 46, autosomal recessive hereditary spastic paraplegia 46 MONDO:0013738 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1p36.31-p36.13. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB96 autosomal recessive deafness 96 autosomal recessive nonsyndromic deafness 96 autosomal recessive nonsyndromic deafness type 96 deafness, autosomal recessive 96 autosomal recessive nonsyndromic hearing loss 96 MONDO:0013739 Any chilblain lupus in which the cause of the disease is a mutation in the SAMHD1 gene. Chilblain lupus type 2 SAMHD1 chilblain lupus chilblain lupus 2 chilblain lupus caused by mutation in SAMHD1 CHBL2 chilblain lupus 2 MONDO:0013740 Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated. https://github.com/monarch-initiative/mondo/issues/4521 craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies RHFCA radiohumeral fusions with other skeletal and craniofacial anomalies lethal occipital encephalocele-skeletal dysplasia syndrome MONDO:0013741 A temporal lobe epilepsy that has material basis in heterozygous mutation in the CPA6 gene on chromosome 8q13. ETL5 epilepsy, familial temporal lobe, type 5 familial temporal lobe epilepsy type 5 epilepsy, familial temporal lobe, 5 familial temporal lobe epilepsy 5 MONDO:0013742 febrile seizures, familial, type 11 FEB11 febrile seizures, familial, 11 familial mesial temporal lobe epilepsy with febrile seizures MONDO:0013743 An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3. autosomal SLE familial SLE familial systemic lupus erythematosus SLEB16 systemic lupus erythematosus 16 systemic lupus erythematosus type 16 Editor note: it is not clear what the ORDO class Orphanet:300345 should be equivalent to, see https://github.com/monarch-initiative/mondo/issues/1164 autosomal systemic lupus erythematosus type 16 MONDO:0013744 A cataract that has material basis in variation in the region 12q24.2-q24.3. https://github.com/monarch-initiative/mondo/issues/4521 CTRCT37 cataract 37 cataract 37, autosomal dominant cataract type 37 CCA5 congenital cataract cerulean type 5 cataract, congenital, cerulean type, 5 cataract 37 MONDO:0013745 Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM237 gene. JBTS14 Joubert syndrome 14 Joubert syndrome caused by mutation in TMEM237 Joubert syndrome type 14 TMEM237 Joubert syndrome Joubert syndrome 14 MONDO:0013746 Any ventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene. GATA4 ventricular septal defect (disease) ventricular septal defect (disease) caused by mutation in GATA4 ventricular septal defect 1 ventricular septal defect type 1 VSD1 ventricular septal defect 1 MONDO:0013747 Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene. GATA4 atrioventricular septal defect atrioventricular septal defect 4 atrioventricular septal defect caused by mutation in GATA4 atrioventricular septal defect type 4 AVSD4 atrioventricular septal defect 4 MONDO:0013748 Any ventricular septal defect in which the cause of the disease is a mutation in the CITED2 gene. CITED2 ventricular septal defect (disease) ventricular septal defect (disease) caused by mutation in CITED2 ventricular septal defect 2 ventricular septal defect type 2 VSD2 ventricular septal defect 2 MONDO:0013749 Any ventricular septal defect in which the cause of the disease is a mutation in the NKX2-5 gene. NKX2-5 ventricular septal defect (disease) ventricular septal defect (disease) caused by mutation in NKX2-5 ventricular septal defect 3 ventricular septal defect type 3 VSD3 ventricular septal defect 3 MONDO:0013750 Any atrial heart septal defect in which the cause of the disease is a mutation in the CITED2 gene. ASD8 CITED2 atrial heart septal defect atrial heart septal defect caused by mutation in CITED2 atrial heart septal defect type 8 atrial septal defect 8 atrial septal defect type 8 atrial septal defect 8 MONDO:0013751 Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the FBLN5 gene. FBLN5 autosomal dominant cutis laxa autosomal dominant cutis laxa 2 autosomal dominant cutis laxa caused by mutation in FBLN5 cutis laxa, autosomal dominant 2 cutis laxa, autosomal dominant type 2 ADCL2 cutis laxa, autosomal dominant 2 MONDO:0013752 Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the NKX2-5 gene. NKX2-5 hypoplastic left heart syndrome hypoplastic left heart syndrome 2 hypoplastic left heart syndrome caused by mutation in NKX2-5 hypoplastic left heart syndrome type 2 HLHS2 hypoplastic left heart syndrome 2 MONDO:0013753 Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the LRSAM1 gene. CMT2P Charcot-Marie-Tooth disease caused by mutation in LRSAM1 Charcot-Marie-Tooth disease type 2P Charcot-Marie-Tooth disease, axonal, type 2P Charcot-Marie-Tooth neuropathy type 2P Charcot-Marie-Tooth neuropathy, type 2P Charcot-Marie-Toothe disease, axonal, type 2P LRSAM1 Charcot-Marie-Tooth disease autosomal dominant Charcot-Marie-Tooth disease type 2G CMT 2G CMT2G Charcot Marie Tooth disease type 2G Charcot-Marie-Tooth disease type 2G Charcot-Marie-Tooth disease, axonal, type 2G Charcot-Marie-Tooth disease, axonal, type 2G, formerly Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive Charcot-Marie-Tooth disease, type 4A, axonal form Charcot-Marie-Tooth neuropathy, type 2G Charcot-Marie-Tooth disease axonal type 2P https://rarediseases.info.nih.gov/diseases/12435/charcot-marie-tooth-disease-type-2p MONDO:0013754 An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has material basis in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13. ARCL1B autosomal recessive cutis laxa type IB cutis laxa, autosomal recessive, type IB cutis laxa, autosomal recessive, type 1B MONDO:0013755 Any de Barsy syndrome in which the cause of the disease is a mutation in the PYCR1 gene. ARCL3B De Barsy syndrome B PYCR1 de Barsy syndrome PYCR1 deficiency de Barsy syndrome caused by mutation in PYCR1 pyrroline-5-carboxylate reductase 1 deficiency autosomal recessive cutis laxa type IIIB cutis laxa, autosomal recessive, type 3B cutis laxa, autosomal recessive, type IIIB PYCR1-related de Barsy syndrome MONDO:0013756 Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the SLCO2A1 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 SLCO2A1 primary hypertrophic osteoarthropathy hypertrophic osteoarthropathy, primary, autosomal recessive 2 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 hypertrophic osteoarthropathy, primary, autosomal recessive, type 2 primary hypertrophic osteoarthropathy caused by mutation in SLCO2A1 PDP, autosomal recessive PHOAR2 pachydermoperiostosis, autosomal recessive hypertrophic osteoarthropathy, primary, autosomal recessive, 2 MONDO:0013757 Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the THRA gene. https://github.com/monarch-initiative/mondo/issues/4069 CHNG6 THRA hypothyroidism, congenital, nongoitrous hypothyroidism, congenital, nongoitrous caused by mutation in THRA hypothyroidism, congenital, nongoitrous, type 6 congenital nongoitrous hypothyroidism 6 hypothyroidism, congenital, nongoitrous, 6 congenital nongoitrous hypothryoidism 6 MONDO:0013758 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is characterised by the association of Charcot-Marie-Tooth disease (hereditary peripheral neuropathy) with nephropathy. So far, around 15 cases have been described. All patients had proteinuria (with or without microhematuria) at onset and some patients presented with nephrotic syndrome. In the majority of cases, pathological studies revealed glomerulosclerosis. The mode of transmission is unknown. CMTDIE Charcot-Marie-Tooth disease dominant intermediate E Charcot-Marie-Tooth disease dominant intermediate type E Charcot-Marie-Tooth disease, dominant Intermediate type E Charcot-Marie-Tooth disease-nephropathy syndrome Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis autosomal dominant intermediate Charcot-Marie-Tooth disease type E Charcot-Marie-Tooth disease - nephropathy Charcot-Marie-Tooth disease, dominant intermediate E Not in the OMIM series. Charcot-Marie-Tooth disease dominant intermediate E MONDO:0013759 An inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer. MITF-related melanoma and renal cell carcinoma predisposition syndrome melanoma, cutaneous malignant, susceptibility to, 8 melanoma, cutaneous malignant, susceptibility to, type 8 CMM8 melanoma and renal cell carcinoma, susceptibility to susceptibility to cutaneous malignant melanoma 8 melanoma, cutaneous malignant, susceptibility to, 8 MONDO:0013760 https://github.com/monarch-initiative/mondo/issues/4069 congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome ISQMR ichthyosis, spastic quadriplegia, and intellectual disability ichthyosis, spastic quadriplegia, and mental retardation congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome MONDO:0013761 childhood encephalopathy due to thiamine pyrophosphokinase deficiency THMD5 encephalopathy, episodic, due to thiamine pyrophosphokinase deficiency thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) childhood encephalopathy due to thiamine pyrophosphokinase deficiency MONDO:0013762 Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria. Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-onset lactic acidosis, severe encephalopathy, seizures, poor growth, hypotonia, and developmental delay. It is caused by changes (mutations) in the LIAS gene and it is inherited in an autosomal recessive pattern. Treatment is based on the signs and symptoms present in each person. HGCLAS PDHLD hyperglycinemia, lactic acidosis, and seizures pyruvate dehydrogenase lipoic acid synthetase deficiency lipoic acid synthetase deficiency https://rarediseases.info.nih.gov/diseases/12678/lipoic-acid-synthetase-deficiency MONDO:0013763 Any Joubert syndrome in which the cause of the disease is a mutation in the CEP41 gene. CEP41 Joubert syndrome JBTS15 Joubert syndrome 15 Joubert syndrome caused by mutation in CEP41 Joubert syndrome type 15 Joubert syndrome 12/15, digenic Joubert syndrome 9/15, digenic Joubert syndrome 15 MONDO:0013764 Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM138 gene. JBTS16 Joubert syndrome 16 Joubert syndrome caused by mutation in TMEM138 Joubert syndrome type 16 TMEM138 Joubert syndrome Joubert syndrome 16 MONDO:0013765 Any coronary artery disease in which the cause of the disease is a mutation in the MMP3 gene. MMP3 coronary artery disease coronary artery disease caused by mutation in MMP3 coronary heart disease, susceptibility to, 6 coronary heart disease, susceptibility to, type 6 CHDS6 susceptibility to coronary heart disease 6 coronary heart disease, susceptibility to, 6 MONDO:0013766 A rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease. https://github.com/monarch-initiative/mondo/issues/5682 FACU PLCG2 familial cold autoinflammatory syndrome familial atypical cold urticaria familial cold autoinflammatory syndrome 3 familial cold autoinflammatory syndrome caused by mutation in PLCG2 familial cold autoinflammatory syndrome type 3 familial cold urticaria with common variable immunodeficiency plaid FCAS3 PLCG2-associated antibody deficiency and immune dysregulation antibody deficiency and immune dysregulation, PLCG2-associated familial cold autoinflammatory syndrome 3 MONDO:0013767 RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia. https://github.com/monarch-initiative/mondo/issues/4521 ALPS type 4 ALPS type IV ALPS4 NRAS autoimmune lymphoproliferative syndrome RALD RAS-associated autoimmune leukoproliferative disease RAS-associated autoimmune leukoproliferative disorder RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic autoimmune lymphoproliferative syndrome caused by mutation in NRAS autoimmune lymphoproliferative syndrome type 4 autoimmune lymphoproliferative syndrome type IV autoimmune lymphoproliferative syndrome, type 4 autoimmune lymphoproliferative syndrome type 4 MONDO:0013768 Any arterial calcification of infancy in which the cause of the disease is a mutation in the ABCC6 gene. ABCC6 arterial calcification of infancy arterial calcification of infancy caused by mutation in ABCC6 arterial calcification, generalized, of infancy, 2 arterial calcification, generalized, of infancy, type 2 GACI2 arterial calcification, generalized, of infancy, 2 MONDO:0013769 Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA6 gene. GATA6 atrioventricular septal defect atrioventricular septal defect 5 atrioventricular septal defect caused by mutation in GATA6 atrioventricular septal defect type 5 AVSD5 atrioventricular septal defect 5 MONDO:0013770 Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA6 gene. ASD9 GATA6 atrial heart septal defect atrial heart septal defect caused by mutation in GATA6 atrial heart septal defect type 9 atrial septal defect 9 atrial septal defect type 9 atrial septal defect 9 MONDO:0013771 transient infantile hypertriglyceridemia and fatty liver transient infantile hypertriglyceridemia and hepatosteatosis HTGTI hypertriglyceridemia, transient infantile transient infantile hypertriglyceridemia and hepatosteatosis MONDO:0013772 https://github.com/monarch-initiative/mondo/issues/4069 congenital cataract-deafness-severe developmental delay syndrome lethal neurodegenerative disorder due to copper transport defect CCHLND congenital cataracts, hearing loss, and neurodegeneration congenital cataract-hearing loss-severe developmental delay syndrome MONDO:0013773 Any porencephaly in which the cause of the disease is a mutation in the COL4A2 gene. https://github.com/monarch-initiative/mondo/issues/4521 COL4A2 porencephaly brain small vessel disease 2 porencephaly 2 porencephaly caused by mutation in COL4A2 porencephaly type 2 POREN2 porencephaly 2 MONDO:0013774 Any isolated trigonocephaly in which the cause of the disease is a mutation in the FREM1 gene. FREM1 isolated trigonocephaly isolated trigonocephaly caused by mutation in FREM1 trigonocephaly 2 trigonocephaly type 2 TRIGNO2 craniosynostosis, metopic trigonocephaly 2 MONDO:0013775 https://github.com/monarch-initiative/mondo/issues/4521 THBD-related bleeding disorder THBD-related coagulopathy thrombomodulin-related coagulopathy thrombophilia 12 due to thrombomodulin defect THPH12 thrombophilia due to thrombomodulin defect thrombomodulin-related bleeding disorder MONDO:0013776 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated. AFG3L2 autosomal recessive spastic ataxia AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome AFG3L2-related spastic ataxia-neuropathy syndrome SPAX5 autosomal recessive spastic ataxia caused by mutation in AFG3L2 autosomal recessive spastic ataxia type 5 spastic ataxia type 5 early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome spastic ataxia 5, autosomal recessive spastic ataxia 5 MONDO:0013777 Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK4 gene. PHA2B WNK4 pseudohypoaldosteronism type 2 pseudohypoaldosteronism type 2 caused by mutation in WNK4 pseudohypoaldosteronism, type 2B pseudohypoaldosteronism, type IIB pseudohypoaldosteronism type 2B MONDO:0013778 Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK1 gene. PHA2C WNK1 pseudohypoaldosteronism type 2 pseudohypoaldosteronism type 2 caused by mutation in WNK1 pseudohypoaldosteronism, type 2C pseudohypoaldosteronism, type IIC pseudohypoaldosteronism type 2C MONDO:0013779 Any Wiskott-Aldrich syndrome in which the cause of the disease is a mutation in the WIPF1 gene. WIPF1 Wiskott-Aldrich syndrome Wiskott-Aldrich syndrome 2 Wiskott-Aldrich syndrome caused by mutation in WIPF1 Wiskott-Aldrich syndrome type 2 WAS2 Wipf1 deficiency Wiskott-Aldrich syndrome 2 MONDO:0013780 A retinitis pigmentosa that has material basis in variation in the chromosome region 6q23. RP63 retinitis pigmentosa 63 retinitis pigmentosa type 63 retinitis pigmentosa 63 MONDO:0013781 Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the KLHL3 gene. KLHL3 pseudohypoaldosteronism type 2 PHA2D pseudohypoaldosteronism type 2 caused by mutation in KLHL3 familial hyperkalemic hypertension pseudohypoaldosteronism, type 2D pseudohypoaldosteronism, type IID pseudohypoaldosteronism type 2D MONDO:0013782 Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the CUL3 gene. CUL3 pseudohypoaldosteronism type 2 Cul3 pseudohypoaldosteronism type 2 PHA2E pseudohypoaldosteronism type 2 caused by mutation in CUL3 pseudohypoaldosteronism type 2 caused by mutation in Cul3 pseudohypoaldosteronism, type 2E pseudohypoaldosteronism, type IIE pseudohypoaldosteronism type 2E MONDO:0013783 Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the ABCB6 gene. ABCB6 microphthalmia, isolated, with coloboma microphthalmia, isolated, with coloboma 7 microphthalmia, isolated, with coloboma caused by mutation in ABCB6 microphthalmia, isolated, with coloboma type 7 MCOPCB7 microphthalmia, isolated, with coloboma 7 MONDO:0013784 https://github.com/monarch-initiative/mondo/issues/5125 lethal neonatal rigidity-multifocal seizure syndrome lethal neonatal spasticity-epileptic encephalopathy syndrome neonatal-onset encephalopathy with rigidity and seizures RMFSL rigidity and multifocal seizure syndrome, lethal neonatal neonatal-onset encephalopathy with rigidity and seizures MONDO:0013785 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRADD gene. https://github.com/monarch-initiative/mondo/issues/4521 CRADD autosomal recessive non-syndromic intellectual disability autosomal recessive non-syndromic intellectual disability caused by mutation in CRADD intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly intellectual disability, autosomal recessive 34 intellectual disability, autosomal recessive type 34 mental retardation, autosomal recessive type 34 MRT34 intellectual disability, autosomal recessive 34, with variant lissencephaly mental retardation, autosomal recessive 34 mental retardation, autosomal recessive 34, with variant lissencephaly intellectual disability, autosomal recessive 34 MONDO:0013786 Any cone-rod dystrophy in which the cause of the disease is a mutation in the C8orf37 gene. C8orf37 cone-rod dystrophy CORD16 cone-rod dystrophy 16 cone-rod dystrophy caused by mutation in C8orf37 cone-rod dystrophy type 16 retinal dystrophy with early macular involvement retinitis pigmentosa 64 cone-rod dystrophy 16 MONDO:0013787 https://github.com/monarch-initiative/mondo/issues/4521 neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures psychomotor retardation, epilepsy, and craniofacial dysmorphism PMRED psychomotor retardation, epilepsy, and craniofacial dysmorphism MONDO:0013788 Any Usher syndrome in which the cause of the disease is a mutation in the HARS gene. HARS Usher syndrome USH3B Usher syndrome caused by mutation in HARS Usher syndrome type IIIB USHER syndrome, type IIIB Usher syndrome, type 3B Usher syndrome type 3B MONDO:0013789 DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1). CDG syndrome type Ir CDG-Ir CDG1R DDOST-CDG DDOST-congenital disorder of glycosylation carbohydrate deficient glycoprotein syndrome type Ir congenital disorder of glycosylation type 1r congenital disorder of glycosylation type Ir DDOST-CDG (CDG-Ir) carbohydrate deficient glycoprotein syndrome type congenital disorder of glycosylation, type Ir DDOST-congenital disorder of glycosylation MONDO:0013790 Any familial congenital mirror movements in which the cause of the disease is a mutation in the RAD51 gene. RAD51 familial congenital mirror movements familial congenital mirror movements caused by mutation in RAD51 mirror movements 2 mirror movements type 2 MRMV2 mirror movements 2 MONDO:0013791 https://github.com/monarch-initiative/mondo/issues/4521 thrombophilia 5 due to protein S deficiency, autosomal recessive thrombophilia due to protein S deficiency, autosomal recessive THPH6 thrombophilia due to PROTEIN S deficiency, autosomal recessive thrombophilia due to protein S deficiency, autosomal recessive MONDO:0013792 Bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma. https://github.com/monarch-initiative/mondo/issues/4521 stroke, hemorrhagic hemorrhage, intracerebral, susceptibility to ich stroke, hemorrhagic, susceptibility to Editor note: consider separate subclass for OMIM ID intracerebral hemorrhage MONDO:0013793 encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency MONDO:0013794 Familial thrombocytosis in which the cause of the disease is a mutation in the JAK2 gene. https://github.com/monarch-initiative/mondo/issues/230 https://github.com/monarch-initiative/mondo/issues/4521 JAK2 familial thrombocytosis familial thrombocytosis caused by mutation in JAK2 thrombocythemia 3 thrombocythemia 3, autosomal dominant, somatic mutation thrombocythemia type 3 THCYT3 thrombocytosis 3 thrombocythemia 3 MONDO:0013795 Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A2 gene. https://github.com/monarch-initiative/mondo/issues/4948 COL11A2 fibrochondrogenesis fibrochondrogenesis 2 fibrochondrogenesis caused by mutation in COL11A2 fibrochondrogenesis type 2 FBCG2 fibrochondrogenesis 2 MONDO:0013796 17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia. https://github.com/monarch-initiative/mondo/issues/3492 17q12 microduplication syndrome chromosome 17q12 duplication syndrome dup(17)(q12) trisomy 17q12 17q12 duplication 17q12 microduplication recurrent duplication of 17q12 chromosome 17q12 duplication syndrome MONDO:0013797 17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transcient hypercalcaemia have also been reported. https://github.com/monarch-initiative/mondo/issues/3664 17q12 microdeletion syndrome Del(17)(q12) chromosome 17q12 deletion syndrome monosomy 17q12 17q12 deletion syndrome 17q12 recurrent deletion syndrome chromosome 17q12 deletion syndrome MONDO:0013798 https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/4521 chromosome 16q22 deletion syndrome chromosome 16q22 deletion syndrome, isolated cases chromosome 16q22 deletion syndrome MONDO:0013800 A form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment. https://github.com/monarch-initiative/mondo/issues/4220 https://github.com/monarch-initiative/mondo/issues/4948 EDS with progressive kyphoscoliosis, myopathy, and deafness EDS with progressive kyphoscoliosis, myopathy, and hearing loss EDS, kyphoscoliotic and hearing loss type Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss Ehlers-Danlos syndrome, kyphoscoliotic and deafness type Ehlers-Danlos syndrome, kyphoscoliotic and hearing loss type Ehlers-Danlos syndrome, kyphoscoliotic type, 2 EDSKMH EDSKSCL2 Ehlers-Danlos syndrome, kyphoscoliotic and deafness type MONDO:0013801 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN8A gene. https://github.com/monarch-initiative/mondo/issues/4521 DEE13 EIEE13 SCN8A early infantile epileptic encephalopathy developmental and epileptic encephalopathy 13 early infantile epileptic encephalopathy caused by mutation in SCN8A early infantile epileptic encephalopathy-13 epileptic encephalopathy, early infantile, 13 epileptic encephalopathy, early infantile, type 13 SCN8A encephalopathy SCN8A epilepsy developmental and epileptic encephalopathy, 13 MONDO:0013802 Infantile cerebellar retinal degeneration (ICRD) is a genetic condition present from birth (congenital) that involves the brain and eyes. Individuals with this condition usually develop symptoms around six months of age including developmental delays, low muscle tone (hypotonia), and seizures. Other symptoms may include head bobbing, abnormal muscle twitching and movement, and loss of brain cells in the main part of the brain called the cerebellum. Eye findings in individuals with this condition may include retinal degeneration (weakening of the layer of tissue in the back of the eye that senses light), strabismus (crossed eyes), and nystagmus (fast, uncontrollable movements of the eyes). ICRD is caused by mutations in the ACO2 gene and is inherited in an autosomal recessive manner. While there is still no cure for this condition, treatment options will depend on the type and severity of symptoms. infantile cerebellar-retinal degeneration ICRD infantile cerebellar retinal degeneration infantile cerebellar-retinal degeneration https://rarediseases.info.nih.gov/diseases/13264/infantile-cerebellar-retinal-degeneration MONDO:0013803 LCC leukoencephalopathy, brain calcifications, and cysts Labrune syndrome leukoencephalopathy with calcifications and cysts MONDO:0013805 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DYNC1H1 gene. DYNC1H1 autosomal dominant non-syndromic intellectual disability MRD13 autosomal dominant intellectual disability 13 autosomal dominant mental retardation 13 autosomal dominant non-syndromic intellectual disability caused by mutation in DYNC1H1 intellectual disability, autosomal dominant 13 intellectual disability, autosomal dominant 13, with neuronal migration defects intellectual disability, autosomal dominant type 13 mental retardation, autosomal dominant 13, with neuronal migration defects mental retardation, autosomal dominant type 13 autosomal dominant non-syndromic intellectual disability 13 intellectual disability, autosomal dominant, 13, with neuronal migration defects mental retardation, autosomal dominant 13 mental retardation, autosomal dominant, 13, with neuronal migration defects intellectual disability, autosomal dominant 13 MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome FCTCS cutaneous telangiectasia and cancer syndrome, familial familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome telangiectasia, cutaneous, and cancer syndrome, familial familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome MONDO:0013807 Any congenital stationary night blindness in which the cause of the disease is a mutation in the GPR179 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5693 CSNB1E GPR179 congenital stationary night blindness congenital stationary night blindness 1E congenital stationary night blindness 1E autosomal recessive congenital stationary night blindness caused by mutation in GPR179 congenital stationary night blindness type 1E night blindness, congenital stationary (complete), 1E, autosomal recessive Csnb, complete, autosomal recessive night blindness, congenital stationary, type 1E congenital stationary night blindness 1E MONDO:0013808 Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas. Chondroplasia angiomatosis Dyschondroplasia and cavernous hemangioma Maffucci syndrome Maffucci type enchondromatosis Maffucci's anomalad chondrodysplasia with hemangioma enchondromatosis with hemangiomata hemangiomata with Dyschondroplasia Dyschondrodysplasia with hemangiomas Kast syndrome enchondromatosis with multiple cavernous hemangiomas hemangiomatosis Chondrodystrophica multiple Angiomas and Endochondromas multiple enchondromatosis, Maffucci type Maffucci syndrome https://rarediseases.info.nih.gov/diseases/6958/maffucci-syndrome MONDO:0013810 CDG syndrome type IIL CDG-IIL CDG2L COG6-CDG COG6-congenital disorder of glycosylation congenital disorder of glycosylation type 2l congenital disorder of glycosylation type IIL CDG IIL CDGIIl COG6-CDG (CDG-IIL) congenital disorder of glycosylation, type IIL COG6-ongenital disorder of glycosylation MONDO:0013811 Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V. COXPD9 MRPL3 combined oxidative phosphorylation deficiency combined oxidative phosphorylation deficiency caused by mutation in MRPL3 combined oxidative phosphorylation deficiency type 9 combined oxidative phosphorylation deficiency 9 combined oxidative phosphorylation defect type 9 MONDO:0013812 Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTG1 gene. ACTG1 Baraitser-Winter cerebrofrontofacial syndrome Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTG1 Baraitser-Winter syndrome type 2 Baraitser-winter syndrome 2 BRWS2 Baraitser-WINTER syndrome 2 Baraitser-winter syndrome 2 MONDO:0013813 Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia. DYT21 dystonia 21 dystonia type 21 primary dystonia, DYT21 type dystonia 21 MONDO:0013814 https://github.com/monarch-initiative/mondo/issues/4882 PDCOS podoconiosis, susceptibility to Nonfilarial elephantiasis of Lower legs, susceptibility to endemic Nonfilarial elephantiasis, susceptibility to lymphostatic verrucosis, susceptibility to podoconiosis, susceptibility to MONDO:0013815 https://github.com/monarch-initiative/mondo/issues/4948 perinatal lethal bent bone dysplasia BBDS bent bone dysplasia (BBD)-FGFR2 type bent bone dysplasia syndrome FGFR2-related bent bone dysplasia MONDO:0013817 Any preeclampsia in which the cause of the disease is a mutation in the CORIN gene. CORIN preeclampsia Corin preeclampsia Preeclampsia/eclampsia type 5 preeclampsia caused by mutation in CORIN preeclampsia caused by mutation in Corin preeclampsia/eclampsia 5 PEE5 PREECLAMPSIA/eclampsia 5 preeclampsia/eclampsia 5 MONDO:0013818 Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the SKIV2L gene. SKIV2L tricho-hepato-enteric syndrome Trichohepatoenteric syndrome 2 Trichohepatoenteric syndrome type 2 tricho-hepato-enteric syndrome caused by mutation in SKIV2L THES2 TRICHOHEPATOENTERIC syndrome 2 trichohepatoenteric syndrome 2 MONDO:0013819 Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1A gene. https://github.com/monarch-initiative/mondo/issues/3939 ARID1A Coffin-Siris syndrome ARID1A-related BAFopathy CSS2 Coffin-Siris syndrome caused by mutation in ARID1A MRD14 autosomal dominant intellectual disability 14 autosomal dominant mental retardation 14 intellectual disability, autosomal dominant 14 intellectual disability, autosomal dominant type 14 mental retardation, autosomal dominant type 14 COFFIN-SIRIS syndrome 2 Coffin-Siris syndrome 2 mental retardation, autosomal dominant 14 intellectual disability, autosomal dominant 14 MONDO:0013820 Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCB1 gene. https://github.com/monarch-initiative/mondo/issues/3939 https://github.com/monarch-initiative/mondo/issues/4948 COFFIN-SIRIS syndrome 3 CSS3 Coffin-Siris syndrome caused by mutation in SMARCB1 MRD15 SMARCB1 Coffin-Siris syndrome SMARCB1-related BAFopathy autosomal dominant intellectual disability 15 autosomal dominant mental retardation 15 intellectual disability, autosomal dominant 15 intellectual disability, autosomal dominant type 15 mental retardation, autosomal dominant type 15 mental retardation, autosomal dominant 15 intellectual disability, autosomal dominant 15 MONDO:0013821 Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCA4 gene. https://github.com/monarch-initiative/mondo/issues/3939 https://github.com/monarch-initiative/mondo/issues/4948 COFFIN-SIRIS syndrome 4 CSS4 Coffin-Siris syndrome caused by mutation in SMARCA4 MRD16 SMARCA4 Coffin-Siris syndrome SMARCA4-related BAFopathy autosomal dominant intellectual disability 16 autosomal dominant mental retardation 16 intellectual disability, autosomal dominant 16 intellectual disability, autosomal dominant type 16 mental retardation, autosomal dominant type 16 mental retardation, autosomal dominant 16 intellectual disability, autosomal dominant 16 MONDO:0013822 Any acrodysostosis in which the cause of the disease is a mutation in the PDE4D gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 PDE4D acrodysostosis acrodysostosis 2 with or without hormone resistance acrodysostosis 2, with or without hormone resistance acrodysostosis caused by mutation in PDE4D ACRDYS2 acrodysostosis 2 with or without hormone resistance MONDO:0013823 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CEACAM16 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 CEACAM16 autosomal dominant nonsyndromic deafness DFNA4B autosomal dominant deafness 4B autosomal dominant nonsyndromic deafness 4B autosomal dominant nonsyndromic deafness caused by mutation in CEACAM16 autosomal dominant nonsyndromic deafness type 4B deafness, autosomal dominant 4B deafness, autosomal dominant 4b deafness, autosomal dominant type 4B autosomal dominant nonsyndromic hearing loss 4B MONDO:0013824 Any Joubert syndrome in which the cause of the disease is a mutation in the CPLANE1 gene. CPLANE1 Joubert syndrome JBTS17 Joubert syndrome 17 Joubert syndrome caused by mutation in CPLANE1 Joubert syndrome type 17 Joubert syndrome 17 MONDO:0013825 Any congenital diarrhea in which the cause of the disease is a mutation in the GUCY2C gene. https://github.com/monarch-initiative/mondo/issues/4069 GUCY2C congenital diarrhea chronic diarrhea due to guanylate cyclase 2C overactivity congenital diarrhea caused by mutation in GUCY2C congenital diarrhea type 6 diarrhea type 6 DIAR6 diarrhea 6 congenital diarrhea 6 MONDO:0013826 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB86 TBC1D24 autosomal recessive nonsyndromic deafness autosomal recessive deafness 86 autosomal recessive nonsyndromic deafness 86 autosomal recessive nonsyndromic deafness caused by mutation in TBC1D24 autosomal recessive nonsyndromic deafness type 86 deafness, autosomal recessive 86 deafness, autosomal recessive type 86 autosomal recessive nonsyndromic hearing loss 86 MONDO:0013827 Any hereditary hyperekplexia in which the cause of the disease is a mutation in the SLC6A5 gene. HKPX3 SLC6A5 hereditary hyperekplexia hereditary hyperekplexia caused by mutation in SLC6A5 hyperekplexia 3 hyperekplexia type 3 hyperekplexia 3 MONDO:0013828 Any hereditary hyperekplexia in which the cause of the disease is a mutation in the GLRB gene. GLRB hereditary hyperekplexia HKPX2 hereditary hyperekplexia caused by mutation in GLRB hyperekplexia 2 hyperekplexia type 2 hyperekplexia 2 MONDO:0013829 Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC8 gene. ERCC8 UV-sensitive syndrome UV-sensitive syndrome 2 UV-sensitive syndrome caused by mutation in ERCC8 UV-sensitive syndrome type 2 UVSS2 UV-sensitive syndrome 2 MONDO:0013830 KTCN5 keratoconus 5 keratoconus 5 MONDO:0013831 KTCN6 keratoconus 6 keratoconus 6 MONDO:0013832 KTCN8 keratoconus 8 keratoconus 8 MONDO:0013833 KTCN7 keratoconus 7 keratoconus 7 MONDO:0013834 Any UV-sensitive syndrome in which the cause of the disease is a mutation in the UVSSA gene. UV-sensitive syndrome 3 UV-sensitive syndrome caused by mutation in UVSSA UV-sensitive syndrome type 3 UVSSA UV-sensitive syndrome UVSS3 UV-sensitive syndrome 3 MONDO:0013835 Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the ISPD gene. ISPD muscular dystrophy-dystroglycanopathy, type A muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 muscular dystrophy-dystroglycanopathy, type A caused by mutation in ISPD MDDGA7 Walker-Warburg syndrome or muscle-eye-brain disease, ISPD-related muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 MONDO:0013836 coenzyme Q10 deficiency, primary, type 6 COQ10D6 coenzyme Q10 deficiency, primary, 6 familial steroid-resistant nephrotic syndrome with sensorineural deafness MONDO:0013837 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated. coenzyme Q10 deficiency, primary, type 2 hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome COQ10D2 coenzyme Q10 deficiency, primary, 2 deafness-encephaloneuropathy-obesity-valvulopathy syndrome MONDO:0013838 Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the PDSS2 gene. PDSS2 coenzyme Q10 deficiency coenzyme Q10 deficiency caused by mutation in PDSS2 coenzyme Q10 deficiency, primary, 3 coenzyme Q10 deficiency, primary, type 3 COQ10D3 coenzyme Q10 deficiency, primary, 3 MONDO:0013839 Any hereditary sensory and autonomic neuropathy in which the cause of the disease is a mutation in the DST gene. DST hereditary sensory and autonomic neuropathy HSAN6 familial dysautonomia with contractures hereditary sensory and autonomic neuropathy caused by mutation in DST hereditary sensory and autonomic neuropathy type VI HSAN 6 neuropathy, hereditary sensory and autonomic, type 6 neuropathy, hereditary sensory and autonomic, type VI hereditary sensory and autonomic neuropathy type 6 MONDO:0013840 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound. coenzyme Q10 deficiency, primary, type 5 COQ10D5 coenzyme Q10 deficiency, primary, 5 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome MONDO:0013841 STUT3 stuttering, familial persistent, 3 stuttering, familial persistent, 3 MONDO:0013842 Decreased activity of the enzyme 11-beta-hydroxysteroid dehydrogenase type 1 due to inactivating mutation(s) in the HSD11B1 gene. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from H6PD deficiency. 11-beta-hydroxysteroid dehydrogenase type 1 deficiency CORTRD2 HSD11B1 cortisone reductase deficiency cortisone reductase deficiency 2 cortisone reductase deficiency caused by mutation in HSD11B1 cortisone reductase deficiency type 2 cortisone reductase deficiency 2 MONDO:0013843 Any meconium ileus in which the cause of the disease is a mutation in the GUCY2C gene. https://github.com/monarch-initiative/mondo/issues/4521 meconium ileus GUCY2C meconium ileus meconium ileus caused by mutation in GUCY2C meconium ileus due to guanylate cyclase 2C deficiency intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency MONDO:0013844 STUT4 stuttering, familial persistent, 4 stuttering, familial persistent, 4 MONDO:0013845 Any auriculocondylar syndrome in which the cause of the disease is a mutation in the PLCB4 gene. https://github.com/monarch-initiative/mondo/issues/4948 Auriculocondylar syndrome 2 Auriculocondylar syndrome type 2 PLCB4 auriculocondylar syndrome auriculocondylar syndrome caused by mutation in PLCB4 ARCND2 AURICULOCONDYLAR syndrome 2 auriculocondylar syndrome 2 MONDO:0013846 https://github.com/monarch-initiative/mondo/issues/4882 peripartum cardiomyopathy, susceptibility to Ppcm, susceptibility to peripartum cardiomyopathy, susceptibility to MONDO:0013847 Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life. https://github.com/monarch-initiative/mondo/issues/3492 https://github.com/monarch-initiative/mondo/issues/5588 chromosome 16p11.2 duplication syndrome proximal 16p11.2 microduplication syndrome proximal dup(16)(p11.2) proximal trisomy 16p11.2 16p11.2 duplication 16p11.2 duplication syndrome 16p11.2 microduplication AUTS14B autism, susceptibility to, 14B susceptibility to autism, 14B chromosome 16p11.2 duplication syndrome MONDO:0013848 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the GATAD1 gene. CMD2B GATAD1 familial isolated dilated cardiomyopathy cardiomyopathy, dilated, type 2B dilated cardiomyopathy 2B dilated cardiomyopathy type 2B familial isolated dilated cardiomyopathy caused by mutation in GATAD1 cardiomyopathy, dilated, 2B dilated cardiomyopathy 2B MONDO:0013849 Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP135 gene. CEP135 autosomal recessive primary microcephaly autosomal recessive primary microcephaly caused by mutation in CEP135 microcephaly 8, primary, autosomal recessive MCPH8 microcephaly 8, primary, autosomal recessive MONDO:0013851 autosomal dominant aplastic anemia and myelodysplasia bone marrow failure syndrome type 1 BMFS1 bone marrow failure syndrome 1 autosomal dominant aplasia and myelodysplasia MONDO:0013852 A hypertrophic cardiomyopathy associated that has material basis in region 7p12.1-q21 variation. https://github.com/monarch-initiative/mondo/issues/4521 CMH21 cardiomyopathy familial hypertrophic 21 cardiomyopathy, hypertrophic, 21 hypertrophic cardiomyopathy type 21 cardiomyopathy, familial hypertrophic, 21 hypertrophic cardiomyopathy 21 MONDO:0013853 Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the EXOSC3 gene. EXOSC3 non-syndromic pontocerebellar hypoplasia non-syndromic pontocerebellar hypoplasia caused by mutation in EXOSC3 pontocerebellar hypoplasia type 1B PCH1B pontocerebellar hypoplasia, type 1B pontocerebellar hypoplasia type 1B MONDO:0013854 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC103 gene. CCDC103 primary ciliary dyskinesia CILD17 ciliary dyskinesia, primary, type 17 primary ciliary dyskinesia 17 primary ciliary dyskinesia 17 with or without situs inversus primary ciliary dyskinesia caused by mutation in CCDC103 primary ciliary dyskinesia type 17 ciliary dyskinesia, primary, 17 ciliary dyskinesia, primary, 17, with or without situs inversus primary ciliary dyskinesia 17 MONDO:0013855 influenza, severe, susceptibility to susceptibility to severe influenza influenza, severe, susceptibility to MONDO:0013856 hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes MONDO:0013857 alar cleft, isolated alar cleft, isolated MONDO:0013858 Pontine tegmental cap dysplasia (PTCD) is a non-progressive neurological disorder characterized by significant developmental delay, cranial nerve dysfunction, and malformation of the hindbrain.Individuals with PTCD may have a collection of medical and developmental problems including: hearing impairment, ataxia,language and speech disorders, feeding and swallowingdifficulties, heartmalformations and facial paralysis.The severity of themedical problems varies among patients. Some patients have a good long-term prognosiswith normal intelligence and partial speech. The cause of PTCD has not been identified. Treatment is focused on managing the underlying symptoms and may include interventions such as cochlear implantation. PTCD pontine tegmental cap dysplasia PONTINE tegmental CAP dysplasia pontine tegmental cap dysplasia https://rarediseases.info.nih.gov/diseases/10919/pontine-tegmental-cap-dysplasia MONDO:0013859 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the AGK gene. https://github.com/monarch-initiative/mondo/issues/4521 AGK early-onset non-syndromic cataract CATC5 CTRCT38 autosomal recessive congenital cataract 5 cataract 38 cataract 38, autosomal recessive cataract type 38 early-onset non-syndromic cataract caused by mutation in AGK cataract, autosomal recessive congenital 5 cataract 38 MONDO:0013860 Idiopathic membranous glomerulonephritis (IMG) is a primary glomerular disease characterized by proteinuria, usually in the nephrotic range, with preserved renal function. Idiopathic membranous glomerulopathy membranous nephropathy - Idiopathic Extramembranous glomerulonephritis MBNP MGN glomerulonephritis, membranous idiopathic membranous nephropathy membranous GN membranous nephropathy, susceptibility to idiopathic membranous glomerulonephritis MONDO:0013862 immunodeficiency, common variable, 7 immunodeficiency, common variable, type 7 CVID7 immunodeficiency, common variable, 7 MONDO:0013863 Cid due to LRBA deficiency combined immunodeficiency due to LRBA deficiency CVID8 immunodeficiency, common variable, 8, with autoimmunity combined immunodeficiency due to LRBA deficiency MONDO:0013864 Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the RAD21 gene. https://github.com/monarch-initiative/mondo/issues/4948 Cornelia De Lange syndrome type 4 Cornelia de Lange syndrome 4 Cornelia de Lange syndrome caused by mutation in RAD21 RAD21 Cornelia de Lange syndrome CDLS4 Cornelia DE Lange syndrome 4 Cornelia de Lange syndrome 4 MONDO:0013865 A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia. COXPD10 MTO1 combined oxidative phosphorylation deficiency combined oxidative phosphorylation defect type 10 combined oxidative phosphorylation deficiency caused by mutation in MTO1 combined oxidative phosphorylation deficiency type 10 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis combined oxidative phosphorylation deficiency 10 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency MONDO:0013866 Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the GRN gene. CLN11 GRN neuronal ceroid lipofuscinosis Grn neuronal ceroid lipofuscinosis ceroid lipofuscinosis, neuronal, type 11 neuronal ceroid lipofuscinosis caused by mutation in GRN neuronal ceroid lipofuscinosis caused by mutation in Grn neuronal ceroid lipofuscinosis type 11 CLN11 disease ceroid lipofuscinosis, neuronal, 11 neuronal ceroid lipofuscinosis 11 MONDO:0013867 Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A2 gene. Brown-Vialetto-Van Laere syndrome type 2 Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A2 SLC52A2 Brown-Vialetto-van Laere syndrome brown-Vialetto-van Laere syndrome 2 BROWN-Vialetto-VAN Laere syndrome 2 BVVLS2 brown-Vialetto-van Laere syndrome 2 https://rarediseases.info.nih.gov/diseases/12861/brown-vialetto-van-laere-syndrome-2 MONDO:0013868 POROK7 porokeratosis 7, disseminated superficial actinic type porokeratosis 7, multiple types porokeratosis 7, multiple types MONDO:0013869 Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy. 2,8-dihydroxyadenine urolithiasis 2,8-dihydroxyadeninuria disease APRT deficiency adenine phosphoribosyltransferase deficiency APRTD Dihydroxyadeninuria nephrolithiasis, Dha urolithiasis, 2,8-dihydroxyadenine urolithiasis, Dha adenine phosphoribosyltransferase deficiency https://rarediseases.info.nih.gov/diseases/10666/dihydroxyadeninuria MONDO:0013870 TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12). https://github.com/monarch-initiative/mondo/issues/4948 CDG syndrome type IIk CDG-IIk CDG2K TMEM165-CDG TMEM165-congenital disorder of glycosylation carbohydrate deficient glycoprotein syndrome type IIk congenital disorder of glycosylation type 2k congenital disorder of glycosylation type IIk CDG IIk TMEM165-CDG (CDG-IIk) congenital disorder of glycosylation, type IIk TMEM165-congenital disorder of glycosylation MONDO:0013871 Any Seckel syndrome in which the cause of the disease is a mutation in the CEP63 gene. CEP63 Seckel syndrome SCKL6 Seckel syndrome 6 Seckel syndrome caused by mutation in CEP63 Seckel syndrome type 6 Seckel syndrome 6 MONDO:0013872 Any familial prostate cancer in which the cause of the disease is a mutation in the ELAC2 gene. https://github.com/monarch-initiative/mondo/issues/4521 ELAC2 familial prostate cancer familial prostate cancer caused by mutation in ELAC2 prostate cancer, hereditary, 2 prostate cancer, hereditary, 2, susceptibility to prostate cancer, hereditary, type 2 HPC2 prostate cancer, hereditary, 2 MONDO:0013873 IMAGe syndrome is characterized by the association of intrauterine growth retardation, metaphyseal dysplasia (and short limbs), adrenal hypoplasia congenita, and genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait. https://github.com/monarch-initiative/mondo/issues/4948 IMAGe syndrome intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies IMAGe syndrome https://rarediseases.info.nih.gov/diseases/12312/image-syndrome MONDO:0013874 Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the NNT gene. https://github.com/monarch-initiative/mondo/issues/4521 NNT familial glucocorticoid deficiency familial glucocorticoid deficiency caused by mutation in NNT glucocorticoid deficiency 4 glucocorticoid deficiency 4, with or without mineralocorticoid deficiency glucocorticoid deficiency type 4 GCCD4 glucocorticoid deficiency 4 with or without mineralocorticoid deficiency glucocorticoid deficiency 4 MONDO:0013875 Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the SERAC1 gene. 3-methylglutaconic aciduria caused by mutation in SERAC1 3-methylglutaconic aciduria type 6 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome MEGDEL MEGDEL syndrome MGCA6 SERAC1 3-methylglutaconic aciduria 3-MGCA type IV (formerly) 3-MGCA-4 (formerly) 3-Methylglutaconic aciduria with dystonia-deafness, hepatopathy, encephalopathy, and Leigh-like syndrome 3-Methylglutaconic aciduria, type 6 3-methylglutaconic aciduria type VI SERAC1 defect Present because it is in the OMIM series. 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MONDO:0013876 Any skin basal cell carcinoma in which the cause of the disease is a mutation in the TP53 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 TP53 skin basal cell carcinoma basal cell carcinoma 7 basal cell carcinoma, susceptibility to, 7 basal cell carcinoma, susceptibility to, type 7 skin basal cell carcinoma caused by mutation in TP53 BCC7 susceptibility to basal cell carcinoma 7 basal cell carcinoma, susceptibility to, 7 MONDO:0013877 An autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation. mitochondrial pyruvate carrier deficiency MPYCD mitochondrial pyruvate carrier deficiency MONDO:0013878 Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the TERT gene. TERT pulmonary fibrosis and/or bone marrow failure, Telomere-related pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in TERT pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 1 PFBMFT1 pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 1 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 MONDO:0013879 https://github.com/monarch-initiative/mondo/issues/4521 aplastic anemia pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 2 PFBMFT2 pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 2 pulmonary fibrosis, idiopathic, susceptibility to pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 MONDO:0013880 Any congenital hereditary facial paralysis-variable hearing loss syndrome in which the cause of the disease is a mutation in the HOXB1 gene. https://github.com/monarch-initiative/mondo/issues/4069 HOXB1 congenital hereditary facial paralysis-variable hearing loss syndrome congenital hereditary facial paralysis-variable hearing loss syndrome caused by mutation in HOXB1 facial paresis, hereditary congenital, 3 facial paresis, hereditary congenital, type 3 HCFP3 facial paresis, hereditary congenital, 3 MONDO:0013881 Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair. https://github.com/monarch-initiative/mondo/issues/4069 JEB with respiratory and renal involvement JEB-RR congenital ILNEB syndrome congenital NEP syndrome congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome congenital nephrotic syndrome-epidermolysis bullosa-pulmonary disease syndrome ILNEB interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital junctional epidermolysis bullosa with respiratory and renal involvement congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome MONDO:0013882 Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGO gene. PIGO hyperphosphatasia-intellectual disability syndrome hyperphosphatasia with intellectual disability syndrome 2 hyperphosphatasia with intellectual disability syndrome type 2 hyperphosphatasia with mental retardation syndrome 2 hyperphosphatasia with mental retardation syndrome type 2 hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGO HPMRS2 glycosylphosphatidylinositol biosynthesis defect 6 hyperphosphatasia with intellectual disability syndrome 2 MONDO:0013883 Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the DPAGT1 gene. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 CMS13 CMSTA2 DPAGT1 congenital myasthenic syndromes with glycosylation defect congenital myasthenic syndrome 13 with tubular aggregates congenital myasthenic syndrome type 13 congenital myasthenic syndrome with tubular aggregates 2 congenital myasthenic syndromes with glycosylation defect caused by mutation in DPAGT1 myasthenic syndrome, congenital, 13, with tubular aggregates myasthenic syndrome, congenital, type 13 myasthenic syndrome, congenital, 13 myasthenic syndrome, congenital, with tubular aggregates 2 congenital myasthenic syndrome 13 MONDO:0013884 Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the REEP1 gene. REEP1 neuronopathy, distal hereditary motor neuronopathy, distal hereditary motor caused by mutation in REEP1 HMN 5B HMN5B dHMN 5B neuronopathy, distal hereditary motor, type VB neuropathy, distal hereditary motor, type 5B spinal muscular atrophy, distal, type 5B neuronopathy, distal hereditary motor, type 5B MONDO:0013885 Malan overgrowth syndrome is a multiple congenital anomalies syndrome characterized by moderate postnatal overgrowth, macrocephaly, craniofacial dysmorphism (including high forehead and anterior hairline, downslanting palpebral fissures, prominent chin), developmental delay, and intellectual disability. Additional variable manifestations include unusual behavior, with or without autistic traits, as well as ocular (e.g. strabismus, nystagmus, optic disc pallor/hypoplasia), gastrointestinal (e.g. vomiting, chronic diarrhea, constipation), musculoskeletal (e.g. scoliosis and pectus excavatum), hand/foot (e.g. long, tapered fingers) and central nervous system (e.g. slightly enlarged ventricles) anomalies. https://github.com/monarch-initiative/mondo/issues/4948 Sotos syndrome 2 Sotos syndrome type 2 Malan syndrome SOTOS2 Malan overgrowth syndrome MONDO:0013886 Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin). https://github.com/monarch-initiative/mondo/issues/4521 cerebellar dysfunction with variable cognitive and behavioral abnormalities nonprogressive cerebellar atxia with intellectual disability CANPMR cerebellar ataxia, nonprogressive, with intellectual disability cerebellar ataxia, nonprogressive, with mental retardation non-progressive cerebellar ataxia with intellectual disability nonprogressive cerebellar ataxia with intellectual disability nonprogressive cerebellar ataxia with mental retardation nonprogressive cerebellar atxia with intellectual disability MONDO:0013887 https://github.com/monarch-initiative/mondo/issues/4521 heterotaxy, visceral, 6, autosomal heterotaxy, visceral, 6, autosomal recessive HTX6 heterotaxy, visceral, 6, autosomal MONDO:0013888 Any essential tremor in which the cause of the disease is a mutation in the FUS gene. https://github.com/monarch-initiative/mondo/issues/4521 FUS essential tremor essential tremor caused by mutation in FUS essential tremor, hereditary, 4 tremor, hereditary essential, 4 tremor, hereditary essential, type 4 ETM4 tremor, hereditary essential, 4 MONDO:0013889 https://github.com/monarch-initiative/mondo/issues/4948 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome soph syndrome short stature with optic atrophy and Pelger-Huët anomaly syndrome short stature, optic nerve atrophy, and Pelger-Huet anomaly short stature-optic atrophy-Pelger-Huët anomaly syndrome soph short stature-optic atrophy-Pelger-HuC+t anomaly syndrome MONDO:0013890 Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients. https://github.com/monarch-initiative/mondo/issues/4521 CNM4 centronuclear myopathy 4 centronuclear myopathy type 4 myopathy, centronuclear, type 4 myopathy, centronuclear, 4 congenital myopathy with internal nuclei and atypical cores MONDO:0013891 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the PFN1 gene. ALS18 PFN1 amyotrophic lateral sclerosis amyotrophic lateral sclerosis 18 amyotrophic lateral sclerosis caused by mutation in PFN1 amyotrophic lateral sclerosis type 18 amyotrophic lateral sclerosis type 18 MONDO:0013892 Glomerulonephritis characterized by C3 accumulation with little or absent deposition of immunoglobulin, in the absence of ultrastructural electron-dense transformation seen in dense deposit disease. https://github.com/monarch-initiative/mondo/issues/4521 complement-mediated membranoproliferative glomerulonephritis nephropathy due to CFHR5 deficiency CFHR5 deficiency C3 glomerulonephritis MONDO:0013893 Any multiple sclerosis, susceptibility to in which the cause of the disease is a mutation in the TNFRSF1A gene. TNFRSF1A multiple sclerosis, susceptibility to multiple sclerosis, susceptibility to caused by mutation in TNFRSF1A multiple sclerosis, susceptibility to, 5 multiple sclerosis, susceptibility to, type 5 MS5 susceptibility to multiple sclerosis 5 multiple sclerosis, susceptibility to, 5 MONDO:0013894 soft syndrome short stature, onychodysplasia, facial dysmorphism, and hypotrichosis soft short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome MONDO:0013895 Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the RBPJ gene. https://github.com/monarch-initiative/mondo/issues/4948 Adams-Oliver syndrome 3 Adams-Oliver syndrome caused by mutation in RBPJ Adams-Oliver syndrome type 3 RBPJ Adams-Oliver syndrome AOS3 Adams-Oliver syndrome 3 MONDO:0013896 Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN3 gene. JBTS18 Joubert syndrome 18 Joubert syndrome caused by mutation in TCTN3 Joubert syndrome type 18 TCTN3 Joubert syndrome Joubert syndrome 18 MONDO:0013897 Any Loeys-Dietz syndrome in which the cause of the disease is a mutation in the TGFB2 gene. https://github.com/monarch-initiative/mondo/issues/4948 Loeys-Dietz syndrome 4 Loeys-Dietz syndrome caused by mutation in TGFB2 Loeys-Dietz syndrome type 4 TGFB2 Loeys-Dietz syndrome LDS4 aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations Loeys-Dietz syndrome 4 MONDO:0013898 Any interstitial nephritis in which the cause of the disease is a mutation in the FAN1 gene. FAN1 interstitial nephritis KMIN interstitial nephritis caused by mutation in FAN1 karyomegalic interstitial nephritis kin systemic karyomegaly interstitial nephritis, karyomegalic karyomegalic interstitial nephritis https://rarediseases.info.nih.gov/diseases/11003/karyomegalic-interstitial-nephritis MONDO:0013899 Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the LTBP2 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5787 LTBP2 Weill-Marchesani syndrome Weill-Marchesani syndrome 3 Weill-Marchesani syndrome 3, recessive Weill-Marchesani syndrome caused by mutation in LTBP2 Weill-Marchesani syndrome type 3 WMS3 Weill-Marchesani syndrome 3 MONDO:0013900 Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A3 gene. ATP1A3 alternating hemiplegia of childhood alternating hemiplegia of childhood 2 alternating hemiplegia of childhood caused by mutation in ATP1A3 alternating hemiplegia of childhood type 2 AHC2 alternating hemiplegia of childhood 2 MONDO:0013901 Any azoospermia in which the cause of the disease is a mutation in the SEPT12 gene. SEPT12 azoospermia azoospermia caused by mutation in SEPT12 spermatogenic failure 10 spermatogenic failure type 10 SPGF10 spermatogenic failure with defective sperm annulus spermatogenic failure 10 MONDO:0013902 Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene. SMAD6 aortic valve disease aortic valve disease 2 aortic valve disease caused by mutation in SMAD6 aortic valve disease type 2 AOVD2 aortic valve stenosis bicuspid aortic valve aortic valve disease 2 MONDO:0013903 NYS7 NYSTAGMUS 7, congenital, autosomal dominant nystagmus 7, congenital, autosomal dominant MONDO:0013904 Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMGNT2 gene. https://github.com/monarch-initiative/mondo/issues/4521 POMGNT2 muscular dystrophy-dystroglycanopathy, type A muscle-eye-brain-POMGNT2 related muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMGNT2 MDDGA8 Walker-Warburg syndrome or muscle-eye-brain disease, Gtdc2-related muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 MONDO:0013905 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain. GRM1 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome GRM1 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome SCAR13 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome caused by mutation in GRM1 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in GRM1 autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency autosomal recessive spinocerebellar ataxia 13 autosomal recessive spinocerebellar ataxia type 13 spinocerebellar ataxia, autosomal recessive type 13 autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency spinocerebellar ataxia, autosomal recessive 13 autosomal recessive spinocerebellar ataxia 13 MONDO:0013906 Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ODAPH gene. https://github.com/monarch-initiative/mondo/issues/4521 AI2A4 ODAPH amelogenesis imperfecta amelogenesis imperfecta caused by mutation in ODAPH amelogenesis imperfecta hypomaturation type IIA4 amelogenesis imperfecta type IIA4 amelogenesis imperfecta, type IIA4 amelogenesis imperfecta, hypomaturation type, IIA4 amelogenesis imperfecta hypomaturation type 2A4 MONDO:0013907 Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. Signs and symptoms include severe intellectual disability, problems with movement, and seizures that are difficult or impossible to treat. While the exact cause of bilateral generalized polymicrogyria is not fully understood, it is thought to be due to improper brain development during embryonic growth. Most cases appear to follow an autosomal recessive pattern of inheritance. Treatment is based on the signs and symptoms present in each person. https://github.com/monarch-initiative/mondo/issues/4521 bilateral generalized polymicrogyria microcephaly, short stature, and polymicrogyria with seizures MSSP PMGYS bilateral generalised polymicrogyria microcephaly, short stature, and polymicrogyria with or without seizures polymicrogyria with seizures bilateral generalized polymicrogyria https://rarediseases.info.nih.gov/diseases/10786/bilateral-generalized-polymicrogyria MONDO:0013908 https://github.com/monarch-initiative/mondo/issues/4882 TTPP3 thyrotoxic periodic paralysis, susceptibility to, 3 thyrotoxic periodic paralysis, susceptibility to, 3 MONDO:0013909 https://github.com/monarch-initiative/mondo/issues/4882 HHV8S HHV-8, susceptibility to HUMAN HERPESVIRUS 8, susceptibility to human herpesvirus 8, susceptibility to MONDO:0013910 Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1R gene. KISS1R hypogonadotropic hypogonadism hypogonadotropic hypogonadism 8 with or without anosmia hypogonadotropic hypogonadism caused by mutation in KISS1R HH8 hypogonadotropic hypogonadism 8 with or without anosmia MONDO:0013911 Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the NSMF gene. NSMF hypogonadotropic hypogonadism hypogonadotropic hypogonadism 9 with or without anosmia hypogonadotropic hypogonadism caused by mutation in NSMF HH9 hypogonadotropic hypogonadism 9 with or without anosmia MONDO:0013912 Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TAC3 gene. TAC3 hypogonadotropic hypogonadism hypogonadotropic hypogonadism 10 with or without anosmia hypogonadotropic hypogonadism caused by mutation in TAC3 HH10 hypogonadotropic hypogonadism 10 with or without anosmia MONDO:0013913 Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TACR3 gene. TACR3 hypogonadotropic hypogonadism hypogonadotropic hypogonadism 11 with or without anosmia hypogonadotropic hypogonadism caused by mutation in TACR3 HH11 hypogonadotropic hypogonadism 11 with or without anosmia MONDO:0013914 A hypogonadotropic hypogonadism that has material basis in homozygous mutation in the GNRH1 gene on chromosome 8p21. eunuchoidism, familial hypogonadotropic familial hypogonadotrophic eunuchoidism familial idiopathic gonadotrpin deficiency hypogonadotropic hypogonadism 12 with or without anosmia FIGD HH12 eunuchoidism familial hypogonadotropic familial hypogonadotropic eunuchoidism gonadotropin deficiency familial idiopathic gonadotropin deficiency, familial idiopathic hypogonadotropic hypogonadism 12 with or without anosmia https://rarediseases.info.nih.gov/diseases/276/eunuchoidism-familial-hypogonadotropic MONDO:0013915 Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1 gene. KISS1 hypogonadotropic hypogonadism hypogonadotropic hypogonadism 13 with or without anosmia hypogonadotropic hypogonadism caused by mutation in KISS1 HH13 hypogonadotropic hypogonadism 13 with or without anosmia MONDO:0013916 Any nephronophthisis in which the cause of the disease is a mutation in the ZNF423 gene. NPHP14 ZNF423 nephronophthisis (disease) nephronophthisis (disease) caused by mutation in ZNF423 nephronophthisis 14 nephronophthisis type 14 Joubert syndrome 19 nephronophthisis 14 MONDO:0013917 Any nephronophthisis in which the cause of the disease is a mutation in the CEP164 gene. CEP164 nephronophthisis (disease) NPHP15 nephronophthisis (disease) caused by mutation in CEP164 nephronophthisis 15 nephronophthisis type 15 nephronophthisis 15 MONDO:0013918 https://github.com/monarch-initiative/mondo/issues/3492 distal tetrasomy type 15q tetrasomy 15(q25-qter) tetrasomy 15q26 tetrasomy type 15Q26 levy-Shanske syndrome distal tetrasomy 15q MONDO:0013919 https://github.com/monarch-initiative/mondo/issues/2543 EIG12 epilepsy, idiopathic generalized, susceptibility to, 12 epilepsy, idiopathic generalized, susceptibility to, type 12 susceptibility to idiopathic generalized epilepsy 12 epilepsy, idiopathic generalized, susceptibility to, 12 MONDO:0013920 A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the TRAF3 gene. https://github.com/monarch-initiative/mondo/issues/4882 Herpes simplex encephalitis, susceptibility to, type 3 TRAF3 herpes simplex encephalitis herpes simplex encephalitis caused by mutation in TRAF3 herpes simplex encephalitis, susceptibility to, 3 IIAE5 encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 5 encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 5 encephalopathy, acute, infection-induced, susceptibility to, 5 herpes simplex encephalitis, susceptibility to, 3 MONDO:0013921 A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the TICAM1 gene. https://github.com/monarch-initiative/mondo/issues/4882 https://github.com/monarch-initiative/mondo/issues/5671 Herpes simplex encephalitis, susceptibility to, type 4 TICAM1 herpes simplex encephalitis herpes simplex encephalitis caused by mutation in TICAM1 herpes simplex encephalitis, susceptibility to, 4 IIAE6 encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 6 encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 6 encephalopathy, acute, infection-induced, susceptibility to, 6 herpes simplex encephalitis, susceptibility to, 4 MONDO:0013922 Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated. NIN Seckel syndrome SCKL7 Seckel syndrome 7 Seckel syndrome caused by mutation in NIN Seckel syndrome type 7 microcephalic primordial dwarfism, Dauber type ORDO calls this microcephalic primordial dwarfism, Dauber type Seckel syndrome 7 MONDO:0013923 Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP152 gene. CEP152 autosomal recessive primary microcephaly autosomal recessive primary microcephaly caused by mutation in CEP152 microcephaly 9, primary, autosomal recessive MCPH9 microcephaly 9, primary, autosomal recessive MONDO:0013924 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the BMP1 gene. BMP1 osteogenesis imperfecta OI13 osteogenesis imperfecta caused by mutation in BMP1 osteogenesis imperfecta type XIII OI, type 13 osteogenesis imperfecta, type 13 osteogenesis imperfecta, type XIII osteogenesis imperfecta type 13 MONDO:0013925 cblJ defects cobalamin J defect combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ methylmalonic aciduria with homocystinuria, type cblJ MAHCJ methylmalonic acidemia with homocystinuria type cblJ methylmalonic aciduria and homocystinuria, cblJ type methylmalonic acidemia with homocystinuria, type cblJ https://rarediseases.info.nih.gov/diseases/12621/methylmalonic-acidemia-with-homocystinuria-type-cblj MONDO:0013926 Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the WDR11 gene. WDR11 hypogonadotropic hypogonadism hypogonadotropic hypogonadism 14 with or without anosmia hypogonadotropic hypogonadism caused by mutation in WDR11 HH14 hypogonadotropic hypogonadism 14 with or without anosmia MONDO:0013927 https://github.com/monarch-initiative/mondo/issues/2632 peroxisome biogenesis disorder 3A (Zellweger) PBD3A peroxisome biogenesis disorder, complementation group 3 peroxisome biogenesis disorder 3A (Zellweger) MONDO:0013928 Any dystonic disorder in which the cause of the disease is a mutation in the CACNA1B gene. CACNA1B dystonic disorder DYT23 dystonia 23 dystonia type 23 dystonic disorder caused by mutation in CACNA1B adult-onset cervical dystonia, DYT23 type dystonia 23 MONDO:0013929 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TSPEAR gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB98 TSPEAR autosomal recessive nonsyndromic deafness autosomal recessive deafness 98 autosomal recessive nonsyndromic deafness 98 autosomal recessive nonsyndromic deafness caused by mutation in TSPEAR autosomal recessive nonsyndromic deafness type 98 deafness, autosomal recessive 98 deafness, autosomal recessive type 98 autosomal recessive nonsyndromic hearing loss 98 MONDO:0013930 https://github.com/monarch-initiative/mondo/issues/2632 classic peroxisome biogenesis disorder peroxisome biogenesis disorder 4A (Zellweger) PBD4A peroxisome biogenesis disorder, complementation group 4 peroxisome biogenesis disorder, complementation group 6 peroxisome biogenesis disorder, complementation group C peroxisome biogenesis disorder 4A (Zellweger) MONDO:0013931 https://github.com/monarch-initiative/mondo/issues/2632 non-classic peroxisome biogenesis disorder peroxisome biogenesis disorder 4B peroxisome biogenesis disorder type 4B PBD4B peroxisome biogenesis disorder 4B MONDO:0013932 https://github.com/monarch-initiative/mondo/issues/2632 peroxisome biogenesis disorder 5A (Zellweger) PBD5A peroxisome biogenesis disorder, complementation group 10 peroxisome biogenesis disorder, complementation group 5 peroxisome biogenesis disorder, complementation group F peroxisome biogenesis disorder 5A (Zellweger) MONDO:0013933 https://github.com/monarch-initiative/mondo/issues/2632 peroxisome biogenesis disorder 5B peroxisome biogenesis disorder type 5B PBD5B peroxisome biogenesis disorder 5B MONDO:0013934 Combined immunodeficiency due to STK4 deficiency is a rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency). https://github.com/monarch-initiative/mondo/issues/4521 Cid due to STK4 deficiency T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations Mst1 deficiency STK4 deficiency T-cell immunodeficiency, recurrent infections, and autoimmunity with or without CARDIAC malformations TIIAC combined immunodeficiency due to STK4 deficiency MONDO:0013935 Any Usher syndrome in which the cause of the disease is a mutation in the CIB2 gene. CIB2 Usher syndrome USH1J Usher syndrome caused by mutation in CIB2 Usher syndrome type Ij USHER syndrome, type Ij Usher syndrome, type 1J Usher syndrome type 1J MONDO:0013936 https://github.com/monarch-initiative/mondo/issues/2632 peroxisome biogenesis disorder 6A (Zellweger) PBD6A peroxisome biogenesis disorder, complementation group 7 peroxisome biogenesis disorder, complementation group B peroxisome biogenesis disorder 6A (Zellweger) MONDO:0013937 https://github.com/monarch-initiative/mondo/issues/2632 peroxisome biogenesis disorder 6B peroxisome biogenesis disorder type 6B PBD6B peroxisome biogenesis disorder 6B MONDO:0013938 https://github.com/monarch-initiative/mondo/issues/2632 peroxisome biogenesis disorder 7A (Zellweger) PBD7A peroxisome biogenesis disorder, complementation group 8 peroxisome biogenesis disorder, complementation group A peroxisome biogenesis disorder 7A (Zellweger) MONDO:0013939 https://github.com/monarch-initiative/mondo/issues/2632 peroxisome biogenesis disorder 7B peroxisome biogenesis disorder type 7B PBD7B peroxisome biogenesis disorder 7B MONDO:0013940 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF5 gene. CILD18 DNAAF5 primary ciliary dyskinesia ciliary dyskinesia, primary, type 18 primary ciliary dyskinesia 18 with or without situs inversus primary ciliary dyskinesia caused by mutation in DNAAF5 primary ciliary dyskinesia type 18 ciliary dyskinesia, primary, 18 ciliary dyskinesia, primary, 18, with or without situs inversus primary ciliary dyskinesia 18 MONDO:0013941 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay. https://github.com/monarch-initiative/mondo/issues/4948 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria metaphyseal Enchondrodysplasia with 2-hydroxyglutaric aciduria metaphyseal enchondromatosis with D-2-hydroxyglutaric aciduria spondyloenchondromatosis with D-2-hydroxyglutaric aciduria metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria MONDO:0013942 https://github.com/monarch-initiative/mondo/issues/2632 peroxisome biogenesis disorder 8A (Zellweger) PBD8A peroxisome biogenesis disorder, complementation group 9 peroxisome biogenesis disorder, complementation group D peroxisome biogenesis disorder 8A (Zellweger) MONDO:0013943 https://github.com/monarch-initiative/mondo/issues/2632 peroxisome biogenesis disorder 8B peroxisome biogenesis disorder type 8B PBD8B peroxisome biogenesis disorder 8B MONDO:0013944 https://github.com/monarch-initiative/mondo/issues/4521 APLAID autoinflammation, antibody deficiency, and immune dysregulation syndrome AUTOINFLAMMATION, antibody deficiency, and immune dysregulation, PLCG2-associated autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation MONDO:0013945 https://github.com/monarch-initiative/mondo/issues/2632 peroxisome biogenesis disorder 9B peroxisome biogenesis disorder type 9B PBD9B Refsum disease, adult, 2 peroxisome biogenesis disorder, PEX7-related, atypical peroxisome biogenesis disorder, complementation group 11 peroxisome biogenesis disorder, complementation group R peroxisome biogenesis disorder 9B MONDO:0013946 Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the HS6ST1 gene. HS6ST1 hypogonadotropic hypogonadism hypogonadotropic hypogonadism 15 with or without anosmia hypogonadotropic hypogonadism caused by mutation in HS6ST1 HH15 hypogonadotropic hypogonadism 15 with or without anosmia MONDO:0013947 Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared. Young adult-onset dHMN autosomal recessive distal spinal muscular atrophy type 5 dSMA5 spinal muscular atrophy, distal, autosomal recessive, type 5 DSMA5 spinal muscular atrophy, distal, autosomal recessive, 5 young adult-onset distal hereditary motor neuropathy MONDO:0013948 https://github.com/monarch-initiative/mondo/issues/2632 peroxisome biogenesis disorder 10A (Zellweger) PBD10A peroxisome biogenesis disorder, complementation group 12 peroxisome biogenesis disorder, complementation group G peroxisome biogenesis disorder 10A (Zellweger) MONDO:0013949 https://github.com/monarch-initiative/mondo/issues/2632 peroxisome biogenesis disorder 11A (Zellweger) PBD11A peroxisome biogenesis disorder, complementation group 13 peroxisome biogenesis disorder, complementation group H peroxisome biogenesis disorder 11A (Zellweger) MONDO:0013950 https://github.com/monarch-initiative/mondo/issues/2632 peroxisome biogenesis disorder 11B peroxisome biogenesis disorder type 11B PBD11B peroxisome biogenesis disorder 11B MONDO:0013951 https://github.com/monarch-initiative/mondo/issues/2632 peroxisome biogenesis disorder 12A (Zellweger) Cg14 Cgj PBD12A peroxisome biogenesis disorder, complementation group 14 peroxisome biogenesis disorder, complementation group J peroxisome biogenesis disorder 12A (Zellweger) MONDO:0013952 https://github.com/monarch-initiative/mondo/issues/2632 peroxisome biogenesis disorder 13A (Zellweger) PBD13A peroxisome biogenesis disorder, complementation group K peroxisome biogenesis disorder 13A (Zellweger) MONDO:0013953 Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IFNGR2 gene. IFNGR2 primary immunodeficiency disease immunodeficiency 28 immunodeficiency type 28 primary immunodeficiency disease caused by mutation in IFNGR2 IMD28 Ifngr2 deficiency immunodeficiency 28, Mycobacteriosis immunodeficiency 28 MONDO:0013954 Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12B gene. https://github.com/monarch-initiative/mondo/issues/4521 IL12B autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency MSMD due to complete IL12B deficiency MSMD due to complete interleukin 12B deficiency Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IL12B immunodeficiency 29, mycobacteriosis immunodeficiency type 29 IL12B deficiency IMD29 immunodeficiency 29 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency MONDO:0013955 Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12RB1 gene. IL12RB1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency MSMD due to complete IL12RB1 deficiency MSMD due to complete interleukin 12 receptor beta 1 deficiency Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IL12RB1 immunodeficiency type 30 IL-12Râ1 deficiency IL12RB1 deficiency IMD30 Mendelian susceptibility to mycobacterial infections due to IL12 deficiency immunodeficiency 30 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency MONDO:0013956 A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections. MSMD due to partial STAT1 deficiency MSMD due to partial signal transducer and activator of transcription 1 deficiency Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency STAT1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in STAT1 immunodeficiency type 31A IMD31A Stat1 deficiency, autosomal dominant immunodeficiency 31A immunodeficiency 31A, Mycobacteriosis, autosomal dominant Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency MONDO:0013957 A rare genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guerin (BCG). IRF8 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency MSMD due to partial IRF8 deficiency MSMD due to partial interferon regulatory factor 8 deficiency Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IRF8 immunodeficiency type 32A CD11c-positive/CD1c-positive Dendritic cell deficiency, autosomal dominant IMD32A IRF8 deficiency, autosomal dominant immunodeficiency 32A immunodeficiency 32A, Mycobacteriosis, autosomal dominant Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency MONDO:0013959 Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones. https://github.com/monarch-initiative/mondo/issues/4521 CMT4F Charcot-Marie-Tooth disease type 4 caused by mutation in PRX Charcot-Marie-Tooth disease type 4 caused by mutation in Prx Charcot-Marie-Tooth disease, type 4F PRX Charcot-Marie-Tooth disease type 4 Prx Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease, demyelinating, type 4F Charcot-Marie-Tooth disease type 4F https://rarediseases.info.nih.gov/diseases/12441/charcot-marie-tooth-disease-type-4f MONDO:0013960 Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress. sinoatrial node dysfunction and deafness SANDD sinoatrial node dysfunction and deafness MONDO:0013961 Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SEMA3A gene. SEMA3A hypogonadotropic hypogonadism hypogonadotropic hypogonadism 16 with or without anosmia hypogonadotropic hypogonadism caused by mutation in SEMA3A HH16 hypogonadotropic hypogonadism 16 with or without anosmia MONDO:0013962 A very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A. SPG53 VPS37A autosomal recessive complex spastic paraplegia autosomal recessive complex spastic paraplegia caused by mutation in VPS37A autosomal recessive spastic paraplegia 53 autosomal recessive spastic paraplegia type 53 hereditary spastic paraplegia 53 hereditary spastic paraplegia type 53 spastic paraplegia 53, autosomal recessive hereditary spastic paraplegia 53 MONDO:0013963 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CABP2 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 CABP2 autosomal recessive nonsyndromic deafness DFNB93 autosomal recessive deafness 93 autosomal recessive nonsyndromic deafness 93 autosomal recessive nonsyndromic deafness caused by mutation in CABP2 autosomal recessive nonsyndromic deafness type 93 deafness, autosomal recessive 93 deafness, autosomal recessive type 93 autosomal recessive nonsyndromic hearing loss 93 MONDO:0013964 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL26 gene. Diamond-Blackfan Anemia type 11 Diamond-Blackfan anemia 11 Diamond-Blackfan anemia caused by mutation in RPL26 RPL26 Diamond-Blackfan anemia DBA11 Diamond-Blackfan anemia 11 MONDO:0013965 Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the MYBPC1 gene. MYBPC1 lethal congenital contracture syndrome lethal congenital contracture syndrome 4 lethal congenital contracture syndrome caused by mutation in MYBPC1 lethal congenital contracture syndrome type 4 LCCS4 lethal congenital contracture syndrome 4 https://rarediseases.info.nih.gov/diseases/12645/lethal-congenital-contracture-syndrome-4 MONDO:0013966 Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CALM1 gene. CALM1 catecholaminergic polymorphic ventricular tachycardia CVPT4 catecholaminergic polymorphic ventricular tachycardia 4 catecholaminergic polymorphic ventricular tachycardia caused by mutation in CALM1 catecholaminergic polymorphic ventricular tachycardia type 4 ventricular tachycardia, catecholaminergic polymorphic, type 4 CPVT4 ventricular tachycardia, catecholaminergic polymorphic, 4 catecholaminergic polymorphic ventricular tachycardia 4 MONDO:0013967 https://github.com/monarch-initiative/mondo/issues/2632 PEX11B peroxisome biogenesis disorder peroxisome biogenesis disorder 14B peroxisome biogenesis disorder type 14B PEX14B peroxisome biogenesis disorder 14B MONDO:0013968 CDG syndrome type It CDG-It CDG1T PGM1-CDG PGM1-congenital disorder of glycosylation congenital disorder of glycosylation type 1t congenital disorder of glycosylation type It phosphoglucomutase-1 deficiency CDG it GSD 14 GSD type 14 GSDXIV Pgm1 deficiency congenital disorder of glycosylation, type It glycogen storage disease 14 glycogen storage disease due to phosphoglucomutase deficiency phosphoglucomutase 1 deficiency phosphoglucomutase deficiency type 1 type 14 glycogenosis PGM1-congenital disorder of glycosylation MONDO:0013969 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the RMND1 gene. COXPD11 RMND1 combined oxidative phosphorylation deficiency combined oxidative phosphorylation defect type 11 combined oxidative phosphorylation deficiency caused by mutation in RMND1 combined oxidative phosphorylation deficiency type 11 Encephaloneuromyopathy, infantile, due to mitochondrial translation defect combined oxidative phosphorylation deficiency 11 combined oxidative phosphorylation defect type 11 MONDO:0013970 A rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids. https://github.com/monarch-initiative/mondo/issues/4985 BCKDK deficiency BCKDKD autism - epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency branched-chain keto acid dehydrogenase kinase deficiency Bckdk deficiency branched-chain KETO acid dehydrogenase KINASE deficiency branched-chain keto acid dehydrogenase kinase deficiency MONDO:0013971 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward. COXPD12 EARS2 combined oxidative phosphorylation deficiency LTBL combined oxidative phosphorylation defect type 12 combined oxidative phosphorylation deficiency caused by mutation in EARS2 combined oxidative phosphorylation deficiency type 12 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome combined oxidative phosphorylation deficiency 12 leukoencephalopathy with thalamus and brainstem involvement and high lactate leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:0013972 Any Perrault syndrome in which the cause of the disease is a mutation in the HARS2 gene. HARS2 Perrault syndrome Perrault syndrome 2 Perrault syndrome caused by mutation in HARS2 Perrault syndrome type 2 PRLTS2 Perrault syndrome 2 MONDO:0013973 ECTD5 ectodermal dysplasia 5, hair/nail type ectodermal dysplasia 5, hair/nail type MONDO:0013974 ECTD6 ectodermal dysplasia 6, hair/nail type ectodermal dysplasia 6, hair/nail type MONDO:0013975 Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT74 gene. KRT74 pure hair and nail ectodermal dysplasia ectodermal dysplasia 7, hair/nail type pure hair and nail ectodermal dysplasia caused by mutation in KRT74 ECTD7 ectodermal dysplasia 7, hair/nail type MONDO:0013976 Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the HOXC13 gene. HOXC13 pure hair and nail ectodermal dysplasia ectodermal dysplasia 9, hair/nail type pure hair and nail ectodermal dysplasia caused by mutation in HOXC13 ECTD9 ectodermal dysplasia 9, hair/nail type MONDO:0013977 Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive. COXPD13 PNPT1 combined oxidative phosphorylation deficiency combined oxidative phosphorylation deficiency caused by mutation in PNPT1 combined oxidative phosphorylation deficiency type 13 combined oxidative phosphorylation deficiency 13 combined oxidative phosphorylation defect type 13 MONDO:0013978 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PNPT1 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB70 PNPT1 autosomal recessive nonsyndromic deafness autosomal recessive deafness 70 autosomal recessive nonsyndromic deafness 70 autosomal recessive nonsyndromic deafness caused by mutation in PNPT1 autosomal recessive nonsyndromic deafness type 70 deafness, autosomal recessive 70 deafness, autosomal recessive type 70 autosomal recessive nonsyndromic hearing loss 70 MONDO:0013979 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the LRRC6 gene. CILD19 LRRC6 primary ciliary dyskinesia ciliary dyskinesia, primary, type 19 primary ciliary dyskinesia 19 primary ciliary dyskinesia 19 with or without situs inversus primary ciliary dyskinesia caused by mutation in LRRC6 primary ciliary dyskinesia type 19 ciliary dyskinesia, primary, 19 ciliary dyskinesia, primary, 19, with or without situs inversus primary ciliary dyskinesia 19 MONDO:0013980 https://github.com/monarch-initiative/mondo/issues/4521 PPKP1B keratoderma, palmoplantar, punctate type IB palmoplantar keratoderma, punctate type IB palmoplantar keratoderma, punctate type ib MONDO:0013981 A rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most of cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent. familial cortical myoclonus familial myoclonus myoclonus, familial cortical FCM myoclonus, familial MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant ECTD11A ectodermal dysplasia, hypohidrotic, autosomal dominant ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive ECTD11B ectodermal dysplasia, anhidrotic ectodermal dysplasia, hypohidrotic ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive MONDO:0013984 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOGL gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB84B OTOGL autosomal recessive nonsyndromic deafness autosomal recessive deafness 84B autosomal recessive nonsyndromic deafness 84B autosomal recessive nonsyndromic deafness caused by mutation in OTOGL autosomal recessive nonsyndromic deafness type 84B deafness, autosomal recessive 84B deafness, autosomal recessive 84b deafness, autosomal recessive type 84B autosomal recessive nonsyndromic hearing loss 84B MONDO:0013985 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOG gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB18B OTOG autosomal recessive nonsyndromic deafness autosomal recessive deafness 18B autosomal recessive nonsyndromic deafness 18B autosomal recessive nonsyndromic deafness caused by mutation in OTOG autosomal recessive nonsyndromic deafness type 18B deafness, autosomal recessive 18B deafness, autosomal recessive 18b deafness, autosomal recessive type 18B autosomal recessive nonsyndromic hearing loss 18B MONDO:0013986 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the FARS2 gene. COXPD14 FARS2 combined oxidative phosphorylation deficiency combined oxidative phosphorylation deficiency caused by mutation in FARS2 combined oxidative phosphorylation deficiency type 14 combined oxidative phosphorylation deficiency 14 combined oxidative phosphorylation defect type 14 MONDO:0013987 Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported. COXPD15 MTFMT combined oxidative phosphorylation deficiency combined oxidative phosphorylation defect type 15 combined oxidative phosphorylation deficiency caused by mutation in MTFMT combined oxidative phosphorylation deficiency type 15 combined oxidative phosphorylation deficiency 15 combined oxidative phosphorylation defect type 15 MONDO:0013988 https://github.com/monarch-initiative/mondo/issues/4069 CHTD3 congenital heart defects, multiple types, 3 congenital heart defects, multiple types, with Cardiac rhythm and conduction disturbances congenital heart defects, multiple types, 3 MONDO:0013989 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNT1 gene. https://github.com/monarch-initiative/mondo/issues/4521 DEE14 EIEE14 KCNT1 early infantile epileptic encephalopathy developmental and epileptic encephalopathy 14 early infantile epileptic encephalopathy caused by mutation in KCNT1 epileptic encephalopathy, early infantile, 14 epileptic encephalopathy, early infantile, type 14 developmental and epileptic encephalopathy, 14 MONDO:0013990 A novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum. CHMP1A non-syndromic pontocerebellar hypoplasia PCH8 non-syndromic pontocerebellar hypoplasia caused by mutation in CHMP1A pontocerebellar hypoplasia due to CHMP1A mutation pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia, type 8 pontocerebellar hypoplasia type 8 MONDO:0013991 Congenital leptin deficiency is a form of monogenic obesity characterised by severe early-onset obesity and marked hyperphagia. https://github.com/monarch-initiative/mondo/issues/4521 obesity, morbid, due to leptin deficiency LEPD leptin deficiency or dysfunction obesity, morbid, nonsyndromic 1 obesity due to congenital leptin deficiency https://rarediseases.info.nih.gov/diseases/13015/obesity-due-to-congenital-leptin-deficiency MONDO:0013992 https://github.com/monarch-initiative/mondo/issues/4521 obesity due to leptin receptor gene deficiency obesity, morbid, due to leptin receptor deficiency leptin receptor deficiency obesity, morbid, nonsyndromic 2 obesity due to leptin receptor gene deficiency MONDO:0013993 Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype. PCH7 TOE1 non-syndromic pontocerebellar hypoplasia non-syndromic pontocerebellar hypoplasia caused by mutation in TOE1 pontocerebellar hypoplasia-46,XY disorder of sex development syndrome pontocerebellar hypoplasia, type 7 pontocerebellar hypoplasia type 7 MONDO:0013994 Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM231 gene. JBTS20 Joubert syndrome 20 Joubert syndrome caused by mutation in TMEM231 Joubert syndrome type 20 TMEM231 Joubert syndrome Joubert syndrome 20 MONDO:0013995 https://github.com/monarch-initiative/mondo/issues/3897 cholestasis, intrahepatic, of pregnancy 3 cholestasis, intrahepatic, of pregnancy type 3 ICP3 cholestasis, intrahepatic, of pregnancy, 3 MONDO:0013996 Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities. FFDD type II FFDD2 focal facial dermal dysplasia 2, Brauer-Setleis type Brauer-Setleis syndrome focal facial dermal dysplasia type II MONDO:0013997 Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions. FFDD type IV FFDD4 focal Facial dermal dysplasia type 4 focal facial dermal dysplasia 4 focal facial preauricular dysplasia focal facial dermal dysplasia type IV MONDO:0013998 Any Carpenter syndrome in which the cause of the disease is a mutation in the MEGF8 gene. https://github.com/monarch-initiative/mondo/issues/4948 Carpenter syndrome 2 Carpenter syndrome caused by mutation in MEGF8 Carpenter syndrome type 2 MEGF8 Carpenter syndrome CARPENTER syndrome 2 CRPT2 MEGF8-related Carpenter syndrome MONDO:0013999 Optic nerve edema-splenomegaly syndrome is a rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches. https://github.com/monarch-initiative/mondo/issues/4521 ROSAH syndrome splenomegaly, cytopenia, and vision loss optic nerve edema-splenomegaly syndrome MONDO:0014000 Any congenital heart malformation in which the cause of the disease is a mutation in the TAB2 gene. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 TAB2 congenital heart malformation congenital heart defects, multiple types, 2 congenital heart defects, nonsyndromic, 2 congenital heart malformation caused by mutation in TAB2 CHTD2 congenital heart defects, multiple types, 2 MONDO:0014001 An Usher syndrome type 1 that has material basis in variation in the chromosome region 10p11.21-q21.1. USH1K Usher syndrome type IK USHER syndrome, type IK Usher syndrome type 1K MONDO:0014002 Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the KCNT1 gene. https://github.com/monarch-initiative/mondo/issues/4521 ENFL5 KCNT1 autosomal dominant nocturnal frontal lobe epilepsy autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in KCNT1 autosomal dominant nocturnal frontal lobe epilepsy type 5 epilepsy nocturnal frontal lobe, 5 epilepsy, nocturnal frontal lobe, type 5 nocturnal frontal lobe epilepsy 5 epilepsy, nocturnal frontal lobe, 5 autosomal dominant nocturnal frontal lobe epilepsy 5 MONDO:0014003 https://github.com/monarch-initiative/mondo/issues/4521 DEE15 EIEE15 developmental and epileptic encephalopathy 15 epileptic encephalopathy, early infantile, 15 epileptic encephalopathy, early infantile, type 15 developmental and epileptic encephalopathy, 15 MONDO:0014004 basal ganglia calcification, idiopathic, 4 basal ganglia calcification, idiopathic, type 4 IBGC4 basal ganglia calcification, idiopathic, 4 MONDO:0014005 Glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation. Ig-mediated MPGN Ig-mediated membranoproliferative glomerulonephritis Immunoglobulin-mediated MPGN Mesangiocapillary glomerulonephritis type 1 immune Complex mediated membranoproliferative glomerulonephritis immunoglobulin-mediated membranoproliferative glomerulonephritis membranoproliferative glomerulonephritis type I Ahus, susceptibility to, 7 NPHS7 hemolytic uremic syndrome, atypical, susceptibility to, 7 nephrotic syndrome, type 7 nephrotic syndrome, type 7, with membranoproliferative glomerulonephritis immunoglobulin-mediated membranoproliferative glomerulonephritis MONDO:0014006 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed. https://github.com/monarch-initiative/mondo/issues/5588 MRD17 SHMS Schuurs-Hoeijmakers syndrome autosomal dominant intellectual disability 17 autosomal dominant mental retardation 17 intellectual disability, autosomal dominant type 17 intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome mental retardation, autosomal dominant type 17 PACS1-related syndrome autosomal dominant intellectual disability-17 intellectual disability, autosomal dominant 17 mental retardation, autosomal dominant 17 Schuurs-Hoeijmakers syndrome MONDO:0014007 Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the ADAR gene. ADAR Aicardi-Goutieres syndrome Adar Aicardi-Goutieres syndrome Aicardi-Goutieres syndrome 6 Aicardi-Goutieres syndrome caused by mutation in ADAR Aicardi-Goutieres syndrome caused by mutation in Adar Aicardi-Goutieres syndrome type 6 AGS6 Aicardi-Goutieres syndrome 6 MONDO:0014008 https://github.com/monarch-initiative/mondo/issues/4521 Phosphohydroxylysinuria phosphohydroxylysinuria PHLU PHOSPHOHYDROXYLYSINURIA phosphohydroxylysinuria MONDO:0014009 An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has material basis in variation in the chromosome region 12p11.2-q13.1. ARCI7 autosomal recessive congenital ichthyosis type 7 ichthyosis, congenital, autosomal recessive 7 autosomal recessive congenital ichthyosis 7 MONDO:0014010 Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CERS3 gene. https://github.com/monarch-initiative/mondo/issues/4069 ARCI9 autosomal recessive congenital ichthyosis 9 autosomal recessive congenital ichthyosis type 9 ichthyosis, congenital, autosomal recessive type 9 ichthyosis, congenital, autosomal recessive 9 autosomal recessive congenital ichthyosis 9 MONDO:0014011 Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the PNPLA1 gene. https://github.com/monarch-initiative/mondo/issues/4069 ARCI10 autosomal recessive congenital ichthyosis type 10 ichthyosis, congenital, autosomal recessive type 10 ichthyosis, congenital, autosomal recessive 10 autosomal recessive congenital ichthyosis 10 MONDO:0014012 Autosomal dominant Charcot-Marie-Tooth disease type 2Q is a rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment. CMT2Q Charcot-Marie-Tooth disease caused by mutation in DHTKD1 Charcot-Marie-Tooth neuropathy type 2Q DHTKD1 Charcot-Marie-Tooth disease autosomal dominant Charcot-Marie-Tooth disease type 2Q autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q Charcot-Marie-Tooth disease type 2Q Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Q Charcot-Marie-Tooth disease, axonal, type 2Q Charcot-Marie-Tooth neuropathy, type 2Q Charcot-Marie-Tooth disease axonal type 2Q MONDO:0014013 RBFVD riboflavin deficiency maternal riboflavin deficiency maternal riboflavin deficiency MONDO:0014014 https://github.com/monarch-initiative/mondo/issues/4499 https://github.com/monarch-initiative/mondo/issues/4521 EBS-AR exophilin 5 epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive epidermolysis bullosa simplex due to exophilin 5 deficiency EBNS epidermolysis bullosa, nonspecific, autosomal recessive epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive MONDO:0014015 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the CYP2U1 gene. CYP2U1 hereditary spastic paraplegia SPG56 autosomal recessive spastic paraplegia 56 autosomal recessive spastic paraplegia type 56 hereditary spastic paraplegia caused by mutation in CYP2U1 hereditary spastic paraplegia type 56 spastic paraplegia 56, autosomal recessive hereditary spastic paraplegia 56 MONDO:0014016 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the TECPR2 gene. https://github.com/monarch-initiative/mondo/issues/4521 SPG49 TECPR2 hereditary spastic paraplegia autosomal recessive spastic paraplegia 49 autosomal recessive spastic paraplegia type 49 hereditary spastic paraplegia 49 hereditary spastic paraplegia caused by mutation in TECPR2 hereditary spastic paraplegia type 49 neuropathy, hereditary sensory and autonomic, type IX, with developmental delay spastic paraplegia 49, autosomal recessive hereditary spastic paraplegia 49 MONDO:0014017 autism, susceptibility to, 18 autism, susceptibility to, type 18 AUTS18 susceptibility to autism 18 autism, susceptibility to, 18 MONDO:0014018 A rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2. DDHD2 autosomal recessive complex spastic paraplegia SPG54 autosomal recessive complex spastic paraplegia caused by mutation in DDHD2 autosomal recessive spastic paraplegia 54 autosomal recessive spastic paraplegia type 54 hereditary spastic paraplegia type 54 spastic paraplegia 54, autosomal recessive hereditary spastic paraplegia 54 MONDO:0014019 Any dystonic disorder in which the cause of the disease is a mutation in the ANO3 gene. ANO3 dystonic disorder DYT-ANO3 DYT24 dystonia 24 dystonia type 24 dystonic disorder caused by mutation in ANO3 cranio-cervical dystonia with laryngeal and upper-limb involvement Editor note: DO classifies as purely focal dystonia 24 MONDO:0014020 SPG55 autosomal recessive spastic paraplegia 55 autosomal recessive spastic paraplegia type 55 hereditary spastic paraplegia type 55 spastic paraplegia 55, autosomal recessive hereditary spastic paraplegia 55 MONDO:0014021 episodic pain syndrome, familial, type 1 FEPS1 episodic pain syndrome, familial, 1 familial episodic pain syndrome with predominantly upper body involvement MONDO:0014022 Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the RXYLT1 gene. RXYLT1 muscular dystrophy-dystroglycanopathy, type A muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 muscular dystrophy-dystroglycanopathy, type A caused by mutation in RXYLT1 MDDGA10 Walker-Warburg syndrome or muscle-eye-brain disease, Tmem5-related muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 MONDO:0014023 CDG syndrome type Iu CDG-Iu CDG1U CMD with intellectual disability and severe epilepsy DPM2-CDG carbohydrate deficient glycoprotein syndrome type Iu congenital disorder of glycosylation type 1u congenital disorder of glycosylation type Iu CDG Iu congenital disorder of glycosylation, type Iu congenital muscular dystrophy with intellectual disability and severe epilepsy MONDO:0014024 Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported. C19orf12 autosomal recessive complex spastic paraplegia SPG43 autosomal recessive complex spastic paraplegia caused by mutation in C19orf12 autosomal recessive spastic paraplegia 43 autosomal recessive spastic paraplegia type 43 hereditary spastic paraplegia type 43 spastic paraplegia 43, autosomal recessive hereditary spastic paraplegia 43 MONDO:0014025 SMAJ spinal muscular atrophy, Jokela type lower motor neuron syndrome with late-adult onset MONDO:0014026 Any congenital stationary night blindness in which the cause of the disease is a mutation in the LRIT3 gene. https://github.com/monarch-initiative/mondo/issues/4521 CSNB1F LRIT3 congenital stationary night blindness congenital stationary night blindness 1F autosomal recessive congenital stationary night blindness caused by mutation in LRIT3 congenital stationary night blindness type 1F night blindness, congenital stationary (complete), 1F, autosomal recessive night blindness, congenital stationary, type 1F congenital stationary night blindness 1F MONDO:0014027 Any hypotrichosis in which the cause of the disease is a mutation in the SNRPE gene. SNRPE hypotrichosis hypotrichosis 11 hypotrichosis caused by mutation in SNRPE hypotrichosis type 11 hypt11 HYPT11 hypotrichosis 11 MONDO:0014028 Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature. DA5D ECEL1 distal arthrogryposis distal arthrogryposis caused by mutation in ECEL1 distal arthrogryposis type 5 without ophthalmoparesis distal arthrogryposis type 5 without ophthalmoplegia arthrogryposis, distal, type 5D distal arthrogryposis type 5D https://rarediseases.info.nih.gov/diseases/13059/distal-arthrogryposis-type-5d MONDO:0014029 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the TMEM38B gene. https://github.com/monarch-initiative/mondo/issues/4948 OI14 TMEM38B osteogenesis imperfecta osteogenesis imperfecta caused by mutation in TMEM38B osteogenesis imperfecta type XIV OI, type 14 osteogenesis imperfecta, type 14 osteogenesis imperfecta, type XIV osteogenesis imperfecta type 14 MONDO:0014030 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC114 gene. CCDC114 primary ciliary dyskinesia CILD20 ciliary dyskinesia, primary, type 20 primary ciliary dyskinesia 20 with or without situs inversus primary ciliary dyskinesia caused by mutation in CCDC114 primary ciliary dyskinesia type 20 ciliary dyskinesia, primary, 20 ciliary dyskinesia, primary, 20, with or without situs inversus primary ciliary dyskinesia 20 MONDO:0014031 Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety. Alazami syndrome ALAZS facial dysmorphism, intellectual disability, and primordial dwarfism microcephalic primordial dwarfism, Alazami type MONDO:0014032 Any brachydactyly type A1 in which the cause of the disease is a mutation in the GDF5 gene. BDA1C GDF5 brachydactyly type A1 brachydactyly type A1 caused by mutation in GDF5 brachydactyly, type A1, C brachydactyly type A1C MONDO:0014033 Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia, characterized by cervical, laryngeal and hand-forearm dystonia. GNAL dystonic disorder dystonia 25 dystonia type 25 dystonic disorder caused by mutation in GNAL DYT25 autosomal dominant focal dystonia, DYT25 type dystonia 25 MONDO:0014034 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 GAND syndrome MRD18 autosomal dominant intellectual disability 18 autosomal dominant mental retardation 18 intellectual disability, autosomal dominant type 18 mental retardation, autosomal dominant type 18 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome GATAD2B-associated neurodevelopmental disorder autosomal dominant non-syndromic intellectual disability 18 intellectual disability, autosomal dominant 18 mental retardation, autosomal dominant 18 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome MONDO:0014035 Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability. Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity ; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 MRD19 autosomal dominant intellectual disability 19 autosomal dominant mental retardation 19 intellectual disability, autosomal dominant type 19 mental retardation, autosomal dominant type 19 neurodevelopmental disorder with spastic diplegia and visual defects severe intellectual disability-progressive spastic diplegia syndrome CTNNB1-related intellectual disability autosomal dominant non-syndromic intellectual disability 19 intellectual disability, autosomal dominant 19 mental retardation, autosomal dominant 19 severe intellectual disability-progressive spastic diplegia syndrome https://rarediseases.info.nih.gov/diseases/3505/severe-intellectual-disability-progressive-spastic-diplegia-syndrome MONDO:0014036 An Alzheimer's disease that is characterized by an associated with mutations in the gene TREM2. AD17 Alzheimer disease 17 Alzheimer disease 17, late onset Alzheimer's disease 17 Alzheimer's disease type 17 Alzheimer disease 17, late-onset Alzheimer disease 17 MONDO:0014037 Any azoospermia in which the cause of the disease is a mutation in the KLHL10 gene. KLHL10 azoospermia azoospermia caused by mutation in KLHL10 spermatogenic failure 11 spermatogenic failure type 11 SPGF11 spermatogenic failure 11 MONDO:0014038 Any colorectal cancer in which the cause of the disease is a mutation in the POLE gene. POLE colorectal cancer colorectal cancer caused by mutation in POLE colorectal cancer, susceptibility to, 12 colorectal cancer, susceptibility to, type 12 CRCS12 colorectal cancer, susceptibility to, on chromosome 12Q24 susceptibility to colorectal cancer 12 colorectal cancer, susceptibility to, 12 MONDO:0014039 Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported. MGME1 mitochondrial DNA depletion syndrome PEO-myopathy-emaciation syndrome mitochondrial DNA depletion syndrome 11 mitochondrial DNA depletion syndrome caused by mutation in MGME1 mitochondrial DNA depletion syndrome type 11 mitochondrial DNA maintenance syndrome due to MGME1 deficiency mtDNA maintenance syndrome due to MGME1 deficiency MTDPS11 progressive external ophthalmoplegia-myopathy-emaciation syndrome mitochondrial DNA depletion syndrome 11 MONDO:0014040 Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the SNX10 gene. https://github.com/monarch-initiative/mondo/issues/4948 OPTB8 SNX10 autosomal recessive malignant osteopetrosis SNX10 autosomal recessive osteopetrosis autosomal recessive malignant osteopetrosis caused by mutation in SNX10 autosomal recessive osteopetrosis caused by mutation in SNX10 autosomal recessive osteopetrosis type 8 osteopetrosis, autosomal recessive type 8 osteopetrosis, autosomal recessive 8 autosomal recessive osteopetrosis 8 MONDO:0014041 autism, susceptibility to, 19 autism, susceptibility to, type 19 AUTS19 susceptibility to autism 19 Not listed in the OMIM series but the page directs you to 209850 for the full details. autism, susceptibility to, 19 MONDO:0014042 Any left ventricular noncompaction in which the cause of the disease is a mutation in the MIB1 gene. MIB1 left ventricular noncompaction left ventricular noncompaction 7 left ventricular noncompaction caused by mutation in MIB1 left ventricular noncompaction type 7 LVNC7 left ventricular noncompaction 7 MONDO:0014043 Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur. microcephalic primordial dwarfism, Walsh type MCPH10 microcephaly 10, primary, autosomal recessive primary autosomal recessive microcephaly 10 microcephalic primordial dwarfism due to ZNF335 deficiency MONDO:0014044 A syndrome characterized by distinctive facial features, cleft palate, conductive hearing loss, and mild developmental delay. The craniofacial dysmorphism included low frontal hairline, ptosis, prominent eyes, flat midface, Cupid's bow configuration of the upper lip, and low-set, posteriorly rotated small ears. TYSHCHENKO syndrome dysmorphism-conductive hearing loss-heart defect syndrome MONDO:0014045 Any Cowden disease in which the cause of the disease is a mutation in the SDHD gene. Cowden disease caused by mutation in SDHD Cowden syndrome 3 Cowden syndrome type 3 SDHD Cowden disease CWS3 Cowden syndrome 3 MONDO:0014046 Any Cowden disease in which the cause of the disease is a mutation in the KLLN gene. Cowden disease caused by mutation in KLLN Cowden syndrome 4 Cowden syndrome type 4 KLLN Cowden disease CWS4 Cowden syndrome 4 MONDO:0014047 Any Cowden disease in which the cause of the disease is a mutation in the PIK3CA gene. Cowden disease caused by mutation in PIK3CA Cowden syndrome 5 Cowden syndrome type 5 PIK3CA Cowden disease CWS5 Cowden syndrome 5 MONDO:0014048 Any Cowden disease in which the cause of the disease is a mutation in the AKT1 gene. AKT1 Cowden disease Cowden disease caused by mutation in AKT1 Cowden syndrome 6 Cowden syndrome type 6 CWS6 Cowden syndrome 6 MONDO:0014049 Any Ochoa syndrome in which the cause of the disease is a mutation in the LRIG2 gene. LRIG2 Ochoa syndrome Ochoa syndrome caused by mutation in LRIG2 urofacial syndrome 2 urofacial syndrome type 2 UFS2 urofacial syndrome 2 MONDO:0014050 Any isolated microphthalmia in which the cause of the disease is a mutation in the ALDH1A3 gene. ALDH1A3 isolated microphthalmia MCOP8 isolated microphthalmia 8 isolated microphthalmia caused by mutation in ALDH1A3 isolated microphthalmia type 8 microphthalmia, isolated type 8 microphthalmia, isolated 8 isolated microphthalmia 8 MONDO:0014051 Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COX15 gene. https://github.com/monarch-initiative/mondo/issues/4521 COX15 fatal infantile encephalocardiomyopathy cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 2 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 fatal infantile encephalocardiomyopathy caused by mutation in COX15 mitochondrial complex IV deficiency, nuclear type 6 CEMCOX2 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 MONDO:0014052 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the AGRN gene. https://github.com/monarch-initiative/mondo/issues/4521 AGRN congenital myasthenic syndrome CMS8 congenital myasthenic syndrome 8 congenital myasthenic syndrome 8 with pre- and postsynaptic defects congenital myasthenic syndrome caused by mutation in AGRN congenital myasthenic syndrome due to agrin deficiency congenital myasthenic syndrome type 8 myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects myasthenic syndrome, congenital, type 8 myasthenic syndrome, congenital, 8 myasthenic syndrome, congenital, due to agrin deficiency myasthenic syndrome, congenital, with Pre- and postsynaptic defects congenital myasthenic syndrome 8 MONDO:0014054 Any lymphoproliferative syndrome in which the cause of the disease is a mutation in the CD27 gene. CD27 lymphoproliferative syndrome LPFS2 lymphoproliferative syndrome 2 lymphoproliferative syndrome caused by mutation in CD27 lymphoproliferative syndrome type 2 lymphoproliferative syndrome 2 MONDO:0014055 https://github.com/monarch-initiative/mondo/issues/4521 FAME4 epilepsy, myoclonic, familial adult, 4 cortical myoclonic tremor with epilepsy, familial, 4 epilepsy, familial ADULT myoclonic, 4 epilepsy, familial adult myoclonic, 4 MONDO:0014056 https://github.com/monarch-initiative/mondo/issues/4521 melanoma, cutaneous malignant, 9 melanoma, cutaneous malignant, susceptibility to, 9 melanoma, cutaneous malignant, susceptibility to, type 9 CMM9 susceptibility to cutaneous malignant melanoma 9 melanoma, cutaneous malignant, susceptibility to, 9 MONDO:0014057 maple syrup urine disease, mild variant MSUDMV maple syrup urine disease, mild variant MONDO:0014058 A rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer. fils syndrome facial dysmorphism, immunodeficiency, livedo, and short stature fils facial dysmorphism-immunodeficiency-livedo-short stature syndrome MONDO:0014059 Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the TENM3 gene. https://github.com/monarch-initiative/mondo/issues/4521 TENM3 microphthalmia, isolated, with coloboma microphthalmia, isolated, with coloboma 9 microphthalmia, isolated, with coloboma caused by mutation in TENM3 microphthalmia, isolated, with coloboma type 9 microphthalmia, syndromic 15 MCOPCB9 microphthalmia, isolated, with coloboma 9 MONDO:0014060 retinol dystrophy-iris coloboma-comedogenic acne syndrome RDCCAS retinal dystrophy, iris coloboma, and comedogenic acne syndrome progressive retinal dystrophy due to retinol transport defect MONDO:0014061 A rare genetic bone disease characterized by short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described. https://github.com/monarch-initiative/mondo/issues/4948 bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome steel syndrome STLS dislocated hips and radial heads, carpal coalition, scoliosis, and short stature Steel syndrome MONDO:0014062 mitochondrial DNA deletion syndrome with limb-girdle weakness mtDNA deletion syndrome with limb-girdle weakness mtDNA deletion syndrome with progressive myopathy progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 6 PEOA6 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 progressive external ophthalmoplegia, autosomal dominant 6 mitochondrial DNA deletion syndrome with progressive myopathy MONDO:0014063 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the TTC19 gene. MC3DN2 TTC19 mitochondrial complex III deficiency mitochondrial complex III deficiency caused by mutation in TTC19 mitochondrial complex III deficiency nuclear type 2 mitochondrial Complex 3 deficiency, nuclear type 2 mitochondrial complex III deficiency, nuclear type 2 mitochondrial complex III deficiency nuclear type 2 MONDO:0014064 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRB gene. UQCRB mitochondrial complex III deficiency mitochondrial complex III deficiency caused by mutation in UQCRB MC3DN3 mitochondrial Complex 3 deficiency, nuclear type 3 mitochondrial complex III deficiency, nuclear type 3 mitochondrial complex III deficiency nuclear type 3 MONDO:0014065 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRQ gene. UQCRQ mitochondrial complex III deficiency mitochondrial complex III deficiency caused by mutation in UQCRQ MC3DN4 mitochondrial Complex 3 deficiency, nuclear type 4 mitochondrial complex III deficiency, nuclear type 4 mitochondrial complex III deficiency nuclear type 4 MONDO:0014066 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRC2 gene. UQCRC2 mitochondrial complex III deficiency mitochondrial complex III deficiency caused by mutation in UQCRC2 MC3DN5 mitochondrial Complex 3 deficiency, nuclear type 5 mitochondrial complex III deficiency, nuclear type 5 mitochondrial complex III deficiency nuclear type 5 MONDO:0014067 https://github.com/monarch-initiative/mondo/issues/5588 MRT35 intellectual disability, autosomal recessive 35 mental retardation, autosomal recessive 35 short ulna-dysmorphism-hypotonia-intellectual disability syndrome MONDO:0014068 A cone-rod dystrophy that has material basis in variation in the chromosome region 10q26. CORD17 cone-rod dystrophy 17 cone-rod dystrophy type 17 cone-rod dystrophy 17 MONDO:0014069 Synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome Wahab syndrome WAHAB syndrome camptodactyly, clinodactyly, syndactyly, and bifid toe syndrome syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome MONDO:0014070 Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination. LRMDA oculocutaneous albinism OCA7 oculocutaneous albinism caused by mutation in LRMDA albinism, oculocutaneous, type 7 albinism, oculocutaneous, type VII oculocutaneous albinism type VII oculocutaneous albinism type 7 MONDO:0014071 Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the B3GALNT2 gene. https://github.com/monarch-initiative/mondo/issues/4521 B3GALNT2 muscular dystrophy-dystroglycanopathy, type A muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 muscular dystrophy-dystroglycanopathy, type A caused by mutation in B3GALNT2 MDDGA11 Walker-Warburg syndrome or muscle-eye-brain disease, B3Galnt2-related muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 MONDO:0014072 D,L-2-hydroxyglutaric aciduria is a rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites. D,L-2-HGA D,L-2-hydroxyglutaric acidemia D,L-2-hydroxyglutaric aciduria combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria D2L2AD combined D-2- and L-2-hydroxyglutaric aciduria D,L-2-hydroxyglutaric aciduria MONDO:0014073 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CRYAB gene. CMD1II CRYAB familial isolated dilated cardiomyopathy cardiomyopathy, dilated, type 1II dilated cardiomyopathy type 1II familial isolated dilated cardiomyopathy caused by mutation in CRYAB cardiomyopathy, dilated, 1II dilated cardiomyopathy 1II MONDO:0014074 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range. CMTDIF Charcot-Marie-Tooth disease dominant intermediate type F Charcot-Marie-Tooth disease, dominant Intermediate type F autosomal dominant intermediate Charcot-Marie-Tooth disease type F Charcot-Marie-Tooth disease, dominant intermediate F DI-CMTF GNB4-related intermediate Charcot-Marie-Tooth neuropathy Not in the OMIM series. Charcot-Marie-Tooth disease dominant intermediate F MONDO:0014075 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYGB gene. https://github.com/monarch-initiative/mondo/issues/4521 CRYGB early-onset non-syndromic cataract CTRCT39 autosomal dominant cataract 39 multiple types cataract 39, multiple types, autosomal dominant early-onset non-syndromic cataract caused by mutation in CRYGB cataract 39, multiple types cataract 39 multiple types MONDO:0014076 A dyskeratosis congenita that has material basis in an autosomal dominant mutation of RTEL1 on chromosome 20q13.33. DKCB5 dyskeratosis congenita, autosomal recessive 5 dyskeratosis congenita, autosomal recessive type 5 autosomal recessive dyskeratosis congenita 5 dyskeratosis congenita, autosomal dominant 4 dyskeratosis congenita, autosomal recessive 5 MONDO:0014077 Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures. cobblestone lissencephaly without muscular or eye involvement cobblestone lissencephaly without muscular or ocular involvement lissencephaly type 2 without muscular or eye involvement lissencephaly type 2 without muscular or ocular involvement lissencephaly type 5 LIS5 lissencephaly 5 cobblestone lissencephaly without muscular or ocular involvement MONDO:0014078 Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ACTN1 gene. ACTN1 inherited bleeding disorder, platelet-type BDPLT15 autosomal dominant macrothrombocytopenia ACTN1-related inherited bleeding disorder, platelet-type caused by mutation in ACTN1 platelet-type bleeding disorder 15 bleeding disorder, platelet-type, 15 macrothrombocytopenia, autosomal dominant, ACTN1-related platelet-type bleeding disorder 15 MONDO:0014079 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 RLS8 restless legs syndrome 8 restless legs syndrome, susceptibility to, 8 restless legs syndrome, susceptibility to, 8 MONDO:0014080 https://github.com/monarch-initiative/mondo/issues/4948 OSMD osteosclerotic metaphyseal dysplasia osteosclerotic metaphyseal dysplasia MONDO:0014081 Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections. https://github.com/monarch-initiative/mondo/issues/4521 SCID due to CARD11 deficiency immunodeficiency 11A immunodeficiency type 11 CARD11 immunodeficiency IMD11 IMD11A immunodeficiency 11 severe combined immunodeficiency due to CARD11 deficiency MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome IL21R immunodeficiency IMD56 immunodeficiency 56 cryptosporidiosis-chronic cholangitis-liver disease syndrome MONDO:0014083 Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the PIK3R1 gene. PIK3R1 autosomal agammaglobulinemia agammaglobulinemia 7, autosomal recessive autosomal agammaglobulinemia caused by mutation in PIK3R1 AGM7 agammaglobulinemia, autosomal recessive, due to PIK3R1 defect agammaglobulinemia 7, autosomal recessive MONDO:0014084 ataxia-oculomotor apraxia 3 ataxia-oculomotor apraxia type 3 AOA3 ataxia-oculomotor apraxia-3 ataxia with oculomotor apraxia type 3 MONDO:0014085 Any congenital hydrocephalus in which the cause of the disease is a mutation in the MPDZ gene. https://github.com/monarch-initiative/mondo/issues/4521 MPDZ congenital hydrocephalus congenital hydrocephalus caused by mutation in MPDZ hydrocephalus, congenital, 2, with or without brain or eye anomalies hydrocephalus, nonsyndromic, autosomal recessive 2 hydrocephalus, nonsyndromic, autosomal recessive type 2 HYC2 hydrocephalus, nonsyndromic, autosomal recessive 2 MONDO:0014086 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the WNT1 gene. https://github.com/monarch-initiative/mondo/issues/4948 OI15 WNT1 osteogenesis imperfecta osteogenesis imperfecta caused by mutation in WNT1 osteogenesis imperfecta type XV OI, type 15 osteogenesis imperfecta, type 15 osteogenesis imperfecta, type XV osteogenesis imperfecta type 15 MONDO:0014087 Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the RAB33B gene. https://github.com/monarch-initiative/mondo/issues/4948 RAB33B Smith-McCort dysplasia Smith-McCort dysplasia 2 Smith-McCort dysplasia caused by mutation in RAB33B Smith-McCort dysplasia type 2 SMITH-McCort dysplasia 2 Smc2 Smith-McCort dysplasia 2 MONDO:0014088 Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the CSNK1D gene. https://github.com/monarch-initiative/mondo/issues/4521 CSNK1D advanced sleep phase syndrome FASPS2 advanced sleep phase syndrome caused by mutation in CSNK1D advanced sleep phase syndrome type 2 advanced sleep phase syndrome, familial, type 2 advanced sleep-phase syndrome, familial, 2 familial advanced sleep phase syndrome 2 advanced sleep phase syndrome, familial, 2 advanced sleep phase syndrome 2 MONDO:0014089 MSPC palmoplantar carcinoma, multiple self-healing palmoplantar carcinoma, multiple self-healing; MSPC CIDED corneal intraepithelial dyskeratosis and ectodermal dysplasia corneal intraepithelial dyskeratosis and ectodermal dysplasia, formerly corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome MONDO:0014090 polydactyly, postaxial, type A6 PAPA6 polydactyly, postaxial, type A6 MONDO:0014091 Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the ATP5F1A gene. ATP5F1A mitochondrial complex deficiency MC5DN4 mitochondrial complex deficiency caused by mutation in ATP5F1A mitochondrial Complex 5 (ATP synthase) deficiency, ATP5A1 type mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 4 mitochondrial complex V (ATP synthase) deficiency, nuclear type 4 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 MONDO:0014092 A schizophrenia that has material basis in a mutation of SLC1A1 on chromosome 9p24.2. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 SCZD18 chromosome 7q36.3 Duplication syndrome, 362-Kb schizophrenia 18 schizophrenia susceptibility 18 schizophrenia type 18 schizoaffective disorder schizophrenia 18 with or without an affective disorder schizophrenia 18 MONDO:0014093 Any retinitis pigmentosa in which the cause of the disease is a mutation in the RBP3 gene. RBP3 retinitis pigmentosa RP66 retinitis pigmentosa 66 retinitis pigmentosa caused by mutation in RBP3 retinitis pigmentosa type 66 retinitis pigmentosa 66 MONDO:0014094 STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia except for increased erythrocyte protoporphyrin levels. https://github.com/monarch-initiative/mondo/issues/4069 anemia, hypochromic microcytic, with iron overload type 2 severe congenital hypochromic sideroblastic anemia AHMIO2 anemia, hypochromic microcytic, with iron overload 2 severe congenital hypochromic anemia with ringed sideroblasts MONDO:0014095 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the LAMA4 gene. CMD1JJ LAMA4 familial isolated dilated cardiomyopathy cardiomyopathy, dilated, type 1Jj dilated cardiomyopathy type 1JJ familial isolated dilated cardiomyopathy caused by mutation in LAMA4 cardiomyopathy, dilated, 1JJ dilated cardiomyopathy 1JJ MONDO:0014096 This syndrome is characterised by microcephaly, severe intellectual deficit, phalangeal anomalies (cutaneous syndactyly of the fingers, toe brachyclinodactyly and nail hypoplasia) and neurological manifestations (epilepsy, spastic/dystonic paraplegia and brisk reflexes). Woods-Crouchman-Huson syndrome WOODS syndrome microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome https://rarediseases.info.nih.gov/diseases/3498/microcephaly-intellectual-disability-phalangeal-and-neurological-anomalies-syndrome MONDO:0014097 Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive. CSBS congenital short bowel syndrome congenital short bowel syndrome MONDO:0014098 CIDEC-related FPLD CIDEC-related familial partial lipodystrophy FPLD5 lipodystrophy, familial partial, associated with Cidec mutations lipodystrophy, familial partial, type 5 CIDEC-related familial partial lipodystrophy MONDO:0014099 Any nephrotic syndrome in which the cause of the disease is a mutation in the ARHGDIA gene. ARHGDIA nephrotic syndrome nephrotic syndrome caused by mutation in ARHGDIA nephrotic syndrome, type 8 NPHS8 nephrotic syndrome, type 8 MONDO:0014100 Any dilated cardiomyopathy in which the cause of the disease is a mutation in the MYPN gene. https://github.com/monarch-initiative/mondo/issues/4521 CMD1KK MYPN dilated cardiomyopathy cardiomyopathy, dilated, type 1Kk cardiomyopathy, hypertrophic, 22 dilated cardiomyopathy caused by mutation in MYPN dilated cardiomyopathy type 1KK cardiomyopathy, dilated, 1KK cardiomyopathy, familial hypertrophic, 22 cardiomyopathy, familial restrictive, 4 dilated cardiomyopathy 1KK MONDO:0014101 Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMK gene. https://github.com/monarch-initiative/mondo/issues/4069 POMK muscular dystrophy-dystroglycanopathy, type A muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMK MDDGA12 Walker-Warburg syndrome or muscle-eye-brain disease, POMK-related muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 MONDO:0014102 Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SPRY4 gene. SPRY4 hypogonadotropic hypogonadism hypogonadotropic hypogonadism 17 with or without anosmia hypogonadotropic hypogonadism caused by mutation in SPRY4 HH17 hypogonadotropic hypogonadism 17 with or without anosmia MONDO:0014103 Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the IL17RD gene. https://github.com/monarch-initiative/mondo/issues/4521 IL17RD hypogonadotropic hypogonadism hypogonadotropic hypogonadism 18 with or without anosmia hypogonadotropic hypogonadism 18 with or without anosmia, Autosomal recessive, Autosomal dominant, Digenic dominant hypogonadotropic hypogonadism caused by mutation in IL17RD HH18 hypogonadotropic hypogonadism 18 with or without anosmia MONDO:0014104 Any dysequilibrium syndrome in which the cause of the disease is a mutation in the ATP8A2 gene. ATP8A2 dysequilibrium syndrome cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 4 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4 dysequilibrium syndrome caused by mutation in ATP8A2 CAMRQ4 cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 4 cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 MONDO:0014105 Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the DUSP6 gene. DUSP6 hypogonadotropic hypogonadism hypogonadotropic hypogonadism 19 with or without anosmia hypogonadotropic hypogonadism caused by mutation in DUSP6 HH19 hypogonadotropic hypogonadism 19 with or without anosmia MONDO:0014106 Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF17 gene. FGF17 hypogonadotropic hypogonadism hypogonadotropic hypogonadism 20 with or without anosmia hypogonadotropic hypogonadism caused by mutation in FGF17 HH20 hypogonadotropic hypogonadism 20 with or without anosmia MONDO:0014107 Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FLRT3 gene. https://github.com/monarch-initiative/mondo/issues/4521 FLRT3 hypogonadotropic hypogonadism hypogonadotropic hypogonadism 21 with anosmia hypogonadotropic hypogonadism 21 with or without anosmia hypogonadotropic hypogonadism caused by mutation in FLRT3 HH21 hypogonadotropic hypogonadism 21 with or without anosmia MONDO:0014108 Any Fanconi anemia in which the cause of the disease is a mutation in the ERCC4 gene. ERCC4 Fanconi anemia FANCQ Fanconi Anemia, complementation group type Q Fanconi anemia caused by mutation in ERCC4 Fanconi anemia complementation group type Q Fanconi anemia, complementation group Q Fanconi anemia complementation group Q MONDO:0014110 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the MIP gene. CTRCT15 MIP early-onset non-syndromic cataract early-onset non-syndromic cataract caused by mutation in MIP cataract 15, multiple types cataract 15 multiple types MONDO:0014111 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LIM2 gene. CTRCT19 LIM2 early-onset non-syndromic cataract cataract type 19 early-onset non-syndromic cataract caused by mutation in LIM2 cataract 19 cataract 19, multiple types cataract 19 multiple types MONDO:0014112 Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the KRAS gene. KRAS cardiofaciocutaneous syndrome cardiofaciocutaneous syndrome 2 cardiofaciocutaneous syndrome caused by mutation in KRAS cardiofaciocutaneous syndrome caused by mutation in kras cardiofaciocutaneous syndrome type 2 kras cardiofaciocutaneous syndrome CFC2 cardiofaciocutaneous syndrome 2 MONDO:0014113 Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K1 gene. MAP2K1 cardiofaciocutaneous syndrome cardiofaciocutaneous syndrome 3 cardiofaciocutaneous syndrome caused by mutation in MAP2K1 cardiofaciocutaneous syndrome type 3 CFC3 cardiofaciocutaneous syndrome 3 MONDO:0014114 Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K2 gene. MAP2K2 cardiofaciocutaneous syndrome cardiofaciocutaneous syndrome 4 cardiofaciocutaneous syndrome caused by mutation in MAP2K2 cardiofaciocutaneous syndrome type 4 CFC4 cardiofaciocutaneous syndrome 4 MONDO:0014115 HBSL aspartyl-tRNA synthetase deficiency hypomyelination with brainstem and spinal cord involvement and leg spasticity hypomyelination with brain stem and spinal cord involvement and leg spasticity MONDO:0014116 Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF5C gene. CDCBM2 KIF5C complex cortical dysplasia with other brain malformations complex cortical dysplasia with other brain malformations caused by mutation in KIF5C complex cortical dysplasia with other brain malformations type 2 cortical dysplasia, Complex, with Other brain malformations type 2 cortical dysplasia, complex, with other brain malformations 2 complex cortical dysplasia with other brain malformations 2 MONDO:0014117 Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss). CMT4B3 Charcot-Marie-Tooth disease type 4 caused by mutation in SBF1 Charcot-Marie-Tooth disease with focally folded myelin SBF1 Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease, type 4B3 Charcot-Marie-Tooth disease type 4B3 MONDO:0014118 https://github.com/monarch-initiative/mondo/issues/4069 congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome vps45 deficiency SCN5 neutropenia, severe congenital, 5, autosomal recessive congenital neutropenia-myelofibrosis-nephromegaly syndrome MONDO:0014119 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 intellectual disability, autosomal recessive type 36 mental retardation, autosomal recessive type 36 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies MRT36 intellectual disability, autosomal recessive 36 mental retardation, autosomal recessive 36 intellectual disability-strabismus syndrome MONDO:0014120 https://github.com/monarch-initiative/mondo/issues/4069 MDDGA13 Walker-Warburg syndrome or muscle-eye-brain disease, B3Gnt1-related muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 MONDO:0014121 https://github.com/monarch-initiative/mondo/issues/4521 Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures SMALED2 spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 spinal muscular atrophy, LOWER extremity-predominant, 2, autosomal dominant spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures MONDO:0014122 Any myofibromatosis in which the cause of the disease is a mutation in the NOTCH3 gene. https://github.com/monarch-initiative/mondo/issues/4521 NOTCH3 myofibromatosis myofibromatosis caused by mutation in NOTCH3 myofibromatosis, infantile 2 myofibromatosis, infantile, 2 myofibromatosis, infantile, type 2 IMF2 myofibromatosis, infantile, 2 MONDO:0014123 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DRC1 gene. CILD21 DRC1 primary ciliary dyskinesia ciliary dyskinesia, primary, type 21 primary ciliary dyskinesia 21 without situs inversus primary ciliary dyskinesia caused by mutation in DRC1 primary ciliary dyskinesia type 21 ciliary dyskinesia, primary, 21 ciliary dyskinesia, primary, 21, without situs inversus primary ciliary dyskinesia 21 MONDO:0014124 Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the EOGT gene. https://github.com/monarch-initiative/mondo/issues/4948 Adams-Oliver syndrome 4 Adams-Oliver syndrome caused by mutation in EOGT Adams-Oliver syndrome type 4 EOGT Adams-Oliver syndrome AOS4 Adams-Oliver syndrome 4 MONDO:0014125 Any proximal symphalangism in which the cause of the disease is a mutation in the GDF5 gene. GDF5 proximal symphalangism (disease) proximal symphalangism (disease) caused by mutation in GDF5 symphalangism, proximal, 1B symphalangism, proximal, type 1B SYM1B symphalangism, proximal, 1B MONDO:0014126 Any Perrault syndrome in which the cause of the disease is a mutation in the LARS2 gene. LARS2 Perrault syndrome Perrault syndrome 4 Perrault syndrome caused by mutation in LARS2 Perrault syndrome type 4 PRLTS4 Perrault syndrome 4 MONDO:0014127 Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered. OCA5 albinism, oculocutaneous, type V oculocutaneous albinism type V oculocutaneous albinism type 5 MONDO:0014128 Any syndromic craniosynostosis in which the cause of the disease is a mutation in the TCF12 gene. https://github.com/monarch-initiative/mondo/issues/2657 https://github.com/monarch-initiative/mondo/issues/4948 TCF12 craniosynostosis TCF12-related craniosynostosis craniosynostosis 3 craniosynostosis caused by mutation in TCF12 craniosynostosis type 3 CRS3 TCF12-related craniosynostosis MONDO:0014130 Any Dowling-Degos disease in which the cause of the disease is a mutation in the POFUT1 gene. Dowling-Degos disease 2 Dowling-Degos disease caused by mutation in POFUT1 Dowling-Degos disease type 2 POFUT1 Dowling-Degos disease DDD2 Dowling-Degos disease 2 MONDO:0014131 https://github.com/monarch-initiative/mondo/issues/5588 SHAHEEN syndrome SHNS hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome MONDO:0014132 Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the IBA57 gene. IBA57 deficiency IBA57 fatal multiple mitochondrial dysfunctions syndrome fatal multiple mitochondrial dysfunctions syndrome caused by mutation in IBA57 multiple mitochondrial dysfunctions syndrome 3 multiple mitochondrial dysfunctions syndrome type 3 MMDS3 multiple mitochondrial dysfunctions syndrome 3 MONDO:0014133 https://github.com/monarch-initiative/mondo/issues/4521 DEE16 EIEE16 developmental and epileptic encephalopathy 16 epileptic encephalopathy, early infantile, 16 epileptic encephalopathy, early infantile, type 16 developmental and epileptic encephalopathy, 16 MONDO:0014134 Any primary pulmonary hypertension in which the cause of the disease is a mutation in the SMAD9 gene. SMAD9 primary pulmonary hypertension primary pulmonary hypertension caused by mutation in SMAD9 pulmonary hypertension, primary, 2 pulmonary hypertension, primary, type 2 PPH2 pulmonary hypertension, primary, 2 MONDO:0014135 Any primary pulmonary hypertension in which the cause of the disease is a mutation in the CAV1 gene. CAV1 primary pulmonary hypertension primary pulmonary hypertension caused by mutation in CAV1 pulmonary hypertension, primary, 3 pulmonary hypertension, primary, type 3 PPH3 pulmonary hypertension, primary, 3 MONDO:0014136 Any primary pulmonary hypertension in which the cause of the disease is a mutation in the KCNK3 gene. KCNK3 primary pulmonary hypertension primary pulmonary hypertension caused by mutation in KCNK3 pulmonary hypertension, primary, 4 pulmonary hypertension, primary, type 4 PPH4 pulmonary hypertension, primary, 4 MONDO:0014137 Any central precocious puberty in which the cause of the disease is a mutation in the MKRN3 gene. MKRN3 central precocious puberty central precocious puberty caused by mutation in MKRN3 precocious puberty, central, 2 precocious puberty, central, type 2 CPPB2 precocious puberty, central, 2 MONDO:0014138 An autosomal recessive myopathy caused by mutations in the KLHL40 gene, encoding Kelch-like protein 40. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, and typically involves proximal muscles, the face, bulbar and respiratory muscles. KLHL40 nemaline myopathy NEM8 nemaline myopathy 8 nemaline myopathy 8, autosomal recessive nemaline myopathy caused by mutation in KLHL40 nemaline myopathy type 8 nemaline myopathy 8 MONDO:0014139 Any Ehlers-Danlos syndrome, spondylodysplastic type in which the cause of the disease is a mutation in the B3GALT6 gene. B3GALT6 Ehlers-Danlos syndrome progeroid type B3GALT6-related spEDS B3GALT6-related spondylodysplastic EDS Beta3GalT6-deficient EDS EDSP2 EDSSPD2 Ehlers-Danlos syndrome progeroid type 2 Ehlers-Danlos syndrome progeroid type caused by mutation in B3GALT6 Ehlers-Danlos syndrome, progeroid type, 2 Ehlers-Danlos syndrome, spondylodysplastic type, 2 spEDS-B3GALT6 Ehlers-Danlos syndrome, progeroid type, 2, formerly Ehlers-Danlos syndrome, spondylodysplastic type, 2 MONDO:0014140 https://github.com/monarch-initiative/mondo/issues/4069 muscle-eye-brain-GMPPB related MDDGA14 Walker-Warburg syndrome or muscle-eye-brain disease, GMPPB-related muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 MONDO:0014141 https://github.com/monarch-initiative/mondo/issues/4069 congenital muscular dystrophy-GMPPB related MDDGB14 muscular dystrophy, congenital, GMPPB-related muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 14 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 MONDO:0014142 Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency. GMPPB autosomal recessive limb-girdle muscular dystrophy LGMD-GMPPB related LGMD2T MDDGC14 autosomal recessive limb-girdle muscular dystrophy caused by mutation in GMPPB muscular dystrophy limb-girdle type 2T muscular dystrophy-dystroglycanopathy (limb-girdle) type C14 muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related limb-girdle muscular dystrophy type 2T muscular dystrophy, limb-girdle, type 2T muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 muscular dystrophy-dystroglycanopathy, limb-girdle, GMPPB-related autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014143 Any Noonan syndrome in which the cause of the disease is a mutation in the RIT1 gene. NS8 Noonan syndrome 8 Noonan syndrome caused by mutation in RIT1 Noonan syndrome type 8 RIT1 Noonan syndrome Noonan syndrome 8 MONDO:0014144 A form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures. https://github.com/monarch-initiative/mondo/issues/4521 LGMD2S TRAPPC11 autosomal recessive limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRAPPC11 autosomal recessive limb-girdle muscular dystrophy type 2S muscular dystrophy, limb-girdle, autosomal recessive 18 muscular dystrophy, limb-girdle, type 2S limb-girdle muscular dystrophy type 2S autosomal recessive limb-girdle muscular dystrophy type R18 MONDO:0014145 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GDF6 gene. https://github.com/monarch-initiative/mondo/issues/4069 GDF6 Leber congenital amaurosis LCA17 Leber congenital amaurosis 17 Leber congenital amaurosis caused by mutation in GDF6 Leber congenital amaurosis type 17 Leber congenital amaurosis 17 MONDO:0014146 An autosomal dominant hypocalcemia disease that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13. HYPOC2 autosomal dominant hypocalcemia type 2 hypocalcemia, autosomal dominant type 2 hypocalcemia, autosomal dominant 2 autosomal dominant hypocalcemia 2 MONDO:0014147 Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CTSF gene. https://github.com/monarch-initiative/mondo/issues/4521 CLN13 CTSF neuronal ceroid lipofuscinosis ceroid lipofuscinosis, neuronal, 13 (Kufs type) ceroid lipofuscinosis, neuronal, type 13 neuronal ceroid lipofuscinosis 13 Kufs type neuronal ceroid lipofuscinosis caused by mutation in CTSF neuronal ceroid lipofuscinosis type 13 CLN13 disease ceroid lipofuscinosis, neuronal, 13 ceroid lipofuscinosis, neuronal, 13, Kufs type neuronal ceroid lipofuscinosis 13 MONDO:0014148 Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present. ESTRR estrogen insensitivity estrogen resistance estrogen resistance syndrome MONDO:0014149 Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate. lethal congenital contracture syndrome type 5 LCCS5 lethal congenital contracture syndrome 5 myopathy, centronuclear, lethal, autosomal recessive fetal akinesia-cerebral and retinal hemorrhage syndrome MONDO:0014150 An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability. DEE94 EEOC childhood onset epileptic encephalopathy developmental and epileptic encephalopathy 94 CHCHD10-related disorders CHD2 myoclonic encephalopathy childhood-onset epileptic encephalopathy epileptic encephalopathy, childhood-onset developmental and epileptic encephalopathy 94 MONDO:0014151 https://github.com/monarch-initiative/mondo/issues/5530 pulmonary hypertension, neonatal, susceptibility to PHN susceptibility to neonatal pulmonary hypertension pulmonary hypertension, neonatal, susceptibility to MONDO:0014152 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PRDM16 gene. PRDM16 familial isolated dilated cardiomyopathy familial isolated dilated cardiomyopathy caused by mutation in PRDM16 left ventricular noncompaction 8 left ventricular noncompaction type 8 LVNC8 cardiomyopathy, dilated, 1Ll This appears in the series 115200 because of an included entity. left ventricular noncompaction 8 MONDO:0014153 Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAB28 gene. CORD18 RAB28 cone-rod dystrophy cone-rod dystrophy 18 cone-rod dystrophy caused by mutation in RAB28 cone-rod dystrophy type 18 cone-rod dystrophy 18 MONDO:0014154 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C is a rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy. CMTRIC Charcot-Marie-Tooth disease caused by mutation in PLEKHG5 Charcot-Marie-Tooth disease recessive intermediate type C Charcot-Marie-Tooth disease, recessive Intermediate type C PLEKHG5 Charcot-Marie-Tooth disease RI-CMT type C RI-CMTC autosomal recessive intermediate Charcot-Marie-Tooth disease type C Charcot-Marie-Tooth disease, recessive intermediate C Charcot-Marie-Tooth neuropathy, recessive Intermediate C Charcot-Marie-Tooth disease recessive intermediate C MONDO:0014155 Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN1B gene. SCN1B familial atrial fibrillation atrial fibrillation, familial, 13 atrial fibrillation, familial, type 13 familial atrial fibrillation caused by mutation in SCN1B ATFB13 atrial fibrillation, familial, 13 MONDO:0014156 Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN2B gene. SCN2B familial atrial fibrillation atrial fibrillation, familial, 14 atrial fibrillation, familial, type 14 familial atrial fibrillation caused by mutation in SCN2B ATFB14 atrial fibrillation, familial, 14 MONDO:0014157 MDP syndrome mandibular hypoplasia-hearing loss-progeroid syndrome MDPL mandibular hypoplasia, deafness, progeroid features mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome mandibular hypoplasia-deafness-progeroid syndrome MONDO:0014158 Any nephronophthisis in which the cause of the disease is a mutation in the ANKS6 gene. ANKS6 nephronophthisis (disease) NPHP16 nephronophthisis (disease) caused by mutation in ANKS6 nephronophthisis 16 nephronophthisis type 16 autosomal recessive infantile NPHP autosomal recessive infantile nephronophthisis infantile nephronophthisis nephronophthisis 16 MONDO:0014159 Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement). Ataxie spinocérébelleuse à début infantile avec retard psychomoteur SCAR14 SPARCA SPARCA1 SPTBN2 autosomal recessive cerebellar ataxia autosomal recessive cerebellar ataxia caused by mutation in SPTBN2 autosomal recessive cerebellar ataxia-cognitive defect syndrome autosomal recessive spinocerebellar ataxia type 14 infantile-onset spinocerebellar ataxia-psychomotor delay syndrome spectrin-associated autosomal recessive cerebellar ataxia type 1 spinocerebellar ataxia, autosomal recessive type 14 cerebellar ataxia, autosomal recessive, spectrin-associated, 1 spectrin-associated autosomal recessive cerebellar ataxia spinocerebellar ataxia, autosomal recessive 14 autosomal recessive spinocerebellar ataxia 14 MONDO:0014160 A non-severe combined immunodeficiency disorder manifesting with recurrent respiratory infections, candidiasis, diarrhea, and failure to thrive. Patients show a clear predisposition to herpes viral infections, and features of immune dysregulation, including hypereosinophilia, vitiligo, and alopecia areata. Other features include lymphadenopathy and hepatosplenomegaly. CD3+ T-cells express TCR- gamma|delta, but little or no TCR-alpha|beta. IMD7 TCR-alpha-beta+ T-cell deficiency immunodeficiency 7, TCR-alpha/beta deficient T-cell receptor-ALPHA/BETA deficiency TCR-Alpha/Beta deficiency immunodeficiency 7 TCR-alpha-beta-positive T-cell deficiency MONDO:0014161 VUR7 vesicoureteral reflux 7 vesicoureteral reflux 7 MONDO:0014162 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life. COXPD16 MRPL44 combined oxidative phosphorylation deficiency combined oxidative phosphorylation defect type 16 combined oxidative phosphorylation deficiency caused by mutation in MRPL44 combined oxidative phosphorylation deficiency type 16 combined oxidative phosphorylation deficiency 16 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency MONDO:0014163 Any left ventricular noncompaction in which the cause of the disease is a mutation in the MYBPC3 gene. MYBPC3 left ventricular noncompaction left ventricular noncompaction 10 left ventricular noncompaction caused by mutation in MYBPC3 left ventricular noncompaction type 10 LVNC10 cardiomyopathy, dilated, 1Mm left ventricular noncompaction 10 MONDO:0014164 Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM231 gene. https://github.com/monarch-initiative/mondo/issues/4521 Meckel syndrome caused by mutation in TMEM231 Meckel syndrome, type 11 TMEM231 Meckel syndrome meckel syndrome 11 MKS11 Meckel syndrome, type 11 MONDO:0014165 Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome is a rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase. https://github.com/monarch-initiative/mondo/issues/5588 MCAHS type 3 PIGT multiple congenital anomalies/dysmorphic syndrome-intellectual disability PIGT-CDG congenital disorder of glycosylation due to PIGT deficiency multiple congenital anomalies-hypotonia-seizures syndrome 3 multiple congenital anomalies-hypotonia-seizures syndrome type 3 multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGT MCAHS3 glycosylphosphatidylinositol biosynthesis defect 7 intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome multiple congenital anomalies-hypotonia-seizures syndrome 3 MONDO:0014166 Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGT gene. https://github.com/monarch-initiative/mondo/issues/4521 PIGT paroxysmal nocturnal hemoglobinuria paroxysmal nocturnal hemoglobinuria 2 paroxysmal nocturnal hemoglobinuria 2, autosomal dominant, somatic mutation paroxysmal nocturnal hemoglobinuria caused by mutation in PIGT paroxysmal nocturnal hemoglobinuria type 2 PNH2 paroxysmal nocturnal hemoglobinuria 2 MONDO:0014167 Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the CNTN2 gene. https://github.com/monarch-initiative/mondo/issues/4521 CNTN2 epilepsy, familial adult myoclonic epilepsy, familial adult myoclonic caused by mutation in CNTN2 epilepsy, familial adult myoclonic, 5 epilepsy, familial adult myoclonic, type 5 epilepsy, myoclonic, familial adult, 5 FAME5 cortical myoclonic tremor with epilepsy, familial, 5 epilepsy, familial ADULT myoclonic, 5 epilepsy, familial adult myoclonic, 5 MONDO:0014168 SCID due to CORO1A deficiency SCID due to coronin-1A deficiency coronin-1A deficiency immunodeficiency type 8 severe combined immunodeficiency due to CORO1A deficiency severe combined immunodeficiency due to coronin-1A deficiency IMD8 immunodeficiency 8 severe combined immunodeficiency due to CORO1A deficiency MONDO:0014169 Any dyschromatosis universalis hereditaria in which the cause of the disease is a mutation in the ABCB6 gene. ABCB6 dyschromatosis universalis hereditaria dyschromatosis universalis hereditaria 3 dyschromatosis universalis hereditaria caused by mutation in ABCB6 dyschromatosis universalis hereditaria type 3 DUH3 dyschromatosis universalis hereditaria 3 MONDO:0014170 Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF2A gene. CDCBM3 KIF2A complex cortical dysplasia with other brain malformations complex cortical dysplasia with other brain malformations caused by mutation in KIF2A complex cortical dysplasia with other brain malformations type 3 cortical dysplasia, Complex, with Other brain malformations type 3 cortical dysplasia, complex, with other brain malformations 3 complex cortical dysplasia with other brain malformations 3 MONDO:0014171 Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBG1 gene. CDCBM4 TUBG1 complex cortical dysplasia with other brain malformations complex cortical dysplasia with other brain malformations caused by mutation in TUBG1 complex cortical dysplasia with other brain malformations type 4 cortical dysplasia, Complex, with Other brain malformations type 4 cortical dysplasia, complex, with other brain malformations 4 complex cortical dysplasia with other brain malformations 4 MONDO:0014172 Any azoospermia in which the cause of the disease is a mutation in the NANOS1 gene. NANOS1 azoospermia azoospermia caused by mutation in NANOS1 spermatogenic failure 12 spermatogenic failure type 12 SPGF12 spermatogenic failure 12 MONDO:0014173 Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the PHC1 gene. PHC1 autosomal recessive primary microcephaly autosomal recessive primary microcephaly caused by mutation in PHC1 microcephaly 11, primary, autosomal recessive MCPH11 microcephaly 11, primary, autosomal recessive MONDO:0014174 Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NEK8 gene. NEK8 renal-hepatic-pancreatic dysplasia renal-hepatic-pancreatic dysplasia 2 renal-hepatic-pancreatic dysplasia caused by mutation in NEK8 renal-hepatic-pancreatic dysplasia type 2 RHPD2 renal-hepatic-pancreatic dysplasia 2 MONDO:0014175 An inherited condition caused by mutation(s) in the SLC25A4 gene, encoding ADP/ATP translocase 1. It is characterized by hypertrophic cardiomyopathy. https://github.com/monarch-initiative/mondo/issues/4521 MTDPS12B mitochondrial DNA depletion syndrome 12 mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), AR mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive MTDPS12 mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) mitochondrial DNA depletion syndrome type 12 mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive MONDO:0014176 A rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip). https://github.com/monarch-initiative/mondo/issues/5588 IHPRF IHPRF syndrome hypotonia, infantile, with psychomotor retardation and characteristic facies hypotonia-speech impairment-severe cognitive delay syndrome infantile hypotonia-psychomotor retardation-characteristic facies syndrome hypotonia, infantile, with psychomotor retardation and characteristic facies MONDO:0014177 myopia 22, autosomal dominant MYP22 myopia 22, autosomal dominant MONDO:0014178 Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA2B1 gene. HNRNPA2B1 inclusion body myopathy with Paget disease of bone and frontotemporal dementia inclusion body myopathy with Paget disease of bone and frontotemporal dementia caused by mutation in HNRNPA2B1 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 2 IBMPFD2 multisystem Proteinopathy 2 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 MONDO:0014179 Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA1 gene. https://github.com/monarch-initiative/mondo/issues/4521 HNRNPA1 inclusion body myopathy with Paget disease of bone and frontotemporal dementia inclusion body myopathy with Paget disease of bone and frontotemporal dementia caused by mutation in HNRNPA1 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 3 inclusion body myopathy with early-onset paget disease without frontotemporal dementia 3 IBMPFD3 multisystem Proteinopathy 3 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 MONDO:0014180 https://github.com/monarch-initiative/mondo/issues/4499 https://github.com/monarch-initiative/mondo/issues/4521 DST-related epidermolysis bullosa simplex EBS-AR BP230 epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency epidermolysis bullosa simplex due to BP230 deficiency epidermolysis bullosa simplex, autosomal recessive type 2 EBSB2 epidermolysis bullosa simplex, autosomal recessive 2 epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency MONDO:0014181 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the HNRNPA1 gene. ALS20 HNRNPA1 amyotrophic lateral sclerosis amyotrophic lateral sclerosis 20 amyotrophic lateral sclerosis caused by mutation in HNRNPA1 amyotrophic lateral sclerosis type 20 amyotrophic lateral sclerosis type 20 MONDO:0014182 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ELMOD3 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB88 ELMOD3 autosomal recessive nonsyndromic deafness autosomal recessive deafness 88 autosomal recessive nonsyndromic deafness 88 autosomal recessive nonsyndromic deafness caused by mutation in ELMOD3 autosomal recessive nonsyndromic deafness type 88 deafness, autosomal recessive 88 deafness, autosomal recessive type 88 autosomal recessive nonsyndromic hearing loss 88 MONDO:0014183 myopia 23, autosomal recessive MYP23 myopia 23, autosomal recessive MONDO:0014184 A communication disorder that involves the processing of linguistic information. SLI5 specific language impairment 5 specific language impairment type 5 specific language impairment 5 MONDO:0014185 3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicantic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present. https://github.com/monarch-initiative/mondo/issues/3664 3q13 microdeletion syndrome Del(3)(q13) chromosome 3q13.31 deletion syndrome monosomy 3q13 chromosome 3q13.31 deletion syndrome MONDO:0014186 Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL2BP gene. ARL2BP retinitis pigmentosa retinitis pigmentosa caused by mutation in ARL2BP retinitis pigmentosa with or without situs inversus retinitis pigmentosa with or without situs inversus MONDO:0014187 Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the PRKG1 gene. PRKG1 familial thoracic aortic aneurysm and aortic dissection aortic aneurysm, familial thoracic 8 aortic aneurysm, familial thoracic type 8 familial thoracic aortic aneurysm and aortic dissection caused by mutation in PRKG1 AAT8 aortic aneurysm, familial thoracic 8 MONDO:0014189 An inherited susceptibility or predisposition to developing age related macular degeneration in which the cause of the disease is a mutation in the CFI gene. https://github.com/monarch-initiative/mondo/issues/4521 ARMD13 CFI age-related macular degeneration age related macular degeneration type 13 age-related macular degeneration caused by mutation in CFI macular Degeneration, age-related, type 13 macular degeneration, age-related, 13, susceptibility to macular degeneration, age-related, 13 age related macular degeneration 13 MONDO:0014190 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the ELAC2 gene. COXPD17 ELAC2 combined oxidative phosphorylation deficiency combined oxidative phosphorylation deficiency caused by mutation in ELAC2 combined oxidative phosphorylation deficiency type 17 combined oxidative phosphorylation deficiency 17 combined oxidative phosphorylation defect type 17 MONDO:0014191 Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TRDN gene. https://github.com/monarch-initiative/mondo/issues/4521 CVPT5 TRDN catecholaminergic polymorphic ventricular tachycardia cardiac arrhythmia syndrome, with or without skeletal muscle weakness catecholaminergic polymorphic ventricular tachycardia 5 catecholaminergic polymorphic ventricular tachycardia caused by mutation in TRDN catecholaminergic polymorphic ventricular tachycardia type 5 CPVT5 ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness catecholaminergic polymorphic ventricular tachycardia 5 MONDO:0014192 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ZMYND10 gene. CILD22 ZMYND10 primary ciliary dyskinesia ciliary dyskinesia, primary, type 22 primary ciliary dyskinesia 22 with or without situs inversus primary ciliary dyskinesia caused by mutation in ZMYND10 primary ciliary dyskinesia type 22 ciliary dyskinesia, primary, 22 ciliary dyskinesia, primary, 22, with or without situs inversus primary ciliary dyskinesia 22 MONDO:0014193 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ARMC4 gene. ARMC4 primary ciliary dyskinesia CILD23 ciliary dyskinesia, primary, type 23 primary ciliary dyskinesia 23 with or without situs inversus primary ciliary dyskinesia caused by mutation in ARMC4 primary ciliary dyskinesia type 23 ciliary dyskinesia, primary, 23 ciliary dyskinesia, primary, 23, with or without situs inversus primary ciliary dyskinesia 23 MONDO:0014194 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the CYC1 gene. CYC1 mitochondrial complex III deficiency mitochondrial complex III deficiency caused by mutation in CYC1 MC3DN6 mitochondrial Complex 3 deficiency, nuclear type 6 mitochondrial complex III deficiency, nuclear type 6 mitochondrial complex III deficiency nuclear type 6 MONDO:0014195 MMCAT syndrome microcornea-myopic chorioretinal atrophy microcornea-myopic chorioretinal atrophy-telecanthus syndrome MMCAT microcornea, myopic chorioretinal atrophy, and telecanthus microcornea-myopic chorioretinal atrophy MONDO:0014196 https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5588 Hartsfield-Bixler-Demyer syndrome holoprosencephaly-ectrodactyly-cleft lip palate syndrome holoprosencephaly-ectrodactyly-cleft lip/palate syndrome HARTSFIELD syndrome HRTFDS holoprosencephaly, ectrodactyly, and bilateral cleft Lip/palate Hartsfield-Bixler-Demyer syndrome MONDO:0014197 Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections. combined immunodeficiency due to MALT1 deficiency immunodeficiency type 12 IMD12 immunodeficiency 12 combined immunodeficiency due to MALT1 deficiency MONDO:0014198 Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the FBXL4 gene. FBXL4 mitochondrial DNA depletion syndrome mitochondrial DNA depletion syndrome caused by mutation in FBXL4 mitochondrial DNA depletion syndrome type 13 mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies BXL4-related early-onset mitochondrial encephalopathy FBXL4 deficiency FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome MTDPS13 encephalomyopathic mitochondrial DNA depletion syndrome-13 mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies mitochondrial DNA depletion syndrome 13 MONDO:0014199 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GNAO1 gene. https://github.com/monarch-initiative/mondo/issues/4521 DEE17 EIEE17 GNAO1 early infantile epileptic encephalopathy developmental and epileptic encephalopathy 17 early infantile epileptic encephalopathy caused by mutation in GNAO1 early infantile epileptic encephalopathy-17 epileptic encephalopathy, early infantile, 17 epileptic encephalopathy, early infantile, type 17 GNAO1 encephalopathy developmental and epileptic encephalopathy, 17 MONDO:0014200 APA with seizures and neurological abnormalities Conn adenoma with seizures and neurological abnormalities aldosterone-secreting adenoma with seizures and neurological abnormalities primary aldosteronism, seizures, and neurologic abnormalities Conn adenoma PASNA aldosterone-secreting adenoma aldosteronoma primary aldosteronism due to Conn adenoma aldosterone-producing adenoma with seizures and neurological abnormalities MONDO:0014201 https://github.com/monarch-initiative/mondo/issues/4521 DEE18 EIEE18 developmental and epileptic encephalopathy 18 early infantile epileptic encephalopathy without suppression burst epileptic encephalopathy, early infantile, 18 epileptic encephalopathy, early infantile, type 18 developmental and epileptic encephalopathy, 18 MONDO:0014202 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH1 gene. CILD24 RSPH1 primary ciliary dyskinesia ciliary dyskinesia, primary, type 24 primary ciliary dyskinesia 24 primary ciliary dyskinesia 24 without situs inversus primary ciliary dyskinesia caused by mutation in RSPH1 primary ciliary dyskinesia type 24 ciliary dyskinesia, primary, 24 ciliary dyskinesia, primary, 24, without situs inversus primary ciliary dyskinesia 24 MONDO:0014203 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF4 gene. CILD25 DNAAF4 primary ciliary dyskinesia ciliary dyskinesia, primary, type 25 primary ciliary dyskinesia 25 with or without situs inversus primary ciliary dyskinesia caused by mutation in DNAAF4 primary ciliary dyskinesia type 25 ciliary dyskinesia, primary, 25 ciliary dyskinesia, primary, 25, with or without situs inversus primary ciliary dyskinesia 25 MONDO:0014204 basal ganglia calcification, idiopathic, 5 basal ganglia calcification, idiopathic, type 5 IBGC5 basal ganglia calcification, idiopathic, 5 MONDO:0014205 https://github.com/monarch-initiative/mondo/issues/5588 Bainbridge-Roppers syndrome severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome BAINBRIDGE-ROPERS syndrome BRPS severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome MONDO:0014206 https://github.com/monarch-initiative/mondo/issues/2420 PAP, Reunion island type hereditary pulmonary alveolar proteinosis with hepatic involvement interstitial lung and liver disease pulmonary alveolar proteinosis, Reunion island type ILLD infantile liver failure syndrome 2 infantile liver failure syndrome 2, formerly pulmonary alveolar proteinosis, Reunion Island severe early-onset pulmonary alveolar proteinosis due to MARS deficiency MONDO:0014207 An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21. https://github.com/monarch-initiative/mondo/issues/4521 ARMD14 age related macular degeneration type 14 macular Degeneration, age-related, type 14 macular degeneration, age-related, 14, reduced risk of, digenic dominant macular Degeneration, age-related, reduced risk of macular degeneration, age-related, 14 age related macular degeneration 14 MONDO:0014208 Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the TRIM2 gene. https://github.com/monarch-initiative/mondo/issues/4521 CMT2R Charcot-Marie-Tooth disease type 2 caused by mutation in TRIM2 Charcot-Marie-Tooth disease type 2R Charcot-Marie-Tooth disease, type 2R Charcot-Marie-Tooth neuropathy type 2R TRIM2 Charcot-Marie-Tooth disease type 2 autosomal recessive axonal Charcot-Marie-Tooth disease type 2R Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2R Charcot-Marie-Tooth disease, axonal, type 2R Charcot-Marie-Tooth neuropathy, type 2R Charcot-Marie-Tooth disease type 2R https://rarediseases.info.nih.gov/diseases/12451/charcot-marie-tooth-disease-type-2r MONDO:0014209 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis. NDGOA SPG79 neurodegeneration with optic atrophy, childhood-onset spastic paraplegia 79, autosomal recessive early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome MONDO:0014210 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 intellectual disability, autosomal recessive type 37 mental retardation, autosomal recessive type 37 mental retardation, autosomal recessive, 37 MRT37 intellectual disability, autosomal recessive 37 mental retardation, autosomal recessive 37 intellectual disability-hypotonia-spasticity-sleep disorder syndrome MONDO:0014211 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CFAP298 gene. CFAP298 primary ciliary dyskinesia CILD26 ciliary dyskinesia, primary, type 26 primary ciliary dyskinesia 26 with or without situs inversus primary ciliary dyskinesia caused by mutation in CFAP298 primary ciliary dyskinesia type 26 ciliary dyskinesia, primary, 26 ciliary dyskinesia, primary, 26, with or without situs inversus primary ciliary dyskinesia 26 MONDO:0014212 A molybdenum cofactor deficiency that has material basis in homozygous mutation in the GPHN gene on chromosome 14q23. https://github.com/monarch-initiative/mondo/issues/4521 MOCOD type C MOCODC combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C molybdenum cofactor deficiency C molybdenum cofactor deficiency complementation group C molybdenum cofactor deficiency, complementation group type C molybdenum cofactor deficiency type C molybdenum cofactor deficiency, complementation group C sulfite oxidase deficiency due to molybdenum cofactor deficiency type C MONDO:0014213 https://github.com/monarch-initiative/mondo/issues/5588 MRD21 autosomal dominant intellectual disability 21 autosomal dominant mental retardation 21 intellectual disability, autosomal dominant type 21 mental retardation, autosomal dominant type 21 autosomal dominant non-syndromic intellectual disability 21 intellectual disability, autosomal dominant 21 mental retardation, autosomal dominant 21 intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome MONDO:0014214 An asphyxiating thoracic dystrophy that has material basis in compound heterozygous mutation in the WDR60 gene on chromosome 7q36. SRPS6 SRTD8 short rib-polydactyly syndrome type VI short-rib thoracic dysplasia 8 with or without polydactyly short rib-polydactyly syndrome, type 6 short-rib thoracic dysplasia 8 with or without polydactyly MONDO:0014215 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC65 gene. CCDC65 primary ciliary dyskinesia CILD27 ciliary dyskinesia, primary, type 27 primary ciliary dyskinesia 27 without situs inversus primary ciliary dyskinesia caused by mutation in CCDC65 primary ciliary dyskinesia type 27 ciliary dyskinesia, primary, 27 ciliary dyskinesia, primary, 27, without situs inversus primary ciliary dyskinesia 27 MONDO:0014216 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the SPAG1 gene. CILD28 SPAG1 primary ciliary dyskinesia ciliary dyskinesia, primary, type 28 primary ciliary dyskinesia 28 with or without situs inversus primary ciliary dyskinesia caused by mutation in SPAG1 primary ciliary dyskinesia type 28 ciliary dyskinesia, primary, 28 ciliary dyskinesia, primary, 28, with or without situs inversus primary ciliary dyskinesia 28 MONDO:0014217 Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the GDF2 gene. GDF2 hereditary hemorrhagic telangiectasia hereditary hemorrhagic telangiectasia caused by mutation in GDF2 telangiectasia, hereditary hemorrhagic, type 5 HHT5 telangiectasia, hereditary hemorrhagic, type 5 MONDO:0014218 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5682 SAM syndrome congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE EPKHE Sam syndrome erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-IgE severe dermatitis, multiple allergies, and metabolic wasting syndrome severe dermatitis-multiple allergies-metabolic wasting syndrome MONDO:0014219 alacrima, achalasia, and intellectual disability syndrome alacrima, achalasia, and mental retardation syndrome AAMR GMPPA-CDG alacrima, achalasia, and intellectual disability syndrome MONDO:0014220 myopathy due to myoadenylate deaminase deficiency AMP deaminase 1 deficiency AMP deaminase deficiency AMPD1 deficiency MMDD adenosine monophosphate deaminase 1 deficiency adenosine monophosphate deaminase deficiency adenosine monophosphate deaminase-1 deficiency, myopathy due to myoadenylate deaminase deficiency myoadenylate deaminase deficiency, myopathy due to myopathy due to myoadenylate deaminase deficiency https://rarediseases.info.nih.gov/diseases/547/adenosine-monophosphate-deaminase-1-deficiency MONDO:0014221 Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4985 hemolytic anemia due to triosephosphate isomerase deficiency triose phosphate-isomerase deficiency triosephosphate isomerase deficiency TPI deficiency TPID triosephosphate isomerase deficiency https://rarediseases.info.nih.gov/diseases/5287/triosephosphate-isomerase-deficiency MONDO:0014222 https://github.com/monarch-initiative/mondo/issues/4521 immunodeficiency 14 immunodeficiency 14A, autosomal dominant immunodeficiency type 14 Activated PI3K-Delta syndrome IMD14 p110-Delta-Activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency immunodeficiency 14 MONDO:0014223 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ERBB4 gene. ALS19 ERBB4 amyotrophic lateral sclerosis amyotrophic lateral sclerosis 19 amyotrophic lateral sclerosis caused by mutation in ERBB4 amyotrophic lateral sclerosis type 19 amyotrophic lateral sclerosis type 19 MONDO:0014224 Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 developmental delay with ASD and gait instability intellectual developmental disorder, autosomal recessive 38 intellectual disability, autosomal recessive type 38 mental retardation, autosomal recessive type 38 MRT38 intellectual disability, autosomal recessive 38 mental retardation, autosomal recessive 38 developmental delay with autism spectrum disorder and gait instability MONDO:0014225 Any hereditary hemochromatosis in which the cause of the disease is a mutation in the FTH1 gene. FTH1 hereditary hemochromatosis FTH1-associated iron overload FTH1-related iron overload HFE5 hereditary hemochromatosis caused by mutation in FTH1 hemochromatosis, type 5 iron overload, autosomal dominant Editor notes: ORDO treats this as two diseases hemochromatosis type 5 MONDO:0014226 Idiopathic CD4 lymphocytopenia (ICL) is a rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/B5L on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed. immunodeficiency type 13 ICL IMD13 idiopathic CD4 positive T-lymphocytopenia idiopathic Cd4 lymphopenia immunodeficiency 13 idiopathic CD4 lymphocytopenia MONDO:0014227 Cole disease guttate hypopigmentation and punctate palmoplantar keratoderma hypopigmentation and punctate keratosis of the palms and soles COLE disease COLED guttate hypopigmentation guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification punctate palmoplantar keratoderma with or without ectopic calcification hypopigmentation-punctate palmoplantar keratoderma syndrome MONDO:0014228 Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the AGBL1 gene. AGBL1 Fuchs' endothelial dystrophy Fuchs' endothelial dystrophy caused by mutation in AGBL1 corneal dystrophy, Fuchs endothelial, 8 corneal dystrophy, Fuchs endothelial, type 8 FECD8 corneal dystrophy, Fuchs endothelial, 8 MONDO:0014229 Syndromic microphthalmia-12 is a rare disease characterized by bilateral small eyeballs (microphthalmia), lungs that are too small (pulmonary hypoplasia), and a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity (diaphragmatic hernia). Other symptoms may include: Severe global developmental delay with progressive motor impairment due to spasticity and/or uncontrolled repetitive muscular contractions (dystonia), with or without abnormal quick movements that resemble dancing (chorea), Defects of the cerebellum (Chiari type I malformation) Accumulation of cerebrospinal fluid inside the brain (hydrocephaly), Severe feeding difficulties, Mild facial dysmorphism with broad nasal root and tip, and a very small chin (micrognathia), Severe language delay, Wheelchair-bound. Syndromic microphthalmia-12 is caused by mutations in the RARB gene. There is no specific treatment for this syndrome. RARB syndromic microphthalmia microphthalmia, syndromic 12 microphthalmia, syndromic type 12 syndromic microphthalmia caused by mutation in RARB MCOPS12 microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or Cardiac defects syndromic microphthalmia-12 microphthalmia, syndromic 12 https://rarediseases.info.nih.gov/diseases/13235/syndromic-microphthalmia-12 MONDO:0014230 Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the TRAF3IP2 gene. TRAF3IP2 chronic mucocutaneous candidiasis (disease) candidiasis, familial, 8 candidiasis, familial, type 8 chronic mucocutaneous candidiasis (disease) caused by mutation in TRAF3IP2 CANDF8 candidiasis, familial chronic mucocutaneous, autosomal recessive candidiasis, familial, 8 MONDO:0014231 Any Parkinson disease in which the cause of the disease is a mutation in the DNAJC6 gene. DNAJC6 Parkinson disease Parkinson disease caused by mutation in DNAJC6 juvenile onset Parkinson disease 19A juvenile onset Parkinson disease type 19A PARK19 PARK19A Park19, formerly Parkinson disease 19, juvenile-onset Parkinson disease 19A, juvenile-onset Parkinson disease 19B, early-onset juvenile onset Parkinson's disease 19A juvenile onset Parkinson disease 19A MONDO:0014232 Any craniosynostosis in which the cause of the disease is a mutation in the ALX4 gene. ALX4 craniosynostosis craniosynostosis 5, susceptibility to craniosynostosis caused by mutation in ALX4 CRS5 susceptibility to craniosynostosis 5 craniosynostosis 5, susceptibility to MONDO:0014233 Any Parkinson disease in which the cause of the disease is a mutation in the SYNJ1 gene. Parkinson disease caused by mutation in SYNJ1 SYNJ1 Parkinson disease early-onset Parkinson disease type 20 PARK20 Parkinson disease 20, early-onset early-onset Parkinson's disease 20 early-onset Parkinson disease 20 MONDO:0014234 A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present. RAPK reticulate acropigmentation of Kitamura Kitamura reticulate acropigmentation RAK acropigmentatio reticularis reticulate pigmentation of Kitamura reticulate acropigmentation of Kitamura MONDO:0014235 https://github.com/monarch-initiative/mondo/issues/3492 https://github.com/monarch-initiative/mondo/issues/4521 chromosome 22q13 duplication syndrome chromosome 22q13 duplication syndrome, isolated cases chromosome 22q13 duplication syndrome MONDO:0014236 Any Ehlers-Danlos syndrome, musculocontractural type in which the cause of the disease is a mutation in the DSE gene. https://github.com/monarch-initiative/mondo/issues/4948 DSE Ehlers-Danlos syndrome, musculocontractural type Ehlers-Danlos syndrome, musculocontractural type 2 Ehlers-Danlos syndrome, musculocontractural type caused by mutation in DSE EDSMC2 Ehlers-Danlos syndrome, musculocontractural type, 2 Ehlers-Danlos syndrome, musculocontractural type 2 MONDO:0014237 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SYNE4 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB76 SYNE4 autosomal recessive nonsyndromic deafness autosomal recessive deafness 76 autosomal recessive nonsyndromic deafness 76 autosomal recessive nonsyndromic deafness caused by mutation in SYNE4 autosomal recessive nonsyndromic deafness type 76 deafness, autosomal recessive 76 deafness, autosomal recessive type 76 autosomal recessive nonsyndromic hearing loss 76 MONDO:0014238 https://github.com/monarch-initiative/mondo/issues/5588 intellectual disability, autosomal recessive type 39 mental retardation, autosomal recessive type 39 MRT39 intellectual disability, autosomal recessive 39 mental retardation, autosomal recessive 39 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome MONDO:0014239 testicular anomalies with or without congenital heart disease TACHD testicular anomalies with or without congenital heart disease MONDO:0014240 Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the ERMARD gene. ERMARD periventricular nodular heterotopia periventricular nodular heterotopia 6 periventricular nodular heterotopia caused by mutation in ERMARD periventricular nodular heterotopia type 6 PVNH6 periventricular nodular heterotopia 6 MONDO:0014241 Any precursor B-cell acute lymphoblastic leukemia in which the cause of the disease is a mutation in the PAX5 gene. PAX5 precursor B-cell acute lymphoblastic leukemia leukemia, acute lymphoblastic, susceptibility to, 3 leukemia, acute lymphoblastic, susceptibility to, type 3 precursor B-cell acute lymphoblastic leukemia caused by mutation in PAX5 ALL3 susceptibility to acute lymphoblastic leukemia 3 leukemia, acute lymphoblastic, susceptibility to, 3 MONDO:0014242 Any van Maldergem syndrome in which the cause of the disease is a mutation in the FAT4 gene. FAT4 van Maldergem syndrome Van Maldergem syndrome type 2 van Maldergem syndrome 2 van Maldergem syndrome caused by mutation in FAT4 VAN Maldergem syndrome 2 VMLDS2 van Maldergem syndrome 2 MONDO:0014243 https://github.com/monarch-initiative/mondo/issues/3338 MAGEL2-related PWLS MAGEL2-related Prader-Willi-like syndrome SHFYNG Schaaf-Yang syndrome arthrogryposis, distal, with hypopituitarism, intellectual disability, and facial anomalies arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies Chitayat-Hall syndrome PWS due to a point mutation Prader-Willi syndrome due to point mutation Prader-Willi-like syndrome distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies Schaaf-Yang syndrome MONDO:0014244 Hereditary sensory and autonomic neuropathy type 7 (HSAN7) is a genetic condition that causes the inability to feel pain, excessive sweating, and gastrointestinal issues. Gastrointestinal issues can cause failure to thrive, painful constipation, and diarrhea. The constipation is due to intestinal dysmotility, where the the muscles and nerves of the digestive system do not move food through the digestive tract like it should. Signs and symptoms of HSAN7 usually appear at birth or during infancy. The inability to feel pain often leads to repeated, severe injuries, including bone fractures and joint dislocations. People with HSAN7 may also heal slowly putting them at risk for further complications, such as infection. Excessive sweating may cause itching. Other features may include partial insensitivity to cold and hot temperatures, mild muscle weakness, and motor skill delays. HSAN7 is not known to affect learning or intelligence. Treatment of HSAN7 aims to prevent injury and treat gastrointestinal and orthopedic problems. HSAN7 is caused by a mutation in the SCN11A gene. People with HSAN7 have a 1 in 2 or 50% chance of passing the condition on to each of their children. This pattern of inheritance is called ' autosomal dominant.' CIP with hyperhidrosis and gastrointestinal dysfunction HSAN VII HSAN with hyperhidrosis and gastrointestinal dysfunction HSAN7 SCN11A autosomal dominant hereditary sensory and autonomic neuropathy autosomal dominant hereditary sensory and autonomic neuropathy caused by mutation in SCN11A congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction hereditary sensory and autonomic neuropathy type VII hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction HSAN 7 insensitivity to pain, congenital, with gastrointestinal dysfunction and hyperhidrosis neuropathy, hereditary sensory and autonomic, type 7 neuropathy, hereditary sensory and autonomic, type VII hereditary sensory and autonomic neuropathy type 7 https://rarediseases.info.nih.gov/diseases/12732/hereditary-sensory-and-autonomic-neuropathy-type-7 MONDO:0014245 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL15 gene. Diamond-Blackfan Anemia type 12 Diamond-Blackfan anemia 12 Diamond-Blackfan anemia caused by mutation in RPL15 RPL15 Diamond-Blackfan anemia DBA12 Diamond-Blackfan anemia 12 MONDO:0014246 Any familial episodic pain syndrome in which the cause of the disease is a mutation in the SCN10A gene. SCN10A familial episodic pain syndrome episodic pain syndrome, familial, 2 episodic pain syndrome, familial, type 2 familial episodic pain syndrome caused by mutation in SCN10A FEPS2 episodic pain syndrome, familial, 2 MONDO:0014247 A rare, autosomal dominant disorder caused by mutation in the SCN11A gene. It is characterized by intense episodic pain mainly affecting the distal lower extremities in early childhood. The pain diminishes with age. episodic pain syndrome, familial, type 3 FEPS3 episodic pain syndrome, familial, 3 familial episodic pain syndrome with predominantly lower limb involvement MONDO:0014248 SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21). https://github.com/monarch-initiative/mondo/issues/4521 SLC35A3-CDG arthrogryposis, impaired intellectual development, and seizures AMRS arthrogryposis, intellectual disability, and seizures arthrogryposis, mental retardation, and seizures autism spectrum disorder - epilepsy - arthrogryposis syndrome MONDO:0014249 Mammary polyadenomatosis is characterised by the presence in both breasts of multiple voluminous fibroadenomas with heterogeneous echo patterns. mammary polyadenomatosis MFAB multiple fibroadenomas of the breast multiple fibroadenoma of the breast MONDO:0014250 Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple affected family members. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual disfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients. familial hyperprolactinemia familial isolated prolactin receptor deficiency hereditary hyperprolactinemia (disease) HPRL hyperprolactinemia familial hyperprolactinemia MONDO:0014251 melioidosis, susceptibility to melioidosis, resistance to susceptibility to melioidosis melioidosis, susceptibility to MONDO:0014252 Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the APOB gene. https://github.com/monarch-initiative/mondo/issues/4521 hypobetalipoproteinemia APOB hypobetalipoproteinemia FHBL1 familial hypobetalipoproteinemia 1 familial hypobetalipoproteinemia type 1 hypobetalipoproteinemia caused by mutation in APOB hypobetalipoproteinemia, familial, type 1 FHBL acanthocytosis with hypobetalipoproteinemia hypobetalipoproteinemia, Normotriglyceridemic hypobetalipoproteinemia, familial hypobetalipoproteinemia, familial, 1 familial hypobetalipoproteinemia 1 MONDO:0014254 Any otofaciocervical syndrome in which the cause of the disease is a mutation in the PAX1 gene. PAX1 otofaciocervical syndrome otofaciocervical syndrome 2 otofaciocervical syndrome caused by mutation in PAX1 otofaciocervical syndrome type 2 OFC2 OTFCS2 otofaciocervical syndrome 2 MONDO:0014255 complement factor b deficiency CFBD complement factor B deficiency complement factor b deficiency MONDO:0014256 Any retinitis pigmentosa in which the cause of the disease is a mutation in the NEK2 gene. NEK2 retinitis pigmentosa RP67 retinitis pigmentosa 67 retinitis pigmentosa caused by mutation in NEK2 retinitis pigmentosa type 67 retinitis pigmentosa 67 MONDO:0014257 Any nephrotic syndrome in which the cause of the disease is a mutation in the COQ8B gene. COQ8B nephrotic syndrome nephrotic syndrome caused by mutation in COQ8B nephrotic syndrome, type 9 NPHS9 nephrotic syndrome, type 9 MONDO:0014258 https://github.com/monarch-initiative/mondo/issues/4069 asparagine synthetase deficiency congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ASNSD Asns deficiency congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome MONDO:0014259 Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the FBXO38 gene. FBXO38 neuronopathy, distal hereditary motor neuronopathy, distal hereditary motor caused by mutation in FBXO38 HMN 2D HMN2D neuronopathy, distal hereditary motor, type IID neuropathy, distal hereditary motor, type 2D spinal muscular atrophy, distal, autosomal dominant, calf-predominant neuronopathy, distal hereditary motor, type 2D MONDO:0014260 Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB2 gene. NFKB2 common variable immunodeficiency common variable immunodeficiency caused by mutation in NFKB2 immunodeficiency, common variable, 10 immunodeficiency, common variable, type 10 CVID10 Deficit in anterior pituitary function and variable immunodeficiency immunodeficiency, common variable, with central adrenal insufficiency immunodeficiency, common variable, 10 MONDO:0014261 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SFXN4 gene. SFXN4 combined oxidative phosphorylation deficiency combined oxidative phosphorylation deficiency caused by mutation in SFXN4 combined oxidative phosphorylation deficiency type 18 COXPD18 combined oxidative phosphorylation deficiency 18 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome MONDO:0014262 Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection. https://github.com/monarch-initiative/mondo/issues/4948 Loeys-Dietz syndrome type 5 Rienhoff syndrome LDS5 Loeys-Dietz syndrome 5 Rienhoff syndrome https://rarediseases.info.nih.gov/diseases/12356/rienhoff-syndrome MONDO:0014263 https://github.com/monarch-initiative/mondo/issues/3664 Verheij syndrome VRJS chromosome 8Q24.3 deletion syndrome 8q24.3 microdeletion syndrome MONDO:0014264 OTSC10 otosclerosis 10 otosclerosis 10 MONDO:0014265 Any Alzheimer disease in which the cause of the disease is a mutation in the ADAM10 gene. https://github.com/monarch-initiative/mondo/issues/4521 AD18 ADAM10 Alzheimer disease Alzheimer disease 18 Alzheimer disease caused by mutation in ADAM10 Alzheimer disease type 18 Alzheimer's disease 18 Alzheimer's disease type 18 Alzheimer disease 18, late-onset Alzheimer disease 18, susceptibility to Alzheimer disease 18 MONDO:0014266 An inherited susceptibility or predisposition to developing age related macular degeneration in which the cause of the disease is a mutation in the C9 gene. https://github.com/monarch-initiative/mondo/issues/4521 ARMD15 C9 age-related macular degeneration age related macular degeneration type 15 age-related macular degeneration caused by mutation in C9 macular degeneration, age-related, 15, susceptibility to macular degeneration, age-related, type 15 macular degeneration, age-related, 15 age related macular degeneration 15 MONDO:0014267 Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present. https://github.com/monarch-initiative/mondo/issues/4521 SCID due to IKK2 deficiency immunodeficiency 15B immunodeficiency type 15 IMD15 immunodeficiency 15 severe combined immunodeficiency due to IKK2 deficiency MONDO:0014268 Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma. combined immunodeficiency with childhood-onset Kaposi sarcoma combined immunodeficiency with impaired immunity to HHV-8 combined immunodeficiency with impaired immunity to human herpes virus 8 immunodeficiency type 16 IMD16 OX40 deficiency immunodeficiency 16 combined immunodeficiency due to OX40 deficiency MONDO:0014269 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the LYRM4 gene. LYRM4 combined oxidative phosphorylation deficiency combined oxidative phosphorylation deficiency 19 combined oxidative phosphorylation deficiency caused by mutation in LYRM4 combined oxidative phosphorylation deficiency type 19 COXPD19 combined oxidative phosphorylation deficiency 19 MONDO:0014270 STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3). https://github.com/monarch-initiative/mondo/issues/4521 CDG syndrome type Iw CDG-Iw CDG1W STT3A-CDG STT3A-congenital disorder of glycosylation congenital disorder of glycosylation type 1w congenital disorder of glycosylation type Iw congenital disorder of glycosylation, type Iw, autosomal recessive CDG Iw congenital disorder of glycosylation, type Iw STT3A-congenital disorder of glycosylation MONDO:0014271 STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene STT3B (3p24.1). CDG syndrome type IX CDG-Ix CDG1X STT3B-CDG STT3B-congenital disorder of glycosylation carbohydrate deficient glycoprotein syndrome type IX congenital disorder of glycosylation type 1x congenital disorder of glycosylation type IX CDG IX congenital disorder of glycosylation, type IX STT3B-congenital disorder of glycosylation MONDO:0014272 Keratosis, Nagashima-type is a transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda. PPK, Nagashima type palmoplantar hyperkeratosis, Nagashima type palmoplantar keratoderma, Nagashima type PPKN palmoplantar keratoderma, Nagashima type MONDO:0014273 Microcephaly-thin corpus callosum-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 intellectual developmental disorder, autosomal recessive 40 intellectual disability, autosomal recessive type 40 mental retardation, autosomal recessive type 40 microcephaly-thin corpus callosum-intellectual disability syndrome MRT40 intellectual disability, autosomal recessive 40 mental retardation, autosomal recessive 40 microcephaly-thin corpus callosum-intellectual disability syndrome MONDO:0014274 https://github.com/monarch-initiative/mondo/issues/4521 L-ferritin deficiency L-ferritin deficiency, dominant and recessive LFTD L-ferritin deficiency MONDO:0014275 Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene. EHHADH Fanconi syndrome Fanconi renotubular syndrome 3 Fanconi renotubular syndrome type 3 Fanconi syndrome caused by mutation in EHHADH FRTS3 Fanconi renotubular syndrome 3 MONDO:0014276 Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations. https://github.com/monarch-initiative/mondo/issues/4521 CD3 deficiency CD3-gamma deficiency CD3gamma deficiency IMD17 SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive combined immunodeficiency due to CD3gamma deficiency immunodeficiency 17 immunodeficiency 17, CD3 gamma deficient immunodeficiency type 17 combined immunodeficiency due to CD3gamma deficiency https://rarediseases.info.nih.gov/diseases/9521/cd3-deficiency MONDO:0014277 DDH2 developmental dysplasia of the hip 2 developmental dysplasia of the hip 2 MONDO:0014278 Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18. CD3-Epsilon deficiency IMD18 immunodeficiency 18 immunodeficiency 18, SCID variant immunodeficiency 18, Severe combined immunodeficiency variant immunodeficiency type 18 immunodeficiency 18 MONDO:0014280 Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD3D gene. CD3D CD3D severe combined immunodeficiency (disease) CD3delta deficiency immunodeficiency 19 immunodeficiency type 19 severe combined immunodeficiency (disease) caused by mutation in CD3D CD3-Delta deficiency IMD19 SCID, T cell-negative, B cell-positive, NK cell-positive severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive immunodeficiency 19 MONDO:0014281 https://github.com/monarch-initiative/mondo/issues/4882 cholangiocarcinoma, susceptibility to Chlc, susceptibility to cholangiocarcinoma, susceptibility to MONDO:0014282 Any pure hereditary spastic paraplegia in which the cause of the disease is a mutation in the REEP2 gene. https://github.com/monarch-initiative/mondo/issues/4521 REEP2 pure hereditary spastic paraplegia SPG72 autosomal spastic paraplegia type 72 hereditary spastic paraplegia type 72 pure hereditary spastic paraplegia caused by mutation in REEP2 spastic paraplegia 72, autosomal dominant spastic paraplegia 72, autosomal recessive Editor note: This class covers either AD or AR. in ORDO this is classified as *both* AD and AR. This would cause inconsistencies here, so we are neutral about the inheritance hereditary spastic paraplegia 72 MONDO:0014283 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TNC gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA56 TNC autosomal dominant nonsyndromic deafness autosomal dominant deafness 56 autosomal dominant nonsyndromic deafness 56 autosomal dominant nonsyndromic deafness caused by mutation in TNC autosomal dominant nonsyndromic deafness type 56 deafness, autosomal dominant 56 deafness, autosomal dominant type 56 autosomal dominant nonsyndromic hearing loss 56 MONDO:0014284 An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23. SRTD10 short-rib thoracic dysplasia 10 with or without polydactyly short-rib thoracic dysplasia 10 with or without polydactyly MONDO:0014285 https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 anemia, congenital dyserythropoietic, type IB congenital dyserythropoietic anemia type type 1B dyserythropoietic anemia, congenital, type IB CDA, type IB CDAN1B congenital dyserythropoietic anemia type type 1B MONDO:0014286 Any hereditary sensory and autonomic neuropathy type 1 in which the cause of the disease is a mutation in the ATL3 gene. ATL3 hereditary sensory and autonomic neuropathy type 1 HSN1F hereditary sensory and autonomic neuropathy type 1 caused by mutation in ATL3 hereditary sensory neuropathy type IF neuropathy, hereditary sensory, type 1F HSN 1F hereditary sensory neuropathy type 1F neuropathy, hereditary sensory, type IF neuropathy, hereditary sensory, type 1F MONDO:0014287 An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34. SRTD11 short-rib thoracic dysplasia 11 with or without polydactyly short-rib thoracic dysplasia 11 with or without polydactyly MONDO:0014288 Any Joubert syndrome in which the cause of the disease is a mutation in the CSPP1 gene. CSPP1 Joubert syndrome JBTS21 Joubert syndrome 21 Joubert syndrome caused by mutation in CSPP1 Joubert syndrome type 21 Joubert syndrome 21 MONDO:0014289 Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegally. https://github.com/monarch-initiative/mondo/issues/5588 intellectual disability, autosomal recessive type 41 mental retardation, autosomal recessive type 41 MRT41 intellectual disability, autosomal recessive 41 mental retardation, autosomal recessive 41 macrocephaly-developmental delay syndrome MONDO:0014290 COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder. COASY neurodegeneration with brain iron accumulation CoPAN NBIA6 neurodegeneration with brain iron accumulation 6 neurodegeneration with brain iron accumulation caused by mutation in COASY neurodegeneration with brain iron accumulation due to COASY mutation neurodegeneration with brain iron accumulation type 6 COASY protein-associated neurodegeneration neurodegeneration with brain iron accumulation 6 MONDO:0014291 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA54 autosomal dominant deafness 54 autosomal dominant nonsyndromic deafness 54 autosomal dominant nonsyndromic deafness type 54 deafness, autosomal dominant 54 autosomal dominant nonsyndromic hearing loss 54 MONDO:0014292 LKPAT leukoencephalopathy with ataxia leukoencephalopathy with mild cerebellar ataxia and white matter edema MONDO:0014293 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p21-p12. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA58 autosomal dominant deafness 58 autosomal dominant nonsyndromic deafness 58 autosomal dominant nonsyndromic deafness type 58 deafness, autosomal dominant 58 autosomal dominant nonsyndromic hearing loss 58 MONDO:0014294 15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia). https://github.com/monarch-initiative/mondo/issues/3664 15q11.2 BP1-BP2 microdeletion syndrome 15q11.2 microdeletion syndrome Del(15)(q11.2) chromosome 15q11.2 deletion syndrome monosomy 15q11.2 15q11.2 microdeletion chromosome 15q11.2 deletion chromosome 15q11.2 microdeletion chromosome 15q11.2 deletion syndrome MONDO:0014295 An extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function. SPG57 TFG hereditary spastic paraplegia autosomal recessive spastic paraplegia 57 autosomal recessive spastic paraplegia type 57 hereditary spastic paraplegia caused by mutation in TFG hereditary spastic paraplegia type 57 spastic paraplegia due to partial TFG deficiency spastic paraplegia 57, autosomal recessive hereditary spastic paraplegia 57 MONDO:0014296 Any Warburg micro syndrome in which the cause of the disease is a mutation in the TBC1D20 gene. TBC1D20 Warburg micro syndrome WARBM4 Warburg micro syndrome 4 Warburg micro syndrome caused by mutation in TBC1D20 Warburg micro syndrome type 4 micro syndrome 4 WARBURG micro syndrome 4 Warburg micro syndrome 4 MONDO:0014297 Any Joubert syndrome in which the cause of the disease is a mutation in the PDE6D gene. JBTS22 Joubert syndrome 22 Joubert syndrome caused by mutation in PDE6D Joubert syndrome type 22 PDE6D Joubert syndrome Joubert syndrome 22 MONDO:0014298 PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin. https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/5588 chromosome 5q12 deletion syndrome PDE4D haploinsufficiency syndrome chromosome 5q12 deletion syndrome MONDO:0014299 https://github.com/monarch-initiative/mondo/issues/4521 Schwannomatosis type 2 schwannomatosis 2 SCHWANNOMATOSIS 2 SWNTS2 schwannomatosis-2, susceptibility to schwannomatosis 2 MONDO:0014300 Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy. MPXPS myopathy with extrapyramidal signs proximal myopathy with extrapyramidal signs MONDO:0014301 DDD3 Dowling-Degos disease 3 dowling-degos disease 3 MONDO:0014302 Autosomal recessive spastic paraplegia type 62 is a pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some. ERLIN1 autosomal recessive pure spastic paraplegia SPG62 autosomal recessive pure spastic paraplegia caused by mutation in ERLIN1 autosomal recessive spastic paraplegia 62 autosomal recessive spastic paraplegia type 62 hereditary spastic paraplegia type 62 spastic paraplegia 62, autosomal recessive hereditary spastic paraplegia 62 MONDO:0014303 An extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1. ENTPD1 autosomal recessive complex spastic paraplegia SPG64 autosomal recessive complex spastic paraplegia caused by mutation in ENTPD1 autosomal recessive spastic paraplegia 64 autosomal recessive spastic paraplegia type 64 hereditary spastic paraplegia type 64 spastic paraplegia 64, autosomal recessive hereditary spastic paraplegia 64 MONDO:0014304 A rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1. ARL6IP1 autosomal recessive complex spastic paraplegia SPG61 autosomal recessive complex spastic paraplegia caused by mutation in ARL6IP1 autosomal recessive spastic paraplegia 61 autosomal recessive spastic paraplegia type 61 hereditary spastic paraplegia 61 hereditary spastic paraplegia type 61 spastic paraplegia 61, autosomal recessive hereditary spastic paraplegia 61 MONDO:0014305 An extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2. AMPD2 autosomal recessive complex spastic paraplegia SPG63 autosomal recessive complex spastic paraplegia caused by mutation in AMPD2 autosomal recessive spastic paraplegia 63 hereditary spastic paraplegia type 63 spastic paraplegia 63 autosomal recessive spastic paraplegia type 63 spastic paraplegia 63, autosomal recessive hereditary spastic paraplegia 63 MONDO:0014306 Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency. https://github.com/monarch-initiative/mondo/issues/4521 ADA2 deficiency DADA2 adenosine deaminase 2 deficiency childhood-onset polyarteritis nodosa polyarteritis nodosa, childhood-onset vasculitis due to DADA2 vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome PAN vasculitis due to ADA2 deficiency MONDO:0014307 Any Dowling-Degos disease in which the cause of the disease is a mutation in the POGLUT1 gene. Dowling-Degos disease 4 Dowling-Degos disease caused by mutation in POGLUT1 Dowling-Degos disease type 4 POGLUT1 Dowling-Degos disease DDD4 Dowling-Degos disease 4 MONDO:0014308 A temporal lobe epilepsy that has material basis in variation in the chromosome region 3q25-q26. ETL6 familial temporal lobe epilepsy type 6 epilepsy, familial temporal lobe, 6 Editor note: TODO familial temporal lobe epilepsy 6 MONDO:0014309 MOSPGF morbid obesity and spermatogenic failure obesity due to CEP19 deficiency MONDO:0014310 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features. POIKTMP syndrome POIKTMP hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis poikiloderma, hereditary sclerosing, with tendon and pulmonary involvement hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014311 Any autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome in which the cause of the disease is a mutation in the RUBCN gene. RUBCN autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome RUBCN autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome SCAR15 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in RUBCN autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in RUBCN autosomal recessive spinocerebellar ataxia type 15 spinocerebellar ataxia, autosomal recessive type 15 Salih ataxia autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to KIAA0226 deficiency autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency spinocerebellar ataxia, autosomal recessive 15 autosomal recessive spinocerebellar ataxia 15 MONDO:0014312 https://github.com/monarch-initiative/mondo/issues/4948 Auriculocondylar syndrome 3 Auriculocondylar syndrome type 3 ARCND3 AURICULOCONDYLAR syndrome 3 auriculocondylar syndrome 3 MONDO:0014313 CD16 deficiency autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity immunodeficiency type 20 IMD20 immunodeficiency 20 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity MONDO:0014314 SAVA sacral agenesis with vertebral anomalies sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome MONDO:0014316 Any Alzheimer disease in which the cause of the disease is a mutation in the PLD3 gene. AD19 Alzheimer disease 19 Alzheimer disease 19 late onset Alzheimer disease caused by mutation in PLD3 Alzheimer disease type 19 Alzheimer's disease 19 Alzheimer's disease type 19 PLD3 Alzheimer disease Alzheimer disease 19, late-onset Alzheimer disease 19 MONDO:0014317 Trilineage bone marrow failure-developmental delay syndrome bone marrow failure syndrome type 2 pancytopenia-developmental delay syndrome BMFS2 bone marrow failure syndrome 2 pancytopenia-developmental delay syndrome MONDO:0014318 Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP3 gene. PGAP3 hyperphosphatasia-intellectual disability syndrome hyperphosphatasia with intellectual disability syndrome 4 hyperphosphatasia with intellectual disability syndrome type 4 hyperphosphatasia with mental retardation syndrome 4 hyperphosphatasia with mental retardation syndrome type 4 hyperphosphatasia-intellectual disability syndrome caused by mutation in PGAP3 HPMRS4 glycosylphosphatidylinositol biosynthesis defect 10 hyperphosphatasia with intellectual disability syndrome 4 MONDO:0014319 Any renal agenesis in which the cause of the disease is a mutation in the FGF20 gene. FGF20 renal agenesis (disease) renal agenesis (disease) caused by mutation in FGF20 renal hypodysplasia/aplasia 2 renal hypodysplasia/aplasia type 2 RHDA2 renal hypodysplasia/aplasia 2 MONDO:0014320 Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific. https://github.com/monarch-initiative/mondo/issues/4452 https://github.com/monarch-initiative/mondo/issues/5588 BBSOAS Bosch-Boonstra-Schaaf optic atrophy syndrome optic atrophy-intellectual disability syndrome Bosch-Boonstra-Schaaf optic atrophy syndrome MONDO:0014321 Any primary ovarian failure in which the cause of the disease is a mutation in the STAG3 gene. STAG3 primary ovarian failure premature ovarian failure 8 premature ovarian failure type 8 primary ovarian failure caused by mutation in STAG3 POF8 premature ovarian failure 8 MONDO:0014322 Any primary ovarian failure in which the cause of the disease is a mutation in the HFM1 gene. HFM1 primary ovarian failure premature ovarian failure 9 premature ovarian failure type 9 primary ovarian failure caused by mutation in HFM1 Pof9 premature ovarian failure 9 MONDO:0014323 Any retinitis pigmentosa in which the cause of the disease is a mutation in the SLC7A14 gene. RP68 SLC7A14 retinitis pigmentosa retinitis pigmentosa 68 retinitis pigmentosa caused by mutation in SLC7A14 retinitis pigmentosa type 68 retinitis pigmentosa 68 MONDO:0014324 Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6A gene. KRT6A pachyonychia congenita pachyonychia congenita 3 pachyonychia congenita caused by mutation in KRT6A pachyonychia congenita type 3 PC3 pachyonychia congenita 3 MONDO:0014325 Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6B gene. KRT6B pachyonychia congenita pachyonychia congenita 4 pachyonychia congenita caused by mutation in KRT6B pachyonychia congenita type 4 PC4 pachyonychia congenita 4 MONDO:0014326 Any nemaline myopathy in which the cause of the disease is a mutation in the KLHL41 gene. KLHL41 nemaline myopathy NEM9 nemaline myopathy 9 nemaline myopathy caused by mutation in KLHL41 nemaline myopathy type 9 nemaline myopathy 9 MONDO:0014327 https://github.com/monarch-initiative/mondo/issues/3108 autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering palmoplantar keratoderma, nonepidermolytic, focal or diffuse PPKNEFD palmoplantar keratoderma, nonepidermolytic, focal or diffuse MONDO:0014328 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRA1 gene. https://github.com/monarch-initiative/mondo/issues/4521 DEE19 EIEE19 Early Infantile epileptic encephalopathy 19 GABRA1 early infantile epileptic encephalopathy developmental and epileptic encephalopathy 19 early infantile epileptic encephalopathy caused by mutation in GABRA1 epileptic encephalopathy, early infantile, 19 epileptic encephalopathy, early infantile, type 19 developmental and epileptic encephalopathy, 19 MONDO:0014329 Any atrial standstill in which the cause of the disease is a mutation in the NPPA gene. NPPA atrial standstill atrial standstill 2 atrial standstill caused by mutation in NPPA atrial standstill type 2 ATRST2 atrial dilation and standstill cardiomyopathy, atrial dilated, with atrial standstill atrial standstill 2 MONDO:0014331 Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases (moyamoya disease). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis. https://github.com/monarch-initiative/mondo/issues/4521 moyamoya 6 with achalasia MYMY6 Moyamoya disease 6 with achalasia Moyamoya disease with early-onset achalasia MONDO:0014332 https://github.com/monarch-initiative/mondo/issues/4985 CA-VA deficiency hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency CA5AD carbonic anhydrase 5A deficiency, hyperammonemia due to carbonic anhydrase VA deficiency carbonic anhydrase VA deficiency, hyperammonemia due to hyperammonemia due to carbonic anhydrase VA deficiency mitochondrial carbonic anhydrase va deficiency hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency MONDO:0014333 https://github.com/monarch-initiative/mondo/issues/4521 polymicrogyria, bilateral perisylvian polymicrogyria, bilateral perisylvian, autosomal recessive BPPR Pmgr polymicrogyria, bilateral perisylvian, autosomal recessive MONDO:0014334 SCID due to LCK deficiency SCID due to lymphocyte-specific protein tyrosine kinase deficiency immunodeficiency type 22 severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency IMD22 immunodeficiency 22 severe combined immunodeficiency due to LCK deficiency MONDO:0014335 https://github.com/monarch-initiative/mondo/issues/4521 diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome microcephaly, progressive, seizures, and cerebral and cerebellar atrophy MSCCA microcephaly, progressive, with seizures and cerebral and cerebellar atrophy diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome MONDO:0014336 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 MRD23 autosomal dominant intellectual disability 23 autosomal dominant mental retardation 23 intellectual developmental disorder, autosomal dominant 23 intellectual disability, autosomal dominant type 23 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency mental retardation, autosomal dominant type 23 autosomal dominant non-syndromic intellectual disability 23 intellectual disability, autosomal dominant 23 mental retardation, autosomal dominant 23 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency MONDO:0014337 Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2A gene. CDCBM5 TUBB2A complex cortical dysplasia with other brain malformations complex cortical dysplasia with other brain malformations caused by mutation in TUBB2A complex cortical dysplasia with other brain malformations type 5 cortical dysplasia, Complex, with Other brain malformations type 5 cortical dysplasia, complex, with other brain malformations 5 complex cortical dysplasia with other brain malformations 5 MONDO:0014338 IL21-related infantile IBD immunodeficiency, common variable, type 11 CVID11 IL21 deficiency immunodeficiency, common variable, 11 IL21-related infantile inflammatory bowel disease MONDO:0014339 Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the STUB1 gene. SCAR16 STUB1 autosomal recessive cerebellar ataxia autosomal recessive cerebellar ataxia caused by mutation in STUB1 autosomal recessive spinocerebellar ataxia 16 autosomal recessive spinocerebellar ataxia type 16 spinocerebellar ataxia autosomal recessive type 16 spinocerebellar ataxia, autosomal recessive type 16 autosomal recessive cerebellar ataxia due to STUB1 deficiency spinocerebellar ataxia, autosomal recessive 16 autosomal recessive spinocerebellar ataxia 16 MONDO:0014340 Any familial atrial fibrillation in which the cause of the disease is a mutation in the NUP155 gene. https://github.com/monarch-initiative/mondo/issues/4521 NUP155 familial atrial fibrillation atrial fibrillation 15 atrial fibrillation, familial, 15 atrial fibrillation, familial, type 15 familial atrial fibrillation caused by mutation in NUP155 ATFB15 atrial fibrillation, familial, 15 MONDO:0014341 Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB gene. CDCBM56 TUBB complex cortical dysplasia with other brain malformations complex cortical dysplasia with other brain malformations caused by mutation in TUBB complex cortical dysplasia with other brain malformations type 6 cortical dysplasia, Complex, with Other brain malformations type 6 CDCBM6 cortical dysplasia, complex, with other brain malformations 6 complex cortical dysplasia with other brain malformations 6 MONDO:0014342 Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa. OOMD OOMD1 oocyte maturation defect oocyte maturation defect 1 female infertility due to zona pellucida defect MONDO:0014343 Any Desbuquois dysplasia in which the cause of the disease is a mutation in the XYLT1 gene. https://github.com/monarch-initiative/mondo/issues/4948 Baratela-Scott syndrome Desbuquois dysplasia 2 Desbuquois dysplasia caused by mutation in XYLT1 Desbuquois dysplasia type 2 XYLT1 Desbuquois dysplasia DBQD2 Desbuquois dysplasia 2 MONDO:0014344 Any congenital heart defects, multiple types in which the cause of the disease is a mutation in the NR2F2 gene. https://github.com/monarch-initiative/mondo/issues/4069 NR2F2 congenital heart defects, multiple types congenital heart defects, multiple types caused by mutation in NR2F2 congenital heart defects, multiple types, 4 CHTD4 congenital heart defects, multiple types, 4 MONDO:0014345 Any retinitis pigmentosa in which the cause of the disease is a mutation in the KIZ gene. KIZ retinitis pigmentosa RP69 retinitis pigmentosa 69 retinitis pigmentosa caused by mutation in KIZ retinitis pigmentosa type 69 retinitis pigmentosa 69 MONDO:0014346 White sponge Nevus type 2 white sponge nevus 2 WHITE sponge NEVUS 2 WSN2 white sponge nevus 2 MONDO:0014347 https://github.com/monarch-initiative/mondo/issues/4948 short stature with microcephaly and distinctive facies short stature with microcephaly and distinctive facies MONDO:0014348 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PGAP1 gene. https://github.com/monarch-initiative/mondo/issues/4521 PGAP1 autosomal recessive non-syndromic intellectual disability autosomal recessive non-syndromic intellectual disability caused by mutation in PGAP1 intellectual disability, autosomal recessive 42 intellectual disability, autosomal recessive type 42 mental retardation, autosomal recessive type 42 neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities MRT42 glycosylphosphatidylinositol biosynthesis defect 9 mental retardation, autosomal recessive 42 intellectual disability, autosomal recessive 42 MONDO:0014349 Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the CLP1 gene. CLP1 non-syndromic pontocerebellar hypoplasia CLP1-related pontocerebellar hypoplasia PCH10 non-syndromic pontocerebellar hypoplasia caused by mutation in CLP1 pontocerebellar hypoplasia, type 10 pontocerebellar hypoplasia type 10 MONDO:0014350 Any Seckel syndrome in which the cause of the disease is a mutation in the DNA2 gene. https://github.com/monarch-initiative/mondo/issues/4948 DNA2 Seckel syndrome SCKL8 Seckel syndrome 8 Seckel syndrome caused by mutation in DNA2 Seckel syndrome type 8 Seckel syndrome 8 MONDO:0014351 Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the AMPD2 gene. AMPD2 non-syndromic pontocerebellar hypoplasia PCH9 non-syndromic pontocerebellar hypoplasia caused by mutation in AMPD2 pontocerebellar hypoplasia, type 9 pontocerebellar hypoplasia type 9 MONDO:0014352 Any metabolic syndrome in which the cause of the disease is a mutation in the DYRK1B gene. DYRK1B metabolic syndrome abdominal obesity-metabolic syndrome 3 abdominal obesity-metabolic syndrome type 3 metabolic syndrome caused by mutation in DYRK1B AOMS3 central obesity, type 2 diabetes, hypertension, and early-onset coronary artery disease abdominal obesity-metabolic syndrome 3 MONDO:0014353 https://github.com/monarch-initiative/mondo/issues/3799 CID due to PGM3 deficiency IMD23 PGM3-CDG PGM3-EXACT congenital disorder of glycosylation combined immunodeficiency due to PGM3 deficiency combined inflammatory and immunologic defect immunodeficiency 23 immunodeficiency type 23 immunodeficiency with hyper IgE and cognitive impairment immunodeficiency-vasculitis-myoclonus syndrome phosphoglucomutase 3 deficiency phosphoglucomutase deficiency type 3 immunodeficiency 23 MONDO:0014354 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the WASHC4 gene. https://github.com/monarch-initiative/mondo/issues/4521 WASHC4 autosomal recessive non-syndromic intellectual disability autosomal recessive non-syndromic intellectual disability caused by mutation in WASHC4 intellectual developmental disorder, autosomal recessive 43 intellectual disability, autosomal recessive 43 intellectual disability, autosomal recessive type 43 mental retardation, autosomal recessive type 43 MRT43 mental retardation, autosomal recessive 43 intellectual disability, autosomal recessive 43 MONDO:0014355 https://github.com/monarch-initiative/mondo/issues/4521 cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis DCWHKTA cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis MONDO:0014356 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC2 gene. UQCC2 mitochondrial complex III deficiency mitochondrial complex III deficiency caused by mutation in UQCC2 MC3DN7 mitochondrial Complex 3 deficiency, nuclear type 7 mitochondrial complex III deficiency, nuclear type 7 mitochondrial complex III deficiency nuclear type 7 MONDO:0014357 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DEAF1 gene. https://github.com/monarch-initiative/mondo/issues/4521 DEAF1 autosomal dominant non-syndromic intellectual disability MRD24 Vulto-van Silfout-de Vries syndrome autosomal dominant intellectual disability 24 autosomal dominant mental retardation 24 autosomal dominant non-syndromic intellectual disability caused by mutation in DEAF1 intellectual disability, autosomal dominant 24 intellectual disability, autosomal dominant type 24 mental retardation, autosomal dominant type 24 autosomal dominant non-syndromic intellectual disability 24 mental retardation, autosomal dominant 24 intellectual disability, autosomal dominant 24 MONDO:0014358 https://github.com/monarch-initiative/mondo/issues/5588 AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome MRD25 Xia-Gibbs syndrome autosomal dominant intellectual disability 25 autosomal dominant mental retardation 25 intellectual disability, autosomal dominant 25 mental retardation, autosomal dominant 25 AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome MONDO:0014359 Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKACA gene. https://github.com/monarch-initiative/mondo/issues/4521 Cushing syndrome, ACTH-independent adrenal, somatic PRKACA primary pigmented nodular adrenocortical disease pigmented nodular adrenocortical disease, primary, 4 pigmented nodular adrenocortical disease, primary, type 4 primary pigmented nodular adrenocortical disease caused by mutation in PRKACA ACTH-independent adrenal Cushing syndrome, somatic Cushing syndrome, adrenal, due to Ppnad4 PPNAD4 chromosome 19P13 Duplication syndrome pigmented nodular adrenocortical disease, primary, 4 MONDO:0014360 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the NECAP1 gene. https://github.com/monarch-initiative/mondo/issues/4521 DEE21 EIEE21 NECAP1 early infantile epileptic encephalopathy developmental and epileptic encephalopathy 21 early infantile epileptic encephalopathy caused by mutation in NECAP1 epileptic encephalopathy, early infantile, 21 epileptic encephalopathy, early infantile, type 21 developmental and epileptic encephalopathy, 21 MONDO:0014361 Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 ASD due to AUTS2 deficiency AUTS2 syndrome MRD26 autism spectrum disorder due to AUTS2 deficiency autosomal dominant mental retardation 26 autosomal dominant non-syndromic intellectual disability 26 intellectual developmental disorder, autosomal dominant 26 intellectual disability type 26 mental retardation, autosomal dominant 26 mental retardation, autosomal dominant type 26 autism spectrum disorder due to AUTS2 deficiency MONDO:0014362 chromosome 16 inversion, 0.45-Mb chromosome 16 inversion, 0.45-Mb MONDO:0014363 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR2 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB101 GRXCR2 autosomal recessive nonsyndromic deafness autosomal recessive deafness 101 autosomal recessive nonsyndromic deafness 101 autosomal recessive nonsyndromic deafness caused by mutation in GRXCR2 autosomal recessive nonsyndromic deafness type 101 deafness, autosomal recessive 101 deafness, autosomal recessive type 101 autosomal recessive nonsyndromic hearing loss 101 MONDO:0014364 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the LYRM7 gene. LYRM7 mitochondrial complex III deficiency mitochondrial complex III deficiency caused by mutation in LYRM7 mitochondrial complex III deficiency nuclear type 8 MC3DN8 mitochondrial Complex 3 deficiency, nuclear type 8 mitochondrial complex III deficiency, nuclear type 8 mitochondrial complex III deficiency nuclear type 8 MONDO:0014365 Any azoospermia in which the cause of the disease is a mutation in the TAF4B gene. TAF4B azoospermia azoospermia caused by mutation in TAF4B spermatogenic failure 13 spermatogenic failure type 13 SPGF13 spermatogenic failure 13 MONDO:0014366 Any azoospermia in which the cause of the disease is a mutation in the ZMYND15 gene. ZMYND15 azoospermia azoospermia caused by mutation in ZMYND15 spermatogenic failure 14 spermatogenic failure type 14 SPGF14 spermatogenic failure 14 MONDO:0014367 Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the IFIH1 gene. Aicardi-Goutieres syndrome 7 Aicardi-Goutieres syndrome caused by mutation in IFIH1 Aicardi-Goutieres syndrome type 7 IFIH1 Aicardi-Goutieres syndrome AGS7 Aicardi-Goutieres syndrome 7 MONDO:0014368 melanoma, cutaneous malignant, susceptibility to, 10 melanoma, cutaneous malignant, susceptibility to, type 10 CMM10 susceptibility to cutaneous malignant melanoma 10 melanoma, cutaneous malignant, susceptibility to, 10 MONDO:0014369 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination. CJS Culler-Jones syndrome Pallister-Hall syndrome 2 Pallister-Hall syndrome 2, formerly postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome MONDO:0014370 Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VPS53 gene. VPS53 non-syndromic pontocerebellar hypoplasia non-syndromic pontocerebellar hypoplasia caused by mutation in VPS53 pontocerebellar hypoplasia type 2E PCH2E pontocerebellar hypoplasia, type 2E pontocerebellar hypoplasia type 2E MONDO:0014371 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 EIEE23 developmental and epileptic encephalopathy 23 developmental and epileptic encephalopathy, 23 early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome epileptic encephalopathy, early infantile, 23 epileptic encephalopathy, early infantile, type 23 developmental and epileptic encephalopathy, 23 MONDO:0014372 Any cone-rod dystrophy in which the cause of the disease is a mutation in the TTLL5 gene. CORD19 TTLL5 cone-rod dystrophy cone-rod dystrophy 19 cone-rod dystrophy caused by mutation in TTLL5 cone-rod dystrophy type 19 cone-rod dystrophy 19 MONDO:0014373 Any nephrotic syndrome in which the cause of the disease is a mutation in the EMP2 gene. EMP2 nephrotic syndrome nephrotic syndrome caused by mutation in EMP2 nephrotic syndrome, type 10 NPHS10 nephrotic syndrome, type 10 MONDO:0014374 Any nephronophthisis in which the cause of the disease is a mutation in the CEP83 gene. CEP83 nephronophthisis (disease) NPHP18 nephronophthisis (disease) caused by mutation in CEP83 nephronophthisis 18 nephronophthisis type 18 nephronophthisis 18 MONDO:0014375 Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 DGAT1 congenital diarrhea congenital chronic diarrhea with exudative enteropathy congenital chronic diarrhea with protein-losing enteropathy congenital diarrhea caused by mutation in DGAT1 diarrhea 7, protein-losing enteropathy type diarrhea type 7 DIAR7 diarrhea 7 congenital diarrhea 7 with exudative enteropathy MONDO:0014376 CSS9 Coffin-Siris syndrome 9 MRD27 autosomal dominant intellectual disability 27 autosomal dominant mental retardation 27 intellectual disability, autosomal dominant 27 intellectual disability, autosomal dominant type 27 mental retardation, autosomal dominant type 27 autosomal dominant non-syndromic intellectual disability 27 mental retardation, autosomal dominant 27 intellectual disability, autosomal dominant 27 MONDO:0014377 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the HCN1 gene. https://github.com/monarch-initiative/mondo/issues/4521 DEE24 EIEE24 HCN1 early infantile epileptic encephalopathy developmental and epileptic encephalopathy 24 early infantile epileptic encephalopathy caused by mutation in HCN1 epileptic encephalopathy, early infantile, 24 epileptic encephalopathy, early infantile, type 24 developmental and epileptic encephalopathy, 24 MONDO:0014378 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCNO gene. CCNO primary ciliary dyskinesia CILD29 ciliary dyskinesia, primary, type 29 primary ciliary dyskinesia 29 without situs inversus primary ciliary dyskinesia caused by mutation in CCNO primary ciliary dyskinesia type 29 ciliary dyskinesia, primary, 29 ciliary dyskinesia, primary, 29, without situs inversus primary ciliary dyskinesia 29 MONDO:0014379 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13. https://github.com/monarch-initiative/mondo/issues/5588 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder HVDAS MRD28 autosomal dominant intellectual disability 28 autosomal dominant mental retardation 28 ADNP syndrome Helsmoortel-VAN DER AA syndrome intellectual disability, autosomal dominant 28 mental retardation, autosomal dominant 28 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder MONDO:0014380 Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present. microphthalmia, syndromic type 14 microphthalmia-coloboma-rhizomelic skeletal dysplasia MCOPS14 MCSKS microphthalmia and coloboma, with or without rhizomelic skeletal dysplasia microphthalmia or coloboma with or without rhizomelic skeletal dysplasia microphthalmia, syndromic 14 microphthalmia/coloboma and skeletal dysplasia syndrome colobomatous microphthalmia-rhizomelic dysplasia syndrome MONDO:0014381 Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the TJP2 gene. PFIC4 TJP2 deficit TJP2 progressive familial intrahepatic cholestasis cholestasis, progressive familial intrahepatic, 4 cholestasis, progressive familial intrahepatic, type 4 progressive familial intrahepatic cholestasis caused by mutation in TJP2 progressive familial intrahepatic cholestasis type 4 cholestasis, progressive familial intrahepatic 4 progressive familial intrahepatic cholestasis 4 cholestasis, progressive familial intrahepatic, 4 MONDO:0014382 A rare multiple congenital anomalies syndrome characterized by greater hight, mild to moderate intellectual disability and distinctive facial appereance like round face, heavy, horizontal eyebrows and narrow palpebral fissures. https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5588 DNMT3A-related overgrowth syndrome Tatton-Brown-Rahman overgrowth syndrome tall stature-intellectual disability-facial dysmorphism syndrome TATTON-BROWN-Rahman syndrome TBRS tall stature-intellectual disability-facial dysmorphism syndrome MONDO:0014383 Any tubular aggregate myopathy in which the cause of the disease is a mutation in the ORAI1 gene. ORAI1 tubular aggregate myopathy myopathy, tubular aggregate, 2 myopathy, tubular aggregate, type 2 tubular aggregate myopathy caused by mutation in ORAI1 TAM2 myopathy, tubular aggregate, 2 MONDO:0014384 Any hypotrichosis in which the cause of the disease is a mutation in the RPL21 gene. RPL21 hypotrichosis hypotrichosis 12 hypotrichosis caused by mutation in RPL21 hypotrichosis type 12 hypt12 HYPT12 hypotrichosis 12 MONDO:0014385 Any amelogenesis imperfecta in which the cause of the disease is a mutation in the SLC24A4 gene. https://github.com/monarch-initiative/mondo/issues/4521 AI2A5 SLC24A4 amelogenesis imperfecta amelogenesis imperfecta caused by mutation in SLC24A4 amelogenesis imperfecta hypomaturation type IIA5 amelogenesis imperfecta type IIA5 amelogenesis imperfecta, type IIA5 amelogenesis imperfecta, hypomaturation type, IIA5 amelogenesis imperfecta hypomaturation type 2A5 MONDO:0014386 Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported. BDPLT18 RASGRP2 inherited bleeding disorder, platelet-type bleeding disorder due to CalDAG-GEFI deficiency bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency inherited bleeding disorder, platelet-type caused by mutation in RASGRP2 platelet-type bleeding disorder 18 bleeding disorder, platelet-type, 18 platelet-type bleeding disorder 18 MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure LKENP leukoencephalopathy, progressive, with ovarian failure MONDO:0014388 Familial median cleft of the upper and lower lips is a rare and isolated orofacial defect characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family. OFC14 orofacial cleft 14 familial median cleft of the upper and lower lips MONDO:0014389 A rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported. https://github.com/monarch-initiative/mondo/issues/2668 https://github.com/monarch-initiative/mondo/issues/4985 PGBM1 polyglucosan body myopathy 1 with or without immunodeficiency polyglucosan body myopathy type 1 polyglucosan body myopathy, early-onset, with or without immunodeficiency polyglucosan body myopathy 1 with or without immunodeficiency MONDO:0014390 Any hypotrichosis in which the cause of the disease is a mutation in the KRT71 gene. KRT71 hypotrichosis hypotrichosis 13 hypotrichosis caused by mutation in KRT71 hypotrichosis type 13 hypotrichosis with woolly hair hypt13 HYPT13 hypotrichosis 13 MONDO:0014391 Severe combined immunodeficiency (SCID) due to CTPS1 deficiency is a rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV), (including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens. SCID due to CTPS1 deficiency immunodeficiency type 24 IMD24 immunodeficiency 24 severe combined immunodeficiency due to CTPS1 deficiency MONDO:0014392 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC13A5 gene. https://github.com/monarch-initiative/mondo/issues/4521 DEE25 EIEE25 SLC13A5 early infantile epileptic encephalopathy developmental and epileptic encephalopathy 25, with amelogenesis imperfecta developmental and epileptic encephalopathy, 25 early infantile epileptic encephalopathy 25 early infantile epileptic encephalopathy caused by mutation in SLC13A5 epileptic encephalopathy, early infantile, 25 epileptic encephalopathy, early infantile, type 25 SLC13A5 deficiency developmental and epileptic encephalopathy, 25 https://rarediseases.info.nih.gov/diseases/12901/early-infantile-epileptic-encephalopathy-25 MONDO:0014393 Any hereditary lymphedema in which the cause of the disease is a mutation in the VEGFC gene. VEGFC hereditary lymphedema hereditary lymphedema caused by mutation in VEGFC lymphedema, hereditary, 1D lymphedema, hereditary, type 1D LMPH1D lymphatic malformation 4 MONDO:0014394 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS29 gene. Diamond-Blackfan Anemia type 13 Diamond-Blackfan anemia 13 Diamond-Blackfan anemia caused by mutation in RPS29 RPS29 Diamond-Blackfan anemia DBA13 Diamond-Blackfan anemia 13 MONDO:0014395 An amyotrophic lateral sclerosis that has material basis in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis. FTDALS2 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 frontotemporal dementia and/or amyotrophic lateral sclerosis type 2 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 MONDO:0014396 Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RAF1 gene. CMD1NN RAF1 familial isolated dilated cardiomyopathy cardiomyopathy, dilated, type 1Nn dilated cardiomyopathy type 1NN familial isolated dilated cardiomyopathy caused by mutation in RAF1 cardiomyopathy, dilated, 1NN dilated cardiomyopathy 1NN MONDO:0014397 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the VARS2 gene. COXPD20 VARS2 combined oxidative phosphorylation deficiency combined oxidative phosphorylation deficiency caused by mutation in VARS2 combined oxidative phosphorylation deficiency type 20 combined oxidative phosphorylation deficiency 20 combined oxidative phosphorylation defect type 20 MONDO:0014398 Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver. COXPD21 TARS2 combined oxidative phosphorylation deficiency combined oxidative phosphorylation deficiency caused by mutation in TARS2 combined oxidative phosphorylation deficiency type 21 combined oxidative phosphorylation deficiency 21 combined oxidative phosphorylation defect type 21 MONDO:0014399 https://github.com/monarch-initiative/mondo/issues/5588 ataxia-telangiectasia-like disorder 2 ataxia-telangiectasia-like disorder type 2 ATLD2 PCNA-related progressive neurodegenerative photosensitivity syndrome ataxia-telangiectasia-like disorder 2 MONDO:0014400 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF4 gene. PRPF4 retinitis pigmentosa RP70 retinitis pigmentosa 70 retinitis pigmentosa caused by mutation in PRPF4 retinitis pigmentosa type 70 retinitis pigmentosa 70 MONDO:0014401 Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis. https://github.com/monarch-initiative/mondo/issues/4948 tall stature-scoliosis-macrodactyly of the halluces syndrome ECDM Miura type epiphyseal chondrodysplasia epiphyseal chondrodysplasia, MIURA type tall stature-scoliosis-macrodactyly of the great toes syndrome MONDO:0014402 https://github.com/monarch-initiative/mondo/issues/5671 severe neurodegenerative syndrome due to BSCL2 deficiency PELD encephalopathy, progressive, with or without lipodystrophy severe neurodegenerative syndrome with lipodystrophy MONDO:0014403 Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported. ghrelin receptor deficiency short stature due to growth hormone secretagogue receptor deficiency GHDP growth hormone deficiency, isolated partial short stature due to GHSR deficiency MONDO:0014404 Webb-Dattani syndrome hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome WEBB-Dattani syndrome WEDAS hypothalamo-pituitary-frontotemporal hypoplasia with visual and renal anomalies Webb-Dattani syndrome MONDO:0014405 STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation. SAVI STING-associated vasculopathy, infantile-onset STING-associated vasculopathy with onset in infancy https://rarediseases.info.nih.gov/diseases/12357/sting-associated-vasculopathy-with-onset-in-infancy MONDO:0014406 Any pancreatic agenesis in which the cause of the disease is a mutation in the PTF1A gene. PTF1A pancreatic agenesis pancreatic agenesis 2 pancreatic agenesis caused by mutation in PTF1A pancreatic agenesis type 2 PAGEN2 pancreatic hypoplasia, congenital 2 pancreatic agenesis 2 MONDO:0014407 Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the AKT3 gene. AKT3 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in AKT3 MPPH2 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 MONDO:0014408 Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the CCND2 gene. CCND2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 3 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in CCND2 MPPH3 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 MONDO:0014409 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the METTL23 gene. METTL23 autosomal recessive non-syndromic intellectual disability autosomal recessive non-syndromic intellectual disability caused by mutation in METTL23 intellectual disability, autosomal recessive 44 intellectual disability, autosomal recessive type 44 mental retardation, autosomal recessive type 44 MRT44 mental retardation, autosomal recessive 44 intellectual disability, autosomal recessive 44 MONDO:0014410 Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by a cerebellar syndrome along with altered vertical eye movements. SCA37 spinocerebellar ataxia with altered vertical eye movements spinocerebellar ataxia 37 spinocerebellar ataxia type 37 MONDO:0014411 myopia 24, autosomal dominant MYP24 myopia 24, autosomal dominant MONDO:0014412 Any familial hyperlipidemia in which the cause of the disease is a mutation in the GPIHBP1 gene. GPIHBP1 familial hyperlipidemia familial hyperlipidemia caused by mutation in GPIHBP1 hyperlipoproteinemia, type 1D hyperlipoproteinemia, type ID hyperlipoproteinemia, type 1D MONDO:0014413 Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated. https://github.com/monarch-initiative/mondo/issues/5588 C2CD3 orofaciodigital syndrome OFD14 microcephaly-cerebral malformation-orofaciodigital syndrome oral-facial-digital syndrome type 14 orofaciodigital syndrome caused by mutation in C2CD3 orofaciodigital syndrome type 14 orofaciodigital syndrome 14 orofaciodigital syndrome XIV orofaciodigital syndrome type 14 MONDO:0014414 ADMIO ADMIO1 autoimmune disease, multisystem, infantile-onset autoimmune disease, multisystem, infantile-onset, 1 STAT3-related early-onset multisystem autoimmune disease MONDO:0014415 https://github.com/monarch-initiative/mondo/issues/4521 kallikrein, decreased urinary activity of kallikrein, decreased urinary activity of MONDO:0014416 Any Cushing syndrome due to macronodular adrenal hyperplasia in which the cause of the disease is a mutation in the ARMC5 gene. https://github.com/monarch-initiative/mondo/issues/4521 ACTH-independent macronodular adrenal hyperplasia 2 ACTH-independent macronodular adrenal hyperplasia 2, autosomal dominant, somatic mutation ACTH-independent macronodular adrenal hyperplasia type 2 ARMC5 Cushing syndrome due to macronodular adrenal hyperplasia Cushing syndrome due to macronodular adrenal hyperplasia caused by mutation in ARMC5 AIMAH2 primary macronodular adrenal hyperplasia ACTH-independent macronodular adrenal hyperplasia 2 MONDO:0014417 Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy. SCA38 spinocerebellar ataxia type 38 spinocerebellar ataxia 38 spinocerebellar ataxia type 38 MONDO:0014418 Any autosomal recessive centronuclear myopathy in which the cause of the disease is a mutation in the SPEG gene. https://github.com/monarch-initiative/mondo/issues/4521 SPEG autosomal recessive centronuclear myopathy autosomal recessive centronuclear myopathy caused by mutation in SPEG centronuclear myopathy 5 myopathy, centronuclear, 5 myopathy, centronuclear, type 5 CNM5 myopathy, centronuclear, 5 MONDO:0014419 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development, and intellectual disability in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy, and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease. https://github.com/monarch-initiative/mondo/issues/5588 Poretti-Boltshauser syndrome ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome PORETTI-Boltshauser syndrome PTBHS ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014420 Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity. https://github.com/monarch-initiative/mondo/issues/4521 acid-labile subunit, deficiency of ACLSD acid-labile SUBUNIT deficiency short stature due to primary acid-labile subunit deficiency MONDO:0014421 GCCR Gccr deficiency Gcr deficiency Grl deficiency cortisol resistance from glucocorticoid receptor defect glucocorticoid receptor deficiency glucocorticoid resistance, generalized glucocorticoid resistance https://rarediseases.info.nih.gov/diseases/2499/glucocorticoid-resistance MONDO:0014422 Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene. TNXB vesicoureteral reflux (disease) vesicoureteral reflux (disease) caused by mutation in TNXB vesicoureteral reflux 8 vesicoureteral reflux type 8 VUR8 vesicoureteral reflux 8 MONDO:0014423 Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation. https://github.com/monarch-initiative/mondo/issues/4521 SCID due to DNA-PKcs deficiency immunodeficiency 26, with or without neurologic abnormalities IMD26 immunodeficiency 26 with or without neurologic abnormalities severe combined immunodeficiency due to DNA-PKcs deficiency MONDO:0014426 Any nanophthalmia in which the cause of the disease is a mutation in the TMEM98 gene. TMEM98 nanophthalmia nanophthalmia caused by mutation in TMEM98 nanophthalmos 4 nanophthalmos type 4 NNO4 Nanophthalmia 4 nanophthalmos 4 MONDO:0014427 Any cone-rod dystrophy in which the cause of the disease is a mutation in the POC1B gene. CORD20 POC1B cone-rod dystrophy cone-rod dystrophy 20 cone-rod dystrophy caused by mutation in POC1B cone-rod dystrophy type 20 cone-rod dystrophy 20 MONDO:0014428 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the EPS8 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB102 EPS8 autosomal recessive nonsyndromic deafness autosomal recessive deafness 102 autosomal recessive nonsyndromic deafness 102 autosomal recessive nonsyndromic deafness caused by mutation in EPS8 autosomal recessive nonsyndromic deafness type 102 deafness, autosomal recessive 102 deafness, autosomal recessive type 102 autosomal recessive nonsyndromic hearing loss 102 MONDO:0014429 A genetic variant of Mendelian susceptibility to mycobacterial disease characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM). https://github.com/monarch-initiative/mondo/issues/4521 IFNGR1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency IFNGR1 deficiency, autosomal dominant IMD27B autosomal dominant MSMD due to partial IFNgammaR1 deficiency autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency immunodeficiency 27B immunodeficiency 27B, Mycobacteriosis, autosomal dominant immunodeficiency 27B, mycobacteriosis, AD immunodeficiency type 27B autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency MONDO:0014430 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FBXO31 gene. FBXO31 autosomal recessive non-syndromic intellectual disability autosomal recessive non-syndromic intellectual disability caused by mutation in FBXO31 intellectual disability, autosomal recessive 45 intellectual disability, autosomal recessive type 45 mental retardation, autosomal recessive type 45 MRT45 mental retardation, autosomal recessive 45 intellectual disability, autosomal recessive 45 MONDO:0014431 FPLD6 LIPE-related FPLD familial partial lipodystrophy associated with LIPE mutations familial partial lipodystrophy type 6 lipodystrophy, familial partial, associated with Lipe mutations lipodystrophy, familial partial, type 6 LIPE-related familial partial lipodystrophy https://rarediseases.info.nih.gov/diseases/13126/lipe-related-familial-partial-lipodystrophy MONDO:0014432 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS2 gene. BBS2 BBS2 Bardet-Biedl syndrome Bardet-Biedl syndrome 2 Bardet-Biedl syndrome caused by mutation in BBS2 Bardet-Biedl syndrome type 2 BBS Bardet-Biedl syndrome Bardet-Biedl syndrome 2 MONDO:0014433 BBS4 Bardet-Biedl syndrome 4 Bardet-Biedl syndrome type 4 Bardet-Biedl syndrome 4 https://rarediseases.info.nih.gov/diseases/823/bardet-biedl-syndrome-4 MONDO:0014434 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS5 gene. BBS5 BBS5 Bardet-Biedl syndrome Bardet-Biedl syndrome 5 Bardet-Biedl syndrome caused by mutation in BBS5 Bardet-Biedl syndrome type 5 Bardet-Biedl syndrome 5 https://rarediseases.info.nih.gov/diseases/10204/bardet-biedl-syndrome-5 MONDO:0014435 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS7 gene. BBS7 BBS7 Bardet-Biedl syndrome Bardet-Biedl syndrome 7 Bardet-Biedl syndrome caused by mutation in BBS7 Bardet-Biedl syndrome type 7 Bardet-Biedl syndrome 7 https://rarediseases.info.nih.gov/diseases/10206/bardet-biedl-syndrome-7 MONDO:0014436 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TTC8 gene. BBS8 Bardet-Biedl syndrome 8 Bardet-Biedl syndrome caused by mutation in TTC8 Bardet-Biedl syndrome type 8 TTC8 Bardet-Biedl syndrome Bardet-Biedl syndrome 8 https://rarediseases.info.nih.gov/diseases/10207/bardet-biedl-syndrome-8 MONDO:0014437 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS9 gene. BBS9 BBS9 Bardet-Biedl syndrome Bardet-Biedl syndrome 9 Bardet-Biedl syndrome caused by mutation in BBS9 Bardet-Biedl syndrome type 9 Bardet-Biedl syndrome 9 https://rarediseases.info.nih.gov/diseases/10208/bardet-biedl-syndrome-9 MONDO:0014438 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS10 gene. BBS10 BBS10 Bardet-Biedl syndrome Bardet-Biedl syndrome 10 Bardet-Biedl syndrome caused by mutation in BBS10 Bardet-Biedl syndrome type 10 Bardet-Biedl syndrome 10 MONDO:0014439 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TRIM32 gene. BBS11 Bardet-Biedl syndrome 11 Bardet-Biedl syndrome caused by mutation in TRIM32 Bardet-Biedl syndrome type 11 TRIM32 Bardet-Biedl syndrome Bardet-Biedl syndrome 11 MONDO:0014440 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS12 gene. BBS12 BBS12 Bardet-Biedl syndrome Bardet-Biedl syndrome 12 Bardet-Biedl syndrome caused by mutation in BBS12 Bardet-Biedl syndrome type 12 Bardet-Biedl syndrome 12 MONDO:0014441 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the MKS1 gene. BBS13 Bardet-Biedl syndrome 13 Bardet-Biedl syndrome caused by mutation in MKS1 Bardet-Biedl syndrome type 13 MKS1 Bardet-Biedl syndrome Bardet-Biedl syndrome 13 MONDO:0014442 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the CEP290 gene on chromosome 12q21. https://github.com/monarch-initiative/mondo/issues/4521 BBS14 Bardet-Biedl syndrome 14 Bardet-Biedl syndrome 14, modifier of Bardet-Biedl syndrome type 14 Bardet-Biedl syndrome 14 MONDO:0014443 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the WDPCP gene. BBS15 Bardet-Biedl syndrome 15 Bardet-Biedl syndrome caused by mutation in WDPCP Bardet-Biedl syndrome type 15 WDPCP Bardet-Biedl syndrome Bardet-Biedl syndrome 15 MONDO:0014444 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene. BBS16 Bardet-Biedl syndrome 16 Bardet-Biedl syndrome caused by mutation in SDCCAG8 Bardet-Biedl syndrome type 16 SDCCAG8 Bardet-Biedl syndrome Bardet-Biedl syndrome 16 MONDO:0014445 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the LZTFL1 gene. BBS17 Bardet-Biedl syndrome 17 Bardet-Biedl syndrome caused by mutation in LZTFL1 Bardet-Biedl syndrome type 17 LZTFL1 Bardet-Biedl syndrome Bardet-Biedl syndrome 17 MONDO:0014446 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBIP1 gene. BBIP1 Bardet-Biedl syndrome BBS18 Bardet-Biedl syndrome 18 Bardet-Biedl syndrome caused by mutation in BBIP1 Bardet-Biedl syndrome type 18 Bardet-Biedl syndrome 18 MONDO:0014447 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT27 gene. BBS19 Bardet-Biedl syndrome 19 Bardet-Biedl syndrome caused by mutation in IFT27 Bardet-Biedl syndrome type 19 IFT27 Bardet-Biedl syndrome Bardet-Biedl syndrome 19 MONDO:0014448 An inherited autosomal dominant trait characterized by abnormally elevated levels of total serum thyroxine; (T4) in euthyroid patients with abnormal serum albumin that binds T4 with enhanced affinity. The serum levels of free T4, free T3, and tsh are normal. It is one of several T4 abnormalities produced by non-thyroid disorder. This condition is due to mutations of the alb gene on chromosome 4. https://github.com/monarch-initiative/mondo/issues/4521 bisalbuminemia dysalbuminemic hyperthyroxinemia dysalbuminemic hypertriiodothyroninemia familial Dysalbuminemic hyperthyroidism familial Dysalbuminemic hyperthyroxinemia hyperthyroxinemia, familial Dysalbuminemic hyperthyroxinemia, familial dysalbuminemic FDAH FDH euthyroid hyperthyroxinemia 1 hyperthyroxinemia, familial dysalbuminemic MONDO:0014449 Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA). https://github.com/monarch-initiative/mondo/issues/4069 ANALBA analbuminemia congenital analbuminemia https://rarediseases.info.nih.gov/diseases/13056/congenital-analbuminemia MONDO:0014450 Any isolated congenital breast hypoplasia/aplasia in which the cause of the disease is a mutation in the PTPRF gene. PTPRF isolated congenital breast hypoplasia/aplasia breasts and/or nipples, aplasia or hypoplasia of, 2 breasts and/or nipples, aplasia or hypoplasia of, type 2 isolated congenital breast hypoplasia/aplasia caused by mutation in PTPRF BNAH2 breasts and/or nipples, aplasia or hypoplasia of, 2 MONDO:0014451 Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the PAX2 gene. FSGS7 PAX2 focal segmental glomerulosclerosis focal segmental glomerulosclerosis 7 focal segmental glomerulosclerosis caused by mutation in PAX2 focal segmental glomerulosclerosis type 7 glomerulosclerosis, focal segmental, 7 focal segmental glomerulosclerosis 7 MONDO:0014452 Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen. https://github.com/monarch-initiative/mondo/issues/4521 dysfibrinogenemia familial dysfibrinogenemia hypodysfibrinogenemia congenital dysfibrinogenemia dysfibrinogenemia, congenital dysfibrinogenemia, familial hypodysfibrinogenemia, congenital familial dysfibrinogenemia https://rarediseases.info.nih.gov/diseases/2004/dysfibrinogenemia MONDO:0014453 immunodeficiency 36 immunodeficiency type 36 IMD36 immunodeficiency 36 MONDO:0014454 Any Hennekam syndrome in which the cause of the disease is a mutation in the FAT4 gene. FAT4 Hennekam syndrome Hennekam lymphangiectasia-lymphedema syndrome 2 Hennekam lymphangiectasia-lymphedema syndrome type 2 Hennekam syndrome caused by mutation in FAT4 HKLLS2 Hennekam lymphangiectasia-lymphedema syndrome 2 MONDO:0014455 https://github.com/monarch-initiative/mondo/issues/4948 CAGSSS cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome MONDO:0014456 https://github.com/monarch-initiative/mondo/issues/4069 SCN6 neutropenia, severe congenital, 6, autosomal recessive autosomal recessive severe congenital neutropenia due to JAGN1 deficiency MONDO:0014457 Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGW gene. PIGW hyperphosphatasia-intellectual disability syndrome hyperphosphatasia with intellectual disability syndrome 5 hyperphosphatasia with intellectual disability syndrome type 5 hyperphosphatasia with mental retardation syndrome 5 hyperphosphatasia with mental retardation syndrome type 5 hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGW GPIBD11 HPMRS5 glycosylphosphatidylinositol biosynthesis defect 11 hyperphosphatasia with intellectual disability syndrome 5 MONDO:0014458 Any Fanconi syndrome in which the cause of the disease is a mutation in the HNF4A gene. https://github.com/monarch-initiative/mondo/issues/4521 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young Fanconi syndrome caused by mutation in HNF4A HNF4A Fanconi syndrome fanconi renotubular syndrome 4, with maturity-onset diabetes of the young FRTS4 FRTS4 with MODY Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young MONDO:0014459 Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the NOTCH1 gene. https://github.com/monarch-initiative/mondo/issues/4948 Adams-Oliver syndrome 5 Adams-Oliver syndrome caused by mutation in NOTCH1 Adams-Oliver syndrome caused by mutation in Notch1 Adams-Oliver syndrome type 5 NOTCH1 Adams-Oliver syndrome Notch1 Adams-Oliver syndrome AOS5 Adams-Oliver syndrome 5 MONDO:0014460 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed. ectodermal dysplasia-short stature syndrome short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome ECTDS ectodermal dysplasia/short stature syndrome nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome MONDO:0014461 Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FEZF1 gene. https://github.com/monarch-initiative/mondo/issues/4521 FEZF1 hypogonadotropic hypogonadism hypogonadotropic hypogonadism 22 with or without anosmia hypogonadotropic hypogonadism 22, with or without anosmia hypogonadotropic hypogonadism caused by mutation in FEZF1 HH22 hypogonadotropic hypogonadism 22 with or without anosmia MONDO:0014462 Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ANLN gene. ANLN focal segmental glomerulosclerosis FSGS8 focal segmental glomerulosclerosis 8 focal segmental glomerulosclerosis caused by mutation in ANLN focal segmental glomerulosclerosis type 8 glomerulosclerosis, focal segmental, 8 focal segmental glomerulosclerosis 8 MONDO:0014464 Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop. 2,4-dienoyl-CoA reductase deficiency DECR deficiency with hyperlysinemia progressive encephalopathy with leukodystrophy due to DECR deficiency 2,4-alpha dienoyl-CoA reductase deficiency DECRD dienoyl-CoA reductase deficiency progressive encephalopathy with leukodystrophy due to DECR deficiency MONDO:0014465 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC151 gene. CCDC151 primary ciliary dyskinesia CILD30 ciliary dyskinesia, primary, type 30 primary ciliary dyskinesia 30 without situs inversus primary ciliary dyskinesia caused by mutation in CCDC151 primary ciliary dyskinesia type 30 ciliary dyskinesia, primary, 30 ciliary dyskinesia, primary, 30, with or without situs inversus primary ciliary dyskinesia 30 MONDO:0014466 Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PSAT1 gene. Neu-Laxova syndrome 2 Neu-Laxova syndrome caused by mutation in PSAT1 Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency Neu-Laxova syndrome type 2 PSAT1 Neu-Laxova syndrome phosphoserine aminotransferase deficiency, prenatal form NEU-Laxova syndrome 2 NLS2 Neu-Laxova syndrome 2 MONDO:0014467 Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the COX6A1 gene. CMTRID COX6A1 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease caused by mutation in COX6A1 Charcot-Marie-Tooth disease recessive intermediate type D Charcot-Marie-Tooth disease, recessive Intermediate type D RI-CMT type D autosomal recessive intermediate Charcot-Marie-Tooth disease type D Charcot-Marie-Tooth disease, recessive intermediate D Charcot-Marie-Tooth disease recessive intermediate D MONDO:0014468 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SYT2 gene. https://github.com/monarch-initiative/mondo/issues/4521 CMS7 SYT2 congenital myasthenic syndrome congenital myasthenic syndrome 7 presynaptic congenital myasthenic syndrome caused by mutation in SYT2 congenital myasthenic syndrome type 7 myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant myasthenic syndrome, congenital, 7, presynaptic myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy congenital myasthenic syndrome 7 MONDO:0014469 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLIC5 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 CLIC5 autosomal recessive nonsyndromic deafness DFNB103 autosomal recessive deafness 103 autosomal recessive nonsyndromic deafness 103 autosomal recessive nonsyndromic deafness caused by mutation in CLIC5 autosomal recessive nonsyndromic deafness type 103 deafness, autosomal recessive 103 deafness, autosomal recessive type 103 autosomal recessive nonsyndromic hearing loss 103 MONDO:0014470 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA65 TBC1D24 autosomal dominant nonsyndromic deafness autosomal dominant deafness 65 autosomal dominant nonsyndromic deafness 65 autosomal dominant nonsyndromic deafness caused by mutation in TBC1D24 autosomal dominant nonsyndromic deafness type 65 deafness, autosomal dominant 65 deafness, autosomal dominant type 65 autosomal dominant nonsyndromic hearing loss 65 MONDO:0014471 A rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS). mitochondrial complex V (ATP synthase) deficiency isolated ATP synthase deficiency isolated mitochondrial respiratory chain complex V deficiency Consider splitting out nuclear type for OMIMPS mitochondrial proton-transporting ATP synthase complex deficiency MONDO:0014472 NLRC4-related MAS NLRC4-related autoinflammatory syndrome with MAS NLRC4-related autoinflammatory syndrome with macrophage activation syndrome NLRC4-related infantile enterocolitis-autoinflammatory syndrome NLRC4-related macrophage activation syndrome autoinflammation with infantile enterocolitis AIFEC AUTOINFLAMMATION with infantile enterocolitis periodic fever-infantile enterocolitis-autoinflammatory syndrome MONDO:0014473 Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPE gene. https://github.com/monarch-initiative/mondo/issues/4948 CENPE autosomal recessive primary microcephaly autosomal recessive primary microcephaly caused by mutation in CENPE microcephaly 13, primary, autosomal recessive MCPH13 microcephaly 13, primary, autosomal recessive MONDO:0014474 Any autosomal recessive limb-girdle muscular dystrophy in which the cause of the disease is a mutation in the ISPD gene. ISPD autosomal recessive limb-girdle muscular dystrophy LGMD2U MDDGC7 autosomal recessive limb-girdle muscular dystrophy caused by mutation in ISPD autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency muscular dystrophy limb-girdle type 2U muscular dystrophy-dystroglycanopathy (limb-girdle) type C7 muscular dystrophy, limb-girdle, type 2U muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 autosomal recessive limb-girdle muscular dystrophy type 2U MONDO:0014475 Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis. SCA40 spinocerebellar ataxia type 40 spinocerebellar ataxia 40 spinocerebellar ataxia type 40 MONDO:0014476 episodic ataxia type 8 EA8 episodic ataxia with slurred speech episodic ataxia, type 8 episodic ataxia type 8 MONDO:0014477 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNB1 gene. https://github.com/monarch-initiative/mondo/issues/4521 DEE26 EIEE26 KCNB1 early infantile epileptic encephalopathy developmental and epileptic encephalopathy 26 early infantile epileptic encephalopathy 26 early infantile epileptic encephalopathy caused by mutation in KCNB1 epileptic encephalopathy, early infantile, 26 epileptic encephalopathy, early infantile, type 26 developmental and epileptic encephalopathy, 26 https://rarediseases.info.nih.gov/diseases/12391/early-infantile-epileptic-encephalopathy-26 MONDO:0014478 Any familial congenital mirror movements in which the cause of the disease is a mutation in the DNAL4 gene. DNAL4 familial congenital mirror movements familial congenital mirror movements caused by mutation in DNAL4 mirror movements 3 mirror movements type 3 MRMV3 mirror movements 3 MONDO:0014479 porokeratosis 8, disseminated superficial actinic type POROK8 porokeratosis 8, disseminated superficial actinic type MONDO:0014480 https://github.com/monarch-initiative/mondo/issues/4521 46,XY Sex reversal type 9 46,XY sex reversal 9 46XY sex reversal 9 46,XY SEX reversal 9 46,XY Sex reversal, Zfpm2-related SRXY9 46,XY sex reversal 9 MONDO:0014481 Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the EGFR gene. EGFR neonatal inflammatory skin and bowel disease inflammatory skin and bowel disease, neonatal, 2 inflammatory skin and bowel disease, neonatal, type 2 neonatal inflammatory skin and bowel disease caused by mutation in EGFR NISBD2 inflammatory skin and bowel disease, neonatal, 2 MONDO:0014482 Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the SETBP1 gene. MRD29 SETBP1 intellectual disability-expressive aphasia-facial dysmorphism syndrome autosomal dominant intellectual disability 29 autosomal dominant mental retardation 29 intellectual disability, autosomal dominant 29 intellectual disability, autosomal dominant type 29 intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in SETBP1 mental retardation, autosomal dominant type 29 SETBP1 disorder SETBP1 related developmental delay SETBP1-related disorder SETBP1-related intellectual disability autosomal dominant non-syndromic intellectual disability 29 mental retardation, autosomal dominant 29 intellectual disability, autosomal dominant 29 MONDO:0014483 retinal dystrophy with inner nuclear layer and ganglion cell anomalies RDGCA retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies MONDO:0014484 Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK6 gene. CDK6 autosomal recessive primary microcephaly autosomal recessive primary microcephaly caused by mutation in CDK6 microcephaly 12, primary, autosomal recessive MCPH12 microcephaly 12, primary, autosomal recessive MONDO:0014485 Any pontocerebellar hypoplasia type 1 in which the cause of the disease is a mutation in the EXOSC8 gene. EXOSC8 pontocerebellar hypoplasia type 1 pontocerebellar hypoplasia type 1 caused by mutation in EXOSC8 pontocerebellar hypoplasia, type 1C PCH1C hypomyelination with spinal muscular atrophy and cerebellar hypoplasia pontocerebellar hypoplasia, type 1C MONDO:0014486 Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the ZMYND11 gene. MRD30 ZMYND11 intellectual disability-expressive aphasia-facial dysmorphism syndrome autosomal dominant intellectual disability 30 autosomal dominant mental retardation 30 intellectual disability, autosomal dominant 30 intellectual disability, autosomal dominant type 30 intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in ZMYND11 mental retardation, autosomal dominant type 30 autosomal dominant non-syndromic intellectual disability 30 mental retardation, autosomal dominant 30 intellectual disability, autosomal dominant 30 MONDO:0014487 Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia, characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful. SIFD SIFD syndrome sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome MONDO:0014488 Any type 2 diabetes mellitus in which the cause of the disease is a mutation in the TBC1D4 gene. TBC1D4 type 2 diabetes mellitus diabetes mellitus, noninsulin-dependent, 5 diabetes mellitus, noninsulin-dependent, type 5 type 2 diabetes mellitus caused by mutation in TBC1D4 NIDDM5 diabetes mellitus, noninsulin-dependent, 5 MONDO:0014489 Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence. LGMD due to POMK deficiency MDDGC12 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12 muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related limb-girdle muscular dystrophy due to POMK deficiency MONDO:0014490 MCT1D monocarboxylate transporter 1 deficiency ketoacidosis due to monocarboxylate transporter-1 deficiency MONDO:0014491 Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL10 gene. BCL10 primary immunodeficiency disease immunodeficiency 37 immunodeficiency type 37 primary immunodeficiency disease caused by mutation in BCL10 IMD37 immunodeficiency 37 MONDO:0014492 Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/woolly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although woolly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent. KWWH type IV keratoderma with woolly hair type IV woolly hair-palmoplantar hyperkeratosis syndrome PPKWH palmoplantar keratoderma and woolly hair woolly hair-palmoplantar keratoderma syndrome MONDO:0014493 A somatic mutation in the CTLA4 gene resulting in only a single functional gene. Haploinsufficiency for CTLA4 is associated with autoimmune lymphoproliferative syndrome, type V. https://github.com/monarch-initiative/mondo/issues/4521 ALPS due to CTLA4 haploinsuffiency ALPS type 5 ALPS type V CTLA-4 haploinsufficiency with autoimmune infiltration disease CTLA4 haploinsufficiency autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency autoimmune lymphoproliferative syndrome type 5 autoimmune lymphoproliferative syndrome type V chai immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation ALPS5 CTLA4 haploinsufficiency with autoimmune infiltration autoimmune lymphoproliferative syndrome, type 5 autoimmune lymphoproliferative syndrome, type V autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency https://rarediseases.info.nih.gov/diseases/12316/autoimmune-lymphoproliferative-syndrome-due-to-ctla4-haploinsuffiency MONDO:0014494 Any generalized pustular psoriasis in which the cause of the disease is a mutation in the AP1S3 gene. AP1S3 generalized pustular psoriasis generalized pustular psoriasis caused by mutation in AP1S3 psoriasis 15, pustular, susceptibility to PSORS15 susceptibility to pustular psoriasis 15 psoriasis 15, pustular, susceptibility to MONDO:0014495 https://github.com/monarch-initiative/mondo/issues/5588 retinal dystrophy-juvenile cataract-short stature syndrome RDJCSS retinal dystrophy, juvenile cataracts, and short stature syndrome retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome MONDO:0014496 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC3 gene. UQCC3 mitochondrial complex III deficiency mitochondrial complex III deficiency caused by mutation in UQCC3 MC3DN9 mitochondrial Complex 3 deficiency, nuclear type 9 mitochondrial complex III deficiency, nuclear type 9 mitochondrial complex III deficiency nuclear type 9 MONDO:0014497 https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/5723 polyendocrine-polyneuropathy syndrome PEPNS polyendocrine-polyneuropathy syndrome MONDO:0014498 Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRC4 gene. NLRC4 familial cold autoinflammatory syndrome NLRC4-related familial cold autoinflammatory syndrome familial cold autoinflammatory syndrome 4 familial cold autoinflammatory syndrome caused by mutation in NLRC4 familial cold autoinflammatory syndrome type 4 FCAS4 familial cold autoinflammatory syndrome 4 MONDO:0014499 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NDST1 gene. NDST1 autosomal recessive non-syndromic intellectual disability autosomal recessive non-syndromic intellectual disability caused by mutation in NDST1 intellectual disability, autosomal recessive 46 intellectual disability, autosomal recessive type 46 mental retardation, autosomal recessive type 46 MRT46 mental retardation, autosomal recessive 46 intellectual disability, autosomal recessive 46 MONDO:0014500 Atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted. CARDIAC conduction disease with or without dilated cardiomyopathy CCDD familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease atrial conduction disease MONDO:0014501 macular degeneration, early-onset EOMD macular degeneration, early-onset MONDO:0014502 Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-GuC)rin (BCG) infections. https://github.com/monarch-initiative/mondo/issues/4521 ISG15 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency MSMD due to complete ISG15 deficiency autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in ISG15 immunodeficiency 38 IMD38 ISG15 deficiency, autosomal recessive immunodeficiency 38 with basal ganglia calcification immunodeficiency 38, Mycobacteriosis, autosomal recessive Editor note: In ORDO classified at type 1 interferonopathy but we exclude this, as it is an autoinflammatory disease Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency MONDO:0014503 Any autosomal recessive congenital cerebellar ataxia in which the cause of the disease is a mutation in the CWF19L1 gene. https://github.com/monarch-initiative/mondo/issues/5588 CWF19L1 autosomal recessive congenital cerebellar ataxia SCAR17 autosomal recessive congenital cerebellar ataxia caused by mutation in CWF19L1 autosomal recessive spinocerebellar ataxia type 17 spinocerebellar ataxia autosomal recessive type 17 spinocerebellar ataxia, autosomal recessive type 17 autosomal recessive cerebellar ataxia due to CWF19L1 deficiency spinocerebellar ataxia, autosomal recessive 17 autosomal recessive spinocerebellar ataxia 17 MONDO:0014504 Any Perrault syndrome in which the cause of the disease is a mutation in the TWNK gene. Perrault syndrome 5 Perrault syndrome caused by mutation in TWNK Perrault syndrome type 5 TWNK Perrault syndrome PRLTS5 Perrault syndrome 5 MONDO:0014505 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2B gene. https://github.com/monarch-initiative/mondo/issues/4521 DEE27 EIEE27 GRIN2B early infantile epileptic encephalopathy developmental and epileptic encephalopathy 27 early infantile epileptic encephalopathy caused by mutation in GRIN2B epileptic encephalopathy, early infantile, 27 epileptic encephalopathy, early infantile, type 27 developmental and epileptic encephalopathy, 27 MONDO:0014506 Any leukodystrophy in which the cause of the disease is a mutation in the RARS gene. https://github.com/monarch-initiative/mondo/issues/5588 HLD9 RARS leukodystrophy RARS-related autosomal recessive hypomyelinating leukodystrophy hypomyelinating leukodystrophy type 9 leukodystrophy caused by mutation in RARS leukodystrophy, hypomyelinating, type 9 leukodystrophy, hypomyelinating, 9 hypomyelinating leukodystrophy 9 MONDO:0014507 Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis. https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5588 Catel-Manzke syndrome Palatodigital syndrome, Catel-Manzke type Pierre Robin sequence-hyperphalangy-clinodactyly syndrome Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome index finger anomaly-Pierre Robin syndrome micrognathia digital syndrome CATMANS Catel Manzke syndrome Palatodigital syndrome Catel-Manzke type Pierre Robin syndrome with hyperphalangy and clinodactyly index finger anomaly with Pierre Robin syndrome Catel-Manzke syndrome https://rarediseases.info.nih.gov/diseases/28/catel-manzke-syndrome MONDO:0014508 Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG1 gene. IMPG1 vitelliform macular dystrophy macular dystrophy, vitelliform, 4 macular dystrophy, vitelliform, type 4 vitelliform macular dystrophy caused by mutation in IMPG1 VMD4 vitelliform macular dystrophy 4 MONDO:0014509 Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG2 gene. IMPG2 vitelliform macular dystrophy macular dystrophy, vitelliform, 5 macular dystrophy, vitelliform, type 5 vitelliform macular dystrophy caused by mutation in IMPG2 VMD5 vitelliform macular dystrophy 5 MONDO:0014510 https://github.com/monarch-initiative/mondo/issues/2632 https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5588 FAR1 deficiency fatty acyl-CoA reductase 1 deficiency fatty acyl-CoA reductase 1 disorder fatty acyl-CoA reductase 1 disorder or fatty acyl-CoA reductase 1 deficiency rhizomelic chondrodysplasia punctata type 4 severe intellectual disability-epilepsy-cataract syndrome due to FAR1 deficiency severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder PFCRD peroxisomal fatty acyl-CoA reductase 1 disorder fatty acyl-CoA reductase 1 deficiency MONDO:0014511 Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the IGHMBP2 gene. CMT2S Charcot-Marie-Tooth disease caused by mutation in IGHMBP2 Charcot-Marie-Tooth disease type 2S Charcot-Marie-Tooth neuropathy type 2S IGHMBP2 Charcot-Marie-Tooth disease autosomal recessive axonal Charcot-Marie-Tooth type 2S Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2S Charcot-Marie-Tooth disease, axonal, type 2S Charcot-Marie-Tooth neuropathy, type 2S Charcot-Marie-Tooth disease axonal type 2S MONDO:0014512 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy. https://github.com/monarch-initiative/mondo/issues/4521 MRD31 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation autosomal dominant intellectual disability 31 autosomal dominant mental retardation 31 intellectual disability, autosomal dominant type 31 mental retardation, autosomal dominant type 31 neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties autosomal dominant non-syndromic intellectual disability 31 intellectual disability, autosomal dominant 31 mental retardation, autosomal dominant 31 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation MONDO:0014513 Any nemaline myopathy in which the cause of the disease is a mutation in the LMOD3 gene. LMOD3 nemaline myopathy NEM10 nemaline myopathy 10 nemaline myopathy caused by mutation in LMOD3 nemaline myopathy type 10 nemaline myopathy 10 MONDO:0014514 Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MFAP5 gene. MFAP5 familial thoracic aortic aneurysm and aortic dissection aortic aneurysm, familial thoracic 9 aortic aneurysm, familial thoracic type 9 familial thoracic aortic aneurysm and aortic dissection caused by mutation in MFAP5 AAT9 aortic aneurysm, thoracic, with or without aortic dissection aortic aneurysm, familial thoracic 9 MONDO:0014515 macular dystrophy with central cone involvement CCMD macular dystrophy with central cone involvement MONDO:0014516 Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the PLK4 gene. PLK4 microcephaly and chorioretinopathy microcephaly and chorioretinopathy caused by mutation in PLK4 microcephaly and chorioretinopathy type 2 microcephaly and chorioretinopathy, autosomal recessive, type 2 MCCRP2 microcephaly and chorioretinopathy, autosomal recessive, 2 microcephaly and chorioretinopathy 2 MONDO:0014517 Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the STX1B gene. STX1B generalized epilepsy with febrile seizures plus STX1b generalized epilepsy with febrile seizures plus generalized epilepsy with febrile seizures plus caused by mutation in STX1B generalized epilepsy with febrile seizures plus caused by mutation in STX1b generalized epilepsy with febrile seizures plus, type 9 GEFSP9 Gefs+, type 9 generalized epilepsy with febrile seizures plus, type 9 MONDO:0014518 Any isolated hereditary giant platelet disorder in which the cause of the disease is a mutation in the PRKACG gene. BDPLT19 PRKACG isolated hereditary giant platelet disorder isolated hereditary giant platelet disorder caused by mutation in PRKACG severe autosomal recessive macrothrombocytopenia bleeding disorder, platelet-type, 19 platelet-type bleeding disorder 19 MONDO:0014519 https://github.com/monarch-initiative/mondo/issues/4882 chronic mountain sickness, susceptibility to Monge disease chronic mountain sickness, susceptibility to MONDO:0014520 ovarian dysgenesis type 4 ODG4 ovarian dysgenesis 4 46,XX ovarian dysgenesis-short stature syndrome MONDO:0014521 Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCNC1 gene. EPM7 KCNC1 progressive myoclonic epilepsy PME type 7 epilepsy, progressive myoclonic type 7 meak myoclonus epilepsy and ataxia due to potassium channel mutation progressive myoclonic epilepsy caused by mutation in KCNC1 progressive myoclonic epilepsy due to KV3.1 deficiency progressive myoclonus epilepsy type 7 epilepsy, progressive myoclonic 7 progressive myoclonic epilepsy type 7 MONDO:0014522 retinal dystrophy and obesity RDOB retinal dystrophy and obesity MONDO:0014523 https://github.com/monarch-initiative/mondo/issues/5723 combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome ACPHD ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome MONDO:0014524 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FMN2 gene. https://github.com/monarch-initiative/mondo/issues/4521 FMN2 autosomal recessive non-syndromic intellectual disability autosomal recessive non-syndromic intellectual disability caused by mutation in FMN2 intellectual developmental disorder, autosomal recessive 47 intellectual disability, autosomal recessive 47 intellectual disability, autosomal recessive type 47 mental retardation, autosomal recessive type 47 MRT47 mental retardation, autosomal recessive 47 intellectual disability, autosomal recessive 47 MONDO:0014525 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the GTPBP3 gene. https://github.com/monarch-initiative/mondo/issues/5588 COXPD23 GTPBP3 combined oxidative phosphorylation deficiency combined oxidative phosphorylation deficiency caused by mutation in GTPBP3 combined oxidative phosphorylation deficiency type 23 combined oxidative phosphorylation deficiency 23 combined oxidative phosphorylation defect type 23 MONDO:0014526 Any polyglucosan body myopathy in which the cause of the disease is a mutation in the GYG1 gene. https://github.com/monarch-initiative/mondo/issues/4985 GYG1 polyglucosan body myopathy polyglucosan body myopathy caused by mutation in GYG1 polyglucosan body myopathy type 2 PGBM2 polyglucosan body myopathy 2 polyglucosan body myopathy type 2 MONDO:0014527 Ruijs-Aalfs syndrome RJALS RUIJS-Aalfs syndrome progeroid features-hepatocellular carcinoma predisposition syndrome MONDO:0014528 A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has material basis in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO). caid syndrome chronic atrial and intestinal dysrhythmia chronic atrial dysrhythmia-intestinal motility disorder Cohesinopathy affecting heart and gut rhythm caid chronic atrial and intestinal dysrhythmia syndrome chronic atrial intestinal dysrhythmia syndrome chronic atrial and intestinal dysrhythmia MONDO:0014529 https://github.com/monarch-initiative/mondo/issues/5588 Cerebellofaciodental syndrome cerebellar-facial-dental syndrome CEREBELLOFACIODENTAL syndrome CFDS cerebellar-facial-dental syndrome MONDO:0014530 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected. GRID2 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome GRID2 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome SCAR18 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome caused by mutation in GRID2 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in GRID2 autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency autosomal recessive spinocerebellar ataxia type 18 spinocerebellar ataxia, autosomal recessive type 18 autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency spinocerebellar ataxia, autosomal recessive 18 autosomal recessive spinocerebellar ataxia 18 MONDO:0014531 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TUBA4A gene. ALS 22 TUBA4A amyotrophic lateral sclerosis amyotrophic lateral sclerosis 22 amyotrophic lateral sclerosis 22 with or without frontotemporal dementia amyotrophic lateral sclerosis caused by mutation in TUBA4A amyotrophic lateral sclerosis type 22 ALS22 amyotrophic lateral sclerosis type 22 MONDO:0014532 IMMD myopathy, isolated mitochondrial, autosomal dominant autosomal dominant mitochondrial myopathy with exercise intolerance MONDO:0014533 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the WWOX gene. https://github.com/monarch-initiative/mondo/issues/3829 https://github.com/monarch-initiative/mondo/issues/4521 DEE28 EIEE28 WOREE syndrome WWOX early infantile epileptic encephalopathy WWOX-related epileptic encephalopathy developmental and epileptic encephalopathy 28 early infantile epileptic encephalopathy caused by mutation in WWOX epileptic encephalopathy, early infantile, 28 epileptic encephalopathy, early infantile, type 28 developmental and epileptic encephalopathy, 28 MONDO:0014534 Any microlissencephaly in which the cause of the disease is a mutation in the KATNB1 gene. https://github.com/monarch-initiative/mondo/issues/4521 KATNB1 Microlissencephaly KATNB1 microlissencephaly Microlissencephaly caused by mutation in KATNB1 lissencephaly 6 with microcephaly lissencephaly 6, with microcephaly microlissencephaly caused by mutation in KATNB1 LIS6 lissencephaly 6 with microcephaly MONDO:0014535 hyperproinsulinemia hyperproinsulinemia MONDO:0014536 Any thrombocytopenia in which the cause of the disease is a mutation in the ETV6 gene. ETV6 thrombocytopenia thrombocytopenia 5 thrombocytopenia caused by mutation in ETV6 thrombocytopenia type 5 THC5 thrombocytopenia 5 with increased susceptibility to malignancy thrombocytopenia, autosomal dominant, 5 thrombocytopenia 5 MONDO:0014537 Any nephronophthisis in which the cause of the disease is a mutation in the DCDC2 gene. DCDC2 nephronophthisis (disease) NPHP19 nephronophthisis (disease) caused by mutation in DCDC2 nephronophthisis 19 nephronophthisis type 19 nephronophthisis 19 MONDO:0014538 Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the COL25A1 gene. https://github.com/monarch-initiative/mondo/issues/4069 COL25A1 congenital fibrosis of extraocular muscles congenital fibrosis of extraocular muscles caused by mutation in COL25A1 fibrosis of extraocular muscles, congenital, 5 fibrosis of extraocular muscles, congenital, type 5 CFEOM5 fibrosis of extraocular muscles, congenital, 5 MONDO:0014539 Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CRB2 gene. CRB2 focal segmental glomerulosclerosis FSGS9 focal segmental glomerulosclerosis 9 focal segmental glomerulosclerosis caused by mutation in CRB2 focal segmental glomerulosclerosis type 9 glomerulosclerosis, focal segmental, 9 focal segmental glomerulosclerosis 9 MONDO:0014540 Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ITGB6 gene. AI1H ITGB6 amelogenesis imperfecta amelogenesis imperfecta caused by mutation in ITGB6 amelogenesis imperfecta type IH amelogenesis imperfecta, type 1H amelogenesis imperfecta, type IH Not in the OMIM series. amelogenesis imperfecta type 1H MONDO:0014541 A cause of obesity that results from inheritance of two copies of chromosome 14 from the mother, and no copy of chromosome 14 from the father. https://github.com/monarch-initiative/mondo/issues/5588 mUPD14 syndrome maternal uniparental disomy chromosome 14 syndrome TEMPLE syndrome uniparental disomy, maternal, chromosome 14 motor developmental delay due to 14q32.2 paternally expressed gene defect MONDO:0014542 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the ALG14 gene. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 ALG14 congenital myasthenic syndrome CMS15 congenital myasthenic syndrome 15 without tubular aggregates congenital myasthenic syndrome caused by mutation in ALG14 congenital myasthenic syndrome type 15 myasthenic syndrome, congenital, 15, without tubular aggregates myasthenic syndrome, congenital, type 15 myasthenic syndrome, congenital, 15 myasthenic syndrome, congenital, without tubular aggregates congenital myasthenic syndrome 15 MONDO:0014543 Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the ALG2 gene. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 ALG2 congenital myasthenic syndromes with glycosylation defect CMS14 CMSTA3 congenital myasthenic syndrome 14 congenital myasthenic syndrome 14, with tubular aggregates congenital myasthenic syndrome type 14 congenital myasthenic syndrome with tubular aggregates 3 congenital myasthenic syndromes with glycosylation defect caused by mutation in ALG2 myasthenic syndrome, congenital, 14, with tubular aggregates myasthenic syndrome, congenital, type 14 myasthenic syndrome, congenital, 14 myasthenic syndrome, congenital, with tubular aggregates 3 congenital myasthenic syndrome 14 MONDO:0014544 An osteogenesis imperfecta that has material basis in contiguous gene deletion on chromosome 11p11. https://github.com/monarch-initiative/mondo/issues/4948 OI16 chromosome 11p11.2 deletion syndrome 91.3-KB osteogenesis imperfecta type XVI OI, type 16 chromosome 11P11.2 deletion syndrome, 91.3-Kb osteogenesis imperfecta, type 16 osteogenesis imperfecta, type XVI osteogenesis imperfecta type 16 MONDO:0014545 Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the CERS1 gene. CERS1 progressive myoclonic epilepsy EPM8 PME type 8 epilepsy, progressive myoclonic, type 8 progressive myoclonic epilepsy caused by mutation in CERS1 progressive myoclonic epilepsy due to CERS1 deficiency progressive myoclonus epilepsy type 8 epilepsy, progressive myoclonic, 8 progressive myoclonic epilepsy type 8 MONDO:0014546 Myopathy due to calsequestrin and SERCA1 protein overload is characterised by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms. VMCQA myopathy, vacuolar, with CASQ1 aggregates myopathy due to calsequestrin and SERCA1 protein overload MONDO:0014547 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the NARS2 gene. COXPD24 NARS2 combined oxidative phosphorylation deficiency combined oxidative phosphorylation deficiency caused by mutation in NARS2 combined oxidative phosphorylation deficiency type 24 combined oxidative phosphorylation deficiency 24 combined oxidative phosphorylation defect type 24 MONDO:0014548 Any long QT syndrome in which the cause of the disease is a mutation in the CALM1 gene. CALM1 long QT syndrome LQT14 long QT syndrome 14 long QT syndrome caused by mutation in CALM1 long QT syndrome type 14 long QT syndrome 14 MONDO:0014549 Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ZBTB42 gene. ZBTB42 lethal congenital contracture syndrome lethal congenital contracture syndrome 6 lethal congenital contracture syndrome caused by mutation in ZBTB42 lethal congenital contracture syndrome type 6 LCCS6 lethal congenital contracture syndrome 6 MONDO:0014550 Any long QT syndrome in which the cause of the disease is a mutation in the CALM2 gene. CALM2 long QT syndrome LQT15 long QT syndrome 15 long QT syndrome caused by mutation in CALM2 long QT syndrome type 15 long QT syndrome 15 MONDO:0014551 short stature with nonspecific skeletal abnormalities SNSK short stature with nonspecific skeletal abnormalities MONDO:0014552 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise. Meckel syndrome type 12 MKS12 Meckel syndrome 12 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome MONDO:0014553 Tenorio syndrome TENORIO syndrome TNORS overgrowth, macrocephaly, and intellectual disability syndrome Tenorio syndrome MONDO:0014555 Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS, a type of ichthyosis, characterized by generalized white scaling and superficial painless peeling of the skin. PSS type A generalized deciduous skin type A generalized peeling skin syndrome type A non-inflammatory generalized peeling skin syndrome type A. non-inflammatory peeling skin syndrome type A peeling skin syndrome type 3 PSS3 peeling skin syndrome 3 peeling skin syndrome type A MONDO:0014556 A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by severe congenital contractures of the limbs and face, hypotonia, neonatal respiratory distress, and global developmental delay. Dysmorphic facial features include downslanting palpebral fissures, broad nasal bridge, large nares, long philtrum, and deep nasolabial folds, among others. Limb deformities (camptodactyly, clubfoot), short neck, scoliosis, as well as seizures have also been reported. Brain MRI may show cerebral and cerebellar atrophy in some cases. https://github.com/monarch-initiative/mondo/issues/4069 CLIFAHDD syndrome congenital contractures of the limbs and face, hypotonia, and developmental delay congenital limbs-face contractures-hypotonia-developmental delay syndrome CLIFAHDD congenital contractures of the limbs and face, hypotonia, and developmental delay MONDO:0014557 Any oculomotor apraxia or related oculomotor disease in which the cause of the disease is a mutation in the PNKP gene. AOA4 PNKP oculomotor apraxia or related oculomotor disease ataxia - oculomotor apraxia type 4 oculomotor apraxia or related oculomotor disease caused by mutation in PNKP ataxia-oculomotor apraxia 4 ataxia-oculomotor apraxia-4 ataxia - oculomotor apraxia type 4 https://rarediseases.info.nih.gov/diseases/13111/ataxia-oculomotor-apraxia-type-4 MONDO:0014558 A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) with delayed or limited/absent speech development associated with neonatal hypotonia, feeding difficulties, cardiac anomalies and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Microcephaly, frequent infections, gastrointestinal and/or ocular anomalies have also been described. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 Arboleda-Tham syndrome KAT6A Syndrome MRD32 autosomal dominant intellectual disability 32 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome autosomal dominant mental retardation 32 intellectual disability, autosomal dominant type 32 mental retardation, autosomal dominant type 32 autosomal dominant non-syndromic intellectual disability 32 intellectual disability, autosomal dominant 32 mental retardation, autosomal dominant 32 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome MONDO:0014559 https://github.com/monarch-initiative/mondo/issues/4985 https://github.com/monarch-initiative/mondo/issues/5588 intellectual disability, autosomal recessive type 48 mental retardation, autosomal recessive type 48 MRT48 intellectual disability, autosomal recessive 48 mental retardation, autosomal recessive 48 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome MONDO:0014560 Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMBN gene. AI1F AMBN amelogenesis imperfecta amelogenesis imperfecta caused by mutation in AMBN amelogenesis imperfecta hypoplastic type IF amelogenesis imperfecta type IF amelogenesis imperfecta, hypoplastic type 1F amelogenesis imperfecta, type 1F amelogenesis imperfecta, type IF amelogenesis imperfecta type 1F MONDO:0014561 Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the CLPB gene. https://github.com/monarch-initiative/mondo/issues/4521 3-methylglutaconic aciduria caused by mutation in CLPB 3-methylglutaconic aciduria type 7 3-methylglutaconic aciduria type VII 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia 3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome CLPB 3-methylglutaconic aciduria MEGCANN MGA7 MGCA7 3-METHYLGLUTACONIC aciduria with cataracts, neurologic involvement, and neutropenia 3-Methylglutaconic aciduria, type 7 Present because it is in the OMIM series. 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia MONDO:0014562 COQ4-related neonatal encephalomyopathy coenzyme Q10 deficiency, primary, type 7 COQ10D7 coenzyme Q10 deficiency, primary, 7 primary coenzyme Q10 deficiency 7 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency ECHS1D mitochondrial short-chain ENOYL-CoA hydratase 1 deficiency short-chain enoyl-CoA hydratase deficiency mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency MONDO:0014564 Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ABCD3 gene. ABCD3 congenital bile acid synthesis defect CBAS5 bile acid synthesis defect, congenital, type 5 congenital bile acid synthesis defect 5 congenital bile acid synthesis defect caused by mutation in ABCD3 congenital bile acid synthesis defect type 5 bile acid synthesis defect, congenital, 5 congenital bile acid synthesis defect 5 MONDO:0014565 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the UNC45B gene. CTRCT43 UNC45B early-onset non-syndromic cataract cataract 43 cataract type 43 early-onset non-syndromic cataract caused by mutation in UNC45B cataract 43 MONDO:0014566 Autosomal dominant Charcot-Marie-Tooth disease type 2U (CMT2U) is a subtype of autosonal dominant Charcot-Marie-Tooth disease type 2 characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated. CMT2U Charcot-Marie-Tooth disease type 2 caused by mutation in MARS Charcot-Marie-Tooth neuropathy type 2U MARS Charcot-Marie-Tooth disease type 2 autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation autosomal dominant Charcot-Marie-Tooth disease type 2U autosomal dominant axonal Charcot-Marie-Tooth disease type 2U Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2U Charcot-Marie-Tooth disease, axonal, type 2U Charcot-Marie-Tooth neuropathy, type 2U Charcot-Marie-Tooth disease axonal type 2U MONDO:0014567 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 GPT2 deficiency MRT49 glutamate pyruvate transaminase 2 deficiency mental retardation, autosomal recessive 49 mental retardation, autosomal recessive type 49 neurodevelopmental disorder with microcephaly and spastic paraplegia postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome glutamate pyruvate transaminase 2 deficiency MONDO:0014568 Autosomal dominant spastic paraplegia type 73 (SPG73) is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies. CPT1C autosomal dominant pure spastic paraplegia SPG73 autosomal dominant pure spastic paraplegia caused by mutation in CPT1C autosomal dominant spastic paraplegia 73 autosomal dominant spastic paraplegia type 73 hereditary spastic paraplegia type 73 spastic paraplegia 73, autosomal dominant hereditary spastic paraplegia 73 MONDO:0014569 Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the CNTNAP1 gene. https://github.com/monarch-initiative/mondo/issues/4069 CNTNAP1 lethal congenital contracture syndrome lethal congenital contracture syndrome 7 lethal congenital contracture syndrome caused by mutation in CNTNAP1 lethal congenital contracture syndrome type 7 LCCS7 lethal congenital contracture syndrome 7 MONDO:0014570 Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADCY6 gene. https://github.com/monarch-initiative/mondo/issues/4069 ADCY6 lethal congenital contracture syndrome lethal congenital contracture syndrome 8 lethal congenital contracture syndrome caused by mutation in ADCY6 lethal congenital contracture syndrome type 8 LCCS8 lethal congenital contracture syndrome 8 MONDO:0014571 ACO2 autosomal recessive isolated optic atrophy autosomal recessive isolated optic atrophy caused by mutation in ACO2 optic atrophy 9 OPA9 optic atrophy 9 MONDO:0014572 Lichtenstein-Knorr syndrome SCAR19 autosomal recessive spinocerebellar ataxia type 19 progressive autosomal recessive ataxia-sensorineural hearing loss syndrome LIKNS autosomal recessive spinocerebellar ataxia 19 progressive autosomal recessive ataxia-deafness syndrome spinocerebellar ataxia, autosomal recessive 19 Lichtenstein-Knorr syndrome MONDO:0014573 Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the SEC24D gene. https://github.com/monarch-initiative/mondo/issues/4948 Cole-Carpenter syndrome 2 Cole-Carpenter syndrome caused by mutation in SEC24D Cole-Carpenter syndrome type 2 SEC24D Cole-Carpenter syndrome CLCRP2 COLE-CARPENTER syndrome 2 Cole-Carpenter syndrome 2 MONDO:0014574 plack syndrome peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome plack peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome MONDO:0014575 Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the DDX58 gene. https://github.com/monarch-initiative/mondo/issues/4948 DDX58 singleton-Merten dysplasia singleton-Merten dysplasia caused by mutation in DDX58 singleton-Merten syndrome 2 singleton-Merten syndrome type 2 SGMRT2 Singleton-Merten syndrome 2 MONDO:0014576 LIPT1D lipoyltransferase 1 deficiency lipoyl transferase 1 deficiency MONDO:0014577 An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23. SRTD13 short-rib thoracic dysplasia 13 with or without polydactyly short-rib thoracic dysplasia 13 with or without polydactyly MONDO:0014578 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the LRP4 gene. CMS17 LRP4 congenital myasthenic syndrome congenital myasthenic syndrome caused by mutation in LRP4 congenital myasthenic syndrome type 17 myasthenic syndrome, congenital, type 17 myasthenic syndrome, congenital, 17 congenital myasthenic syndrome 17 MONDO:0014579 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the WDR19 gene. Senior-Loken syndrome 8 Senior-Loken syndrome caused by mutation in WDR19 Senior-Loken syndrome type 8 WDR19 Senior-Loken syndrome SENIOR-Loken syndrome 8 SLSN8 Senior-Loken syndrome 8 MONDO:0014580 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DPP6 gene. DPP6 autosomal dominant non-syndromic intellectual disability MRD33 autosomal dominant intellectual disability 33 autosomal dominant mental retardation 33 autosomal dominant non-syndromic intellectual disability caused by mutation in DPP6 intellectual disability, autosomal dominant 33 intellectual disability, autosomal dominant type 33 mental retardation, autosomal dominant type 33 autosomal dominant non-syndromic intellectual disability 33 mental retardation, autosomal dominant 33 intellectual disability, autosomal dominant 33 MONDO:0014581 A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous mutation in the CHRNB1 gene on chromosome 17p13. https://github.com/monarch-initiative/mondo/issues/4069 CMS2A congenital myasthenic syndrome 2A slow-channel congenital myasthenic syndrome type 2A CMS IIa SCCMS myasthenic syndrome, congenital, 2A, slow-channel myasthenic syndrome, congenital, postsynaptic slow-channel myasthenic syndrome, congenital, slow-channel myasthenic syndrome, congenital, type IIa slow channel congenital myasthenic syndrome congenital myasthenic syndrome 2A MONDO:0014582 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in ompound heterozygous mutation in the CHRNB1 gene on chromosome 17p13. https://github.com/monarch-initiative/mondo/issues/4069 CMS2C congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency congenital myasthenic syndrome type 2C myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency congenital myasthenic syndrome 2C MONDO:0014583 A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has material basis in heterozygous mutation in the CHRND gene on chromosome 2q37. https://github.com/monarch-initiative/mondo/issues/4069 CMS3A congenital myasthenic syndrome 3A, slow-channel congenital myasthenic syndrome type 3A myasthenic syndrome, congenital, 3A, slow-channel congenital myasthenic syndrome 3A MONDO:0014584 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has material basis in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37. https://github.com/monarch-initiative/mondo/issues/4069 CMS3B congenital myasthenic syndrome 3B, fast-channel congenital myasthenic syndrome type 3B myasthenic syndrome, congenital, 3B, FAST-channel congenital myasthenic syndrome 3B MONDO:0014585 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has material basis in compound heterozygous mutation in the CHRND gene on chromosome 2q37. https://github.com/monarch-initiative/mondo/issues/4069 congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency congenital myasthenic syndrome type 3C CMS3C myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency congenital myasthenic syndrome 3C MONDO:0014586 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. https://github.com/monarch-initiative/mondo/issues/4069 CMS4B congenital myasthenic syndrome 4B fast-channel congenital myasthenic syndrome type 4B myasthenic syndrome, congenital, 4B, FAST-channel congenital myasthenic syndrome 4B MONDO:0014587 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the MUSK gene. https://github.com/monarch-initiative/mondo/issues/4069 CMS9 MUSK congenital myasthenic syndrome congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency congenital myasthenic syndrome caused by mutation in MUSK congenital myasthenic syndrome type 9 myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency congenital myasthenic syndrome 9 MONDO:0014588 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the RAPSN gene. https://github.com/monarch-initiative/mondo/issues/4069 CMS Ie CMS11 CMS1E RAPSN congenital myasthenic syndrome congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency congenital myasthenic syndrome 1e congenital myasthenic syndrome caused by mutation in RAPSN congenital myasthenic syndrome type 11 Cms Ie Cms Ie, formerly myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency myasthenic syndrome, congenital, Ie myasthenic syndrome, congenital, Ie, formerly congenital myasthenic syndrome 11 MONDO:0014589 Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KCNJ11 gene. KCNJ11 maturity-onset diabetes of the young (disease) MODY type 13 MODY13 maturity-onset diabetes of the young (disease) caused by mutation in KCNJ11 MODY, type 13 maturity-onset diabetes of the young, type 13 maturity-onset diabetes of the young type 13 MONDO:0014590 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SNAP25 gene. https://github.com/monarch-initiative/mondo/issues/4069 CMS18 SNAP25 congenital myasthenic syndrome congenital myasthenic syndrome caused by mutation in SNAP25 congenital myasthenic syndrome type 18 myasthenic syndrome, congenital, type 18 myasthenic syndrome, congenital, 18 myasthenic syndrome, congenital, 18, with intellectual disability and ataxia congenital myasthenic syndrome 18 MONDO:0014591 Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the DVL1 gene. https://github.com/monarch-initiative/mondo/issues/4948 DRS2 DVL1 autosomal dominant Robinow syndrome Robinow syndrome, autosomal dominant type 2 autosomal dominant Robinow syndrome caused by mutation in DVL1 autosomal dominant Robinow syndrome type 2 Robinow syndrome, autosomal dominant 2 autosomal dominant Robinow syndrome 2 MONDO:0014592 Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the TUBGCP4 gene. TUBGCP4 microcephaly and chorioretinopathy microcephaly and chorioretinopathy caused by mutation in TUBGCP4 microcephaly and chorioretinopathy type 3 microcephaly and chorioretinopathy, autosomal recessive, type 3 MCCRP3 microcephaly and chorioretinopathy, autosomal recessive, 3 microcephaly and chorioretinopathy 3 MONDO:0014593 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AARS gene. https://github.com/monarch-initiative/mondo/issues/4521 AARS early infantile epileptic encephalopathy DEE29 EIEE29 developmental and epileptic encephalopathy 29 early infantile epileptic encephalopathy caused by mutation in AARS epileptic encephalopathy, early infantile, 29 epileptic encephalopathy, early infantile, type 29 developmental and epileptic encephalopathy, 29 MONDO:0014594 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the OSBPL2 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA67 OSBPL2 autosomal dominant nonsyndromic deafness autosomal dominant deafness 67 autosomal dominant nonsyndromic deafness 67 autosomal dominant nonsyndromic deafness caused by mutation in OSBPL2 autosomal dominant nonsyndromic deafness type 67 deafness, autosomal dominant 67 deafness, autosomal dominant type 67 autosomal dominant nonsyndromic hearing loss 67 MONDO:0014595 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SIK1 gene. https://github.com/monarch-initiative/mondo/issues/4521 DEE30 EIEE30 SIK1 early infantile epileptic encephalopathy developmental and epileptic encephalopathy 30 early infantile epileptic encephalopathy caused by mutation in SIK1 epileptic encephalopathy, early infantile, 30 epileptic encephalopathy, early infantile, type 30 developmental and epileptic encephalopathy, 30 MONDO:0014596 lissencephaly 7 with cerebellar hypoplasia LIS7 lissencephaly 7 with cerebellar hypoplasia MONDO:0014597 Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IRF7 gene. IRF7 primary immunodeficiency disease immunodeficiency 39 immunodeficiency type 39 primary immunodeficiency disease caused by mutation in IRF7 IMD39 immunodeficiency 39 MONDO:0014598 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DNM1 gene. https://github.com/monarch-initiative/mondo/issues/4521 DEE31 DNM1 early infantile epileptic encephalopathy EIEE31 developmental and epileptic encephalopathy 31 early infantile epileptic encephalopathy caused by mutation in DNM1 epileptic encephalopathy, early infantile, 31 epileptic encephalopathy, early infantile, type 31 developmental and epileptic encephalopathy, 31 MONDO:0014599 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the COL4A3BP gene. https://github.com/monarch-initiative/mondo/issues/4521 COL4A3BP autosomal dominant non-syndromic intellectual disability MRD34 autosomal dominant intellectual disability 34 autosomal dominant mental retardation 34 autosomal dominant non-syndromic intellectual disability caused by mutation in COL4A3BP intellectual developmental disorder, autosomal dominant 34 intellectual disability, autosomal dominant 34 intellectual disability, autosomal dominant type 34 mental retardation, autosomal dominant type 34 autosomal dominant non-syndromic intellectual disability 34 mental retardation, autosomal dominant 34 intellectual disability, autosomal dominant 34 MONDO:0014600 Any dyskeratosis congenita in which the cause of the disease is a mutation in the PARN gene. DKCB6 PARN dyskeratosis congenita dyskeratosis congenita caused by mutation in PARN dyskeratosis congenita, autosomal recessive 6 dyskeratosis congenita, autosomal recessive type 6 autosomal recessive dyskeratosis congenita 6 dyskeratosis congenita, autosomal recessive 6 MONDO:0014601 Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the SNX14 gene. https://github.com/monarch-initiative/mondo/issues/5588 SCAR20 SNX14 autosomal recessive cerebellar ataxia autosomal recessive cerebellar ataxia caused by mutation in SNX14 autosomal recessive spinocerebellar ataxia type 20 intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome spinocerebellar ataxia, autosomal recessive type 20 intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome spinocerebellar ataxia, autosomal recessive 20 autosomal recessive spinocerebellar ataxia 20 MONDO:0014602 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of PPP2R5D on chromosome 6p21.1. https://github.com/monarch-initiative/mondo/issues/5588 MRD35 autosomal dominant intellectual disability 35 autosomal dominant mental retardation 35 intellectual disability, autosomal dominant type 35 mental retardation, autosomal dominant type 35 autosomal dominant non-syndromic intellectual disability 35 intellectual disability, autosomal dominant 35 mental retardation, autosomal dominant 35 intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome MONDO:0014603 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CRYM gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 CRYM autosomal dominant nonsyndromic deafness DFNA40 autosomal dominant deafness 40 autosomal dominant nonsyndromic deafness 40 autosomal dominant nonsyndromic deafness caused by mutation in CRYM autosomal dominant nonsyndromic deafness type 40 deafness, autosomal dominant 40 deafness, autosomal dominant type 40 autosomal dominant nonsyndromic hearing loss 40 MONDO:0014604 Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the DNAJC13 gene. DNAJC13 hereditary late onset Parkinson disease Parkinson disease 21 Parkinson disease type 21 hereditary late onset Parkinson disease caused by mutation in DNAJC13 PARK21 Parkinson disease 21 MONDO:0014605 MRD36 autosomal dominant intellectual disability 36 autosomal dominant mental retardation 36 intellectual disability, autosomal dominant type 36 mental retardation, autosomal dominant type 36 autosomal dominant non-syndromic intellectual disability 36 intellectual disability, autosomal dominant 36 mental retardation, autosomal dominant 36 microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome MONDO:0014606 Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellecutal disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation). https://github.com/monarch-initiative/mondo/issues/5588 MRD37 WHSUS autosomal dominant intellectual disability 37 autosomal dominant mental retardation 37 intellectual disability, autosomal dominant type 37 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome mental retardation, autosomal dominant type 37 WHITE-Sutton syndrome White-Sutton syndrome intellectual disability, autosomal dominant 37 mental retardation, autosomal dominant 37 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome MONDO:0014607 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNA2 gene. https://github.com/monarch-initiative/mondo/issues/4521 DEE32 EIEE32 KCNA2 early infantile epileptic encephalopathy developmental and epileptic encephalopathy 32 early infantile epileptic encephalopathy caused by mutation in KCNA2 epileptic encephalopathy, early infantile, 32 epileptic encephalopathy, early infantile, type 32 developmental and epileptic encephalopathy, 32 MONDO:0014608 A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia. https://github.com/monarch-initiative/mondo/issues/4948 MFDA mandibulofacial dysostosis with alopecia mandibulofacial dysostosis with alopecia MONDO:0014609 https://github.com/monarch-initiative/mondo/issues/5588 CHOPS syndrome CHOPS cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome MONDO:0014611 Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the ISCA2 gene. ISCA2 fatal multiple mitochondrial dysfunctions syndrome fatal multiple mitochondrial dysfunctions syndrome caused by mutation in ISCA2 multiple mitochondrial dysfunctions syndrome 4 multiple mitochondrial dysfunctions syndrome type 4 MMDS4 multiple mitochondrial dysfunctions syndrome 4 MONDO:0014612 Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the PARN gene. PARN pulmonary fibrosis and/or bone marrow failure, Telomere-related pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in PARN pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 4 PFBMFT4 pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 4 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 MONDO:0014613 Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the RTEL1 gene. RTEL1 pulmonary fibrosis and/or bone marrow failure, Telomere-related pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in RTEL1 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 3 PFBMFT3 pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 3 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 MONDO:0014614 A congenital stationary night blindness characterized by autosomal recessive inheritance that has material basis in homozygous mutation in the GNAT1 gene on chromosome 3p21. https://github.com/monarch-initiative/mondo/issues/4069 CSNB1G congenital stationary night blindness type 1G night blindness, congenital stationary, type 1G congenital stationary night blindness 1G MONDO:0014615 trichothiodystrophy 2, photosensitive TTD2 trichothiodystrophy 2, photosensitive MONDO:0014617 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EEF1A2 gene. EEF1A2 autosomal dominant non-syndromic intellectual disability MRD38 PRELDS autosomal dominant intellectual disability 38 autosomal dominant mental retardation 38 autosomal dominant non-syndromic intellectual disability caused by mutation in EEF1A2 intellectual disability, autosomal dominant 38 intellectual disability, autosomal dominant type 38 mental retardation, autosomal dominant type 38 psychomotor retardation, epilepsy, and language disability syndrome autosomal dominant non-syndromic intellectual disability 38 mental retardation, autosomal dominant 38 intellectual disability, autosomal dominant 38 MONDO:0014618 Any retinitis pigmentosa in which the cause of the disease is a mutation in the IFT172 gene. IFT172 retinitis pigmentosa RP71 retinitis pigmentosa 71 retinitis pigmentosa caused by mutation in IFT172 retinitis pigmentosa type 71 retinitis pigmentosa 71 MONDO:0014619 trichothiodystrophy 3, photosensitive TTD3 trichothiodystrophy, complementation group A trichothiodystrophy 3, photosensitive MONDO:0014620 Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the KCTD17 gene. KCTD17 myoclonus-dystonia syndrome myoclonic dystonia type 26 myoclonus-dystonia syndrome caused by mutation in KCTD17 DYT26 dystonia 26, myoclonic myoclonic dystonia 26 MONDO:0014621 Any Brugada syndrome in which the cause of the disease is a mutation in the KCND3 gene. BRGDA9 Brugada syndrome 9 Brugada syndrome caused by mutation in KCND3 Brugada syndrome type 9 KCND3 Brugada syndrome Brugada syndrome 9 MONDO:0014622 palmoplantar keratoderma, nonepidermolytic, focal type 2 FNEPPK2 palmoplantar keratoderma, nonepidermolytic, focal 2 isolated focal non-epidermolytic palmoplantar keratoderma MONDO:0014623 Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the SASS6 gene. SASS6 autosomal recessive primary microcephaly autosomal recessive primary microcephaly caused by mutation in SASS6 microcephaly 14, primary, autosomal recessive MCPH14 microcephaly 14, primary, autosomal recessive MONDO:0014624 Brown syndrome is a rare eye disorder characterized by defects in eye movements caused by abnormalities of the superior oblique tendon sheath of the superior oblique muscle. BRWNS Brown syndrome Brown tendon sheath syndrome Brown's (tendon) sheath syndrome Brown's sheath syndrome Brown's tendon sheath syndrome superior oblique tendon sheath syndrome tendon sheath adherence, Superior oblique Brown syndrome MONDO:0014625 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the EEF1A2 gene. https://github.com/monarch-initiative/mondo/issues/4521 DEE33 EEF1A2 early infantile epileptic encephalopathy EIEE33 developmental and epileptic encephalopathy 33 early infantile epileptic encephalopathy caused by mutation in EEF1A2 epileptic encephalopathy, early infantile, 33 epileptic encephalopathy, early infantile, type 33 developmental and epileptic encephalopathy, 33 MONDO:0014626 Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging. SCA41 spinocerebellar ataxia type 41 spinocerebellar ataxia 41 spinocerebellar ataxia type 41 MONDO:0014627 Any dystonic disorder in which the cause of the disease is a mutation in the COL6A3 gene. COL6A3 dystonic disorder dystonia 27 dystonia type 27 dystonic disorder caused by mutation in COL6A3 DYT27 primary dystonia, DYT27 type dystonia 27 MONDO:0014628 Any bilateral striopallidodentate calcinosis in which the cause of the disease is a mutation in the XPR1 gene. XPR1 bilateral striopallidodentate calcinosis basal ganglia calcification, idiopathic, 6 basal ganglia calcification, idiopathic, type 6 bilateral striopallidodentate calcinosis caused by mutation in XPR1 IBGC6 basal ganglia calcification, idiopathic, 6 MONDO:0014629 A respiratory disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease. copa defect copa syndrome AILJK autoimmune interstitial lung, joint, and kidney disease Editor note: check relationship to RA-ILD autoimmune interstitial lung disease-arthritis syndrome MONDO:0014630 https://github.com/monarch-initiative/mondo/issues/5374 FAP3 NTHL1-related AFAP NTHL1-related attenuated FAP NTHL1-related attenuated familial adenomatous polyposis familial adenomatous polyposis 3 familial adenomatous polyposis type 3 familial adenomatous polyposis 3 MONDO:0014631 hypomagnesemia, seizures, and intellectual disability hypomagnesemia, seizures, and mental retardation HOMGSMR hypomagnesemia, seizures, and intellectual disability MONDO:0014632 Any leukodystrophy in which the cause of the disease is a mutation in the PYCR2 gene. HLD10 PYCR2 leukodystrophy hypomyelinating leukodystrophy type 10 leukodystrophy caused by mutation in PYCR2 leukodystrophy, hypomyelinating, type 10 leukodystrophy, hypomyelinating, 10 hypomyelinating leukodystrophy 10 MONDO:0014633 myoclonic-atonic epilepsy mae myoclonic-atonic epilepsy MONDO:0014634 https://github.com/monarch-initiative/mondo/issues/4521 46,XY Sex reversal type 10 46,XY sex reversal 10 46XY sex reversal 10 46,XY SEX reversal 10 SRXY10 chromosome 17Q24 deletion syndrome 46,XY sex reversal 10 MONDO:0014635 Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the RBP4 gene. RBP4 microphthalmia, isolated, with coloboma microphthalmia, isolated, with coloboma 10 microphthalmia, isolated, with coloboma caused by mutation in RBP4 microphthalmia, isolated, with coloboma type 10 MCOPCB10 microphthalmia, isolated, with coloboma 10 MONDO:0014636 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the MARS2 gene. COXPD25 MARS2 combined oxidative phosphorylation deficiency combined oxidative phosphorylation deficiency caused by mutation in MARS2 combined oxidative phosphorylation deficiency type 25 combined oxidative phosphorylation deficiency 25 combined oxidative phosphorylation defect type 25 MONDO:0014637 immunodeficiency type 40 IMD40 immunodeficiency 40 DOCK2 deficiency https://rarediseases.info.nih.gov/diseases/12653/dock2-deficiency MONDO:0014638 Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene. FANCT Fanconi Anemia, complementation group type T Fanconi anemia caused by mutation in UBE2T Fanconi anemia complementation group type T UBE2T Fanconi anemia Fanconi anemia, complementation group T Fanconi anemia complementation group T MONDO:0014639 A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has material basis in heterozygous mutation in the RELN gene on chromosome 7q22. ETL7 epilepsy, familial temporal lobe, type 7 familial temporal lobe epilepsy type 7 epilepsy, familial temporal lobe, 7 familial temporal lobe epilepsy 7 MONDO:0014640 An amyotrophic lateral sclerosis that has material basis in mutation in the SQSTM1 gene on chromosome 5q35. FTDALS3 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 frontotemporal dementia and/or amyotrophic lateral sclerosis type 3 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 MONDO:0014641 An amyotrophic lateral sclerosis that has material basis in mutation in the TBK1 gene on chromosome 12q14. FTDALS4 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 frontotemporal dementia and/or amyotrophic lateral sclerosis type 4 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 MONDO:0014642 Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17RC gene. IL17RC chronic mucocutaneous candidiasis (disease) candidiasis, familial, 9 candidiasis, familial, type 9 chronic mucocutaneous candidiasis (disease) caused by mutation in IL17RC CANDF9 candidiasis, familial, 9 MONDO:0014643 https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 Basel-Vanagait-Smirin-Yosef syndrome BASEL-Vanagaite-SMIRIN-YOSEF syndrome BVSYS congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome MONDO:0014644 Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported. IBA57 hereditary spastic paraplegia SPG74 autosomal recessive spastic paraplegia 74 hereditary spastic paraplegia caused by mutation in IBA57 hereditary spastic paraplegia type 74 autosomal recessive spastic paraplegia type 74 spastic paraplegia 74, autosomal recessive hereditary spastic paraplegia 74 MONDO:0014645 BENTA disease (B cell Expansion with N F-N:B and T cell Anergy) is a very rare congenital immune deficiency disorder. The main symptoms include spleen enlargement (splenomegalia) and frequent ear, sinus, and lung infections early in life. Some patients can present with molluscum contagiosum or chronic Epstein-Barr virus (EBV) infection. Blood exams show alterations of several immune cells with very high numbers of polyclonal B cell lymphocytos (above 2200/N<l) and few memory B cells. Other findings are low levels of IgM in blood and poor antibody responses to specific vaccines. BENTA disease is caused by mutations in the CARD11 gene. There is no established treatment, but some patients have their spleen removed and there is one case of a hematopoietic stem cell transplantation with good results. B-cell expansion with NF-kB and T-cell anergy disease B-cell expansion with NFKB and T-cell anergy BENTA BENTA disease MONDO:0014646 Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the ATP6V1B2 gene. ATP6V1B2 Zimmermann-Laband syndrome Zimmermann-Laband syndrome 2 Zimmermann-Laband syndrome caused by mutation in ATP6V1B2 Zimmermann-Laband syndrome type 2 ZLS2 Zimmermann-Laband syndrome 2 MONDO:0014647 https://github.com/monarch-initiative/mondo/issues/4521 CAD-CDG CDG syndrome type Iz CDG-Iz CDG1Z DEE50 EIEE50 carbohydrate deficient glycoprotein syndrome type Iz congenital disorder of glycosylation type 1z developmental and epileptic encephalopathy 50 epileptic encephalopathy, early infantile, 50 congenital disorder of glycosylation, type Iz congenital disorder of glycosylation, type Iz, formerly developmental and epileptic encephalopathy, 50 MONDO:0014648 Al-Raqad syndrome AL-RAQAD syndrome ARS Al-Raqad syndrome MONDO:0014649 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the EDC3 gene. https://github.com/monarch-initiative/mondo/issues/4521 EDC3 autosomal recessive non-syndromic intellectual disability autosomal recessive non-syndromic intellectual disability caused by mutation in EDC3 intellectual developmental disorder, autosomal recessive 50 intellectual disability, autosomal recessive 50 intellectual disability, autosomal recessive type 50 mental retardation, autosomal recessive type 50 MRT50 mental retardation, autosomal recessive 50 intellectual disability, autosomal recessive 50 MONDO:0014650 A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has material basis in heterozygous mutation in the GAL gene on chromosome 11q13. ETL8 epilepsy, familial temporal lobe, type 8 familial temporal lobe epilepsy type 8 epilepsy, familial temporal lobe, 8 familial temporal lobe epilepsy 8 MONDO:0014651 Any acrofacial dysostosis in which the cause of the disease is a mutation in the POLR1A gene. https://github.com/monarch-initiative/mondo/issues/4948 POLR1A acrofacial dysostosis acrofacial dysostosis caused by mutation in POLR1A AFDCIN acrofacial dysostosis, Cincinnati type acrofacial dysostosis Cincinnati type MONDO:0014652 Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the ZNF408 gene. ZNF408 exudative vitreoretinopathy exudative vitreoretinopathy 6 exudative vitreoretinopathy caused by mutation in ZNF408 exudative vitreoretinopathy type 6 EVR6 exudative vitreoretinopathy 6 MONDO:0014653 Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF408 gene. RP72 ZNF408 retinitis pigmentosa retinitis pigmentosa 72 retinitis pigmentosa caused by mutation in ZNF408 retinitis pigmentosa type 72 retinitis pigmentosa 72 MONDO:0014654 Any Ullrich congenital muscular dystrophy in which the cause of the disease is a mutation in the COL12A1 gene. https://github.com/monarch-initiative/mondo/issues/4069 COL12A1 Ullrich congenital muscular dystrophy Ullrich congenital muscular dystrophy 2 Ullrich congenital muscular dystrophy caused by mutation in COL12A1 Ullrich congenital muscular dystrophy type 2 UCMD2 Ullrich congenital muscular dystrophy 2 MONDO:0014656 Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RNASEH1 gene. RNASEH1 progressive external ophthalmoplegia with mitochondrial DNA deletions progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in RNASEH1 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 2 PEOB2 progressive external ophthalmoplegia, autosomal recessive 2 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 MONDO:0014657 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH3 gene. CILD32 RSPH3 primary ciliary dyskinesia ciliary dyskinesia, primary, type 32 primary ciliary dyskinesia 32 without situs inversus primary ciliary dyskinesia caused by mutation in RSPH3 primary ciliary dyskinesia type 32 ciliary dyskinesia, primary, 32 ciliary dyskinesia, primary, 32, without situs inversus primary ciliary dyskinesia 32 MONDO:0014658 A syndrome characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3). https://github.com/monarch-initiative/mondo/issues/4948 SADDAN SADDAN dysplasia severe achondroplasia with developmental delay and acanthosis nigricans achondroplasia, severe, with developmental delay and acanthosis nigricans severe achondroplasia-developmental delay-acanthosis nigricans syndrome MONDO:0014659 Any infantile liver failure in which the cause of the disease is a mutation in the NBAS gene. ILFS2 NBAS infantile liver failure infantile liver failure caused by mutation in NBAS infantile liver failure syndrome 2 infantile liver failure syndrome type 2 infantile liver failure syndrome 2 MONDO:0014660 https://github.com/monarch-initiative/mondo/issues/4521 microcephaly 15, primary, autosomal recessive neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities MCPH15 microcephaly 15, primary, autosomal recessive MONDO:0014661 https://github.com/monarch-initiative/mondo/issues/4521 epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive epidermolysis bullosa simplex with nail dystrophy EBSND epidermolysis bullosa simplex with nail dystrophy MONDO:0014662 A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has material basis in homozygous mutation in the PRDM12 gene on chromosome 9q34. https://github.com/monarch-initiative/mondo/issues/4069 CIP-hypohidrosis syndrome HSAN8 hereditary sensory and autonomic neuropathy type 8 hereditary sensory and autonomic neuropathy type VIII HSAN 8 neuropathy, hereditary sensory and autonomic, type 8 neuropathy, hereditary sensory and autonomic, type VIII congenital insensitivity to pain-hypohidrosis syndrome MONDO:0014663 SRS3 growth restriction, severe, with distinctive facies GRDF Silver-Russell syndrome 3 MONDO:0014664 Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0586 gene. JBTS23 Joubert syndrome 23 Joubert syndrome caused by mutation in KIAA0586 Joubert syndrome type 23 KIAA0586 Joubert syndrome Joubert syndrome 23 MONDO:0014665 Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene. CMT2V Charcot-Marie-Tooth disease caused by mutation in NAGLU Charcot-Marie-Tooth neuropathy type 2V NAGLU Charcot-Marie-Tooth disease autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation autosomal dominant Charcot-Marie-Tooth disease type 2V autosomal dominant axonal Charcot-Marie-Tooth disease type 2V hereditary adult-onset painful axonal polyneuropathy Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V Charcot-Marie-Tooth disease, axonal, type 2V Charcot-Marie-Tooth neuropathy, type 2V Charcot-Marie-Tooth disease axonal type 2V MONDO:0014666 Any leukodystrophy in which the cause of the disease is a mutation in the POLR1C gene. HLD11 POLR1C leukodystrophy hypomyelinating leukodystrophy type 11 leukodystrophy caused by mutation in POLR1C leukodystrophy, hypomyelinating, type 11 leukodystrophy, hypomyelinating, 11 hypomyelinating leukodystrophy 11 MONDO:0014667 Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA5 gene. https://github.com/monarch-initiative/mondo/issues/4521 COA5 fatal infantile encephalocardiomyopathy cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 3 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 fatal infantile encephalocardiomyopathy caused by mutation in COA5 mitochondrial complex IV, deficiency, nuclear type 9 CEMCOX3 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 MONDO:0014668 Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA6 gene. https://github.com/monarch-initiative/mondo/issues/4521 COA6 fatal infantile encephalocardiomyopathy cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 4 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 fatal infantile encephalocardiomyopathy caused by mutation in COA6 mitochondrial complex IV deficiency, nuclear type 13 CEMCOX4 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 MONDO:0014669 Any cone-rod dystrophy in which the cause of the disease is a mutation in the DRAM2 gene. DRAM2 cone-rod dystrophy cone-rod dystrophy 21 cone-rod dystrophy caused by mutation in DRAM2 cone-rod dystrophy type 21 CORD21 retinal dystrophy with early macular involvement cone-rod dystrophy 21 MONDO:0014670 Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADGRG6 gene. https://github.com/monarch-initiative/mondo/issues/4069 ADGRG6 lethal congenital contracture syndrome lethal congenital contracture syndrome 9 lethal congenital contracture syndrome caused by mutation in ADGRG6 lethal congenital contracture syndrome type 9 LCCS9 lethal congenital contracture syndrome 9 MONDO:0014671 Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the SLC25A46 gene. CMT6B Charcot-Marie-Tooth disease, type 6B HMSN 6B HMSN6B SLC25A46 hereditary motor and sensory neuropathy type 6 hereditary motor and sensory neuropathy type 6 caused by mutation in SLC25A46 neuropathy, hereditary motor and sensory, type 6B neuropathy, hereditary motor and sensory, type VIB neuropathy, hereditary motor and sensory, type 6B MONDO:0014672 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SPARC gene. https://github.com/monarch-initiative/mondo/issues/4948 OI17 SPARC osteogenesis imperfecta osteogenesis imperfecta caused by mutation in SPARC osteogenesis imperfecta type XVII osteogenesis imperfecta, type 17 osteogenesis imperfecta, type XVII osteogenesis imperfecta type 17 MONDO:0014673 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LSS gene. total early-onset cataract CTRCT44 LSS early-onset non-syndromic cataract cataract 44 cataract type 44 early-onset non-syndromic cataract caused by mutation in LSS cataract 44 MONDO:0014674 Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the APPL1 gene. APPL1 maturity-onset diabetes of the young (disease) MODY14 maturity-onset diabetes of the young (disease) caused by mutation in APPL1 maturity-onset diabetes of the young, type 14 maturity-onset diabetes of the young type 14 MONDO:0014675 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RIPOR2 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB104 RIPOR2 autosomal recessive nonsyndromic deafness autosomal recessive deafness 104 autosomal recessive nonsyndromic deafness 104 autosomal recessive nonsyndromic deafness caused by mutation in RIPOR2 autosomal recessive nonsyndromic deafness type 104 deafness, autosomal recessive 104 deafness, autosomal recessive type 104 autosomal recessive nonsyndromic hearing loss 104 MONDO:0014676 Any autosomal recessive Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the LMNA gene. Emery-Dreifuss muscular dystrophy 3, autosomal recessive LMNA autosomal recessive Emery-Dreifuss muscular dystrophy autosomal recessive Emery-Dreifuss muscular dystrophy caused by mutation in LMNA EDMD3 EMERY-Dreifuss muscular dystrophy 3, autosomal recessive Emery-Dreifuss muscular dystrophy 3, autosomal recessive MONDO:0014677 Any achromatopsia in which the cause of the disease is a mutation in the ATF6 gene. ACHM7 ATF6 achromatopsia achromatopsia 7 achromatopsia caused by mutation in ATF6 achromatopsia type 7 achromatopsia 7 MONDO:0014678 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MYT1L gene. https://github.com/monarch-initiative/mondo/issues/4521 MRD39 MYT1L autosomal dominant non-syndromic intellectual disability autosomal dominant intellectual disability 39 autosomal dominant mental retardation 39 autosomal dominant non-syndromic intellectual disability caused by mutation in MYT1L intellectual developmental disorder, autosomal dominant 39 intellectual disability, autosomal dominant 39 intellectual disability, autosomal dominant type 39 mental retardation, autosomal dominant type 39 autosomal dominant non-syndromic intellectual disability 39 chromosome 2P25.3 Duplication syndrome chromosome 2P25.3 deletion syndrome mental retardation, autosomal dominant 39 intellectual disability, autosomal dominant 39 MONDO:0014679 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis PMGYCHA polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MONDO:0014680 A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the IRF3 gene. https://github.com/monarch-initiative/mondo/issues/4882 https://github.com/monarch-initiative/mondo/issues/5671 Herpes simplex encephalitis, susceptibility to, type 7 IRF3 herpes simplex encephalitis herpes simplex encephalitis caused by mutation in IRF3 herpes simplex encephalitis, susceptibility to, 7 Herpes simplex encephalitis, susceptibility to, 5 IIAE7 encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 7 encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 7 encephalopathy, acute, infection-induced, susceptibility to, 7 herpes simplex encephalitis, susceptibility to, 7 MONDO:0014681 Any thyroid cancer, nonmedullary in which the cause of the disease is a mutation in the FOXE1 gene. FOXE1 thyroid cancer, nonmedullary thyroid cancer, nonmedullary caused by mutation in FOXE1 thyroid cancer, nonmedullary, 4 thyroid cancer, nonmedullary, type 4 NMTC4 thyroid cancer, nonmedullary, 4 MONDO:0014682 Any thyroid cancer, nonmedullary in which the cause of the disease is a mutation in the HABP2 gene. HABP2 thyroid cancer, nonmedullary thyroid cancer, nonmedullary caused by mutation in HABP2 thyroid cancer, nonmedullary, 5 thyroid cancer, nonmedullary, type 5 NMTC5 thyroid cancer, nonmedullary, 5 MONDO:0014683 MDDGA9 Walker-Warburg syndrome or muscle-eye brain disease, Dag1-related muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 MONDO:0014684 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT5 gene. COXPD26 TRMT5 combined oxidative phosphorylation deficiency combined oxidative phosphorylation deficiency caused by mutation in TRMT5 combined oxidative phosphorylation deficiency type 26 combined oxidative phosphorylation deficiency 26 combined oxidative phosphorylation defect type 26 MONDO:0014685 Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the LMNB2 gene. EPM9 LMNB2 progressive myoclonic epilepsy PME type 9 epilepsy, progressive myoclonic, type 9 progressive myoclonic epilepsy caused by mutation in LMNB2 progressive myoclonic epilepsy due to LMNB2 deficiency progressive myoclonus epilepsy type 9 epilepsy, progressive myoclonic, 9 progressive myoclonic epilepsy type 9 MONDO:0014686 https://github.com/monarch-initiative/mondo/issues/4948 short stature, microcephaly, and endocrine dysfunction SSMED short stature, microcephaly, and endocrine dysfunction MONDO:0014687 Any retinitis pigmentosa in which the cause of the disease is a mutation in the HGSNAT gene. HGSNAT retinitis pigmentosa RP73 retinitis pigmentosa 73 retinitis pigmentosa caused by mutation in HGSNAT retinitis pigmentosa type 73 retinitis pigmentosa 73 MONDO:0014688 An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23. SRTD14 short-rib thoracic dysplasia 14 with polydactyly short-rib thoracic dysplasia 14 with polydactyly MONDO:0014689 https://github.com/monarch-initiative/mondo/issues/4948 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome KFS4 Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome MONDO:0014690 A dyskeratosis congenita that has material basis in an autosomal dominant mutation of ACD on chromosome 16q22.1. DKCA6 dyskeratosis congenita, autosomal dominant 6 dyskeratosis congenita, autosomal dominant type 6 autosomal dominant dyskeratosis congenita 6 dyskeratosis congenita, autosomal recessive 7 dyskeratosis congenita, autosomal dominant 6 MONDO:0014691 Any Noonan syndrome in which the cause of the disease is a mutation in the SOS2 gene. NS9 Noonan syndrome 9 Noonan syndrome caused by mutation in SOS2 Noonan syndrome type 9 SOS2 Noonan syndrome Noonan syndrome 9 MONDO:0014692 Any retinitis pigmentosa in which the cause of the disease is a mutation in the BBS2 gene. BBS2 retinitis pigmentosa RP74 retinitis pigmentosa 74 retinitis pigmentosa caused by mutation in BBS2 retinitis pigmentosa type 74 retinitis pigmentosa 74 MONDO:0014693 Any Noonan syndrome in which the cause of the disease is a mutation in the LZTR1 gene. LZTR1 Noonan syndrome NS10 Noonan syndrome 10 Noonan syndrome caused by mutation in LZTR1 Noonan syndrome type 10 Noonan syndrome 10 MONDO:0014694 Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the RIPPLY2 gene. https://github.com/monarch-initiative/mondo/issues/4948 RIPPLY2 autosomal recessive spondylocostal dysostosis autosomal recessive spondylocostal dysostosis caused by mutation in RIPPLY2 spondylocostal dysostosis 6, autosomal recessive SCDO6 spondylocostal dysostosis 6 spondylocostal dysostosis 6, autosomal recessive MONDO:0014695 Any malignant glioma in which the cause of the disease is a mutation in the POT1 gene. POT1 malignant glioma Pot1 malignant glioma glioma susceptibility 9 glioma susceptibility type 9 malignant glioma caused by mutation in POT1 malignant glioma caused by mutation in Pot1 GLM9 glioma susceptibility 9 MONDO:0014696 COFS3 cerebrooculofacioskeletal syndrome 3 cerebrooculofacioskeletal syndrome type 3 cerebrooculofacioskeletal syndrome 3 MONDO:0014697 Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB1 gene. NFKB1 common variable immunodeficiency common variable immunodeficiency caused by mutation in NFKB1 immunodeficiency, common variable, 12 immunodeficiency, common variable, type 12 CVID12 NFKB1 deficiency immunodeficiency, common variable, 12 MONDO:0014698 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities EHLMRS epilepsy, hearing loss, and intellectual disability syndrome epilepsy, hearing loss, and mental retardation syndrome microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome MONDO:0014699 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CHAMP1 gene. CHAMP1 autosomal dominant non-syndromic intellectual disability MRD40 autosomal dominant intellectual disability 40 autosomal dominant mental retardation 40 autosomal dominant non-syndromic intellectual disability caused by mutation in CHAMP1 intellectual disability, autosomal dominant 40 intellectual disability, autosomal dominant type 40 mental retardation, autosomal dominant type 40 autosomal dominant non-syndromic intellectual disability 40 mental retardation, autosomal dominant 40 intellectual disability, autosomal dominant 40 MONDO:0014700 Au-Kline syndrome neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation AU-Kline syndrome AUKS neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation MONDO:0014701 https://github.com/monarch-initiative/mondo/issues/4948 SED, Stanescu type SEDSTN spondyloepiphyseal dysplasia, Stanescu type spondyloepiphyseal dysplasia, Stanescu type MONDO:0014702 Any autosomal recessive complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene. https://github.com/Orphanet/ORDO/issues/8 https://github.com/monarch-initiative/mondo/issues/5588 ALDH18A1 autosomal recessive complex spastic paraplegia AR-SPG9B SPG9B autosomal recessive complex spastic paraplegia caused by mutation in ALDH18A1 autosomal recessive complex spastic paraplegia type 9B autosomal recessive spastic paraplegia 9B hereditary spastic paraplegia type 9B hereditary spastic paraplegia 9B spastic paraplegia 9B, autosomal recessive Editor note: the DO definition is hereditary spastic paraplegia that has material basis in mutation in the ALDH18A1, but this does not differentiate from 9A. autosomal recessive complex spastic paraplegia type 9B MONDO:0014703 Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DLL4 gene. https://github.com/monarch-initiative/mondo/issues/4948 Adams-Oliver syndrome 6 Adams-Oliver syndrome caused by mutation in DLL4 Adams-Oliver syndrome type 6 DLL4 Adams-Oliver syndrome AOS6 Adams-Oliver syndrome 6 MONDO:0014704 Kosaki overgrowth syndrome KOGS skeletal overgrowth with Facial Dysmorphism, hyperelastic skin, White matter lesions, and neurologic deterioration skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome MONDO:0014705 Any craniosynostosis in which the cause of the disease is a mutation in the ZIC1 gene. ZIC1 craniosynostosis craniosynostosis 6 craniosynostosis caused by mutation in ZIC1 craniosynostosis type 6 CRS6 craniosynostosis 6 MONDO:0014706 An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has material basis in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. ADCL3 cutis laxa, autosomal dominant 3 cutis laxa, autosomal dominant type 3 autosomal dominant cutis laxa 3 cutis laxa, autosomal dominant 3 MONDO:0014707 14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and myeloproliferative neoplasms, especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed. https://github.com/monarch-initiative/mondo/issues/3492 dup(14)q(32) predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication trisomy 14q32 chromosome 14q32 DUPLICATION syndrome, 700-KB myeloproliferative neoplasms, familial, susceptibility to 14q32 duplication syndrome MONDO:0014708 Ring chromosome 14 syndrome is characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears. https://github.com/monarch-initiative/mondo/issues/4521 Ring chromosome type 14 ring chromosome 14 syndrome, isolated cases RING chromosome 14 syndrome Ring 14 chromosome 14 ring ring chromosome 14 https://rarediseases.info.nih.gov/diseases/6072/ring-chromosome-14 MONDO:0014710 Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the RORC gene. IMD42 RORC autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency autosomal recessive MSMD due to complete RORgamma receptor defiency autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in RORC autosomal recessive primary immunodeficiency due to RORC mutation immunodeficiency 42 immunodeficiency type 42 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency MONDO:0014711 Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the HARS gene. CMT2W Charcot-Marie-Tooth disease type 2 caused by mutation in HARS Charcot-Marie-Tooth disease, axonal, type 2w Charcot-Marie-Tooth neuropathy type 2W HARS Charcot-Marie-Tooth disease type 2 autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation autosomal dominant axonal Charcot-Marie-Tooth disease type 2W Charcot-Marie-Tooth disease, axonal type 2W Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2W Charcot-Marie-Tooth disease, axonal, type 2W Charcot-Marie-Tooth neuropathy, type 2W autosomal dominant Charcot-Marie-Tooth disease type 2W MONDO:0014712 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the TRAF3IP1 gene. SLSN9 Senior-Loken syndrome 9 Senior-Loken syndrome 9; SLSN9 Senior-Loken syndrome caused by mutation in TRAF3IP1 Senior-Loken syndrome type 9 TRAF3IP1 Senior-Loken syndrome Senior-Loken syndrome 9 MONDO:0014713 Any porokeratosis (disease) in which the cause of the disease is a mutation in the FDPS gene. FDPS porokeratosis (disease) POROK9 porokeratosis (disease) caused by mutation in FDPS porokeratosis 9, multiple types porokeratosis 9, multiple types; POROK9 porokeratosis 9, multiple types MONDO:0014714 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal. SCBMS seizures, cortical blindness, microcephaly syndrome seizures, cortical blindness, and microcephaly syndrome progressive microcephaly-seizures-cortical blindness-developmental delay syndrome MONDO:0014715 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection is a rare primary immunodeficiency due to a defect in innate immunity disorder characterized by selective susceptibility to viral infections, particularly after systemic challenge with live viral vaccines, such as the measles, mumps and rubella (MMR) vaccine. Patients present severe, potentially fatal, manifestations to viral illness, including encephalitis, hepatitis and pneumonitis. IMD44 immunodeficiency 44 immunodeficiency type 44 primary immunodeficiency with post-MMR vaccine viral infection primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection MONDO:0014716 A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterized by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behavior, and café-au-lait spots, among others. https://github.com/monarch-initiative/mondo/issues/5588 MINDS syndrome Smith-Kingsmore syndrome SKS SMITH-Kingsmore syndrome macrocephaly, seizures, intellectual disability, umbilical hernia, and Facial Dysmorphism macrocephaly, seizures, mental retardation, umbilical hernia, and Facial Dysmorphism macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome MONDO:0014717 Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades. EPM10 epilepsy, progressive myoclonic, 10 epilepsy, progressive myoclonic, type 10 early-onset Lafora body disease MONDO:0014718 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC12A5 gene. https://github.com/monarch-initiative/mondo/issues/4521 DEE34 EIEE34 SLC12A5 early infantile epileptic encephalopathy developmental and epileptic encephalopathy 34 early infantile epileptic encephalopathy caused by mutation in SLC12A5 epileptic encephalopathy, early infantile, 34 epileptic encephalopathy, early infantile, 34; EIEE34 epileptic encephalopathy, early infantile, type 34 developmental and epileptic encephalopathy, 34 MONDO:0014719 https://github.com/monarch-initiative/mondo/issues/4521 DEE35 EIEE35 ITPA-related encephalopathy developmental and epileptic encephalopathy 35 epileptic encephalopathy, early infantile, 35 epileptic encephalopathy, early infantile, type 35 developmental and epileptic encephalopathy, 35 MONDO:0014720 Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a variant of autosomal dominant optic atrophy (ADOA) associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness. DOA+ optic atrophy type 8 optic atrophy-deafness-polyneuropathy-myopathy syndrome Treft-Sanborn-Carey syndrome dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy optic atrophy - deafness- polyneuropathy - myopathy autosomal dominant optic atrophy plus syndrome MONDO:0014722 https://github.com/monarch-initiative/mondo/issues/4948 Roifman syndrome spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome RFMN ROIFMAN syndrome spondyloepiphseal dysplasia, retinal dystrophy and antibody deficiency spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency Roifman syndrome https://rarediseases.info.nih.gov/diseases/9163/roifman-syndrome MONDO:0014723 https://github.com/monarch-initiative/mondo/issues/5588 17p11.2p12 microduplication syndrome YUHAL Yuan-Harel-Lupski syndrome dup(17)(p11.2p12) trisomy 17p11.2-p12 trisomy 17p11.2p12 YUAN-Harel-Lupski syndrome PMP22-RAI1 contiguous gene duplication syndrome MONDO:0014724 Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN2 gene. JBTS24 Joubert syndrome 24 Joubert syndrome caused by mutation in TCTN2 Joubert syndrome type 24 TCTN2 Joubert syndrome Joubert syndrome 24 MONDO:0014725 https://github.com/monarch-initiative/mondo/issues/5588 ASCT1 deficiency spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome SPATCCM spastic tetraplegia, thin corpus callosum, and progressive microcephaly spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome MONDO:0014726 Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the SPG11 gene. ARCMT2X CMT2X Charcot-Marie-Tooth disease caused by mutation in SPG11 Charcot-Marie-Tooth disease, axonal, type 2x Charcot-Marie-Tooth neuropathy type 2X SPG11 Charcot-Marie-Tooth disease autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation autosomal recessive axonal Charcot-Marie-Tooth disease type 2X Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2X Charcot-Marie-Tooth disease, axonal, type 2X Charcot-Marie-Tooth neuropathy, type 2X autosomal recessive Charcot Marie Tooth disease type 2X autosomal recessive Charcot-Marie-Tooth disease type 2X Charcot-Marie-Tooth disease axonal type 2X MONDO:0014727 IMD45 immunodeficiency 45 immunodeficiency type 45 immunodeficiency 45 MONDO:0014728 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the CARS2 gene. CARS2 combined oxidative phosphorylation deficiency COXPD27 combined oxidative phosphorylation deficiency 27 combined oxidative phosphorylation deficiency caused by mutation in CARS2 combined oxidative phosphorylation deficiency type 27 combined oxidative phosphorylation defect type 27 MONDO:0014729 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the MAG gene. MAG hereditary spastic paraplegia SPG75 autosomal recessive spastic paraplegia 75 autosomal recessive spastic paraplegia type 75 hereditary spastic paraplegia caused by mutation in MAG hereditary spastic paraplegia type 75 spastic paraplegia 75, autosomal recessive hereditary spastic paraplegia 75 MONDO:0014730 MCPH16 microcephaly 16, primary, autosomal recessive microcephaly 16, primary, autosomal recessive; MCPH16 microcephaly 16, primary, autosomal recessive MONDO:0014731 Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects. https://github.com/monarch-initiative/mondo/issues/5588 SSM syndrome SSMS seizures, scoliosis, and macrocephaly syndrome seizures-scoliosis-macrocephaly syndrome MONDO:0014732 Any leukodystrophy in which the cause of the disease is a mutation in the VPS11 gene. https://github.com/monarch-initiative/mondo/issues/5588 HLD12 VPS11 leukodystrophy VPS11-related autosomal recessive hypomyelinating leukoencephalopathy hypomyelinating leukodystrophy type 12 leukodystrophy caused by mutation in VPS11 leukodystrophy, hypomyelinating, 12 leukodystrophy, hypomyelinating, type 12 VPS11-related autosomal recessive hypomyelinating leukodystrophy hypomyelinating leukodystrophy 12 MONDO:0014733 SURF1-related Charcot-Marie-Tooth disease type 4 (CMT4K) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions). CMT4K Charcot-Marie-Tooth disease type 4 caused by mutation in SURF1 Charcot-Marie-Tooth disease type 4K Charcot-Marie-Tooth disease, type 4k SURF1 Charcot-Marie-Tooth disease type 4 SURF1-related CMT4 SURF1-related Charcot-Marie-Tooth disease type 4 SURF1-related severe demyelinating Charcot-Marie-Tooth disease autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4K Charcot-Marie-Tooth disease, type 4K Charcot-Marie-Tooth neuropathy, demyelinating, autosomal recessive, type 4K Charcot-Marie-Tooth disease type 4K MONDO:0014734 https://github.com/monarch-initiative/mondo/issues/2543 EIG14 epilepsy, idiopathic generalized, susceptibility to, 14 epilepsy, idiopathic generalized, susceptibility to, 14; EIG14 epilepsy, idiopathic generalized, susceptibility to, type 14 susceptibility to idiopathic generalized epilepsy 14 epilepsy, idiopathic generalized, susceptibility to, 14 MONDO:0014735 Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the VCP gene. https://github.com/monarch-initiative/mondo/issues/4521 CMT2 due to VCP mutation CMT2Y Charcot-Marie-Tooth disease type 2 caused by mutation in VCP Charcot-Marie-Tooth disease, axonal, type 2y Charcot-Marie-Tooth disease, type 2Y Charcot-Marie-Tooth neuropathy type 2Y VCP Charcot-Marie-Tooth disease type 2 autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation autosomal dominant axonal Charcot-Marie-Tooth type 2Y Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Y Charcot-Marie-Tooth disease, axonal, type 2Y Charcot-Marie-Tooth neuropathy, type 2Y autosomal dominant Charcot-Marie-Tooth disease type 2Y Charcot-Marie-Tooth disease type 2Y MONDO:0014736 Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the MORC2 gene. CMT2Z Charcot-Marie-Tooth disease caused by mutation in MORC2 Charcot-Marie-Tooth disease, axonal, type 2z Charcot-Marie-Tooth neuropathy type 2Z MORC2 Charcot-Marie-Tooth disease autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation autosomal dominant axonal Charcot-Marie-Tooth disease type 2Z Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Z Charcot-Marie-Tooth disease, axonal, type 2Z Charcot-Marie-Tooth neuropathy, type 2Z autosomal dominant Charcot-Marie-Tooth disease type 2Z Charcot-Marie-Tooth disease axonal type 2Z MONDO:0014737 Any dehydrated hereditary stomatocytosis in which the cause of the disease is a mutation in the KCNN4 gene. DHS2 Dehydrated hereditary stomatocytosis 2 Dehydrated hereditary stomatocytosis type 2 KCNN4 dehydrated hereditary stomatocytosis dehydrated hereditary stomatocytosis 2; DHS2 dehydrated hereditary stomatocytosis caused by mutation in KCNN4 Desiccytosis Gardos xerocytosis Gardos dehydrated hereditary stomatocytosis 2 MONDO:0014738 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KITLG gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DCUA DFNA69 KITLG autosomal dominant nonsyndromic deafness autosomal dominant deafness 69 autosomal dominant nonsyndromic deafness 69 autosomal dominant nonsyndromic deafness caused by mutation in KITLG autosomal dominant nonsyndromic deafness type 69 deafness, autosomal dominant 69 deafness, autosomal dominant 69, unilateral or asymmetric deafness, congenital, unilateral or asymmetric unilateral or asymmetric congenital deafness autosomal dominant nonsyndromic hearing loss 69 MONDO:0014739 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MET gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB97 MET autosomal recessive nonsyndromic deafness autosomal recessive deafness 97 autosomal recessive nonsyndromic deafness 97 autosomal recessive nonsyndromic deafness caused by mutation in MET autosomal recessive nonsyndromic deafness type 97 deafness, autosomal recessive 97 deafness, autosomal recessive type 97 autosomal recessive nonsyndromic hearing loss 97 MONDO:0014740 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the HOMER2 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA68 HOMER2 autosomal dominant nonsyndromic deafness autosomal dominant deafness 68 autosomal dominant nonsyndromic deafness 68 autosomal dominant nonsyndromic deafness caused by mutation in HOMER2 autosomal dominant nonsyndromic deafness type 68 deafness, autosomal dominant 68 deafness, autosomal dominant type 68 autosomal dominant nonsyndromic hearing loss 68 MONDO:0014741 https://github.com/monarch-initiative/mondo/issues/5424 DESANTO-SHINAWI syndrome DESSH Desanto-Shinawi syndrome facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation chromosome 10P12-p11 deletion syndrome developmental delay, behavioral abnormalities, Facial Dysmorphism, and ocular abnormalities DeSanto-Shinawi syndrome due to WAC point mutation MONDO:0014742 Any Parkinson disease in which the cause of the disease is a mutation in the CHCHD2 gene. CHCHD2 Parkinson disease PARK22 Parkinson disease 22, autosomal dominant Parkinson disease 22, autosomal dominant; PARK22 Parkinson disease caused by mutation in CHCHD2 Parkinson disease 22, autosomal dominant MONDO:0014743 Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the PEX5 gene. https://github.com/monarch-initiative/mondo/issues/2632 https://github.com/monarch-initiative/mondo/issues/4948 PEX5 rhizomelic chondrodysplasia punctata RCDP5 Rcdp5 rhizomelic chondrodysplasia punctata caused by mutation in PEX5 rhizomelic chondrodysplasia punctata type 5 rhizomelic chondrodysplasia punctata, type 5 rhizomelic chondrodysplasia punctata type 5 MONDO:0014744 An autosomal recessive cerebellar ataxia that has material basis in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13. SCAR21 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome autosomal recessive spinocerebellar ataxia 21 with hepatopathy autosomal recessive spinocerebellar ataxia type 21 spinocerebellar ataxia, autosomal recessive 21 spinocerebellar ataxia, autosomal recessive type 21 autosomal recessive spinocerebellar ataxia 21 spinocerebellar ataxia, autosomal recessive 21, with hepatopathy acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome MONDO:0014745 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the COL13A1 gene. CMS19 COL13A1 congenital myasthenic syndrome congenital myasthenic syndrome caused by mutation in COL13A1 congenital myasthenic syndrome type 19 myasthenic syndrome, congenital, 19 myasthenic syndrome, congenital, type 19 congenital myasthenic syndrome 19 MONDO:0014746 https://github.com/monarch-initiative/mondo/issues/5588 CDG syndrome type IIn CDG-IIn CDG2N SLC39A8 deficiency carbohydrate deficient glycoprotein syndrome type IIn congenital disorder of glycosylation type 2n congenital disorder of glycosylation type IIn congenital disorder of glycosylation, type IIn CDG IIn SLC39A8-CDG MONDO:0014747 https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 retinal dystrophy and iris coloboma with or without cataract RDICC retinal dystrophy and iris coloboma with or without congenital cataract familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome MONDO:0014748 https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5588 SEMDFA spondyloepimetaphyseal dysplasia, faden-Alkuraya type spondyloepimetaphyseal dysplasia, faden-ALKURAYA type spondyloepimetaphyseal dysplasia, progressive, with short stature, Facial Dysmorphism, short fourth metatarsals, and intellectual disability, with or without craniosynostosis spondyloepimetaphyseal dysplasia, progressive, with short stature, Facial Dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome MONDO:0014749 Any tooth agenesis in which the cause of the disease is a mutation in the LRP6 gene. LRP6 tooth agenesis STHAG7 tooth agenesis caused by mutation in LRP6 tooth agenesis, selective, 7 tooth agenesis, selective, 7; STHAG7 tooth agenesis, selective, type 7 tooth agenesis, selective, 7 MONDO:0014750 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the GAS8 gene. CILD33 GAS8 primary ciliary dyskinesia ciliary dyskinesia, primary, 33 ciliary dyskinesia, primary, type 33 primary ciliary dyskinesia 33 without situs inversus primary ciliary dyskinesia caused by mutation in GAS8 primary ciliary dyskinesia type 33 ciliary dyskinesia, primary, 33, without situs inversus primary ciliary dyskinesia 33 MONDO:0014751 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies. https://github.com/monarch-initiative/mondo/issues/5588 palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome CPRF cleft palate, psychomotor retardation, and distinctive FACIAL features cleft palate, psychomotor retardation, and distinctive Facial features palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome MONDO:0014752 Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP107 gene. NPHS11 NUP107 familial nephrotic syndrome Nup107 familial nephrotic syndrome familial nephrotic syndrome caused by mutation in NUP107 familial nephrotic syndrome caused by mutation in Nup107 nephrotic syndrome, type 11 nephrotic syndrome, type 11; NPHS11 nephrotic syndrome, type 11 MONDO:0014753 autosomal recessive isolated optic atrophy autosomal recessive nonsyndromic optic atrophy ORDO treats as isolated but includes syndromic forms as OMIM xrefs autosomal recessive optic atrophy MONDO:0014754 Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ7 gene. COQ10D8 COQ7 coenzyme Q10 deficiency coenzyme Q10 deficiency caused by mutation in COQ7 coenzyme Q10 deficiency, primary, 8 coenzyme Q10 deficiency, primary, type 8 primary coenzyme Q10 deficiency 8 primary coenzyme Q10 deficiency 8 MONDO:0014755 https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 CSCSC2 MAPRE2 multiple benign circumferential skin creases on limbs multiple benign circumferential skin creases on limbs caused by mutation in MAPRE2 skin creases, congenital symmetric circumferential, 2 skin creases, congenital symmetric circumferential, 2; CSCSC2 skin creases, congenital symmetric circumferential, type 2 symmetric circumferential skin creases, congenital, 2 skin creases, congenital symmetric circumferential, 2 MONDO:0014756 Any essential tremor in which the cause of the disease is a mutation in the TENM4 gene. https://github.com/monarch-initiative/mondo/issues/4521 ETM5 TENM4 essential tremor essential tremor caused by mutation in TENM4 essential tremor, hereditary, 5 tremor, hereditary essential, 5 tremor, hereditary essential, 5; ETM5 tremor, hereditary essential, type 5 tremor, hereditary essential, 5 MONDO:0014757 https://github.com/monarch-initiative/mondo/issues/5588 Takenouchi-Kosaki syndrome TAKENOUCHI-Kosaki syndrome TKS macrothrombocytopenia and intellectual disability syndrome macrothrombocytopenia and mental retardation syndrome macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome MONDO:0014758 Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the MECOM gene. https://github.com/monarch-initiative/mondo/issues/3952 https://github.com/monarch-initiative/mondo/issues/4948 MECOM radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome RUSAT2 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in MECOM radioulnar synostosis with amegakaryocytic thrombocytopenia 2 radioulnar synostosis with amegakaryocytic thrombocytopenia 2; RUSAT2 radioulnar synostosis with amegakaryocytic thrombocytopenia type 2 radioulnar synostosis with amegakaryocytic thrombocytopenia 2 MONDO:0014759 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the HNMT gene. https://github.com/monarch-initiative/mondo/issues/4521 HNMT autosomal recessive non-syndromic intellectual disability MRT51 autosomal recessive non-syndromic intellectual disability caused by mutation in HNMT intellectual developmental disorder, autosomal recessive 51 intellectual disability, autosomal recessive 51 intellectual disability, autosomal recessive type 51 mental retardation, autosomal recessive 51 mental retardation, autosomal recessive type 51 intellectual disability, autosomal recessive 51 MONDO:0014760 Cid due to TFRC deficiency IMD46 immunodeficiency 46 immunodeficiency type 46 combined immunodeficiency due to TFRC deficiency TFRC-related combined immunodeficiency MONDO:0014762 Any visceral heterotaxy in which the cause of the disease is a mutation in the MMP21 gene. HTX7 MMP21 visceral heterotaxy heterotaxy, visceral, 7, autosomal heterotaxy, visceral, 7, autosomal; HTX7 visceral heterotaxy caused by mutation in MMP21 heterotaxy, visceral, 7, autosomal MONDO:0014764 Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement. https://github.com/monarch-initiative/mondo/issues/5588 SPPRS syndrome spastic paraplegia-psychomotor retardation-seizures syndrome SPPRS spastic paraplegia and psychomotor retardation with or without seizures spastic paraplegia-severe developmental delay-epilepsy syndrome MONDO:0014765 Any woolly hair in which the cause of the disease is a mutation in the KRT25 gene. ARWH3 KRT25 woolly hair (disease) woolly hair (disease) caused by mutation in KRT25 woolly hair, autosomal recessive 3 woolly hair, autosomal recessive type 3 woolly hair, autosomal recessive 3, with hypotrichosis woolly hair, autosomal recessive 3 MONDO:0014766 LDAMD leukodystrophy and acquired microcephaly with or without dystonia leukodystrophy and acquired microcephaly with or without dystonia; MONDO:0014767 Any Seckel syndrome in which the cause of the disease is a mutation in the TRAIP gene. https://github.com/monarch-initiative/mondo/issues/4948 SCKL9 Seckel syndrome 9 Seckel syndrome caused by mutation in TRAIP Seckel syndrome type 9 TRAIP Seckel syndrome Seckel syndrome 9 MONDO:0014768 Any CADASIL in which the cause of the disease is a mutation in the HTRA1 gene. CADASIL 2 CADASIL caused by mutation in HTRA1 CADASIL type 2 CADASIL2 HTRA1 CADASIL autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 MONDO:0014769 oocyte maturation defect OOMD inherited oocyte maturation defect MONDO:0014770 Any Joubert syndrome in which the cause of the disease is a mutation in the CEP104 gene. CEP104 Joubert syndrome JBTS25 Joubert syndrome 25 Joubert syndrome caused by mutation in CEP104 Joubert syndrome type 25 Joubert syndrome 25 MONDO:0014771 Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0556 gene. JBTS26 Joubert syndrome 26 Joubert syndrome caused by mutation in KIAA0556 Joubert syndrome type 26 KIAA0556 Joubert syndrome Joubert syndrome 26 MONDO:0014772 Any cleft lip/palate in which the cause of the disease is a mutation in the DLX4 gene. DLX4 cleft lip/palate OFC15 cleft lip/palate caused by mutation in DLX4 orofacial cleft 15 orofacial cleft type 15 orofacial cleft 15 MONDO:0014773 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 MRFACD cardiac anomalies - developmental delay - facial dysmorphism syndrome impaired intellectual development and distinctive facial features with or without cardiac defects intellectual disability and distinctive Facial features with or without Cardiac defects mental retardation and distinctive Facial features with or without Cardiac defects MED13L haploinsufficiency syndrome MED13L syndrome intellectual disability and distinctive FACIAL features with or without CARDIAC defects intellectual disability and distinctive facial features with or without cardiac defects mental retardation and distinctive FACIAL features with or without CARDIAC defects cardiac anomalies - developmental delay - facial dysmorphism syndrome MONDO:0014774 NBLST7 neuroblastoma, susceptibility to, 7 neuroblastoma, susceptibility to, 7; NBLST7 neuroblastoma, susceptibility to, type 7 neuroblastoma, susceptibility to, 7 MONDO:0014775 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SLC25A26 gene. COXPD28 SLC25A26 combined oxidative phosphorylation deficiency combined oxidative phosphorylation defect type 28 combined oxidative phosphorylation deficiency 28 combined oxidative phosphorylation deficiency caused by mutation in SLC25A26 combined oxidative phosphorylation deficiency type 28 neonatal severe cardiopulmonary failure due to mitochondrial methylation defect combined oxidative phosphorylation deficiency 28 MONDO:0014776 SCA42 spinocerebellar ataxia 42 spinocerebellar ataxia type 42 spinocerebellar ataxia type 42 MONDO:0014777 Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the UNC80 gene. IHPRF2 UNC80 hypotonia, infantile, with psychomotor retardation and characteristic facies hypotonia, infantile, with psychomotor retardation and characteristic facies 2 hypotonia, infantile, with psychomotor retardation and characteristic facies 2; IHPRF2 hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in UNC80 hypotonia, infantile, with psychomotor retardation and characteristic facies type 2 hypotonia, infantile, with psychomotor retardation and characteristic facies 2 MONDO:0014778 LAMSHF Lamb-Shaffer syndrome Lamb-Shaffer syndrome; LAMSHF Lamb-Shaffer syndrome MONDO:0014779 Any Wilms tumor in which the cause of the disease is a mutation in the REST gene. https://github.com/monarch-initiative/mondo/issues/4521 WT6 Wilms tumor 6 Wilms tumor 6; WT6 Wilms tumor type 6 Wilms tumor 6, susceptibility to Wilms tumor 6 MONDO:0014780 Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGY gene. HPMRS6 PIGY hyperphosphatasia-intellectual disability syndrome hyperphosphatasia with intellectual disability syndrome 6 hyperphosphatasia with intellectual disability syndrome 6; HPMRS6 hyperphosphatasia with intellectual disability syndrome type 6 hyperphosphatasia with mental retardation syndrome 6 hyperphosphatasia with mental retardation syndrome type 6 hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGY glycosylphosphatidylinositol biosynthesis defect 12 hyperphosphatasia with intellectual disability syndrome 6 MONDO:0014781 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TXN2 gene. COXPD29 TXN2 combined oxidative phosphorylation deficiency combined oxidative phosphorylation deficiency 29 combined oxidative phosphorylation deficiency 29; COXPD29 combined oxidative phosphorylation deficiency caused by mutation in TXN2 combined oxidative phosphorylation deficiency type 29 combined oxidative phosphorylation deficiency 29 MONDO:0014782 Autosomal recessive limb-girdle muscular dystrophy type 2X is a rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers. https://github.com/monarch-initiative/mondo/issues/4521 BVES autosomal recessive limb-girdle muscular dystrophy LGMD2X autosomal recessive limb-girdle muscular dystrophy caused by mutation in BVES autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome muscular dystrophy, limb-girdle, autosomal recessive 25 muscular dystrophy, limb-girdle, type 2X muscular dystrophy, limb-girdle, type 2x autosomal recessive limb-girdle muscular dystrophy type 2X MONDO:0014784 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size. IHPMR hypotonia, infantile, with psychomotor retardation severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome MONDO:0014785 Any microcephaly, short stature, and impaired glucose metabolism in which the cause of the disease is a mutation in the PPP1R15B gene. MSSGM2 PPP1R15B microcephaly, short stature, and impaired glucose metabolism microcephaly, short stature, and impaired glucose metabolism 2 microcephaly, short stature, and impaired glucose metabolism 2; MSSGM2 microcephaly, short stature, and impaired glucose metabolism caused by mutation in PPP1R15B microcephaly, short stature, and impaired glucose metabolism type 2 microcephaly, short stature, and impaired glucose metabolism 2 MONDO:0014786 Any IgA glomerulonephritis in which the cause of the disease is a mutation in the SPRY2 gene. IGAN3 IgA glomerulonephritis caused by mutation in SPRY2 IgA nephropathy, susceptibility to, 3 IgA nephropathy, susceptibility to, 3; IGAN3 IgA nephropathy, susceptibility to, type 3 SPRY2 IgA glomerulonephritis susceptibility to IgA nephropathy 3 IgA nephropathy, susceptibility to, 3 MONDO:0014787 https://github.com/monarch-initiative/mondo/issues/5588 CCAFCA corpus callosum, agenesis of, with Facial anomalies and cerebellar ataxia Birk-Flusser syndrome corpus callosum, agenesis OF, with FACIAL anomalies and cerebellar ataxia severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome MONDO:0014788 Autosomal recessive limb-girdle muscular dystrophy type 2W is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration. https://github.com/monarch-initiative/mondo/issues/4521 LGMD2W LIMS2 autosomal recessive limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy caused by mutation in LIMS2 muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue muscular dystrophy, limb-girdle, type 2W muscular dystrophy, limb-girdle, type 2w autosomal recessive limb-girdle muscular dystrophy type 2W MONDO:0014789 CDG syndrome type IIo CDG-IIo CDG2O carbohydrate deficient glycoprotein syndrome type IIo congenital disorder of glycosylation type 2o congenital disorder of glycosylation type IIo congenital disorder of glycosylation, type IIo CDG IIo CCDC115-CDG MONDO:0014790 CDG syndrome type IIp CDG-IIp CDG2P carbohydrate deficient glycoprotein syndrome type IIp congenital disorder of glycosylation type 2p congenital disorder of glycosylation type IIp congenital disorder of glycosylation, type IIp CDG IIp TMEM199-CDG MONDO:0014791 https://github.com/monarch-initiative/mondo/issues/4948 LLs Luscan-Lumish syndrome Luscan-Lumish syndrome; LLs SETD2-related overgrowth syndrome Luscan-Lumish syndrome MONDO:0014792 PDB6 Paget disease of bone 6 Paget disease of bone 6; PDB6 Paget disease of bone type 6 Paget disease of bone 6 MONDO:0014793 https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/5682 MCCPD microcephaly, congenital cataract, and psoriasiform dermatitis smo deficiency sterol-C4-methyl oxidase deficiency Sc4Mol deficiency microcephaly-congenital cataract-psoriasiform dermatitis syndrome MONDO:0014794 Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the GMNN gene. https://github.com/monarch-initiative/mondo/issues/4948 GMNN Meier-Gorlin syndrome MGORS6 Meier-Gorlin syndrome 6 Meier-Gorlin syndrome caused by mutation in GMNN Meier-Gorlin syndrome type 6 Meier-GORLIN syndrome 6 Meier-Gorlin syndrome 6 MONDO:0014795 exercise intolerance, riboflavin-responsive RREI exercise intolerance, riboflavin-responsive MONDO:0014796 Any young-onset Parkinson disease in which the cause of the disease is a mutation in the VPS13C gene. https://github.com/monarch-initiative/mondo/issues/4521 PARK23 Parkinson disease 23, autosomal recessive early-onset Parkinson disease 23, autosomal recessive, early onset VPS13C young-onset Parkinson disease autosomal recessive early-onset Parkinson disease 23 autosomal recessive early-onset Parksinson disease type 23 young-onset Parkinson disease caused by mutation in VPS13C autosomal recessive early-onset Parkinson's disease 23 autosomal recessive early-onset Parkinson disease 23 MONDO:0014797 LMPH3 lymphedema, hereditary, III lymphedema, hereditary, type III generalized lymphatic dysplasia of Fotiou lymphedema, hereditary, 3 lymphatic malformation 6 MONDO:0014798 Any brachydactyly type A1 in which the cause of the disease is a mutation in the BMPR1B gene. BDA1D BMPR1B brachydactyly type A1 brachydactyly type A1 caused by mutation in BMPR1B brachydactyly, type A1, D brachydactyly type A1D MONDO:0014799 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the SIPA1L3 gene. CTRCT45 SIPA1L3 early-onset non-syndromic cataract cataract 45 cataract type 45 early-onset non-syndromic cataract caused by mutation in SIPA1L3 cataract 45 MONDO:0014800 myopathy, scapulohumeroperoneal SHPM progressive scapulohumeroperoneal distal myopathy MONDO:0014801 https://github.com/monarch-initiative/mondo/issues/4948 EVPLS epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome even-plus syndrome epiphyseal and vertebral dysplasia, microtia, and flat Nose, plus associated malformations even-plus syndrome MONDO:0014802 Any Cowden disease in which the cause of the disease is a mutation in the SEC23B gene. Cowden disease caused by mutation in SEC23B Cowden syndrome 7 Cowden syndrome type 7 SEC23B Cowden disease CWS7 Cowden syndrome 7 MONDO:0014803 SPAHGC childhood-onset spasticity with variant non-ketotic hyperglycinemia spasticity, childhood-onset, with hyperglycinemia childhood-onset spasticity with hyperglycinemia spasticity-ataxia-gait anomalies syndrome MONDO:0014804 GLRX5-related sideroblastic anemia SIDBA3 adult-onset autosomal recessive sideroblastic anemia anemia, sideroblastic, 3, pyridoxine-refractory sideroblastic anemia 3 MONDO:0014805 A neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development with significant speech delay, behavioral abnormalities, such as autism, and mild dysmorphic facies. Additional features are variable, but may include hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, and ocular anomalies, such as strabismus. Some patients develop seizures and some have mild white matter abnormalities on brain imaging. The cause of the disease is a mutation in the USP7 gene. https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/3680 https://github.com/monarch-initiative/mondo/issues/5588 16p13.2 microdeletion syndrome Del(16)(p13.2) HAFOUS Hao-Fountain syndrome USP7-related neurodevelopmental disorder monosomy 16p13.2 chromosome 16P13.2 deletion syndrome chromosome 16p13.2 deletion syndrome Hao-Fountain syndrome MONDO:0014806 Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the TRIP4 gene. SMABF1 TRIP4 prenatal-onset spinal muscular atrophy with congenital bone fractures prenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in TRIP4 spinal muscular atrophy with congenital bone fractures 1 spinal muscular atrophy with congenital bone fractures type 1 spinal muscular atrophy, type I, with congenital bone fractures SMA1 with congenital bone fractures spinal muscular atrophy type 1 with congenital bone fractures spinal muscular atrophy with congenital bone fractures 1 MONDO:0014807 Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the ASCC1 gene. ASCC1 prenatal-onset spinal muscular atrophy with congenital bone fractures SMABF2 prenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in ASCC1 spinal muscular atrophy with congenital bone fractures 2 spinal muscular atrophy with congenital bone fractures type 2 spinal muscular atrophy with congenital bone fractures 2 MONDO:0014808 Any secretory diarrhea in which the cause of the disease is a mutation in the SLC9A3 gene. DIAR8 SLC9A3 secretory diarrhea congenital secretory sodium diarrhea type 8 diarrhea 8, secretory sodium, congenital secretory diarrhea caused by mutation in SLC9A3 diarrhea, congenital sodium congenital secretory sodium diarrhea 8 MONDO:0014809 Any hereditary neoplastic syndrome in which the cause of the disease is a mutation in the DDX41 gene. DDX41 hereditary neoplastic syndrome DDX41-related hematologic malignancy predisposition syndrome MPLPF hereditary neoplastic syndrome caused by mutation in DDX41 myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to susceptibility to familial (multiple types) myeloproliferative/lymphoproliferative neoplasms DDX41-related hematologic malignancy predisposition syndrome MONDO:0014810 Any syndrome with combined immunodeficiency in which the cause of the disease is a mutation in the IKZF1 gene. CVID13 Cid due to IKAROS deficiency IKZF1 syndrome with combined immunodeficiency combined immunodeficiency due to IKAROS deficiency immunodeficiency, common variable, 13 immunodeficiency, common variable, type 13 syndrome with combined immunodeficiency caused by mutation in IKZF1 pancytopenia due to IKZF1 mutations MONDO:0014811 CAVIPMR cerebellar atrophy, visual impairment, and psychomotor retardation cerebellar atrophy, visual impairment, and psychomotor retardation; MONDO:0014813 Any leukodystrophy in which the cause of the disease is a mutation in the HIKESHI gene. HIKESHI leukodystrophy HLD13 hikeshi leukodystrophy hypomyelinating leukodystrophy type 13 leukodystrophy caused by mutation in HIKESHI leukodystrophy caused by mutation in hikeshi leukodystrophy, hypomyelinating, 13 leukodystrophy, hypomyelinating, type 13 hypomyelinating leukodystrophy 13 MONDO:0014814 Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER3 gene. FASPS3 PER3 advanced sleep phase syndrome advanced sleep phase syndrome caused by mutation in PER3 advanced sleep phase syndrome type 3 advanced sleep phase syndrome, familial, 3 advanced sleep phase syndrome, familial, type 3 familial advanced sleep phase syndrome 3 advanced sleep phase syndrome 3 MONDO:0014815 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LMAN2L gene. https://github.com/monarch-initiative/mondo/issues/4521 LMAN2L autosomal recessive non-syndromic intellectual disability MRT52 autosomal recessive non-syndromic intellectual disability caused by mutation in LMAN2L intellectual developmental disorder, autosomal recessive 52 intellectual disability, autosomal recessive 52 intellectual disability, autosomal recessive type 52 mental retardation, autosomal recessive 52 mental retardation, autosomal recessive type 52 intellectual disability, autosomal recessive 52 MONDO:0014816 https://github.com/monarch-initiative/mondo/issues/4948 SFMMP split-foot malformation with mesoaxial polydactyly split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome split-foot malformation-mesoaxial polydactyly syndrome MONDO:0014817 Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP93 gene. NPHS12 NUP93 familial nephrotic syndrome familial nephrotic syndrome caused by mutation in NUP93 nephrotic syndrome, type 12 nephrotic syndrome, type 12; NPHS12 nephrotic syndrome, type 12 MONDO:0014818 Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP205 gene. NPHS13 NUP205 familial nephrotic syndrome familial nephrotic syndrome caused by mutation in NUP205 nephrotic syndrome, type 13 nephrotic syndrome, type 13; NPHS13 nephrotic syndrome, type 13 MONDO:0014819 Any Robinow syndrome in which the cause of the disease is a mutation in the DVL3 gene. https://github.com/monarch-initiative/mondo/issues/4948 DRS3 DVL3 Robinow syndrome Robinow syndrome caused by mutation in DVL3 Robinow syndrome, autosomal dominant 3 Robinow syndrome, autosomal dominant type 3 autosomal dominant Robinow syndrome type 3 autosomal dominant Robinow syndrome 3 MONDO:0014820 Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the OPA1 gene. https://github.com/monarch-initiative/mondo/issues/4521 MTDPS14 OPA1 mitochondrial DNA depletion syndrome mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type); MTDPS14 mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) mitochondrial DNA depletion syndrome caused by mutation in OPA1 mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) MONDO:0014821 Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type OCLSBG osteochondrodysplasia, COMPLEX lethal, Symoens-Barnes-Gistelinck type osteochondrodysplasia, Complex lethal, Symoens-Barnes-Gistelinck type complex lethal osteochondrodysplasia MONDO:0014822 15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism. https://github.com/monarch-initiative/mondo/issues/3664 Del(15)(q14) monosomy 15q14 chromosome 15q14 deletion syndrome 15q14 microdeletion syndrome MONDO:0014823 A rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (incl. loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (incl. plagio/brachicephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features. https://github.com/monarch-initiative/mondo/issues/5588 IHPRF3 TBCK-related intellectual disability syndrome hypotonia, infantile, with psychomotor retardation and characteristic facies 3 hypotonia, infantile, with psychomotor retardation and characteristic facies type 3 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 MONDO:0014825 https://github.com/monarch-initiative/mondo/issues/3664 chromosome 11p13 deletion syndrome, distal MONDO:0014827 Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration. CAPN1 autosomal recessive complex spastic paraplegia SPG76 autosomal recessive complex spastic paraplegia caused by mutation in CAPN1 autosomal recessive spastic paraplegia 76 hereditary spastic paraplegia type 76 spastic paraplegia 76, autosomal recessive hereditary spastic paraplegia 76 autosomal recessive spastic paraplegia type 76 MONDO:0014828 Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the CDCA7 gene. CDCA7 immunodeficiency-centromeric instability-facial anomalies syndrome ICF syndrome 3 immunodeficiency-centromeric instability-Facial anomalies syndrome 3 immunodeficiency-centromeric instability-Facial anomalies syndrome type 3 immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in CDCA7 immunodeficiency-centromeric instability-facial anomalies syndrome type 3 ICF3 immunodeficiency-centromeric instability-FACIAL anomalies syndrome 3 immunodeficiency-centromeric instability-facial anomalies syndrome 3 MONDO:0014829 Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the HELLS gene. HELLS immunodeficiency-centromeric instability-facial anomalies syndrome ICF syndrome 4 immunodeficiency-centromeric instability-Facial anomalies syndrome 4 immunodeficiency-centromeric instability-Facial anomalies syndrome type 4 immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in HELLS immunodeficiency-centromeric instability-facial anomalies syndrome type 4 ICF4 immunodeficiency-centromeric instability-FACIAL anomalies syndrome 4 immunodeficiency-centromeric instability-facial anomalies syndrome 4 MONDO:0014830 Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the SLFN14 gene. BDPLT20 SLFN14 inherited bleeding disorder, platelet-type autosomal dominant thrombocytopenia with platelet secretion defect bleeding disorder, platelet-type, 20 inherited bleeding disorder, platelet-type caused by mutation in SLFN14 platelet-type bleeding disorder 20 MONDO:0014831 Marfan lipodystrophy syndrome MFLS Marfan-progeroid-lipodystrophy syndrome Marfanoid-progeroid syndrome progeroid and marfanoid aspect-lipodystrophy syndrome MONDO:0014832 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 GPIBD13 MRT53 PIGG-CDG congenital disorder of glycosylation due to PIGG deficiency early-onset epilepsy-intellectual disability-brain anomalies syndrome glycosylphosphatidylinositol biosynthesis defect 13 intellectual developmental disorder, autosomal recessive 53 intellectual disability, autosomal recessive 53 intellectual disability, autosomal recessive type 53 mental retardation, autosomal recessive 53 mental retardation, autosomal recessive type 53 intellectual disability, autosomal recessive 53 MONDO:0014833 HBMS heart and brain malformation syndrome heart and brain malformation syndrome; HBMS heart and brain malformation syndrome MONDO:0014834 https://github.com/monarch-initiative/mondo/issues/5761 2023-04-01 IOLOD dyskinesia, limb and orofacial, infantile-onset dyskinesia, limb and orofacial, infantile-onset; IOLOD Reason: duplicate. This will be merged with MONDO:0044637 infantile-onset generalized dyskinesia with orofacial involvement dyskinesia, limb and orofacial, infantile-onset MONDO:0014835 Any striatal degeneration, autosomal dominant in which the cause of the disease is a mutation in the PDE10A gene. https://github.com/monarch-initiative/mondo/issues/4521 striatal degeneration, autosomal dominant ADSD2 PDE10A striatal degeneration, autosomal dominant striatal Degeneration, autosomal dominant 2 striatal Degeneration, autosomal dominant type 2 striatal degeneration, autosomal dominant 2; ADSD2 striatal degeneration, autosomal dominant caused by mutation in PDE10A striatal degeneration, autosomal dominant 2 MONDO:0014836 Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NEFH gene. CMT2CC Charcot-Marie-Tooth disease axonal type 2CC Charcot-Marie-Tooth disease caused by mutation in NEFH Charcot-Marie-Tooth disease, axonal, type 2cc Charcot-Marie-Tooth neuropathy type 2CC NEFH Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease, axonal, type 2CC Charcot-Marie-Tooth neuropathy, type 2Cc Charcot-Marie-Tooth disease axonal type 2CC MONDO:0014837 hereditary thrombocytopenia with early-onset myelofibrosis thrombocytopenia 6 thrombocytopenia type 6 THC6 thrombocytopenia, autosomal dominant, 6 thrombocytopenia 6 MONDO:0014838 Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCE1 gene. https://github.com/monarch-initiative/mondo/issues/3939 https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5588 Coffin-Siris syndrome 5 Coffin-Siris syndrome caused by mutation in SMARCE1 Coffin-Siris syndrome type 5 SMARCE1 Coffin-Siris syndrome COFFIN-SIRIS syndrome 5 CSS5 Coffin-Siris syndrome 5 MONDO:0014839 COCPMR chorea, childhood-onset, with psychomotor retardation chorea, childhood-onset, with psychomotor retardation; COCPMR chorea, childhood-onset, with psychomotor retardation MONDO:0014840 Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the TCF3 gene. AGM8 TCF3 autosomal agammaglobulinemia agammaglobulinemia 8, autosomal dominant agammaglobulinemia 8, autosomal dominant; AGM8 autosomal agammaglobulinemia caused by mutation in TCF3 agammaglobulinemia, autosomal dominant, due to TCF3 defect agammaglobulinemia 8, autosomal dominant MONDO:0014841 Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the GTF2E2 gene. GTF2E2 nonphotosensitive trichothiodystrophy TTD6 nonphotosensitive trichothiodystrophy caused by mutation in GTF2E2 trichothiodystrophy 6, nonphotosensitive trichothiodystrophy 6, nonphotosensitive; TTD6 trichothiodystrophy 6, nonphotosensitive MONDO:0014842 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the TBL1XR1 gene. MRD41 TBL1XR1 autosomal dominant non-syndromic intellectual disability autosomal dominant intellectual disability 41 autosomal dominant mental retardation 41 autosomal dominant non-syndromic intellectual disability caused by mutation in TBL1XR1 intellectual disability, autosomal dominant 41 intellectual disability, autosomal dominant type 41 mental retardation, autosomal dominant 41 mental retardation, autosomal dominant type 41 autosomal dominant non-syndromic intellectual disability 41 intellectual disability, autosomal dominant 41 MONDO:0014843 Any primary ovarian failure in which the cause of the disease is a mutation in the ERCC6 gene. ERCC6 primary ovarian failure POF11 premature ovarian failure 11 premature ovarian failure 11; POF11 premature ovarian failure type 11 primary ovarian failure caused by mutation in ERCC6 premature ovarian failure 11 MONDO:0014844 Any primary ovarian failure in which the cause of the disease is a mutation in the SYCE1 gene. POF12 SYCE1 primary ovarian failure premature ovarian failure 12 premature ovarian failure 12; POF12 premature ovarian failure type 12 primary ovarian failure caused by mutation in SYCE1 premature ovarian failure 12 MONDO:0014845 Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the VWA3B gene. SCAR22 VWA3B autosomal recessive cerebellar ataxia autosomal recessive cerebellar ataxia caused by mutation in VWA3B spinocerebellar ataxia, autosomal recessive 22 spinocerebellar ataxia, autosomal recessive 22; SCAR22 spinocerebellar ataxia, autosomal recessive type 22 spinocerebellar ataxia, autosomal recessive 22 MONDO:0014846 SCAR23 spinocerebellar ataxia autosomal recessive type 23 spinocerebellar ataxia, autosomal recessive 23 spinocerebellar ataxia, autosomal recessive type 23 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency MONDO:0014847 Any azoospermia in which the cause of the disease is a mutation in the SYCE1 gene. SPGF15 SYCE1 azoospermia azoospermia caused by mutation in SYCE1 spermatogenic failure 15 spermatogenic failure 15; SPGF15 spermatogenic failure type 15 spermatogenic failure 15 MONDO:0014848 https://github.com/monarch-initiative/mondo/issues/5588 you-Hoover-Fong syndrome YHFS TELO2-related intellectual disability-neurodevelopmental disorder MONDO:0014850 RPEM retinitis pigmentosa and erythrocytic microcytosis retinitis pigmentosa and erythrocytic microcytosis; RPEM retinitis pigmentosa and erythrocytic microcytosis MONDO:0014851 Any hypercalcemia, infantile in which the cause of the disease is a mutation in the SLC34A1 gene. HCINF2 SLC34A1 autosomal recessive infantile hypercalcemia autosomal recessive infantile hypercalcemia caused by mutation in SLC34A1 hypercalcemia, infantile 2 hypercalcemia, infantile, 2 hypercalcemia, infantile, type 2 hypercalcemia, infantile, 2 MONDO:0014853 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MCM2 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA70 MCM2 autosomal dominant nonsyndromic deafness autosomal dominant deafness 70 autosomal dominant nonsyndromic deafness 70 autosomal dominant nonsyndromic deafness caused by mutation in MCM2 autosomal dominant nonsyndromic deafness type 70 deafness, autosomal dominant 70 deafness, autosomal dominant type 70 autosomal dominant nonsyndromic hearing loss 70 MONDO:0014854 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CD164 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 CD164 autosomal dominant nonsyndromic deafness DFNA66 autosomal dominant deafness 66 autosomal dominant nonsyndromic deafness 66 autosomal dominant nonsyndromic deafness caused by mutation in CD164 autosomal dominant nonsyndromic deafness type 66 deafness, autosomal dominant 66 deafness, autosomal dominant type 66 autosomal dominant nonsyndromic hearing loss 66 MONDO:0014855 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GNB1 gene. https://github.com/monarch-initiative/mondo/issues/4521 GNB1 autosomal dominant non-syndromic intellectual disability Gnb1 autosomal dominant non-syndromic intellectual disability MRD42 autosomal dominant intellectual disability 42 autosomal dominant mental retardation 42 autosomal dominant non-syndromic intellectual disability caused by mutation in GNB1 autosomal dominant non-syndromic intellectual disability caused by mutation in Gnb1 intellectual developmental disorder, autosomal dominant 42 intellectual disability, autosomal dominant 42 intellectual disability, autosomal dominant type 42 mental retardation, autosomal dominant 42 mental retardation, autosomal dominant type 42 autosomal dominant non-syndromic intellectual disability 42 Editor note: check status as syndromic intellectual disability, autosomal dominant 42 MONDO:0014856 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT10C gene. COXPD30 TRMT10C combined oxidative phosphorylation deficiency combined oxidative phosphorylation deficiency 30 combined oxidative phosphorylation deficiency caused by mutation in TRMT10C combined oxidative phosphorylation deficiency type 30 combined oxidative phosphorylation defect type 30 MONDO:0014857 https://github.com/monarch-initiative/mondo/issues/3680 NEDBEH neurodevelopmental disorder with or without anomalies of the brain, eye, or heart neurodevelopmental disorder with or without anomalies of the brain, eye, or heart; NEDBEH rere-related neurodevelopmental syndrome neurodevelopmental disorder with or without anomalies of the brain, eye, or heart MONDO:0014858 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the HIVEP2 gene. HIVEP2 autosomal dominant non-syndromic intellectual disability MRD43 autosomal dominant intellectual disability 43 autosomal dominant mental retardation 43 autosomal dominant non-syndromic intellectual disability caused by mutation in HIVEP2 intellectual disability, autosomal dominant 43 intellectual disability, autosomal dominant type 43 mental retardation, autosomal dominant 43 mental retardation, autosomal dominant type 43 HIVEP2-related intellectual disability autosomal dominant intellectual disability-43 autosomal dominant non-syndromic intellectual disability 43 intellectual disability, autosomal dominant 43 MONDO:0014859 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FRRS1L gene. https://github.com/monarch-initiative/mondo/issues/4521 DEE37 EIEE37 FRRS1L early infantile epileptic encephalopathy developmental and epileptic encephalopathy 37 early infantile epileptic encephalopathy caused by mutation in FRRS1L epileptic encephalopathy, early infantile, 37 epileptic encephalopathy, early infantile, 37; EIEE37 epileptic encephalopathy, early infantile, type 37 developmental and epileptic encephalopathy, 37 MONDO:0014860 Any polycystic kidney disease in which the cause of the disease is a mutation in the SEC63 gene. PCLD2 polycystic liver disease 2 polycystic liver disease 2; PCLD2 polycystic liver disease type 2 polycystic liver disease 2 with or without kidney cysts polycystic liver disease 2 MONDO:0014861 Any autoimmune disease, multisystem, infantile-onset in which the cause of the disease is a mutation in the ZAP70 gene. ADMIO2 ZAP70 autoimmune disease, multisystem, infantile-onset autoimmune disease, multisystem, infantile-onset caused by mutation in ZAP70 autoimmune disease, multisystem, infantile-onset, 2 autoimmune disease, multisystem, infantile-onset, 2; ADMIO2 autoimmune disease, multisystem, infantile-onset, type 2 autoimmune disease, multisystem, infantile-onset, 2 MONDO:0014862 Any spastic quadriplegia in which the cause of the disease is a mutation in the ADD3 gene. ADD3 spastic quadriplegia CPSQ3 cerebral palsy, spastic quadriplegic, 3 cerebral palsy, spastic quadriplegic, 3; CPSQ3 cerebral palsy, spastic quadriplegic, type 3 spastic quadriplegia caused by mutation in ADD3 cerebral palsy, spastic quadriplegic, 3 MONDO:0014863 MDFPMR macrocephaly, dysmorphic facies, and psychomotor retardation macrocephaly, dysmorphic facies, and psychomotor retardation; MDFPMR macrocephaly, dysmorphic facies, and psychomotor retardation MONDO:0014864 Any hypermanganesemia with dystonia in which the cause of the disease is a mutation in the SLC39A14 gene. HMNDYT2 SLC39A14 hypermanganesemia with dystonia hypermanganesemia with dystonia 2 hypermanganesemia with dystonia 2; HMNDYT2 hypermanganesemia with dystonia caused by mutation in SLC39A14 hypermanganesemia with dystonia type 2 hypermanganesemia with dystonia 2 MONDO:0014865 neutropenia, Severe congenital, 7, autosomal recessive SCN7 neutropenia, severe congenital, 7, autosomal recessive autosomal recessive severe congenital neutropenia due to CSF3R deficiency MONDO:0014866 A Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25. CMT2T Charcot-Marie-Tooth disease, axonal, type 2T Charcot-Marie-Tooth neuropathy type 2T DNAJB2-related CMT2 AR-CMT2T Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2T Charcot-Marie-Tooth neuropathy, type 2T DNAJB2-related Charcot-Marie-Tooth disease type 2 autosomal recessive axonal Charcot-Marie-Tooth disease type 2T Charcot-Marie-Tooth disease axonal type 2T MONDO:0014867 Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor. MME autosomal dominant cerebellar ataxia SCA43 autosomal dominant cerebellar ataxia caused by mutation in MME spinocerebellar ataxia 43 spinocerebellar ataxia 43; SCA43 spinocerebellar ataxia type 43 spinocerebellar ataxia 43 MONDO:0014868 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARV1 gene. https://github.com/monarch-initiative/mondo/issues/4521 ARV1 early infantile epileptic encephalopathy DEE38 EIEE38 developmental and epileptic encephalopathy 38 early infantile epileptic encephalopathy caused by mutation in ARV1 epileptic encephalopathy, early infantile, 38 epileptic encephalopathy, early infantile, 38; EIEE38 epileptic encephalopathy, early infantile, type 38 developmental and epileptic encephalopathy, 38 MONDO:0014869 HLASA hydrops, lactic acidosis, and sideroblastic anemia hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome MONDO:0014870 NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated. LCCS10 lethal congenital contracture syndrome 10 lethal congenital contracture syndrome type 10 lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome NEK9-related lethal skeletal dysplasia MONDO:0014871 Any retinitis pigmentosa in which the cause of the disease is a mutation in the AGBL5 gene. AGBL5 retinitis pigmentosa RP75 retinitis pigmentosa 75 retinitis pigmentosa caused by mutation in AGBL5 retinitis pigmentosa type 75 retinitis pigmentosa 75 MONDO:0014872 Any congenital stationary night blindness in which the cause of the disease is a mutation in the GNB3 gene. CSNB1H GNB3 congenital stationary night blindness congenital stationary night blindness caused by mutation in GNB3 congenital stationary night blindness type 1H night blindness, congenital stationary, type 1H congenital stationary night blindness 1H MONDO:0014873 A rare developmental skin condition consisting of abnormal pilosebaceous follicle development. It is characterized by linear or band-like distributions of groups of comedones, usually on the face, neck, upper arm, chest, and abdomen, that appear at birth or in childhood. https://github.com/monarch-initiative/mondo/issues/4521 Nevus comedonicus acne Nevus acneiform Nevus comedo Nevus nevus comedonicus, somatic pilosebaceous nevoid disorder NC NEVUS comedonicus nevus comedonicus syndrome MONDO:0014874 Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN15 gene. PCH2F TSEN15 non-syndromic pontocerebellar hypoplasia non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN15 pontocerebellar hypoplasia, type 2F pontocerebellar hypoplasia, type 2F; PCH2F pontocerebellar hypoplasia, type 2F MONDO:0014875 HALD4 hyperaldosteronism, familial, type IV hyperaldosteronism, familial, type IV; HALD4 FH 4 aldosteronism, primary, and hypertension hyperaldosteronism, familial, type 4 hyperaldosteronism, familial, type IV MONDO:0014876 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TNIK gene. https://github.com/monarch-initiative/mondo/issues/4521 MRT54 TNIK autosomal recessive non-syndromic intellectual disability autosomal recessive non-syndromic intellectual disability caused by mutation in TNIK intellectual developmental disorder 54 intellectual disability, autosomal recessive 54 intellectual disability, autosomal recessive type 54 mental retardation, autosomal recessive 54 mental retardation, autosomal recessive type 54 intellectual disability, autosomal recessive 54 MONDO:0014877 Any distal myopathy in which the cause of the disease is a mutation in the ADSSL1 gene. ADSSL1 distal myopathy MPD5 distal myopathy caused by mutation in ADSSL1 myopathy, distal, 5 myopathy, distal, 5; MPD5 myopathy, distal, type 5 myopathy, distal, 5 MONDO:0014878 PDA2 patent ductus arteriosus 2 patent ductus arteriosus 2; PDA2 patent ductus arteriosus type 2 patent ductus arteriosus 2 MONDO:0014880 Duane syndrome type 3 is a disorder of eye movement.The affected eye, or eyes, has limited ability to move both inward toward the nose and outward toward the ears. The eye opening narrows and the eyeball pulls in when looking inward toward the nose. About 15 percent of all cases of Duane syndrome are type 3. Most cases occur without other signs and symptoms.In most people with Duane syndrome type 3, the cause is unknown; but it can sometimes be caused by mutations in the CHN1 gene and inherited in an autosomal dominant fashion. DURS3 Duane retraction syndrome 3 with or without deafness Duane retraction syndrome caused by mutation in MAFB MAFB Duane retraction syndrome Duane retraction syndrome 3 Duane syndrome type 3 Duane retraction syndrome 3 with or without deafness https://rarediseases.info.nih.gov/diseases/10691/duane-syndrome-type-3 MONDO:0014881 https://github.com/monarch-initiative/mondo/issues/4985 https://github.com/monarch-initiative/mondo/issues/5588 TKT deficiency short stature-developmental delay-congenital heart defect syndrome SDDHD short stature, developmental delay, and congenital heart defects transketolase deficiency MONDO:0014882 Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated. FARS2 hereditary spastic paraplegia SPG77 autosomal recessive spastic paraplegia 77 hereditary spastic paraplegia caused by mutation in FARS2 hereditary spastic paraplegia type 77 spastic paraplegia 77, autosomal recessive autosomal recessive spastic paraplegia type 77 hereditary spastic paraplegia 77 MONDO:0014883 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the FLNC gene. https://github.com/monarch-initiative/mondo/issues/4521 CMH26 FLNC hypertrophic cardiomyopathy cardiomyopathy familial hypertrophic 26 cardiomyopathy, familial hypertrophic, 26 cardiomyopathy, familial hypertrophic, type 26 cardiomyopathy, familial restrictive 5 hypertrophic cardiomyopathy caused by mutation in FLNC hypertrophic cardiomyopathy type 26 cardiomyopathy, familial restrictive, 5 hypertrophic cardiomyopathy 26 MONDO:0014884 Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the NR1H4 gene. NR1H4 deficiency NR1H4 progressive familial intrahepatic cholestasis PFIC5 cholestasis, progressive familial intrahepatic, 5 cholestasis, progressive familial intrahepatic, 5; PFIC5 cholestasis, progressive familial intrahepatic, type 5 progressive familial intrahepatic cholestasis caused by mutation in NR1H4 cholestasis, progressive familial intrahepatic, 5 MONDO:0014885 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the AP3D1 gene. AP3D1 Hermansky-Pudlak syndrome HPS10 Hermansky-Pudlak syndrome 10 Hermansky-Pudlak syndrome 10; HPS10 Hermansky-Pudlak syndrome caused by mutation in AP3D1 Hermansky-Pudlak syndrome type 10 Hermansky-Pudlak syndrome 10 MONDO:0014886 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 MRT55 intellectual disability, autosomal recessive 55 intellectual disability, autosomal recessive type 55 mental retardation, autosomal recessive 55 mental retardation, autosomal recessive type 55 neurodevelopmental disorder with microcephaly and gray sclerae severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome MONDO:0014887 Any bone marrow failure syndrome in which the cause of the disease is a mutation in the DNAJC21 gene. BMFS3 DNAJC21 bone marrow failure syndrome bone marrow failure syndrome 3 bone marrow failure syndrome caused by mutation in DNAJC21 bone marrow failure syndrome type 3 bone marrow failure syndrome 3 MONDO:0014888 An autosomal dominant condition caused by mutation(s) in the SAMD9 gene, encoding sterile alpha motif domain-containing protein 9A. It is a syndromic condition comprising myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital abnormalities, and enteropathy. mirage mirage syndrome myelodysplasia, infection, restriction of Growth, adrenal Hypoplasia, genital phenotypes, and enteropathy myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome MIRAGE syndrome MONDO:0014889 Lenk-Ploski syndrome SNDC childhood-onset basal ganglia degeneration syndrome striatonigral Degeneration, childhood-onset striatonigral degeneration, childhood-onset; SNDC striatonigral degeneration, childhood-onset MONDO:0014890 Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the KLHL7 gene. CISS3 KLHL7 cold-induced sweating syndrome KLHL7-related bohring-opitz-like/cold-induced sweating-like overlap syndrome PERCHING Postural and Palatal abnormalities; Exophthalmos and Enteral-tube dependency/feeding issues; Respiratory distress and Retinitis pigmentosa; Contractures and Camptodactyly; Hypertelorism and Hirsutism; Intrauterine growth retardation (IUGR)/growth failure and Intellectual disability/developmental delay; Nevus flammeus and Neurologic malformations;and facial Gestalt/grimacing and Genitourinary abnormalities cold-induced sweating syndrome 3 cold-induced sweating syndrome caused by mutation in KLHL7 cold-induced sweating syndrome type 3 CRISPONI/cold-induced sweating syndrome 3 Crisponi/cold-induced sweating syndrome 3 PERCHING syndrome MONDO:0014891 Any familial juvenile hyperuricemic nephropathy in which the cause of the disease is a mutation in the SEC61A1 gene. https://github.com/monarch-initiative/mondo/issues/4521 ADTKD-SEC61A1 HNFJ4 SEC61A1 familial juvenile hyperuricemic nephropathy SEC61A1-related autosomal dominant tubulointerstitial kidney disease familial juvenile hyperuricemic nephropathy caused by mutation in SEC61A1 hyperuricemic nephropathy, familial juvenile, 4 hyperuricemic nephropathy, familial juvenile, type 4 tubulointerstitial kidney disease, autosomal dominant, 5 hyperuricemic NEPHROPATHY, familial juvenile, 4 hyperuricemic nephropathy, familial juvenile type 4 MONDO:0014892 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 MEBAS MRD44 autosomal dominant intellectual disability 44 autosomal dominant mental retardation 44 intellectual developmental disorder, autosomal dominant 44, with microcephaly mercer-Ba syndrome autosomal dominant non-syndromic intellectual disability 44 intellectual disability, autosomal dominant 44 mental retardation, autosomal dominant 44 micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome MONDO:0014893 https://github.com/monarch-initiative/mondo/issues/3680 OCNDS Okur-Chung neurodevelopmental syndrome Okur-Chung neurodevelopmental syndrome; OCNDS Okur-Chung neurodevelopmental syndrome MONDO:0014894 Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC45 gene. https://github.com/monarch-initiative/mondo/issues/4948 CDC45 Meier-Gorlin syndrome MGORS7 Meier-Gorlin syndrome 7 Meier-Gorlin syndrome 7; MGORS7 Meier-Gorlin syndrome caused by mutation in CDC45 Meier-Gorlin syndrome type 7 Meier-Gorlin syndrome 7 MONDO:0014895 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GUF1 gene. https://github.com/monarch-initiative/mondo/issues/4521 DEE40 EIEE40 GUF1 early infantile epileptic encephalopathy developmental and epileptic encephalopathy 40 early infantile epileptic encephalopathy caused by mutation in GUF1 epileptic encephalopathy, early infantile, 40 epileptic encephalopathy, early infantile, 40; EIEE40 epileptic encephalopathy, early infantile, type 40 developmental and epileptic encephalopathy, 40 MONDO:0014896 https://github.com/monarch-initiative/mondo/issues/4069 MDCDC congenital muscular dystrophy, Davignon-Chauveau type muscular dystrophy, congenital, Davignon-Chauveau type congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome MONDO:0014898 Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the TK2 gene. PEOB3 TK2 autosomal recessive progressive external ophthalmoplegia autosomal recessive progressive external ophthalmoplegia caused by mutation in TK2 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3; PEOB3 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 3 progressive external ophthalmoplegia, autosomal recessive 3 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 MONDO:0014899 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency is an extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism. PEOB4 adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 4 progressive external ophthalmoplegia, autosomal recessive 4 adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency MONDO:0014900 Autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y) is a form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy. https://github.com/monarch-initiative/mondo/issues/4521 LGMD2Y TOR1AIP1 autosomal recessive limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy caused by mutation in TOR1AIP1 autosomal recessive muscular dystrophy due to LAP1B deficiency autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency muscular dystrophy with progressive weakness, distal contractures and rigid spine muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures muscular dystrophy, limb-girdle, type 2Y muscular dystrophy, limb-girdle, type 2y autosomal recessive limb-girdle muscular dystrophy type 2Y MONDO:0014901 Any tooth agenesis in which the cause of the disease is a mutation in the WNT10B gene. STHAG8 WNT10B tooth agenesis tooth agenesis caused by mutation in WNT10B tooth agenesis, selective, 8 tooth agenesis, selective, 8; STHAG8 tooth agenesis, selective, type 8 tooth agenesis, selective, 8 MONDO:0014902 Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the MST1R gene. MST1R nasopharyngeal carcinoma NPCA3 nasopharyngeal carcinoma caused by mutation in MST1R nasopharyngeal carcinoma, susceptibility to, 3 nasopharyngeal carcinoma, susceptibility to, 3; NPCA3 nasopharyngeal carcinoma, susceptibility to, type 3 susceptibility to nasopharyngeal carcinoma 3 nasopharyngeal carcinoma, susceptibility to, 3 MONDO:0014903 Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN8A gene. BFIS5 SCN8A benign familial infantile epilepsy benign familial infantile epilepsy caused by mutation in SCN8A seizures, benign familial infantile, 5 seizures, benign familial infantile, 5; BFIS5 seizures, benign familial infantile, type 5 convulsions, benign familial infantile, 5 seizures, benign familial infantile, 5 MONDO:0014904 https://github.com/monarch-initiative/mondo/issues/4521 CDG1AA congenital disorder of glycosylation, type 1aa congenital disorder of glycosylation, type IAA congenital disorder of glycosylation, type IAA; CDG1AA congenital disorder of glycosylation, type IAA MONDO:0014905 https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/5671 EMPF2 Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome MFF-associated encephalopathy due to peroxisomal and mitochondrial fission defect encephalopathy due to defective mitochondrial and peroxisomal fission 2 encephalopathy due to defective mitochondrial and peroxisomal fission type 2 encephalopathy due to defective mitochondrial and peroxisomal fission 2 MONDO:0014906 An autosomal recessive sub-type of Charcot-Marie-Tooth disease caused by compound heterozygous or homozygous mutation(s) in the MFN2 gene, encoding mitofusin-2. This condition is more severe and has an earlier onset as compared to Charcot-Marie-Tooth disease type 2A2A. https://github.com/monarch-initiative/mondo/issues/4521 Charcot-Marie-Tooth disease type 2A2B Charcot-Marie-Tooth disease, axonal, type 2A2B CMT2A2B Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; MONDO:0014907 SRTD15 short-rib thoracic dysplasia 15 with polydactyly short-rib thoracic dysplasia 15 with polydactyly; SRTD15 short-rib thoracic dysplasia 15 with polydactyly MONDO:0014908 Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CIT gene. CIT autosomal recessive primary microcephaly MCPH17 autosomal recessive primary microcephaly caused by mutation in CIT autosomal recessive primary microcephaly caused by mutation in cit cit autosomal recessive primary microcephaly microcephaly 17, primary, autosomal recessive microcephaly 17, primary, autosomal recessive; MCPH17 microcephaly 17, primary, autosomal recessive MONDO:0014909 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAJB13 gene. CILD34 DNAJB13 primary ciliary dyskinesia ciliary dyskinesia, primary, 34 ciliary dyskinesia, primary, type 34 primary ciliary dyskinesia 34 without situs inversus primary ciliary dyskinesia caused by mutation in DNAJB13 primary ciliary dyskinesia type 34 ciliary dyskinesia, primary, 34, without situs inversus primary ciliary dyskinesia 34 MONDO:0014910 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the TTC25 gene. CILD35 TTC25 primary ciliary dyskinesia ciliary dyskinesia, primary, 35 ciliary dyskinesia, primary, type 35 primary ciliary dyskinesia 35 with or without situs inversus primary ciliary dyskinesia caused by mutation in TTC25 primary ciliary dyskinesia type 35 ciliary dyskinesia, primary, 35, with or without situs inversus primary ciliary dyskinesia 35 MONDO:0014911 A rare, genetic, syndromic intellectual disability disease characterized by severe intrauterine and post-natal growth delay, moderate to severe intellectual disability, and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss. https://github.com/monarch-initiative/mondo/issues/4521 GRIDHH Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy growth retardation, impaired intellectual development, hypotonia, and hepatopathy growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy; GRIDHH growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy MONDO:0014912 AIPDS Autoinflammation, panniculitis, and dermatosis syndrome ORAS autoinflammation, panniculitis and dermatosis syndrome otulin deficiency otulin-related autoinflammatory syndrome otulipenia AUTOINFLAMMATION, panniculitis, and dermatosis syndrome infantile-onset periodic fever-panniculitis-dermatosis syndrome https://rarediseases.info.nih.gov/diseases/13198/otulipenia MONDO:0014914 Any BAFopathy in which the cause of the disease is a mutation in the BCL11A gene. https://github.com/monarch-initiative/mondo/issues/3939 BCL11A-related BAFopathy DILOS Dias-Logan syndrome Dias-Logan syndrome; DILOS BCL11A-related intellectual developmental disorder with persistence of fetal hemoglobin intellectual developmental disorder with hereditary persistence of fetal Hemoglobin intellectual developmental disorder with persistence of fetal HEMOGLOBIN intellectual developmental disorder with persistence of fetal Hemoglobin Dias-Logan syndrome MONDO:0014915 SRTD16 short-rib thoracic dysplasia 16 with or without polydactyly short-rib thoracic dysplasia 16 with or without polydactyly; SRTD16 short-rib thoracic dysplasia 16 with or without polydactyly MONDO:0014916 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC1A2 gene. https://github.com/monarch-initiative/mondo/issues/4521 DEE41 EIEE41 SLC1A2 early infantile epileptic encephalopathy developmental and epileptic encephalopathy 41 developmental and epileptic encephalopathy, 41 early infantile epileptic encephalopathy caused by mutation in SLC1A2 epileptic encephalopathy, early infantile, 41 epileptic encephalopathy, early infantile, 41; EIEE41 epileptic encephalopathy, early infantile, type 41 developmental and epileptic encephalopathy, 41 MONDO:0014917 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CACNA1A gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5753 CACNA1A early infantile epileptic encephalopathy DEE42 EIEE42 developmental and epileptic encephalopathy 42 early infantile epileptic encephalopathy caused by mutation in CACNA1A epileptic encephalopathy, early infantile, 42 epileptic encephalopathy, early infantile, 42; EIEE42 epileptic encephalopathy, early infantile, type 42 developmental and epileptic encephalopathy, 42 MONDO:0014918 https://github.com/monarch-initiative/mondo/issues/5588 TROFAS Thauvin-robinet-Faivre syndrome THAUVIN-robinet-Faivre syndrome tall stature-intellectual disability-renal anomalies syndrome MONDO:0014919 SSPCS sessile serrated polyposis cancer syndrome sessile serrated polyposis cancer syndrome; SSPCS sessile serrated polyposis cancer syndrome MONDO:0014920 Any patterned macular dystrophy in which the cause of the disease is a mutation in the MAPKAPK3 gene. MAPKAPK3 patterned macular dystrophy MCRPE MDPT3 Martinique crinkled retinal pigment epitheliopathy macular dystrophy, patterned, 3 macular dystrophy, patterned, type 3 patterned macular dystrophy caused by mutation in MAPKAPK3 patterned macular dystrophy type 3 patterned macular dystrophy 3 MONDO:0014921 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB3 gene. https://github.com/monarch-initiative/mondo/issues/4521 DEE43 EIEE43 GABRB3 early infantile epileptic encephalopathy developmental and epileptic encephalopathy 43 early infantile epileptic encephalopathy caused by mutation in GABRB3 epileptic encephalopathy, early infantile, 43 epileptic encephalopathy, early infantile, 43; EIEE43 epileptic encephalopathy, early infantile, type 43 developmental and epileptic encephalopathy, 43 MONDO:0014922 Any myofibrillar myopathy in which the cause of the disease is a mutation in the KY gene. KY myofibrillar myopathy (disease) alpha-b crystalin-related fatal infantile hypertonic myofibrillar myopathy myofibrillar myopathy (disease) caused by mutation in KY myopathy, myofibrillar, 7 myopathy, myofibrillar, type 7 MFM7 myofibrillar myopathy 7 MONDO:0014923 Any peeling skin syndrome in which the cause of the disease is a mutation in the SERPINB8 gene. PSS5 SERPINB8 peeling skin syndrome peeling skin syndrome 5 peeling skin syndrome 5; PSS5 peeling skin syndrome caused by mutation in SERPINB8 peeling skin syndrome type 5 peeling skin syndrome 5 MONDO:0014924 Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL2 gene. FFEVF2 NPRL2 epilepsy, familial focal, with variable foci epilepsy, familial focal, with variable foci 2 epilepsy, familial focal, with variable foci 2; FFEVF2 epilepsy, familial focal, with variable foci caused by mutation in NPRL2 epilepsy, familial focal, with variable foci type 2 epilepsy, familial focal, with variable foci 2 MONDO:0014925 Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL3 gene. FFEVF3 NPRL3 epilepsy, familial focal, with variable foci epilepsy, familial focal, with variable foci 3 epilepsy, familial focal, with variable foci 3; FFEVF3 epilepsy, familial focal, with variable foci caused by mutation in NPRL3 epilepsy, familial focal, with variable foci type 3 epilepsy, familial focal, with variable foci 3 MONDO:0014926 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT74 gene. Bardet-Biedl syndrome caused by mutation in IFT74 IFT74 Bardet-Biedl syndrome BBS20 Bardet-Biedl syndrome 20; BBS20 Bardet-Biedl syndrome type 20 Bardet-Biedl syndrome 22 MONDO:0014927 Any Joubert syndrome in which the cause of the disease is a mutation in the B9D1 gene. B9D1 Joubert syndrome JBTS27 Joubert syndrome 27 Joubert syndrome caused by mutation in B9D1 Joubert syndrome type 27 Joubert syndrome 27 MONDO:0014928 Any Joubert syndrome in which the cause of the disease is a mutation in the MKS1 gene. JBTS28 Joubert syndrome 28 Joubert syndrome caused by mutation in MKS1 Joubert syndrome type 28 MKS1 Joubert syndrome Joubert syndrome 28 MONDO:0014929 Any retinitis pigmentosa in which the cause of the disease is a mutation in the POMGNT1 gene. POMGNT1 retinitis pigmentosa RP76 retinitis pigmentosa 76 retinitis pigmentosa 76; RP76 retinitis pigmentosa caused by mutation in POMGNT1 retinitis pigmentosa type 76 retinitis pigmentosa 76 MONDO:0014930 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZC3H14 gene. https://github.com/monarch-initiative/mondo/issues/4521 MRT56 ZC3H14 autosomal recessive non-syndromic intellectual disability autosomal recessive non-syndromic intellectual disability caused by mutation in ZC3H14 intellectual developmental disorder, autosomal recessive 56 intellectual disability, autosomal recessive 56 intellectual disability, autosomal recessive type 56 mental retardation, autosomal recessive 56 mental retardation, autosomal recessive type 56 intellectual disability, autosomal recessive 56 MONDO:0014931 ALYUS Alazami-Yuan syndrome Alazami-Yuan syndrome; ALYUS Alazami-Yuan syndrome MONDO:0014932 OFD15 orofaciodigital syndrome XV orofaciodigital syndrome type XV Ofds 15 oral-Facial-digital syndrome, type 15 orofaciodigital syndrome 15 orofaciodigital syndrome XV MONDO:0014933 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the UBA5 gene. https://github.com/monarch-initiative/mondo/issues/4521 DEE44 EIEE44 UBA5 early infantile epileptic encephalopathy developmental and epileptic encephalopathy 44 early infantile epileptic encephalopathy caused by mutation in UBA5 epileptic encephalopathy, early infantile, 44 epileptic encephalopathy, early infantile, 44; EIEE44 epileptic encephalopathy, early infantile, type 44 developmental and epileptic encephalopathy, 44 MONDO:0014934 Any autosomal dominant cerebellar ataxia in which the cause of the disease is a mutation in the UBA5 gene. SCAR24 UBA5 autosomal dominant cerebellar ataxia autosomal dominant cerebellar ataxia caused by mutation in UBA5 spinocerebellar ataxia, autosomal recessive 24 spinocerebellar ataxia, autosomal recessive 24; SCAR24 spinocerebellar ataxia, autosomal recessive type 24 spinocerebellar ataxia, autosomal recessive 24 MONDO:0014935 Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the MAP3K7 gene. https://github.com/monarch-initiative/mondo/issues/4948 FMD2 Frontometaphyseal dysplasia 2 Frontometaphyseal dysplasia type 2 MAP3K7 frontometaphyseal dysplasia frontometaphyseal dysplasia 2; FMD2 frontometaphyseal dysplasia caused by mutation in MAP3K7 frontometaphyseal dysplasia 2 MONDO:0014936 https://github.com/monarch-initiative/mondo/issues/5588 TOKIMS Tokita-Kim syndrome ZTTK syndrome ZTTK multiple congenital anomalies-intellectual disability syndrome ZTTK multiple congenital anomalies-mental retardation syndrome ZTTKS Zhu-Tokita-Takenouchi-Kim syndrome brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome ZTTK syndrome MONDO:0014937 AN2 aniridia 2 aniridia 2; AN2 aniridia type 2 aniridia 2 MONDO:0014938 Any isolated aniridia in which the cause of the disease is a mutation in the TRIM44 gene. AN3 TRIM44 isolated aniridia aniridia 3 aniridia 3; AN3 aniridia type 3 isolated aniridia caused by mutation in TRIM44 aniridia 3 MONDO:0014939 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC5A7 gene. CMS20 SLC5A7 congenital myasthenic syndrome congenital myasthenic syndrome 20 presynaptic congenital myasthenic syndrome caused by mutation in SLC5A7 congenital myasthenic syndrome type 20 myasthenic syndrome, congenital, 20, presynaptic congenital myasthenic syndrome 20 MONDO:0014940 NADGP neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset; NADGP neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset MONDO:0014941 DAIPT arthrogryposis, distal, with impaired proprioception and touch arthrogryposis, distal, with impaired proprioception and touch; DAIPT arthrogryposis, distal, with impaired proprioception and touch MONDO:0014942 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB1 gene. https://github.com/monarch-initiative/mondo/issues/4521 DEE45 EIEE45 GABRB1 early infantile epileptic encephalopathy developmental and epileptic encephalopathy 45 early infantile epileptic encephalopathy caused by mutation in GABRB1 epileptic encephalopathy, early infantile, 45 epileptic encephalopathy, early infantile, 45; EIEE45 epileptic encephalopathy, early infantile, type 45 developmental and epileptic encephalopathy, 45 MONDO:0014943 Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the TFAM gene. TFAM mitochondrial DNA depletion syndrome mitochondrial DNA depletion syndrome caused by mutation in TFAM MTDPS15 mitochondrial DNA depletion syndrome 15 (hepatocerebral type) mitochondrial DNA depletion syndrome 15 (hepatocerebral type); MONDO:0014944 https://github.com/monarch-initiative/mondo/issues/5588 SBIDDS short stature, brachydactyly, intellectual developmental disability, and seizures short stature-brachydactyly-obesity-global developmental delay syndrome MONDO:0014945 DMRV myopathy, distal, with rimmed vacuoles myopathy, distal, with rimmed vacuoles; DMRV myopathy, distal, with rimmed vacuoles MONDO:0014946 SIHIWES Sifrim-Hitz-Weiss syndrome Sifrim-Hitz-Weiss syndrome; SIHIWES Sifrim-Hitz-Weiss multiple congenital anomalies-intellectual disability syndrome Sifrim-Hitz-Weiss multiple congenital anomalies-mental retardation syndrome Sifrim-Hitz-Weiss syndrome MONDO:0014947 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2D gene. https://github.com/monarch-initiative/mondo/issues/4521 DEE46 EIEE46 GRIN2D early infantile epileptic encephalopathy developmental and epileptic encephalopathy 46 early infantile epileptic encephalopathy caused by mutation in GRIN2D epileptic encephalopathy, early infantile, 46 epileptic encephalopathy, early infantile, 46; EIEE46 epileptic encephalopathy, early infantile, type 46 developmental and epileptic encephalopathy, 46 MONDO:0014948 SRMMD short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay; SRMMD short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay MONDO:0014949 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FGF12 gene. https://github.com/monarch-initiative/mondo/issues/4521 DEE47 EIEE47 FGF12 early infantile epileptic encephalopathy developmental and epileptic encephalopathy 47 early infantile epileptic encephalopathy caused by mutation in FGF12 epileptic encephalopathy, early infantile, 47 epileptic encephalopathy, early infantile, 47; EIEE47 epileptic encephalopathy, early infantile, type 47 developmental and epileptic encephalopathy, 47 MONDO:0014950 Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the LOX gene. AAT10 LOX familial thoracic aortic aneurysm and aortic dissection aortic aneurysm, familial thoracic 10 aortic aneurysm, familial thoracic type 10 familial thoracic aortic aneurysm and aortic dissection caused by mutation in LOX aortic aneurysm, familial thoracic 10 MONDO:0014951 Any Sotos syndrome in which the cause of the disease is a mutation in the APC2 gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 APC2 Sotos syndrome SOTOS3 Sotos syndrome 3 Sotos syndrome caused by mutation in APC2 Sotos syndrome type 3 intellectual developmental disorder, autosomal recessive 74 Sotos syndrome 3 MONDO:0014952 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures DYSEIDD dyskinesia, seizures, and intellectual developmental disorder intellectual disability-epilepsy-extrapyramidal syndrome MONDO:0014953 IDDCA intellectual developmental disorder with cardiac arrhythmia intellectual developmental disorder with cardiac arrhythmia; IDDCA gnb5-related intellectual disability-cardiac arrhythmia syndrome MONDO:0014954 EDSPD2 Ehlers-Danlos syndrome, periodontal type, 2 Ehlers-Danlos syndrome, periodontal type 2 MONDO:0014955 https://github.com/monarch-initiative/mondo/issues/5116 RCBTB1-related retinopathy RDEOA retinal dystrophy with or without extraocular anomalies RCBTB1-related retinopathy describes a range of retinal phenotypes caused by bi-allelic variants in the RCBTB1 gene. While extra-ocular phenotypes in addition to retinopathy have been reported in some patients, no clear pattern has been observed. RCBTB1-related retinopathy MONDO:0014956 CHYTS Chitayat syndrome Chitayat syndrome; CHYTS Chitayat syndrome MONDO:0014957 https://github.com/monarch-initiative/mondo/issues/4521 LADCI language delay and ADHD/cognitive impairment with or without cardiac arrhythmia language delay and attention Deficit-hyperactivity disorder/cognitive impairment with or without Cardiac arrhythmia language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia; LADCI language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia MONDO:0014958 A syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. https://github.com/monarch-initiative/mondo/issues/4927 HAYOS Harel-Yoon syndrome Harel-Yoon syndrome; HAYOS optic atrophy-peripheral neuropathy-developmental delay syndrome Harel-Yoon syndrome MONDO:0014959 https://github.com/monarch-initiative/mondo/issues/4521 MTDPS12A mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant; MTDPS12A mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant MONDO:0014960 https://github.com/monarch-initiative/mondo/issues/5671 PEBEL encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy; PEBEL encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy MONDO:0014961 Any azoospermia in which the cause of the disease is a mutation in the SUN5 gene. SPGF16 SUN5 azoospermia azoospermia caused by mutation in SUN5 spermatogenic failure 16 spermatogenic failure 16; SPGF16 spermatogenic failure type 16 acephalic spermatozoa syndrome spermatogenic failure 16 MONDO:0014962 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MBOAT7 gene. https://github.com/monarch-initiative/mondo/issues/4521 MBOAT7 autosomal recessive non-syndromic intellectual disability MRT57 autosomal recessive non-syndromic intellectual disability caused by mutation in MBOAT7 intellectual developmental disorder, autosomal recessive 57 intellectual disability, autosomal recessive 57 intellectual disability, autosomal recessive type 57 mental retardation, autosomal recessive 57 mental retardation, autosomal recessive type 57 intellectual disability, autosomal recessive 57 MONDO:0014963 SHAPNS Shashi-Pena syndrome Shashi-Pena syndrome; SHAPNS Shashi-Pena syndrome MONDO:0014965 Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the GLDN gene. https://github.com/monarch-initiative/mondo/issues/4069 GLDN lethal congenital contracture syndrome LCCS11 lethal congenital contracture syndrome 11 lethal congenital contracture syndrome 11; LCCS11 lethal congenital contracture syndrome caused by mutation in GLDN lethal congenital contracture syndrome type 11 lethal congenital contracture arthrogryposis-11 lethal congenital contracture syndrome 11 MONDO:0014966 Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the NEDD4L gene. NEDD4L periventricular nodular heterotopia PVNH7 periventricular nodular heterotopia 7 periventricular nodular heterotopia 7; PVNH7 periventricular nodular heterotopia caused by mutation in NEDD4L periventricular nodular heterotopia type 7 periventricular nodular heterotopia 7 MONDO:0014967 Any visceral heterotaxy in which the cause of the disease is a mutation in the PKD1L1 gene. HTX8 PKD1L1 visceral heterotaxy heterotaxy, visceral, 8, autosomal heterotaxy, visceral, 8, autosomal; HTX8 visceral heterotaxy caused by mutation in PKD1L1 heterotaxy, visceral, 8, autosomal MONDO:0014968 https://github.com/monarch-initiative/mondo/issues/5671 PEAMO encephalopathy, progressive, with amyotrophy and optic atrophy encephalopathy, progressive, with amyotrophy and optic atrophy; PEAMO encephalopathy, progressive, with amyotrophy and optic atrophy MONDO:0014969 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4985 SHPKD isolated SHPK deficiency sedoheptulokinase deficiency isolated sedoheptulokinase deficiency MONDO:0014970 Any azoospermia in which the cause of the disease is a mutation in the PLCZ1 gene. PLCZ1 azoospermia SPGF17 azoospermia caused by mutation in PLCZ1 spermatogenic failure 17 spermatogenic failure 17; SPGF17 spermatogenic failure type 17 Male infertility due to oocyte Activation failure spermatogenic failure 17 MONDO:0014971 AI2A6 amelogenesis imperfecta, hypomaturation type, IIa6 amelogenesis imperfecta, hypomaturation type, IIa6; AI2A6 amelogenesis imperfecta, hypomaturation type, IIa6 MONDO:0014972 Chromosome 19q13.11 deletion syndrome in which the proximal region was deleted. https://github.com/monarch-initiative/mondo/issues/3664 chromosome 19q13.11 deletion syndrome, proximal MONDO:0014973 SCFI sudden Cardiac failure, infantile sudden cardiac failure, infantile; SCFI sudden cardiac failure, infantile MONDO:0014974 SCFAI sudden Cardiac failure, alcohol-induced sudden cardiac failure, alcohol-induced; SCFAI sudden cardiac failure, alcohol-induced MONDO:0014975 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATP13A2 gene. ATP13A2 hereditary spastic paraplegia SPG78 hereditary spastic paraplegia caused by mutation in ATP13A2 spastic paraplegia 78, autosomal recessive spastic paraplegia 78, autosomal recessive; SPG78 autosomal recessive spastic paraplegia type 78 MONDO:0014976 Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis. COXPD31 MIPEP combined oxidative phosphorylation deficiency combined oxidative phosphorylation deficiency 31 combined oxidative phosphorylation deficiency caused by mutation in MIPEP combined oxidative phosphorylation deficiency type 31 lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome MONDO:0014977 An autosomal recessive condition caused by pathogenic variant(s) of the POGLUT1 gene, encoding protein O-glucosyltransferase 1. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking. A characteristic finding of “inside-to-outside” fatty degeneration on muscle imaging has been noted in patients. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4822 LGMD2Z POGLUT1 autosomal recessive limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy caused by mutation in POGLUT1 autosomal recessive limb-girdle muscular dystrophy type 2Z limb-girdle muscular dystrophy type 2Z muscular dystrophy, limb-girdle, autosomal recessive 21 muscular dystrophy, limb-girdle, type 2Z autosomal recessive limb-girdle muscular dystrophy type 2R1 MONDO:0014979 NEIMY myoclonus, intractable, neonatal myoclonus, intractable, neonatal; NEIMY myoclonus, intractable, neonatal MONDO:0014980 CRDHL cone-rod dystrophy and hearing loss cone-rod dystrophy and hearing loss; CRDHL cone-rod dystrophy and hearing loss MONDO:0014981 Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL11B gene. BCL11B primary immunodeficiency disease IMD49 immunodeficiency 49 immunodeficiency 49; IMD49 immunodeficiency type 49 primary immunodeficiency disease caused by mutation in BCL11B SCID, T cell-Negative, B cell-Positive, Nk cell-Positive, with intellectual disability, spasticity, and craniofacial abnormalities severe combined immunodeficiency, T cell-Negative, B cell-Positive, Nk cell-Positive, with intellectual disability, spasticity, and craniofacial abnormalities immunodeficiency 49 MONDO:0014982 Any myopia (disease) in which the cause of the disease is a mutation in the P4HA2 gene. MYP25 P4HA2 myopia (disease) myopia (disease) caused by mutation in P4HA2 myopia 25, autosomal dominant myopia 25, autosomal dominant; MYP25 myopia 25, autosomal dominant MONDO:0014983 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC18A3 gene. CMS21 SLC18A3 congenital myasthenic syndrome congenital myasthenic syndrome 21, presynaptic congenital myasthenic syndrome caused by mutation in SLC18A3 congenital myasthenic syndrome type 21 myasthenic syndrome, congenital, 21, presynaptic congenital myasthenic syndrome 21 MONDO:0014984 LICS lung disease, immunodeficiency, and chromosome breakage syndrome lung disease, immunodeficiency, and chromosome breakage syndrome; MONDO:0014985 Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene. FANCV Fanconi Anemia, complementation group V Fanconi Anemia, complementation group type V Fanconi anemia caused by mutation in MAD2L2 Fanconi anemia complementation group type V MAD2L2 Fanconi anemia Fanconi Anemia, complementation Group 5 Fanconi anemia, complementation GROUP V Fanconi anemia complementation group V MONDO:0014986 Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51 gene. FANCR Fanconi Anemia, complementation group R Fanconi Anemia, complementation group type R Fanconi anemia caused by mutation in RAD51 Fanconi anemia complementation group type R RAD51 Fanconi anemia Fanconi anemia, complementation GROUP R Fanconi anemia complementation group R MONDO:0014987 Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene. FANCU Fanconi Anemia, complementation group U Fanconi Anemia, complementation group type U Fanconi anemia caused by mutation in XRCC2 Fanconi anemia complementation group type U XRCC2 Fanconi anemia Fanconi anemia, complementation GROUP U Fanconi anemia complementation group U MONDO:0014989 Any uncombable hair syndrome in which the cause of the disease is a mutation in the TGM3 gene. TGM3 uncombable hair syndrome UHS2 uncombable hair syndrome 2 uncombable hair syndrome 2; UHS2 uncombable hair syndrome caused by mutation in TGM3 uncombable hair syndrome type 2 uncombable hair syndrome 2 MONDO:0014990 Any uncombable hair syndrome in which the cause of the disease is a mutation in the TCHH gene. TCHH uncombable hair syndrome UHS3 uncombable hair syndrome 3 uncombable hair syndrome 3; UHS3 uncombable hair syndrome caused by mutation in TCHH uncombable hair syndrome type 3 uncombable hair syndrome 3 MONDO:0014991 Any Seckel syndrome in which the cause of the disease is a mutation in the NSMCE2 gene. https://github.com/monarch-initiative/mondo/issues/4948 NSMCE2 Seckel syndrome SCKL10 Seckel syndrome 10 Seckel syndrome caused by mutation in NSMCE2 Seckel syndrome type 10 Seckel syndrome 10 MONDO:0014992 Any lissencephaly (disease) in which the cause of the disease is a mutation in the TMTC3 gene. LIS8 TMTC3 lissencephaly (disease) lissencephaly (disease) caused by mutation in TMTC3 lissencephaly 8 lissencephaly 8; LIS8 lissencephaly type 8 lissencephaly 8 MONDO:0014993 Any myofibrillar myopathy in which the cause of the disease is a mutation in the PYROXD1 gene. PYROXD1 myofibrillar myopathy (disease) myofibrillar myopathy (disease) caused by mutation in PYROXD1 myofibrillar myopathy 8 myopathy, myofibrillar, 8 myopathy, myofibrillar, type 8 MFM8 myofibrillar myopathy 8 MONDO:0014994 GDACCF global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies; GDACCF global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies MONDO:0014995 https://github.com/monarch-initiative/mondo/issues/3680 NDHSAL neurodevelopmental disorder with hypotonia, seizures, and absent language neurodevelopmental disorder with hypotonia, seizures, and absent language; NDHSAL neurodevelopmental disorder with hypotonia, seizures, and absent language MONDO:0014996 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ELP2 gene. https://github.com/monarch-initiative/mondo/issues/4521 ELP2 autosomal recessive non-syndromic intellectual disability MRT58 autosomal recessive non-syndromic intellectual disability caused by mutation in ELP2 intellectual developmental disorder, autosomal recessive 58 intellectual disability, autosomal recessive 58 intellectual disability, autosomal recessive type 58 mental retardation, autosomal recessive 58 mental retardation, autosomal recessive type 58 ELP2-related disorder autosomal recessive intellectual disability 58 intellectual disability, autosomal recessive 58 MONDO:0014997 Any nephronophthisis in which the cause of the disease is a mutation in the MAPKBP1 gene. MAPKBP1 nephronophthisis (disease) NPHP20 nephronophthisis (disease) caused by mutation in MAPKBP1 nephronophthisis 20 nephronophthisis type 20 nephronophthisis 20 MONDO:0014998 GLC3E glaucoma 3, primary congenital, E glaucoma 3, primary congenital, E; GLC3E glaucoma 3, primary congenital, type E glaucoma 3, primary congenital, E MONDO:0014999 Any tooth agenesis in which the cause of the disease is a mutation in the GREM2 gene. GREM2 tooth agenesis STHAG9 tooth agenesis caused by mutation in GREM2 tooth agenesis, selective, 9 tooth agenesis, selective, 9; STHAG9 tooth agenesis, selective, type 9 tooth agenesis, selective, 9 MONDO:0015000 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AP3B2 gene. https://github.com/monarch-initiative/mondo/issues/4521 AP3B2 early infantile epileptic encephalopathy DEE48 EIEE48 developmental and epileptic encephalopathy 48 early infantile epileptic encephalopathy caused by mutation in AP3B2 epileptic encephalopathy, early infantile, 48 epileptic encephalopathy, early infantile, 48; EIEE48 epileptic encephalopathy, early infantile, type 48 developmental and epileptic encephalopathy, 48 MONDO:0015001 Any familial atrial fibrillation in which the cause of the disease is a mutation in the MYL4 gene. ATFB18 MYL4 familial atrial fibrillation atrial fibrillation, familial, 18 atrial fibrillation, familial, 18; ATFB18 atrial fibrillation, familial, type 18 familial atrial fibrillation caused by mutation in MYL4 atrial fibrillation, familial, 18 MONDO:0015002 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DENND5A gene. https://github.com/monarch-initiative/mondo/issues/4521 DEE49 DENND5A early infantile epileptic encephalopathy EIEE49 developmental and epileptic encephalopathy 49 early infantile epileptic encephalopathy caused by mutation in DENND5A epileptic encephalopathy, early infantile, 49 epileptic encephalopathy, early infantile, 49; EIEE49 epileptic encephalopathy, early infantile, type 49 developmental and epileptic encephalopathy, 49 MONDO:0015003 DYTOABG dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities; DYTOABG dystonia 29, childhood-onset dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities MONDO:0015004 Any dystonic disorder in which the cause of the disease is a mutation in the KMT2B gene. DYT28 KMT2B dystonic disorder dystonia 28, childhood-onset dystonia 28, childhood-onset; DYT28 dystonic disorder caused by mutation in KMT2B dystonia 28, childhood-onset MONDO:0015005 EPVB6D epilepsy, early-onset, vitamin B6-dependent epilepsy, early-onset, vitamin B6-dependent; EPVB6D epilepsy, early-onset, vitamin B6-dependent MONDO:0015006 https://github.com/monarch-initiative/mondo/issues/4499 https://github.com/monarch-initiative/mondo/issues/4521 EBSSH epidermolysis bullosa simplex 6, generalized, with scarring and hair loss epidermolysis bullosa simplex, generalized, with scarring and hair loss epidermolysis bullosa simplex, generalized, with scarring and hair loss; EBSSH generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss epidermolysis bullosa simplex 6, generalized, with scarring and hair loss MONDO:0015007 SINO spastic paraplegia, intellectual disability, nystagmus, and obesity spastic paraplegia, intellectual disability, nystagmus, and obesity; MONDO:0015008 amelogenesis imperfecta, type 1J amelogenesis imperfecta, type Ij AI1J amelogenesis imperfecta, type 1J MONDO:0015009 HFASD hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to; HFASD lymphatic malformation 7 MONDO:0015010 Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE. atypical NKA atypical non-ketotic hyperglycinemia GLYCINE encephalopathy with normal serum GLYCINE Glycine encephalopathy with normal serum Glycine atypical glycine encephalopathy MONDO:0015011 Any autosomal recessive isolated optic atrophy in which the cause of the disease is a mutation in the YME1L1 gene. OPA11 YME1L1 autosomal recessive isolated optic atrophy autosomal recessive isolated optic atrophy caused by mutation in YME1L1 optic atrophy 11 optic atrophy type 11 optic atrophy 11 MONDO:0015012 https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5588 MPSPS mucopolysaccharidosis-like plus disease mucopolysaccharidosis-plus syndrome mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders MONDO:0015013 Any retinitis pigmentosa in which the cause of the disease is a mutation in the REEP6 gene. REEP6 retinitis pigmentosa retinitis pigmentosa 77 retinitis pigmentosa caused by mutation in REEP6 retinitis pigmentosa type 77 RP77 retinitis pigmentosa 77 MONDO:0015014 https://github.com/monarch-initiative/mondo/issues/4521 COMMAD COMMAD syndrome coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness; COMMAD coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness MONDO:0015015 Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ACOX2 gene. https://github.com/monarch-initiative/mondo/issues/4069 ACOX2 congenital bile acid synthesis defect CBAS6 bile acid synthesis defect, congenital, 6 bile acid synthesis defect, congenital, type 6 congenital bile acid synthesis defect caused by mutation in ACOX2 congenital bile acid synthesis defect type 6 congenital bile acid synthesis defect 6 MONDO:0015016 https://github.com/monarch-initiative/mondo/issues/4521 ASGD6 anterior segment dysgenesis 6 anterior segment dysgenesis 6, multiple subtypes anterior segment dysgenesis type 6 anterior segment dysgenesis 6 MONDO:0015017 Any anterior segment dysgenesis in which the cause of the disease is a mutation in the CPAMD8 gene. ASGD8 CPAMD8 anterior segment dysgenesis CPAMD8-related anterior segment dysgenesis anterior segment dysgenesis 8 anterior segment dysgenesis caused by mutation in CPAMD8 anterior segment dysgenesis type 8 anterior segment dysgenesis 8 MONDO:0015018 Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CASP14 gene. https://github.com/monarch-initiative/mondo/issues/4069 ARCI12 ichthyosis, congenital, autosomal recessive 12 ichthyosis, congenital, autosomal recessive 12; ARCI12 ichthyosis, congenital, autosomal recessive type 12 ichthyosis, congenital, autosomal recessive 12 MONDO:0015019 An an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. The disorder is associated with specific NOD2 variants. https://github.com/monarch-initiative/mondo/issues/4882 YAOS Yao syndrome OMIM reports there is evidence that susceptibility to Yao syndrome (YAOS) is conferred by variation in the NOD2 gene on chromosome 16q12. Yao syndrome MONDO:0015020 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the IMPA1 gene. IMPA1 autosomal recessive non-syndromic intellectual disability MRT59 autosomal recessive non-syndromic intellectual disability caused by mutation in IMPA1 intellectual disability, autosomal recessive 59 intellectual disability, autosomal recessive type 59 mental retardation, autosomal recessive 59 mental retardation, autosomal recessive type 59 intellectual disability, autosomal recessive 59 MONDO:0015021 HADDS hypotonia, ataxia, and delayed development syndrome hypotonia, ataxia, and delayed development syndrome; HADDS hypotonia, ataxia, and delayed development syndrome MONDO:0015022 IDDDFP intellectual developmental disorder with dysmorphic facies and ptosis intellectual developmental disorder with dysmorphic facies and ptosis; IDDDFP intellectual developmental disorder with dysmorphic facies and ptosis MONDO:0015023 Congenital myopathy caused by pathogenic mutations in MYPN that lead to a wide spectrum of phenotypes. Patients with mutations in this gene often experience muscle weakness, facial weakness, and sometimes cardiac and respiratory issues. Histological findings on skeletal muscle biopsy are variable with nemaline bodies and cap-like lesions. MYPN nemaline myopathy MYPN-related myopathy NEM11 nemaline myopathy 11 nemaline myopathy 11, autosomal recessive nemaline myopathy caused by mutation in MYPN nemaline myopathy type 11 MYPN-related myopathy MONDO:0015024 Any ectodermal dysplasia syndrome in which the cause of the disease is a mutation in the KDF1 gene. ECTD12 KDF1 ectodermal dysplasia syndrome ectodermal dysplasia 12, hypohidrotic/hair/Tooth/nail type ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type; ECTD12 ectodermal dysplasia syndrome caused by mutation in KDF1 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type MONDO:0015025 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the MDH2 gene. https://github.com/monarch-initiative/mondo/issues/4521 DEE51 EIEE51 MDH2 early infantile epileptic encephalopathy developmental and epileptic encephalopathy 51 early infantile epileptic encephalopathy caused by mutation in MDH2 epileptic encephalopathy, early infantile, 51 epileptic encephalopathy, early infantile, 51; EIEE51 epileptic encephalopathy, early infantile, type 51 developmental and epileptic encephalopathy, 51 MONDO:0015026 Any Coats plus syndrome in which the cause of the disease is a mutation in the STN1 gene. Coats plus syndrome caused by mutation in STN1 STN1 Coats plus syndrome cerebroretinal microangiopathy with calcifications and cysts 2 cerebroretinal microangiopathy with calcifications and cysts type 2 CRMCC2 cerebroretinal microangiopathy with calcifications and cysts 2 MONDO:0015027 A rare, autosomal dominant hereditary syndrome characterized by hypercalcemia, abnormally high levels of parathyroid hormone, and isolated hyperfunctioning parathyroid tumors. FIHP FIHPT familial isolated hyperparathyroidism familial isolated hyperparathyroidism MONDO:0015028 The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males. 48, XXYY syndrome 48,XXYY Klinefelter syndrome 48,XXYY variant of Klinefelter's syndrome XXYY syndrome 48,XXYY syndrome https://rarediseases.info.nih.gov/diseases/5677/48xxyy-syndrome MONDO:0015029 reticular perineurioma MONDO:0015030 sclerosing perineurioma MONDO:0015031 Extraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheet and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a well-circumscribed, rarely encapsulated mass, not associated with a recognizable nerve, most commonly arising in the dermis and subcutis of the extremities or trunk, or, rarely, in deep soft tissue or skin (e.g., in the stomach, kidney, pancreas, maxillary sinus, mandible, bronchial tree and the face). The clinical presentation depends on the localization. soft tissue perineurioma extraneural perineurioma MONDO:0015032 A WHO grade I perineurioma that arises within the endoneurium. It is characterized by the formation of pseudo-onion bulbs by the proliferating perineural cells. intraneural perineurioma intraneural perineurioma (WHO grade I) intraneural perineurioma https://rarediseases.info.nih.gov/diseases/10921/intraneural-perineurioma MONDO:0015033 Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA, a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia. ABetaE22Q amyloidosis HCHWA, Dutch type HCHWA-D cerebral amyloid angiopathy, APP-related, Dutch variant hereditary cerebral hemorrhage with amyloidosis, Dutch type ABeta amyloidosis, dutch type MONDO:0015034 Lissencephaly with cerebellar hypoplasia type A (LCHa) is a form of lissencephaly with cerebellar hypoplasia that encompasses classical lissencephaly with thickened cortical gray matter with either no discernable gradient, a gradient with posterior predominance, or a gradient with anterior predominance, and cerebellar vermis hypoplasia. lissencephaly with cerebellar hypoplasia type A MONDO:0015035 Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb. lissencephaly with cerebellar hypoplasia type B MONDO:0015036 Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death. lissencephaly with cerebellar hypoplasia type C MONDO:0015037 Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (at least B1 3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres. lissencephaly with cerebellar hypoplasia type D MONDO:0015038 Lissencephaly with cerebellar hypoplasia type E (LCHe) is a form of lissencephaly with cerebellar hypoplasia, characterized by an abrupt transition from agyria to gyral simplification, near the boundary between frontal and parietal cortex, microcephaly (B1 3 SD) and brainstem hypoplasia. lissencephaly with cerebellar hypoplasia type E MONDO:0015039 Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum. lissencephaly with cerebellar hypoplasia type F MONDO:0015040 A myelodysplastic syndrome defined by 5-9% blasts in the bone marrow, and <5% blasts in the blood. Approximately 25% of cases progress to an acute leukemia. (WHO) MDS-EB-1 RAEB-1 RAEB-I myelodysplastic syndrome with Excess blasts-1 refractory anemia with excess blasts type 1 myelodysplastic syndrome with excess blasts-1 MONDO:0015041 A myelodysplastic syndrome defined by 10-19% blasts in the bone marrow or 5-19% blasts in the blood and <10% blasts in the bone marrow. Approximately 33% of cases progress to acute leukemia. The prognosis is usually poor. (WHO) MDS-EB-2 RAEB-2 RAEB-II myelodysplastic syndrome with Excess blasts-2 refractory anemia with excess blasts type 2 myelodysplastic syndrome with excess blasts-2 MONDO:0015042 primary plasmacytoma of the bone MONDO:0015043 extramedullary soft tissue plasmacytoma MONDO:0015044 Mu-heavy chain disease (mu-HCD) is a type of HCD characterized by the production of incomplete monoclonal mu-heavy chains without associated light chains. The clinical presentation resembles that of patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL). mu chain disease mu heavy chain disease mu-HCD mu-heavy chain disease MONDO:0015045 Alpha-heavy chain disease (alpha-HCD) is a type of HCD characterized by the production of incomplete monoclonal alpha-heavy chains without associated light chains. Alpha-HCD is considered to be a subtype of immunoproliferative small intestinal disease (IPSID). The clinical presentation includes chronic diarrhea with evidence of malabsorption. Alpha heavy chain disease Alpha-HCD IPSID Immunoproliferative small intestinal disease Mediterranean abdominal lymphoma Mediterranean lymphoma Mediterraneanl lymphoma alpha chain disease Seligmann's disease alpha-heavy chain disease MONDO:0015046 Gamma-heavy chain disease (gamma-HCD) is a type of HCD characterized by the production of incomplete monoclonal gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases. Franklin disease Franklin's disease gamma heavy chain disease gamma-HCD gamma-heavy chain disease MONDO:0015047 hypoplastic amelogenesis imperfecta amelogenesis imperfecta type 1 MONDO:0015048 hypomaturation amelogenesis imperfecta amelogenesis imperfecta hypomaturation type amelogenesis imperfecta type 2 MONDO:0015049 Solitary necrotic tumor of the liver is a rare nonmalignant hepatic lesion characterized by a mass with a completely necrotic core often partially calcified, surrounded by a dense hyalinized fibrous capsule containing elastin fibers. Patients are usually asymptomatic but some may suffer from intermittent abdominal pain or discomfort. hepatic solitary necrotic nodule solitary necrotic nodule of the liver MONDO:0015050 Esophageal duplication cyst is a rare, congenital, non-syndromic esophageal malformation, most frequently located in the distal esophagus and usually diagnosed in childhood, characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, are continuous or contiguous to the esophagus and may, or may not, communicate with the esophageal lumen. Patients are frequently asymptomatic, or could present with a wide range of symptoms including respiratory distress, failure to thrive, dysphagia, epigastric discomfort, vomiting, stridor, non-productive cough, and chest pain. Other more rare symptoms, such as cardiac arrhythmia, thoracic back pain, cystic hemorrgage and ulceration, and mediastinitis, have also been reported. esophageal duplication cyst MONDO:0015051 Tubular duplication of the esophagous is a rare congenital malformation where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in children. tubular duplication of the esophagus MONDO:0015053 Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. HAE 1 HAE-I hereditary angioneurotic edema type 1 hereditary angioedema type 1 MONDO:0015054 Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. HAE 2 HAE-II hereditary angioneurotic edema type 2 hereditary angioedema type 2 MONDO:0015055 Acquired angioedema type 2 (AAE2) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. AAE 2 AAE II acquired angioneurotic edema type 2 acquired angioedema type 2 MONDO:0015056 Acquired angioedema type 1 (AAE 1) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. acquired angioneurotic edema type 1 acquired angioedema type 1 MONDO:0015057 Renin-angiotensin-aldosterone system (RAAS)-blocker induced angioedema (RAE) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. https://github.com/monarch-initiative/mondo/issues/3945 RAE Raas-blocker-induced angioedema Raas-blocker-induced angioneurotic edema renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema AEACEI angioedema induced by ACE inhibitors, susceptibility to reactive angioendotheliomatosis susceptibility to angioedema induced by ace inhibitors Editor note: consider separate class for OMIM for predisposition renin-angiotensin-aldosterone system-blocker-induced angioedema MONDO:0015059 Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved. Agramatic variant of PPA Agramatic variant of primary progressive aphasia Primary Progressive Nonfluent aphasia non-fluent variant PPA non-fluent primary progressive aphasia progressive non-fluent aphasia https://rarediseases.info.nih.gov/diseases/10793/progressive-non-fluent-aphasia MONDO:0015060 Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities. Mosaic trisomy chromosome 3 Mosaic trisomy type 3 trisomy 3 mosaicism mosaic trisomy 3 MONDO:0015061 Neurogenic thoracic outlet syndrome (NTOS) is a form of thoracic outlet syndrome (TOS) that presents with pain, paresthesias and weakness in an upper extremity and is divided into true NTOS and disputed NTOS. NTOS neurogenic TOS neurogenic cervical rib syndrome neurogenic costoclavicular syndrome neurogenic thoracic outlet compression syndrome neurogenic thoracic outlet syndrome MONDO:0015062 A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the stomach. GNET gastric NET gastric NET G1/2 gastric neuroendocrine tumor gastric well differentiated endocrine tumor gastric well differentiated endocrine tumor/carcinoma well-differentiated neuroendocrine tumors of the stomach gastric neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0015063 A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the duodenum. duodenal neuroendocrine tumor duodenal neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0015064 A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the jejunum. jejunal neuroendocrine neoplasm jejunal neuroendocrine tumor Editor note: TODO apply G1/G2 pattern jejunal neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0015065 A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the ileum. ileal neuroendocrine neoplasm ileal neuroendocrine tumor Editor note: TODO apply G1/G2 pattern ileal neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0015066 A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the appendix. NEN of appendix appendiceal NEN appendiceal neuroendocrine neoplasm appendiceal neuroendocrine tumor appendix NET appendix neuroendocrine tumor appendix well differentiated endocrine tumor appendix well differentiated endocrine tumor/carcinoma neuroendocrine neoplasm of appendix well-differentiated neuroendocrine tumor of the appendix neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade MONDO:0015067 A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the colon. carcinoid tumor of colon colon neuroendocrine tumor neuroendocrine neoplasm of the colon NET of the colon colonic NET neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor MONDO:0015068 A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the rectum. rectal neuroendocrine tumor neuroendocrine tumor of the rectum neuroendocrine tumor of rectum, well differentiated, low or intermediate grade MONDO:0015069 A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the anal canal. anal canal neuroendocrine neoplasm NET of anal canal NET of the anal canal anal NET anal Neuroendocrine tumor anal canal NET anal canal neuroendocrine tumor anal canal well differentiated tumor anal canal well differentiated tumor/carcinoma neuroendocrine neoplasm of the anal canal neuroendocrine tumor of anal canal Editor note: TODO apply G1/G2 pattern neuroendocrine tumor of the anal canal MONDO:0015070 A benign or malignant neoplasm with neuroendocrine differentiation that arises from the larynx. This category includes paraganglioma, carcinoid tumor, small cell carcinoma, and large cell neuroendocrine carcinoma. laryngeal neuroendocrine neoplasm larynx NET larynx neuroendocrine neoplasm larynx neuroendocrine tumor larynx neuroendocrine tumor, well differentiated, low or intermediate grade neuroendocrine neoplasm of larynx neuroendocrine neoplasm of the larynx neuroendocrine tumor of larynx laryngeal neuroendocrine tumor laryngeal neuroendocrine neoplasm MONDO:0015071 A neuroendocrine neoplasm that involves the middle ear. middle ear NET middle ear neuroendocrine neoplasm middle ear neuroendocrine tumor middle ear neuroendocrine tumor, well differentiated, low or intermediate grade neuroendocrine neoplasm of middle ear neuroendocrine tumor of middle ear middle ear neuroendocrine tumor MONDO:0015072 An extremely rare, aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the liver. HNEC PHNEC hepatic neuroendocrine carcinoma liver neuroendocrine cancer liver neuroendocrine carcinoma neuroendocrine carcinoma of liver primary hepatic neuroendocrine carcinoma primary liver neuroendocrine carcinoma liver neuroendocrine carcinoma MONDO:0015073 A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the gallbladder. gallbladder NET gallbladder neuroendocrine tumor gallbladder well differentiated endocrine tumor gallbladder well differentiated endocrine tumor/carcinoma gallbladder neuroendocrine tumor, grade 1/2 MONDO:0015074 A benign or malignant neoplasm affecting the thyroid gland. neoplasm of the thyroid neoplasm of the thyroid gland neoplasm of thyroid neoplasm of thyroid gland thyroid gland neoplasm thyroid gland neoplasm (disease) thyroid gland tumor thyroid neoplasm thyroid neoplasms thyroid tumor tumor of the thyroid tumor of the thyroid gland tumor of thyroid tumor of thyroid gland THYROID Editor note: TODO thyroid tumor MONDO:0015075 A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic. cancer of the thyroid cancer of thyroid head and neck cancer, thyroid thyroid cancer thyroid gland cancer carcinoma of the thyroid carcinoma of the thyroid gland carcinoma of thyroid carcinoma of thyroid gland thyroid carcinoma thyroid gland carcinoma thyroid gland carcinoma MONDO:0015079 Editor note: ORDO classifies as inherited but there are non-inherited forms such as Carney triad multiple polyglandular tumor MONDO:0015082 IPP-Gelfand syndrome alopecia antibody deficiency MONDO:0015083 Editor note: see notes for supranuclear nuclear oculomotor paralysis MONDO:0015084 FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established. FRAXF syndrome MONDO:0015085 Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of large dark scales in specific areas of the body. BSI bathing suit ichthyosis MONDO:0015086 Benallegue-Lacete syndrome Benallegue Lacete syndrome cloverleaf skull and asphyxiating thoracic dysplasia cloverleaf skull-asphyxiating thoracic dysplasia syndrome https://rarediseases.info.nih.gov/diseases/853/benallegue-lacete-syndrome MONDO:0015087 Autosomal dominant form of complex hereditary spastic paraplegia. autosomal dominant complex HSP autosomal dominant complex SPG autosomal dominant complex hereditary spastic paraplegia autosomal dominant complicated HSP autosomal dominant complicated SPG autosomal dominant complicated spastic paraplegia complex hereditary spastic paraplegia, autosomal dominant autosomal dominant complex spastic paraplegia MONDO:0015088 Autosomal dominant form of pure hereditary spastic paraplegia. autosomal dominant pure HSP autosomal dominant pure SPG autosomal dominant pure hereditary spastic paraplegia autosomal dominant uncomplicated HSP autosomal dominant uncomplicated SPG autosomal dominant uncomplicated spastic paraplegia pure hereditary spastic paraplegia, autosomal dominant autosomal dominant pure spastic paraplegia MONDO:0015089 Autosomal recessive form of complex hereditary spastic paraplegia. autosomal recessive complex HSP autosomal recessive complex SPG autosomal recessive complex hereditary spastic paraplegia autosomal recessive complicated HSP autosomal recessive complicated SPG autosomal recessive complicated spastic paraplegia complex hereditary spastic paraplegia, autosomal recessive autosomal recessive complex spastic paraplegia MONDO:0015090 Autosomal recessive form of pure hereditary spastic paraplegia. autosomal recessive pure HSP autosomal recessive pure SPG autosomal recessive pure hereditary spastic paraplegia autosomal recessive uncomplicated HSP autosomal recessive uncomplicated SPG autosomal recessive uncomplicated spastic paraplegia pure hereditary spastic paraplegia, autosomal recessive autosomal recessive pure spastic paraplegia MONDO:0015091 Any autosomal dominant complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene. ALDH18A1 autosomal dominant complex spastic paraplegia SPG9 autosomal dominant complex spastic paraplegia caused by mutation in ALDH18A1 cataracts-motor neuropathy-short stature-skeletal anomalies syndrome spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome autosomal dominant spastic paraparesis bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy cataracts, motor neuronopathy, short stature and skeletal abnormalities spastic paraplegia 9 autosomal dominant spastic paraplegia type 9 MONDO:0015092 cleft hard palate MONDO:0015093 sub-cortical nodular heterotopia MONDO:0015094 subependymal nodular heterotopia https://rarediseases.info.nih.gov/diseases/5050/subependymal-nodular-heterotopia MONDO:0015095 Peters anomaly-cataract syndrome MONDO:0015096 Familial hypofibrinogenemia is a coagulation disorder characterized by mild bleeding symptoms following trauma or surgery due to a reduced plasma fibrinogen concentration. hypofibrinogenemia, familial familial hypofibrinogenemia https://rarediseases.info.nih.gov/diseases/2887/hypofibrinogenemia-familial MONDO:0015097 aortic valve dysplasia MONDO:0015099 unilateral hemispheric polymicrogyria MONDO:0015100 aregenerative anemia MONDO:0015101 Marin-Amat syndrome MONDO:0015102 non-secreting chemodectoma non-functioning chemodectoma non-secreting chemodectoma MONDO:0015103 Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion. APV/ADA, Fallot type PVA/ADA, Fallot type absence of pulmonary valve-Fallot tetralogy-absence of ductus arteriosus syndrome pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome MONDO:0015104 The most common form of chronic hepatic porphyria. It is characterized by bullous photodermatitis. PCT porphyria cutania tarda Editor notes: ORDO classifies as inherited but in fact many forms are inherited porphyria cutanea tarda MONDO:0015109 congenital anomaly of the mitral subvalvular apparatus MONDO:0015111 https://github.com/monarch-initiative/mondo/issues/254 gastroesophageal disease MONDO:0015126 polyendocrinopathy MONDO:0015127 Editor note: in ORDO, Orphanet:101957 is classified as genetic, yet has acquired subtypes pituitary deficiency MONDO:0015128 A hormonal disorder that occurs when the adrenal glands fail to release adequate amounts of glucocorticoids (cortisol), mineralocorticoids (aldosterone, 11-deoxycorticosterone), and androgens (dehydroepiandrosterone) to meet physiologic needs, despite release of ACTH from the pituitary. primary adrenal insufficiency MONDO:0015129 A chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones. https://github.com/monarch-initiative/mondo/issues/1218 Addison disease Addison disease, chronic adrenal insufficiency Addison's disease CPAI autoimmune Addison disease autoimmune adrenalitis chronic adrenocorticoid insufficiency classic Addison's disease hypoadrenocorticism, familial primary Addison's disease primary adrenal insufficiency, chronic primary adrenocortical insufficiency primary hypoadrenalism autoimmune primary adrenal insufficiency adrenal aplasia adrenal gland hypofunction adrenal hypoplasia hypoadrenocorticism familial chronic primary adrenal insufficiency MONDO:0015130 An instance of chronic primary adrenal insufficiency that is acquired during the lifetime of the individual. acquired chronic primary adrenal insufficiency acquired chronic primary adrenal insufficiency MONDO:0015131 A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern. CID combined immunodeficiency congenital combined immunodeficiency X-linked combined immunodeficiency combined T and B cell immunodeficiency combined T cell and B cell immunodeficiency combined immunodeficiency MONDO:0015132 immunodeficiency predominantly affecting antibody production MONDO:0015133 https://github.com/monarch-initiative/mondo/issues/4069 Editor note: check how relates to phagocytosis terms quantitative and/or qualitative congenital phagocyte defect MONDO:0015134 A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood. congenital neutropenia genetic infantile agranulocytosis infantile genetic agranulocytosis Kostmann disease Kostmann neutropenia Kostmann syndrome constitutional neutropenia MONDO:0015135 primary immunodeficiency due to a defect in innate immunity primary immunodeficiency due to a genetic defect in innate immunity MONDO:0015137 Fevers of unknown etiology recurring over months or years. periodic fever syndrome MONDO:0015140 A progressive dementia with reduction of cognitive functions. It presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old. EOFAD early-onset familial autosomal dominant Alzheimer disease early-onset, autosomal dominant Alzheimer disease early-onset autosomal dominant Alzheimer disease MONDO:0015141 A disease that involves the medulla oblongata. disease of medulla oblongata disease or disorder of medulla oblongata disorder of medulla oblongata medulla oblongata disease medulla oblongata disease or disorder medullar disease disorder of medulla oblongata MONDO:0015144 An inflammatory disease involving a pathogenic inflammatory response in the brain. brain inflammation inflammation of brain brain inflammatory disease MONDO:0015145 neurovascular malformation MONDO:0015146 lissencephaly type 1 ILS lissencephaly classic lissencephaly sequence isolated classic lissencephaly MONDO:0015148 lissencephaly type 3 MONDO:0015149 Pure HSP Pure SPG Pure familial spastic paraplegia uncomplicated HSP uncomplicated SPG uncomplicated familial spastic paraplegia uncomplicated hereditary spastic paraplegia pure hereditary spastic paraplegia MONDO:0015150 A hereditary spastic paraplegia that is part of a larger syndrome. Complex HSP Complex SPG Complex familial spastic paraplegia complicated HSP complicated SPG complicated familial spastic paraplegia complicated hereditary spastic paraplegia syndrome associated with hereditary spastic paraplegia syndromic hereditary spastic paraplegia complex hereditary spastic paraplegia MONDO:0015151 Autosomal dominant form of limb-girdle muscular dystrophy. autosomal dominant limb-girdle muscular dystrophy limb-girdle muscular dystrophy, autosomal dominant muscular dystrophy, limb-girdle, autosomal dominant muscular dystrophy, limb-girdle, autosomal dominant MONDO:0015152 Autosomal recessive form of limb-girdle muscular dystrophy. autosomal recessive limb-girdle muscular dystrophy limb-girdle muscular dystrophy, autosomal recessive muscular dystrophy, limb-girdle, autosomal recessive autosomal recessive limb-girdle muscular dystrophy MONDO:0015157 HHV-8-related disorder Editor note: TODO check this human herpesvirus 8-related tumor MONDO:0015158 unexplained periodic fever syndrome MONDO:0015159 https://github.com/monarch-initiative/mondo/issues/4069 MCA/MR multiple congenital anomalies-intellectual disability with or without dysmorphism multiple congenital anomalies/dysmorphic syndrome-intellectual disability multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0015160 https://github.com/monarch-initiative/mondo/issues/4069 MCA/variable MR multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome MONDO:0015161 https://github.com/monarch-initiative/mondo/issues/4069 MCA without intellectual disability multiple congenital anomalies without intellectual disability with or without dysmorphism multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0015164 Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent is a subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain). AML and myelodysplastic syndromes related to alkylating agent acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent MONDO:0015165 Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposid, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement. AML and myelodysplastic syndromes related to topoisomerase type 2 inhibitor acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor MONDO:0015166 AML with t(8;21)(q22;q22) translocation acute myeloid leukemia with t(8;21)(q22;q22) translocation MONDO:0015167 A group of sporadic congenital anomalies, that occur in association with amniotic bands, involving the limbs, craniofacial regions, spine and trunk with a highly variable clinical spectrum ranging from simple digital band constriction (or amputation) to complex craniofacial, central nervous system and visceral anomalies. https://github.com/monarch-initiative/mondo/issues/5001 Adam syndrome Streeter dysplasia amniotic band constriction amniotic bands amniotic deformity-adhesion-mutilation syndrome congenital ring constrictions constriction band syndrome constriction rings syndrome deformity due to amniotic band Adam Complex CONSTRICTING bands, congenital Streeter anomaly amniotic band sequence amniotic bands sequence amputation, congenital congenital constricting bands familial amniotic bands terminal transverse defects of arm amniotic band syndrome MONDO:0015168 Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by congenital limb contractures. It manifests as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. AMC is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures. AMC Arthromyodysplasia congenita arthrogryposis multiplex congenita congenital arthromyodysplasia multiple congenital arthrogryposis myodysplasia Guerin-Stern syndrome Guérin-Stern syndrome Otto syndrome Rossi syndrome amyoplasia congenita congenital amyoplasia fibrous ankylosis of multiple joints myodystrophia fetalis deformans rocher-Sheldon syndrome arthrogryposis multiplex congenita MONDO:0015169 This syndrome is characterised by chronic diarrhoea in infancy or childhood in association with intestinal glucoamylase deficiency. chronic diarrhea due to glucoamylase deficiency maltase-glucoamylase deficiency maltase glucoamylase deficiency chronic diarrhea due to glucoamylase deficiency MONDO:0015170 Congenital sodium diarrhea is characterized by severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis. https://github.com/monarch-initiative/mondo/issues/4069 Na-H exchange deficiency congenital sodium diarrhea MONDO:0015171 Congenital enterocyte heparan sulphate deficiency is characterised by massive enteric protein loss, secretory diarrhoea, and intolerance to enteral feeds during the first few weeks of life. https://github.com/monarch-initiative/mondo/issues/4069 congenital enterocyte heparan sulfate deficiency MONDO:0015174 autoimmune enteropathy type 3 MONDO:0015175 Autoimmune pancreatitis (AIP) is a rare pancreatic disease characterized by chronic non-alcoholic pancreatitis that presents with abdominal pain, steatorrhea, obstructive jaundice and responds well to steroid therapy and is seen in two subforms: type 1 AIP which affects elderly males, involves other organs and has increased immunoglobin G4 (IgG4) levels and type 2 AIP which affects both sexes equally but presents at a younger age and has no other organ involvement or increased IgG4 levels. https://github.com/monarch-initiative/mondo/issues/5537 AIP lymphoplasmocytic sclerosing pancreatitis autoimmune pancreatitis MONDO:0015176 Underterminate colitis designates a rare inflammatory bowel disease that clinically resembles CrohnBs disease and ulcerative colitis but that cannot be diagnosed as one of them after examination of an intestinal resection specimen. undetermined colitis MONDO:0015177 Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed. Maroteaux-Verloes-Stanescu syndrome regressive metaphyseal dysplasia MAD Maroteaux Verloes Stanescu syndrome early-onset regressive form of metaphyseal dysplasia metaphyseal anadysplasia https://rarediseases.info.nih.gov/diseases/3562/metaphyseal-anadysplasia MONDO:0015178 https://github.com/monarch-initiative/mondo/issues/4069 congenital intestinal transport defect MONDO:0015179 intestinal disease due to vitamin absorption anomaly MONDO:0015180 intestinal disease due to fat malabsorption MONDO:0015182 https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/5114 2022-09-01 Reason: out of scope. MONDO:excludeGroupingClass. Term to consider:MONDO:0005020 intestinal disorder congenital enteropathy involving intestinal mucosa development MONDO:0015183 Short bowel syndrome is an intestinal failure due to either a congenital defect, intestinal infarction or extensive surgical resection of the intestinal tract that results in a functional small intestine of less than 200cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility. acquired short bowel syndrome short gut syndrome short bowel syndrome https://rarediseases.info.nih.gov/diseases/1502/short-bowel-syndrome MONDO:0015185 intestinal polyposis syndrome MONDO:0015191 myopathic intestinal pseudoobstruction MONDO:0015193 Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility). hydrops fetalis (disease) HF fetal anasarca fetal hydrops generalized fetal edema hydrops fetalis hydrops fetalis (disease) familial non-immune hydrops fetalis fetal edema hydrops fetalis nonimmune idiopathic hydrops fetalis hydrops fetalis MONDO:0015194 A group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias. The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias. anemia sideroblastic anemia, hypochromic with iron loading sideroblastic anemia sideroblastic anemia MONDO:0015195 Atresia of the urethra is a rare congenital bladder outlet obstruction, a fetal lower urinary tract obstruction (fetal LUTO), that is usually fatal. Unless there is some other egress for the urine to escape the bladder, such as patent urachus or anuro-rectal communication, these lesions are not compatible with renal development. atresia of urethra (disease) atresia of urethra atresia of urethra (disease) urethral atresia atresia of urethra MONDO:0015196 Vein of Galen aneurysm is a rare formof arteriovenous malformation in which the embryonic precursor to the vein of Galen, a vein at the base of the brain, dilates causing too much blood to rush to the heart. This can lead to rapid heart failure. Other features may include increased head circumference resulting from hydrocephalus, unusually prominent veins on the face and scalp, developmental delay, persistent headache, and other neurological findings. Vein of Galen aneurysm is often recognized on an ultrasound late in pregnancy. In other cases, it is diagnosed after birth. Although the exact cause remains unknown, this condition appears to result from a defect in early fetal development. Treatment is aimed at decreasing the blood flow through the malformation while maximizing the blood supply to the brain. Minimally invasive surgical techniques are preferred, such as endovascular embolization. vein of Galen arteriovenous malformations Galen vein aneurysm Galenic arteriovenous malformation VGAM ectasia or varix of the vein of Galen vein of Galen aneurysm malformation vein of Galen aneurysm https://rarediseases.info.nih.gov/diseases/5467/vein-of-galen-aneurysm MONDO:0015197 Sinus of Valsalva aneurysm (SVA) is a rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated. SVA sinus of Valsalva aneurysm aneurysm of sinus of Valsalva https://rarediseases.info.nih.gov/diseases/670/aneurysm-of-sinus-of-valsalva MONDO:0015198 Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986. https://github.com/monarch-initiative/mondo/issues/5588 aniridia - ptosis - intellectual disability - familial obesity aniridia-ptosis-intellectual disability-familial obesity syndrome MONDO:0015199 Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974. https://github.com/monarch-initiative/mondo/issues/5588 Walker-Dyson syndrome Walker Dyson syndrome aniridia associated with intellectual disability and other eye abnormalities aniridia associated with mental retardation and other eye abnormalities aniridia - intellectual disability syndrome MONDO:0015200 Infection with roundworms of the genus anisakis. Human infection results from the consumption of fish harboring roundworm larvae. The worms may cause acute nausea; vomiting; or penetrate into the wall of the digestive tract where they give rise to eosinophilic granuloma in the stomach; intestines; or the omentum. Anisakis simplex infection infection by Anisakis larva Anisakiases Anisakis infection Pseudoterranova infection infections, Anisakis simplex anisakiasis https://rarediseases.info.nih.gov/diseases/693/anisakiasis MONDO:0015201 An extremely rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993. Aughton-Hufnagle syndrome ankyloblepharon filiforme adnatum-imperforate anus syndrome ankyloblepharon filiforme-imperforate anus syndrome MONDO:0015203 coronary artery congenital malformation MONDO:0015204 Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years. microlissencephaly MONDO:0015205 Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly. It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures. isolated lissencephaly type 1 without known genetic defects MONDO:0015206 Rommen-Mueller-Sybert syndrome Rommen Mueller Sybert syndrome short stature heart defect and craniofacial anomalies short stature-heart defect-craniofacial anomalies syndrome MONDO:0015207 A esophageal malformation that is not part of a larger syndrome. isolated esophageal malformation nonsyndromic esophageal malformation non-syndromic esophageal malformation MONDO:0015208 A esophageal malformation that is part of a larger syndrome. syndrome associated with esophageal malformation syndromic esophageal malformation syndromic esophageal malformation MONDO:0015209 A gastroduodenal malformation that is not part of a larger syndrome. isolated gastroduodenal malformation nonsyndromic gastroduodenal malformation non-syndromic gastroduodenal malformation MONDO:0015210 A gastroduodenal malformation that is part of a larger syndrome. syndrome associated with gastroduodenal malformation syndromic gastroduodenal malformation syndromic gastroduodenal malformation MONDO:0015211 A intestinal malformation that is not part of a larger syndrome. isolated intestinal malformation nonsyndromic intestinal malformation non-syndromic intestinal malformation MONDO:0015212 A intestinal malformation that is part of a larger syndrome. syndrome associated with intestinal malformation syndromic intestinal malformation syndromic intestinal malformation MONDO:0015213 nonsyndromic visceral malformation isolated visceral malformation non-syndromic visceral malformation MONDO:0015214 syndromic visceral malformation MONDO:0015215 A diaphragmatic or abdominal wall malformation that is not part of a larger syndrome. https://github.com/monarch-initiative/mondo/issues/5451 2023-01-01 isolated diaphragmatic or abdominal wall malformation nonsyndromic diaphragmatic or abdominal wall malformation This will be obsoleted in the 2023-01-01 release. The term will be split and the new ID for this term will be MONDO:0800169 (non-syndromic diaphragmatic wall malformation), and MONDO:0800172 (non-syndromic abdominal wall malformation). non-syndromic diaphragmatic or abdominal wall malformation MONDO:0015216 A diaphragmatic or abdominal wall malformation that is part of a larger syndrome. https://github.com/monarch-initiative/mondo/issues/5451 2023-01-01 syndrome associated with diaphragmatic or abdominal wall malformation syndromic diaphragmatic or abdominal wall malformation This will be obsoleted in the 2023-01-01 release. The term will be split and the new ID for this term will be MONDO:0800170 (syndromic diaphragmatic wall malformation), and MONDO:0800173 (syndromic abdominal wall malformation). syndromic diaphragmatic or abdominal wall malformation MONDO:0015217 A developmental defect of the eye that is not part of a larger syndrome. isolated developmental defect of the eye nonsyndromic developmental defect of the eye non-syndromic developmental defect of the eye MONDO:0015219 A central nervous system malformation that is not part of a larger syndrome. isolated central nervous system malformation nonsyndromic central nervous system malformation Editor note: ORDO has various potentially syndromic disease groupings under here, we modify these. See https://github.com/monarch-initiative/mondo-build/issues/58 non-syndromic central nervous system malformation MONDO:0015221 A respiratory or mediastinal malformation that is not part of a larger syndrome. isolated respiratory or mediastinal malformation nonsyndromic respiratory or mediastinal malformation non-syndromic respiratory or mediastinal malformation MONDO:0015222 A respiratory or mediastinal malformation that is part of a larger syndrome. syndrome associated with respiratory or mediastinal malformation syndromic respiratory or mediastinal malformation syndromic respiratory or mediastinal malformation MONDO:0015225 arthrogryposis syndrome arthrogryposis syndrome MONDO:0015227 nonsyndromic limb malformation isolated limb malformation non-syndromic limb malformation MONDO:0015228 Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX). 49, XXXXX syndrome 49,XXXXX syndrome Pentasomy type X XXXXX syndrome penta X syndrome penta-X poly-X Pentasomy X syndrome chromosome X pentasomy chromosome XXXXX syndrome penta-X syndrome pentasomy X MONDO:0015229 A ciliopathy with multisystem involvement. It is invariantly characterized by rod-cone dystrophy, and at least three additional non-ocular features such as intellectual disability, obesity, polydactyly, hypogonadism, or renal anomalies as primary manifestations. In the absence of one of these four primary clinical features, the diagnosis of BBS is made when at least two secondary features are observed, including hepatic fibrosis, diabetes mellitus, reproductive and developmental abnormalities, growth retardation, speech delays, or cardiovascular problems BBS Bardet-Biedl syndrome Bardet-Biedl syndrome MONDO:0015230 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome is a multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterized by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia) and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992. Cassia Stocco dos Santos syndrome anophthalmia megalocornea cardiopathy skeletal anomalies anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome https://rarediseases.info.nih.gov/diseases/717/anophthalmia-megalocornea-cardiopathy-skeletal-anomalies MONDO:0015231 Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II. Bartter disease Bartter's syndrome aldosteronism with hyperplasia of the adrenal cortex hypokalemic alkalosis renal tubular normotensive hypokalemic alkalosis with hypercalciuria salt-losing tubular disorder, Henle's loop type salt-wasting tubulopathy, Henle's loop type Potassium wasting hypokalemic alkalosis with hypercalciuria Bartter syndrome https://rarediseases.info.nih.gov/diseases/5893/bartter-syndrome MONDO:0015232 radial deficiency-tibial hypoplasia syndrome MONDO:0015233 Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys. https://github.com/monarch-initiative/mondo/issues/5588 Lynch-Lee-Murday syndrome Lynch Lee Murday syndrome caudal appendage deafness caudal appendage, short terminal phalanges, deafness, cryptorchidism and intellectual disability caudal appendage, short terminal phalanges, deafness, cryptorchidism and mental retardation caudal appendage-deafness syndrome https://rarediseases.info.nih.gov/diseases/1163/caudal-appendage-deafness MONDO:0015234 Arachnodactyly - abnormal ossification - intellectual disability is a multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophtalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability. https://github.com/monarch-initiative/mondo/issues/5588 Kosztolanyi syndrome arachnodactyly, abnormal ossification and intellectual disability arachnodactyly, abnormal ossification and mental retardation arachnodactyly-abnormal ossification-intellectual disability syndrome MONDO:0015235 Arachnodactyly-intellectual disability-dysmorphism syndrome is characterized by moderate intellectual deficit, brachycephaly, typical facies (thin lips and microstomia), ectomorphic habitus with extremely long, thin fingers and toes, and hypoplastic external genitalia. It has been described in three patients. De Die-Smulders-Vles-Fryns syndrome arachnodactyly - intellectual disability - dysmorphism arachnodactyly-intellectual disability-dysmorphism syndrome MONDO:0015236 Congenital abnormalities of the aortic arch result from aberrant development of one or more components of the embyronic pharangeal arch system. Any component of tihs system can regress or persist abnormally, resulting in an extensive array of aortic arch anomalies. Clinically, they are classified by those that cause (or are likely to cause) physiolgogical abnormalities and those that do not. Physiologic abnormalities include tracheobronchial compression, esophageeal compression, and abnormal blood flow patteren. aortic arch defects https://rarediseases.info.nih.gov/diseases/741/aortic-arches-defect MONDO:0015237 Arrhinia is an extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arrhinia can be bilateral or unilateral (hemiarrhinia). Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia. Nose agenesis isolated nose agenesis Nose agenesia congenital absence of the nose isolated arrhinia arrhinia https://rarediseases.info.nih.gov/diseases/364/arrhinia MONDO:0015238 Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. Bosma Henkin Christiansen syndrome Bosma arhinia microphthalmia syndrome arhinia choanal atresia microphthalmia congenital absence of nose and anterior nasopharynx arrhinia-choanal atresia-microphthalmia syndrome https://rarediseases.info.nih.gov/diseases/8755/arhinia-choanal-atresia-microphthalmia MONDO:0015239 abnormal origin of the pulmonary artery MONDO:0015240 Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis. DA1 arthrogryposis multiplex congenita distal type 1 digitotalar dysmorphism distal arthrogryposis type 1 distal arthrogryposis type 1A (sub-type) distal arthrogryposis type 1B (sub-type) AMCD1 digitotalar dysmorphism https://rarediseases.info.nih.gov/diseases/787/distal-arthrogryposis-type-1 MONDO:0015241 Arthrogryposis-like syndrome, also known as Kuskokwim disease, is a very rare congenital contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested. Kuskokwim disease Kuskokwim syndrome arthrogryposis like disorder arthrogryposis-like syndrome https://rarediseases.info.nih.gov/diseases/783/arthrogryposis-like-disorder MONDO:0015243 Allergic bronchopulmonary aspergillosis (ABPA) is a rare immunologic pulmonary disorder caused by hypersensitivity to Aspergillus fumigatus, clinically manifesting with poorly controlled asthma and recurrent pulmonary infiltrates. ABPA Hinson-Pepys disease allergic aspergillosis pulmonary aspergillus disease allergic bronchopulmonary aspergillosis, familial allergic bronchopulmonary mycosis aspergillosis, allergic bronchopulmonary allergic bronchopulmonary aspergillosis https://rarediseases.info.nih.gov/diseases/602/allergic-bronchopulmonary-aspergillosis MONDO:0015244 Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years. arca cerebellar ataxia, autosomal recessive autosomal recessive cerebellar ataxia MONDO:0015246 A anorectal malformation that is part of a larger syndrome. https://github.com/monarch-initiative/mondo/issues/5114 2022-09-01 syndrome associated with anorectal malformation syndromic anorectal malformation Reason: out of scope. MONDO:excludeGroupingClass. Term to consider:MONDO:0019938 anorectal malformation syndromic anorectal malformation MONDO:0015247 Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders. Ataxo-opso-myoclonus syndrome Kinsbourne syndrome OMS POMA syndrome dancing eye syndrome dancing eye-dancing feet syndrome oma syndrome opsoclonus myoclonus syndrome opsoclonus-myoclonus-ataxia syndrome paraneoplastic opsoclonus-myoclonus paraneoplastic opsoclonus-myoclonus-ataxia syndrome opsoclonus-myoclonus syndrome MONDO:0015248 Ataxia-photosensitivity-short stature syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additonal features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983. Fenton-Wilkinson-Toselano syndrome ataxia-photosensitivity-short stature syndrome MONDO:0015249 A congenital heart defect characterized by the complete atresia of the mitral valve. congenital atresia of mitral valve congenital mitral valve atresia mitral atresia mitral valve atresia mitral atresia disorder MONDO:0015250 Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994. Hamano-Tsukamoto syndrome Hamano Tsukamoto syndrome infantile progressive spinal muscular atrophy with ophthalmoplegia and pyramidal symptoms spinal atrophy ophthalmoplegia pyramidal syndrome spinal atrophy-ophthalmoplegia-pyramidal syndrome https://rarediseases.info.nih.gov/diseases/4942/spinal-atrophy-ophthalmoplegia-pyramidal-syndrome MONDO:0015252 severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome BD syndrome intellectual disability - athetosis - microphthalmia intellectual disability-athetosis-microphthalmia syndrome severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome https://rarediseases.info.nih.gov/diseases/3482/intellectual-disability---athetosis---microphthalmia MONDO:0015253 A congenital aregenerative and often macrocytic anemia with erythroblastopenia. Aase syndrome Aase-Smith II syndrome Blackfan - Diamond syndrome Blackfan-Diamond anemia DBA Diamond-Blackfan anemia chronic constitutional pure red cell anaemia congenital PRCA congenital hypoplastic anemia congenital hypoplastic anemia, Blackfan-Diamond type congenital pure red cell aplasia erythrogenesis imperfecta inherited erythroblastopenia BDS Blackfan Diamond syndrome Red cell aplasia, pure hereditary anemia Diamond Blackfan type anemia congenital erythroid hypoplastic aregenerative anemia chronic congenital Diamond-Blackfan anemia MONDO:0015254 An infectious disease caused by parasitic trematodes of the genus Schistosoma that colonize human blood vessels and release eggs that can cause granulomatous reactions leading to acute (swimmer's itch or acute schistosomiasis syndrome) or chronic disease. Depending on where the eggs lodge, manifestations of chronic schistosomiasis can include diarrhea, abdominal pain, loss of appetite, anemia (intestines), hepatosplenism, periportal fibrosis with portal hypertension (liver), urogenital inflammation and scarring, hematuria and dysuria (genitourinary system). Other patients may be asymptomatic. Bilharzia bilharziasis schistosomiasis snail fever schistosomiasis MONDO:0015255 Jorgenson-Lenz syndrome Jorgenson Lenz syndrome blepharophimosis radioulnar synostosis mild short stature, microcephaly, ptosis-blepharophimosis, facial asymmetry, and radioulnar synostosis ptosis, prognathism, microcephaly, radio-ulnar synostosis, short stature/dwarfism blepharophimosis-radioulnar synostosis syndrome MONDO:0015256 Rodini-Richieri Costa syndrome blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome MONDO:0015257 sino-auricular heart block MONDO:0015259 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse). https://github.com/monarch-initiative/mondo/issues/5588 Stratton-Garcia-Young syndrome brachydactyly mesomelia intellectual disability aortic dilatation mitral valve prolapse and characteristic face brachydactyly mesomelia mental retardation aortic dilatation mitral valve prolapse and characteristic face brachydactyly-mesomelia-intellectual disability-heart defects syndrome https://rarediseases.info.nih.gov/diseases/5036/brachydactyly-mesomelia-intellectual-disability-heart-defects-syndrome MONDO:0015260 Bothriocephalosis is a mammalian cosmopolitan intestinal parasitosis. In addition to non-specific digestive problems (nausea, abdominal pain, lack of appetite), bothriocephalosis provokes an anaemia caused by vitamin B12 deficiency that resembles Biermer anaemia (anaemia characterised by abnormally large red blood cells). Bothriocephalosis Diphyllobothrium caused disease or disorder Diphyllobothrium disease or disorder Diphyllobothrium infection Diphyllobothrium infectious disease fish tapeworm diphyllobothriasis MONDO:0015261 Pseudo-pelade of Brocq is a rare hair abnormality characterized by onset in adulthood of soft, irregular, flesh-toned patches of alopecia primarily in the parietal and vertex portions of the scalp, without follicular hyperkeratosis or perifollicular inflammation. Brocq pseudopelade pseudo pelade of Brocq pseudo-pelade of Brocq pseudopelade of Brocq https://rarediseases.info.nih.gov/diseases/4536/pseudopelade-of-brocq MONDO:0015262 Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones. brachyrachia brachyolmia MONDO:0015263 A genetically heterogeneous condition characterized by complete or incomplete right bundle branch block accompanied by ST elevation in leads V1-V3. There is a high incidence of ventricular arrhythmia that may result in sudden death. Bangungut Brugada syndrome Brugada type idiopathic ventricular fibrillation Pokkuri death syndrome SUNDS dream disease idiopathic ventricular fibrillation, Brugada type right bundle branch block, ST segment elevation, and sudden death syndrome sudden unexplained nocturnal death syndrome sudden unexpected nocturnal death syndrome Brugada syndrome MONDO:0015264 Cryptogenic organizing pneumonia (COP) is a form of idiopathic interstitial pneumonia characterized pathologically by organizing pneumonia (OP) that presents with non-specific flu-like symptoms, as well as cough and dyspnea and where no etiological agent is found. https://github.com/monarch-initiative/mondo/issues/4417 COP bronchiolitis obliterans organizing pneumonia cryptogenic organizing pneumonitis idiopathic bronchiolitis obliterans with organizing pneumonia organizing pneumonia constrictive bronchiolitis idiopathic BOOP idiopathic bronchiolitis obliterans organizing pneumonia cryptogenic organizing pneumonia MONDO:0015265 A lung disorder that is mainly associated with chronic allograft dysfunction after lung transplantation and that is characterized by inflammation and fibrosis of bronchiolar walls that reduce the diameter of the bronchioles and result in progressive and irreversible airflow obstruction. https://github.com/monarch-initiative/mondo/issues/5260 BOOP bronchiolitis fibrosa obliterans constrictive bronchiolitis organized pneumonia bronchiolitis obliterans with obstructive pulmonary disease BO bronchiolitis exudativa bronchiolitis obliterans obliterative bronchiolitis organizing pneumonia This is restricted to lung transplant patients. bronchiolitis obliterans syndrome MONDO:0015267 Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures. Brunner-Winter syndrome FGLDS FS MMT MODED syndrome ODED syndrome digital anomalies with short palpebral fissures and atresia of esophagus or duodenum microcephaly-digital anomalies-normal intelligence syndrome microcephaly-intellectual disability-tracheoesophageal fistula syndrome microcephaly-oculo-digito-esophageal-duodenal syndrome microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome oculo-digito-esophageal-duodenal syndrome digital anomalies with short palpebral fissures and atresia of esophagus, or duodenum Feingold syndrome MONDO:0015268 Medullary sponge kidney (MSK) is a birth defect of the tubules - tiny tubes inside the kidneys. In a normal kidney, urine flows through these tubules as it is being formed. In MSK, tiny sacs called cysts form in the medulla (the inner part of the kidney), creating a sponge-like appearance. The cysts keep urine from flowing freely through the tubules. MSK is present at birth but symptoms typically do not occur until adolescence or adulthood. Problems caused by MSK include blood in the urine, kidney stones, and urinary tract infections. MSK rarely leads to more serious problems, such as total kidney failure. There is no cure for this condition, so treatment is aimed at removing kidney stones and treating urinary tract infections with antibiotics. Cacchi-Ricci disease MSK Precalicial canalicular ectasia Cacchi Ricci disease Cacchi-Ricci syndrome Precalyceal canalicular ectasia cystic dilatation of renal collecting tubes sponge kidney medullary sponge kidney https://rarediseases.info.nih.gov/diseases/232/medullary-sponge-kidney MONDO:0015269 Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding, and facial diplegia or weakness. bilateral symmetrical thalamic gliosis symmetrical thalamic calcifications https://rarediseases.info.nih.gov/diseases/5070/symmetrical-thalamic-calcifications MONDO:0015270 Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterised by prolonged apnoea after the use of certain anaesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anaesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency. https://github.com/monarch-initiative/mondo/issues/4521 apnea, postanesthetic, susceptibility to, due to BCHE deficiency butyrylcholinesterase deficiency Acholinesterasemia BCHED Suxamethonium sensitivity apnea, postanesthetic butyrylcholinesterase deficiency, fluoride-resistant, Japanese type cholinesterase 2 deficiency hypocholinesterasemia, fluoride-resistant, Japanese type pseudocholinesterase E1 pseudocholinesterase deficiency succinylcholine sensitivity butyrylcholinesterase deficiency MONDO:0015271 Idiopathic camptocormia is a postural disease characterized by an anterior flexion of the torso (during walking or standing) that resolves in the supine position and that is caused by weakness of the lumbar paraspinal muscles (spinal extensors), due to massive fatty infiltrations of posterior spinal muscles, without an identifiable etiology. idiopathic camptocormism idiopathic progressive lumbar kyphosis bent spine bent spine syndrome camptocormia camptocormism idiopathic camptocormia MONDO:0015272 Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966. familial streblodactyly with amino-aciduria camptodactyly taurinuria camptodactyly with taurinuria camptodactyly-taurinuria syndrome MONDO:0015273 Complete atrioventricular canal (CAVC), also referred to as complete atrioventricular septal defect, is characterized by an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the ventricular septum inflow. CAVC complete atrioventricular septal defect complete atrioventricular canal https://rarediseases.info.nih.gov/diseases/1454/complete-atrioventricular-canal MONDO:0015274 Chronic beryllium disease (CBD) is a granulomatous, interstitial lung disease that occurs in individuals who develop beryllium sensitization (BeS), a cell-mediated immune response to environmental and occupational beryllium exposure. BeS precedes the lung disease that may present with chronic dry cough, fatigue, weight loss, chest pain, and increasing dyspnea. berylliosis beryllium poisoning chronic berylliosis chronic beryllium lung disease Beryllliosis Subacute berylliosis acute berylliosis beryllium disease chronic pulmonary berylliosis reversible berylliosis chronic beryllium disease MONDO:0015275 Partial atrioventricular canal (PAVC) is a congenital heart malformation characterized by an atrial septal defect (ASD; ostium primum), clefts of mitral and occasionally tricuspid valves, two separate atrioventricular (AV) valve annuli and an intact ventricular septum. The typical symptoms of PAVC are impaired exercise capacity and exertional dyspnea. PAVC partial atrioventricular canal defect partial AVSD partial atrioventricular septal defects partial common atrioventricular canal partial atrioventricular canal https://rarediseases.info.nih.gov/diseases/4229/partial-atrioventricular-canal MONDO:0015277 A neuroendocrine carcinoma arising from the C-cells of the thyroid gland. It is closely associated with multiple endocrine neoplasia syndromes. Approximately 10% to 20% of medullary thyroid carcinomas are familial. Patients usually present with a thyroid nodule that is painless and firm. In the majority of cases nodal involvement is present at diagnosis. Surgery is the preferred treatment for both primary lesions and recurrences. This carcinoma is generally not very sensitive to radiation and almost unresponsive to chemotherapy. C cell carcinoma MTC carcinoma of parafollicular cell carcinoma, C-cell, malignant medullary carcinoma medullary carcinoma of the thyroid medullary carcinoma of the thyroid gland medullary carcinoma of thyroid medullary carcinoma of thyroid gland medullary thyroid cancer medullary thyroid carcinoma medullary thyroid gland carcinoma parafollicular cell carcinoma thyroid gland medullary cancer thyroid gland medullary carcinoma thyroid gland neuroendocrine carcinoma thyroid medullary carcinoma ultimobranchial thyroid tumor ultimobranchial thyroid tumour THME medullary thyroid cancer (MTC) thyroid cancer, medullary thyroid carcinoma, medullary medullary thyroid gland carcinoma MONDO:0015278 Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives. https://github.com/monarch-initiative/mondo/issues/4521 familial pancreatic cancer familial pancreatic carcinoma hereditary exocrine pancreatic carcinoma hereditary pancreatic cancer hereditary pancreatic carcinoma pancreatic cancer, somatic pancreatic carcinoma, somatic pancreatic acinar carcinoma familial pancreatic carcinoma MONDO:0015279 https://github.com/monarch-initiative/mondo/issues/5661 chronic mucocutaneous candidiasis (disease) CANDF CMC chronic mucocutaneous candidiasis chronic mucocutaneous candidiasis (disease) familial CMC familial candidiasis familial chronic mucocutaneous candidiasis chronic mucocutaneous candidiasis MONDO:0015280 Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability. https://github.com/monarch-initiative/mondo/issues/5588 CFC CFC syndrome cardio-facial-cutaneous syndrome cardiofaciocutaneous (CFC) syndrome cardiofaciocutaneous syndrome cardio-facio-cutaneous syndrome congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure cardiofaciocutaneous syndrome MONDO:0015281 Atrial standstill is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves. atrial cardiomyopathy with heart block atrial standstill MONDO:0015282 Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985. https://github.com/monarch-initiative/mondo/issues/324 Krasnow-Qazi syndrome Krasnow Qazi Yermakov syndrome Krasnow Qazi syndrome cardiomyopathy cataract hip spine disease familial dilated cardiomyopathy associated with cataracts and hip-spine disease cardiomyopathy-cataract-hip spine disease syndrome https://rarediseases.info.nih.gov/diseases/1102/cardiomyopathy-cataract-hip-spine-disease MONDO:0015283 Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance. maternally-inherited cardiomyopathy and deafness tRNA-LYS-related cardiomyopathy-hearing loss syndrome maternally-inherited cardiomyopathy and hearing loss MONDO:0015284 Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation). Tabatznik syndrome atriodigital dysplasia type 2 heart-hand syndrome 2 heart-hand syndrome type 2 MONDO:0015285 Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas. CNC Carney complex Carney syndrome Carney's syndrome Myxoma-spotty pigmentation-endocrine overactivity syndrome NAME syndrome atrial myxoma with lentigines lamb lamb syndrome lentigines, atrial myxoma, mucocutaneous myoma, blue Nevus syndrome nevi, atrial myxoma, skin myxoma, ephelides syndrome Carney Complex, type 1 Carney Complex, type 2 Myxoma - spotty pigmentation - endocrine overactivity Carney complex MONDO:0015286 Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation. https://github.com/monarch-initiative/mondo/issues/4069 CDG carbohydrate deficient glycoprotein syndrome carbohydrate-deficient glycoprotein syndrome congenital disorder of glycosylation carbohydrate-deficient glycoprotein syndromes congenital disorders of glycosylation congenital disorder of glycosylation MONDO:0015288 A superficial, epithelial Herpesvirus hominis infection of the cornea, characterized by the presence of small vesicles which may break down and coalesce to form dendritic ulcers (keratitis, dendritic). (Dictionary of Visual Science, 3d ed) HSV keratitis Simplexvirus caused keratitis Simplexvirus keratitis dendritic keratitis herpetic keratitis herpes simplex virus keratitis MONDO:0015289 Infectious epithelial keratitis is a rare, potentially sight-threatening, acquired ocular disease chracterized by corneal epithelium inflammation resulting from viral (mainly Herpes Simplex virus), bacterial, fungic or protist infection, manifesting with variable symptoms, such as conjunctival hyperemia, lacrimation, rapid onset of pain, blurred vision and/or photophobia, depending on the causative agent. infectious epithelial keratitis MONDO:0015290 Neurotrophic keratopathy is a rare degenerative disease of the cornea characterized by reduction or loss of corneal sensitivity that can be asymptomatic or present with red-eye and, during the early stages of the disease, a minor decrease in visual acuity. It eventually leads to loss of vision. neurotrophic keratitis neurotrophic keratopathy MONDO:0015291 Herpes simplex (HSV) stromal keratitis is an infectious ocular disease of either necrotizing or non-necrotizing form, due to an HSV infection, and characterized by corneal stromal necrosis, inflammation, ulceration and infiltration by leukocytes. Corneal perforation and blindness can also occur in severe cases. stromal keratitis MONDO:0015292 An inflammatory disease involving a pathogenic inflammatory response in the endothelium. endothelium inflammation inflammation of endothelium endotheliitis MONDO:0015293 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome is a rare, genetic, polymalformative syndrome characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer. SOLAMEN syndrome segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome MONDO:0015294 Nephrogenic systemic fibrosis (NSF) is a rare systemic fibrosing condition observed in renally impaired patients and characterized by a hardening and thickening of the skin with fibrotic plaques or papules, pruritus, joint pain and stiffness, muscle weakness, limitation of range of motion, and yellowed eyes. It is generally associated with administration of gadolinium-based magnetic resonance imaging contrast agents (GBCA) in patients with kidney disease. nephrogenic fibrosing dermopathy NFD NSF nephrogenic systemic fibrosis https://rarediseases.info.nih.gov/diseases/9725/nephrogenic-systemic-fibrosis MONDO:0015295 Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterised by the association of intractable diarrhoea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhoea of infancy described previously. intractable diarrhea-choanal atresia-eye anomalies syndrome MONDO:0015296 Cardiac anomalies-heterotaxy syndrome is characterised by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported. cardiac anomalies-heterotaxy syndrome MONDO:0015298 pellucid marginal degeneration https://rarediseases.info.nih.gov/diseases/11895/pellucid-marginal-degeneration MONDO:0015299 Asherman syndrome intrauterine adhesions intrauterine synechiae Asherman's syndrome uterine synechiae Asherman syndrome MONDO:0015300 Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism. cataract microcornea syndrome microcornea cataract syndrome cataract - microcornea syndrome https://rarediseases.info.nih.gov/diseases/1155/cataract-microcornea-syndrome MONDO:0015301 Cutaneous amyloidosis refers to a variety of skin diseases characterized histologically by the extracellular accumulation of amyloid deposits in the dermis. Rare forms include lichen amyloidosus, X-linked reticulate pigmentary disorder, primary localized cutaneous nodular amyloidosis, and macular amyloidosis. primary localized cutaneous amyloidosis PLCA familial primary localized cutaneous amyloidosis amyloidosis IX amyloidosis familial cutaneous lichen amyloidosis, primary localized cutaneous lichen amyloidosis familial primary cutaneous amyloidosis https://rarediseases.info.nih.gov/diseases/132/primary-cutaneous-amyloidosis MONDO:0015302 Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare form of primary cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. PLCNA can be associated with connective tissue disorders such as SjC6grenBs syndrome and CREST syndrome. PLCNA amyloidosis nodular localized cutaneous primary localized cutaneous nodular amyloidosis NLCA amyloidosis cutis nodularis atrophicans nodular cutaneous amyloidosis https://rarediseases.info.nih.gov/diseases/10562/amyloidosis-nodular-localized-cutaneous MONDO:0015303 Macular amyloidosis (MA) is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by pruritic hyperkeratotic gray-brown macules that give a rippled or reticulated pattern of pigmentation usually in the upper back and extensor sites of arms, forearms and legs, and histologically by the deposition of amyloid in the upper dermis and close to the basal cell layer of the epidermis. MA is commonly associated with other skin diseases, such as atopic dermatitis. macular amyloidosis MONDO:0015304 Arachnoiditis (ARC) is a chronic inflammation of the arachnoid layer of the meninges, of which adhesive arachnoiditis is the most severe form, characterized by debilitating, intractable neurogenic back and limb pain and a range of other neurological problems. adhesive arachnoiditis arachnoid mater inflammation chronic arachnoiditis inflammation of arachnoid mater arachnoiditis MONDO:0015306 Lemierre syndrome is a rare, potentially lethal, oropharyngeal infectious disease occurring in immunocompetent adolescents and young adults that is mainly due to Fusobacterium necrophorum and that is characterized by septic thrombophlebitis of the internal jugular vein that leads to septic, usually pulmonary, embolism, associated with ENT (ear, nose, and throat) infection that manifests with fever, neck pain, and tonsillopharyngitis. Lemierre postanginal sepsis Lemierre syndrome human necrobacillosis postanginal sepsis postanginal sepsis secondary to orophyngeal infection septic phlebitis of the internal jugular vein Lemierre's syndrome acute sore throat necrobacillosis oropharyngeal infection leading to secondary septic thrombophlebitis of the internal jugular vein Lemierre syndrome https://rarediseases.info.nih.gov/diseases/6882/lemierre-syndrome MONDO:0015307 Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss. MMND Madras motor neuron disease MONDO:0015308 Laminopathy, type Decaudain-Vigouroux is characterised by severe metabolic alterations (insulin resistance or hyperinsulinaemia, hypertriglyceridaemia with low HDL-cholesterol, and altered glucose tolerance) and muscular hypertrophy, myalgia, or weakness. https://github.com/monarch-initiative/mondo/issues/5723 laminopathy with severe metabolic syndrome and myopathy laminopathy type Decaudain-Vigouroux MONDO:0015310 syndromic optic nerve hypoplasia MONDO:0015311 This syndrome is characterised by the presence of a unilateral angioma on the face and autistic developmental problems characterised by language delay and atypical social interactions. autism with port-wine stain autism-facial port-wine stain syndrome https://rarediseases.info.nih.gov/diseases/10303/autism-with-port-wine-stain MONDO:0015312 Unilateral choanal atresia is a, usually sporadic, congenital anomaly that is more commonly seen in females than in males (2:1), where the nose is blocked by bony or soft tissue formed during embryologic development on only one side (more commonly on the right side) and which is characterized by nasal obstruction and rhinorrhea, usually presenting at birth but that may go undetected until a respiratory infection aggravates the condition. choanal atresia, unilateral MONDO:0015313 Bilateral choanal atresia is a congenital anomaly that is usually sporadic (but some familial cases have been reported), is more commonly seen in females than in males (2:1), and where the nose is blocked on both sides by bony or soft tissue formed during embryological development. It is characterized by respiratory distress relieved by crying and rhinorrhea that presents at birth. choanal atresia, bilateral MONDO:0015314 Primary laryngeal lymphangioma is a rare, benign, congenital malformation of the lymphatic system characterized by a polypoidal, variable-sized, soft tissue mass located in the larynx. Most lesions manifest by the 2nd year of life and, depending on the size, patients may present with changes in voice, dysphagia, stridor, airway obstruction and/or respiratory distress. Cystic hygroma of the neck is frequently associated. primary laryngeal lymphangioma MONDO:0015315 Neonatal brainstem dysfunction is a rare neurologic disease characterized by the association of suction-swallowing dysfunction, abnormal laryngeal sensitivity and motility (manifesting with dyspnea or obstructive apnea-hypopnea), gastroesophageal reflux (generally resistant to medication) and cardiac vagal overactivity (e.g. brachycardia, vasovagal episodes) of varying degrees of severity. Impaired social interaction has also been reported. neonatal brainstem dysfunction MONDO:0015316 Congenital laryngeal palsy is a rare larynx anomaly characterized by unilateral or bilateral paralysis of the vocal cords as a result of dysfunction of the motor nerve supply to the larynx. Patients typically present at birth (or shortly thereafter) with stridor, weak or breathy cry, dysphonia or aphonia, feeding or aspiration difficulties and, occasionally, respiratory compromise. Neurological disease, masses that cause compression and aberrant vessels are often associated. Most cases resolve spontaneously over 6-12 months. https://github.com/monarch-initiative/mondo/issues/4069 congenital vocal cord paralysis congenital laryngeal palsy https://rarediseases.info.nih.gov/diseases/12713/congenital-laryngeal-palsy MONDO:0015317 laryngotracheal angioma MONDO:0015323 teratogenic Pierre Robin sequence teratogenic Pierre Robin syndrome MONDO:0015324 Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterised by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies. https://github.com/monarch-initiative/mondo/issues/5588 Karandikar-Maria-Kamble syndrome Karandikar Maria Kamble syndrome cataract intellectual disability anal atresia urinary defects cataract mental retardation anal atresia urinary defects congenital cataract with multiple congenital anomalies in a sibship cataract-intellectual disability-anal atresia-urinary defects syndrome MONDO:0015325 Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995. https://github.com/monarch-initiative/mondo/issues/4324 https://github.com/monarch-initiative/mondo/issues/5588 Schaap-Taylor-Baraitser syndrome cataracts, sensorineural deafness, hypogonadism, hypertrichosis and short stature cataract-deafness-hypogonadism syndrome MONDO:0015326 This syndrome is characterized by night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facies (periorbital anomalies, malar flatness, retrognathia). Hunter-Thompson-Reed syndrome Hunter Thompson Reed syndrome night blindness-skeletal anomalies-dysmorphism syndrome https://rarediseases.info.nih.gov/diseases/3994/night-blindness-skeletal-anomalies-dysmorphism-syndrome MONDO:0015327 developmental anomaly of metabolic origin MONDO:0015330 overgrowth/obesity syndrome MONDO:0015333 A group of rare genetic disorders which mimic physiological aging, making affected individuals appear to be older than they are. progeroid syndrome MONDO:0015334 branchial arch or oral-acral syndrome MONDO:0015335 https://github.com/monarch-initiative/mondo/issues/5665 orofacial clefting syndrome Mendelian syndromes with cleft lip/palate MONDO:0015337 A craniosynostosis that is not part of a larger syndrome. nonsyndromic craniosynostosis isolated craniosynostosis MONDO:0015338 A craniosynostosis that is part of a larger syndrome. https://github.com/monarch-initiative/mondo/issues/4948 syndrome associated with craniosynostosis syndromic craniosynostosis syndromic craniosynostosis MONDO:0015339 An adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males. Both males and females can be affected with AMN. https://github.com/monarch-initiative/mondo/issues/2632 AMN adrenomyeloneuropathy adrenomyeloneuropathy MONDO:0015340 DRESS syndrome (Drug Rash with Eosinophilia and Systemic Symptoms) is a hypersensitivity reaction characterized by a generalized skin rash, fever, eosinophilia, lymphocytosis and visceral involvement (hepatitis, nephritis, pneumonitis, pericarditis and myocarditis) and, in some patients, reactivation of human herpes virus 6. https://github.com/monarch-initiative/mondo/issues/5537 dress syndrome drug reaction eosinophilic systemic syndrome drug rash with eosinophilia and systemic symptoms MONDO:0015341 Congenital panfollicular nevus is a rare, benign, skin tumor disorder characterized by the presence of congenital, large (few centimeters), elevated, well-circumscribed, pink-tan, multinodular, non-ulcerative, bosselated-surface skin lesions located on the neck, scalp or hand and which enlarge with time. Histologically, hamartomatous proliferation containing irregularly arranged, malformed hair follicles in various stages of development, surrounded by fibrous tissue and densely distributed within the dermis is observed. https://github.com/monarch-initiative/mondo/issues/4069 congenital panfollicular nevus (disease) congenital panfollicular nevus congenital panfollicular nevus (disease) congenital panfollicular nevus MONDO:0015342 Acute transverse myelitis (ATM) is an inflammatory demyelinating disorder of the spinal cord that can be either idiopathic (IATM) or secondary to a known cause (SATM). acute transverse myelitis MONDO:0015343 Secondary acute transverse myelitis (ATM) is characterized by focal inflammation within the spinal cord due to a known cause, usually an inflammatory disease. disease-associated transverse myelitis secondary acute transverse myelitis MONDO:0015344 Idiopathic acute transverse myelitis (ATM) is an immune-mediated inflammatory demyelinating disorder of the spinal cord with motor, sensory and autonomic involvement. ATM/TM idiopathic acute transverse myelitis MONDO:0015345 Perioral myoclonia with absences is a rare epilepsy syndrome characterized by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalized tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome. POMA perioral myoclonia with absences MONDO:0015346 Jeavons syndrome is an idiopathic generalized form of reflex epilepsy characterized by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalized tonic-clonic seizures. https://github.com/monarch-initiative/mondo/issues/4614 EMEA epilepsy with eyelid myoclonias eyelid myoclonia with and without absences Jeavons syndrome MONDO:0015347 Multicentric reticulohistiocytosis (MRH) is a rare non-Langerhans cell histiocytosis characterized by the association of specific nodular skin lesions and destructive arthritis. giant cell histiocytomatosis lipoid dermatoarthritis multicentric reticulohistiocytosis multicentric reticulohistiocytosis https://rarediseases.info.nih.gov/diseases/7103/multicentric-reticulohistiocytosis MONDO:0015348 Leukoencephalopathy with bilateral anterior temporal lobe cysts is a nonprogressive neurological disorder marked by intellectual deficit, spasticity and motor retardation associated with characteristic MRI findings of anterior bilateral temporal lobe cysts and multilobar leukoencephalopathy. So far, around 30 cases have been reported in the literature. Onset occurs in the first few months of life. Sensorineural deafness and microcephaly have also been reported. The etiology is unknown but an autosomal recessive mode of inheritance has been suggested. leukoencephalopathy with bilateral anterior temporal lobe cysts MONDO:0015349 Progressive cavitating leukoencephalopathy is characterized by acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability. progressive cavitating leukoencephalopathy MONDO:0015350 17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit. https://github.com/monarch-initiative/mondo/issues/3492 https://github.com/monarch-initiative/mondo/issues/4337 Grisart-Destree syndrome Grisart-Destrée syndrome Nf1 Microduplication Syndrome chromosome 17q11.2 duplication syndrome, 1.4-mb dup(17)(q11.2) trisomy 17q11.2 17q11.2 microduplication syndrome MONDO:0015351 This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy. neuropathy with hearing impairment MONDO:0015352 dHMN2 dSMA2 distal spinal muscular atrophy type 2 distal hereditary motor neuropathy type 2 MONDO:0015353 distal hereditary motor neuropathy type V distal spinal muscular atrophy type 5 neuronopathy, distal hereditary motor, type 5 HMN 5A HMN5A dHMN 5A dHMN5 neuronopathy, distal hereditary motor, type 5A neuronopathy, distal hereditary motor, type VA neuropathy, distal hereditary motor, type 5A spinal muscular atrophy, distal, type 5 spinal muscular atrophy, distal, type 5A spinal muscular atrophy, distal, with upper limb predominance distal HMN V neuronopathy, distal hereditary motor, type 5A MONDO:0015354 This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay. HSAN with deafness and global delay hereditary sensory and autonomic neuropathy with deafness and global delay MONDO:0015355 Distal hereditary motor neuropathy type 7 is a rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness. dHMN7 distal spinal muscular atrophy with vocal cord paralysis distal hereditary motor neuropathy type 7 MONDO:0015356 The inherited predisposition toward getting a tumor. https://github.com/monarch-initiative/mondo/issues/5046 cancer syndrome, hereditary cancer syndromes, hereditary familial neoplastic syndrome familial tumor syndrome hereditary cancer syndrome hereditary cancer syndromes hereditary neoplastic syndrome hereditary neoplastic syndromes hereditary tumor syndrome inherited cancer syndrome inherited cancer-predisposing syndrome neoplastic syndrome, hereditary syndrome, hereditary cancer syndrome, hereditary neoplastic syndromes, hereditary cancer syndromes, hereditary neoplastic hereditary neoplastic syndrome MONDO:0015357 secondary hypoparathyroidism due to impaired parathormon secretion MONDO:0015358 A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-Tooth DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343) HMSN hereditary motor and sensory neuropathy MONDO:0015359 AD demyelinating HMSN autosomal dominant hereditary demyelinating motor and sensory neuropathy MONDO:0015360 https://github.com/monarch-initiative/mondo/issues/5114 2022-09-01 Reason: out of scope. MONDO:excludeGroupingClass. Term to consider:MONDO:0005244 peripheral neuropathy autosomal dominant hereditary axonal motor and sensory neuropathy MONDO:0015361 AR demyelinating HMSN autosomal recessive hereditary demyelinating motor and sensory neuropathy MONDO:0015362 Autosomal dominant form of distal hereditary motor neuropathy. autosomal dominant dHMN autosomal dominant distal hereditary motor neuropathy autosomal dominant distal spinal muscular atrophy distal hereditary motor neuropathy, autosomal dominant autosomal dominant distal hereditary motor neuropathy MONDO:0015363 Autosomal recessive form of distal hereditary motor neuropathy. autosomal recessive dHMN autosomal recessive dSMA autosomal recessive distal spinal muscular atrophy distal hereditary motor neuropathy, autosomal recessive autosomal recessive distal hereditary motor neuropathy MONDO:0015364 An instance of sensory peripheral neuropathy that is caused by an inherited modification of the individual's genome. https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/25 familial dysautonomia, type II CIP HSAN congenital insensitivity to pain congenital pain insensitivity hereditary sensory and autonomic neuropathy hereditary sensory neuropathy hereditary sensory peripheral neuropathy indifference to pain, Congenital, autosomal recessive hereditary sensory autonomic neuropathy hereditary sensory and autonomic neuropathy MONDO:0015365 Autosomal dominant form of hereditary sensory and autonomic neuropathy. hereditary sensory and autonomic neuropathy, autosomal dominant autosomal dominant hereditary sensory and autonomic neuropathy MONDO:0015366 Autosomal recessive form of hereditary sensory and autonomic neuropathy. hereditary sensory and autonomic neuropathy, autosomal recessive autosomal recessive hereditary sensory and autonomic neuropathy MONDO:0015367 Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia-hypodactyly and glossopalatine ankylosis. The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present with hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions in the literature since 1976. Charlie M syndrome https://rarediseases.info.nih.gov/diseases/1261/charlie-m-syndrome MONDO:0015368 neuro-ophthalmological disease MONDO:0015369 Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the "molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa. JSRD Joubert syndrome and related disorders Joubert syndrome and related disorders MONDO:0015371 Linear atrophoderma of Moulin (LAM) is characterized by mildly atrophic and hyperpigmented band-like lesions that follow the lines of Blaschko on the trunk or limbs. Since its initial description in 1992, less than 30 cases have been reported in the literature. Onset occurs during childhood or adolescence and the disease is non-progressive. There is no prior inflammation or subsequent scleroderma. The aetiology is unknown but as LAM follows the lines of Blaschko it has been suggested that the disease is caused by mosaicism of a predisposing gene. linear atrophoderma of Moulin MONDO:0015372 This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets. autosomal dominant macrothrombocytopenia MONDO:0015374 PACNS PCNSV isolated angiitis of the central nervous system primary angiitis of the central nervous system primary central nervous system vasculitis primary vasculitis of the central nervous system granulomatous angiitis of the central nervous system primary CNS vasculitis primary central nervous system vasculitis https://rarediseases.info.nih.gov/diseases/8703/primary-angiitis-of-the-central-nervous-system MONDO:0015375 Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait. OFD oral-facial-digital syndrome orofaciodigital syndrome oral facial digital syndromes oral-facial-digital syndromes orofaciodigital syndromes orofaciodigital syndrome MONDO:0015376 first branchial cleft cyst first branchial cleft fistula first branchial cleft anomaly MONDO:0015377 third branchial cleft cyst third branchial cleft fistula third branchial cleft anomaly MONDO:0015378 fourth branchial cleft cyst fourth branchial cleft fistula fourth branchial cleft anomaly MONDO:0015379 Cervical dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue which usually manifests as a slow-growing, painless mass in the submandibular or sublingual space. Depending on the location, and especially after sudden enlargement, it can cause dyspnea, dysphagia or dysphonia. dermoid cyst of the neck cervical dermoid cyst MONDO:0015380 Facial dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue, which usually manifests as a firm, nonpulsatile mass, often with a sinus opening or a hair-bearing punctum, most commonly located in the periorbital and nasal area. dermoid cyst of the face facial dermoid cyst MONDO:0015381 A cysts and fistulae of the face and oral cavity that involves the labial commissure. cysts and fistulae of the face and oral cavity of labial commissure labial commissure cysts and fistulae of the face and oral cavity commissural lip fistula MONDO:0015382 A cysts and fistulae of the face and oral cavity that involves the lower lip. cysts and fistulae of the face and oral cavity of lower lip lower lip cysts and fistulae of the face and oral cavity lower lip fistula MONDO:0015383 cervicofacial enchondroma cervicofacial fibrochondroma MONDO:0015384 Digestive duplication cyst of the tongue is an extremely rare otorhinolaryngological malformation which occurs during early embryogenesis and is characterized by a single, and on occasion multiple, cystic lesion that is most frequently located in the anterior portion of the tongue, either deeply embedded within it or superficially on it. Depending mostly on size and location of the cyst, patients could be asymptomatic or could present a wide array of symptoms, such as varying degrees of respiratory and feeding difficulties, lingual swelling and protrusion, dysphagia, and more rarely, recurrent bleeding or brownish discharge from a lingual sinus. cysts and fistulae of the face and oral cavity of tongue enteric duplication cyst of the tongue foregut duplication cyst of the tongue gastric duplication cyst of the tongue tongue cysts and fistulae of the face and oral cavity digestive duplication cyst of the tongue MONDO:0015385 external auditory canal stenosis/atresia external auditory canal aplasia/hypoplasia MONDO:0015386 Epignathus is a very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. Epignathus is more commonly seen in females, and presents with various manifestations (depending on the tumor size) including obstructive polyhydramnios in the prenatal period and dyspnea, cyanosis, cough, difficulty in sucking and swallowing, and rarely vomiting (due to swallowing difficulties) postnatally. When large, they can lead to airway obstruction, asphyxia and death in the neonatal period. epignathus (disease) Epignathus epignathus (disease) oropharyngeal teratoma epignathus MONDO:0015387 Nasolacrimal duct cyst describes a unilateral or bilateral congenital cyst of the nasolacrimal duct, which is almost always associated with dacryocystocele, presenting most commonly at birth or a few weeks of age (but rarely presenting in adulthood) as a benign, grayish blue mass in the inferomedial canthus or in the nasal cavity, that can cause epiphora, dacryocystitis (inflammation of the lacrimal sac) and nasal obstruction. It is more commonly reported in females. dacryocele nasolacrimal mucocele dacryocystocele nasolacrimal duct cyst MONDO:0015388 Polyrrhinia is an extremely rare, major congenital malformation characterized by complete duplication of the nose resulting in twofully developed noses often associated with choanal atresia, causing respiratory distress and necessitating surgical repair. Double nose Polyrhinia polyrrhinia MONDO:0015389 Supernumerary nostril is an extremely rare congenital malformation characterized by the presence of one or more accessory nostrils, with or without accessory cartilage, located medially, above, below or laterally to the other nostrils. Unlike in polyrhinia there is no duplication of the nasal septum/cavity. Supernumerary nostril is often associated with other congenital malformations usually of face. accessory nostril supernumerary naris supernumerary nostril MONDO:0015390 Proboscis lateralis (PL) is a rare congenital facial abnormality characterized by failed development of the external nose on one side that is replaced by a tubular structure composed of skin and soft tissue usually attached at the inner canthus of the eye and therefore often associated with maldevelopment of the nasal cavity or paranasal sinuses of the affected side. PL is also associated with other craniofacial abnormalities such as orbital anomalies, cleft lip/palate, frontal encephalocele and holoprosencephaly. congenital tubular nose proboscis lateralis MONDO:0015391 A teratoma that involves the nasopharynx. nasopharynx teratoma teratoma of the nasopharynx nasopharyngeal teratoma MONDO:0015392 Nasal glial heterotopia is a rare developmental abnormality presenting usually at birth or in early childhood (rarely in adulthood) as a benign, non-pulsatile mass that can lead to nasal obstruction, deformation of the septum and nasal bone, and respiratory distress if untreated. Nasal glial heterotopias have no communication with the central nervous system; however an associated defect in the cribriform plate is sometimes reported. nasal glioma nasal glial heterotopia MONDO:0015393 Nasal ganglioglioma is a rare tumor, presenting in newborns, containing both neuronal and astrocytic components and that can be endonasal, extranasal or both. It is usually identified as a nasal mass that may cause feeding difficulties and nasal obstruction. nasal ganglioglioma MONDO:0015394 Nasal encephalocele is an extracranial herniation of intracranial contents (that maintain a connection to the subarachnoid space) into the fonticulus frontalis, presenting with nasal broadening and/or as a compressible, blue, pulsatile mass near the nasal bridge (that enlarges on crying or with jugular vein compression) or as an intranasal mass originating in the cribiform plate and that can cause nasal obstruction or respiratory distress. Hydrocephalus and increased intracranial pressure are also reported in some cases. nasal encephalocele MONDO:0015395 https://github.com/monarch-initiative/mondo/issues/4069 congenital subglottic stenosis MONDO:0015396 Congenital laryngeal cyst is a rare larynx anomaly characterized by a cyst involving the larynx or supraglottis locations, such as the epiglottis and vallecula. Timing and severity of presentation depend on the size of the cyst and its proximity to the glottis and range from severe prenatal airway obstruction leading to polyhydramnios and pulmonary hypoplasia to postnatal inspiratory stridor associated with muffled cry, hoarseness and cyanotic episodes, and to feeding difficulties and failure to thrive. It can be associated with laryngomalacia. https://github.com/monarch-initiative/mondo/issues/4069 congenital laryngeal cyst MONDO:0015397 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 Expanded spectrum hemifacial microsomia Expanded spectrum of hemifacial microsomia Goldenhar disease Goldenhar syndrome OAV (oculoauriculovertebral) dysplasia OAV dysplasia OAV spectrum OAVS craniofacial microsomia facio-auriculo-vertebral spectrum facioauriculovertebral dysplasia first and second branchial arch syndrome first arch syndrome oculoauriculovertebral dysplasia oculoauriculovertebral syndrome unilateral or bilateral and asymmetric otomandibular dysplasia Fav sequence HFM OAVD facioauriculovertebral sequence hemifacial microsomia oculo-auriculo-vertebral dysplasia oculoauriculovertebral spectrum oculo-auriculo-vertebral spectrum https://rarediseases.info.nih.gov/diseases/12074/oculo-auriculo-vertebral-spectrum MONDO:0015398 Laterofacial microsomia first branchial arch syndrome otomandibular dysostosis otomandibular syndrome hemifacial microsomia MONDO:0015399 Glossopalatine ankylosis is a disorder belonging to the group of oromandibular-limb hypogenesis syndromes (OLHS) and is characterised by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge. Cosack syndrome glossopalatine ankylosis MONDO:0015400 Frontonasal arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the frontonasal area. It may present with intermittent nasal bleeding, blurred vision, pustule formation and/or disfigurement. Overlying skin may be of normal appearance or may manifest a red, pulsatile mass with local rise of temperature. Other features may include pain, ulceration, excessive growth and/or congestive heart failure. frontonasal arteriovenous malformation MONDO:0015401 Maxillary arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the maxillofacial area, usually presenting with chronic, intermittent, and potentially life-threatening, hemorrhage. Association with infection, pain, pressure, pulsation, swelling, facial asymmetry, headache, ocular pain, tinnitus, otalgia, epistaxis, toothache and/or teeth mobility and compressibility into their sockets is possible, although it may also be asymptomatic. arteriovenous malformation of maxilla maxillary arteriovenous malformation MONDO:0015402 Mandibular arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the mandibular area, commonly presenting with minor gingival bleeding, dental loosening, lower lip numbness, facial deformity and malocclusion. This usually high-flow vascular malformation may also present with potentially life-threatening, spontaneous, or tooth extraction-induced, hemorrhagic shock. arteriovenous malformation of mandible mandibular arteriovenous malformation MONDO:0015403 Non-involuting congenital hemangioma (NICH) is a rare type of infantile hemangioma, which is a tumor that forms from the abnormal growth of blood vessels in the skin. NICH looks like an oval,purplish mark or bump that can occur on any part of the body. NICH is present from birth (congenital) and increases in size as the child grows. Unlike other hemangiomas, NICH do not disappear spontaneously (involute). https://github.com/monarch-initiative/mondo/issues/4069 NICH noninvoluting congenital hemangioma non-involuting congenital hemangioma https://rarediseases.info.nih.gov/diseases/10890/non-involuting-congenital-hemangioma MONDO:0015404 Rapidly involuting congenital hemangiomas (RICH) are a distinctive type of congenital hemangioma that are fully formed in utero and differ from non-involuting congenital haemangiomas (NICH) mainly because they undergo rapid postnatal involution. https://github.com/monarch-initiative/mondo/issues/4069 rich rapidly involuting congenital hemangioma MONDO:0015405 A disorder characterized by vascular malformations that encompasses a spectrum of phenotypic expression involving arteriovenous malformations (AVMs) of the cerebral, orbital, and facial region. CAMS cerebrofacial arteriovenous metameric syndrome MONDO:0015406 CAMS1 cerebrofacial arteriovenous metameric syndrome type 1 MONDO:0015407 CAMS3 cerebrofacial arteriovenous metameric syndrome type 3 MONDO:0015408 A rare developmental defect during embryogenesis characterized by multifocal dilated lymphatic vessels involving multiple organs and tissues. Patients mostly present in infancy and childhood. Clinical course and prognosis depend on the affected sites and extent of the condition, deterioration of lung function being a major cause of morbidity and mortality. Gla diffuse lymphangioma diffuse lymphangiomatosis disseminated lymphangioma disseminated lymphangiomatosis disseminated lymphatic malformation generalized lymphatic anomaly diffuse lymphatic malformation MONDO:0015409 Isolated congenital syngnathia is a very rare developmental defect during embryogenesis characterized by varying degrees of congenital fusion (ranging from simple mucosal adhesions to extensive bony fusion) of mandible to maxilla that is not associated with any other malformations. Patients present with mouth opening limitation (which could range from severe to minimal restriction) that typically results in feeding, swallowing and/or respiratory difficulties which may lead to failure to thive, malnutrition and/or temporomandibular joint ankylosis. https://github.com/monarch-initiative/mondo/issues/4069 isolated congenital maxillomandibular fusion isolated congenital syngnathia MONDO:0015410 nasal dorsum fistula/cyst MONDO:0015411 A congenital abnormality consisting of an opening or gap in the face, which results from incomplete fusion of one or more of the embryonic facial prominences. cleft face craniofacial cleft prosoposchisis facial cleft MONDO:0015412 Midline facial cleft Tessier number 0-14 and 30 facial cleft median facial cleft MONDO:0015413 Median cleft of the upper lip and maxilla is a rare, congenital, developmental defect during embryogenesis characterized by a midline vertical cleft through the upper lip and premaillary bone (can also involve the nasal septum and central nervous system). The phenotypic spectrum is highly variable (ranging from a simple vermillion notch to a wide complete cleft) and hypo/hypertelorism, telecanthus, monophthalmia, flat or cleft nose, wide columella, median alveolar cleft and cranial malformations may be associated. median cleft of the upper lip and maxilla MONDO:0015414 Paramedian nasal cleft is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral coloboma of the nose, ranging in severity from a small notch, resulting in minor deviation of the nasal septum, to variable-sized clefts of the nasal ala which may be associated with small cysts or sinuses in the nasal midline. Defect may be isolated or may occur in association with cleft lip and/or other craniofacial anomalies (e.g. hypertelorism, broadening of nasal root, midline cleft). Dorsum and apex of nose are usually well preserved. Tessier number 1 cleft alar cleft alar rim cleft cleft nose isolated cleft of the ala nasi isolated coloboma of the nose paramedian nasal cleft MONDO:0015415 Orbitofacial cleft oblique facial cleft MONDO:0015416 Tessier number 5 facial cleft MONDO:0015417 Tessier number 6 facial cleft MONDO:0015418 Tessier number 7 facial cleft transverse facial cleft lateral facial cleft MONDO:0015419 Midline cervical cleft (MCC) is a rare congenital anomaly characterized by the presence at birth of a vertical, atrophic and usually erythematous skin defect, lacking adnexal elements in the midline of the neck that may be attached to a subcutaneous fibrous cord of variable length; a superior skin tag; and an inferior, short (usually about 1 cm in length) sinus (possibly with presence of discharge). If untreated (by surgical removal) complications include restriction of neck extension due to contracture and scarring. It is sometimes associated with other developmental defects such as bifid mandible, thyroglossal duct and branchial cysts, and microgenia. midline cervical cleft MONDO:0015420 Cleft lip and alveolus is a fissure type embryopathy that involves the upper lip, nasal base and alveolar ridge in variable degrees. cleft lip and alveolus MONDO:0015421 Orofaciodigital syndrome type 12 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (septum hypertrophy) and central nervous system abnormalities (myelomeningocele, Sylvius aqueduct stenosis, corpus callosum agenesis, vermis hypoplasia), in addition to oral, facial and digital malformations (gingival frenulae, bifid tongue, supernumerary teeth, macrocephaly, hypertelorism, pre- and post-axial polydactyly in hands, preaxial polydactyly in feet and club feet). Skeletal anomalies, such as short tibiae and central, Y-shaped metacarpals, are also associated. Moran-Barroso syndrome OFD12 oral-facial-digital syndrome type 12 OFDS 12 oral facial digital syndrome 12 oral facial digital syndrome type 12 oral-facial-digital syndrome 12 orofaciodigital syndrome 12 orofaciodigital syndrome XII orofaciodigital syndrome type 12 MONDO:0015422 Orofaciodigital syndrome type 13 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (mitral and tricuspid valve dysplasia) and neuropsychiatric manifestations (epilepsy, depression), in addition to oral, facial and digital malformations (lingual hamartomas, cleft lip, and brachydactyly, clinodactyly, syndactyly of hands and feet). Leukoaraiosis, on brain MRI examination, is also associated. Degner syndrome OFD13 oral-facial-digital syndrome type 13 OFD syndrome 13 OFDS 13 oral facial digital syndrome 13 oral facial digital syndrome type 13 oral-facial-digital syndrome 13 oral-facial-digital syndrome XIII orofaciodigital syndrome 13 orofaciodigital syndrome XIII orofaciodigital syndrome type 13 MONDO:0015424 Moerman-Vandenberghe-Fryns syndrome lethal chondrodysplasia Moerman type lethal chondrodysplasia, Moerman type https://rarediseases.info.nih.gov/diseases/3225/lethal-chondrodysplasia-moerman-type MONDO:0015425 Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988. Maroteaux-Stanescu-Cousin syndrome chondrodysplasia lethal recessive lethal recessive chondrodysplasia https://rarediseases.info.nih.gov/diseases/1294/chondrodysplasia-lethal-recessive MONDO:0015426 Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant, has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies. DBQD Desbuquois dysplasia desbuquois syndrome micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification Desbuquois dysplasia MONDO:0015427 Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome). paroxysmal choreoathetosis paroxysmal dystonic choreoathetosis paroxysmal dyskinesia MONDO:0015428 Choroidal atrophy - alopecia is a very rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails. Moloney syndrome regional choroidal atrophy and alopecia choroidal atrophy alopecia fine hair, absent/decreased lashes, absent/decreased eyebrows, visual loss-mild/suspected, dysplastic/thick/grooved toenails and fingernails choroidal atrophy-alopecia syndrome MONDO:0015429 CHM-hypopituitarism syndrome choroideremia-hypopituitarism syndrome MONDO:0015430 Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly. Ring 1 Ring chromosome type 1 r(1) syndrome R1 Ring chromosome 1 syndrome chromosome 1 ring chromosome 1, ring ring chromosome 1 MONDO:0015431 Ring chromosome 10 syndrome is characterized by intellectual deficit, growth retardation, and various dysmorphic features. Less than 20 cases have been described. The main features are low birth weight, microcephaly, stubby nose with a prominent nasal bridge, hypertelorism, strabismus, wide-set nipples, single transverse palmar creases, and clinodactyly. Boys have undescended testes and hypoplastic scrotum. Congenital heart disease, hydronephrosis or renal hypoplasia was present in some of the cases. https://github.com/monarch-initiative/mondo/issues/5588 Ring chromosome type 10 Ring 10 Ring chromosome 10 syndrome chromosome 10 ring r10 ring chromosome 10 https://rarediseases.info.nih.gov/diseases/1322/ring-chromosome-10 MONDO:0015432 Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (incl. epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy have also been reported. Ring chromosome type 12 R12 Ring 12 Ring chromosome 12 syndrome chromosome 12 ring ring chromosome 12 https://rarediseases.info.nih.gov/diseases/1325/ring-chromosome-12 MONDO:0015433 Ring chromosome 17 syndrome is a rare chromosomal anomaly syndrome, resulting from partial deletion of chromosome 17, characterized by highly variable manifestations, ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), café-au-lait spots, retinal flecks and minor facial dysmorphism, depending on the presence or absence of the Miller-Dieker critical region. Ring chromosome type 17 R17 Ring 17 Ring chromosome 17 syndrome chromosome 17 ring ring chromosome 17 https://rarediseases.info.nih.gov/diseases/4724/ring-chromosome-17 MONDO:0015434 Ring chromosome 18 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics. Ring chromosome type 18 R18 Ring 18 Ring chromosome 18 syndrome chromosome 18 ring ring chromosome 18 https://rarediseases.info.nih.gov/diseases/6077/ring-chromosome-18 MONDO:0015435 Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (esp. speech) and mild dysmorphism (incl. micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (e.g. hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia, and talipes equinovarus, have also been reported. Ring chromosome type 19 R19 Ring 19 Ring chromosome 19 syndrome chromosome 19 ring ring chromosome 19 https://rarediseases.info.nih.gov/diseases/1333/ring-chromosome-19 MONDO:0015436 Ring chromosome 20 syndrome is marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioural problems. In rare cases, brain, kidney or heart malformations may be present. Ring chromosome type 20 R20 Ring 20 Ring chromosome 20 syndrome chromosome 20 ring ring chromosome 20 https://rarediseases.info.nih.gov/diseases/1334/ring-chromosome-20 MONDO:0015437 Ring chromosome 21 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly). In rare cases, it has been described in phenotypically normal individuals. Ring chromosome type 21 chromosome 21 en anneau R21 Ring 21 Ring chromosome 21 syndrome chromosome 21 ring ring chromosome 21 https://rarediseases.info.nih.gov/diseases/6083/ring-chromosome-21 MONDO:0015438 Ring chromosome 22 is a rare condition caused by having an abnormal chromosome 22 that forms a ring. In this chromosome abnormality,a segment on the short (p) arm and a segment on the long (q) arm of 22 are missing. The amount of material lost varies from person to person. The remaining ends of chromosome 22 have joined together to make a ring shape. Chromosome 22 is an acrocentric chromosome, meaning that the centromere is near one end, creating a very small short (p) arm that does not contain genes that are relevant to development. Thus, only the lost genes on the long (q) arm matter. Knowing the breakpoint in the long arm is likely more helpful. Most cases are sporadic (happen by chance) and occur in people with no history of the condition in their family. Ring chromosome type 22 r(22) syndrome R22 Ring 22 Ring chromosome 22 syndrome chromosome 22 ring ring chromosome 22 https://rarediseases.info.nih.gov/diseases/1336/ring-chromosome-22 MONDO:0015439 Ring chromosome 4 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies. Ring chromosome type 4 r(4) syndrome rose cluster 4 syndrome r(4) R4 Ring 4 Ring chromosome 4 syndrome chromosome 4 ring ring chromosome 4 https://rarediseases.info.nih.gov/diseases/1339/ring-chromosome-4 MONDO:0015440 Ring chromosome 6 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (incl. microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full lips, micrognathia), central nervous system anomalies (e.g. hydrocephalus, cortical atrophy, ventriculomegaly), short neck, and delayed bone age. Cardiac defects, limb anomalies, hip joint malformations, and seizures have also been reported. Ring chromosome type 6 rose cluster 6 R6 Ring 6 Ring chromosome 6 syndrome chromosome 6 ring ring chromosome 6 https://rarediseases.info.nih.gov/diseases/6095/ring-chromosome-6 MONDO:0015441 Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis). Ring chromosome type 7 rose cluster 7 R7 Ring 7 Ring chromosome 7 syndrome chromosome 7 ring ring chromosome 7 https://rarediseases.info.nih.gov/diseases/1345/ring-chromosome-7 MONDO:0015443 Chromosome 8-derived supernumerary ring/marker is a rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome. Ring 8 r(8) syndrome ring chromosome 8 rose cluster 8 supernumerary ring/marker 8 R8 Ring chromosome 8 syndrome chromosome 8 ring chromosome 8-derived supernumerary ring/marker MONDO:0015445 Autosomal dominant form of aorta coarctation. aorta coarctation, autosomal dominant autosomal dominant aorta coarctation autosomal dominant coarctation of aorta MONDO:0015446 Middle aortic coarctation is a rare vascular anomaly characterized by the segmental narrowing of the abdominal and/or distal descending thoracic aorta with varying involvement of the visceral and renal arteries that commonly presents in children and young adults with early onset and refractory hypertension, abdominal angina, lower-limb claudication and that can lead to life-threatening complications associated with severe hypertension (i.e. myocardial infarction, heart failure, aortic rupture, renal insufficiency and intracranial hemorrhage). It may be due to various congenital or acquired causes, but it is most often secondary to an acquired inflammatory disease (i.e. Takayasu arteritis or giant cell arteritis). Midaortic syndrome coarctation of the abdominal aorta mid-aortic dysplastic syndrome mid-aortic syndrome middle aortic syndrome atypical coarctation of aorta MONDO:0015447 Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass. differentiated thyroid cancer differentiated thyroid carcinoma differentiated thyroid gland cancer differentiated thyroid gland carcinoma papillary or follicular thyroid carcinoma thyroid gland differentiated carcinoma thyroid gland well differentiated carcinoma well differentiated thyroid carcinoma well differentiated thyroid gland carcinoma well-differentiated thyroid cancer well-differentiated thyroid carcinoma differentiated thyroid carcinoma MONDO:0015448 Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms). isolated CoQ-cytochrome C reductase deficiency isolated coenzyme Q-cytochrome C reductase deficiency isolated mitochondrial respiratory chain complex III deficiency isolated ubiquinone-cytochrome C reductase deficiency isolated complex III deficiency mitochondrial complex III deficiency MONDO:0015449 Criss cross heart (CCH) is a cardiac malformation where the inflow streams of the two ventricles cross due to twisting of the heart about its major axis. The clinical features depend on the particular cardiac defects associated, like simple or corrected transposition of the great arteries and ventricular septal defects. criss-cross atrioventricular relationships superoinferior ventricles twisted atrioventricular connections criss-cross heart MONDO:0015450 A rare congenital abnormality of the heart characterized by the presence of three atria. The right or left atrium is divided into two parts by fibromuscular tissue or a membrane. It may be associated with other heart congenital abnormalities. Cor triatriatum triatrial heart MONDO:0015451 Univentricular heart (UVH) is a severe congenital cardiac malformation characterized by both atria related entirely or almost entirely to one functionally single ventricular chamber. The clinical manifestations include congestive heart failure, failure to thrive, cyanosis, hypoxemia and neurodevelopmental disabilities. Double inlet left ventricle univentricular heart MONDO:0015452 Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations. https://github.com/monarch-initiative/mondo/issues/5588 CSS Coffin-Siris syndrome dwarfism-onychodysplasia fifth digit syndrome short stature-onychodysplasia. intellectual disability with absent fifth fingernail and terminal phalanx Coffin-Siris syndrome MONDO:0015453 Cogan syndrome (CS) is a rare autoimmune disorder of unknown origin characterized by inflammatory ocular disease (mainly interstitial keratitis) and vestibulo-auditory manifestations (mainly acute onset hearing loss, tinnitus and vertigo), in the setting of a negative work-up for syphilis, with a variable risk of developing into a systemic disease. Systemic manifestations may occur in more than 70% of cases. Cogan syndrome Cogan's syndrome diffuse interstitual keratitis Cogan syndrome MONDO:0015454 Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay. https://github.com/monarch-initiative/mondo/issues/5682 MCD multiple carboxylase deficiency multiple carboxylase deficiency MONDO:0015455 Inflammation of the conjunctiva in a newborn due to Neisseria gonorrhoeae which was acquired during labor and delivery. conjunctivitis gonococcal gonococcal ophthalmia neonatorum gonococcal conjunctivitis https://rarediseases.info.nih.gov/diseases/2546/gonococcal-conjunctivitis MONDO:0015457 Ben Ari-Shuper-Mimouni syndrome corpus callosum agenesis-double urinary collecting system syndrome Ben Ari Shuper Mimouni syndrome agenesis of corpus callosum with double urinary collecting system, trigonocephaly and minor anomalies corpus callosum agenesis - double urinary collecting system corpus callosum agenesis double urinary collecting corpus callosum agenesis-double urinary collecting system syndrome https://rarediseases.info.nih.gov/diseases/1536/corpus-callosum-agenesis-double-urinary-collecting MONDO:0015458 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome is characterised by a hypoplastic corpus callosum, microcephaly, severe intellectual deficit, preauricular skin tags, camptodactyly, growth retardation, and recurrent bronchopneumonia. It has been described in four patients in two families. Transmission is autosomal recessive. https://github.com/monarch-initiative/mondo/issues/5588 Da Silva syndrome intellectual disability - hypoplastic corpus callosum - preauricular tag intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome MONDO:0015459 A carcinoma arising from the nasopharyngeal epithelium. It includes the following types: keratinizing squamous cell carcinoma, nonkeratinizing carcinoma (differentiated and undifferentiated), basaloid squamous cell carcinoma, and papillary adenocarcinoma. cancer of nasopharynx cancer of the nasopharynx malignant nasopharyngeal tumor malignant neoplasm of anterior wall of nasopharynx malignant neoplasm of lateral wall of nasopharynx malignant neoplasm of nasopharyngeal wall malignant neoplasm of nasopharynx malignant neoplasm of nasopharynx (disorder) [ambiguous] malignant neoplasm of other specified sites of nasopharynx malignant neoplasm of posterior wall of nasopharynx malignant neoplasm of roof of nasopharynx malignant neoplasm of superior wall of nasopharynx malignant tumor of anterior wall of nasopharynx malignant tumor of lateral wall of nasopharynx malignant tumor of posterior wall of nasopharynx nasopharyngeal cancer nasopharyngeal throat cancer primary malignant neoplasm of anterior wall of nasopharynx NPC carcinoma of nasopharynx carcinoma of the nasopharynx nasopharyngeal carcinoma nasopharynx carcinoma squamous cell carcinoma of the nasopharynx nasopharyngeal carcinoma MONDO:0015461 Short rib-polydactyly syndromes are a group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial). short rib-polydactyly syndrome MONDO:0015462 Sharma-Kapoor-Ramji syndrome thin ribs-tubular bones-dysmorphism syndrome MONDO:0015463 Craniodigital syndrome - intellectual deficit is characterised by syndactyly of the fingers and toes, characteristic facies (`startled' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit. https://github.com/monarch-initiative/mondo/issues/5588 Scott craniodigital syndrome Scott-Bryant-Graham syndrome Scott Bryant Graham syndrome Scott craniodigital syndrome with intellectual disability Scott craniodigital syndrome with mental retardation craniodigital syndrome with intellectual disability craniodigital syndrome with mental retardation craniodigital syndrome-intellectual disability, Scott type craniodigital syndrome-mental retardation, Scott type craniodigital-intellectual disability syndrome craniodigital syndrome-intellectual disability syndrome https://rarediseases.info.nih.gov/diseases/4776/scott-bryant-graham-syndrome MONDO:0015464 Cranio-fronto-nasal dysplasia - Poland anomaly is a polymalformative syndrome characterised by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. Less than ten cases have been described so far. Webster-Deming syndrome craniofrontonasal dysplasia-Poland anomaly syndrome MONDO:0015465 Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones. craniometaphyseal dysplasia MONDO:0015466 Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis. Currarino disease Currarino idiopathic osteoarthropathy Reginato-Schiapachasse syndrome cranio osteoarthropathy cranio-osteoarthropathy https://rarediseases.info.nih.gov/diseases/1564/cranio-osteoarthropathy MONDO:0015467 Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A. craniosynostosis, Philadelphia type MONDO:0015468 craniosynostosis-cataract syndrome MONDO:0015469 Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome. craniosynostosis syndrome premature closure of cranial sutures CSO craniosynostosis MONDO:0015470 Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia. familial isolated dilated cardiomyopathy familial or idiopathic dilated cardiomyopathy familial isolated dilated cardiomyopathy MONDO:0015471 adolescent benign focal crisis benign focal seizures of adolescence MONDO:0015473 Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare, multiple congenital anomalies syndrome characterized by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalized contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (i.e. sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970. https://github.com/monarch-initiative/mondo/issues/5588 Van Benthem-Driessen-Hanveld syndrome cryptorchidism arachnodactyly intellectual deficit cryptorchidism-arachnodactyly-intellectual disability syndrome MONDO:0015474 Intestinal infection with organisms of the genus Cryptosporidium. It occurs in both animals and humans. Symptoms include severe diarrhea. Cryptosporidial gastroenteritis Cryptosporidium caused disease or disorder Cryptosporidium disease or disorder Cryptosporidium infection Cryptosporidium infectious disease infection by Cryptosporidium intestinal cryptosporidiosis Cryptosporidioses cryptosporidiosis https://rarediseases.info.nih.gov/diseases/6219/cryptosporidiosis MONDO:0015476 cysts and fistulae of the face and oral cavity MONDO:0015477 Pinnae fistula or cyst is a rare otorhinolaryngological malformation characterized by the presence of a, usually unilateral, sinus tract or cyst located in the vicinity of the auricle (most frequently identified by a small pit near the anterior margin of the first ascending portion of the helix). Typically, patients are asymptomatic and usually only present symptoms (pain, erythema, discharge from pit) in relation to infection. Renal and inner ear anomalies may be associated. pinnae fistula or cyst MONDO:0015478 Tessier number 1-1 and 2-12 facial cleft paramedian facial cleft MONDO:0015479 submucosal cleft palate MONDO:0015480 Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterized by a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome. superior palpebral coloboma Editor note: TODO axioms coloboma of superior eyelid MONDO:0015481 Coloboma of inferior eyelid is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral, partial or full-thickness, variably sized defect of the inferior eyelid (ranging from a small notch to complete absence of the entire lid) which is usually triangular in shape (with base at eyelid margin) and located on the lateral third of the lid. It can occur isolated, associated with facial clefting or as part of a syndrome. Inferior palpebral coloboma Editor note: TODO axioms coloboma of inferior eyelid MONDO:0015482 otomandibular dysplasia MONDO:0015483 A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed) bilateral and symmetric oto-mandibular dysplasia mandibulofacial dysostosis MONDO:0015484 Cysticercosis is a parasitic infectious disease characterized by cyst formation in the target tissue of Taenia solium (tapeworm) parasite larvae ingested via the feces of a human with a tapeworm (human-to-human fecal-oral transmission) leading to variable clinical manifestations in muscle, the brain, spinal cord, and eyes. Infection of muscle tissue is generally asymptomatic. Cyst development in the brain and spinal cord is known as neurocysticercosis (NCC) and may cause seizures and headache. NCC can follow a serious course and may be life-threatening. Severe cases of cysticercosis are treated with albendazole and anti-inflammatory drugs. intestinal taenia solium infection neurocysticercosis pork tapeworm infection tapeworm infection: [intestinal taenia solium] or [pork] tapeworm infection: intestinal taenia solum tapeworm infection: pork tenia solium infectious disease cysticercosis MONDO:0015485 primary glaucoma primary hereditary glaucoma MONDO:0015486 A degenerative, structural disorder of the eye, characterized by a cone-shaped protrusion of the cornea. It may lead to visual disturbances. keratoconus (disease) conical cornea keratoconus keratoconus (disease) isolated keratoconus KC noninflammatory corneal thining keratoconus MONDO:0015487 Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy. cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency fatal infantile COX deficiency fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency fatal infantile cytochrome C oxidase deficiency fatal infantile encephalomyopathy Editor note: check GARD xref fatal infantile encephalocardiomyopathy https://rarediseases.info.nih.gov/diseases/1113/fatal-infantile-encephalomyopathy MONDO:0015488 predominantly large-vessel vasculitis MONDO:0015489 predominantly medium-vessel vasculitis MONDO:0015490 predominantly small-vessel vasculitis MONDO:0015491 immune complex mediated vasculitis MONDO:0015492 Group of systemic vasculitis with a strong association with anca. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls. https://github.com/monarch-initiative/mondo/issues/5261 AAV ANCA-associated vasculitis antineutrophil cytoplasmic antibody-associated vasculitis Anti-neutrophil cytoplasmic antibody-associated vasculitis MONDO:0015493 lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy MONDO:0015494 A dystonia (disease) that is not part of a larger syndrome. Pure dystonia isolated dystonic disorder nonsyndromic dystonia (disease) nonsyndromic dystonic disorder isolated dystonia MONDO:0015496 The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992) enlarged tongue giant tongue macroglossia MONDO:0015497 hypoglossia/aglossia MONDO:0015498 oromandibular-limb anomalies syndrome MONDO:0015499 paralytic facial malformation MONDO:0015500 Facial arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the facial area. Lesions may be asymptomatic or may manifest with pain, ulceration, pulsation, tinnitus, minor bleeding or potentially life-threatening hemorrhage, blurred vision, impaired hearing, headache, paresthesia, enlargement of facial bones with intraosseous lesions, intraosseous hemangiomas, and speech, breathing and swallowing difficulties, as well as neuropathy. facial arteriovenous malformation https://rarediseases.info.nih.gov/diseases/12663/facial-arteriovenous-malformation MONDO:0015503 nose and cavum anomaly MONDO:0015504 larynx anomaly MONDO:0015505 tracheal anomaly MONDO:0015508 https://github.com/monarch-initiative/mondo/issues/5114 2022-09-01 Reason: out of scope. MONDO:excludeGeneticFormOfDisease and MONDO:excludeGroupingClass. Term to consider: MONDO:0005154 liver disorder genetic parenchymatous liver disease MONDO:0015509 Genetic biliary tract disease. https://github.com/monarch-initiative/mondo/issues/5114 2022-09-01 genetic biliary tract disease Reason: out of scope. MONDO:excludeGeneticFormOfDisease and MONDO:excludeGroupingClass. Term to consider: MONDO:0004868 biliary tract disorder genetic biliary tract disease MONDO:0015512 An instance of hypertension that is caused by a modification of the individual's genome. https://github.com/monarch-initiative/mondo/issues/5114 2022-09-01 genetic hypertension genetic hypertensive disorder Reason: out of scope. MONDO:excludeGeneticFormOfDisease and MONDO:excludeGroupingClass. Term to consider: MONDO:0005044 hypertensive disorder genetic hypertension MONDO:0015514 growth disorder genetic endocrine growth disease MONDO:0015515 Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form. CPT II deficiency CPT-II CPT2 CPTII Carnitine palmitoyltransferase deficiency type 2 carnitine palmitoyltransferase II deficiency infantile carnitine palmitoyltransferase II deficiency late-onset carnitine palmitoyltransferase II deficiency lethal neonatal carnitine palmitoyltransferase II deficiency Carnitine palmitoyltransferase 2 deficiency Carnitine palmitoyltransferase II (CPT II) deficiency carnitine palmitoyltransferase II deficiency https://rarediseases.info.nih.gov/diseases/1121/carnitine-palmitoyltransferase-2-deficiency MONDO:0015516 Symbrachydactyly of hands and feet is a rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails. De Smet-Fabry-Fryns syndrome symbrachydactyly of hands and feet MONDO:0015517 Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria. https://github.com/monarch-initiative/mondo/issues/5507 CVID common variable agammaglobulinemia idiopathic immunoglobulin deficiency primary antibody deficiency primary hypogammaglobulinemia secondary hypogammaglobulinemia sporadic hypogammaglobulinemia Immunoglobulin deficiency, late-onset acquired agammaglobulinemia acquired hypogammaglobulinemia common variable hypogamma-globulinemia common variable immune deficiency hypogamma-globulinemia, acquired common variable immunodeficiency MONDO:0015518 Several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic. IBSN infantile bilateral striatal necrosis infantile striatonigral degeneration infantile striatonigral necrosis SNDI striatal degeneration familial striatonigral degeneration infantile infantile bilateral striatal necrosis MONDO:0015519 https://github.com/monarch-initiative/mondo/issues/4069 congenital or early infantile CACH syndrome MONDO:0015520 late infantile CACH syndrome MONDO:0015521 juvenile or adult CACH syndrome MONDO:0015523 A low-grade malignant blood vessel neoplasm. It is characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma. https://github.com/monarch-initiative/mondo/issues/3741 epithelioid angioendothelioma epithelioid angiosarcoma epithelioid hemangioendothelioma malignant epithelioid hemangioendothelioma epithelioid hemangioendothelioma MONDO:0015524 Hyperplastic polyposis syndrome is a rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer. serrated polyposis hyperplastic polyposis syndrome MONDO:0015525 https://github.com/monarch-initiative/mondo/issues/4069 congenital pseudarthrosis of the limbs congenital pseudoarthrosis congenital pseudoarthrosis of the limbs https://rarediseases.info.nih.gov/diseases/9722/congenital-pseudoarthrosis MONDO:0015526 Cold-induced sweating syndrome (CISS) is characterized by profuse sweating (involving the chest, face, arms and trunk) induced by cold ambient temperature. CISS Sohar-Crisponi syndrome cold-induced sweating syndrome MONDO:0015528 A congenital gingival tumor that occurs along the alveolar ridge of the maxilla. It usually affects female infants. The histogenesis is unknown. Morphologically, it is characterized by the presence of large cells with eosinophilic granular cytoplasm. Complete surgical resection is curative. https://github.com/monarch-initiative/mondo/issues/4069 Neumann tumor congenital Epulides congenital epulis congenital gingival cell tumor congenital granular cell tumor gingival granular cell tumor congenital epulis MONDO:0015529 Paroxysmal hemicrania (PH) is a primary headache disorder characterized by multiple attacks of unilateral pain that occur in association with cranial autonomic symptoms. The hallmarks of this syndrome are the relative shortness of the attacks and the complete response to indomethacin therapy. paroxysmal Hemicrania https://rarediseases.info.nih.gov/diseases/10794/paroxysmal-hemicrania MONDO:0015530 A headache disorder characterized by episodes of unilateral, short lasting pain and associated ipsilateral cranial autonomic symptoms. trigeminal autonomic cephalalgia MONDO:0015531 Group of disorders which feature accumulations of active HISTIOCYTES and LYMPHOCYTES, but where the histiocytes are not LANGERHANS CELLS. The group includes HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; SINUS HISTIOCYTOSIS; xanthogranuloma; reticulohistiocytoma; juvenile XANTHOGRANULOMA; xanthoma disseminatum; as well as the lipid storage diseases (SEA-BLUE HISTIOCYTE SYNDROME; and NIEMANN-PICK DISEASES). non-Langerhans-cell histiocytosis histiocytosis, non-Langerhans-cell non-Langerhans cell histiocytosis MONDO:0015532 generalized eruptive histiocytoma generalized eruptive histiocytosis MONDO:0015533 benign cephalic histiocytosis MONDO:0015534 A benign histiocytic tumor that occurs during childhood; it is distinct from Langerhans cell histiocytosis. It is characterized by the presence of lipid-laden, foamy histiocytes and Touton-type giant cells in the dermis. The lesions usually develop during infancy. They consist of cutaneous papules and nodules (most often in the head and neck). It is sometimes associated with deep soft tissues nodules. JXG Naevoxanthoendothelioma juvenile xanthogranuloma multiple eruptive juvenile xanthogranuloma xanthoma neviforme juvenile xanthogranuloma MONDO:0015535 Montgomery syndrome xanthoma disseminatum https://rarediseases.info.nih.gov/diseases/13186/xanthoma-disseminatum MONDO:0015536 Papular xanthoma is a form of non-Langerhans cell histiocytosis characterized by cutaneous presentation of solitary or disseminated yellow to orange-brown papular or papulonodular, noncoalescent, asymptomatic skin lesions located predominantly on the head, neck, trunk and extremities (rarely on oral mucosa), in the presence of normolipidemia. Microscopically, the lesions consist of monomorphous infiltrate of xanthomatized macrophages and numerous Touton giant cells, with scant or absent inflammatory infiltrate. It is usually not associated with systemic disease. papular xanthoma MONDO:0015537 A cutaneous necrobiotic disorder characterized by firm, yellow plaques or nodules, often in a periorbital distribution. It is often accompanied by an elevated erythrocyte sedimentation rate; leukopenia; and monoclonal gammopathy (IgG-kappa type) and systemic involvement. NXG necrobiotic xanthogranuloma https://rarediseases.info.nih.gov/diseases/10951/necrobiotic-xanthogranuloma MONDO:0015538 A very rare dendritic cell tumor composed of spindle to ovoid cells with a phenotype that is similar to the Langerhans cells. Patients usually present with cutaneous papules, nodules, and plaques. Systemic symptoms are usually absent. The clinical course is variable. indeterminate Dendritic cell tumor indeterminate cell histiocytosis indeterminate dendritic cell tumor IDCT indeterminate dendritic cell tumor MONDO:0015539 Progressive nodular histiocytosis is a rare, normolipemic, non-Langerhans cell histiocytosis characterized by progressive growth of multiple to disseminated, asymptomatic skin lesions that range in appearance from yellow plaques to coalescence-prone red-brown papules, nodules and pedunculated tumors up to 5 cm in size, located typically on the face, trunk and extremities (and rarely on conjuctiva and mucous membranes). Characteristic microscopic findings include a storiform spindle cell infiltrate in the deep dermis with xanthomatized macrophages and some Touton cells in the upper dermis. It is usually not associated with systemic disease. progressive nodular histiocytosis MONDO:0015540 Hemophagocytic syndrome (HPS) is a rare immune disease and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis). HLH hemophagocytic lymphohistiocytosis hemophagocytic syndrome FHL familial erythrophagocytic lymphohistiocytosis familial hemophagocytic lymphohistiocytosis familial histiocytic reticulosis haemophagocytic syndrome hemophagocytic disorder Editor note: NCIT treats hemophagocytic syndrome and Hemophagocytic Lymphohistiocytosis as distinct; we merge here but this should be checked. See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/19 hemophagocytic syndrome https://rarediseases.info.nih.gov/diseases/6589/hemophagocytic-lymphohistiocytosis MONDO:0015541 An instance of hemophagocytic lymphohistiocytosis that is caused by an inherited genomic modification in an individual. familial hemophagocytic lymphohistiocytosis genetic hemophagocytic lymphohistiocytosis genetic hemophagocytic syndrome primary hemophagocytic lymphohistiocytosis genetic hemophagocytic lymphohistiocytosis MONDO:0015542 Hemophagocytic lymphohistiocytosis due to infections, autoimmune disorders, or underlying malignancies. Signs and symptoms include fever, lymphadenopathy, hepatomegaly, splenomegaly, and pancytopenia. acquired hemophagocytic lymphohistiocytosis acquired hemophagocytic syndrome reactive hemophagocytic syndrome secondary hemophagocytic lymphohistiocytosis MONDO:0015544 acquired hemophagocytic lymphohistiocytosis associated with malignant disease MONDO:0015545 A complication of rheumatic disease that is caused by excessive activation and uncontrolled proliferation of T lymphocytes and well-differentiated macrophages. It is characterized by fever, pancytopenia, liver insufficiency, coagulopathy and neurologic symptoms. MAS reactive hemophagocytic lymphohistiocytosis macrophage activation syndrome https://rarediseases.info.nih.gov/diseases/12124/macrophage-activation-syndrome MONDO:0015546 Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported. https://github.com/monarch-initiative/mondo/issues/3664 non-distal deletion 10q non-distal monosomy type 10q non-telomeric monosomy 10q non-distal monosomy 10q MONDO:0015547 Genetic dementia. https://github.com/monarch-initiative/mondo/issues/5114 2022-09-01 genetic dementia Reason: out of scope. MONDO:excludeGeneticFormOfDisease and MONDO:excludeGroupingClass. Term to consider: MONDO:0001627 dementia genetic dementia MONDO:0015548 Huntington disease phenocopy syndrome Huntington disease-like syndrome MONDO:0015550 A form of epidermolysis bullosa simplex in which blistering occurs above the basal keratinocytes. epidermis suprabasal layer epidermolysis bullosa simplex epidermolysis bullosa simplex of epidermis suprabasal layer suprabasal epidermolysis bullosa simplex MONDO:0015552 Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blistering confined primarily to the hands and feet. DEB, acral DEB-ac acral dystrophic epidermolysis bullosa MONDO:0015553 Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB) that shows no blistering and that is characterized by dystrophic or absent nails. DEB-na nails-only DDEB nails-only DEB dominant dystrophic epidermolysis bullosa, nails only dystrophic epidermolysis bullosa, nails only MONDO:0015554 typical urticaria pigmentosa MONDO:0015555 plaque-form urticaria pigmentosa MONDO:0015556 nodular urticaria pigmentosa MONDO:0015557 Smouldering systemic mastocytosis is a type of systemic mastocytosis (SM). This clonal hematologic disease, with a slow progression, results in an accumulation of neoplastic mast cells in the visceral organs over time and patients present with splenomegaly, hypercellular marrow and, in some cases, urticaria pigmentosa-like skin lesions. Smouldering systemic mastocytosis MONDO:0015558 isolated bone marrow mastocytosis MONDO:0015559 lymphoadenopathic mastocytosis with eosinophilia MONDO:0015562 Distal monosomy 17q is a very rare chromosomal disorder of unknown prevalence characterized by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal. The deletions include 17(q21.3q23), 17(q21.3q24.2), 17(q23.q24.3) and 17(q23.1q24.2). https://github.com/monarch-initiative/mondo/issues/3664 distal 17q deletion distal monosomy type 17q monosomy 17qter telomeric deletion 17q 17q deletion 17q monosomy chromosome 17q deletion deletion 17q monosomy 17q partial monosomy 17q distal monosomy 17q MONDO:0015564 Castleman disease (CD) is a benign lymphoproliferative disorder that may present as a localized or multicentric form. The clinical manifestations are heterogeneous, ranging from asymptomatic discrete lymphadenopathy to recurrent episodes of diffuse lymphadenopathy with severe systemic symptoms. AFLH Castleman disease Castleman's disease Castleman's tumor GLNH angiofollicular ganglionic hyperplasia angiofollicular lymph hyperplasia angiofollicular lymph node hyperplasia angiofollicular lymphoid hyperplasia giant lymph node hyperplasia lymphoid hamartoma ALNH Castleman disease MONDO:0015565 Cap polyposis (CP) is a rare colorectal disease characterized by multiple inflammatory polyps that predominantly affect the rectosigmoid area and that manifests primarily as rectal bleeding with abnormal transit, constipation and diarrhea. Cap inflammatory polyposis eroded polypoid hyperplasia inflammatory myoglandular polyps polypoid prolapsing folds cap polyposis MONDO:0015566 2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism. https://github.com/monarch-initiative/mondo/issues/3664 Del(2)(q24) monosomy 2q24 2q24 deletion chromosome 2q24 microdeletion syndrome deletion 2q24 2q24 microdeletion syndrome MONDO:0015567 Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. cataract - glaucoma cataract-glaucoma syndrome https://rarediseases.info.nih.gov/diseases/1160/cataract-glaucoma MONDO:0015568 https://github.com/monarch-initiative/mondo/issues/4069 isolated apertura pyriformis stenosis isolated nasal pyriform aperture hypoplasia isolated congenital nasal pyriform aperture stenosis MONDO:0015569 https://github.com/monarch-initiative/mondo/issues/4069 apertura pyriformis with holoprosencephaly congenital nasal pyriform aperture stenosis with holoprosencephaly MONDO:0015570 Isolated congenital auditory ossicle malformation is a rare, congential, middle ear anomaly characterized by, usually unilateral and sporadic, variations in the number, size and/or configuration of the ossicles, with no tympanic membrane and external ear abnormalities and no history of trauma or infection. Patients frequently present late, after schooling has started, with non- progressive, conductive hearing loss often associated with speech delay and poor school performance. https://github.com/monarch-initiative/mondo/issues/4069 congenital auditory ossicle malformation without external ear abnormality isolated congenital auditory ossicle malformation MONDO:0015571 Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3 . The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome that is characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare, characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature due to growth hormone deficiency, and a variety of minor anomalies such as mildly bell-shaped chest, minor congenital heart defects and a distinct facial gestalt. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly, and significant cardiac defects (e.g. atrial septal defect with/without atrioventricular conduction defects, Ebstein anomaly, tetralogy of Fallot) linked to haploinsufficiency of NKX2.5 (5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment. https://github.com/monarch-initiative/mondo/issues/3664 Del (5)(q35) Del (5)(qter) deletion type 5q35 distal 5q deletion monosomy 5q35 telomeric deletion 5q deletion 5q35 MONDO:0015573 Subacute cutaneous lupus erythematosus (SCLE) is a form of cutaneous lupus erythematosus (CLE) that can present either as a non-scarring, annular photo-distributed dermatosis or psoriasiform plaques. SCLE is associated with anti-Ro/SSA antibodies and can be drug-induced. subacute cutaneous lupus erythematosus MONDO:0015574 Chronic cutaneous lupus erythematosus (CCLE) is a form of cutaneous lupus erythematosus (CLE) that includes five different forms: discoid lupus erythematosus (DLE), chilblain lupus, hypertrophic or verrucous lupus erythematosus, lupus erythematosus tumidus, and lupus erythematosus panniculitis. cutaneous lupus erythematosus, chronic chronic cutaneous lupus erythematosus MONDO:0015579 Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia. Alpha-thalassemia hydrops fetalis Alpha-thalassemia major Hemoglobin Bart's hydrops fetalis homozygous alpha0-thalassemia Hb Bart's hydrops fetalis MONDO:0015580 Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (incl. genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported. https://github.com/monarch-initiative/mondo/issues/3664 distal deletion 7q36 distal monosomy type 7q36 monosomy 7qter telomeric deletion 7q36 distal monosomy 7q36 MONDO:0015583 The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia. https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/3777 2p21 Microdeletion Syndrome 2p21 deletion syndrome Del(2)(p21) monosomy 2p21 2p21 microdeletion syndrome MONDO:0015584 Febrile infection-related epilepsy syndrome (FIRES) describes an explosive-onset, potentially fatal acute epileptic encephalopathy that develops in previously healthy children and adolescents following the onset of a non-specific febrile illness. AERRPS DESC syndrome FIRES acute encephalitis with refractory repetitive partial seizures acute non-herpetic encephalitis with severe refractory status epilepticus devastating epileptic encephalopathy in school-aged children fever-induced refractory epileptic encephalopathy in school-aged children idiopathic catastrophic epileptic encephalopathy severe refractory status epilepticus owing to presumed encephalitis status epilepticus owing to presumed encephalitis febrile infection-related epilepsy syndrome https://rarediseases.info.nih.gov/diseases/11005/febrile-infection-related-epilepsy-syndrome MONDO:0015585 Cryptogenic late-onset epileptic spasms is a rare epilepsy syndrome characterized by late-onset (after 1 year old) epileptic spasms that ocurr in clusters, associated with tonic seizures, atypical absences and cognitive deterioration. Language difficulties and behavior problems are frequently present. EEG is characterized by a temporal, or temporofrontal, slow wave or spike focus combined with synchronous spike-waves and no hypsarrhythmia or background activity. late-onset infantile spasms cryptogenic late-onset epileptic spasms MONDO:0015586 Benign familial mesial temporal lobe epilepsy is a rare epilepsy characterized by seizures with viscerosensory or experential auras, onset in adolescence or early adulthood and good prognosis. It is defined as at least 24 months of seizure freedom with or without antiepileptic medication. benign FMTLE benign familial mesial temporal lobe epilepsy MONDO:0015587 A rare, genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed. rolandic epilepsy-speech dyspraxia syndrome MONDO:0015588 A group of autoimmune conditions characterized by inflammation of the limbic system and other parts of the brain.The cardinal sign of limbic encephalitis is a severe impairment of short-term memory; however,symptoms may also include confusion, psychiatric symptoms, and seizures.The symptomstypically develop over a few weeks or months, but they may evolve over a few days. Limbic encephalitis is often associated with an underlying neoplasm (paraneoplastic limbic encephalitis); however some cases never have a neoplasm identified (non-paraneoplastic limbic encephalitis). Delayed diagnosis is common, but improvements are being made to assist in early detection. Various tests including imaging studies (MRI, PET) laboratory tests (CSF analysis), and tests that measure the electrical activity of the brain (EEG) may be utilized to confirm a diagnosis. Treatment includes removal of the neoplasm (if identified) and immunotherapy. limbic encephalitis https://rarediseases.info.nih.gov/diseases/8742/limbic-encephalitis MONDO:0015589 A rare disorder characterized by degenerative changes in the limbic area of the brain. Causes include infections and autoimmune conditions; it may also manifest as a paraneoplastic syndrome, most often caused by small cell lung carcinoma. Signs and symptoms include behavioral changes, hallucinations and dementia. limbic encephalitis paraneoplastic limbic encephalitis MONDO:0015590 Classic paraneoplastic limbic encephalitis is a rare neuroimmunological disorder characterized by the sudden onset of seizures, progressive memory impairment (which may develop into dementia) and psychiatric manifestations (e.g. depression, personality changes, loss of social inhibition) associated with cancer (most commonly small-cell carcinoma of the lung) in the absence of tumor cell invasion of the nervous system. Other reported features include ataxia, dystonia, paresthesia, tremors, paranoid ideation, and hallucinations. The presence of antibodies that act on neuronal antigens (such as anti-Hu, anti-Ma2, anti-amphiphysin) are typically observed. classic paraneoplastic limbic encephalitis, with or without intracellular antigens classic paraneoplastic limbic encephalitis MONDO:0015591 limbic encephalitis associated with antibodies to cell membrane antigens MONDO:0015592 Limbic encephalitis with LGI1 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive decline, psychiatric disturbances and seizures (distinctively faciobrachial dystonic seizures) in association with detection of LGI1 antibodies in serum or cerebrospinal fluid. Patients may present with confusion, hallucinations, vocalization, paranoia, tangentiality, aggressive outbursts and/or spatial disorientation, as well as obstinate hyponatremia. It is most often non-paraneoplastic, however comorbid tumors, such as small cell lung cancer and thymoma, have been reported. limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies limbic encephalitis with LGI1 antibodies MONDO:0015593 limbic encephalitis with novel cell membrane antigen antibodies limbic encephalitis with nCMAgs antibodies MONDO:0015594 https://github.com/monarch-initiative/mondo/issues/5801 2023-04-01 Reason of obsoletion: out of scope - cross-reference obsolete at the source (MONDO:excludeObsoleteSource). Term to consider: none- non-paraneoplastic limbic encephalitis MONDO:0015595 Posttransplant acute limbic encephalitis is a rare, acquired, non-paraneoplastic limbic encephalitis disorder, that develops in the setting of treatment-related immunosuppression, typically after allogeneic hemapoietic stem cell transplantation, characterized by onset of confusion, headache, anterograde amnesia, seizures and/or loss of consciousness 2-6 weeks following transplantation. Bilateral, non-enhancing T2 hyperintensities in limbic structures are observed on magnetic resonance imaging. Mild cerebrospinal fluid pleocytosis and syndrome of inappropriate antidiuretic hormone secretion may also be associated. pale posttransplant acute limbic encephalitis MONDO:0015596 Non-herpetic acute limbic encephalitis is a rare neuroinflammatory/neuroautoimmune disease characterized by an acute (or subacute) onset of disturbance of consciousness (occasionally presenting as convulsions) and high fever, associated with cerebral lesions (on magnetic resonance imaging) that are restricted to the limbic system (particularly the hippocampi and amygdalae), in the absence of viral, bacterial, fungal, paraneoplastic and other disorders. non-herpetic acute limbic encephalitis MONDO:0015597 LPP PPP acropustulosis localized pustular psoriasis palmoplantar pustulosis pustular psoriasis of the palms and/or soles pustulosis of palm and sole pustulosis palmaris et plantaris MONDO:0015599 Atopic keratoconjunctivitis is a rare and chronic allergic disease of the cornea and conjunctiva occurring in all age groups characterized by severe itching and burning sensation, conjunctival injection, photophobia and edema with serious cases leading to ulceration of the cornea which can result in blindness. It is often associated with atopic dermatitis. atopic keratoconjunctivitis MONDO:0015600 X-linked intellectual deficit, Cilliers type is characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears). https://github.com/monarch-initiative/mondo/issues/5588 X-linked intellectual disability-microcephaly-testicular failure syndrome X-linked intellectual disability, Cilliers type MONDO:0015601 X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 VEODS Van Esch-O'Driscoll syndrome Van Esch-O'Driscoll syndrome, X-linked recessive mental retardation, X-Linked, syndromic, Van Esch-O'Driscoll type X-linked intellectual disability, van Esch type MONDO:0015604 middle ear anomaly MONDO:0015605 Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma. https://github.com/monarch-initiative/mondo/issues/3664 distal deletion 9p distal monosomy type 9p monosomy 9pter telomeric deletion 9p distal monosomy 9p MONDO:0015606 Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated. https://github.com/monarch-initiative/mondo/issues/3664 Del(X)(p23) Xp22.3 microdeletion syndrome https://rarediseases.info.nih.gov/diseases/13170/xp223-microdeletion-syndrome MONDO:0015607 Male sterility due to chromosome Y deletion is characterized by a severe deficiency of spermatogenesis. Chromosome Y deletions are a frequent genetic cause of male infertility. https://github.com/monarch-initiative/mondo/issues/3664 Male sterility due to chromosome Y deletion Y-chromosome microdeletions partial deletion of Y partial deletion of Y chromosome short arm partial deletion of chromosome Y partial deletion of the long arm of the Y chromosome partial chromosome Y deletion MONDO:0015608 Acute myeloid leukemia and myelodysplastic syndromes related to radiation represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with radiation. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. Patients frequently present with multilineage dysplasia and cytopenias 5-10 years after exposure. AML and myelodysplastic syndromes related to radiation acute myeloid leukemia and myelodysplastic syndromes related to radiation MONDO:0015609 A very rare circadian rhythm sleep disorder characterized by very early sleep onset and offset possibly resulting in emotional and physical disruptions. FASPS familial advanced sleep-phase syndrome advanced sleep phase syndrome, familial familial advanced sleep phase syndrome advanced sleep phase syndrome MONDO:0015610 An instance of aplastic anemia that is acquired during the lifetime of the individual. acquired aplastic anemia rare acquired aplastic anemia acquired aplastic anemia MONDO:0015611 Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy) can be distinguished. lipidosis with triglyceride storage disease Chanarin-Dorfman syndrome lipidosis with triglycerid storage disease Editor note: DOID:0050729 and wikipedia treat CD-syndrome and NLSD as one, but we follow orphanet is placing CD as a subtype. neutral lipid storage disease MONDO:0015612 Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction. Dent syndrome Dent's disease X-linked recessive hypercalciuric hypophosphatemic rickets X-linked recessive hypophosphatemic rickets X-linked recessive nephrolithiasis low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis renal Fanconi syndrome with nephrocalcinosis and renal stones Dent disease 1 Dent disease 2 Dents disease Dent disease MONDO:0015613 Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II. DD dentinal dysplasia dentin dysplasia MONDO:0015614 Dermatitis herpetiformis (DH) is a chronic autoimmune subepidermal bullous disease characterized by grouped pruritic lesions such as papules, urticarial plaques, erythema, and herpetiform vesiculae, with a predominantly symmetrical distribution on extensor surfaces of the elbows (90%), knees (30%), shoulders, buttocks, sacral region, and face of children and adults. Erosions, excoriations and hyperpigmentation usually follow. DH may also appear as a consequence of gluten intolerance. Duhring's disease Durhing-Brocq disease dermatitis herpetiformis dermatosis herpetiformis dermatitis herpetiformis MONDO:0015617 https://github.com/monarch-initiative/mondo/issues/5114 2022-09-01 Reason: out of scope. MONDO:excludeGeneticFormOfDisease and MONDO:excludeGroupingClass. Term to consider: MONDO:0004335 digestive system disorder genetic gastro-esophageal disease MONDO:0015619 A urogenital tract malformation that is not part of a larger syndrome. isolated urogenital tract malformation nonsyndromic urogenital tract malformation non-syndromic urogenital tract malformation MONDO:0015620 A urogenital tract malformation that is part of a larger syndrome. syndrome associated with urogenital tract malformation syndromic urogenital tract malformation syndromic urogenital tract malformation MONDO:0015622 traumatic myiasis wound myiasis MONDO:0015623 Cavitary myiasis is a rare parasitic disease characterized by the infestation of natural body cavities (e.g. aural, nasal, oral, urogenital myiasis) and internal organs (e.g. cerebral myiasis, ophthalmomyiasis, intestinal and tracheopulmonary myiasis) with dipteran larvae. Clinical presentation is variable depending on the affected site(s) and degree of infestation and include foreign-body sensation (with or without movement sensation), hemorrhage, pain, edema, sensory loss, malodor, and pruritus, among others. Neurological features (e.g. motor deficits, seizures, reduced mental status, extrapyramidal signs) have been reported in cerebral myiasis. cavitary myiasis MONDO:0015624 hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form diazoxide-sensitive diffuse hyperinsulinism MONDO:0015625 Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy. hyperinsulinemic hypoglycemia, diazoxide-resistant diffuse form diazoxide-resistant diffuse hyperinsulinism MONDO:0015626 An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs. hereditary motor and sensory neuropathy hereditary sensorimotor neuropathy CMT CMT - Charcot-Marie-Tooth disease CMT/HMSN Charcot Marie Tooth muscular atrophy Charcot-Marie-Tooth disease Charcot-Marie-Tooth hereditary neuropathy peroneal muscular atrophy Charcot Marie Tooth disease Charcot-Marie-Tooth disease/hereditary motor and sensory neuropathy Charcot-Marie-Tooth disease MONDO:0015627 Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported. multiple epiphyseal dysplasia due to collagen 9 anomaly MONDO:0015628 Type 2A von Willebrand disease (type 2A VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium caused by a deficiency of high molecular weight VWF multimers. von Willebrand disease, type 2A von Willebrand disease type 2A MONDO:0015629 A subtype of type 2 VWD characterized by a bleeding disorder associated with an increase in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets. This anomaly results in spontaneous binding of high molecular weight VWF multimers to platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and the high molecular weight VWF multimers from the plasma. von Willebrand disease type 2B von Willebrand disease, type 2B von Willebrand disease type 2B MONDO:0015630 A subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium in the absence of any deficiency of high molecular weight VWF multimers. von Willebrand disease, type 2M Editor note: 2 sctitds refer to same disease von Willebrand disease type 2M MONDO:0015631 Type 2N von Willebrand disease (type 2N VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for factor VIII (FVIII). von Willebrand disease Normandy variant von Willebrand disease, type 2N von Willebrand disease type 2N MONDO:0015632 FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015634 A osteopoikilosis (disease) that is not part of a larger syndrome. isolated osteopoikilosis (disease) nonsyndromic osteopoikilosis (disease) isolated osteopoikilosis MONDO:0015635 A rare, congenital disorder of the eccrine sweat ducts that presents as grouped keratotic papules and plaques with a linear distribution and/or multiple punctate pits filled with tiny keratotic plugs resembling comedones. The lesion are usually located on the acral portion of a limb. Porokeratotic eccrine duct and hair follicle Nevus Porokeratotic eccrine nevus comedo nevus of the palm linear eccrine Nevus with comedones porokeratotic eccrine ostial and dermal duct nevus MONDO:0015636 Infection with nematodes of the genus dirofilaria, usually in animals, especially dogs, but occasionally in humans. Dirofilaria caused disease or disorder Dirofilaria disease or disorder Dirofilaria infectious disease infection by Dirofilaria dirofilariasis https://rarediseases.info.nih.gov/diseases/11908/dirofilariasis MONDO:0015637 benign non-familial infantile seizures MONDO:0015638 Benign partial epilepsy of infancy with complex partial seizures is a rare infantile epilepsy syndrome characterized by complex partial seizures presenting with motion arrest, decreased responsiveness, staring, automatisms and mild clonic movements, with or without apneas, normal interictal EEG and focal, mostly temporal discharges in ictal EEG. Most often, seizures occur in clusters and have a good response to treatment. Psychomotor development is normal. benign partial epilepsy of infancy with complex partial seizures MONDO:0015639 Benign partial epilepsy with secondarily generalized seizures in infancy is a rare infantile epilepsy syndrome characterized by seizures presenting with motion arrest and staring. They are followed by generalized tonic-clonic convulsions with normal interictal EEG and focal paroxysmal discharges, followed by generalization in ictal EEG. Seizures usually occur in clusters and are responsive to treatment. Psychomotor development is normal. benign partial epilepsy with secondarily generalized seizures in infancy MONDO:0015640 Benign infantile seizures associated with mild gastroenteritis is a rare infantile epilepsy syndrome characterized by benign afebrile seizures in previously healthy infants and children (age range 1 month to 6 years) with mild acute gastroenteritis without any central nervous system infection, severe dehydration, or electrolyte imbalances. In most cases the seizures are tonic-clonic with focal origin on EEG, occur between day 1 and 6 following onset of acute gastroenteritis, cease within 24 hours and do not persist after the illness. benign infantile seizures associated with mild gastroenteritis MONDO:0015641 Benign infantile focal epilepsy with midline spikes and waves during sleep is a rare infantile epilepsy syndrome characterized by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralizing signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region. BIMSE benign infantile focal epilepsy with midline spikes and waves during sleep benign infantile focal epilepsy with midline spikes and wave during sleep MONDO:0015642 benign partial infantile seizures MONDO:0015643 An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights. photogenic epilepsy photoparoxysmal response PSE photosensitive epilepsy https://rarediseases.info.nih.gov/diseases/5648/photosensitive-epilepsy MONDO:0015644 Audiogenic seizures is a rare neurologic disease characterized by seizures that are triggered by acoustic stimulation, which can be simple (as in startle epilepsy) or complex (e.g. musicogenic seizures, seizures triggered by the voice). audiogenic seizures MONDO:0015645 eating epilepsy eating reflex epilepsy eating seizures MONDO:0015646 Orgasm-induced seizures is a rare neurologic disease characterized by complex partial seizures with or without secondary generalization, or idiopathic primarily generalized epilepsy, triggered by sexual orgasm. Seizures usually start immediately, shortly after or a few hours after the achievement of orgasm, last a few seconds or minutes, and are followed, in very rare cases, by intense migraine. orgasm-induced seizures MONDO:0015647 Thinking seizures is a rare neurologic disease characterized by seizures induced by specific cognitive tasks, such as calculation or solving arithmetic problems (e.g Sudoku puzzle), playing thinking games (e.g. Rubik's cube, chess, cards), thinking, making decisions and abstract reasoning. Idiopathic generalized seizures are mainly involved, but partial epilepsies may, in rare cases, be observed. thinking seizures MONDO:0015648 Startle epilepsy is a rare neurologic disease characterized by frequent and spontaneous epileptic seizures (frequently with symmetrical or asymmetrical tonic features) triggered by a normal startle in response to a sudden and unexpected somatosensory (most frequently auditory) stimulus. Falls are common and can be traumatic. In most cases, the disease is associated with spastic hemi-, di-, or tetraplegia and intellectual disability. startle epilepsy MONDO:0015649 Micturition-induced seizures is a rare neurologic disease characterized by tonic posturing or clonic movements triggered by micturition, with bilateral or unilateral involvement of the extremities and with or without loss of consciousness. Developmental delay is reported in some cases. micturation-induced seizures MONDO:0015650 epileptic syndrome syndromic epilepsy epilepsy syndrome MONDO:0015653 monogenic disease with epilepsy monogenic epilepsy MONDO:0015660 Sporadic fetal brain disruption sequence is a rare, non-syndromic, central nervous system malformation disorder characterized by severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. Brain imaging may show ventriculomegaly, cortical tissue deficit, and hydranencephaly. sporadic fetal brain disruption sequence MONDO:0015661 A rare congenital abnormality in which the heart is located in the right side of the chest. It is associated with other congenital heart defects. dextrocardia (disease) dextrocardia dextrocardia (disease) heart predominantly in right hemithorax dextrocardia MONDO:0015663 Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesias and euphoria, in the presence of hypothalamic tumors. Russell diencephalic cachexia Russell syndrome diencephalic cachexia diencephalic syndrome of childhood diencephalic syndrome of emaciation diencephalic syndrome of infancy diencephalic syndrome https://rarediseases.info.nih.gov/diseases/6276/diencephalic-syndrome MONDO:0015664 Idiopathic pulmonary artery dilatation is a rare developmental defect during embryogenesis characterized by the dilatation of the main pulmonary artery, with or without dilatation of the right and left pulmonary artery branches, and not attributed to any other cardiac, pulmonary and/or arterial wall disease. It may present with exertional dyspnea, fatigue, cough, hemoptysis, palpitation and chest pain, but may also be asymptomatic. In serious cases, trachea constriction due to postural changes may lead to attacks of cyanosis with severe dyspnea. Sudden cardiac death has been reported in some cases. idiopathic dilatation of the pulmonary artery idiopathic pulmonary artery dilatation https://rarediseases.info.nih.gov/diseases/6757/idiopathic-dilatation-of-the-pulmonary-artery MONDO:0015665 Scleromyxedema is a rare, severe skin disorder. Signs and symptoms include abnormal accumulation of mucin in the skin (mucinosis), causing papular and sclerodermoid bumps; increased production of fibroblasts (connective tissue cells) in the absence of a thyroid disorder; and monoclonal gammopathy (abnormal proteins in the blood). It often involves internal organs and may affect various body systems. The cause of scleromyxedema is not known. There is no standard treatment. Management may involve the use of intravenous immunoglobulin (IVIG), plasmapheresis, thalidomide and corticoids, or more aggressive interventions, such as autologous bone marrow transplantation. Arndt-Gottron disease Scleromyxedema generalized lichenoid papular eruption generalized papular and sclerodermoid lichen myxedematosus scleromyxoedema generalized papular and sclerodermoid lichen myxedematosus mucinosis, papular myxedematosus, lichen papular mucinosis scleromyxedema https://rarediseases.info.nih.gov/diseases/7615/scleromyxedema MONDO:0015666 Idiopathic dilatation of the right atrium (IDRA) is a rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications. familial idiopathic dilatation of the right atrium (disease) familial idiopathic dilatation of the right atrium (disease) familial idiopathic dilatation of the right atrium MONDO:0015667 Acute myeloid leukemias that do not fulfill the criteria for inclusion in the group of acute myeloid leukemias which have recurrent genetic abnormalities or myelodysplastic changes, or are therapy-related. This category includes entities classified according to the French-American-British classification scheme. acute myeloid leukemia AML, NOS acute myeloid leukemia NOS acute myeloid leukemia not otherwise categorized acute myeloid leukemia not otherwise specified acute myeloid leukemia, NOS unclassified AML unclassified acute myeloid leukemia acute myeloid leukemia by FAB classification https://rarediseases.info.nih.gov/diseases/12760/unclassified-acute-myeloid-leukemia MONDO:0015668 The hereditary dentin disorders, dentinogenesis imperfecta (DGI) and dentin dysplasia (DD), comprise a group of conditions characterized by abnormal dentin structure affecting either the primary or both the primary and secondary dentitions. hereditary dentin defect MONDO:0015672 Diprosopus is a rare, life-threatening developmental defect during embryogenesis, and a subtype of conjoined twins, characterized by partial or complete duplication of the facial structures on a single head, neck, trunk and body. It may be associated with congenital anomalies involving the central nervous, cardiovascular, gastrointestinal and respiratory systems. Cleft lip and palate have been reported in rare cases. Diprosopia craniofacial duplication diprosopus MONDO:0015674 A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration. Jansky-Bielschowsky disease LINCL late infantile NCL late-infantile neuronal ceroid lipofuscinosis Bielschowsky-jansky disease Bielschowsky-jansky type neuronal ceroid lipofuscinosis amaurotic idiocy early juvenile type amaurotic idiocy late infantile type amaurotic idiocy, early juvenile type amaurotic idiocy, late infantile type dollinger-Bielschowsky syndrome dollinger-Bielschowsky type neuronal ceroid lipofuscinosis late infantile neuronal ceroid lipofuscinosis MONDO:0015675 Distomatosis is a group of parasitoses caused by flat worms that live in contact with epitheliums. Clinical classification depends on the organ infected by the adult parasite: liver, lungs, or intestines. distomiasis fluke infection distomatosis https://rarediseases.info.nih.gov/diseases/1891/distomatosis MONDO:0015677 Congenital cardiac diverticulum (CCD) is a very rare congenital malformation characterized by a muscular appendix emerging from the left ventricular apex, rarely from the right ventricle or from both chambers, with clinical manifestations ranging from asymptomatic to life-threatening hemodynamic collapse. cardiac diverticulum (disease) Cardiac diverticulum cardiac diverticulum (disease) cardiac diverticulum MONDO:0015678 Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis. dysplasia of head of femur, Meyer type MONDO:0015679 autosomal thrombocytopenia with normal platelets MONDO:0015681 A rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviors and dementia. https://github.com/monarch-initiative/mondo/issues/4537 childhood disintegrative disease dementia infantilis disintegrative psychosis heller syndrome heller's syndrome symbiotic psychosis childhood disintegrative disorder https://rarediseases.info.nih.gov/diseases/6040/childhood-disintegrative-disorder MONDO:0015682 primary peritoneal tumor MONDO:0015683 primary malignant peritoneal tumor MONDO:0015686 Primary peritoneal carcinoma (PPC) is a rare malignant tumor of the peritoneal cavity of extra-ovarian origin, clinically and histologically similar to advanced-stage serous ovarian carcinoma. primary peritoneal carcinoma (disease) EOPPC Extra-ovarian primary peritoneal carcinoma PPC primary peritoneal cancer primary peritoneal carcinoma primary peritoneal carcinoma (disease) primary peritoneal serous carcinoma serous surface papillary carcinoma primary peritoneal carcinoma MONDO:0015687 https://github.com/monarch-initiative/mondo/issues/4291 CEL CEL/hypereosinophilic syndrome chronic eosinophilic leukemia chronic eosinophilic leukemia/hypereosinophilic syndrome eosinophilic leukemia CELNOS chronic eosinophilic leukemia MONDO:0015688 https://github.com/monarch-initiative/mondo/issues/3845 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of platelet-derived growth factor receptor alpha (PDGFRA), platelet-derived growth factor receptor beta (PDGFRB), and fibroblast growth factor receptor-1 (FGFR1) are a group of hematologic neoplasms myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 myeloid/lymphoid neoplasms with eosinophilia and gene rearrangement myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 MONDO:0015689 A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic eosinophilic leukemia or, less commonly, as acute myeloid leukemia or T-lymphoblastic leukemia with eosinophilia. Patients usually present with eosinophilia, anemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy. https://github.com/monarch-initiative/mondo/issues/3845 myeloid and lymphoid neoplasms associated with PDGFRA rearrangement myeloid and lymphoid neoplasms with PDGFRA rearrangement myeloid/lymphoid neoplasms with PDGFRA rearrangement myeloid/lymphoid neoplasm associated with PDGFRA rearrangement myeloid neoplasm associated with PDGFRA rearrangement MONDO:0015690 A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRB gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic myelomonocytic leukemia with eosinophilia, chronic eosinophilic leukemia, atypical chronic myelogenous leukemia, juvenile myelomonocytic leukemia, myelodysplastic syndrome, acute myeloid leukemia or acute lymphoblastic leukemia. Patients usually present with anemia, leukocytosis, monocytosis, eosinophilia and/or splenomegaly, or systemic symptoms, such as fever, sweating and/or weight loss. https://github.com/monarch-initiative/mondo/issues/3845 myeloid and lymphoid neoplasms with PDGFRB rearrangement myeloid neoplasms associated with PDGFRB rearrangement myeloid neoplasms with PDGFRB rearrangement myeloid/lymphoid neoplasms with PDGFRB rearrangement myeloid/lymphoid neoplasm associated with PDGFRB rearrangement myeloid neoplasm associated with PDGFRB rearrangement MONDO:0015691 Hypereosinophilic syndrome (HES) constitutes a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia and/or tissue eosinophilia associated with a wide range of clinical manifestations reflecting eosinophil-induced tissue/organ damage. HES eosinophilic leukocytosis hypereosinophilic disease hypereosinophilic disorder hypereosinophilic syndrome eosinophilia hypereosinophilic syndrome MONDO:0015692 Refractory anemia with excess blasts in transformation (RAEB-T) is characterised by dysplastic features of the myeloid and usually erythroid progenitor cells in the bone marrow and an increased number of myeloblasts in the peripheral blood. The peripheral blood blast count ranges from 20% to 30%. RAEB-T used to be a subcategory of myelodysplastic syndromes in the past. Recently, the term has been eliminated from the WHO based classification of myelodysplastic syndromes. The reason is that the percentage of peripheral blood blasts required for the diagnosis of acute myeloid leukemia has been reduced to 20%. The elimination of the RAEB-T term by the WHO experts has created confusion and ongoing arguments. Currently, according to WHO classification, the vast majority of RAEB-T cases are best classified as acute leukemias (acute leukemias with multilineage dysplasia following myelodysplastic syndrome). A minority of cases are part of RAEB-2. https://github.com/monarch-initiative/mondo/issues/5268 RAEB-t refractory anemia with excess blasts in transformation MONDO:0015694 A melanoma (disease) that involves the mucosa. melanoma (disease) of mucosa mucosa melanoma mucosa melanoma (disease) malignant melanoma of the mucosa MONDO:0015695 A form of combined immunodeficiency characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the ORAI1 and STIM1 genes: CID due to ORAI1 deficiency and CID due to STIM1 deficiency. immune dysfunction due to T-cell inactivation due to calcium entry defect combined immunodeficiency due to CRAC channel dysfunction MONDO:0015696 Good syndrome, also known as thymoma-immunodeficiency, is a very rare acquired immunodeficiency syndrome characterized by the association of thymoma and combined B-cell and T-cell immunodeficiency of adult onset with increased susceptibility to infections. thymoma with hypogammaglobulinemia thymoma-immunodeficiency thymoma-immunodeficiency syndrome immunodeficiency with thymoma Good syndrome MONDO:0015697 immunoglobulin heavy chain deficiency MONDO:0015698 A rare, primary humoral immunodeficiency of childhood characterized by decreasing serum levels of immunoglobulin G (IgG) as maternal antibodies clear the circulation while serum levels of immunoglobulin A and immunoglobulin M remain normal or are slightly decreased. Diagnosis may be suspected after the age of six months when a child's own synthesis of IgG should accelerate but it must be confirmed retrospectively after normalization of all serum immunoglobulin levels is seen by ages 2-6. This disorder may be caused by inadequate activation of progenitor B cells, defective class-switching or may even represent a maturational variant. Typically, a normal response to protein antigens is found while there is a notably diminished response to viral and bacterial polysaccharide antigens. Clinical presentation may include recurrent infections especially those of the respiratory tract. Despite increased susceptibility to infection in childhood, this disorder is self-limited with minimal implications for a normal life span. THI transient hypogammaglobulinemia of infancy transient hypogammaglobulinemia of infancy MONDO:0015699 immunodeficiency due to C1, C4, or C2 component complement deficiency immunodeficiency due to a C1, C4, or C2 component complement deficiency immunodeficiency due to an early component of complement deficiency immunodeficiency due to a classical component pathway complement deficiency MONDO:0015700 A genetic deficiency of any membrane attack complex (MAC, also known as terminal component complex (TCC)) component of the complement system (C5, C6, C7, C8, C9). Deficiencies of the terminal complement pathway results in a predisposition to infections, such as invasive meningococcal disease or disseminated gonococcal infection. deficiency of complement of terminal pathway immunodeficiency due to C5 to C9 component complement deficiency immunodeficiency due to a C5 to C9 component complement deficiency terminal complement pathway deficiency immunodeficiency due to a late component of complement deficiency MONDO:0015701 A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus. IL-7R IL-7Ralpha deficiency T-B+ SCID due to IL-7Ralpha deficiency interleukin-7 receptor alpha deficiency T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency MONDO:0015702 CD45 deficiency T-B+ SCID due to CD45 deficiency T-B+ severe combined immunodeficiency due to CD45 deficiency MONDO:0015703 T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta MONDO:0015704 familial scaphocephaly syndrome MONDO:0015705 Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. AR-CNM centronuclear myopathy, autosomal recessive autosomal recessive centronuclear myopathy MONDO:0015706 Mosaic trisomy chromosome 1 Mosaic trisomy type 1 trisomy 1 mosaicism mosaic trisomy 1 MONDO:0015708 immuno-osseous dysplasia MONDO:0015712 Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (incl. microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect), anal atresia, and cryptorchidism. https://github.com/monarch-initiative/mondo/issues/3492 non-distal duplication 10q non-distal trisomy type 10q non-telomeric trisomy 10q non-distal trisomy 10q MONDO:0015713 idiopathic central precocious puberty MONDO:0015714 secondary central precocious puberty MONDO:0015715 Severe hemophilia B is a form of hemophilia B characterized by a large deficiency of factor IX leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. severe factor IX deficiency severe hemophilia type B severe hemophilia B MONDO:0015716 Moderately severe hemophilia B is a form of hemophilia B characterized by factor IX deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. moderately severe factor IX deficiency moderately severe hemophilia type B moderately severe hemophilia B MONDO:0015717 Mild hemophilia B is a form of hemophilia B characterized by a small deficiency of factor IX leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. mild factor IX deficiency mild hemophilia type B mild hemophilia B MONDO:0015718 Mosaic trisomy 12 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by developmental or growth delay, short stature, craniofacial dysmorphism (e.g. turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (e.g. atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry, and intellectual disability have also been reported. Mosaic trisomy chromosome 12 Mosaic trisomy type 12 trisomy 12 mosaicism mosaic trisomy 12 MONDO:0015719 Severe hemophilia A is a form of hemophilia A characterized by a large deficiency of factor VIII leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. severe factor VIII deficiency severe hemophilia type A severe hemophilia A MONDO:0015720 Moderately severe hemophilia A is a form of hemophilia A characterized by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. moderately severe factor VIII deficiency moderately severe hemophilia type A moderately severe hemophilia A MONDO:0015721 Mild hemophilia A is a form of hemophilia A characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. mild factor VIII deficiency mild hemophilia type A mild hemophilia A MONDO:0015722 Congenital vitamin K-dependent coagulation factors deficiency involving multiple coagulation factors. https://github.com/monarch-initiative/mondo/issues/4069 congenital vitamin K-dependent coagulation factors combined deficiency vitamin K-dependent clotting factors, combined deficiency of congenital vitamin K-dependent coagulation factors deficiency MONDO:0015723 Trisomy 12p is an extremely rare chromosomal disorder (over 30 cases reported worldwide) characterized by craniofacial malformations (round face, prominent cheeks, high bulging forehead, broad and flat nasal bridge, short nose with anteverted nostrils, long philtrum, prominent and everted lower lip, low-set ears, abnormally folded helix, protuberant antihelix), postnatal growth retardation, mental and psychomotor retardation, generalized hypotonia, abnormally short wide hands and/or other abnormalities. Duplication 12p trisomy type 12p 12p duplication 12p trisomy chromosome 12p duplication partial trisomy 12p trisomy 12p MONDO:0015724 Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (incl. microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated. https://github.com/monarch-initiative/mondo/issues/3492 non-distal duplication 13q non-distal trisomy type 13q non-telomeric trisomy 13q non-distal trisomy 13q MONDO:0015725 Mosaic trisomy 14 is a rare chromosomal disorder in which there are 3 copies (trisomy) of chromosome 14 in some cells of the body, while other cells have the usual two copies. The extent and severity of features in affected individuals can vary. Signs and symptoms that have been most commonly reported include intrauterine growth restriction ; failure to to thrive ; developmental delay; intellectual disability; distinctive facial characteristics; structural malformations of the heart; and other physical abnormalities. This condition is most often caused by an error in cell division in the egg or sperm cell before conception, or in fetal cells after fertilization. Treatment is directed toward the specific signs and symptoms in each individual. Mosaic trisomy type 14 Mosaic trisomy chromosome 14 trisomy 14 mosaicism mosaic trisomy 14 https://rarediseases.info.nih.gov/diseases/1327/mosaic-trisomy-14 MONDO:0015726 https://github.com/monarch-initiative/mondo/issues/3492 distal duplication 14q distal trisomy type 14q telomeric duplication 14q trisomy 14qter distal trisomy 14q MONDO:0015727 Mosaic trisomy 15 is a rare chromosomal anomaly syndrome principally characterized by intrauterine growth restriction, congenital cardiac anomalies (incl. ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (incl. hypertelorism, downslanting palpebral fissures, wide nasal bridge). Patients also present brain (e.g. hypoplastic cerebellum, ventricular asymmetry), renal (e.g. small dysplastic kidneys), and/or genital (undescended testis, small penis, hypoplastic labia majora) anomalies. Digital and skin pigmentation abnormalities have also been reported. Mosaic trisomy chromosome 15 Mosaic trisomy type 15 trisomy 15 mosaicism chromosome 15, trisomy mosaicism mosaic trisomy 15 MONDO:0015728 https://github.com/monarch-initiative/mondo/issues/3492 distal duplication 15q distal trisomy type 15q telomeric duplication 15q trisomy 15qter distal trisomy 15q MONDO:0015729 Mosaic trisomy 16 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (e.g. ventricular septal defect) and genital (e.g. hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (e.g. clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay. Mosaic trisomy chromosome 16 Mosaic trisomy type 16 trisomy 16 mosaicism mosaic trisomy 16 MONDO:0015730 Mosaic trisomy 17 is a rare chromosomal anomaly syndrome, with a highly variable clinical presentation, mostly characterized by growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (e.g. ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (e.g. cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported. Mosaic trisomy chromosome 17 Mosaic trisomy type 17 trisomy 17 mosaicism chromosome 17 duplication chromosome 17 trisomy chromosome 17, trisomy chromosome 17, trisomy mosaicism trisomy 17 mosaic trisomy 17 MONDO:0015731 High anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies, with or without a rectourogenital fistula, located above the pubococcygeal line (i.e. anorectal agenesis, rectal agenesis, atresia, or stenosis). Patients may present with meconuria, pyuria, strangury, and fecal and urinary incontinence. high anorectal malformation MONDO:0015732 Intermediate anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying between the pubococcygeal line and the ischial tuberosity (e.g., rectovestibular and rectovaginal fistulas in the female, rectobulbar fistula in the male, and anal agenesis). Patients may present with failure to pass meconium, failure to thrive, and recurrent urinary tract infections. intermediate anorectal malformation MONDO:0015733 Low anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying below the ischial tuberosity (e.g., anovestibular fistula in female, perineal and anocutaneous fistulas, and anal stenosis). Patients may present with failure to pass meconium, failure to thrive, and chronic constipation. low anorectal malformation MONDO:0015734 Rectal duplication is a rare congenital anorectal malformation characterized by an egg-like, cystic, mucus-filled mass, composed of intestinal mucosal lining and smooth muscle tissue. Commonly they present in childhood with symptoms of recurrent urinary tract infections, gastroenteritis, obstruction, perianal sepsis and rectal bleeding. Drainage of mucus or pus from the anus is also a typical presenting sign. The majority are found in the retro-rectal space where they communicate with, or are contiguous to, the rectum. rectal duplication MONDO:0015735 Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM) characterized by severe hypotonia with little spontaneous movement in neonates. https://github.com/monarch-initiative/mondo/issues/4069 severe congenital (neonatal) NM severe congenital nemaline myopathy https://rarediseases.info.nih.gov/diseases/12821/severe-congenital-nemaline-myopathy MONDO:0015736 Intermediate nemaline myopathy is a type of nemaline myopathy (NM) that shows features of typical NM in neonates with a more severe progression. Intermediate congenital NM Intermediate congenital nemaline myopathy intermediate nemaline myopathy MONDO:0015737 Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM) characterized by facial and skeletal muscle weakness and mild respiratory involvement. typical congenital nemaline myopathy typical nemaline myopathy MONDO:0015738 Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM) characterized by distal muscle weakness, and sometimes slowness of muscle contraction. mild nemaline myopathy childhood-onset nemaline myopathy https://rarediseases.info.nih.gov/diseases/7171/childhood-onset-nemaline-myopathy MONDO:0015739 Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset. adult-onset nemaline myopathy https://rarediseases.info.nih.gov/diseases/12824/adult-onset-nemaline-myopathy MONDO:0015740 Trisomy 18p is an extremely rare chromosomal anomaly with a poorly defined clinical phenotype. Reported manifestations include short stature, mild, moderate or severe developmental delay and intellectual disability, variable but mild facial dysmorphism, and epilepsy. Duplication 18p Duplication of the short arm of chromosome 18 trisomy of the short arm of chromosome 18 trisomy type 18p 18p duplication 18p trisomy chromosome 18p duplication partial trisomy 18p trisomy 18p MONDO:0015741 https://github.com/monarch-initiative/mondo/issues/3492 distal duplication 18q distal trisomy type 18q telomeric duplication 18q trisomy 18qter distal trisomy 18q MONDO:0015742 Periventricular leukomalacia (PVL) is a brain injury disorder characterized by the death of the white matter of the brain due to softening of the brain tissue. It can affect fetuses or newborns, and premature babies are at the greatest risk of the disorder. PVL is caused by a lack of oxygen or blood flow to thearea around the ventricles of the brain, which results in the death of brain tissue. Although babies with PVL generally have no apparent signs or symptoms of the disorder at delivery, they are at risk for motor disorders, cerebral palsy, delayed mental development, coordination problems, and vision and hearing impairments. There is no cure for PVL. Treatment is generally supportive. Prognosis is dependent on the extent of damage to the ventricles. PVL periventricular leukomalacia https://rarediseases.info.nih.gov/diseases/10285/periventricular-leukomalacia MONDO:0015743 Idiopathic bilateral vestibulopathy is a rare otorhinolaryngologic disease characterized by dysfunction of both peripheral labyrinths or of the eighth nerves, which presents with persistent unsteadiness of gait (particularly in darkness, during eye closure or under impaired visual conditions, or when standing/walking on uneven, soft or wobbly ground) and oscillopsia associated with head movements. The disease may be progressive, presenting no episodes of vertigo, or sequential, presenting recurrent episodes of vertigo. idiopathic bilateral vestibulopathy MONDO:0015744 Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (e.g. clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations. https://github.com/monarch-initiative/mondo/issues/3492 distal duplication 19q distal trisomy type 19q telomeric duplication 19q trisomy 19qter distal trisomy 19q MONDO:0015745 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality. https://github.com/monarch-initiative/mondo/issues/5588 microcephaly-polymicrogyria-corpus callosum agenesis syndrome MONDO:0015746 Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic spem injection, are frequent. Male infertility due to round-headed spermatozoa male infertility due to globozoospermia male infertility due to round-headed spermatozoa round-headed sperm syndrome globozoospermia male infertility due to globozoospermia MONDO:0015748 White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa. White sponge nevus of Cannon hereditary mucosal leukokeratosis white sponge nevus white sponge nevus of Cannon hereditary mucosal leukokeratosis MONDO:0015749 Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay. https://github.com/monarch-initiative/mondo/issues/3664 Del(6)(q16) Prader-Willi-like syndrome due to deletion 6q16 monosomy 6q16 6q16 deletion syndrome MONDO:0015751 Capra-DeMarco syndrome is characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism. Berant syndrome Capra-DeMarco syndrome familial scaphocephaly-radioulnar synostosis syndrome craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome MONDO:0015752 This syndrome is characterized by severe intellectual deficit, kyphosis with onset in childhood and cataract with onset in late adolescence. https://github.com/monarch-initiative/mondo/issues/5588 intellectual disability-cataracts-kyphosis syndrome MONDO:0015753 Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis. Cap disease congenital myopathy with caps cap myopathy https://rarediseases.info.nih.gov/diseases/11915/cap-myopathy MONDO:0015755 Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without musclar weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus. myopathy with hexagonally cross-linked tubular arrays MONDO:0015756 myeloid hemopathy MONDO:0015757 lymphoid hemopathy MONDO:0015758 primary cutaneous T-cell lymphoma MONDO:0015759 The most common type of non-Hodgkin lymphoma. It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003 B-cell NHL B-cell lymphoma B-cell non Hodgkin's lymphoma B-cell non-Hodgkin lymphoma B-cell non-Hodgkin's lymphoma lymphomas non-Hodgkin's B-cell non-Hodgkin's B-cell lymphoma non-Hodgkin's lymphoma B-cell B-cell non-Hodgkin lymphoma MONDO:0015760 A non-Hodgkin lymphoma of T-cell lineage. It includes the T lymphoblastic lymphoma and the mature T- and NK-cell lymphomas. -- 2003 T cell lymphoma T-cell NHL T-cell and NK-cell non-Hodgkin lymphoma T-cell and NK-cell non-Hodgkin's lymphoma T-cell lymphoma T-cell non-Hodgkin lymphoma T-cell non-Hodgkin's lymphoma non-Hodgkin's T-cell lymphoma T-cell non-Hodgkin lymphoma MONDO:0015761 Trisomy 10p is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10. trisomy type 10p 10p duplication 10p trisomy Duplication 10p chromosome 10p duplication partial trisomy 10p trisomy 10p MONDO:0015762 Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. PFIC cholestasis, progressive familial intrahepatic progressive familial intrahepatic cholestasis MONDO:0015763 Mosaic trisomy 2 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intrauterine growth restriction, growth and motor delay, craniofacial dysmorphism (e.g. microcephaly, hypertelorism, micro/anophthalmia, midface hypoplasia, cleft lip/palate), congenital heart and neural tube defects, as well as various skeletal (e.g. scoliosis, radioulnar hypoplasia, preaxial polydactyly) and gastrointestinal (e.g. intestinal malrotation, Hirschsprung disease) anomalies. Central nervous system malformations (including ventriculomegaly, thin corpus callosum, spina bifida) have also been reported. Mosaic trisomy chromosome 2 Mosaic trisomy type 2 trisomy 2 mosaicism mosaic trisomy 2 MONDO:0015764 Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (i.e. ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (e.g. horseshoe kidneys), have also been reported. Mosaic trisomy chromosome 20 Mosaic trisomy type 20 mosaic trisomy 20 MONDO:0015765 https://github.com/monarch-initiative/mondo/issues/4069 congenital myopathy with cores MONDO:0015766 Cholera is an infectious disease, caused by intestinal infection with Vibrio cholerae, characterized by massive watery diarrhea and severe dehydration that can lead to shock and death if left untreated. Vibrio cholerae Vibrio cholerae caused disease or disorder Vibrio cholerae disease or disorder Vibrio cholerae infectious disease cholera - Vibrio cholerae cholera due to Vibrio cholerae Vibrio cholerae infection cholera https://rarediseases.info.nih.gov/diseases/6043/cholera MONDO:0015767 Trisomy 4p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 4, with a highly variable phenotype, typically characterized by pre- and postnatal growth delay, psychomotor developmental delay and craniofacial dysmorphism (microcephaly, prominent glabelle, hypertelorism, enlarged ears with abnormal helix and antihelix, bulbous nose with flat or depressed nasal bridge, long philtrum, retrognathia with pointed chin). Additional features include skeletal (rocker bottom feet, arachnodactyly, camptodactyly) and renal malformations, cardiac defects, ocular abnormalities and abnormal genitalia in males. Duplication 4p Duplication of the short arm of chromosome 4 trisomy of the short arm of chromosome 4 trisomy type 4p 4p duplication 4p trisomy chromosome 4p duplication partial trisomy 4p trisomy 4p MONDO:0015768 Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit. Duplication 5p Duplication of the short arm of chromosome 5 trisomy of the short arm of chromosome 5 trisomy type 5p 5p duplication 5p trisomy chromosome 5p duplication partial trisomy 5p trisomy 5p MONDO:0015769 Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay. https://github.com/monarch-initiative/mondo/issues/3492 distal duplication 6p distal trisomy type 6p telomeric duplication 6p trisomy 6pter distal trisomy 6p MONDO:0015770 Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH). congenital hypogonadotropic hypogonadism MONDO:0015771 Mosaic trisomy 7 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, mostly characterized by blaschkolinear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (e.g. frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears, and micrognathia), and genital anomalies (e.g. undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported. Mosaic trisomy type 7 Mosaic trisomy chromosome 7 trisomy 7 mosaicism mosaic trisomy 7 https://rarediseases.info.nih.gov/diseases/5354/mosaic-trisomy-7 MONDO:0015772 Trisomy 8q is a very rare disorder characterized by duplication of the long arm of chromosome 8. The most commonly associated abnormalities include low birth weight, craniofacial abnormalities (prominent forehead, flat occiput, hypertelorism, upslanting palpebral fissures, ear and nose deformities, thin upper lips), congenital heart defects, skeletal defects, psychomotor retardation. Phenotypic features vary in relation to the duplication size. Duplication 8q trisomy type 8q 8q duplication 8q trisomy chromosome 8q duplication partial trisomy 8q trisomy 8q MONDO:0015773 Fibular dimelia-diplopodia syndrome is a rare developmental anomaly. leg duplication-mirror foot syndrome fibular dimelia-diplopodia syndrome MONDO:0015774 Thoraco-abdominal enteric duplication is a rare, syndromic intestinal malformation characterized by single or multiple smooth-walled, often tubular, cystic lesions, which on occasion contain ectopic gastric mucosa, located in the thorax (usually in the posterior mediastinum and to the right of the midline) and in the abdomen. Infants usually present with respiratory distress and older patients with heartburn, abdominal pain, vomiting and/or malena. Vertebral anomalies in the lower cervical spine, with CNS involvement, are frequently present and complications, such as bowel obstruction, perforation and intussusception, have also been reported. thoraco abdominal enteric duplication thoraco-abdominal enteric duplication https://rarediseases.info.nih.gov/diseases/5181/thoraco-abdominal-enteric-duplication MONDO:0015775 Nonrhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata, a group of diseases in which the common characteristic is bone calcifications near joints from birth. Nonrhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission. non-rhizomelic chondrodysplasia punctata MONDO:0015776 Rhizomelic chondrodysplasia is a form chondrodysplasia punctata, a group of diseases in which the common characteristic is calcifications near joints at birth. RCDP chondrodysplasia punctata, rhizomelic form rhizomelic chondrodysplasia punctata rhizomelic chondrodysplasia punctata syndrome rhizomelic dwarfism rhizomelic chondrodysplasia punctata https://rarediseases.info.nih.gov/diseases/13160/rhizomelic-chondrodysplasia-punctata MONDO:0015777 A hypothyroidism that occurs in an adult. https://github.com/monarch-initiative/mondo/issues/254 rare adult hypothyroidism adult hypothyroidism MONDO:0015778 A hypothyroidism that is part of a larger syndrome. syndrome associated with hypothyroidism syndromic hypothyroidism syndromic hypothyroidism MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development. 45,X/46,XY MGD 45,X/46,XY disorder of Sex development 45,X/46,XY gonadal dysgenesis 45,X0/46,XY MGD 45,X0/46,XY mixed gonadal dysgenesis Mixed gonadal dysgenesis XY/X0 45,X/46,XY mixed gonadal dysgenesis MONDO:0015780 Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer. DKC MONDO:DC Zinsser-Engman-Cole syndrome dyskeratosis congenita Hoyeraal-Hreidarsson syndrome Zinsser Cole Engman syndrome Editor note: in ORDO this is X-linked but this is the inheritance-neutral form and non-X-linked forms exist dyskeratosis congenita https://rarediseases.info.nih.gov/diseases/2007/dyskeratosis-congenita-x-linked MONDO:0015781 Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterised by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit. https://github.com/monarch-initiative/mondo/issues/5588 Seaver-Cassidy syndrome Seaver Cassidy syndrome facial dysmorphism shawl scrotum joint laxity hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anomalies facial dysmorphism-shawl scrotum-joint laxity syndrome MONDO:0015782 Dysmorphism-cleft palate-loose skin syndrome is a rare, genetic developmental defect during embryogenesis characterized by severe psychomotor delay, intellectual disability, congential, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (incl. elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, pectus excavatum, severe scoliosis, hypoplastic scrotum, and mixed hearing loss. dysmorphism-cleft palate-loose skin syndrome MONDO:0015783 Prader-Willi syndrome (Type 1) Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 MONDO:0015784 Prader-Willi Syndrome (Type 2) Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 MONDO:0015785 Prader-Willi syndrome due to translocation MONDO:0015786 Prader-Willi syndrome due to imprinting mutation MONDO:0015787 A form of hemophilia A that manifests in some women with mutations in the F8 gene (Xq28), encoding coagulation factor VIII. symptomatic form of hemophilia A in female carriers MONDO:0015788 A form of hemophilia B (see this term) that manifests in some women with mutations in the F9 gene (Xq28), encoding coagulation factor IX. symptomatic form of hemophilia B in female carriers MONDO:0015790 Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired (hereditary CDI and acquired CDI). CDI neurogenic diabetes insipidus diabetes insipidus cranial type diabetes insipidus neurogenic diabetes insipidus neurohypophyseal central diabetes insipidus MONDO:0015791 Precocious puberty caused by sex hormones. GIPP gonadotropin independent precocious puberty gonadotropin-independent precocious puberty precocious pseudopuberty peripheral precocious puberty MONDO:0015792 A common, self-limiting thyroid disorder seen in preterm infants that is characterized by abnormally low serum levels of thyroxine and free thyroxine with normal serum levels of thyroid stimulating hormone. THOP hypothyroxinemia of prematurity transient hypothyroxinemia of prematurity transient congenital hypothyroidism MONDO:0015793 moderate multiminicore disease with hand involvement MONDO:0015794 multicore myopathy, antenatal onset, with arthrogryposis multiminicore myopathy, antenatal onset, with arthrogryposis antenatal multiminicore disease with arthrogryposis multiplex congenita MONDO:0015795 Embryonal sarcoma of the liver is a rare primary malignant hepatic neoplasm of childhood of mesenchymal origin. It can rarely occur in adults. It is characterized by abdominal mass, right upper quadrant or epigastric pain, nausea, anorexia, intermittent fever or headache. UES embryonal sarcoma of the liver undifferentiated sarcoma of the liver undifferentiated embryonal sarcoma of the liver MONDO:0015796 A condition of lung damage that is characterized by bilateral pulmonary infiltrates (pulmonary edema) rich in neutrophils, and in the absence of clinical heart failure. This can represent a spectrum of pulmonary lesions, endothelial and epithelial, due to numerous factors (physical, chemical, or biological). acute lung injury MONDO:0015797 UV-sensitive syndrome is a condition that is characterized by sensitivity to the ultraviolet (UV) rays in sunlight. Even a small amount of sun exposure can cause a sunburn in affected individuals. In addition, these individuals can have freckles, dryness, or changes in coloring (pigmentation) on sun-exposed areas of skin after repeated exposure. Some people with UV-sensitive syndrome have small clusters of enlarged blood vessels just under the skin (telangiectasia), usually on the cheeks and nose. Although UV exposure can cause skin cancers, people with UV-sensitive syndrome do not have an increased risk of developing these forms of cancer compared with the general population. UV sensitive syndrome UVSS UV-sensitive syndrome https://rarediseases.info.nih.gov/diseases/10947/uv-sensitive-syndrome MONDO:0015798 A multinodular intermediate fibroblastic neoplasm that arises from soft tissue or viscera, in children and young adults. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes, and plasma cells. IMT inflammatory fibrosarcoma inflammatory myofibroblastic neoplasm inflammatory myofibroblastic tumor inflammatory pseudotumor inflammatory myofibroblastic tumor https://rarediseases.info.nih.gov/diseases/7146/inflammatory-myofibroblastic-tumor MONDO:0015799 Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC. Smith McCort dysplasia Smith-McCort dwarfism Smith-McCort dysplasia https://rarediseases.info.nih.gov/diseases/10620/smith-mccort-dysplasia MONDO:0015800 This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis. osteosclerosis-developmental delay-craniosynostosis syndrome MONDO:0015801 hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation MONDO:0015802 Autosomal dominant form of non-syndromic intellectual disability. autosomal dominant mental retardation autosomal dominant non-syndromic intellectual disability autosomal dominant non-syndromic mental retardation non-syndromic intellectual disability, autosomal dominant Editor note: wrongly classified in ORDO, see https://github.com/monarch-initiative/monarch-disease-ontology/issues/407 - check also Koolen-de vries autosomal dominant non-syndromic intellectual disability https://rarediseases.info.nih.gov/diseases/12107/autosomal-dominant-non-syndromic-intellectual-disability MONDO:0015803 Botulism that is caused by toxin that is produced in a wound contaminated with Clostridium botulinum. cutaneous infectious botulism cutaneous toxin-mediated botulism inoculation botulism skin infectious botulism skin toxin-mediated botulism wound botulism MONDO:0015804 A botulism that occurs between 28 days to one year of life.. botulism of infancy infant intestinal botulism infant intestinal toxemia botulism infant intestinal toxin-mediated botulism infantile botulism infantile onset botulism infant botulism MONDO:0015805 A rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia. The disease affects infants (infant botulism) and very rarely adults (adult intestinal botulism). intestinal colonization botulism intestinal toxemia botulism intestinal toxin-mediated botulism intestinal botulism MONDO:0015806 A very rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia. adult intestinal colonization botulism adult intestinal toxemia botulism adult intestinal toxin-mediated botulism infant-like botulism intestinal botulism of adults adult intestinal botulism MONDO:0015807 myopic maculopathy myopic macular degeneration MONDO:0015808 Folliculotropic mycosis fungoides is a rare variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by the presence of folliculotropic infiltrates in patch-plaque lesions usually involving the head and neck area. follicular mucinosis type mycosis fungoides follicular mycosis fungoides folliculotropic mycosis fungoides mycosis fungoides-associated follicular mucinosis alopecia mucinosa (t cell lymphoma) folliculotropic mycosis fungoides MONDO:0015809 A variant of mycosis fungoides, characterized by an exclusively intraepidermal atypical (cerebriform) lymphocytic infiltrate. Patients present with a localized psoriasiform or hyperkeratotic patch or plaque, usually in the extremities. Extracutaneous dissemination of the disease has never been reported. localised reticulosis localized reticulosis pagetoid reticulosis pagetoid reticulosis, Woringer-Kolopp type localized pagetoid reticulosis MONDO:0015810 primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma MONDO:0015811 Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma is a rare form of primary cutaneous T-cell lymphoma characterized by rapidly progressing, localized or disseminated nodules, tumors or eczematous skin lesions. It has a particularly aggressive clinical course with a high tendency to spread, in advanced stages, to extracutaneous locations (the central nervous system, lung, testes). Lymph nodes are often spared. Berti lymphoma primary cutaneous epidermotropic cytotoxic CD8+ T-cell lymphoma primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma MONDO:0015812 Primary cutaneous gamma/delta-positive T-cell lymphoma is a rare, usually aggressive, subtype of cutaneous T-cell lymphoma characterized by infiltration of the epidermis, dermis or subcutaneous tissue by a clonal population of mature, gamma/delta positive cytotoxic T-cells. Typically it presents with ulcerating plaques, tumors, or subcutaneous nodules on the skin of the extremities, however, frequent involvement of mucosal and extranodal sites (such as the nasal cavity, gastrointestinal tract or lungs) is also observed. Cases associated with panniculitis may present with hemophagocytic syndrome (abrupt onset of fever, rash, cytopenia, hepatosplenomegaly and neurological compromise). Infiltration of lymph nodes, spleen and bone marrow is uncommon and resistance to multilineage chemotherapy is reported. primary cutaneous gamma/delta-positive T-cell lymphoma MONDO:0015813 Extranodal lymphoma of lymphoid tissue associated with mucosa that is in contact with exogenous antigens. Many of the sites of these lymphomas, such as the stomach, salivary gland, and thyroid, are normally devoid of lymphoid tissue. They acquire mucosa-associated lymphoid tissue (malt) type as a result of an immunologically mediated disorder. C-MALT PCMZL Primary cutaneous marginal zone B cell lymphoma of mucosa-associated lymphoid tissue Primary cutaneous marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue Primary cutaneous marginal zone lymphoma of mucosa-associated lymphoid tissue cutaneous Immunocytoma marginal zone B cell lymphoma of skin marginal zone B cell lymphoma of the skin salt lymphoma skin-associated lymphoid tissue lymphoma primary cutaneous marginal zone B-cell lymphoma MONDO:0015814 A primary lymphoma of the skin composed of various numbers of small and large irregular neoplastic follicle center cells. Its morphologic pattern can be nodular, diffuse, or nodular and diffuse. It presents with solitary or grouped plaques and tumors, and it usually involves the scalp, forehead, or trunk. It rarely involves the legs. This type of cutaneous lymphoma tends to remain localized to the skin. Crosti's disease PCFCL Reticulohistiocytoma of the dorsum cutaneous follicle center lymphoma cutaneous follicle centre lymphoma primary cutaneous follicle center lymphoma MONDO:0015816 indolent primary cutaneous T-cell lymphoma MONDO:0015817 aggressive primary cutaneous T-cell lymphoma MONDO:0015818 aggressive primary cutaneous B-cell lymphoma MONDO:0015819 indolent primary cutaneous B-cell lymphoma MONDO:0015820 primary cutaneous B-cell lymphoma MONDO:0015821 Mycosis fungoides (MF) and its variants represent the most common forms of cutaneous T-cell lymphomas. The term MF is restricted to the classical form characterized by the slow progression of patches, plaques and tumors, and to variants with a similar indolent course. mycosis fungoides and variants MONDO:0015822 An instance of neutropenia that is acquired during the lifetime of the individual. acquired neutropenia immunologic neutropenia acquired neutropenia MONDO:0015823 primary immunodeficiency due to a defect in adaptive immunity MONDO:0015824 Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported. Richieri-Costa-Gorlin syndrome Richieri Costa Gorlin syndrome oblique facial clefts oculomaxillofacial dysplasia with oblique facial clefts oculomaxillofacial dysostosis MONDO:0015826 Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs. autosomal dominant spondylocostal dysplasia spondylocostal dysostosis, autosomal dominant autosomal dominant spondylocostal dysostosis MONDO:0015827 Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia. distal renal tubular acidosis (disease) classic RTA dRTA distal renal tubular acidosis distal renal tubular acidosis (disease) familial distal primary acidosis renal tubular acidosis type 1 renal tubular acidosis, distal distal renal tubular acidosis MONDO:0015828 uterovaginal malformation MONDO:0015829 A uterovaginal malformation that is not part of a larger syndrome. isolated uterovaginal malformation nonsyndromic uterovaginal malformation non-syndromic uterovaginal malformation MONDO:0015830 incomplete bilateral aplasia of the Mullerian ducts incomplete bilateral aplasia of the Müllerian ducts partial bilateral aplasia of the Müllerian ducts partial bilateral aplasia of the mullerian ducts MONDO:0015831 unicornuate uterus unilateral aplasia of the Müllerian ducts unilateral aplasia of the mullerian ducts MONDO:0015832 True unicornuate uterus is a rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube with no rudimentary horn. Urinary tract anomalies are frequently associated. complete unilateral Mullerian aplasia complete unilateral Müllerian aplasia complete unilateral aplasia of the Mullerian ducts complete unilateral aplasia of the Müllerian ducts unicornuate uterus without rudimentary horn true unicornuate uterus MONDO:0015833 Pseudounicornuate uterus is a rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube associated with a rudimentary second horn (which can be solid or contain a cavity with functioning endometrium and be communicating or non-communicating). Urinary tract anomalies are frequently associated. incomplete unilateral Mullerian aplasia incomplete unilateral Müllerian aplasia incomplete unilateral aplasia of the Mullerian ducts incomplete unilateral aplasia of the Müllerian ducts unicornuate uterus with rudimentary horn pseudounicornuate uterus MONDO:0015834 Bicervical bicornuate uterus didelphys uterus MONDO:0015835 Bicervical bicornuate uterus and blind hemivagina MONDO:0015836 Bicervical bicornuate uterus with patent cervix and vagina MONDO:0015837 Unicervical bicornuate uterus MONDO:0015838 uterus arcuatus uterus cordiformis cordiform uterus MONDO:0015839 septate uterus MONDO:0015840 Complete septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which elongates from the uterine fundus to the internal or external cervical os. Most often women are asymptomatic, however dysmenorrhoea, unilateral obstruction, and endometriosis could be observed. Unlike urinary tract abnormalities, which are very rarely associated, poor reproductive outcome is frequent. total septate uterus complete septate uterus MONDO:0015841 Partial septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which extends from the uterine fundus and does not reach the internal cervical os (variable lengths and widths may be observed). Although frequently asymptomatic, an increased risk of poor reproductive outcome has been observed. Urinary tract abnormalities are very rarely associated. subtotal septate uterus uterus subseptus partial septate uterus MONDO:0015842 bicornuate uterus MONDO:0015843 uterine hypoplasia MONDO:0015844 agenesis and aplasia of uterine body MONDO:0015845 uterine cervical aplasia and agenesis MONDO:0015846 A uterovaginal malformation that is part of a larger syndrome. syndrome associated with uterovaginal malformation syndromic uterovaginal malformation syndromic uterovaginal malformation MONDO:0015849 A rare vaginal malformation characterized by the presence of a complete or incomplete septum dividing the vagina into two parallel cavities, resulting from failure of reabsorption of the midline uterine septum between the two fused Müllerian ducts during embryogenesis. Patients are often asymptomatic, but may present with menorrhagia, dysmenorrhea, dyspareunia, infertility, or spontaneous abortion. The condition may occur as an isolated malformation or in association with other Müllerian duct anomalies (such as septate uterus or uterus didelphys) or renal abnormalities. longitudinal vaginal septum MONDO:0015850 A rare vaginal malformation characterized by the presence of a complete or incomplete transverse septum at any level of the vagina (most frequently the upper or middle third), resulting from incomplete fusion between the Müllerian duct component and the urogenital sinus component of the vagina during embryogenesis. The condition is only rarely diagnosed in neonates or infants, unless it causes significant hydromucocolpos. Complete septa present with primary amenorrhea, cyclic pelvic pain, dyspareunia, or a pelvic mass consisting of accumulated menstrual blood, while incomplete septa may lead to dyspareunia and dysmenorrhea. transverse vaginal septum MONDO:0015852 excess breast volume or number MONDO:0015853 deficient breast volume or number MONDO:0015854 accessory breasts polymastia supernumerary breasts MONDO:0015855 breasts and/or nipples, aplasia or hypoplasia of isolated congenital amastia isolated congenital breast hypoplasia/aplasia MONDO:0015856 syndromic breast hypoplasia/aplasia MONDO:0015860 anomaly of puberty or/and menstrual cycle MONDO:0015863 Polyembryoma is a type oftumor that develops from the cells of the gonads (testes in men or ovaries in women). Such tumors are called germ cell tumors. Polyembryomas have a distinctivelook because they are composed of many parts that are shaped like embryos, one of the earliest stages of a developing human during pregnancy. Symptoms of a polyembryoma may include an unusual bump or mass in the abdomen which can cause pain in some individuals; puberty at an unusually young age (known as precocious puberty); or irregularities in a female's menstruation. Treatment begins with surgery and may be followed by chemotherapy and/or radiation therapy. The cause of polyembryoma is not yet known. gonadal polyembryoma polyembryoma https://rarediseases.info.nih.gov/diseases/9621/polyembryoma MONDO:0015864 A malignant germ cell tumor characterized by the presence of at least two different germ cell components. The different germ cell components include choriocarcinoma, embryonal carcinoma, yolk sac tumor, teratoma, and seminoma. It occurs in the ovary, testis, and extragonadal sites including central nervous system and mediastinum. combined germ cell neoplasm combined germ cell tumor mixed germ cell cancer mixed germ cell neoplasm mixed germ cell tumor mixed germ cell tumour mixed germ cell tumor MONDO:0015867 A carcinoma arising from the vaginal epithelium. The majority of vaginal carcinomas are squamous cell carcinomas. cancer of the vagina cancer of vagina vagina cancer vaginal cancer vaginal cancer, NOS vaginal malignant epithelial tumor carcinoma of the vagina carcinoma of vagina vagina carcinoma vaginal carcinoma vaginal carcinoma MONDO:0015871 A usually unilateral, benign and well circumscribed biphasic neoplasm that arises from the breast. It usually affects middle-aged women. It is characterized by the presence of a double layer of epithelial cells that are arranged in clefts, surrounded by a cellular, monomorphic spindle cell mesenchymal component. Mitoses are rare. Necrotic changes may be present in large tumors. benign phyllodes neoplasm phyllodes neoplasm phyllodes tumor, benign (morphologic abnormality) benign breast phyllodes tumor benign phyllodes neoplasm of breast benign phyllodes neoplasm of the breast benign phyllodes tumor of breast benign phyllodes tumor of the breast breast benign phyllodes neoplasm breast phyllodes tumor, benign cystosarcoma phyllode of the breast cystosarcoma phylloide of the breast phylloide tumor of the breast BPT benign cystosarcoma phyllodes cystosarcoma phyllode cystosarcoma phyllodes cystosarcoma phyllodes NOS (morphologic abnormality) cystosarcoma phylloide phyllode tumor of the breast benign breast phyllodes tumor MONDO:0015872 Giant adenofibroma of the breast is a rare, benign, fibroepithelial tumor which usually manifests as a unilateral, painless, firm, mobile, slow-growing mass in the breast that measures more than 5 cm. It can be associated with significant asymmetry and/or deformity of the breast and hormonal changes (e.g. puberty, pregnancy, oral contraceptives) can lead to its marked enlargement. giant adenofibroma of the breast MONDO:0015873 Paget disease of the nipple describes a rare presentation of breast cancer, seen most frequently in women aged 50-60, manifesting with nipple drainage and itching, erythema, crusty and excoriated nipple, thickened plaques, and hyperpigmentation (less frequently). It is due to tumor cells invading the nipple-areola complex and represents 1-3% of all new breast cancer diagnoses. Paget disease of the breast mammary Paget disease Paget disease of the nipple Paget's disease of nipple Paget's disease of the nipple nipple Paget's disease PD Paget's disease, mammary Paget disease of the nipple MONDO:0015874 benign ductal tumor of breast MONDO:0015883 Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, cafC)-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner. Halal-Setton-Wang syndrome ectodermal dysplasia with skin anomalies and intellectual disability trichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome Halal Setton Wang syndrome hidrotic ectodermal dysplasia Halal type hidrotic ectodermal dysplasia, Halal type MONDO:0015884 Autosomal dominant form of hypohidrotic ectodermal dysplasia. AD-HED autosomal dominant anhidrotic ectodermal dysplasia hypohidrotic ectodermal dysplasia, autosomal dominant autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015892 Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency. GHIS Growth hormone insensitivity syndromes short stature due to a defect in growth hormone receptor or post-receptor pathway growth hormone insensitivity syndrome MONDO:0015898 Abnormal sex differentiation or congenital disorders of sex development caused by abnormal levels of steroid hormones expressed by the gonads or the adrenal glands, such as in congenital adrenal hyperplasia and adrenal cortex neoplasms. Due to abnormal steroid biosynthesis, clinical features include virilism in females; feminization in males; or precocious sexual development in children. adrenogenital disorder adrenogenital syndrome androgenital syndrome congenital adrenal hyperplasia adrenogenital syndrome MONDO:0015900 rare hypoaldosteronism hypoaldosteronism Editor note: we place the GARD class here as it is implicitly rare hypoaldosteronism disease MONDO:0015902 Major hypertriglyceridemia comprises a group of endocrine diseases characterized by permanently high levels of triglycerides (TG) in the blood (higher than 4g/L after 12 hours of fasting) and an increased risk of acute pancreatitis, making screening essential. major hypertriglyceridemia MONDO:0015903 An autosomal dominant genetic condition caused by mutation(s) in the CETP gene, encoding cholesteryl ester transfer protein. Affected individuals may have increased longevity due to decreased risk of coronary heart disease. HALP1 hyperalphalipoproteinemia MONDO:0015905 A inherited lipid metabolism disorder that is part of a larger syndrome. complex dyslipidemia syndrome associated with inherited lipid metabolism disorder syndromic inherited lipid metabolism disorder rare syndromic dyslipidemia syndromic dyslipidemia MONDO:0015907 epimetaphyseal skeletal dysplasia https://rarediseases.info.nih.gov/diseases/2176/epimetaphyseal-skeletal-dysplasia MONDO:0015908 Chromomycosis is a chronic cutaneous and subcutaneous fungal infection, found mainly in subtropical and tropical areas (in soil and plant debris and transmitted by traumatic inoculation), and characterized clinically by slow growing, verrucous nodules, squamous plaques, or chronic limited lesions which are most commonly found on the lower limbs and which are characterized histologically by the presence of muriform cells. It is caused by dematiaceous fungi, with the main etiological agents being Fonsecaea pedrosoi, Phialophora verrucosa and Cladophialophora carrionii. Rarely, it can be caused by Rhinocladiella aquaspersa. Chromomycosis chromoblastomycosis chromomycosis mossy foot disease Chromoblastomycoses Chromomycoses dermatitis Verrucosa Editor note: check cutaneous vs subcutaneous chromomycosis MONDO:0015909 Anemia resulting from bone marrow failure (aplastic or hypoplastic bone marrow). The production of erythroblasts and red cells is markedly decreased, and it may be associated with decreased production of granulocytes (granulocytopenia) and platelets (thrombocytopenia) as well. Aplastic anemia may be idiopathic or secondary due to bone marrow damage by toxins, radiation, or immunologic factors. aplastic anemia MONDO:0015912 An inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD. Epstein syndrome Fechtner syndrome MYH-9 related disease MYH9-RD MYH9-related disease MYH9-related disorder MYH9-related syndrome MYH9-related syndromic thrombocytopenia May-Hegglin anomaly Sebastian platelet syndrome Sebastian syndrome giant platelet syndrome with thrombocytopenia macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss macrothrombocytopenia and progressive sensorineural deafness Alport syndrome with macrothrombocytopenia Alport syndrome with macrothrombocytopenia, formerly Brodie Chole griffin syndrome Dohle leukocyte inclusions with giant platelets FTNS MHA MYH9 related disorders MYH9 related thrombocytopenia May-Hegglin thrombocytopenia SBS bleeding disorder, Platelet-type, 6 macrothrombocytopenia progressive deafness macrothrombocytopenia with dispersed leukocytic inclusions macrothrombocytopenia with leukocyte inclusions macrothrombocytopenia, nephritis, and deafness macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions matins macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss https://rarediseases.info.nih.gov/diseases/180/myh9-related-thrombocytopenia MONDO:0015914 Primary orthostatic hypotension is a rare type of orthostatic hypotension. It is not a disease per se, but a condition caused by several disorders that affect a specific part of the autonomic nervous system, such as multiple system atrophy, young-onset Parkinson's disease, pure autonomic failure, dopamine beta-hydroxylase deficiency, familial dysautonomia, and pure autonomic failure among others. The autonomic nervous system is the part of the nervous system that regulates certain involuntary body functions such as heart rate, blood pressure, sweating, and bowel and bladder control. Orthostatic hypotension is a form of low blood pressure that happens when standing-up from sitting or lying down. Common symptoms may include dizziness, lightheadedness, generalized weakness, leg buckling, nausea, blurry vision, fatigue, and headaches. Additional symptoms can include chest pain (angina), head and neck pain (often affecting neck and shoulders with a coat hanger distribution), decline in cognitive functioning such as difficulty concentrating, temporary loss of consciousness or “blackout”. Some people with primary orthostatic hypotension may also have high blood pressure when lying down. The treatment depends upon several factors including the specific underlying cause including The treatment depends upon several factors including the specific underlying cause and may include physical counter-maneuvers like lying down, sitting down, squatting clenching buttocks, leg crossing, and support garment and medication. neurogenic orthostatic hypotension primary orthostatic hypotension https://rarediseases.info.nih.gov/diseases/12959/primary-orthostatic-hypotension MONDO:0015915 cerebellar malformation MONDO:0015921 ARX-related epileptic encephalopathy MONDO:0015923 An instance of peripheral neuropathy that is acquired during the lifetime of the individual. acquired peripheral neuropathy acquired peripheral neuropathy MONDO:0015924 Pulmonary arterial hypertension (PAH) is a group of diseases characterized by mean pulmonary artery pressure >20 mmHg and elevated pulmonary arterial resistance leading to right heart failure. PAH is progressive and potentially fatal. PAH may be idiopathic and/ or familial, have overt features of venous/capillary involvement (pulmonary veno-occlusive disease, PVOD/pulmonary capillary hemangiomatosis, PCH), induced by drug or toxin (drug-or toxin-induced PAH), or associated with other diseases like congenital heart disease, connective tissue disease, HIV, schistosomiasis, portal hypertension (PAH associated with other disease). https://github.com/monarch-initiative/mondo/issues/5537 https://github.com/monarch-initiative/mondo/issues/5781 PAH pulmonary arterial hypertension PAH with overt features of venous/capillaries involvement PVOD/PCH PPH idiopathic pulmonary hypertension pulmonary arterial hypertension MONDO:0015925 A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of pulmonary alveoli that extends to the interstitium and beyond leading to diffuse pulmonary fibrosis. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features. ILD interstitial lung disease interstitial lung disease MONDO:0015926 An occupational lung disorder caused by inhalation of dust particles. It is characterized by bilateral interstitial lung infiltrates. Representative examples include asbestosis, silicosis, anthracosis, and talc pneumoconiosis. Black lung disease coal worker's pneumoconiosis pneumoconiosis MONDO:0015927 idiopathic eosinophilic pneumonia MONDO:0015929 thoracic malformation MONDO:0015930 respiratory malformation MONDO:0015932 A non-syndromic urogenital tract malformation that involves the female organism. female organism non-syndromic urogenital tract malformation non-syndromic urogenital tract malformation of female organism nonsyndromic urogenital tract malformation of female isolated urogenital tract malformation of female non-syndromic urogenital tract malformation of female MONDO:0015933 A non-syndromic urogenital tract malformation that involves the male organism. male organism non-syndromic urogenital tract malformation non-syndromic urogenital tract malformation of male organism nonsyndromic urogenital tract malformation of male isolated urogenital tract malformation of male non-syndromic urogenital tract malformation of male MONDO:0015935 extragonadal germinoma MONDO:0015941 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (incl. epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (incl. abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992. https://github.com/monarch-initiative/mondo/issues/5588 Finucane-Kurtz-Scott syndrome Finucane Kurtz Scott syndrome epiphyseal dysplasia hearing loss dysmorphism epiphyseal dysplasia-hearing loss-dysmorphism syndrome https://rarediseases.info.nih.gov/diseases/2178/epiphyseal-dysplasia-hearing-loss-dysmorphism MONDO:0015942 Frontometaphyseal dysplasia (FMD) belongs to the otopalatodigital syndrome spectrum disorder and is characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss. frontometaphyseal dysplasia FMD frontometaphyseal dysplasia MONDO:0015943 Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg-Strauss syndrome, is a systemic vasculitis of small-to medium vessels, characterized by asthma, transient pulmonary infiltrates, and hypereosinophilia. https://github.com/monarch-initiative/mondo/issues/5261 https://github.com/monarch-initiative/mondo/issues/5625 CSS Churg Strauss syndrome Churg-Strauss syndrome Churg-Strauss vasculitis EGPA allergic angiitides allergic angiitides, granulomatous allergic angiitis allergic angiitis and granulomatosis allergic angiitis, granulomatous allergic granulomatoses allergic granulomatosis allergic granulomatosis angiitis allergic granulomatous Angiitides allergic granulomatous and angiitis allergic granulomatous angiitis angiitides, allergic angiitides, allergic granulomatous angiitides, granulomatous allergic angiitis, allergic angiitis, allergic granulomatous angiitis, granulomatous allergic eosinophilic granulomatous Vasculitides eosinophilic granulomatous vasculitis granulomatoses, allergic granulomatosis, allergic granulomatous allergic Angiitides granulomatous allergic angiitis granulomatous angiitides, allergic granulomatous angiitis, allergic granulomatous vasculitides, eosinophilic granulomatous vasculitis, eosinophilic syndrome, Churg-Strauss vasculitides, eosinophilic granulomatous vasculitis, Churg Strauss vasculitis, Churg-Strauss vasculitis, eosinophilic granulomatous eosinophilic granulomatosis with polyangiitis MONDO:0015944 Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula. Russell-Weaver-Bull syndrome blastogenesis defect Russell Weaver Bull syndrome axial mesodermal dysplasia spectrum https://rarediseases.info.nih.gov/diseases/213/axial-mesodermal-dysplasia-spectrum MONDO:0015947 Mendelian disorders of cornification affecting all or most of integument characterized by hyperkeratosis and/or scaling, caused by an inherited modification of the individual's genome. https://github.com/monarch-initiative/mondo/issues/2114 https://github.com/monarch-initiative/mondo/issues/4293 congenital ichthyosis of skin genetic ichthyosis hereditary ichthyosis (disease) inherited genetic ichthyosis congenital ichthyosis fish scale disease fish skin ichthyosis congenita inherited ichthyosis MONDO:0015950 genetic skin tumor inherited skin tumor MONDO:0015951 Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies. photogenodermatosis photogénodermatose genetic photosensitivity genetic skin photosensitivity hereditary photodermatosis MONDO:0015961 genetic head and neck malformation MONDO:0015962 genetic renal tubular disease inherited renal tubular disease MONDO:0015967 Diabetes mellitus that is caused by mutations in a single gene. https://github.com/monarch-initiative/mondo/issues/254 monogenic diabetes rare genetic diabetes mellitus monogenic diabetes MONDO:0015974 Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells. severe combined immunodeficiency (disease) SCID combined T and B cell inborn immunodeficiency severe combined immunodeficiency severe combined immunodeficiency (disease) severe combined immunodeficiency disease severe combined immunodeficiency MONDO:0015975 HIGM with susceptibility to opportunistic infections hyper-IgM syndrome with susceptibility to opportunistic infections MONDO:0015976 HIGM without susceptibility to opportunistic infections hyper-IgM syndrome without susceptibility to opportunistic infections MONDO:0015977 A decreased level of serum immunoglobulins. It may be inherited or acquired. It is caused by decreased or inefficient production of immunoglobulins from B cells or by a decrease in the numbers of B cells themselves. Low levels of immunoglobulins will affect the immune system's ability to combat bacterial infection. Supplementation of immunoglobulins is needed to prevent worsening outcomes. IGHM agammaglobulinemia hypogammaglobulinemia mu heavy chain deficiency Gammaglobulin Deficiency Immunoglobulin Deficiency antibody Deficiency agammaglobulinemia MONDO:0015978 neutrophil disease neutrophilopathy functional neutrophil defect MONDO:0015979 https://github.com/monarch-initiative/mondo/issues/5114 2022-09-01 genetic susceptibility to infections due to particular pathogens Reason: out of scope. MONDO:excludeGroupingClass. Term to consider:MONDO:0020573 inherited disease susceptibility hereditary predisposition to infections MONDO:0015985 Bone dysplasia Azouz type is a form of generalized enchondromatosis with involvement of the spine (so called spondyloenchondromatosis). Spondyloenchondromatosis is a very rare skeletal dysplasia characterized by severe platyspondyly, and mild involvement of hands and feet. bone dysplasia Azouz type bone dysplasia, Azouz type https://rarediseases.info.nih.gov/diseases/920/bone-dysplasia-azouz-type MONDO:0015986 Bilateral renal agenesis is the most profound form of renal agenesis, characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth. bilateral renal aplasia renal agenesis, bilateral bilateral renal agenesis MONDO:0015987 Scimitar syndrome is characterized by a combination of cardiopulmonary anomalies including partial anomalous pulmonary venous return connection of the right lung to the inferior caval vein leading to the creation of a left-to-right shunt. Epibronchial right pulmonary vein syndrome Halasz syndrome congenital pulmonary venolobar syndrome hypogenetic lung syndrome scimitar syndrome MONDO:0015988 Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional. MCDK multicystic renal dysplasia multicystic dysplastic kidney MONDO:0015990 A rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions. focal, segmental or multifocal dystonia MONDO:0015991 Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency). deficiency of citrulline-aspartate ligase ass deficiency citrullinemia MONDO:0015993 Inherited retinal dystrophies that belong to the group of pigmentary retinopathies. CRD cone-rod retinal dystrophy cone rod dystrophy cone-rod dystrophy MONDO:0015994 Atrophie blanche muscular dystrophy white matter spongiosis muscular dystrophy-white matter spongiosis syndrome https://rarediseases.info.nih.gov/diseases/3854/muscular-dystrophy-white-matter-spongiosis MONDO:0015995 Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities. MSBD syndrome mixed sclerosing bone dystrophy dystrophy osseous sclerosing mixed melorheostosis with osteopoikilosis MONDO:0015997 Ectopia lentis-chorioretinal dystrophy-myopia syndrome is characterised by anomalies of the lens (ectopia and cataracts) and retina (generalized tapetoretinal dystrophy and total retinal detachment). Myopia has also been reported. It has been described in four members of the same family, all resulting from a consanguineous marriage. The mode of transmission is autosomal recessive. noble-Bass-Sherman syndrome ectopia lentis chorioretinal dystrophy myopia noble Bass Sherman syndrome ectopia lentis-chorioretinal dystrophy-myopia syndrome MONDO:0015998 Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity. IEL ectopia lentis syndrome familial ectopia lentis isolated lens position anomaly nonsyndromic lens position anomaly congenital ectopic lens isolated ectopia lentis https://rarediseases.info.nih.gov/diseases/12251/isolated-ectopia-lentis MONDO:0015999 A form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter). PPNAD pigmented nodular adrenocortical disease pigmented nodular adrenocortical disease, primary primary pigmented nodular adrenal dysplasia primary pigmented nodular adrenocortical disease https://rarediseases.info.nih.gov/diseases/10906/primary-pigmented-nodular-adrenocortical-disease MONDO:0016000 familial isolated hypoparathyroidism due to impaired PTH secretion MONDO:0016001 2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine. 2-hydroxyglutaric acidemia 2-hydroxyglutaric aciduria 2-HGA 2-hydroxyglutaric aciduria https://rarediseases.info.nih.gov/diseases/10761/2-hydroxyglutaric-aciduria MONDO:0016002 A form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility. https://github.com/monarch-initiative/mondo/issues/4220 https://github.com/monarch-initiative/mondo/issues/4918 https://github.com/monarch-initiative/mondo/issues/4948 EDS 6 EDS, kyphoscoliotic type EDS, oculoscoliotic type EDS6 Ehlers-Danlos syndrome kyphoscoliotic type Ehlers-Danlos syndrome, kyphoscoliotic type Ehlers-Danlos syndrome, kyphoscoliotic type 1 Ehlers-Danlos syndrome, oculoscoliotic type Ehlers-Danlos syndrome, type 6 kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency nevo syndrome EDS VIA Ehlers-Danlos syndrome type 6A Ehlers-Danlos syndrome, type VIA Ehlers-Danlos syndrome, type VIA, formerly Ehlers-Danlos syndrome, type Via Ehlers-Danlos syndrome, type Via, formerly EDS 6 (formerly) EDS VI EDS6A, formerly EDSKSCL1 Ehlers-Danlos syndrome oculoscoliotic type Ehlers-Danlos syndrome type 6 (formerly) Ehlers-Danlos syndrome type 6A (formerly) Ehlers-Danlos syndrome, kyphoscoliosis type Ehlers-Danlos syndrome, kyphoscoliotic type, 1 Ehlers-Danlos syndrome, ocular-scoliotic type Ehlers-Danlos syndrome, type 6 A Ehlers-Danlos syndrome, type VI kEDS kyphoscoliotic EDS kyphoscoliotic Ehlers-Danlos syndrome Ehlers-Danlos syndrome, kyphoscoliotic type 1 MONDO:0016003 Human ehrlichiosis and anaplasmosis describe a group of acute febrile tick-borne diseases characterized by an overlapping clinical picture that includes fever, headache, myalgias, arthralgias, skin eruptions, gastrointestinal symptoms and neurological manifestations. Diseases in this group include human monocytotropic ehrlichiosis (HME), human granulocytotropic anaplasmosis (HGA), and human ehrlichiosis ewingii (HEE). human ehrlichiosis ehrlichiosis MONDO:0016004 Aminopterin/Methotrexate embryofetopathy is a syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy. aminopterin embryopathy syndrome fetal aminopterin syndrome aminopterin fetopathy syndrome aminopterin syndrome fetal methotrexate syndrome aminopterin/methotrexate embryofetopathy MONDO:0016005 Indomethacin embryofetopathy refers to the manifestations that may be observed in a fetus or newborn when the mother has taken indomethacin, a potent prostaglandin inhibitor and tocolytic agent that can cross placenta, during pregnancy. Reported adverse fetal/neonatal effects include decreased renal function resulting in oligohydramnios, closure of the ductus arteriosus, and delayed cardiovascular adaptation at birth. These effects are usually transient and reversible. Indomethacin may also be a risk factor for cerebral injury (periventricular leukomalacia) and necrotizing enterocolitisin preterm infants. fetal indomethacin syndrome antenatal indomethacin exposure indomethacin embryofetopathy MONDO:0016006 A multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit. Neill-Dingwall syndrome Cockayne's syndrome dwarfism-retinal atrophy-deafness syndrome progeria-like syndrome progeroid nanism Cockayne syndrome MONDO:0016007 A group of clinical signs observed in newborns exposed in utero to cocaine, a short-acting central nervous system stimulant used as a recreational drug through inhalation of the powder or intravenous injection. Cocaine use during pregnancy is associated with intrauterine growth restriction, low birth weight, seizures, respiratory distress (decreased apnea density and periodic breathing), feeding difficulties, irritability and lability of state, decreased behavioral and autonomic regulation, poor alertness and orientation and cognitive impairment (impaired auditory information processing , visual-spatial delay and subtle language delay) in the offspring. fetal cocaine syndrome cocaine antenatal exposure cocaine fetopathy prenatal cocaine exposure cocaine embryofetopathy MONDO:0016008 Fetal hydantoin syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to the anticonvulsant drug phenytoin, characterized by distinct craniofacial anomalies (hypertelorism and epicanthal folds, short nose and deep nasal bridge, malformed and low set ears, short neck) as well as hypoplastic distal phalanges and underdevelopment of nails of fingers and toes, prenatal and postnatal growth retardation, and neurological impairment (at a 2-3 times higher risk than that of the general population) including cognitive deficits and motor developmental delay. Less commonly, microcephaly, ocular defects, oral clefts, umbilical and inguinal hernias, hypospadias and cardiac anomalies have also been reported. https://github.com/monarch-initiative/mondo/issues/5507 FHS fetal dihydantoin syndrome phenytoin embryofetopathy Dilantin embryopathy phenytoin embryopathy fetal hydantoin syndrome https://rarediseases.info.nih.gov/diseases/6435/fetal-hydantoin-syndrome MONDO:0016009 Fetal trimethadione syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to trimethadione and that is characterized by pre- and post-natal growth retardation, intellectual deficit, developmental and speech delay, craniofacial anomalies (with some similarities to those seen in fetal valproate syndrome), and less commonly, cleft palate, malformations of the heart, urogenital system and limbs. Trimethadione is an antiepileptic drug that has been removed from the market in Europe and is no longer used much in other countries due to teratogenicity and potential side effects. fetal trimethadione syndrome MONDO:0016010 A teratogenic disorder observed in a newborn or child of a mother who was exposed to warfarin during pregnancy. Manifestations include nasal bridge depression, nasal bones hypoplasia, microcephaly, congenital heart disorders, and brachydactyly. di Sala syndrome fetal Coumadin syndrome fetal warfarin syndrome vitamin K antagonist embryopathy vitamin K-antagonist embryofetopathy vitamin K-antagonist embryopathy warfarin embryofetopathy warfarin embryopathy DiSala syndrome congenital warfarin syndrome coumarin embryopathy coumarin syndrome embryofetopathy due to oral anticoagulant therapy fetal anticoagulant syndrome vitamin K antagonist embryofetopathy vitamin K antagonists embryofetopathy warfarin syndrome vitamin K-antagonist embryofetopathy https://rarediseases.info.nih.gov/diseases/8580/warfarin-syndrome MONDO:0016011 Fetal alcohol syndrome (FAS) is a rare malformation syndrome caused by excessive maternal consumption of alcohol during pregnancy. It is characterized by prenatal and/or postnatal growth deficiency (weight and/or height <10th percentile), a unique cluster of minor facial anomalies (short palpebral fissures, flat and smooth philtrum, and thin upper lip) and severe central nervous system (CNS) abnormalities including microcephaly, and cognitive and behavioral impairment (intellectual disability, deficit in general cognition, learning and language, executive function, visual-spatial processing, memory, and attention). FASD fetal alcohol spectrum disorders ARBD ARND FAS alcohol-related neurodevelopmental disorder alcohol-related birth defects static encephalopathy fetal alcohol syndrome MONDO:0016012 Diethylstilbestrol (DES) syndrome is a malformation syndrome reported in offspring (children and grandchildren) of women exposed to DES during pregnancy and is characterized by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women. Reproductive malformations reported in DES syndrome include small, T-shaped uteri and other uterotubal anomalies that increase the risk of miscarriages in women and epididymal cysts, microphallus, cryptorchidism, or testicular hypoplasia in men. DES, a synthetic nonsteroidal estrogen was widely prescribed from 1940-1970 to prevent miscarriage. DES embryofetopathy DES syndrome Distilbene embryofetopathy diethylstilbestrol embryofetopathy antenatal diethylstilbestrol exposure fetal diethylstilbestrol syndrome diethylstilbestrol syndrome https://rarediseases.info.nih.gov/diseases/1859/diethylstilbestrol-syndrome MONDO:0016013 Foetal methylmercury syndrome is characterised by a group of symptoms that may be observed in a foetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury. Methyl mercury antenatal infection Methyl mercury antenatal exposure Minamata disease fetal methylmercury syndrome https://rarediseases.info.nih.gov/diseases/3575/fetal-methylmercury-syndrome MONDO:0016014 Fetal minoxidil syndrome is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken minoxidil during pregnancy. Minoxidil is used in the treatment of malignant renal hypertension and as a topical solution to induce scalp hair growth. Hypertrichosis that gradually diminishes during the first six postnatal months has been reported. Additional reported features include cardiac (congenital great vessel transposition and pulmonary valve stenosis), neurodevelopmental (caudal regression sequence), gastrointestinal, renal, and limb malformations. Conclusive studies are however not available. minoxidil antenatal infection minoxidil antenatal exposure fetal minoxidil syndrome https://rarediseases.info.nih.gov/diseases/2308/fetal-minoxidil-syndrome MONDO:0016015 A teratologic disorder associated with intrauterine exposure of phenorbarbital during the first trimester of pregnancy. Infants are usually asymptomatic but an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism, epicanthus, hypoplasia and low insertion of the nose, low insertion of the ears, prognathism, finger hypoplasia, brachydactyly and hypospadias have been reported in rare cases. phenobarbital antenatal exposure phenobarbital embryopathy MONDO:0016016 Toluene embryopathy is a neurodevelopmental teratologic syndrome due to prenatal exposure to toluene. The disease is characterized by prematurity, low birth weight, dysmorphic features (short palpebral fissures, deep set eyes, low set ears, mid-facial hypoplasia, flat nasal bridge, thin upper lip, micrognathia, spatulate fingertips and small fingernails), central nervous system dysfunctions (intellectual disability, microcephaly, language impairment, hyperactivity, visual dysfunction) and postnatal growth delay. Prenatal exposure to toluene occurs as a result of incidental occupational exposure or solvent abuse during pregnancy. The features of toluene embryopathy often overlap with those seen in fetal alcohol syndrome. https://github.com/monarch-initiative/mondo/issues/3680 toluene embryopathy Hersh Podruch Weisskopk syndrome microcephaly, central nervous system dysfunction, minor craniofacial and limb anomalies, and variable growth deficiency toluene embryopathy MONDO:0016017 Methimazole embryopathy is a teratogenic embryofetopathy that results from maternal exposition to methimazole (MMI; or the parent compound carbimazole) in the first trimester of pregnancy. MMI is an antithyroid thionamide drug used for the treatment of Graves' disease. In the infant, MMI may result in choanal atresia, esophageal atresia, omphalocele, omphalomesenteric duct anomalies, congenital heart disease (such as ventricular septal defect), renal system malformations and aplasia cutis. Additional features that may be observed include facial dysmorphism (short upslanting palpebral fissures, a broad nasal bridge with a small nose and a broad forehead) and athelia/hypothelia. MMI/CMZ embryofetopathy MMI/CMZ embryopathy Methimazole/carbimazole embryofetopathy Methimazole/carbimazole embryopathy methimazole embryofetopathy Methimazole antenatal exposure fetal methimazole syndrome methimazole embryofetopathy https://rarediseases.info.nih.gov/diseases/3573/methimazole-antenatal-exposure MONDO:0016018 Diabetic embryopathy is characterized by congenital anomalies or foetal/neonatal complications in an infant that are linked to diabetes in the mother. diabetic embryopathy MONDO:0016019 A rare, progressive chronic inflammation of a single cerebral hemisphere that usually affects children. It is characterized by severe seizures, loss of motor skills and speech, hemiparesis, and dementia. CFE Rasmussen encephalitis Rasmussen syndrome chronic focal encephalitis RE Rasmussen subacute encephalitis MONDO:0016020 anterior encephalocele frontal encephalocele MONDO:0016022 Early myoclonic encephalopathy (EME) is characterized clinically by the onset of fragmentary myoclonus appearing in the first month of life, often associated with erratic focal seizures and a suppression-burst EEG pattern. early myoclonic encephalopathy early myoclonic encephalopathy with suppression-bursts eme epileptic seizures - myoclonic epileptic seizures, myoclonic myoclonia epileptica myoclonic epilepsy myoclonic seizure myoclonic seizure disorder myoclonus epilepsy early myoclonic encephalopathy MONDO:0016024 https://github.com/monarch-initiative/mondo/issues/4069 shoulder and thorax deformity-congenital heart disease syndrome MONDO:0016025 Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children. https://github.com/monarch-initiative/mondo/issues/4985 Doose syndrome EMAS epilepsy with myoclonic-astatic seizures epilepsy with myoclonic-atonic seizures myoclonic atonic epilepsy myoclonic-astatic epilepsy in early childhood epilepsy with myoclono-astatic crisis mae myoclonic astatic epilepsy myoclonic-astastic epilepsy https://rarediseases.info.nih.gov/diseases/2169/myoclonic-astatic-epilepsy MONDO:0016026 An infantile epilepsy syndrome characterized by early-onset progressive encephalopathy with migrant, continuous myoclonus. Three cases have been reported. The focal continuous myoclonus appeared during the first months of life. Prolonged bilateral myoclonic seizures and generalized tonic-clonic seizures occurred later. Subsequently, a progressive encephalopathy with hypotonia and ataxia appeared. Cortical atrophy was revealed by computed tomography (CT) scan and magnetic resonance imaging (MRI). The aetiology is unknown. infant epilepsy with migrant focal crisis https://rarediseases.info.nih.gov/diseases/2995/infant-epilepsy-with-migrant-focal-crisis MONDO:0016027 A rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life. BFNS benign familal neonatal seizures benign familial convulsion benign familial convulsions benign familial neonatal convulsions benign familial neonatal seizures benign neonatal convulsions seizures, benign familial neonatal benign neonatal seizures MONDO:0016028 A rare neurovascular peripheral pain disorder due to the intermittent blockage of the blood vessels, usually in the lower extremities or hands. This causes hyperemia and inflammation at the origin of burning pain and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder. Primary erythromelalgia is caused by gene mutations. Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, essential thrombocytemia, hypercholesterolemia, mushroom or mercury poisoning, and some autoimmune disorders. erythromelalgia MONDO:0016029 A rare malignant neoplasm of the sinonasal cavity, arising from the basal layers of olfactory neuroepithelial cells in the superior nasal vault, which usually occurs in the 5th to 6th decades of life and is characterized clinically by non-specific symptoms such as progressive ipsilateral nasal block, sinusitis, facial pain, intermittent headaches, hyposmia/dysosmia, rhinorrhea and epistaxis as well as proptosis, diplopia and excessive lacrimation due to orbital extension. With early treatment and in the absence of distant metastases, ENB appears to have a good prognosis (compared to other superior nasal malignancies), despite a high rate of cervical metastases. olfactory neuroblastoma esthesioneuroblastoma MONDO:0016030 Evans syndrome is a rare chronic hematologic disorder characterized by the simultaneous or sequential association of autoimmune hemolytic anemia (AIHA; a disorder in which auto-antibodies are directed against red blood cells causing anemia of varying degrees of severity) with immune thrombocytopenic purpura (ITP; a coagulation disorder in which auto-antibodies are directed against platelets causing hemorrhagic episodes) and occasionally autoimmune neutropenia, in the absence of a known underlying etiology. Evans' syndrome autoimmune hemolytic anemia and autoimmune thrombocytopenia immune pancytopenia Evan syndrome Evans syndrome https://rarediseases.info.nih.gov/diseases/6389/evans-syndrome MONDO:0016031 Friedman-Goodman syndrome faces syndrome facial features (unique), anorexia, cachexia, eye and skin anomalies facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome MONDO:0016032 Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur. congenital short femur femoral intercalary meromelia femoral agenesis/hypoplasia MONDO:0016033 A rare syndrome characterized by low birth weight, delayed growth, intellectual disabillity, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes. https://github.com/monarch-initiative/mondo/issues/5588 Brachmann de Lange syndrome Brachmann-de Lange syndrome Cornelia de Lange syndrome De Lange syndrome CDLS Cornelia de Lange syndrome MONDO:0016034 Tessier cleft number 1,2 cleft lip with or without cleft palate MONDO:0016035 A syndrome that develops following bilateral adrenalectomy for Cushing syndrome. The signs and symptoms result from the presence of an adenocorticotropin-secreting pituitary gland adenoma, and include enlargement of the sella turcica and pressure on the adjacent structures, and skin hyperpigmentation. Nelson's syndrome Ridges-off-the-end syndrome dermal Ridges Nelson syndrome https://rarediseases.info.nih.gov/diseases/7170/nelson-syndrome MONDO:0016037 A poorly circumscribed, intermediate fibrocytic neoplasm arising from the superficial soft tissues. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. superficial Fibromatosis superficial Fibromatosis MONDO:0016038 A rare slow-growing benign neoplasm arising from the soft tissues in children. It is a poorly circumscribed tumor characterized by the presence of chondrocyte-like cells, nodular calcification, nuclear palisading, and in some cases osteoclastic giant cells. Juvenile aponeurotic fibroma Juvenile aponeurotic fibrosis Keasby tumor juvenile aponeurotic fibromatosis calcifying aponeurotic fibroma calcified aponeurotic fibroma MONDO:0016039 https://github.com/monarch-initiative/mondo/issues/4093 inclusion body fibromatosis (disease) Reye tumor Reye's tumor digital fibrous tumor of Reye inclusion body fibromatosis inclusion body fibromatosis (disease) infantile digital fibroma/fibromatosis infantile digital fibromatosis recurring digital fibrous tumor of childhood IDF asymptomatic nodular proliferation of fibrous tissue on the dorsal and lateral aspects of the fingers or toes infantile digital fibromatosis https://rarediseases.info.nih.gov/diseases/8487/infantile-digital-fibromatosis MONDO:0016040 Harlequin syndrome (HSD) is an autonomic disorder occurring at any age and characterized by unilateral flushing and sweating, involving the face and sometimes arm and chest, in condition of thermal, exercise or emotional stress without sympathetic ocular manifestations. However, tonic pupils, parasympathetic oculomotor lesion and pre- or postganglionic sudomotor sympathetic deficit can rarely occur. progressive isolated segmental anhidrosis sudden onset of unilateral flushing and sweating unilateral loss of facial flushing and sweating with contralateral anhidrosis harlequin syndrome https://rarediseases.info.nih.gov/diseases/8610/harlequin-syndrome MONDO:0016041 Congenital microgastria is a rare malformation where the embryological development of the stomach is interrupted, leading to an abnormally small foregut in newborns and characterized by extreme feeding intolerance and malnutrition along with growth retardation and death if untreated. It is usually associated with multiple congenital anomalies. https://github.com/monarch-initiative/mondo/issues/4069 congenital microgastria MONDO:0016042 Late-onset isolated ACTH deficiency is a rare, acquired, pituitary hormone deficiency characterized by secondary adrenal insufficiency, with normal secretion of anterior pituitary hormones, except for ACTH. Patients present with weakness, fatigue, weight loss, anorexia, vomiting/nausea, hypoglycemia, and abnormally low serum ACTH and cortisol levels. Association with autoimmune disease such as Hashimoto's thyroiditis has been described. late-onset isolated ACTH deficiency MONDO:0016043 Isolated cleft lip is a fissure type embryopathy extending from the upper lip to the nasal base. isolated cleft lip (disease) nonsyndromic cleft lip (disease) isolated cleft lip MONDO:0016044 Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate. FLP alveolar cleft lip and palate cleft lip and palate cleft lip-alveolus-palate syndrome cleft lip/palate MONDO:0016045 Tetragametic chimerism is a rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins. 46,XX/46,XY chimerism tetragametic chimerism MONDO:0016046 Familial clubfoot with or without associated lower limb anomalies is a rare congenital limb malformation syndrome characterized by malalignment of the bones and joints of the foot and ankle, with presence of forefoot and midfoot adductus, hindfoot varus, and ankle equinus, presenting as rigid inward turning of the foot towards the midline, in various members of a single family. Hypoplasia of lower leg muscles is a frequently associated finding. Patients may present with other low-limb malformations, such as patellar hypoplasia, oblique talus, tibial hemimelia, and polydactyly. familial clubfoot with or without associated lower limb anomalies MONDO:0016047 An infectious process affecting the internal structures of the eye. endophthalmitis MONDO:0016048 Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal. isolated autosomal dominant hypomagnesemia, Glaudemans type MONDO:0016049 Paradas type congenital myopathy is an early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development. https://github.com/monarch-initiative/mondo/issues/4069 congenital myopathy, Paradas type MONDO:0016051 Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy. Ausems-Wittebol Post-Hennekam syndrome cleft lip-cone rod dystrophy syndrome cleft lip-progressive retinopathy syndrome Ausems Wittebol-Post Hennekam syndrome cleft lip with progressive retinopathy cleft lip-retinopathy syndrome MONDO:0016052 Atypical autism is a pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior. ' atypical autism MONDO:0016053 Isolated cerebellar vermis hypoplasia is a rare, non-syndromic cerebellar malformation characterized by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioral disorders such as attention deficit hyperactivity disorder and generalized anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms. isolated cerebellar vermis hypoplasia MONDO:0016054 brain malformation cerebral malformation MONDO:0016056 microcephaly, primary primary microcephaly true microcephaly isolated congenital microcephaly MONDO:0016057 Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur. bifid cranium craniocele cranium bifidum encephalocele isolated encephalocele MONDO:0016058 paroxysmal dystonia MONDO:0016059 Cleft lip/palate-deafness-sacral lipoma syndrome is characterised by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive. Lowry-Yong syndrome cleft lip/palate-deafness-sacral lipoma syndrome MONDO:0016060 A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus. LC LTEC Larnygeotracheoesophageal cleft congenital cleft larynx laryngeal cleft laryngo-tracheo-esophageal cleft laryngo-tracheo-esophageal diastema tracheal cleft laryngotracheoesophageal cleft MONDO:0016061 immunodeficiency with factor H anomaly MONDO:0016062 Midline cleft of lower lip is a rare anomaly defined as Cleft No. 30 in Tessier's classification. median cleft lower facial stage median cleft lip/mandibule MONDO:0016063 Cowden disease Cowden syndrome Cowden's disease multiple hamartoma syndrome CD MHAM dysplastic gangliocytoma of cerebellum Cowden disease MONDO:0016064 Cleft palate is a fissure type embryopathy that affects the soft and hard palate to varying degrees. palatoschisis uranostaphyloschisis cleft palate MONDO:0016065 Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck, vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993. https://github.com/monarch-initiative/mondo/issues/5588 Mathieu-De Broca-Bony syndrome cleft palate short stature vertebral anomalies cleft palate-short stature-vertebral anomalies syndrome https://rarediseases.info.nih.gov/diseases/1392/cleft-palate-short-stature-vertebral-anomalies MONDO:0016066 Sternal cleft (SC) is a rare idiopathic congenital thoracic malformation characterized by a sternal fusion defect, that can be complete or partial (either superior or inferior), that is usually asymptomatic in the neonatal period (apart from a paradoxical midline thoracic bulging) but that can lead to dyspnea, cough, frequent respiratory infections and increased risk of trauma-related injury to the heart, lungs and major vessels if left untreated. cleft sternum sternum bifidum congenital sternal cleft sternal cleft https://rarediseases.info.nih.gov/diseases/5012/sternal-cleft MONDO:0016067 This syndrome is characterized by progressive sensorineural deafness, alopecia and hypogonadism with LH and GH deficiencies. It has been described in three brothers. It resembles Bjrnstad's syndrome that combines irregular pili torti and deafness. It is probably inherited as and autosomal recessive disorder. alopecia-deafness-hypogonadism syndrome alopecia-sensorineural deafness-hypogonadism syndrome alopecia deafness hypogonadism Crandall syndrome https://rarediseases.info.nih.gov/diseases/1561/crandall-syndrome MONDO:0016068 Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported. fibrochondrogenesis https://rarediseases.info.nih.gov/diseases/2321/fibrochondrogenesis MONDO:0016070 Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome. autosomal dominant gingival fibromatosis autosomal dominant gingival hyperplasia hereditary gingival fibromatosis hereditary gingival hyperplasia hereditary gingival fibromatosis MONDO:0016071 Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occuring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis. Molluscum fibrosum Murray-Puretic-Drescher syndrome Puretic syndrome mesenchymal dysplasia juvenile hyaline fibromatosis MONDO:0016072 An instance of anomaly of puberty or/and menstrual cycle that is caused by a modification of the individual's genome. genetic anomaly of puberty or/and menstrual cycle anomaly of puberty or/and menstrual cycle of genetic origin MONDO:0016073 A microphthalmia that is part of a larger syndrome. microphthalmia, syndromic syndrome associated with microphthalmia syndromic microphthalmia syndromic microphthalmia MONDO:0016075 A parasitic disease caused by tissue-invasive, vector-borne nematodes which can be found anywhere in the human body and that are transmitted to humans through the bite of an infected mosquito or fly or by consumption of unsafe drinking water and which, depending on the subtype can manifest with lymphedema, dermatitis, subcutaneous edema and eye involvement. The disorder is a major public health problem in many tropical and subtropical countries. Six subtypes have been described in the literature: lymphatic filariasis, onchocerciasis, loiasis, mansonelliasis, dirofilariasis and dracunculiasis caused by Wuchereria bancrofti and filarioidea of the genus Brugia; Onchocerca volvulus; Loa loa; Mansonella; Dirofilaria; and Dracunculus medinensis, respectively. Tropical eosinophilia is considered a frequent manifestation. disease due to superfamily Filarioidea filariasis MONDO:0016077 https://github.com/monarch-initiative/mondo/issues/4069 congenital aortopulmonary artery fistula congenital aortopulmonary septal defect aorta-pulmonary artery fistula aorto-pulmonary artery fistula aortopulmonary fistula congenital aortopulmonary window MONDO:0016078 congenital systemic arteriovenous fistula MONDO:0016079 Sporadic Creutzfeldt-Jakob disease (sCJD) is a subacute fatal neurodegenerative disease belonging to the group of prion diseases, characterized by a clinical triad of dementia, myoclonus, and EEG anomalies, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis. There are three types of CJD: sporadicCJD (sCJD), inherited CJD, and iatrogenic and variant CJD (vCJD). sporadic CJD sporadic Creutzfeldt-Jakob disease MONDO:0016080 Congenital respiratory-biliary fistula (RBF) is a rare developmental defect characterized by an anomalous connection of trachea or bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus. congenital bronchobiliary fistula https://rarediseases.info.nih.gov/diseases/1475/congenital-bronchobiliary-fistula MONDO:0016081 Coronary arterial fistulas are a connection between one or more of the coronary arteries and a cardiac chamber or great vessel. Coronaro-cardiac fistula coronary arterial malformations coronary arterial fistulas MONDO:0016083 FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leuchonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported. leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome familial occurrence of total leukonychia, trichilemmal cysts and ciliary dystrophy with dominant autosomal heredity FLOTCH syndrome https://rarediseases.info.nih.gov/diseases/2346/flotch-syndrome MONDO:0016085 An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia). bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome Cole Carpenter syndrome Cole-Carpenter syndrome MONDO:0016086 A rare bone disease characterized by avascular necrosis of the navicular bone in children. Patients present with sudden unexplained foot pain, inability to bear weight, and limping. Radiographic features include flattening, fragmentation, and patchy sclerosis of the navicular bone. Soft tissue swelling may be associated. The condition is most commonly unilateral and self-limiting. Boys are more often affected than girls. Kohler disease Kohler's disease Osteochondrosis of the tarsal bone aseptic necrosis of the tarsal bone juvenile osteochondrosis of foot osteochondritis of tarsal/metatarsal bone Kohler's Osteochondrosis of the tarsal navicular Kohler's disease of the tarsal navicular navicular Osteochondrosis osteochondritis of tarsal/metatarsal bone https://rarediseases.info.nih.gov/diseases/6842/kohler-disease MONDO:0016087 Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features. Copenhagen syndrome progressive non-infectious anterior vertebral fusion MONDO:0016088 Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency. HPRT deficiency HPRT1 deficiency hypoxanthine-guanine phosphoribosyltransferase 1 deficiency hypoxanthine-guanine phosphoribosyltransferase deficiency MONDO:0016089 Krabbe disease, classic form Krabbe disease, early-onset infantile Krabbe disease MONDO:0016090 Krabbe disease, late-onset late-infantile/juvenile Krabbe disease MONDO:0016091 A Krabbe disease that occurs in an adult. Krabbe disease of adults adult Krabbe disease MONDO:0016092 Serous or mucinous cystadenoma of childhood is a benign epithelial ovarian tumor characterized by a usually unilateral, cystic, unilocular or multilocular lesion with a thin wall or septa and no intracystic solid portion on imaging. It often presents with abdominal pain or an asymptomatic abdominal mass and can be associated with ovarian torsion or malignant transformation. mucinous cystadenoma of ovary in childhood serous cystadenoma of ovary in childhood serous or mucinous cystadenoma of childhood MONDO:0016093 A low grade epithelial tumor arising from the ovary. It is characterized by an atypical proliferation of epithelial cells. There is no evidence of stromal invasion. borderline epithelial neoplasm of ovary borderline epithelial neoplasm of the ovary borderline epithelial tumor of ovary borderline epithelial tumor of the ovary borderline ovarian epithelial neoplasm borderline ovarian epithelial tumor borderline ovarian surface epithelial-stromal tumor epithelial neoplasm of ovary of borderline malignancy epithelial neoplasm of the ovary of borderline malignancy epithelial ovarian neoplasm of borderline malignancy epithelial ovarian tumor of borderline malignancy epithelial tumor of ovary of borderline malignancy epithelial tumor of the ovary of borderline malignancy low malignant potential ovarian tumor ovarian borderline malignant tumor ovarian low malignant potential tumor ovarian tum. of low malig. poten. ovarian tumor of low malignant potential ovarian tumors of low malignant potential borderline epithelial tumor of ovary MONDO:0016094 A malignant germ cell tumor that involves the vagina. vagina malignant germ cell tumor vaginal germ cell cancer malignant germ cell tumor of the vagina vaginal germ cell malignant tumor MONDO:0016095 A malignant mesenchymal neoplasm with skeletal muscle differentiation arising from the vagina. rhabdomyosarcoma (disease) of vagina vagina rhabdomyosarcoma vagina rhabdomyosarcoma (disease) vaginal rhabdomyosarcoma vulvovaginal rhabdomyosarcoma vaginal rhabdomyosarcoma MONDO:0016096 A malignant germ cell tumor other than dysgerminoma that arises from the ovary. non-dysgerminomatous germ cell cancer of ovary ovarian Nondysgerminomatous germ cell tumor ovarian non-dysgerminomatous germ cell tumor malignant non-dysgerminomatous germ cell tumor of ovary MONDO:0016097 Symptomatic forms of Duchenne and Becker muscular dystrophies (DMD and BMD) in females carriers are characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation. symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers MONDO:0016098 Necrotizing autoimmune myopathy (NAM) is a rare form of idiopathic inflammatory myopathy characterized clinically by acute or subacute proximal muscle weakness, and histopathologically by myocyte necrosis and regeneration without significant inflammation. IMNM NAM anti-HMG-CoA myopathy anti-SRP myopathy autoimmune necrotizing myositis immune myopathy with myocyte necrosis necrotizing autoimmune myopathy immune-mediated necrotizing myopathy MONDO:0016099 Overlap myositis (OM) is a form of idiopathic inflammatory myopathy (IIM) characterized by myositis with at least one clinical and/or autoantibody overlap feature. adult-onset overlap myositis non-specific myositis overlap myositis MONDO:0016100 acquired rippling muscle disease Rmd-MG immune-mediated rippling muscle disease rippling muscle disease with myasthenia gravis MONDO:0016101 A transmissible viral disease of birds caused by avian herpesvirus 2 (herpesvirus 2, gallid) and other mardivirus. There is lymphoid cell infiltration or lymphomatous tumor formation in the peripheral nerves and gonads, but may also involve visceral organs, skin, muscle, and the eye. Marek disease Marek's disease fowl paralyses fowl paralysis neurolymphomatosis MONDO:0016102 A subacute progressive symmetric sensorial and/or motor disorder characterized by muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins. SIDP is an intermediate form between Guillain-Barre syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP). SIDP subacute inflammatory demyelinating polyradiculoneuropathy subacute inflammatory demyelinating polyneuropathy MONDO:0016103 Isolated hyperCKemia is a condition characterized by elevated levels of an enzyme called creatine kinase in the blood. In affected individuals, levels of this enzyme are typically 3 to 10 times higher than normal. While elevated creatine kinase often accompanies various muscle diseases, individuals with isolated hyperCKemia have no muscle weakness or other symptoms. Some people with this condition have abnormalities of muscle cells that can be seen with a microscope, such as unusual variability in the size of muscle fibers, but these changes do not affect the function of the muscle. hyperCKmia idiopathic asymptomatic hyperCKemia isolated asymptomatic hyperCKemia isolated hyperCKemia isolated asymptomatic elevation of creatine phosphokinase MONDO:0016105 An instance of skeletal muscle disease that is acquired during the lifetime of the individual. acquired skeletal muscle disease acquired skeletal muscle disease MONDO:0016106 progressive muscular dystrophy progressive muscular dystrophy MONDO:0016107 An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies. inherited myotonic dystrophy myotonia atrophica myotonia dystrophica myotonic disease myotonic dystrophy MONDO:0016108 Autosomal dominant form of distal myopathy. distal myopathy, autosomal dominant autosomal dominant distal myopathy MONDO:0016109 Autosomal recessive form of distal myopathy. distal myopathy, autosomal recessive autosomal recessive distal myopathy MONDO:0016112 cytoplasmic body myopathy inclusion myopathy https://rarediseases.info.nih.gov/diseases/1658/cytoplasmic-body-myopathy MONDO:0016113 SBMA bulbospinal muscular atrophy spinal and bulbal muscular atrophy spinal-bulbar muscular atrophy bulbospinal muscular atrophy MONDO:0016114 A bulbospinal muscular atrophy that occurs during childhood. bulbospinal muscular atrophy of childhood childhood bulbospinal muscular atrophy pediatric bulbospinal muscular atrophy bulbospinal muscular atrophy of childhood MONDO:0016115 A bulbospinal muscular atrophy that occurs in an adult. adult bulbospinal muscular atrophy bulbospinal muscular atrophy of adults bulbospinal muscular atrophy of adult bulbospinal muscular atrophy of adulthood MONDO:0016116 generalized bulbospinal muscular atrophy MONDO:0016117 lipid storage myopathy muscular lipidosis MONDO:0016118 glycogen storage myopathy muscular glycogenosis MONDO:0016120 myotonic syndrome MONDO:0016121 https://github.com/monarch-initiative/mondo/issues/4069 congenital myotonia MONDO:0016122 periodic paralysis (disease) periodic paralysis periodic paralysis (disease) Editor note: classified as genetic in ORDO but we treat as neutral here periodic paralysis MONDO:0016123 Editor note: TODO fix. This class is sourced from ORDO, which classifies it as acquired skeletal muscle disease, but not as a tumor. This is unusual, as there is nothing in its name to suggest it is inherently acquired. muscular tumor MONDO:0016125 infectious, fungal or parasitic myopathy MONDO:0016126 viral myositis MONDO:0016127 bacterial myositis MONDO:0016128 parasitic myositis MONDO:0016129 Eosinophilic gastroenteritis (EGE) is a rare benign gastrointestinal disease characterized by the presence of abnormal and nonspecific gastro-intestinal (GI) manifestations, associated with an eosinophilic infiltration of the GI tract, which can affect several segments and involve several layers within the GI wall. EGE eosinophilic enteritis eosinophilic gastroenteritis eosinophilic gastroenterocolitis eosinophilic gastroenteritis MONDO:0016130 fungal myositis MONDO:0016139 https://github.com/monarch-initiative/mondo/issues/5114 qualitative or quantitative protein defects in neuromuscular diseases MONDO:0016140 Deficiencies or mutations in the genes for the sarcoglycan complex subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency. https://github.com/monarch-initiative/mondo/issues/5114 qualitative or quantitative defects of sarcoglycan sarcoglycanopathy MONDO:0016141 https://github.com/monarch-initiative/mondo/issues/5114 alpha-sarcoglycanopathy qualitative or quantitative defects of alpha-sarcoglycan MONDO:0016142 https://github.com/monarch-initiative/mondo/issues/5114 beta-sarcoglycanopathy qualitative or quantitative defects of beta-sarcoglycan MONDO:0016143 https://github.com/monarch-initiative/mondo/issues/5114 gamma-sarcoglycanopathy qualitative or quantitative defects of gamma-sarcoglycan MONDO:0016144 https://github.com/monarch-initiative/mondo/issues/5114 delta-sarcoglycanopathy qualitative or quantitative defects of delta-sarcoglycan MONDO:0016145 https://github.com/monarch-initiative/mondo/issues/5114 dysferlinopathy qualitative or quantitative defects of dysferlin MONDO:0016146 A group of muscle diseases with basis in CAV3, which encodes caveolin-3, a muscle-specific membrane protein and the principal component of caveolae membrane in muscle cells in vivo. It is the only gene in which pathogenic variants are known to cause caveolinopathies. Sequence analysis identifies pathogenic variants in more than 99% of affected individuals qualitative or quantitative defects of caveolin-3 caveolinopathy MONDO:0016147 https://github.com/monarch-initiative/mondo/issues/5114 dystrophinopathy qualitative or quantitative defects of dystrophin MONDO:0016149 https://github.com/monarch-initiative/mondo/issues/5114 qualitative or quantitative defects of merosin MONDO:0016150 https://github.com/monarch-initiative/mondo/issues/5114 integrinopathy qualitative or quantitative defects of integrin alpha-7 MONDO:0016151 https://github.com/monarch-initiative/mondo/issues/5114 qualitative or quantitative defects of perlecan MONDO:0016152 https://github.com/monarch-initiative/mondo/issues/5114 qualitative or quantitative defects of calpain MONDO:0016153 https://github.com/monarch-initiative/mondo/issues/5114 qualitative or quantitative defects of TRIM32 MONDO:0016154 https://github.com/monarch-initiative/mondo/issues/5114 qualitative or quantitative defects of myotubularin MONDO:0016155 https://github.com/monarch-initiative/mondo/issues/5114 secondary alpha-dystroglycanopathy secondary dystroglycanopathy qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan MONDO:0016156 https://github.com/monarch-initiative/mondo/issues/5114 qualitative or quantitative defects of FKRP MONDO:0016157 https://github.com/monarch-initiative/mondo/issues/5114 qualitative or quantitative defects of fukutin MONDO:0016158 Narcolepsy with cataplexy is a sleep disorder characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions). GC)lineau disease Gélineau disease narcolepsy with cataplexy narcolepsy-cataplexy syndrome Gelineau syndrome Gelineau's syndrome narcoleptic syndrome paroxysmal sleep narcolepsy-cataplexy syndrome https://rarediseases.info.nih.gov/diseases/7162/narcolepsy MONDO:0016159 spinocerebellar ataxia-amyotrophy-deafness syndrome spinocerebellar ataxia associated amyotrophy of the hands and sensorineural deafness Gemignani syndrome https://rarediseases.info.nih.gov/diseases/2451/gemignani-syndrome MONDO:0016160 https://github.com/monarch-initiative/mondo/issues/5588 X-linked intellectual disability-epilepsy syndrome MONDO:0016161 Cerebral gigantism-jaw cysts syndrome is characterised by cerebral gigantism associated with a jaw cyst basal cell naevoid syndrome. Cramer-Niederdellmann syndrome Cramer Niederdellmann syndrome cerebral gigantism jaw cysts cerebral gigantism-jaw cysts syndrome https://rarediseases.info.nih.gov/diseases/1206/cerebral-gigantism-jaw-cysts MONDO:0016162 Bilateral frontal polymicrogyria is one of the rarest subtypes of polymicrogyria. It is a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Some researchers classify the condition into two different forms: bilateral frontal polymicrogyriaand the bilateral frontoparietal. Signs and symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability. Seizures mayalsobe present. The frontoparietal form is caused by changes (mutations) in the GPR56 gene but the cause for the frontal form of polymicrogyira is still not known. Treatment is based on the signs and symptoms present in each person. bilateral frontal polymicrogyria https://rarediseases.info.nih.gov/diseases/10783/bilateral-frontal-polymicrogyria MONDO:0016163 ADCA2 ADCAII autosomal dominant cerebellar ataxia type 2 autosomal dominant cerebellar ataxia type II autosomal dominant cerebellar ataxia type II MONDO:0016164 Herpetiform pemphigus is a rare superficial pemphigus disease characterized by severe intractable pruritus with erythematous or urticarial plaques and vesicles organized in a herpetiform pattern. Mucosae are generally spared. Eosinophilia in peripheral blood and low titers of circulating autoantibodies are observed in many cases. Histologically, minimal or no apparent acantholysis is associated. herpetiform pemphigus MONDO:0016165 Genetic hypoparathyroidism. https://github.com/monarch-initiative/mondo/issues/5114 2022-09-01 genetic hypoparathyroidism Reason: out of scope. MONDO:excludeGeneticFormOfDisease and MONDO:excludeGroupingClass. Term to consider: MONDO:0001220 hypoparathyroidism genetic hypoparathyroidism MONDO:0016166 Genetic hyperparathyroidism. https://github.com/monarch-initiative/mondo/issues/5114 2022-09-01 genetic hyperparathyroidism Reason: out of scope. MONDO:excludeGeneticFormOfDisease and MONDO:excludeGroupingClass. Term to consider: MONDO:0001741 hyperparathyroidism genetic hyperparathyroidism MONDO:0016167 Optic pathway glioma (OPG) is a benign tumor that develop along the optic nerve (chiasm, tracts, and radiations) characterized by impairment or loss of vision and may be accompanied by diencephalic symptoms such as reduced growth and alteration in sleeping patterns. OPG are often linked to neurofibromatosis type 1 (NF1). glioma of optic tract glioma of the optic tract glioma of the visual pathway glioma of visual pathway optic pathway glioma optic tract glioma visual pathway glioma optic pathway glioma https://rarediseases.info.nih.gov/diseases/4107/optic-pathway-glioma MONDO:0016168 Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS). caps Cryopyrinopathy cryopyrin-associated periodic syndrome MONDO:0016169 Chronic form of acquired peripheral neuropathy. CADP acquired peripheral neuropathy, chronic chronic acquired peripheral neuropathy chronic acquired demyelinating polyneuropathy MONDO:0016170 Chronic form of polyradiculoneuropathy. polyradiculoneuropathy, chronic chronic polyradiculoneuropathy MONDO:0016171 polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies MONDO:0016172 An instance of sensory ganglionopathy that is acquired during the lifetime of the individual. acquired sensory ganglionopathy acquired sensory neuronopathy acquired sensory ganglionopathy MONDO:0016173 non-paraneoplastic sensory neuronopathy non-paraneoplastic sensory ganglionopathy MONDO:0016174 paraneoplastic sensory neuronopathy paraneoplastic sensory ganglionopathy MONDO:0016175 Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity. cutis laxa elastolysis loose skin generalized elastolysis cutis laxa https://rarediseases.info.nih.gov/diseases/6227/cutis-laxa MONDO:0016176 axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy MONDO:0016179 acquired amyloid peripheral neuropathy MONDO:0016182 https://github.com/monarch-initiative/mondo/issues/5114 qualitative or quantitative defects of protein POMGNT1 qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase MONDO:0016183 https://github.com/monarch-initiative/mondo/issues/5114 qualitative or quantitative defects of protein glycosyltransferase-like MONDO:0016184 https://github.com/monarch-initiative/mondo/issues/5114 qualitative or quantitative defects of protein O-mannosyltransferase type 1 qualitative or quantitative defects of protein O-mannosyltransferase 1 MONDO:0016185 https://github.com/monarch-initiative/mondo/issues/5114 qualitative or quantitative defects of protein O-mannosyltransferase type 2 qualitative or quantitative defects of protein O-mannosyltransferase 2 MONDO:0016186 https://github.com/monarch-initiative/mondo/issues/5114 qualitative or quantitative defects of myofibrillar proteins MONDO:0016187 https://github.com/monarch-initiative/mondo/issues/5114 qualitative or quantitative defects of desmin MONDO:0016188 https://github.com/monarch-initiative/mondo/issues/5114 qualitative or quantitative defects of alphaB-cristallin MONDO:0016189 https://github.com/monarch-initiative/mondo/issues/5114 qualitative or quantitative defects of filamin type C qualitative or quantitative defects of filamin C MONDO:0016190 https://github.com/monarch-initiative/mondo/issues/5114 qualitative or quantitative defects of protein ZASP MONDO:0016191 https://github.com/monarch-initiative/mondo/issues/5114 qualitative or quantitative defects of titin MONDO:0016192 https://github.com/monarch-initiative/mondo/issues/5114 qualitative or quantitative defects of telethonin MONDO:0016193 https://github.com/monarch-initiative/mondo/issues/5114 qualitative or quantitative defects of alpha-actin MONDO:0016194 https://github.com/monarch-initiative/mondo/issues/5114 qualitative or quantitative defects of nebulin MONDO:0016195 https://github.com/monarch-initiative/mondo/issues/5114 qualitative or quantitative defects of beta-myosin heavy chain (MYH7) MONDO:0016196 https://github.com/monarch-initiative/mondo/issues/5114 qualitative or quantitative defects of emerin MONDO:0016197 https://github.com/monarch-initiative/mondo/issues/5114 qualitative or quantitative defects of selenoprotein N1 MONDO:0016198 https://github.com/monarch-initiative/mondo/issues/5114 qualitative or quantitative defects of plectin MONDO:0016199 https://github.com/monarch-initiative/mondo/issues/5114 qualitative or quantitative defects of protein SERCA1 MONDO:0016200 https://github.com/monarch-initiative/mondo/issues/5114 qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase type - qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase MONDO:0016201 https://github.com/monarch-initiative/mondo/issues/5114 qualitative or quantitative defects of myotilin MONDO:0016202 Autosomal dominant form of rhegmatogenous retinal detachment. rhegmatogenous retinal detachment, autosomal dominant autosomal dominant rhegmatogenous retinal detachment MONDO:0016203 hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency MONDO:0016204 Idiopathic copper-associated cirrhosis is a rare copper-overload liver disease characterized by a rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency and harboring a specific pathological aspect: pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining. non-Wilsonian hepatic copper toxicosis of infancy and childhood idiopathic copper-associated cirrhosis MONDO:0016205 idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome idiopathic retinal-aneurysms-neuroretinitis syndrome IRVAN syndrome MONDO:0016206 idiopathic uveal effusion syndrome MONDO:0016207 Intraocular inflammation occurring after extracapsular cataract extraction; probably an immune reaction to the patient's liberated lenticular proteins. Phacoallergic endophthalmitis Phacoantigenic endophthalmitis Phako-anaphylactic endophthalmitis endophthalmitis phacoanaphylactica lens-induced endophthalmitis lens-induced uveitis lens-induced iridocyclitis phacoanaphylactic uveitis MONDO:0016208 Solitary rectal ulcer syndrome (SRUS) is a rare rectal disease characterized by rectal bleeding, abdominal pain, passage of mucus, sensation of incomplete evacuation, straining at defecation and rectal prolapsed, secondary to ischemic changes in the rectum. solitary rectal ulcer syndrome MONDO:0016209 Benign nocturnal alternating hemiplegia of childhood is a rare neurologic disease characterized by recurrent attacks of nocturnal screaming or crying followed or accompanied by unilateral or sometimes bilateral hemiplegia. Disorder is not associated with neurological or developmental impairments but may be associated with mild behavioral abnormalities. benign familial nocturnal alternating hemiplegia in childhood benign nocturnal alternating hemiplegia of childhood benign familial nocturnal alternating hemiplegia of childhood MONDO:0016210 alternating hemiplegia MONDO:0016211 non-papillary urothelial carcinoma non-papillary transitional cell carcinoma of the bladder MONDO:0016213 Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome is a rare, syndromic nail anomaly disorder characterized by the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with londitudinal furrows on electronic microscopy. leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome MONDO:0016214 Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia, also named Btrimorphic syndromeB (i.e. three (inherited) morbidities, pulmonary, hepatic and cytopenia), is a rare disease reported in 4 cases to date, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition was associated with 100% mortality. pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome MONDO:0016215 A type of spastic cerebral palsy characterized by increased muscle tone of all four extremities. inherited congenital spastic quadriplegia quadriplegic infantile cerebral palsy spastic quadriplegia spastic quadriplegic cerebral palsy spastic tetraplegia cerebral palsy tetraplegic infantile cerebral palsy inherited congenital spastic tetraplegia spastic quadriplegic cerebral palsy MONDO:0016216 Adult hepatocellular carcinoma is the most common primary liver cancer of adulthood. Derived from well-differentiated hepatocytes, it often develops from chronic liver cirrhosis which is most often due to hepatitis B and C virus or alcohol abuse. Symptoms are hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure. hepatocellular cancer adult HCC adult hepatocellular carcinoma adult hepatoma adult primary carcinoma of liver cell adult primary carcinoma of the liver cell adult primary hepatocellular carcinoma adult primary hepatoma adult primary liver cell carcinoma hepatocellular carcinoma of adults adult hepatocellular carcinoma MONDO:0016217 Mal de debarquement (MdD) is a rare otorhinolaryngological disease characterized by a persistent sensation of motion such as rocking, swaying, tumbling and/or bobbing following a period of exposure to passive movement, usually an ocean cruise or other types of water, train, automobile or air travel and less commonly other movements (like sleeping on a waterbed). Onset may be spontaneous in some patients. Manifestations begin shortly after the stimulus, persist for 6 months to years and may be associated with anxiety, fatigue and impaired cognition. Symptoms are often accentuated when in an enclosed space or when attempting to be motionless (sitting, lying down or standing in a stationary position) and are relieved when in passive motion such as in a moving car, airplane or train. MDD MdDS disembarkment syndrome sickness of disembarkment Mal de debarquement syndrome Mal de débarquement mal de Debarquement MONDO:0016218 A spectrum of rare post-infectious neuropathies that usually occur in otherwise healthy patients. GBS is clinically heterogeneous and encompasses acute inflammatory demyelinating polyradiculoneuropathy (AIDP), acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN), Miller-Fisher syndrome (MFS) and some other regional variants. GBS Guillain Barre syndrome Guillain Barré syndrome Guillain-Barre-Strohl syndrome Guillain-Barré syndrome Guillain-Barré-Strohl syndrome acute postinfectious polyneuropathy post-infectious polyneuritis post-infective polyneuritis postinfectious polyneuritis Landry's ascending paralysis Landry-Guillain-Barre-Strohl syndrome acute autoimmune peripheral neuropathy acute immune-mediated polyneuropathy acute inflammatory demyelinating polyneuropathy acute inflammatory neuropathy Guillain-Barre syndrome MONDO:0016219 Dysmorphism-pectus carinatum-joint laxity syndrome is characterised by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown. Guízar Vázquez-Sánchez-Manzano syndrome dysmorphism-pectus carinatum-joint laxity syndrome Guizar Vasquez Sanchez Manzano syndrome dysmorphism-pectus carinatum-joint laxity syndrome https://rarediseases.info.nih.gov/diseases/352/guizar-vasquez-sanchez-manzano-syndrome MONDO:0016220 Congenital temporomandibular joint ankylosis is a rare maxillofacial disorder characterized by significant reduction in mouth opening (i.e. from a few millimeters to a few centimeters) in the absence of acquired factors (e.g. trauma, infection) contributing to the ankylosis. It is associated with variable degrees of facial dysmorphism (i.e. lateral deviation of the mandible and chin, lower facial asymmetry, retrognathia, micrognathia, dental malocclusion) and patients typically present with feeding and breathing difficulties. Developmental delay, hypotonia, seizures, and additional dysmorphic features (e.g. pectus excavatum, low-set ears, hypoplastic alae nasi) have also been reported. https://github.com/monarch-initiative/mondo/issues/4069 congenital trismus congenital temporomandibular joint ankylosis MONDO:0016221 temporomandibular joint anomaly MONDO:0016222 Spindle cell hemangioma (SCH), also known as spindle cell hemangioendothelioma, is a rare benign vascular tumor either solitary or multiple, characterized by cavernous blood vessels separated by spindle cells reminiscent of those in KaposiBs sarcoma and located in the dermis and subcutis. SCh spindle -cell hemangioma spindle cell hemangioendothelioma spindle cell hemangioma spindle cell hemangioma MONDO:0016223 Editor note: consider alternate naming infantile hemangioma of rare localization MONDO:0016224 Autosomal dominant form of proximal spinal muscular atrophy. proximal spinal muscular atrophy, autosomal dominant autosomal dominant proximal spinal muscular atrophy MONDO:0016225 Diagnosed when there are specific deficits in an individualbs ability to perceive or process information efficiently and accurately. This disorder first manifests during the years of formal schooling and is characterized by persistent and impairing difficulties with learning foundational academic skills in reading, writing, and/or math. The individualbs performance of the affected academic skills is well below average for age, or acceptable performance levels are achieved only with extraordinary effort. Specific learning disorder may occur in individuals identified as intellectually gifted and manifest only when the learning demands or assessment procedures (e.g., timed tests) pose barriers that cannot be overcome by their innate intelligence and compensatory strategies. For all individuals, specific learning disorder can produce lifelong impairments in activities dependent on the skills, including occupational performance. (from dsm-V) specific learning difficulty specific learning disorder specific learning disability MONDO:0016226 https://github.com/monarch-initiative/mondo/issues/5537 dysphasia specific language disorder specific language disorder MONDO:0016227 Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7), but most of the reported cases belong to EA1 and EA2. episodic ataxia Isaacs syndrome ea syndrome episodic ataxia syndrome hereditary episodic ataxia MONDO:0016229 An instance of vascular anomaly that is caused by a modification of the individual's genome. https://github.com/monarch-initiative/mondo/issues/5114 2022-09-01 genetic vascular anomaly Reason: out of scope. MONDO:excludeGeneticFormOfDisease and MONDO:excludeGroupingClass. Term to consider: MONDO:0019063 vascular anomaly genetic vascular anomaly MONDO:0016230 simple vascular malformation MONDO:0016231 congenital malformation of capillary rare capillary malformation capillary malformation MONDO:0016236 Kaposiform hemangioendothelioma is a very rare, aggressive, vascular tumor manifesting in the neonatal period or in infancy as cutaneous vascular tumors to large infiltrative lesions. Kaposiform hemangioendothelioma KH KHE Kaposiform hemangio-endothelioma congenital cutaneous multifocal kaposiform hemangioendothelioma kaposiform hemangioendothelioma https://rarediseases.info.nih.gov/diseases/3077/kaposiform-hemangioendothelioma MONDO:0016237 Diffuse neonatal hemangiomatosis is a rare vascular tumor from unknown origin characterized by multiple, progressive, rapidly growing cutaneous hemangiomas (e.g. in the scalp, face, trunk and extremities) associated with widespread visceral hemangiomas in the liver, lungs, gastrointestinal tract, brain, and meninges. diffuse neonatal hemangiomatosis https://rarediseases.info.nih.gov/diseases/1861/diffuse-neonatal-hemangiomatosis MONDO:0016238 Solitary fibrous tumor (SFT) represents a diverse group of ubiquitous rare spindle cell neoplasms that may be benign or malignant and that most frequently arises from the pleura and peritoneum and rarely from other sites such as head and neck, liver and skeletal muscle. SFT may be clinically asymptomatic or may present with enlarging mass, compressive effects depending on the site involved and rarely with paraneoplastic manifestations (osteoarthropathy or hypoglycemia). SFT localized fibrous mesothelioma localized fibrous tumor solitary fibrous tumor submesothelial fibroma hemangiopericytoma solitary fibrous tumor/hemangiopericytoma solitary fibrous tumor MONDO:0016239 Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular. Protein defect of cystin transport cystine storage disease cystinosis Cystinoses cystine diathesis cystine disease cystinosis https://rarediseases.info.nih.gov/diseases/6236/cystinosis MONDO:0016240 Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia. Hemimelia ranges in severity. longitudinal meromelia hemimelia MONDO:0016241 A rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment. https://github.com/monarch-initiative/mondo/issues/3680 AHC adrenal hypoplasia congenita alternating hemiplegia of childhood childhood alternating hemiplegia congenital adrenal Hypoplasia congenital adrenal gland hypoplasia pediatric alternating hemiplegia alternating hemiplegia alternating hemiplegia syndrome alternating hemiplegia of childhood MONDO:0016242 Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia). Hb-C disease Hb C disease hemoglobin C disease https://rarediseases.info.nih.gov/diseases/2640/hemoglobin-c-disease MONDO:0016243 Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation. Hb-E disease hemoglobin E disease hemoglobin E disease https://rarediseases.info.nih.gov/diseases/2641/hemoglobin-e-disease MONDO:0016244 Atypical hemolytic-uremic syndrome (aHUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction. D-HUS aHUS atypical HUS atypical hemolytic uremic syndrome hemolytic-uremic syndrome without diarrhea non-diarrhea-associated hemolytic uremic syndrome D-minus hemolytic uremic syndrome (D-HUS) HUS, atypical atypical hemolytic-uremic syndrome MONDO:0016248 An instance of ovarian cancer that is caused by an inherited modification of the individual's genome. https://github.com/monarch-initiative/mondo/issues/4889 familial ovarian cancer familial ovarian malignant tumor hereditary ovarian cancer familial ovarian cancer MONDO:0016249 Ovarian cancer caused by germline mutations in various genes, usually associated with additional cancer risks. The most common are breast and ovarian cancer syndrome (HBOC) due to mutations in BRCA1 and BRCA2 genes and hereditary nonpolyposis colorectal cancer (HNPCC) due to mutations in DNA mismatch-repair genes. Mutations in STK11 gene, causing Peutz-Jeghers syndrome, are also associated with a risk of ovarian cancer (typically sex cord stromal tumors). Mutations in other genes, including RAD51C, RAD51D, PALB2, confer an elevated ovarian cancer risk in a minority of patients. hereditary site-specific ovarian cancer syndrome MONDO:0016251 Salivary gland type cancer of the breast describes a group of uncommon neoplasms, usually seen in the salivary glands but occurring in the breast, with a variable clinicopathologic spectrum and divided into those with myoepithelial differentiation and those without. This group includes mammary adenoid cystic carcinoma, adenoid cystic carcinoma, mucoepidermoid carcinoma, acinic cell carcinoma, polymorphous low-grade adenocarcinoma and oncocytic carcinoma. https://github.com/monarch-initiative/mondo/issues/5166 2022-10-01 salivary gland type carcinoma of the breast Reason: duplicate. This OMIM ID seems to represent the whole series. This will be merged with MONDO:0003185 adenoid cystic breast carcinoma salivary gland type cancer of the breast https://rarediseases.info.nih.gov/diseases/12774/salivary-gland-type-cancer-of-the-breast MONDO:0016255 A primary, benign or malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. Representative examples include adenomyoma, adenosarcoma, and carcinosarcoma. body of uterus mixed neoplasm uterine corpus mixed epithelial and mesenchymal neoplasm uterine corpus mixed epithelial and mesenchymal tumor mixed epithelial and mesenchymal cancer of corpus uteri malignant mixed epithelial and mesenchymal tumor of corpus uteri Editor note: Consider placing Orphanet equiv with subclass (malignant form) uterine corpus mixed epithelial and mesenchymal neoplasm MONDO:0016256 Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism. https://github.com/monarch-initiative/mondo/issues/5588 Hennekam lymphangiectasia lymphedema syndrome Hennekam lymphangiectasia-lymphedema syndrome lymphedem-lymphangiectasia-intellectual disability syndrome lymphedema-lymphangiectasia-intellectual disability syndrome intestinal lymphagiectasia lymphedema intellectual deficit syndrome lymphangiectasies and lymphedema Hennekam type Hennekam syndrome MONDO:0016258 An uncommon malignant neoplasm arising from the uterine corpus. It is characterized by the presence of a malignant epithelial component and a benign mesenchymal (usually fibrous) component. uterine corpus Carcinofibroma Carcinofibroma of the corpus uteri uterine corpus carcinofibroma MONDO:0016259 An aggressive malignant mixed epithelial and mesenchymal tumor that arises from the uterine corpus. It usually affects elderly postmenopausal women and presents with vaginal bleeding. It is characterized by the presence of a malignant epithelial component that is usually glandular and a sarcomatous component. uterine carcinosarcoma body of uterus carcinosarcoma carcinosarcoma of corpus uteri carcinosarcoma of the corpus uteri carcinosarcoma of the uterine body carcinosarcoma of the uterine corpus carcinosarcoma of uterine body carcinosarcoma of uterine corpus carcinosarcoma of uterus corpus uteri malignant mixed mesodermal tumor malignant mixed Mullerian tumor of the corpus uteri malignant mixed Müllerian tumor of the corpus uteri malignant mixed mesodermal neoplasm of the uterine body malignant mixed mesodermal neoplasm of the uterine corpus malignant mixed mesodermal neoplasm of the uterus malignant mixed mesodermal neoplasm of uterine body malignant mixed mesodermal neoplasm of uterine corpus malignant mixed mesodermal neoplasm of uterus malignant mixed mesodermal tumor of the uterine body malignant mixed mesodermal tumor of the uterine corpus malignant mixed mesodermal tumor of the uterus malignant mixed mesodermal tumor of uterine body malignant mixed mesodermal tumor of uterine corpus malignant mixed mesodermal tumor of uterus mixed Mullerian cancer of corpus uteri mixed Mullerian sarcoma of the uterus mixed Mullerian sarcoma of uterus mixed Müllerian cancer of corpus uteri mixed Müllerian sarcoma of the uterus mixed Müllerian sarcoma of uterus uterine body carcinosarcoma uterine body malignant mixed mesodermal neoplasm uterine body malignant mixed mesodermal tumor uterine corpus carcinosarcoma uterine corpus malignant mixed Mullerian neoplasm uterine corpus malignant mixed Mullerian tumor uterine corpus malignant mixed Müllerian neoplasm uterine corpus malignant mixed Müllerian tumor uterine corpus malignant mixed mesodermal (Mullerian) tumor uterine corpus malignant mixed mesodermal (Müllerian) tumor uterine corpus malignant mixed mesodermal neoplasm uterine corpus malignant mixed mesodermal tumor uterine malignant mixed mesodermal neoplasm uterine malignant mixed mesodermal tumor uterine mixed Mullerian sarcoma uterine mixed Müllerian sarcoma carcinosarcoma of the uterus malignant mixed müllerian tumor of corpus uteri carcinosarcoma of the corpus uteri MONDO:0016260 A rare malignant heterologous neoplasm with skeletal muscle differentiation arising from the uterine corpus. It usually manifests with vaginal bleeding. The prognosis is poor. body of uterus rhabdomyosarcoma body of uterus rhabdomyosarcoma (disease) rhabdomyosarcoma (disease) of body of uterus uterine corpus rhabdomyosarcoma rhabdomyosarcoma of the corpus uteri uterine corpus rhabdomyosarcoma MONDO:0016262 An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells. body of uterus leiomyosarcoma corpus uteri leiomyosarcoma leiomyosarcoma - uterus leiomyosarcoma of body of uterus leiomyosarcoma of corpus uteri leiomyosarcoma of the body of uterus leiomyosarcoma of the corpus uteri leiomyosarcoma of the uterine body leiomyosarcoma of the uterine corpus leiomyosarcoma of the uterus leiomyosarcoma of uterine body leiomyosarcoma of uterine corpus leiomyosarcoma of uterus uterine body leiomyosarcoma uterine corpus leiomyosarcoma uterine leiomyosarcoma uterus leiomyosarcoma leiomyosarcoma of the corpus uteri MONDO:0016263 A primitive neuroectodermal tumor that involves the body of uterus. body of uterus primitive neuroectodermal tumor malignant peripheral neuroectodermal tumor of the corpus uteri peripheral neuroectodermal cancer of the corpus uteri primitive neuroectodermal tumor of body of uterus primitive neuroectodermal tumor of the corpus uteri MONDO:0016264 Hepatitis caused by autoantibodies. Drugs, infections, and toxins may trigger the production of the autoantibodies against the liver parenchyma. autoimmune liver disease autoimmune chronic active hepatitis autoimmune hepatitis autoimmune hepatitis with centrilobular necrosis chronic autoimmune hepatitis AIH autoimmune chronic hepatitis autoimmune hepatitis MONDO:0016266 A squamous cell carcinoma that involves the body of uterus. body of uterus squamous cell carcinoma endometrial squamous cell carcinoma squamous cell carcinoma of the corpus uteri MONDO:0016267 Undifferentiated carcinoma of the corpus uteri is a rare cancer of corpus uteri presenting as a large, polypoid, intraluminal mass with necrosis, composed of small to intermediate-size, relatively uniform, dyshesive cells displaying no differentiation. It usually presents with dysfunctional bleeding or vaginal discharge and, less often, abdominal pain. Association with Lynch syndrome was reported. body of uterus undifferentiated carcinoma endometrial undifferentiated carcinoma undifferentiated carcinoma of the corpus uteri MONDO:0016268 A papillary carcinoma that involves the body of uterus. body of uterus papillary carcinoma endometrial capillary carcinoma Editor note: check relationship to MONDO:0006196 papillary carcinoma of the corpus uteri MONDO:0016269 High-grade neuroendocrine carcinoma of the corpus uteri is an extremely rare, aggressive, primary uterine neoplasm, originating from neuroendocrine cells scattered within the endometrium, characterized, macroscopically, by a bulky, frequently polypoid, mass with abundant necrosis located in the uterus and, histologically, by rosette-like and cord-like structures consisting of small, rounded cells with oval nuclei and scarce cytoplasm. Patients often present with dysfunctional uterine bleeding, pelvic or abdominal mass and, especially in later stages of the disease, abdominal pain. Symptomatic metastatic spread or symptoms related to a paraneoplastic syndrome, such as retinopathy, or Cushing syndrome due to ectopic ACTH production, may be associated. high-grade neuroendocrine carcinoma of the uterine corpus poorly differentiated neuroendocrine carcinoma of the corpus uteri poorly differentiated neuroendocrine carcinoma of the endometrium high-grade neuroendocrine carcinoma of the corpus uteri MONDO:0016270 Low-grade neuroendocrine tumor of the corpus uteri is an extremely rare uterine cancer typically characterized by a well demarcated, solid, frequently pedunculated tumor originating from neuroendocrine cells scattered within the endometrium, often associated with ectopic hormone production. Patients usually present with vaginal bleeding or discharge and a pelvic mass with a polypoid tumor sometimes protruding through the cervical canal. Symptoms related to ectopic hormone production (flushing, sweating, diarrhea, bronchospasm) may also develop. low-grade neuroendocrine tumor of the uterine corpus well-differentiated neuroendocrine neoplasm of the endometrium well-differentiated neuroendocrine tumor of the corpus uteri well-differentiated neuroendocrine tumor of the endometrium low-grade neuroendocrine tumor of the corpus uteri MONDO:0016271 A adenoid cystic carcinoma that involves the body of uterus. body of uterus adenoid cystic carcinoma endometrial adenoid cystic carcinoma adenoid cystic carcinoma of the corpus uteri MONDO:0016272 A transitional cell carcinoma that involves the body of uterus. body of uterus transitional cell carcinoma endometrial transitional cell carcinoma transitional cell carcinoma of the corpus uteri MONDO:0016273 A malignant germ cell tumor that involves the body of uterus. body of uterus malignant germ cell tumor germ cell cancer of corpus uteri germ cell cancer of the corpus uteri malignant germ cell tumor of the corpus uteri malignant germ cell tumor of corpus uteri MONDO:0016276 High-grade neuroendocrine carcinoma of the cervix uteri is a rare, aggressive, primary cervical neoplasm, originating from neuroendocrine cells present in the lining epithelium of the cervix, characterized, macroscopically, by usually large lesions, sometimes with a barrel-shaped appearance. Patients often present with abnormal vaginal bleeding or discharge, pelvic/abdominal pain, post-coital spotting and/or dysuria, while symptoms related to carcinoid syndrome are not frequent. high-grade neuroendocrine carcinoma of the uterine cervix poorly differentiated neuroendocrine carcinoma of the cervix uteri poorly differentiated neuroendocrine cervical carcinoma high-grade neuroendocrine carcinoma of the cervix uteri MONDO:0016277 cervical malignant mixed epithelial and mesenchymal tumor mixed epithelial and mesenchymal cancer of cervix uteri malignant mixed epithelial and mesenchymal tumor of cervix uteri MONDO:0016280 A sarcoma involving a uterine cervix. cervical malignant mesenchymal tumor cervical sarcoma malignant mesenchymal tumor of cervix uteri sarcoma of uterine cervix uterine cervix sarcoma sarcoma of cervix uteri MONDO:0016281 46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype. 46,XX ovotesticular DSD ovotesticular DSD ovotesticular differences of sex development ovotesticular disorders of sex development true hermaphroditism 46,XX ovotesticular disorder of sex development MONDO:0016282 A rare malignant neoplasm with skeletal muscle differentiation arising from the cervix. cervical rhabdomyosarcoma rhabdomyosarcoma (disease) of uterine cervix uterine cervix rhabdomyosarcoma uterine cervix rhabdomyosarcoma (disease) CERMS rhabdomyosarcoma of the cervix uteri MONDO:0016283 Leiomyosarcoma of the cervix uteri is a rare, malignant mesenchymal tumor of smooth muscle origin, macroscopically appearing as a large, poorly circumscribed mass, often protruding from the cervical canal or expanding it circumferentially. The most common presenting symptoms are vaginal discharge or bleeding, pain in the lower abdomen and a bulky cervical mass. There is a reported tendency to metastatsize hematogenously, especially to the lungs, peritoneum, bones and the liver. cervical leiomyosarcoma leiomyosarcoma of uterine cervix uterine cervix leiomyosarcoma CELI leiomyosarcoma of the cervix uteri MONDO:0016284 Primitive neuroectodermal tumor of the cervix uteri is a rare cancer of cervix uteri derived from neural crest cells, histologically composed of small, round neoplatic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, soft, poorly circumscribed mass with infiltrative borders and necrotic areas. It presents with dysfuntional vaginal bleeding or discharge, lower abdominal pain and uterine enlargement. cervical malignant peripheral neuroectodermal tumor cervical peripheral neuroectodermal cancer malignant peripheral neuroectodermal tumor of the cervix uteri peripheral neuroectodermal cancer of cervix uteri primitive neuroectodermal tumor of the cervix uteri MONDO:0016285 A papillary carcinoma that involves the uterine cervix. cervical papillary carcinoma uterine cervix papillary carcinoma papillary carcinoma of the cervix uteri MONDO:0016287 A skin adenoid basal cell carcinoma that involves the uterine cervix. skin adenoid basal cell carcinoma of uterine cervix uterine cervix skin adenoid basal cell carcinoma cervical adenoid basal carcinoma adenoid basal carcinoma of the cervix uteri MONDO:0016289 A malignant germ cell tumor that involves the uterine cervix. cervical germ cell cancer cervical malignant germ cell tumor germ cell cancer of cervix uteri germ cell cancer of the cervix uteri uterine cervix malignant germ cell tumor malignant germ cell tumor of the cervix uteri malignant germ cell tumor of cervix uteri MONDO:0016290 A syndrome is characterized by major seizures, dysmorphic features (round face, bulbous nose, wide mouth, prominent philtrum), pes planus, psychomotor retardation and obesity. It has been described in five children (three boys and two girls, one of whom died in infancy) from two unrelated Mexican families. This condition is likely to be transmitted as an autosomal recessive trait. https://github.com/monarch-initiative/mondo/issues/3597 https://github.com/monarch-initiative/mondo/issues/5588 intellectual disability-epilepsy-bulbous nose syndrome Ehlers-Danlos syndrome with progeroid facies and mild intellectual disability Ehlers-Danlos syndrome with progeroid facies and mild mental retardation Hernández-Aguirre Negrete syndrome MONDO:0016291 Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (incl. syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987. Herrmann Opitz craniosynostosis craniosynostosis, Herrmann-Opitz type MONDO:0016292 https://github.com/monarch-initiative/mondo/issues/5588 genetic nodular heterotopia nodular heterotopia hereditary nodular heterotopia nodular neuronal heterotopia https://rarediseases.info.nih.gov/diseases/2661/hereditary-nodular-heterotopia MONDO:0016293 congenital essential nyctalopia night blindness, congenital stationary congenital stationary night blindness MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out. Hirschsprung disease with type d brachydactyly Hirschsprung disease type d brachydactyly Hirschsprung disease with type D brachydactyly familial Hirschsprung's disease and type D brachydactyly Hirschsprung disease-type D brachydactyly syndrome MONDO:0016295 A group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina. NCL ceroid lipofuscinoses hereditary ceroid lipofuscinosis neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis MONDO:0016296 Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity. https://github.com/monarch-initiative/mondo/issues/5588 HPE holoprosencephaly sequence holoprosencephaly https://rarediseases.info.nih.gov/diseases/6665/holoprosencephaly MONDO:0016297 A rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by bilateral, severe to profound hearing loss (mean sensorineural hearing impairment of 60 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs before the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. It is usually nonprogressive and impedes oral language acquisition. https://github.com/monarch-initiative/mondo/issues/551 isolated prelingual genetic deafness prelingual non-syndromic genetic deafness prelingual non-syndromic genetic hearing loss MONDO:0016298 Postlingual non-syndromic genetic deafness is a rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by progressive, bilateral, moderate to profound hearing loss (mean sensorineural hearing impairment equal to 40 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs after the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. Language development is not initially significantly delayed. https://github.com/monarch-initiative/mondo/issues/551 isolated postlingual genetic deafness postlingual non-syndromic genetic deafness postlingual non-syndromic genetic hearing loss MONDO:0016299 A central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia). holoprosencephaly-caudal dysgenesis syndrome MONDO:0016301 Congenitally corrected transposition (CCT) of the great vessels is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations. Double discordance L-transposition of the great arteries L-transposition of the great vessels congenitally corrected transposition of the great vessels discordant ventriculoarterial and atrioventricular connections levo-transposition of the great arteries levo-transposition of the great vessels ventricular inversion ventriculoarterial and atrioventricular discordance transposition of the great arteries, congenitally corrected transposition of the great vessels, congenitally corrected congenitally corrected transposition of the great arteries https://rarediseases.info.nih.gov/diseases/1544/congenitally-corrected-transposition-of-the-great-arteries MONDO:0016302 https://github.com/monarch-initiative/mondo/issues/4069 isolated congenitally uncorrected transposition of the great vessels isolated congenitally uncorrected transposition of the great arteries MONDO:0016303 https://github.com/monarch-initiative/mondo/issues/4069 TGA with cardiac malformation congenitally uncorrected transposition of the great vessels with cardiac malformation congenitally uncorrected transposition of the great arteries with cardiac malformation MONDO:0016304 NBIA1, classic form PKAN, classic form neurodegeneration with brain iron accumulation type 1, classic form classic pantothenate kinase-associated neurodegeneration MONDO:0016305 NBIA1, atypical form PKAN, atypical form neurodegeneration with brain iron accumulation type 1, atypical form atypical pantothenate kinase-associated neurodegeneration MONDO:0016306 Niemann-Pick disease type C, severe perinatal form MONDO:0016307 Niemann-Pick disease type C, severe early infantile neurologic onset MONDO:0016308 Niemann-Pick disease type C, late infantile neurologic onset MONDO:0016309 Niemann-Pick disease type C, classic form Niemann-Pick disease type C, juvenile neurologic onset MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset MONDO:0016311 genuine diffuse phlebectasia Bockenheimer syndrome MONDO:0016312 5-fluorouracil (5-FU) poisoning is a rare intoxication caused by the prolonged, low-dose administration of 5-FU, which is the mainstay of both adjuvant and advanced-disease chemotherapy regimens in colon cancer. 5-FU poisoning is characterized by gastrointestinal (nausea, emesis, diarrhea, anorexia, stomatitis) and hematologic (myelosuppression) toxicities as well as mucositis, alopecia and, occasionally, palmar-plantar dysesthesia (more commonly known as hand-foot syndrome). Women have been reported to experience more 5-FU-related toxicity than men. https://github.com/monarch-initiative/mondo/issues/5652 5-fluorouracil intoxication 5-fluorouracil poisoning MONDO:0016315 Mucopolysaccharidosis type 2 (MPS2), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade. Hunter syndrome type A MPS2A MPSIIA iduronate 2-sulfatase deficiency type A mucopolysaccharidosis type 2, severe form mucopolysaccharidosis type 2A mucopolysaccharidosis type II, severe form mucopolysaccharidosis type IIA mucopolysaccharidosis type 2, severe form MONDO:0016316 Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2, leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form by the absence of cognitive decline. Hunter syndrome type B MPS2B MPSIIB iduronate 2-sulfatase deficiency type B mucopolysaccharidosis type 2, attenuated form mucopolysaccharidosis type 2B mucopolysaccharidosis type II, attenuated form mucopolysaccharidosis type IIB mucopolysaccharidosis type 2, attenuated form MONDO:0016317 Limbic encephalitis with anti-N-methyl-D-aspartate (NMDA) receptor antibodies is a recently described type of encephalitis affecting young women with teratoma of ovary and associated with antibodies that react with neuronal cell surface auto-antigens. https://github.com/monarch-initiative/mondo/issues/5765 2023-04-01 limbic encephalitis with N-methyl-D-aspartate receptor antibodies Reason: duplicate. This will be merged with MONDO:0021081 anti-NMDA receptor encephalitis limbic encephalitis with NMDA receptor antibodies MONDO:0016318 Progressive multifocal leukoencephalopathy (PML) is a neurological disorder that damages the myelin that covers and protects nerves in the white matter of the brain. It is caused by the JC virus (JCV). By age 10, most people have been infected with this virus, but itrarelycauses symptoms unless the immune system becomes severely weakened.The disease occurs, rarely, in organ transplant patients; people undergoing chronic corticosteroid or immunosuppressive therapy; and individuals with cancer, such as Hodgkins disease, lymphoma, and sarcoidosis. PML is most common among individuals with acquired immune deficiency syndrome (AIDS). PML progressive multifocal leukoencephalitis leukoencephalopathy, progressive multifocal progressive multifocal leukoencephalopathy https://rarediseases.info.nih.gov/diseases/7468/progressive-multifocal-leukoencephalopathy MONDO:0016319 https://github.com/monarch-initiative/mondo/issues/4069 congenital absence of pain with hyperhidrosis congenital analgesia with hyperhidrosis congenital indifference to pain with hyperhidrosis congenital insensitivity to pain with hyperhidrosis MONDO:0016321 Pulmonary interstitial glycogenosis (PIG) is a rare non-lethal pediatric form of interstitial lung disease (ILD). infantile cellular interstitial pneumonitis pig pulmonary interstitial glycogenosis MONDO:0016322 Neuroendocrine cell hyperplasia of infancy (NCHI) is a non-lethal pediatric form of interstitial lung disease (ILD) characterized by tachypnea without respiratory failure. CTI NCHI NEHI chronic tachypnoe of infancy neuroendocrine cell hyperplasia of infancy MONDO:0016323 chronic respiratory distress with surfactant metabolism deficiency MONDO:0016330 An instance of hypertrophic cardiomyopathy that is acquired during the lifetime of the individual. acquired hypertrophic cardiomyopathy non-familial hypertrophic cardiomyopathy MONDO:0016331 Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands. infantile systemic hyalinosis MONDO:0016332 hypertrophic cardiomyopathy due to intensive athletic training MONDO:0016333 A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure. hereditary dilated cardiomyopathy DCM dilated cardiomyopathy, familial hypokinetic dilated cardiomyopathy, familial idiopathic dilated cardiomyopathy Editor note: unsure if GARD is familial form familial dilated cardiomyopathy MONDO:0016338 non-familial dilated cardiomyopathy MONDO:0016340 An instance of restrictive cardiomyopathy that is caused by an inherited modification of the individual's genome. hereditary restrictive cardiomyopathy familial restrictive cardiomyopathy MONDO:0016342 Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC, a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms. familial isolated ARVC familial isolated ARVD familial isolated arrhythmogenic right ventricular cardiomyopathy familial isolated arrhythmogenic right ventricular dysplasia familial isolated arrhythmogenic ventricular cardiomyopathy familial isolated arrhythmogenic ventricular dysplasia familial isolated arrhythmogenic right ventricular dysplasia MONDO:0016344 A rare congenital brain disorder in which the cerebral hemispheres are absent and replaced by sacs that contain cerebrospinal fluid. Signs and symptoms include irritability, increased muscle tone, seizures, and hydrocephalus. The prognosis is poor. hydranencephaly (disease) hydranencephaly hydranencephaly (disease) Hydroanencephaly hydranencephaly MONDO:0016345 non-familial restrictive cardiomyopathy MONDO:0016346 This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature. Sengers-Hamel-Otten syndrome congenital hydrocephalus oligophrenia dwarfism centripetal obesity and hypogonadism hydrocephalus obesity hypogonadism hydrocephalus-obesity-hypogonadism syndrome MONDO:0016348 non-genetic cardiac rhythm disease MONDO:0016349 Hydrocephalus that is present at birth. https://github.com/monarch-initiative/mondo/issues/4069 congenital hydrocephalus HYC3 congenital hydrocephalus MONDO:0016350 Hydrocephalus-blue sclera-nephropathy syndrome is a rare, genetic, renal or urinary tract malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978. https://github.com/monarch-initiative/mondo/issues/4328 Daentl-Townsend-Siegel syndrome familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrome hydrocephalus blue sclera nephropathy hydrocephalus-blue sclerae-nephropathy syndrome https://rarediseases.info.nih.gov/diseases/236/daentl-towsend-siegel-syndrome MONDO:0016351 Anti-HLA hyperimmunization is an increase in anti-HLA antigens mostly seen in chronic renal failure (CRF) patients that have undergone hemodialysis and polytransfusion. anti-HLA hyperimmunization https://rarediseases.info.nih.gov/diseases/730/anti-hla-hyperimmunization MONDO:0016352 idiopathic hypercalciuria Editor note: consider grouping class idiopathic inherited hypercalciuria MONDO:0016353 Powell-Venencie-Gordon syndrome palmoplantar hyperkeratosis-spastic paralysis syndrome keratoderma palmoplantar spastic paralysis palmoplantar keratoderma-spastic paralysis syndrome MONDO:0016354 Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome (CS). https://github.com/monarch-initiative/mondo/issues/5588 XP/CS complex xeroderma pigmentosum-Cockayne syndrome complex MONDO:0016355 Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly. semilobar holoprosencephaly MONDO:0016356 Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement). dSSc diffuse cutaneous systemic scleroderma progressive cutaneous systemic scleroderma progressive cutaneous systemic sclerosis DcSSc diffuse cutaneous systemic sclerosis https://rarediseases.info.nih.gov/diseases/9751/diffuse-cutaneous-systemic-sclerosis MONDO:0016357 https://github.com/monarch-initiative/mondo/issues/4948 Kozlowski-Tsuruta syndrome dysplastic cortical hyperostosis https://rarediseases.info.nih.gov/diseases/2022/dysplastic-cortical-hyperostosis MONDO:0016358 Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms. https://github.com/monarch-initiative/mondo/issues/4633 limited cutaneous systemic scleroderma limited scleroderma systemic sclerosis, limited limited cutaneous systemic sclerosis MONDO:0016359 Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc) characterized by organ involvement in the absence of fibrosis of the skin. SSC without skin involvement systemic sclerosis sine scleroderma systemic sclerosis without skin involvement Scleroderma, sine progressive systemic sclerosis sine scleroderma limited systemic sclerosis MONDO:0016360 Macrothrombocytopenia with mitral valve insufficiency is a rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency. marcothrombocytopenia with mitral valve insufficiency MONDO:0016361 isolated hereditary giant platelet disorder isolated hereditary macrothrombocytopenia isolated inherited giant platelet disorder isolated inherited macrothrombocytopenia isolated hereditary giant platelet disorder MONDO:0016362 Attenuated familial adenomatous polyposis (AFAP) is a mild form of familial adenomatous polyposis characterized by the presence of fewer than 100 adenomatous colonic polyps, a more proximal colonic location, a delayed age of colorectal cancer (CRC) onset and a more limited expression of the extracolonic features. AAPC AFAP HFAS attenuated FAP attenuated adenomatous polyposis coli attenuated familial adenomatous polyposis attenuated familial polyposis coli hereditary flat adenoma syndrome mild form of FAP attenuated familial adenomatous polyposis MONDO:0016364 Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with retinal dystrophy. JS-O Joubert syndrome with retinopathy JBTS3 Joubert syndrome 3 Joubert syndrome with ocular anomalies Joubert syndrome with ocular defect https://rarediseases.info.nih.gov/diseases/10168/joubert-syndrome-with-ocular-anomalies MONDO:0016365 An instance of primary hyperparathyroidism (disease) that is caused by an inherited modification of the individual's genome. hereditary primary hyperparathyroidism (disease) familial primary hyperparathyroidism MONDO:0016366 Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations. https://github.com/monarch-initiative/mondo/issues/4985 hyperphenylalaninemic embryopathy maternal PKU maternal hyperphenylalaninemia phenylketonuric embryopathy maternal phenylketonuria MONDO:0016367 Dermatomyositis (DM) is a type of idiopathic inflammatory myopathy characterized by evocative skin lesions and symmetrical proximal muscle weakness. DM dermatomyositis dermatopolymyositis polymyositis with skin involvement adult dermatomyositis Amyopathic dermatomyositis dermatomyositis MONDO:0016368 Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2, patients with RTS1 do not appear to have an increased risk of developing cancer. RTS1 poikiloderma of Rothmund-Thomson type 1 Poikiloderma Atrophicans and Cataract ROTHMUND-THOMSON SYNDROME, TYPE 1 Rothmund-Thomson syndrome type 1 MONDO:0016369 Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life. https://github.com/monarch-initiative/mondo/issues/4521 RTS2 Rothmund-Thomson syndrome, type 2 poikiloderma of Rothmund-Thomson type 2 Rothmund-Thomson syndrome type 2 MONDO:0016370 Marchiafava Bignami disease is defined by characteristic demyelination of the corpus callosum (erosion of the protective covering of nerve fibers joining the 2 hemispheres of the brain). The disease seems to most often affect severe and chronic alcoholics in their middle or late adult life. Early symptoms may include depression, paranoia, psychosis, or dementia. Seizures are common, and hemiparesis, aphasia, abnormal movements, and ataxia may sometimesprogress to coma and/or death. The cause of Marchiafava Bignami disease, including the potential role of nutritional deficiency, remains unknown. Improvement and recovery of some individuals has been reported. Treatment focuses on nutritional support and rehabilitation from alcoholism. Marchiafava Bignami disease metabolic bone disease metabolic bone disorder acute Marchiafava-Bignami disease chronic Marchiafava-Bignami syndrome MBD Marchiafava-Bignami disease https://rarediseases.info.nih.gov/diseases/6971/marchiafava-bignami-disease MONDO:0016371 combined hyperactive dysfunction syndrome of the cranial nerves MONDO:0016372 Glossopharyngeal neuralgia is a condition characterized by repeated episodes of severe pain in the tongue, throat, ear, and tonsils (areas connected to the ninth cranial nerve, or glossopharyngeal nerve). It typically occurs in individuals over age 40. Episodes of pain may last from a few seconds to a few minutes, and usually occur on one side. The pain may be triggered by swallowing, speaking, laughing, chewing or coughing. The condition is thought to be due to irritation of the nerve, although the source of irritation is unclear. The goal of treatment is to control pain, but over-the-counter pain medications are not very effective; the most effective drugs are anti-seizure medications. Some antidepressants help certain people. Surgery to cut or take pressure off of the glossopharyngeal nerve may be needed in severe cases. Glossovasopharyngeal neuralgia glossopharyngeal nerve neuralgia glossopharyngeal neuralgia neuralgia of glossopharyngeal nerve glossopharyngeal neuralgia https://rarediseases.info.nih.gov/diseases/6519/glossopharyngeal-neuralgia MONDO:0016373 Editor note: todo check MESH isolated facial myokymia MONDO:0016374 A neuralgia that involves the cranial neuron projection bundle. cranial neuron projection bundle neuralgia neuralgia of cranial neuron projection bundle facial neuralgia cranial neuralgia MONDO:0016375 acquired peripheral movement disorder MONDO:0016376 confetti-like macular atrophy MONDO:0016377 Pitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated. https://github.com/monarch-initiative/mondo/issues/5588 PTHSL Pitt-Hopkins-like syndrome https://rarediseases.info.nih.gov/diseases/11967/pitt-hopkins-like-syndrome MONDO:0016378 Maternal hyperthermia induced birth defects is a rare maternal disease-related embryofetopathy characterized by variable developmental anomalies of the fetus due to teratogenic effect of elevated maternal body temperature (resulting from febrile illness or hot environment exposure). Reported developmental anomalies include neural tube defects (spina bifida, ecephalocele, anencephaly), cardiac defects (transposition of great vessels), urogenital defects (hypospadias), abdominal wall defects, cleft lip/palate, eye defects (cataract, coloboma) or various minor anomalies (e.g., bifid uvula, preauricular pit or tag). Consensus regarding cause-effect relationship has not been reached. hyperthermia induced defects maternal hyperthermia induced birth defects https://rarediseases.info.nih.gov/diseases/2856/hyperthermia-induced-defects MONDO:0016379 Erosive pustular dermatosis of the scalp is a rare chronic inflammation of the scalp usually occurring in elderly women (>70 years old) and characterized by the development of painful pustules, shallow erosions, and crusting on atrophic skin that eventually result in cicatricial alopecia. erosive pustular dermatosis of the scalp https://rarediseases.info.nih.gov/diseases/2188/erosive-pustular-dermatosis-of-the-scalp MONDO:0016380 Acquired hypertrichosis lanuginosa is a rare cutaneous paraneoplastic disease characterized by the presence of excessive lanugo-type hair on the glabrous skin of face, neck, trunk and limbs that can be associated with additional clinical features such as burning glossitis, papillary hypertrophy of the tongue, diarrhea, dysgeusia, and/or weight loss. It is associated with lymphoma or cancer of the gastrointestinal system, urinary tract, lung, breast, uterus or ovary. hypertrichosis lanuginosa, acquired acquired hypertrichosis lanuginosa https://rarediseases.info.nih.gov/diseases/2864/hypertrichosis-lanuginosa-acquired MONDO:0016381 Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes. hypertrichosis lanuginosa congenita hypertrichosis universalis congenital hypertrichosis lanuginosa hypertrichosis lanuginosa universalis hypertrichosis lanuginosa congenita MONDO:0016382 hereditary poikiloderma MONDO:0016383 Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 litres in children. ADH resistant diabetes insipidus diabetes insipidus nephrogenic diabetes insipidus nephrogenic X-linked diabetes insipidus nephrogenic type 1 vasopressin-resistant diabetes insipidus nephrogenic diabetes insipidus MONDO:0016384 This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia. Salti-Salem syndrome hypogonadotropic hypogonadism-frontoparietal alopecia syndrome MONDO:0016385 This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature. Cantalamessa-Baldini-Ambrosi syndrome Cantalamessa Baldini Ambrosi syndrome primary gonadal failure, short stature, mitral valve prolapse, and intellectual disability primary gonadal failure, short stature, mitral valve prolapse, and mental retardation hypogonadism-mitral valve prolapse-intellectual disability syndrome MONDO:0016386 This syndrome is characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa. It has been described in two sisters born to nonconsanguineous parents. Chang-Davidson-Carlson syndrome hypogonadotropic hypogonadism-retinitis pigmentosa syndrome MONDO:0016387 OXPHOS disease OXPHOS system deficiency mitochondrial oxidative phosphorylation disorder MONDO:0016390 A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects. FIH familial isolated hypoparathyroidism hypoparathyroidism familial isolated hypoparathyroidism, familial hypoparathyroidism, familial isolated familial hypoparathyroidism MONDO:0016391 Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life. NDM congenital diabetes mellitus diabetes mellitus syndrome in newborn infant neonatal diabetes mellitus MONDO:0016392 Cerebellar hypoplasia-tapetoretinal degeneration syndrome is a rare syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus. cerebellar hypoplasia tapetoretinal degeneration cerebellar hypoplasia-tapetoretinal degeneration syndrome https://rarediseases.info.nih.gov/diseases/1196/cerebellar-hypoplasia-tapetoretinal-degeneration MONDO:0016393 This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Bosma arhinia-microphthalmia syndrome Bosma-Henkin-Christiansen syndrome hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome MONDO:0016394 Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. ABSN acute bilateral striatal necrosis sporadic IBSN sporadic infantile striatonigral degeneration sporadic infantile striatonigral necrosis sporadic infantile bilateral striatal necrosis MONDO:0016395 O'Donnell-Pappas syndrome foveal hypoplasia-presenile cataract syndrome MONDO:0016396 Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death. MRT32 Norman disease PCH1 mental retardation, autosomal recessive 32 pontocerebellar hypoplasia type 1 MONDO:0016407 Oligomeganephronia is a developmental anomaly of the kidneys, and the most severe form of renal hypoplasia, characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules. Oligomeganephronic renal hypoplasia oligomeganephronia MONDO:0016408 Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH), a thyroid hormone deficiency present from birth. https://github.com/monarch-initiative/mondo/issues/4069 permanent congenital hypothyroidism MONDO:0016409 Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth. https://github.com/monarch-initiative/mondo/issues/4069 primary congenital hypothyroidism MONDO:0016410 Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system. https://github.com/monarch-initiative/mondo/issues/4069 TSH deficiency central hypothyroidism hypothalamic-pituitary hypothyroidism secondary hypothyroidism thyroid stimulating hormone deficiency thyrotropin deficiency central congenital hypothyroidism https://rarediseases.info.nih.gov/diseases/12280/central-congenital-hypothyroidism MONDO:0016411 Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary. hypothyroidism due to deficient transcription factors involved in pituitary development or function MONDO:0016412 Peripheral hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism. peripheral hypothyroidism MONDO:0016413 https://github.com/monarch-initiative/mondo/issues/4069 congenital hypothyroidism due to maternal intake of antithyroid drugs MONDO:0016414 A syndrome characterised by hypotrichosis, syndactyly, intellectual deficit and early eruption of teeth. It has been described in two patients. The mode of transmission appears to be autosomal recessive. https://github.com/monarch-initiative/mondo/issues/5588 Lopes-Marques de Faria syndrome hypotrichosis-intellectual disability, Lopes type MONDO:0016416 Diphallus diphallia https://rarediseases.info.nih.gov/diseases/1872/diphallia MONDO:0016417 https://github.com/monarch-initiative/mondo/issues/4069 congenital ichthyosis-microcephalus-quadriplegia syndrome congenital ichthyosis-microcephalus-tetraplegia syndrome MONDO:0016418 Multiple system atrophy, cerebellar type (MSA-c) is a form of multiple system atrophy (MSA) with predominant cerebellar features (gait and limb ataxia, oculomotor dysfunction, and dysarthria). MSA, cerebellar type MSA-c sporadic OPCA type 1 sporadic olivopontocerebellar atrophy type 1 multiple system atrophy, cerebellar type MONDO:0016419 Breast carcinoma that has developed in relatives of patients with history of breast carcinoma. https://github.com/monarch-initiative/mondo/issues/4521 breast cancer susceptibility, autosomal dominant, somatic mutation breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation breast cancer, invasive ductal, autosomal dominant, somatic mutation breast cancer, lobular, somatic breast cancer, male, susceptibility to, autosomal dominant, somatic mutation breast cancer, protection against, autosomal dominant, somatic mutation breast cancer, somatic breast cancer, susceptibility to, autosomal dominant, somatic mutation familial breast cancer familial breast carcinoma familial cancer of breast familial cancer of the breast hereditary breast cancer hereditary breast carcinoma breast cancer, familial breast cancer, familial Male Editor note: check w clingen before merge https://github.com/monarch-initiative/mondo/issues/84 hereditary breast carcinoma MONDO:0016420 hereditary flecked retinopathy familial flecked retinopathy MONDO:0016421 Toxic oil syndrome is a rare intoxication, due to consumption of a rapeseed oil denatured with aniline 2%, characterized by generalized vascular lesions affecting all organs and vessels (including veins and arteries) and presenting with severe incapacitating myalgias, marked peripheral eosinophilia and pulmonary infiltrates. toxic oil syndrome MONDO:0016422 A rare, endocrine disease characterized by autoimmune thyroid disease associated with at least one other autoimmune disease, such as type I diabetes mellitus, chronic atrophic gastritis, pernicious anemia, vitiligo, alopecia, or myasthenia gravis, but excluding Addison disease. APS type 3 APS3 autoimmune polyendocrine syndrome type 3 autoimmune polyglandular syndrome type 3 PAS3 polyglandular autoimmune syndrome type 3 autoimmune polyendocrinopathy type 3 MONDO:0016423 APS type 4 APS4 autoimmune polyendocrine syndrome type 4 autoimmune polyglandular syndrome type 4 autoimmune polyendocrinopathy type 4 MONDO:0016424 Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy. progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome Editor note: Orphanet xrefs OMIM:606346 which is DFNA22, check this progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome MONDO:0016425 Hughes-Stovin syndrome (HSS) is a life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of BehC'et's disease (BD). It is characterized by the association of multiple pulmonary artery aneurysms (PAAs) and peripheral venous thrombosis. Hughes-Stovin syndrome MONDO:0016426 Fusariosis describes a superficial, locally invasive, disseminated infection with the pathogenic fungus species, Fusarium, often found in soil and water, which is mainly transmitted to humans through traumatic inoculation and that manifests with keratitis, onychomycosis and less frequently peritonitis and cellulitis. In the immunocompromised, disseminated fusariosis is more common and it manifests with refractory fever, skin lesions (ecthyma-like, target, and multiple subcutaneous nodules), severe myalgias and sino-pulmonary infections. Fusarium caused disease or disorder Fusarium disease or disorder Fusarium infection Fusarium infectious disease fusariosis MONDO:0016428 multiple sclerosis variant MONDO:0016429 Marburg acute multiple sclerosis is a rare variant of multiple sclerosis characterized by a rapidly progressive, aggressive form of multiple sclerosis with numerous large multifocal demyelinating lesions in deep white matter on cerebral MRI that usually leads to severe disability or death within weeks to months without remission. A relapsing form of multiple sclerosis is observed in surviving patients. acute multiple sclerosis, Marburg type acute multiple sclerosis, Marburg variant Marburg acute multiple sclerosis MONDO:0016430 Tumefactive multiple sclerosis is characterized by a tumor-like lesion larger than two centimeters and signs and symptoms similar to those of a brain tumor. It is a rare form of multiple sclerosis (MS). Symptoms of tumefactive MS often differ from other MS cases and may include, headaches, changes in thinking, confusion, speech problems, seizures, and weakness. The cause of tumefactive MS is not known. It often develops into the relapsing-remitting form of MS. In other cases there is only one occurrence of the condition. In still others the disease process remains less clear. While there is no cure for tumefactive MS, treatments such as corticosteroids are available to decrease disease activity. Balo concentric sclerosis Balo's concentric sclerosis concentric demyelination Balo disease Balo's disease Baló concentric sclerosis Marburg variant Tumefactive multiple sclerosis diffuse cerebral sclerosis of Schilder encephalitis periaxialis concentrica Balo concentric sclerosis https://rarediseases.info.nih.gov/diseases/5885/tumefactive-multiple-sclerosis MONDO:0016431 Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia. CMT2M autosomal dominant Charcot-Marie-Tooth disease type 2M MONDO:0016432 Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies. atriodigital dysplasia heart-hand syndrome MONDO:0016433 Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait. https://github.com/monarch-initiative/mondo/issues/5588 Dysmorphism-short stature-deafness-pseudohermaphroditism syndrome dysmorphism-short stature-deafness-disorder of sex development syndrome MONDO:0016434 An instance of dermis elastic tissue disorder that is acquired during the lifetime of the individual. acquired dermis elastic tissue disorder acquired dermis elastic tissue disorder MONDO:0016437 Late-onset focal dermal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by a pseudoxanthoma elasticum-like papular eruption consisting of multiple, slowly progressive, asymptomatic, 2-5 mm, white to yellowish, non-follicular papules (that tend to form cobblestone plaques) predominantly distributed over the neck, axillae and flexural areas, with no systemic involvement. Skin biopsy reveals a focal increase of normal-appearing elastic tissue in the reticular dermis with no calcium deposits. PXE-like late-onset focal dermal elastosis pseudoxanthoma-like late-onset focal dermal elastosis late-onset focal dermal elastosis MONDO:0016438 Linear focal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by asymptomatic, palpable, hypertrophic or atrophic, yellowish or red, indurated, horizontal, striae-like linear plaques distributed symmetrically across the mid and lower back. No systemic involvement has been described. Skin biopsy reveals a focal increase in abnormal elastic tissue with abundant, wavy, fragmented and aggregated, basophilic elastic fibers in the reticular dermis. Elastotic striae linear focal elastosis linear focal dermal elastosis MONDO:0016439 Elastoderma is a rare condition that affects the skin. People affected by elastoderma generally have increased laxity of skin covering a specific area of the body. Decreased recoil of the skin has also been reported. Although any part of the body can be affected, the skin of the neck and extremities (arms and legs, especially at the elbows and/or knees) are most commonly involved. The exact underlying cause is currently unknown; however, it generally occurs sporadically in people with no family history of the condition. There is no standard therapy available for elastoderma. Some cases have been treated with surgical excision (removal of affected skin), but hyperlaxity of skin often returns following the surgery. elastoderma https://rarediseases.info.nih.gov/diseases/12716/elastoderma MONDO:0016440 A benign, slow-growing tumor arising from the soft tissues usually in the mid-thoracic region of the elderly. It is characterized by the presence of paucicellular collagenous tissue, adipocytes and a predominance of large coarse elastic fibers arranged in globules. Elastofibroma elastofibroma dorsi MONDO:0016441 A nonheritable form of pseudoxanthoma elasticum (PXE), lacking the retinal and vascular stigmata associated with the inherited form of the disorder, but having skin lesions that are clinically, histologically, and ultrastructurally similar to those seen in the inherited type. acquired Gronblad-Strandberg-Touraine syndrome acquired PXE acquired pseudoxanthoma elasticum acquired pseudoxanthoma elasticum (inherited or acquired) localized acquired cutaneous pseudoxanthoma elasticum acquired pseudoxanthoma elasticum MONDO:0016442 Nevus elasticus Weidman juvenile elastoma juvenile elastoma without osteopoikilosis elastoma MONDO:0016443 An acquired form of collagenoma that appears in childhood. It is characterized by discrete, firm, skin-colored, and slightly elevated cutaneous papules, nodules or plaques that may be generalized, or found on the trunk and the extremities. Nevus anelasticus disseminated nevus anelasticus eruptive collagenoma papular elastorrhexis MONDO:0016444 Primary anetoderma is a rare skin disease characterized by loss of elastin tissue resulting in localized areas of flaccid skin in the absence of a secondary cause. primary macular atrophy primary anetoderma MONDO:0016445 Familial anetoderma is an extremely rare genetic skin disease characterized by loss of elastin tissue leading to localized areas of flaccid skin and a family history of the disorder. hereditary anetoderma hereditary macular atrophy familial anetoderma MONDO:0016446 An instance of cutis laxa that is acquired during the lifetime of the individual. acquired cutis laxa cutis laxa acquisita acquired cutis laxa MONDO:0016447 White fibrous papulosis of the neck (WFPN) is a rare, acquired, dermal elastic tissue disorder characterized by multiple, 2-3 mm sized, non-confluent, asymptomatic, white or pale-colored, non-follicular, firm papular lesions occurring predominantly on the lateral or posterior aspects of the neck. Other, rarely reported sites include inferior axillae, central mid-back and upper sternal region. white fibrous papulosis of the neck MONDO:0016448 Pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-PDE) is a rare, acquired, idiopathic dermal tissue disorder characterized by numerous, asymptomatic, 2-3 mm, yellowish, non-follicular papules that tend to converge into cobblestone-like plaques which are distributed symmetrically over the posterior neck, supraclavicular region, axillae, and sometimes abdomen. Unlike PXE, these skin lesions show select elimination (absence or marked loss) of elastic fibers in the papillary dermis and there is no systemic involvement. PXE-PDE PXE-like papillary dermal elastolysis pseudoxanthoma elasticum-like papillary dermal elastolysis MONDO:0016449 mid-dermal elastolysis MONDO:0016450 Cold autoimmune hemolytic anemia comprises two types of autoimmune hemolytic anemia (AIHA) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30B0C): cold agglutinin disease (CAD), which is the more common, and paroxysmal cold hemoglobinuria (PCH). cAHA cAIHA cold AIHA autoimmune hemolytic anemia, cold type MONDO:0016451 Idiopathic hypersomnia with long sleep time is a sleep disorder characterized by good quality night rest of 10 hours or more, excessive daytime drowsiness that is more or less continual with long episodes of non-restorative sleep, and difficult waking with sleep drunkenness or sleep inertia. idiopathic hypersomnia with long sleep time MONDO:0016452 Idiopathic hypersomnia without long sleep time is a sleep disorder characterized almost entirely by constant excessive daytime drowsiness lasting more than 3 months, with involuntary more or less restorative daytime naps. Night rest is of normal length or slightly prolonged but is less than 10 hours in duration, with often normal awakening. idiopathic hypersomnia without long sleep time MONDO:0016453 Foodborne botulism is the most common form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis due to botulinum neurotoxins (BoNTs). It is caused by consumption of contaminated food containing BoNTs. intoxication botulism foodborne botulism MONDO:0016454 A rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities. AR-CMT2B5 Charcot-Marie-Tooth disease type 2B5 SEOAN due to NEFL deficiency autosomal recessive Charcot-Marie-Tooth disease type 2B5 severe early-onset axonal neuropathy due to NEFL deficiency severe early-onset axonal neuropathy due to light neurofilament subunit deficiency Charcot-Marie-Tooth disease type 2B5 MONDO:0016455 Virus-associated trichodysplasia spinulosa is a rare infectious skin disease characterized by the development of follicular papules with keratin spicules in various parts of the body, predominantly in the face (e.g. nose, eyebrows, auricles), that is due to polyomavirus infection in immunocompromized patients. Cyclosporine-induced folliculodystrophy TS VATS pilomatrix dysplasia trichodysplasia spinulosa virus-associated trichodysplasia spinulosa MONDO:0016456 The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. https://github.com/monarch-initiative/mondo/issues/3664 Del(5)(q14.3) monosomy 5q14.3 5q14.3 deletion syndrome autosomal dominant intellectual disability 20 chromosome 5q14.3 deletion syndrome Editor note: ORDO xrefs mental retardation, autosomal dominant 20, check this 5q14.3 microdeletion syndrome MONDO:0016457 Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism. ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome MONDO:0016458 The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly. https://github.com/monarch-initiative/mondo/issues/3492 dup(8)(q12) trisomy 8q12 chromosome 8q12 microduplication syndrome 8q12 microduplication syndrome https://rarediseases.info.nih.gov/diseases/12816/8q12-microduplication-syndrome MONDO:0016459 The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. https://github.com/monarch-initiative/mondo/issues/3664 Del(2)(q23.1) monosomy 2q23.1 pseudo-Angelman syndrome chromosome 2q23.1 microdeletion syndrome Editor note: TODO check ORDO xref to OMIM 2q23.1 microdeletion syndrome https://rarediseases.info.nih.gov/diseases/10998/2q231-microdeletion-syndrome MONDO:0016460 Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit. PHD syndrome polyvalvular heart disease syndrome MONDO:0016461 The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation. https://github.com/monarch-initiative/mondo/issues/3492 dup(5)(q35) trisomy 5q35 5q35 microduplication syndrome MONDO:0016462 Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy. isolated hypogammaglobulinemia nonsyndromic agammaglobulinemia isolated agammaglobulinemia MONDO:0016463 A agammaglobulinemia that is part of a larger syndrome. hypogammaglobulinemia syndrome associated with agammaglobulinemia syndromic agammaglobulinemia syndromic hypogammaglobulinemia The NCIT class hypogammaglobulinemia is implicitly syndromic so we place here. syndromic agammaglobulinemia MONDO:0016464 Type B insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome, and type A insulin resistance syndrome) and occurs in the context of immune dysfunction. https://github.com/monarch-initiative/mondo/issues/5723 insulin-resistance type B insulin-resistance syndrome type B https://rarediseases.info.nih.gov/diseases/3009/insulin-resistance-type-b MONDO:0016466 A lung disorder caused by inhalation of asbestos fibers. It results in fibrosis of the lung parenchyma. Signs and symptoms include coughing, shortness of breath and chest pain. asbestos dust pneumoconiosis asbestos intoxination asbestos pneumoconiosis asbestosis pneumoconiosis from asbestos dust asbestos intoxication idiopathic interstitial pneumonitis - from asbestos exposure pulmonary fibrosis - from asbestos exposure asbestosis MONDO:0016467 Isotretinoin embryopathy is an association of malformations caused by the teratogenic effect of isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk of spontaneous abortions and severe birth defects including serious craniofacial (microcephaly, asymmetric crying facies, microphthalmia, developmental abnormalities of the external ear, ocular hypertelorism), cardio vascular (conotruncal heart defects, aortic arch abnormalities), and central nervous system (hydrocephalus, microcephaly, lissencephaly, Dandy-Walker malformation, cognitive deficit) anomalies and thymic aplasia. Isoretinoin is contraindicated during pregnancy. Isotretinoin embryopathy Retinoids embryopathy fetal isotretinoin syndrome fetal retinoid syndrome retinoic acid embryopathy Accutane fetal effects of Accutane-exposed pregnancies Acutane embryopathy Isotretinoin (RoAccutane) embryopathy Isotretinoin fetal effects of Isotretinoin teratogen syndrome isotretinoin syndrome MONDO:0016468 Aform of botulism (see this term), a rare acquired neuromuscular junction disease, characterized by descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), produced in vivo leading to toxin-mediated infection. Infectious botulism includes wound botulism and intestinal toxemia botulism (infant botulism and adult intestinal botulism). toxin-mediated infective botulism toxin-mediated infectious botulism MONDO:0016469 Ehlers-Danlos, vascular-like type is an adult-onset form of Ehlers-Danlos syndrome characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries. EDS, vascular-like type Ehlers-Danlos syndrome, vascular-like type MONDO:0016470 Ehlers-Danlos/osteogenesis imperfecta syndrome is an association of the features of Ehlers-Danlos syndrome and osteogenesis imperfecta, characterized by generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, and easy bruising as the predominant clinical features, while being invariably associated with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures. EDS/OI syndrome Ehlers-Danlos/osteogenesis imperfecta syndrome MONDO:0016471 Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa. Jackson-Lawler type pachyonychia congenita Jadassohn-Lewandowsky syndrome PC pachyonychia congenita, Jadassohn-Lewandowsky type pachyonychia congenita type 1 congenital pachyonychia pachyonychia congenita syndrome pachyonychia congenita https://rarediseases.info.nih.gov/diseases/10753/pachyonychia-congenita MONDO:0016472 Dracunculiasis (Guinea worm disease) is a neglected tropical disease (NTD) characterized by a painful burning skin lesion from which the Dracunculus medinensis parasite emerges approximately 1 year after infection resulting from consumption of unsafe drinking water containing parasite-infected copepods (Cyclops spp., microcrustacea also called water fleas). Dracunculosis Dracunculus medinensis caused disease or disorder Dracunculus medinensis disease or disorder Dracunculus medinensis infectious disease Guinea worm disease Medina worm disease dracontiasis infection by Dracunculus medinensis medinensis GWD Guinea worm infection parasitic infection caused by Dracunculus medinensis dracunculiasis https://rarediseases.info.nih.gov/diseases/6286/dracunculiasis MONDO:0016473 A neoplastic syndrome most often caused by mutations in the hSNF5/INI1 tumor suppressor gene. It is characterized by the development of an atypical teratoid/rhabdoid tumor in infancy and early childhood. This highly aggressive tumor develops in the central nervous system as an isolated lesion or in combination with extrarenal or renal rhabdoid tumor. Patients may also develop other central nervous system malignancies including medulloblastoma, supratentorial primitive neuroectodermal tumor, and choroid plexus carcinoma. RTPS familial posterior fossa brain tumor syndrome of infancy familial rhabdoid tumor hereditary rhabdoid tumor rhabdoid predisposition syndrome rhabdoid tumor predisposition syndrome familial rhabdoid tumor MONDO:0016474 An autoimmune disorder, similar to systemic lupus erythematosus, that is caused by certain drugs. DIL DILE drug induced lupus drug induced lupus erythematosus drug-induced lupus drug-induced lupus erythematosus MONDO:0016475 Beckwith-Wiedemann syndrome due to imprinting defect of type 11p15 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 MONDO:0016476 Beckwith-Wiedemann syndrome due to CDKN1C mutation MONDO:0016477 https://github.com/monarch-initiative/mondo/issues/3664 Beckwith-Wiedemann syndrome due to 11p15 microdeletion MONDO:0016478 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion MONDO:0016479 https://github.com/monarch-initiative/mondo/issues/3492 Silver-Russell syndrome due to 7p11.2-p13 microduplication Silver-Russell syndrome due to dup(7)(p11.2p13) Silver-Russell syndrome due to trisomy 7p11.2-p13 Silver-Russell syndrome due to trisomy 7p11.2p13 silver-Russell syndrome due to 7p11.2p13 microduplication MONDO:0016480 Silver-Russell syndrome due to an imprinting defect of type 11p15 silver-Russell syndrome due to an imprinting defect of 11p15 MONDO:0016481 https://github.com/monarch-initiative/mondo/issues/3492 silver-Russell syndrome due to 11p15 microduplication MONDO:0016482 Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 11 UPD(11)mat silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 MONDO:0016483 An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm. aneurysm, intracranial berry familial aneurysmal subarachnoid hemorrhage familial berry aneurysm familial intracranial saccular aneurysm saccular cerebral aneurysm familial cerebral saccular aneurysm intracranial berry aneurysm MONDO:0016484 A syndrome characterized by congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies, no abnormalities in the vestibular system, and retinitis pigmentosa. USH2 Usher syndrome type 2 Usher syndrome type 2 MONDO:0016485 A syndrome characterized by postlingual progressive hearing loss, abnormalities in the vestibular system, and onset of retinitis pigmentosa symptoms usually by the second decade of life. USH3 Usher syndrome type 3 Usher syndrome type 3 MONDO:0016486 Beta-thalassemia (BT) major is a severe early-onset form of BT characterized by severe anemia requiring regular red blood cell transfusions. Beta thalassemia Major Cooley anemia Cooley's Anemia Mediterranean anemia beta-thalassemia major MONDO:0016487 Beta-thalassemia (BT) intermedia is a form of BT characterized by mild to moderate anemia which does not or only occasionally requires transfusion. beta-thalassemia intermedia MONDO:0016489 Delta-beta-thalassemia is a form of beta-thalassemia characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis. delta-beta-thalassemia MONDO:0016490 Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia resulting in moderate hemolytic anemia. C-beta-thalassemia HBC-beta-thalassemia syndrome hemoglobin C-beta-thalassemia syndrome MONDO:0016491 Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia. E-beta-thalassemia HbE-beta-thalassemia syndrome hemoglobin E-beta-thalassemia syndrome MONDO:0016493 variant of GBS variant of Guillain-Barré syndrome variant of Guillain-Barre syndrome MONDO:0016494 regional variant of GBS regional variant of Guillain-Barré syndrome regional variant of Guillain-Barre syndrome MONDO:0016495 functional variant of GBS functional variant of Guillain-Barré syndrome functional variant of Guillain-Barre syndrome MONDO:0016496 PCB variant of GBS PCB variant of Guillain-BarrC) syndrome PCB variant of Guillain-Barré syndrome pharyngeal-cervical-brachial weakness pharyngo-cervico-brachial variant of GBS pharyngo-cervico-brachial variant of Guillain-BarrC) syndrome pharyngo-cervico-brachial variant of Guillain-Barré syndrome pharyngeal-cervical-brachial variant of Guillain-Barré syndrome pharyngeal-cervical-brachial variant of Guillain-Barre syndrome MONDO:0016497 Paraparetic variant of Guillain-Barré syndrome is a rare variant of Guillain-Barré syndrome characterized by isolated leg weakness, areflexia and radicular leg pain that may simulate a cauda equina or spinal cord syndrome. The arms, ocular, facial, and oropharyngeal muscles are spared, and sphincteric function is normal. paraparetic variant of GBS paraparetic variant of Guillain-Barré syndrome paraparetic variant of Guillain-Barre syndrome MONDO:0016498 acute pure sensory GBS acute pure sensory Guillain-BarrC) syndrome acute pure sensory Guillain-Barré syndrome acute pure sensory neuropathy MONDO:0016499 Acute pandysautonomia is a rare variant of Guillain-Barré syndrome characterized by acute post-ganglionic sympathetic and parasympathetic failure presenting several weeks after acute infection with gastrointestinal symptoms (abdominal pain, vomiting, constipation, diarrhea, gastroparesis, ileus), orthostatic hypotension, erectile dysfunction, urinary frequency, urgency or retention, vasomotor instability with acrocyanosis and reduced salivation, lacrimation and sweating. acute panautonomic GBS acute panautonomic Guillain-BarrC) syndrome acute panautonomic Guillain-Barré syndrome acute panautonomic neuropathy acute pandysautonomia MONDO:0016500 Acute sensory ataxic neuropathy is a rare variant of Guillain-Barré syndrome characterized by acute onset monophasic sensory neuropathy with diminished or absent tendon reflexes, loss of proprioception, positive Romberg sign and nerve conduction features of demyelination. It presents several weeks after acute infection with paresthesias, ataxia and neuropathic pain. ASAN acute sensory ataxic GBS acute sensory ataxic Guillain-BarrC) syndrome acute sensory ataxic Guillain-Barré syndrome acute sensory ataxic neuropathy MONDO:0016501 Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis. HPS with pulmonary fibrosis Hermansky-Pudlak syndrome with pulmonary fibrosis MONDO:0016502 Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis. HPS without pulmonary fibrosis Hermansky-Pudlak syndrome without pulmonary fibrosis MONDO:0016503 https://github.com/monarch-initiative/mondo/issues/4069 CEVD congenital erosive and vesicular dermatosis with reticulated supple scarring congenital erosive and vesicular dermatosis MONDO:0016504 Primary unilateral adrenal hyperplasia (PUAH) is a surgically-correctable form of primary (hyper) aldosteronism (PA) characterized by renin suppression, unilateral aldosterone hypersecretion, and moderate to severe hypertension secondary to hyperplasia of the adrenal gland. PUAH primary unilateral adrenal hyperplasia MONDO:0016505 An adenoma of the adrenal cortex that produces aldosterone. It may be associated with Conn syndrome. Clinical presentation includes hypertension, hypokalemia, and muscle weakness. APAC Pure APAC Pure aldosterone-producing adrenocortical carcinoma Pure aldosterone-secreting adrenocortical carcinoma aldosterone producing adrenal cortex adenoma aldosterone producing adrenal cortical adenoma aldosterone-producing adrenal cortex adenoma adrenocortical carcinoma with pure aldosterone hypersecretion aldosterone-producing adrenal cortex adenoma MONDO:0016506 Ectopic aldosterone-producing tumor is an extremely rare aldosterone-producing neoplasm composed of aberrant adrenocortical tissue located outside the adrenal glands (e.g. in retroperitoneum, perirenal or periaortic fatty tissue, thorax, spinal canal, testes, ovaries) typically characterized by symptoms related to increased aldosterone levels (such as sustained, treatment-resistant hypertension and hypokalemia) or symptoms caused by local tumor enlargement. Extra-adrenal aldosterone-producing tumor ectopic aldosterone-producing tumor MONDO:0016509 MPPC syndrome microcornea posterior megalolenticonus persistent fetal vasculature coloboma microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome MONDO:0016510 Epibulbar lipodermoid B preauricular appendages B polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids. epibulbar lipodermoid-preauricular appendage-polythelia syndrome MONDO:0016511 infectious embryofetopathy MONDO:0016512 Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency. https://github.com/monarch-initiative/mondo/issues/5588 KMS Kabuki make up syndrome Kabuki make-up syndrome Niikawa-Kuroki syndrome NKS Kabuki syndrome MONDO:0016513 This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS).* https://github.com/monarch-initiative/mondo/issues/5114 2022-09-01 Reason: out of scope. MONDO:excludeGroupingClass. Term to consider:MONDO:0011399 alpha thalassemia alpha-thalassemia-related diseases MONDO:0016514 Gamborg-Nielsen syndrome Kallin syndrome epidermolysis bullosa simplex with anodontia/hypodontia MONDO:0016515 Kallmann syndrome with cardiopathy is characterised by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome. Kallmann syndrome-heart disease syndrome MONDO:0016516 A genetic condition characterized by long bone sclerosis and thickening, short stature, and head and eye anomalies. Many affected individuals have hypoparathyroidism with hypocalcemia. Kenny syndrome Kenny-Caffey syndrome MONDO:0016518 A punctate palmoplantar keratoderma that is not part of a larger syndrome. isolated punctate PPK isolated punctate palmoplantar hyperkeratosis nonsyndromic punctate palmoplantar keratoderma isolated punctate palmoplantar keratoderma MONDO:0016520 Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae. Klippel-Feil malformation Klippel-Feil sequence congenital cervical vertebral fusion congenital fused cervical segments nonsyndromic Klippel-Feil syndrome isolated Klippel-Feil syndrome MONDO:0016521 Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism. Kocher-Debre-Semelaigne syndrome Kocher-Debré-Semelaigne syndrome Hoffman syndrome muscular pseudohypertrophy-hypothyroidism syndrome MONDO:0016522 A syndrome characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. sacral meningocele-conotruncal heart defects syndrome sacral meningocele conotruncal heart defects sacral meningocele, conotruncal heart defects, and minor anomalies of head and neck Kousseff syndrome MONDO:0016523 Bronchogenic cysts (BCs) are congenital malformations resulting from abnormal budding of the foregut and are most commonly found in the mediastinum. bronchogenic cyst (disease) bronchogenic cyst bronchogenic cyst (disease) bronchogenic cyst MONDO:0016524 An alteration in limb growth caused by congenital vascular malformations in childhood. https://github.com/monarch-initiative/mondo/issues/114 congenital vascular bone syndrome MONDO:0016525 Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol. FH genetic hyperaldosteronism hereditary hyperaldosteronism familial hyperaldosteronism MONDO:0016526 Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations. https://github.com/monarch-initiative/mondo/issues/3492 https://github.com/monarch-initiative/mondo/issues/4278 9p duplication 9p trisomy Duplication 9p Duplication of the short arm of chromosome 9 chromosome 9p duplication partial duplication of chromosome 9p partial duplication of the short arm of chromosome 9 partial trisomy 9p partial trisomy of chromosome 9p partial trisomy of the short arm of chromosome 9 partial trisomy of the short arm of chromosome type 9 trisomy of the short arm of chromosome 9 trisomy type 9p trisomy 9p MONDO:0016527 GSD due to lactate dehydrogenase deficiency LDH deficiency glycogenosis due to lactate dehydrogenase deficiency lactate dehydrogenase deficiency glycogen storage disease due to lactate dehydrogenase deficiency MONDO:0016528 Limb body wall complex (LBWC) is characterized by severe multiple congenital anomalies in the fetus with exencephaly/encephalocele, thoraco- and/or abdominoschisis (anterior body wall defects) and limb defects, with or without facial clefts. LBWC syndrome Cyllosomas aplasia of the cord body stalk anomaly limb-body wall complex short umbilical cord syndrome umbilical cord, short limb body wall complex https://rarediseases.info.nih.gov/diseases/3251/limb-body-wall-complex MONDO:0016529 Duplication of the urethra is a rare congenital genitourinary anomaly, encompassing a wide spectrum of anatomic variants in which the urethra is partially or totally duplicated, which may be asymptomatic or cause symptoms such as incontinence, recurrent urinary infections and difficulty urinating. urethral duplication duplication of urethra https://rarediseases.info.nih.gov/diseases/1975/duplication-of-urethra MONDO:0016530 A rare congenital malformation in the larynx. It is characterized by the presence of an air-filled sac within the laryngeal wall which may bulge on the neck. laryngocele https://rarediseases.info.nih.gov/diseases/3191/laryngocele MONDO:0016531 digestive duplication MONDO:0016532 Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies. https://github.com/monarch-initiative/mondo/issues/5350 LGS Lennox syndrome encephalopathy of childhood epileptic encephalopathy Lennox-Gastaut type macrocephaly and epileptic encephalopathy Lennox-Gastaut syndrome https://rarediseases.info.nih.gov/diseases/9912/lennox-gastaut-syndrome MONDO:0016533 AApoAII amyloidosis familial amyloid nephropathy due to apolipoprotein A-II variant familial renal amyloidosis due to apolipoprotein A-II variant hereditary amyloid nephropathy due to apolipoprotein A-II variant hereditary renal amyloidosis due to apolipoprotein A-II variant apolipoprotein A-II amyloidosis MONDO:0016534 infundibulo-neurohypophysitis MONDO:0016535 A genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency). https://github.com/monarch-initiative/mondo/issues/4104 HED anhidrotic ectodermal dysplasia anhidrotic ectodermal dysplasia 1 anhidrotic ectodermal dysplasia 3 ectodermal dysplasia 1, Anhydrotic hypohidrotic X-linked ectodermal dysplasia CST syndrome EDA ectodermal dysplasia anhidrotic ectodermal dysplasia, hypohidrotic DOID classifies this as a subtype of Clouston disease but this seems to be a confusion re hidrotic vs hypohidrotic hypohidrotic ectodermal dysplasia MONDO:0016536 A rare combined T and B cell immunodeficiency with a predisposition to lymphoproliferative syndrome. It is characterized by persistent symptomatic EBV-viremia and hypogammaglobulinemia variably presenting with fever, lymphadenopathy and systemic inflammatory conditions including hepatitis, pneumonia and sepsis. It may be associated with lymphoma, hemophagocytic lymphohistiocytosis, and aplastic anemia. CD27 deficiency autosomal recessive lymphoproliferative disease MONDO:0016537 A disorder characterized by proliferation of lymphocytes at various stages of differentiation. Lymphoproliferative disorders can be neoplastic (clonal, as in lymphomas and leukemias) or reactive (polyclonal, as in infectious mononucleosis). lymphoproliferative disorder lymphoproliferative syndrome MONDO:0016539 A form of hypotonia-cystinuria syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation, and minor facial dysmorphism). atypical HCS atypical hypotonia-cystinuria syndrome MONDO:0016540 https://github.com/monarch-initiative/mondo/issues/4069 congenital secondary erythrocytosis congenital secondary polycythemia MONDO:0016541 An instance of secondary polycythemia that is acquired during the lifetime of the individual. acquired secondary erythrocytosis acquired secondary polycythemia acquired secondary polycythemia MONDO:0016542 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome is a rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma. IL10-related early-onset IBD IL10-related early-onset inflammatory bowel disease autosomal recessive early-onset IBD autosomal recessive early-onset inflammatory bowel disease immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome MONDO:0016543 Hyperphenylalaninemia (HPA) due to tetrahydrobiopterin (BH4) deficiency, also known as malignant HPA is an amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA) and that later on is clinically differentiated by neurologic symptoms such as microcephaly, intellectual disability, central hypotonia, delayed motor development, peripheral spasticity and seizures, that develop and persist despite an established metabolic control of plasma phenylalanine. hyperphenylalaninemia hyperphenylalaninemia due to BH4 deficiency hyperphenylalaninemia due to tetrahydrobiopterin deficiency non-phenylketonuric hyperphenylalaninemia hyperphenylalaninemia due to tetrahydrobiopterin deficiency MONDO:0016544 Sclerosing mesenteritis (SM) is a rare pathological disease causing inflammation of the adipose tissue of the small bowel mesentery and is commonly associated with abdominal pain, diarrhea, nausea, weight loss, bloating and loss of appetite. The two subforms include mesenteric panniculitis (where inflammation and fatty necrosis are dominant features) and retractile mesenteritis (where fibrosis and retraction dominate). isolated mesenteric lipodystrophy lipomatous mesenteritis liposclerotic mesenteritis mesenteric lipogranuloma mesenteric panniculitis sclerosing mesenteritis IgG4-related mesenteritis MONDO:0016545 Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration. leukoencephalopathy palmoplantar keratoderma leukoencephalopathy-palmoplantar keratoderma syndrome https://rarediseases.info.nih.gov/diseases/3232/leukoencephalopathy-palmoplantar-keratoderma MONDO:0016546 Primary orthostatic tremor (POT), or ``shaky legs syndrome'', is a rare movement disorder characterized by fast, task-specific tremor, affecting the legs and trunk while standing. pot OT orthostatic tremor, primary shaky leg syndrome primary orthostatic tremor https://rarediseases.info.nih.gov/diseases/8563/primary-orthostatic-tremor MONDO:0016547 Beckwith-Wiedemann syndrome due to NSD1 mutation MONDO:0016548 Megacystic-megaureter syndrome is an urinary tract malformation characterized by the presence of a massive primary non-obstructive vesicoureteral reflux and a large capacity, smooth, thin walled bladder due to the continual recycling of refluxed urine. Recurrent urinary infections are commonly associated with this condition. megaureter-megacystis syndrome megacystis-megaureter syndrome MONDO:0016549 primary megaureter, adult-onset form MONDO:0016550 https://github.com/monarch-initiative/mondo/issues/4069 congenital primary megaureter, obstructed form MONDO:0016551 https://github.com/monarch-initiative/mondo/issues/4069 congenital primary megaureter, refluxing form MONDO:0016552 congenital primary megaureter, nonrefluxing and unobstructed form MONDO:0016553 A congenital hypogonadotropic hypogonadism that is not part of a larger syndrome. nonsyndromic congenital hypogonadotropic hypogonadism isolated congenital hypogonadotropic hypogonadism MONDO:0016554 A rare endocrine disease characterized by the appearance of transient hypothyroidism, usually in preterm newborns, following long or short-term topical iodine exposure. Parenteral exposure from iodinated contrast agents may similarly alter thyroid funtion in term neonates. iodine antenatal exposure neonatal iodine exposure MONDO:0016555 transient congenital hypothyroidism due to maternal factor MONDO:0016556 https://github.com/monarch-initiative/mondo/issues/4069 transient congenital hypothyroidism due to neonatal factor MONDO:0016557 Leukonychia totalis is a rare nail anomaly disorder characterized by complete white discoloration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present. hereditary white nails total leukonychia leukonychia totalis MONDO:0016558 Congenital mirror movement disorder is a condition in which intentional movements of one side of the body are mirrored by involuntary movements of the other side. For example, when an affected individual makes a fist with the right hand, the left hand makes a similar movement. The mirror movements in this disorder primarily involve the upper limbs, especially the hands and fingers. This pattern of movements is present from infancy or early childhood and usually persists throughout life, without other associated signs and symptoms. Intelligence and lifespan are not affected. https://github.com/monarch-initiative/mondo/issues/4069 familial congenital controlateral synkinesia familial congenital mirror movements hereditary congenital controlateral synkinesia hereditary congenital mirror movements isolated congenital controlateral synkinesia isolated congenital mirror movements CMM bimanual synkinesis congenital mirror movement disorder congenital mirror movements familial congenital mirror movements MONDO:0016559 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate. megalocornea-spherophakia-secondary glaucoma syndrome glaucoma secondary to spherophakia/ectopia lentis and megalocornea MONDO:0016560 https://github.com/monarch-initiative/mondo/issues/5588 ptosis-syndactyly-learning difficulties syndrome MONDO:0016561 1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia. https://github.com/monarch-initiative/mondo/issues/3664 Del(1)(q44) monosomy 1q44 chromosome 1q44 microdeletion syndrome 1q44 microdeletion syndrome https://rarediseases.info.nih.gov/diseases/10943/1q44-microdeletion-syndrome MONDO:0016562 PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease. PSP-PAGF PSP-pure akinesia with gait freezing progressive supranuclear palsy-pure akinesia with gait freezing syndrome MONDO:0016563 PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease. PSP-CBS PSP-corticobasal syndrome progressive supranuclear palsy-corticobasal syndrome MONDO:0016564 PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP. PSP-AOS PSP-PNFA progressive supranuclear palsy-apraxia of speech syndrome progressive supranuclear palsy-progressive non-fluent aphasia syndrome MONDO:0016565 syndrome associated with obesity (disease) syndromic obesity (disease) syndromic genetic obesity MONDO:0016566 Loiasis is a form of filariasis (see this term), caused by the parasitic worm Loa loa, endemic to the forest and savannah regions of Central and Western Africa. Loiasis may either be asymptomatic or manifest as a large, transient area of localized, non-erythematous subcutaneous edema (Calabar swellings), adult worm migration through the sub-conjunctiva (''African eye worm'') and pruritus. Generalized itching, hives, muscle pains, arthralgias, fatigue, and adult worms visibly migrating under the surface of the skin may be observed. Severe complications such as encephalopathy have been reported in highly infected individuals receiving ivermectin during mass drug administration programs for the control of onchocerciasis and lymphatic filariasis. African eye worm Loa loa filariasis loiasis https://rarediseases.info.nih.gov/diseases/3283/loiasis MONDO:0016567 Locked-in syndrome (LIS) is a neurological condition characterized by the presence of sustained eye opening, quadriplegia or quadriparesis, anarthria, preserved cognitive functioning and a primary code of communication that uses vertical eye movements or blinking. Cerebromedullospinal disconnection locked in syndrome locked-in state locked-in syndrome https://rarediseases.info.nih.gov/diseases/6919/locked-in-syndrome MONDO:0016568 Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983. deafness-nephritis-ano-rectal malformation syndrome Lowe Kohn Cohen syndrome deafness - nephritis - ano-rectal malformation deafness nephritis anorectal malformation dominant ano-rectal malformation, nephritis and nerve-deafness Editor note: check GARD assignment Lowe-Kohn-Cohen syndrome https://rarediseases.info.nih.gov/diseases/1695/deafness-nephritis-anorectal-malformation MONDO:0016570 Primary pulmonary lymphoma (PPL) is a rare lymphoma of the lung, defined as a clonal lymphoid proliferation affecting one or both lungs (parenchyma and/or bronchi) in a patient with no detectable extrapulmonary involvement at diagnosis or during the subsequent 3 months. PPL comprises low grade/indolent B cell PPL forms, the most frequent form represented by the marginal B-cell lymphoma of mucosa associated lymphoid tissue (MALT lymphoma) and other non-MALT low grade lymphomas; and more rarely high-grade B-cell PPL (including diffuse large B cell lymphoma) and lymphomatoid granulomatosis (LYG). Editor note: TODO check relationship to MONDO:0006387 primary pulmonary diffuse large B-cell lymphoma primary pulmonary lymphoma MONDO:0016571 Macrocephaly-short stature-paraplegia syndrome is characterized by macrocephaly and midface hypoplasia, intellectual deficit, short stature, spastic paraplegia and severe central nervous system anomalies (hydrocephalus and Dandy-Walker malformation). It has been described in two unrelated adults. Volcke-Soekarman syndrome macrocephaly-short stature-paraplegia syndrome MONDO:0016572 Central bilateral macrogyria is a neuronal migration disorder characterised by pseudobulbar palsy, developmental delay, mild mental retardation and epilepsy. It has been described in at least four children. central bilateral macrogyria MONDO:0016573 Acute fatty liver of pregnancy is a rare but severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy. AFLP acute fatty liver, gestational acute fatty liver of pregnancy https://rarediseases.info.nih.gov/diseases/9578/acute-fatty-liver-of-pregnancy MONDO:0016574 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a neurocutaneous syndrome characterised by congenital hypomelanotic and hypermelanotic cutaneous macules. It has been described in individuals spanning three generations of an Indian family. Some of the patients also had retarded growth and intellectual deficit. Westerhof-Beemer-Cormane syndrome Westerhof Beemer Cormane syndrome congenital hypomelanotic and hypermelanotic macules hereditary congenital hypopigmented and hyperpigmented macules macules hereditary congenital hypopigmented and hyperpigmented macules, hereditary congenital hypopigmented and hyperpigmented hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome https://rarediseases.info.nih.gov/diseases/3347/macules-hereditary-congenital-hypopigmented-and-hyperpigmented MONDO:0016575 A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy). Kartagener syndrome Kartagener's syndrome PCD ciliary motility disorder immotile ciliary syndrome Dextrocardia bronchiectasis and sinusitis Dextrocardia-bronchiectasis-sinusitis syndrome ICS Immotile cilia syndrome, Kartagener type Primary ciliary dyskinesia and situs inversus Primary ciliary dyskinesia, Kartagener type Siewert syndrome bronchiectasis, chronic sinusitis and dextrocardia syndrome ciliary dyskinesia primary Editor note: we deliberately merge two MESHes here primary ciliary dyskinesia MONDO:0016576 Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect characterized by hypoplasia/ absence of central rays of the hands and feet (that can occur in one to all four digits), median clefts of the hands and/ or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/ toe to a lobster claw-like appearance of the hands and feet. SHFM can be an isolated malformation or can be a feature in various syndromes (ADULT syndrome, EEC syndrome). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported. FEWER digits SHFM ectrodactyly lobster-claw deformity split hand foot malformation split-hand deformity split-hand/foot malformation isolated split hand-split foot malformation split hand-split foot malformation split hand-foot malformation MONDO:0016577 Biliary atresia with splenic malformation syndrome (BASM) designates the association of biliary atresia and splenic abnormalities (mainly polysplenia and less frequently asplenia, double spleen). Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen. BASM syndrome biliary atresia with splenic malformation syndrome MONDO:0016579 dominant hypophosphatemia with nephrolithiasis or osteoporosis MONDO:0016580 An abnormality in lung development that is characterized by a multicystic mass resulting from an adenomatous overgrowth of the terminal bronchioles with a consequent reduction of pulmonary alveoli. This anomaly is classified into three types by the cyst size. https://github.com/monarch-initiative/mondo/issues/4069 CCAM CPAM congenital cystic adenomatoid malformation of lung congenital cystic adenomatoid malformation of the lung congenital cystic adenomatous malformation of the lung congenital cystic disease of the lung congenital cystic adenomatoid malformation cystic adenomatoid malformation of lung congenital pulmonary airway malformation MONDO:0016581 Conotruncal heart malformations are a group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome. A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon). https://github.com/monarch-initiative/mondo/issues/4521 Taussig-Bing syndrome or defect conotruncal heart malformations conotruncal heart malformations, variable CTHM Double-outlet right ventricle conotruncal anomaly face syndrome conotruncal cardiac defects interrupted aortic Arch persistent truncus arteriosus truncus arteriosus communis conotruncal heart malformations MONDO:0016582 https://github.com/monarch-initiative/mondo/issues/4069 congenital mitral malformation https://rarediseases.info.nih.gov/diseases/1495/congenital-mitral-malformation MONDO:0016583 Stalker-Chitayat syndrome Stalker Chitayat syndrome intestinal malrotation facial anomalies familial type familial intestinal malrotation-facial anomalies syndrome MONDO:0016584 Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy. MAD mandibuloacral dysplasia with lipodystrophy mandibuloacral dysplasia MONDO:0016586 Systemic mastocytosis (SM) comprises a heterogeneous group of rare acquired and chronic hematological malignancies that are related to an abnormal proliferation of mast cells in tissue, including bone marrow, with or without skin involvement. Mast cell disease SMCD - systemic mast cell disease systemic mastocytosis systemic tissue Mast cell disease systemic tissue mast cell disease Agressive systemic mastocytosis SM systemic mast cell disease systemic mastocytosis with associated hemotologic non-mast cell lineage disease (SM-AHNMD) systemic mastocytosis MONDO:0016587 Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death. ARVC ARVC cardiomyopathy ARVD arrhythmogenic RVD arrhythmogenic right ventricular cardiomyopathy arrhythmogenic right ventricular dysplasia arrhythmogenic right ventricular dysplasia/cardiomyopathy right ventricular dysplasia arrhythmogenic right ventricular cardiomyopathy MONDO:0016588 Infantile mercury poisoning is a rare intoxication affecting children, most commonly characterized by erythema of the hands, feet and nose, edematous, painful, pink to red, desquamating fingers and toes, bluish, cold and wet extremities, excessive sweating, irritability, photophobia, muscle weakness, diffuse hypotonia, paresthesia, hypertension and tachycardia, due to elemental, organic or inorganic mercury exposure. Additional manifestations include alopecia, loss of appetite, excessive salivation with red and swollen gums, tooth and nail loss, and insomnia. Feer disease Swift disease Swift-Feer disease erythroedema polyneuritis infantile acrodynia infantile mercury intoxication pink disease infantile mercury poisoning MONDO:0016589 PCCA progressive cerebello-cerebral atrophy MONDO:0016591 Sporadic adult-onset ataxia of unknown etiology describes a group of non-hereditary degenerative ataxias characterized by a slowly progressive cerebellar syndrome (with ataxia of stance and gait, upper limb dysmetria and intention tremor, ataxic speech, and oculomotor abnormalities), presenting in adulthood (at around 50 years of age), that is not due to a known cause. Extracerebellar symptoms (e.g., decreased vibration sense and absent or decreased ankle reflexes), polyneuropathy and mild autonomic dysfunction may also be present. Mild cognitive impairment has also rarely been reported. SAOA idiopathic late-onset cerebellar ataxia sporadic adult-onset ataxia of unknown etiology MONDO:0016592 non-hereditary degenerative ataxia MONDO:0016593 A type of ataxia that is acquired during the lifetime of the individual. acquired ataxia acquired ataxia MONDO:0016594 Superficial siderosis is a rare neurologic disease characterized by progressive sensorineural hearing loss, cerebellar ataxia, pyramidal signs, and neuroimaging findings revealing hemosiderin deposits in the spinal and cranial leptomeninges and subpial layer. The disease progresses slowly and patients may present with mild cognitive impairment, nystagmus, dysmetria, spasticity, dysdiadochokinesia, dysarthria, hyperreflexia, and Babinski signs. Additional features reported include dementia, urinary incontinence, anosmia, ageusia, and anisocoria. hemosiderosis of the central nervous system superficial hemosiderosis of the CNS superficial hemosiderosis of the central nervous system superficial siderosis of the CNS superficial siderosis of the central nervous system superficial siderosis MONDO:0016595 A rare acute systemic infection caused by the inhalation of Bacillus anthracis spores (e.g. through infected animal products, bioterrorism) and characterized by an initial stage where patients present with non specific symptoms (fever, cough, chills, fatigue) that is followed by an acute phase during which hemorrhagic mediastinitis occurs that can progress into meningitis, gastrointestinal involvement, and refractory shock, that can be fatal, if left untreated. inhalation anthrax disease pulmonary anthrax respiratory anthrax respiratory anthrax disease wool-sorters' disease woolsorters' disease inhalation anthrax inhalational anthrax MONDO:0016596 https://github.com/monarch-initiative/mondo/issues/5588 HPMR Mabry syndrome hyperphosphatasia with intellectual disability syndrome hyperphosphatasia with mental retardation syndrome hyperphosphatasia-intellectual disability syndrome MONDO:0016598 autosomal recessive secondary erythrocytosis not associated with VHL gene autosomal recessive secondary erythrocytosis, non-Chuvash type autosomal recessive secondary polycythemia, non-Chuvash type autosomal recessive secondary polycythemia not associated with VHL gene MONDO:0016599 Autosomal dominant form of secondary polycythemia. autosomal dominant secondary erythrocytosis secondary polycythemia, autosomal dominant autosomal dominant secondary polycythemia MONDO:0016600 Acute neonatal citrullinemia type I is a severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits. acute neonatal citrullinemia type 1 classic citrullinemia type 1 classic citrullinemia type I acute neonatal citrullinemia type I MONDO:0016601 Adult-onset citrullinemia type I is a form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur. adult-onset citrullinemia type 1 late-onset citrullinemia type 1 late-onset citrullinemia type I adult-onset citrullinemia type I MONDO:0016602 Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency). https://github.com/monarch-initiative/mondo/issues/4985 citrin deficiency citrin deficiency MONDO:0016603 Citrullinemia type II is a severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma. CTLN2 adult-onset citrin deficiency adult-onset type 2 citrullinemia adult-onset type II citrullinemia citrullinemia type 2 citrullinemia type II citrullinemia type II MONDO:0016604 Medeira-Dennis-Donnai syndrome dysraphism, cleft lip/palate, limb reduction defects dysraphism-cleft lip/palate-limb reduction defects syndrome MONDO:0016605 A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth. perinatal lethal Rathburn disease perinatal lethal phosphoethanolaminuria perinatal lethal hypophosphatasia MONDO:0016607 Odontohypophosphatasia (odonto-HPP) is the least severe form of hypophosphatasia characterized by premature exfoliation of primary and/or permanent teeth and/or severe dental caries, in the absence of skeletal system abnormalities. https://github.com/monarch-initiative/mondo/issues/5507 HPPO odontohypophosphatasia MONDO:0016608 A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with hydrocephalus; subdural effusion; arachnoid cysts; or is part of a genetic condition (e.g., alexander disease; sotos syndrome). megalencephaly (disease) macroencephaly megalencephaly megalencephaly (disease) megalencephaly MONDO:0016609 Inflammatory myopathy with abundant macrophages is a rare inflammatory myopathy characterized by diffuse destructive infiltration of CD68+ macrophages into the fascia rather than muscle fibers in muscle biopsies, proximal muscle weakness and myalgia with or without scaly dermatomyositis-like or atypical non-dermatomyositis-like skin lesions, elevation of creatine kinase levels and thickening of muscle fascia in muscle MRI. imam inflammatory myopathy with abundant macrophages MONDO:0016610 idiopathic eosinophilia-associated myopathy idiopathic eosinophilic myositis MONDO:0016611 A lipoma usually occurring in the extremities of young children (usually boys). It is characterized by lobules of adipose tissue, separated by fibrous septa. The adipose tissue is composed of mature adipocytes and lipoblasts. The lipoblasts may be scarce, depending on the age of the patient. embryonic lipoma fetal lipoma infantile lipoma lipoblastoma https://rarediseases.info.nih.gov/diseases/12015/lipoblastoma MONDO:0016612 X-linked form of cerebellar ataxia. X-linked hereditary ataxia cerebellar ataxia, X-linked hereditary ataxia, X-linked X-linked cerebellar ataxia MONDO:0016613 APC-related AFAP APC-related attenuated FAP APC-related attenuated familial adenomatous polyposis APC-related attenuated familial polyposis coli APC-related attenuated familial adenomatous polyposis MONDO:0016614 mild peroxismal disorder due to PEX10 deficiency autosomal recessive ataxia due to PEX10 deficiency MONDO:0016615 oligoarticular JIA with anti-nuclear antibodies pauciarticular chronic arthritis with anti-nuclear antibodies oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies MONDO:0016616 oligoarticular JIA without anti-nuclear antibodies pauciarticular chronic arthritis without anti-nuclear antibodies oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies MONDO:0016617 juvenile rheumatoid factor-negative polyarthritis with anti-nuclear antibodies polyarthritis without rheumatoid factor with anti-nuclear antibodies rheumatoid factor-negative JIA with anti-nuclear antibodies rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies MONDO:0016618 juvenile rheumatoid factor-negative polyarthritis without anti-nuclear antibodies polyarthritis without rheumatoid factor without anti-nuclear antibodies rheumatoid factor-negative JIA without anti-nuclear antibodies rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies MONDO:0016619 A rare autosomal recessive disorder characterized by developmental abnormalities of the skin, sweat glands, hair and nails. Patients have a reduced ability to sweat. Other signs and symptoms include hypotrichosis and teeth malformations. AR-HED autosomal recessive anhidrotic ectodermal dysplasia hypohidrotic ectodermal dysplasia, autosomal recessive anhidrotic ectodermal dysplasia, autosomal recessive hypohidrotic ectodermal dysplasia autosomal recessive autosomal recessive hypohidrotic ectodermal dysplasia https://rarediseases.info.nih.gov/diseases/2057/hypohidrotic-ectodermal-dysplasia-autosomal-recessive MONDO:0016620 A genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy. https://github.com/monarch-initiative/mondo/issues/3395 PDP PHO Touraine Solente Gole syndrome Touraine-Solente-Gole syndrome hypertrophic osteoarthropathy, primary hypertrophic osteoarthropathy, primary, autosomal recessive, type 1 hypertropic osteoarthropathy, primary idiopathic hypertrophic osteoarthropathy pachydermoperiostosis pachydermoperiostosis of nail pachydermoperiostosis of nail [ambiguous] pachydermoperiostosis syndrome PHOAR1 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 primary hypertrophic osteoarthropathy MONDO:0016621 Juvenile Huntington disease (JHD) is a form of Huntington disease (HD), characterized by onset of signs and symptoms before 20 years of age. JHD juvenile Huntington chorea Huntington disease, juvenile onset juvenile onset HD juvenile Huntington disease https://rarediseases.info.nih.gov/diseases/10510/juvenile-huntington-disease MONDO:0016622 Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report. Melhem Fahl syndrome fifteen dorsal vertebrae and rib pairs Melhem-Fahl syndrome https://rarediseases.info.nih.gov/diseases/3462/melhem-fahl-syndrome MONDO:0016624 constitutional rare deficiency anemia inherited deficiency anemia MONDO:0016625 An instance of deficiency anemia that is acquired during the lifetime of the individual. https://github.com/monarch-initiative/mondo/issues/254 rare acquired deficiency anemia acquired deficiency anemia MONDO:0016630 Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery. isolated delta-SPD isolated dense-SPD isolated dense-storage pool disease isolated delta-storage pool disease MONDO:0016638 familial hypodysfibrinogenemia MONDO:0016639 Lower limb malformation-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by severe, uni- or bilateral lower limb malformations (incl. tibial hypoplasia, split and rocker bottom-shaped feet, and oligosyndactyly), normal upper limbs and hypospadias. Additional dysmorphic features (e.g. short neck and low-set, large ears), atrial septal defect, ureteropelvic junction stenosis and slight septation of the spleen, have also been reported. There have been no further descriptions in the literature since 1977. Fried-Goldberg-Mundel syndrome lower limb malformation-hypospadias syndrome lower limb deficiency-hypospadias syndrome MONDO:0016641 Hecht-Scott syndrome limb transversal defect-cardiac anomaly syndrome MONDO:0016642 A generally slow growing tumor attached to the dura mater. It is composed of neoplastic meningothelial (arachnoidal) cells. It typically occurs in adults, often women and it has a wide range of histopathological appearances. Of the various subtypes, meningothelial, fibrous and transitional meningiomas are the most common. Most meningiomas are WHO grade I tumors, and some are WHO grade II or III tumors. Most subtypes share a common clinical behavior, although some subtypes are more likely to recur and follow a more aggressive clinical course. (Adapted from WHO) meningioma (disease) intracranial meningioma meningioma meningioma (disease) meningeal neoplasm meningothelial cell tumor primary meningeal tumor supratentorial meningioma meningioma MONDO:0016643 A group of rare bone development disorders characterized by an array of abnormalities affecting the eyes, forehead, and nose, and linked to midfacial dysraphia. The clinical picture is highly variable, but the major findings include hypertelorism, a broad nasal root, a large and bifid nasal tip, and widow's peak. Occasionally, abnormalities can include accessory nasal tags, cleft lip, ocular abnormalities (coloboma, cataract, microphthalmia), conductive hearing loss, basal encephalocele and/or agenesis of the corpus callosum. Intellectual deficit is rare and more likely to occur in cases where hypertelorism is severe or where there is extra-cranial involvement. median cleft face syndrome FND1 frontonasal dysplasia 1 median cleft syndrome frontonasal dysplasia MONDO:0016644 Logopenic progressive aphasia (lv-PPA) is a form of primary progressive aphasia (PPA), characterized by impaired single-word retrieval and naming and impaired repetition with spared single-word comprehension and object knowledge. LPA Logopenic primary progressive aphasia Logopenic variant PPA logopenic progressive aphasia https://rarediseases.info.nih.gov/diseases/10791/logopenic-progressive-aphasia MONDO:0016646 Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance. autosomal dominant optic atrophy and peripheral neuropathy MONDO:0016647 A rare type of Stickler syndrome characterized by moderate to severe sensorineural hearing loss, high myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia. Midface hypoplasia, cleft palate, as well as additional skeletal manifestations (such as platyspondyly, scoliosis, and tibial and femoral bowing at birth) have also been observed. Stickler syndrome, autosomal recessive autosomal recessive Stickler syndrome MONDO:0016648 Multiple epiphyseal dysplasias (MED/EDMs) are characterized by epiphyseal anomalies causing joint pain early in life, recurrent osteochondritis and early arthrosis. The EDMs are a heterogeneous group of diseases with variable expression classed as MED/EDMs 1-6. multiple epiphyseal dysplasia (disease) EDM MED Polyepiphyseal dysplasia multiple epiphyseal dysplasia multiple epiphyseal dysplasia (disease) polyepiphyseal dysplasia epiphyseal dysplasia, multiple multiple epiphyseal dysplasia MONDO:0016649 Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism. https://github.com/monarch-initiative/mondo/issues/5588 WARBM Warburg micro syndrome Warburg-Sjo-Fledelius syndrome micro syndrome microcephaly, microcornea, congenital cataract, intellectual disability, optic atrophy and hypogenitalism microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy and hypogenitalism Warburg micro syndrome MONDO:0016650 Paternal uniparental disomy of chromosome 1 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier. UPD(1)pat paternal uniparental disomy of chromosome type 1 paternal uniparental disomy of chromosome 1 MONDO:0016651 Maternal uniparental disomy of chromosome 1 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. UPD(1)mat maternal uniparental disomy of chromosome type 1 maternal uniparental disomy of chromosome 1 MONDO:0016652 2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. https://github.com/monarch-initiative/mondo/issues/3664 Del(2)(q31.1) monosomy 2q31.1 2q31.1 microdeletion syndrome MONDO:0016653 2q33.1 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features inlcude high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated. https://github.com/monarch-initiative/mondo/issues/3664 Del(2)(q33.1) monosomy 2q33.1 2q33.1 microdeletion syndrome MONDO:0016654 Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterized by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (incl. microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges). Ring chromosome type 5 rose cluster 5 R5 Ring 5 Ring chromosome 5 syndrome chromosome 5 ring ring chromosome 5 https://rarediseases.info.nih.gov/diseases/10841/ring-chromosome-5 MONDO:0016655 6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations. https://github.com/monarch-initiative/mondo/issues/3664 Del(6)(p22) monosomy 6p22 6p22 microdeletion syndrome MONDO:0016656 https://github.com/monarch-initiative/mondo/issues/3664 Del(7)(q31) monosomy 7q31 7q31 microdeletion syndrome MONDO:0016657 8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism. https://github.com/monarch-initiative/mondo/issues/3664 Del(8)(p11.2) monosomy 8p11.2 8p11.2 deletion syndrome MONDO:0016658 8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects. https://github.com/monarch-initiative/mondo/issues/3664 Del(8)(p23.1) monosomy 8p23.1 8p23.1 deletion chromosome 8p23.1 deletion deletion 8p23.1 8p23.1 microdeletion syndrome MONDO:0016659 8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly). https://github.com/monarch-initiative/mondo/issues/3492 8q21.11 Microdeletion Syndrome dup(8)(p23.1p23.1) trisomy 8p23.1 8p23.1 duplication syndrome https://rarediseases.info.nih.gov/diseases/10304/8p231-duplication-syndrome MONDO:0016660 Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. true microcephaly MCPH microcephalia vera microcephaly vera microcephaly, primary autosomal recessive microcephaly, primary, autosomal recessive autosomal recessive primary microcephaly https://rarediseases.info.nih.gov/diseases/12117/autosomal-recessive-primary-microcephaly MONDO:0016661 infantile onset panniculitis with uveitis and systemic granulomatosis MONDO:0016662 A rare autoinflammatory syndrome defined as recurrence of pericardial inflammation of unknown origin following the first episode of acute pericarditis and a symptom-free interval of 4-6 weeks or longer. Recurrent attacks of chest pain may be the sole presentation or the chest pain may be accompanied by pericardial friction rub, electrocardiographic or echocardiographic changes, pericardial effusion and increased C-reactive protein. Cardiac tamponade is a rare, life-threatening complication. idiopathic relapsing pericarditis idiopathic recurrent pericarditis MONDO:0016663 overlapping connective tissue disease MONDO:0016664 A skin hypersensitivity reaction due to exposure to a pharmacologic substance that is characterized by raised purpuric lesions, red macules, hemorrhagic blisters and ulcerations. drug induced cutaneous vasculitis drug induced vasculitis drug-induced vasculitis MONDO:0016666 https://github.com/monarch-initiative/mondo/issues/3570 unexplained long-lasting fever/inflammatory syndrome MONDO:0016667 https://github.com/monarch-initiative/mondo/issues/5114 2022-09-01 Double heterozygotes sickling disorder Reason: out of scope. MONDO:excludeGroupingClass. Term to consider:MONDO:0011382 sickle cell anemia sickle cell disease associated with an other hemoglobin anomaly https://rarediseases.info.nih.gov/diseases/12459/sickle-cell-disease-associated-with-an-other-hemoglobin-anomaly MONDO:0016668 Sickle beta thalassemia is an inherited condition that affects hemoglobin, the protein in red blood cells that carries oxygen to different parts of the body.It is a type of sickle cell disease. Affected people havea differentchange (mutation) in each copy of their HBB gene: onethat causes red blood cells to form a 'sickle' or crescent shape and a second that is associated with beta thalassemia, a blood disorder that reduces the production of hemoglobin. Depending on the beta thalassemia mutation, people may have no normal hemoglobin (called sickle beta zero thalassemia) or a reduced amount of normal hemoglobin (called sickle beta plus thalassemia). The presence of sickle-shaped red blood cells, which often breakdown prematurely and can get stuck in blood vessels, combined with the reduction or absence of mature redblood cells leadsto the many signs and symptoms of sickle beta thalassemia. Features, which may include anemia (low levels of red blood cells), repeated infections, and frequent episodes of pain, generally develop in early childhood and vary in severity depending on the amount of normal hemoglobin made. Sickle beta thalassemia is inherited in an autosomal recessive manner. Treatment is supportive and depends on the signs and symptoms present in each person. Hb S-Beta thalassemia HbS-beta-thalassemia syndrome S-Beta thalassemia sickle cell-Beta thalassemia sickle cell-Beta-thalassemia sickle cell-beta-thalassemia disease syndrome Hb S beta-thalassemia HbS - beta-thalassemia Hemoglobin sickle-beta thalassemia sickle beta thalassemia sickle cell - beta-thalassemia disease sickle cell-beta-thalassemia disease syndrome https://rarediseases.info.nih.gov/diseases/10333/sickle-beta-thalassemia MONDO:0016669 HbSC disease sickle cell - hemoglobin C disease sickle cell-hemoglobin c disease syndrome MONDO:0016670 HbSD disease sickle cell - hemoglobin D disease sickle cell-hemoglobin d disease syndrome MONDO:0016671 HbSE disease sickle cell-hemoglobin E disease syndrome MONDO:0016672 HPFH-sickle cell disease syndrome hereditary persistence of fetal hemoglobin-sickle cell disease syndrome MONDO:0016673 Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH) characterized by localized blistering, and dystrophic or absent nails. JEB-nH loc localized junctional epidermolysis bullosa, non-Herlitz type https://rarediseases.info.nih.gov/diseases/12923/localized-junctional-epidermolysis-bullosa-non-herlitz-type MONDO:0016674 46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype. 46,XY PGD 46,XY partial testicular dysgenesis Editor note: todo - make disjoint with complete form (some classes inherit from both) 46,XY partial gonadal dysgenesis MONDO:0016675 DA10 distal arthrogryposis type 10 plantar flexion contracture short Achilles tendon short tendo calcaneus arthrogryposis, distal, type 10 congenital plantar contractures tendo calcaneus, short distal arthrogryposis type 10 MONDO:0016676 Hyperzincemia and hypercalprotectinemia is a rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported. hyperzincemia and hypercalprotectinemia recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome MONDO:0016677 Congenital abnormalities caused by medicinal substances or drugs of abuse given to or taken by the mother, or to which she is inadvertently exposed during the manufacture of such substances. The concept excludes abnormalities resulting from exposure to non-medicinal chemicals in the environment. toxic or drug-related embryofetopathy MONDO:0016678 maternal disease-related embryofetopathy MONDO:0016680 An anaplastic astrocytoma (grade III astrocytic tumor) or glioblastoma (grade IV astrocytic tumor). high grade astrocytic neoplasm high grade astrocytic tumor high-grade astrocytic neoplasm high-grade astrocytic tumor high-grade astrocytoma high grade astrocytic tumor MONDO:0016681 A rare histological variant of glioblastoma (WHO grade IV) characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation (WHO). glioblastoma with a sarcomatous component glioblastoma with sarcomatous component gliosarcoma sarcomatous glioblastoma gliosarcoma https://rarediseases.info.nih.gov/diseases/5653/gliosarcoma MONDO:0016682 A rare histological variant of glioblastoma (WHO grade IV) with a predominance of bizarre, multinucleated giant cells, an occasionally abundant stromal reticulin network, and a high frequency of TP53 mutations. (WHO) Monstrocellular sarcoma Monstrocellular sarcoma [obs] giant cell glioblastoma MONDO:0016683 A diffuse glial tumor which infiltrates the brain extensively, involving more than two lobes. It is frequently bilateral and often extends to the infratentorial structures, even to the spinal cord. It is probably of astrocytic origin, although GFAP expression may be scant or absent. (Adapted from WHO.) astrocytosis cerebri gliomatosis gliomatosis cerebri gliomatosis cerebri (morphologic abnormality) gliomatosis cerebri https://rarediseases.info.nih.gov/diseases/6514/gliomatosis-cerebri MONDO:0016684 Anaplastic astrocytoma is a rare, high-grade, malignant glial tumor, histologically characterized by abundance of pleomorphic astrocytes and multiple mitotic figures, often associated with diffuse infiltration of the surrounding tissue, considerable edema and mass effect and involvement of the contralateral brain. Depending on the primary localization of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), seizures, progressive neurological deficits, and/or behavioral changes. The tumor is most commonly localized in the frontal and temporal lobes, brain stem and spinal cord. anaplastic astrocytoma astrocytoma, anaplastic, malignant grade III astrocytic neoplasm grade III astrocytic tumor grade III astrocytoma malignant astrocytoma anaplastic astrocytoma MONDO:0016685 low-grade astrocytoma MONDO:0016686 A low-grade (WHO grade II) astrocytic neoplasm. It is characterized by diffuse infiltration of neighboring central nervous system structures. These lesions typically affect young adults and have a tendency for progression to anaplastic astrocytoma and glioblastoma. Based on the IDH genes mutation status, diffuse astrocytomas are classified as IDH-mutant, IDH-wildtype, and not otherwise specified. WHO grade II astrocytoma astrocytoma, diffuse astrocytoma, diffuse, malignant diffuse astrocytoma grade II astrocytic neoplasm grade II astrocytic tumor grade II astrocytoma fibrillary astrocytoma (histologic variant) gemistocytic astrocytoma (histologic variant) low-grade diffuse astrocytoma protoplasmic astrocytoma (histologic variant) diffuse astrocytoma MONDO:0016687 A rare variant of diffuse astrocytoma. It is predominantly composed of neoplastic astrocytes showing a small cell body with few, flaccid processes with a low content of glial filaments and scant GFAP expression. This lesion is not well defined and is considered by some authors as an occasional histopathological feature rather than a reproducibly identifiable variant. When occurring in children, this neoplasm may be difficult to separate from pilocytic juvenile astrocytoma. (Adapted from WHO) protoplasmic astrocytic tumor protoplasmic astrocytoma protoplasmic astrocytoma (morphologic abnormality) protoplasmic astrocytoma MONDO:0016688 The most frequent histological variant of diffuse astrocytoma. It is predominantly composed of fibrillary neoplastic astrocytes. Nuclear atypia is a diagnostic criterion but mitotic activity, necrosis and microvascular proliferation are absent. The occasional or regional occurrence of gemistocytic neoplastic cells is compatible with the diagnosis of fibrillary astrocytoma. (WHO) fibrillary astrocytic tumors fibrillary astrocytoma fibrillary astrocytoma MONDO:0016689 A rare variant of diffuse astrocytoma. It is characterized by the presence of a conspicuous, though variable, fraction of gemistocytic neoplastic astrocytes. Gemistocytes are round to oval astrocytes with abundant, glassy, non-fibrillary cytoplasm which appears to displace the dark, angulated nucleus to the periphery of the cell. To make the diagnosis of gemistocytic astrocytoma, gemistocytes should amount to more than approximately 20% of all tumor cells. (Adapted from WHO) Gemistocytoma gemistocytic astrocytic tumor gemistocytic astrocytoma gemistocytic astrocytoma (morphologic abnormality) gemistocytic astrocytoma MONDO:0016690 A WHO grade ll astrocytic tumor with a relatively favorable prognosis. It is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies. It presents in the superficial cerebral hemispheres and involves the meninges. It typically affects children and young adults. PXA pleomorphic Xantho-astrocytoma pleomorphic xanthoastrocytoma https://rarediseases.info.nih.gov/diseases/10631/pleomorphic-xanthoastrocytoma MONDO:0016691 Pilocytic astrocytoma is a rare subtype of low-grade glioma of the central nervous system characterized by a well circumscribed, often cystic, brain tumor with a discrete mural nodule and long, hair-like projections that extend from the neoplastic astrocytes. Depending on the primary localization and the size of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), blurred vision, decreased visual acuity, ataxia and/or nystagmus, among others. It is most commonly located in the cerebellum, but ocurrence in the hypothalamus, brain stem, optic chiasma, and hemispheres has also been reported. Piloid astrocytoma astrocytoma, benign astrocytoma, pilocytic, benign grade I astrocytic neoplasm grade I astrocytic tumor grade I astrocytoma pilocytic astrocytoma pilocytic astrocytoma MONDO:0016692 An astrocytic tumor of uncertain relation to pilocytic astrocytoma. It occurs predominantly in infants and young children. It is characterized by a monomorphic architectural pattern, usually associated with the absence of Rosenthal fibers and eosinophilic granular bodies. The clinical course is usually aggressive. PMA The superclass assertion of pilocytic astrocytoma is not supported by NCIT. pilomyxoid astrocytoma MONDO:0016693 A benign, slowly growing tumor (WHO grade I) typically arising in the wall of the lateral ventricles and composed of large ganglioid astrocytes. It is the most common CNS neoplasm in patients with tuberous sclerosis complex and typically occurs during the first two decades of life. (WHO) SEGA subependymal giant cell astrocytic neoplasm subependymal giant cell astrocytic tumor subependymal giant cell astrocytoma (morphologic abnormality) subependymal giant cell astrocytoma https://rarediseases.info.nih.gov/diseases/10632/subependymal-giant-cell-astrocytoma MONDO:0016695 A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO) oligodendroglial neoplasm oligodendroglial tumor WHO grade II oligodendroglial neoplasm WHO grade II oligodendroglial tumor oligodendroglioma well differentiated oligodendroglial tumor well differentiated oligodendroglioma oligodendroglioma MONDO:0016696 A WHO grade III oligodendroglioma with focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity). WHO grade III oligodendroglial neoplasm WHO grade III oligodendroglial tumor anaplastic oligodendroglioma malignant oligodendroglioma oligodendroglioma, anaplastic, malignant oligodendroglioma, malignant undifferentiated oligodendroglioma anaplastic oligodendroglioma https://rarediseases.info.nih.gov/diseases/9472/anaplastic-oligodendroglioma MONDO:0016697 low grade ependymoma MONDO:0016698 A WHO grade II, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes. (WHO) benign ependymoma ependymoma epithelial ependymoma WHO grade II ependymal neoplasm WHO grade II ependymal tumor ependymoma, benign clear cell ependymoma (histologic variant) ependymoma, familial papillary ependymoma (histologic variant) tanycytic ependymoma (histologic variant) ependymoma MONDO:0016699 Myxopapillary ependymoma (MEPN) describes a slow growing ependymoma located almost exclusively in the conus medullaris-cauda equina-filum terminale region of the spinal cord, presenting in all age groups, and manifesting with variable symptoms such as neck pain, vomiting and unsteady gait and metastasis. It has a more aggressive disease course and is seen in the pediatric population. ependymoma, benign myxopapillary ependymoma myxopapillary ependymoma (morphologic abnormality) myxopapillary ependymoma https://rarediseases.info.nih.gov/diseases/10633/myxopapillary-ependymoma MONDO:0016700 Anaplastic ependymoma is a rare, malignant type of ependymoma that most often arises in the supratentorial region of the brain of children and young adults and that manifests with variable symptoms including headaches, nausea, vision impairment, memory loss and difficulty walking. https://github.com/monarch-initiative/mondo/issues/4450 ependymal tumors WHO grade III ependymal neoplasm WHO grade III ependymal tumor anaplastic ependymal neoplasm anaplastic ependymal tumor anaplastic ependymoma ependymoma, anaplastic, malignant ependymoma, malignant high-grade ependymoma malignant ependymoma undifferentiated ependymal neoplasm undifferentiated ependymal tumor undifferentiated ependymoma anaplastic ependymoma https://rarediseases.info.nih.gov/diseases/10634/anaplastic-ependymoma MONDO:0016701 mixed oligodendroglial and astrocytic tumor oligoastrocytic tumor MONDO:0016702 A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO) MOA WHO grade II mixed glioma glioma, mixed, benign mixed astrocytic-oligodendroglial neoplasm mixed astrocytic-oligodendroglial tumor mixed astrocytoma-oligodendroglioma mixed oligo-astrocytoma mixed oligoastrocytoma mixed oligodendroglioma-astrocytoma oligoastrocytoma oligoastrocytoma https://rarediseases.info.nih.gov/diseases/9769/oligoastrocytoma MONDO:0016703 An oligoastrocytoma characterized by the presence of increased cellularity, nuclear atypia, pleomorphism, and high mitotic activity. WHO grade III mixed glioma aMOA anaplastic mixed glioma anaplastic oligoastrocytoma AOAST anaplastic oligoastrocytoma https://rarediseases.info.nih.gov/diseases/10637/anaplastic-oligoastrocytoma MONDO:0016705 Angiocentric glioma (AG) is an extremely rare slow-growing glial neoplasm of the central nervous system, usually arising in a superficial location in the cerebrum, affecting all ages and both sexes, and characterized by intractable seizures and headaches, with most cases being cured by surgical incision alone and therefore having a good prognosis. Monomorphus angiocentric glioma angiocentric glioma (WHO grade I) angiocentric neuroepithelial tumor ANGL angiocentric glioma MONDO:0016706 A rare, slow-growing neuroepithelial neoplasm of uncertain origin affecting adults. It is located in the third ventricle. It is characterized by the presence of epithelioid cells which express GFAP, and mucinous stroma which contains lymphoplasmacytic infiltrates. chordoid glioma chordoid glioma (morphologic abnormality) chordoid glioma of 3rd ventricle chordoid glioma of the 3rd ventricle chordoid glioma of the third ventricle chordoid glioma of the third ventricle (WHO grade II) chordoid glioma of third ventricle third ventricle chordoid glioma chordoid glioma of the third ventricle https://rarediseases.info.nih.gov/diseases/10636/chordoid-glioma-of-the-third-ventricle MONDO:0016707 Astroblastoma is a very rare glial neoplasm of the central nervous system, most often with an intra-axial peripheral supratentorial location in one hemisphere of the frontal or parietal lobes and usually presenting in infants and young adults with symptoms of vomiting, loss of consciousness, epileptic seizures and headaches. astroblastoma astroblastoma (morphologic abnormality) AstB cerebral astroblastoma astroblastoma https://rarediseases.info.nih.gov/diseases/10635/astroblastoma MONDO:0016708 embryonal tumor of neuroepithelial tissue MONDO:0016709 A medulloblastoma composed of sheets of large cells mixed with cells characterized by marked nuclear pleomorphism and high mitotic activity. large cell/anaplastic medulloblastoma anaplastic/large cell medulloblastoma MONDO:0016710 Medulloblastoma with extensive nodularity (MBEN) is a histological variant of medulloblastoma, an embryonic malignancy, most often located in the inferior medullary velum and then growing into the fourth ventricle, and presenting in infants and young children with symptoms of increased intracranial pressure such as headache, listlessness, vomiting, diplopia and papilledema. It is often associated with Gorlin syndrome and has a relatively good prognosis. MBEN cerebellar neuroblastoma medulloblastoma with extensive nodularity medulloblastoma with extensive nodularity and advanced neuronal differentiation nodular medulloblastoma medulloblastoma with extensive nodularity MONDO:0016711 A histological variant of medulloblastoma, an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache. https://github.com/monarch-initiative/mondo/issues/3139 Desmoplastic medulloblastoma desmoplastic medulloblastoma desmoplastic nodular medulloblastoma desmoplastic/nodular medulloblastoma desmoplastic/nodular medulloblastoma MONDO:0016712 Classic medulloblastoma is a histological variant of medulloblastoma, an embryonic malignancy, having a midline location, occurring most often in children and manifesting with variable symptoms such as headaches, nausea, vomiting and ataxia. classic medulloblastoma classic medulloblastoma MONDO:0016713 A rare Ewing sarcoma/peripheral primitive neuroectodermal tumor that affects the central nervous system either as a primary dural neoplasm or by direct extension from adjacent soft tissues or bone. central nervous system PNET central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor CNS PNET central nervous system primitive neuroectodermal tumor Editor note: this is a leaf class in NCIT but Orphanet includes various classifications, e.g. ependymoblastoma central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor MONDO:0016715 Ependymoblastoma is a rare type of primitive neuroectodermal tumor (PNET) that usually occurs in young children under the age of 2 and is histologically distinguished by the production of ependymoblastic rosettes. It is associated with an aggressive course and a poor prognosis. ETMR, C19MC-altered embryonal tumor with Multilayered Rosettes embryonal tumor with Multilayered Rosettes with C19MC amplification embryonal tumor with Multilayered Rosettes, C19MC-altered embryonal tumor with abundant neuropil and true Rosettes ependymoblastoma ETANTR ETMR embryonal tumor with abundant neuropil and true rosettes neuroectodermal tumors primitive ependymoblastoma MONDO:0016717 An intraventricular papillary neoplasm that originates from the choroid plexus epithelium. It includes the choroid plexus papilloma, atypical choroid plexus papilloma, and choroid plexus carcinoma. choroid plexus neoplasm choroid plexus tumor neoplasm of choroid plexus neoplasm of the choroid plexus tumor of choroid plexus tumor of the choroid plexus Editor note: see ticket on ncit tracker choroid plexus neoplasm MONDO:0016718 A malignant neoplasm arising from the choroid plexus. It shows anaplastic features and usually invades neighboring brain structures. Cerebrospinal fluid metastases are frequent. (Adapted from WHO) https://github.com/monarch-initiative/mondo/issues/5507 cancer of choroid plexus cancer of the choroid plexus choroid plexus cancer malignant neoplasm of choroid plexus malignant neoplasm of the choroid plexus malignant tumor of choroid plexus anaplastic choroid plexus papilloma carcinoma of choroid plexus carcinoma of the choroid plexus carcinoma, choroid plexus, malignant choroid plexus carcinoma choroid plexus carcinoma (morphologic abnormality) choroid plexus carcinoma MONDO:0016719 Microcephaly-seizures-intellectual disability-heart disease syndrome is characterised by intellectual deficit, a cardiac anomaly, micropenis, hypothyroidism, epileptic seizures, and skeletal anomalies. It has been described in two males. https://github.com/monarch-initiative/mondo/issues/5588 microcephaly seizures intellectual disability heart disorders microcephaly seizures mental retardation heart disorders microcephaly, seizures, intellectual disability, congenital heart disease, and skeletal abnormalities microcephaly, seizures, mental retardation, congenital heart disease, and skeletal abnormalities microcephaly-seizures-intellectual disability-heart disease syndrome MONDO:0016721 pineal tumor of neuroepithelial tissue MONDO:0016722 Pineoblastoma is a rare, malignant type of supratentorial primitive neuroectodermal tumor (sPNET), found mainly in children (less than 10% of cases are reported in adults), and located in the pineal region of the brain but that can metastasize along the neuroaxis. As it is the most aggressive of the pineal parenchymal tumors, it is usually associated with a poor prognosis. PNET of pineal gland PNET of the pineal gland pineal PNET pineal gland PNET pineal gland primitive neuroectodermal neoplasm pineal gland primitive neuroectodermal tumor pineal primitive neuroectodermal neoplasm pineal primitive neuroectodermal tumor pineoblastoma pineoblastoma (WHO grade IV) pineoblastoma, malignant primitive neuroectodermal neoplasm of pineal gland primitive neuroectodermal neoplasm of the pineal gland primitive neuroectodermal tumor of pineal gland primitive neuroectodermal tumor of the pineal gland pineoblastoma https://rarediseases.info.nih.gov/diseases/9369/pineoblastoma MONDO:0016723 Pineocytoma is the least aggressive form of pineal parenchymal tumors, manifesting with symptoms such as Parinaud's syndrome (a group of eye movement abnormalities and pupil dysfunction, including deficiency in upward-gaze and convergence-retraction nystagmus), headaches, balance impairment, urinary incontinence, and changes in mood and that are not known to disseminate in a diffuse manner. They are usually associated with a good prognosis. pineocytoma (disease) Pineocytoma (WHO grade I) benign pinealoma pinealocytoma pineocytoma pineocytoma (disease) pineocytoma, benign pineocytoma MONDO:0016724 Papillary tumor of the pineal region (PTPR) is a very rare neoplasm of the pineal region that is thought to arise from the specialized ependymocytes of the subcommissural organ and that manifests with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus. PTPR papillary tumor of the pineal region MONDO:0016725 Pineal parenchymal tumor of intermediate differentiation (PPTID) describes a rare type of pineal parenchymal tumor (PPT) of intermediate-grade malignancy manifesting with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus, and that is classified as either grade II PPTID or grade III PPTID according to the degree of neuronal differentiation and mitotic activity. pineal parenchymal tumor of intermediate differenciation MONDO:0016726 neuronal tumor MONDO:0016727 Extraventricular neurocytoma (EVN), a variant of central neurocytoma, is a rare neuronal neoplasm, composed of round cells with neuronal differentiation, which is located outside of the ventricular system, usually within the spinal cord or cerebral hemispheres and that manifests with headache, nausea, vomiting, complex partial seizures or focal neurological deficits. In some cases it may exhibit atypical features consistent with aggressive clinical behavior. EVN extraventricular neurocytoma (WHO grade II) extraventricular neurocytoma MONDO:0016729 A group of central nervous system neoplasms with a variable amount of neuronal and, less consistently, glial differentiation. They occur at a low frequency and usually carry a favorable prognosis. Representative examples include dysplastic cerebellar gangliocytoma, desmoplastic infantile ganglioglioma, desmoplastic infantile astrocytoma, and dysembryoplastic neuroepithelial tumor. (Adapted from WHO) neuronal and Glio-neuronal neoplasm neuronal and Glio-neuronal tumor neuronal and mixed neuronal-glial tumor neuronal and mixed neuronal-glial tumors mixed neuronal-glial tumor MONDO:0016730 A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells. GNC gangliocytoma https://rarediseases.info.nih.gov/diseases/10638/gangliocytoma MONDO:0016731 Desmoplastic infantile astrocytoma/ganglioglioma are mixed neuronal-glial tumors representing a histological spectrum of the same tumor. They are usually supratentorially located, large, cystic masses with a peripheral solid component, characterized by prominent desmoplastic stroma and pleomorphic populations of neoplastic cells with either astrocytic or ganglionic differentiation and poorly differentiated cells in variable proportions. They usually present in the first 18 months of age with rapid head growth, bulging anterior fontanel and bone structures over the tumor, signs of raised intracranial pressure (headache, vomiting, papilledema), focal neurological signs and sometimes seizures. DIA/DIG desmoplastic infantile astrocytoma/ganglioglioma MONDO:0016733 A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and neoplastic glial cells. Some gangliogliomas show anaplastic features in their glial component and are considered to be WHO grade III. Rare cases of newly diagnosed gangliogliomas with grade IV (glioblastoma) changes in the glial component have also been reported. (Adapted from WHO) CNS ganglioglioma adult ganglioglioma childhood ganglioglioma ganglioglioma mixed cell tumors containing both neural ganglionic cells and neural glial cell components ganglioglioma https://rarediseases.info.nih.gov/diseases/2430/ganglioglioma MONDO:0016734 A WHO grade III neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and anaplastic glial cells. The anaplastic changes in the glial component and high MIB-1 and TP53 labeling indices may indicate aggressive behavior. However, the correlation of histological anaplasia with clinical outcome is inconsistent. (Adapted from WHO) AGNG anaplastic ganglioglioma https://rarediseases.info.nih.gov/diseases/10639/anaplastic-ganglioglioma MONDO:0016735 A WHO grade I, indolent and relatively circumscribed brain tumor. Morphologically it is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae. In between the pseudopapillae aggregates of neurocytes, large neurons, and ganglioid cells are present. PGNT papillary glioneuronal tumor (WHO grade I) pseudopapillary ganglioglioneurocytoma pseudopapillary neurocytoma with glial differentiation papillary glioneuronal tumor MONDO:0016736 A central nervous system neoplasm mostly occurring in the fourth ventricle region. It is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers. Cytologic atypia is minimal. DNT of the cerebellum RGNT dysembryoplastic neuroepithelial tumor of cerebellum rosette-forming glioneuronal tumor rosette-forming glioneuronal tumor of fourth ventricule MONDO:0016738 primary germ cell tumor of CNS primary germ cell tumor of central nervous system MONDO:0016739 A malignant germ cell tumor of the central nervous system composed of primitive-appearing epithelial cells - putatively representing yolk sac endoderm - set in a loose, variably cellular, and often conspicuously myxoid matrix, resembling extra-embryonic mesoblast. Eosinophilic hyaline globules immunoreactive for AFP are a diagnostic feature. (WHO) CNS yolk Sac tumor central nervous system yolk Sac tumor endodermal sinus tumor of CNS endodermal sinus tumor of central nervous system intracranial endodermal sinus tumor intracranial yolk sac tumor yolk Sac tumor of CNS yolk Sac tumor of central nervous system yolk Sac tumor of the CNS yolk Sac tumor of the central nervous system yolk sac tumor of CNS yolk sac tumor of central nervous system MONDO:0016740 A malignant germ cell tumor of the central nervous system characterized by extra-embryonic differentiation along trophoblastic lines. The diagnosis requires the identification of cytotrophoblastic elements, as well as syncytiotrophoblastic giant cells. (WHO) central nervous system choriocarcinoma central nervous system choriocarcinoma (disease) choriocarcinoma of CNS choriocarcinoma of the CNS choriocarcinoma of the central nervous system MONDO:0016742 A malignant germ cell tumor of the central nervous system characterized by the presence of at least two types of germ cell neoplasia. CNS mixed germ cell tumor central nervous system mixed germ cell tumor mixed germ cell neoplasm of the central nervous system mixed germ cell tumor of CNS mixed germ cell tumor of the CNS mixed germ cell tumor of the central nervous system mixed germ cell tumor of central nervous system MONDO:0016743 A benign or malignant neoplasm that affects the meninges. The majority of the neoplasms arise from meningothelial cells and are called meningiomas. Non-meningothelial cell neoplasms include mesenchymal, non-meningothelial tumors, hemangiopericytomas, and melanocytic lesions. meningeal cluster neoplasm meningeal cluster neoplasm (disease) meningeal cluster rare nervous system tumor meningeal cluster tumor meningeal neoplasm meningeal neoplasms meningeal tumor meninges neoplasm meninges tumor neoplasm of meningeal cluster neoplasm of meninges neoplasm of the meninges tumor of meningeal cluster tumor of meninges tumor of the meninges meningothelial tumor tumor of meninges MONDO:0016744 primary melanocytic lesion of CNS primary melanocytic lesion of central nervous system primary melanocytic tumor of CNS primary melanocytic tumor of central nervous system MONDO:0016745 Diffuse leptomeningeal melanocytosis is a rare tumor of meninges arising from leptomeningeal melanocytes, characterized by diffuse infiltration of the leptomeninges (pia mater and arachnoidea) anywhere in the central nervous system. Clinical features may include stillbirth, intracranial hypertension and hydrocephalus, seizure, ataxia, syringomyelia, cranial nerve palsy, intracranial haemorrhage, sphincter dysfunction and neuropsychiatric symptoms. Transformation into malignant melanoma of the central nervous system was reported. It may be associated with congenital nevi, as a part of neurocutaneous melanosis. leptomeningeal melanomatosis DLM diffuse leptomeningeal melanocytosis MONDO:0016746 A usually well differentiated melanocytic neoplasm arising from the meninges. It is characterized by the presence of epithelioid, fusiform, polyhedral, and spindle melanocytes without evidence of hemorrhage, necrosis, or high mitotic activity. Presenting symptoms include headache, vomiting, and neurological manifestations. Complete excision is usually curative. leptomeningeal melanocytoma melanocytoma of meninges melanocytoma of the meninges meninges melanocytoma meningeal melanocytoma MONDO:0016747 A melanoma that affects the central nervous system. It is characterized by pleomorphism, melanin pigmentation, a high mitotic rate, necrosis, and hemorrhage. It is a highly aggressive and radioresistant tumor. The prognosis is usually poor. CNS melanoma Central nervous system melanoma central nervous system melanoma central nervous system melanoma (disease) melanoma (disease) of central nervous system melanoma of CNS melanoma of central nervous system melanoma of the CNS melanoma of the Central nervous system malignant melanoma of meninges primary CNS melanoma primary melanoma of the CNS primary meningeal melanoma primary melanoma of the central nervous system https://rarediseases.info.nih.gov/diseases/12016/primary-melanoma-of-the-central-nervous-system MONDO:0016748 Hemangioblastoma is a rare, benign, highly vascularized tumor of the central nervous system, most often located in the cerebellum or spinal cord, presenting in adulthood and manifesting with dizziness, nausea, malaise, headache, bladder or bowel dysfunction, numbness, weakness and pain in the upper or lower extremities, and often associated with von Hippel-Lindau disease (VHL). Exceptional cases of hemangioblastoma arising outside of the central nervous system have been reported. angioblastoma capillary hemangioblastoma hemangioblastoma HMBL hemangioblastoma MONDO:0016749 rare tumor of cranial and spinal nerves tumor of cranial and spinal nerves https://rarediseases.info.nih.gov/diseases/12697/tumor-of-cranial-and-spinal-nerves MONDO:0016750 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983. https://github.com/monarch-initiative/mondo/issues/5588 Halal syndrome microcephaly cleft palate autosomal dominant microcephaly-cleft palate-abnormal retinal pigmentation syndrome microcephaly-cleft palate syndrome MONDO:0016751 A very rare malignant tumor with morphologic features similar to those of benign perineurioma of soft tissue along with hypercellularity, nuclear atypia, hyperchromasia, and a high mitotic rate. malignant peripheral nerve sheath tumor with perineurial differentiation perineurial malignant peripheral nerve sheath tumor perineurioma, malignant malignant perineurioma MONDO:0016752 BPNST Editor note: consider relationship to granular cell tumor benign peripheral nerve sheath tumor MONDO:0016755 An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors. neurofibroma neurofibroma (WHO grade I) neurofibroma, benign NFIB neurofibroma https://rarediseases.info.nih.gov/diseases/7191/neurofibroma MONDO:0016756 inherited nervous system cancer-predisposing syndrome MONDO:0016757 Malignant triton tumor (MTT) is a rare aggressive subtype of malignant peripheral nerve sheath tumor (MPNST) characterized histopathologically by focal rhabdomyoblastic differentiation. MPNST with rhabdomyoblastic differentiation MPNST with rhabdomyosarcoma MPNST with rhabdomyosarcomatous differentiation MTT malignant Triton tumour malignant neoplasm of peripheral nerve sheath with rhabdomyosarcoma malignant neoplasm of the peripheral nerve sheath with rhabdomyosarcoma malignant peripheral nerve sheath neoplasm with rhabdomyosarcoma malignant peripheral nerve sheath tumor with rhabdomyosarcoma malignant peripheral nerve sheath tumor with rhabdomyosarcomatous differenciation malignant tumor of peripheral nerve sheath with rhabdomyosarcoma malignant tumor of the peripheral nerve sheath with rhabdomyosarcoma malignant triton tumor MONDO:0016758 Microcephaly-brain defect-spasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. Only one familial case with three affected siblings reported and there have been no further descriptions in the literature since 1986. Franek-Bocker-Kahlen syndrome microcephaly - brain defect - spasticity - hypernatremia microcephaly brain defect spasticity hypernatremia microcephaly-brain defect-spasticity-hypernatremia syndrome https://rarediseases.info.nih.gov/diseases/3607/microcephaly-brain-defect-spasticity-hypernatremia MONDO:0016759 Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty. PCH2 progressive microcephaly from birth extrapyramidal dyskinesia chorea epilepsy pontocerebellar hypoplasia type 2 https://rarediseases.info.nih.gov/diseases/10705/pontocerebellar-hypoplasia-type-2 MONDO:0016760 Microcephaly-microcornea syndrome, Seemanova type is characterised by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait. https://github.com/monarch-initiative/mondo/issues/5588 Seemanova-Lesny syndrome Seemanova Lesny syndrome X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation microcephaly microcornea syndrome Seemanova type microcephaly-microcornea syndrome, Seemanova type https://rarediseases.info.nih.gov/diseases/3627/microcephaly-microcornea-syndrome-seemanova-type MONDO:0016761 An osteochondrodysplasia that results in abnormalities of bone growth located in vertebral column, located in epiphysis, located in metaphysis. https://github.com/monarch-initiative/mondo/issues/4948 spondyloepiphyseal dysplasia SED and SEMD spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia spondyloepiphyseal dysplasia MONDO:0016762 Microcornea-corectopia-macular hypoplasia syndrome is characterised by microcornea, which may also be accompanied by corectopia and macular hypoplasia. It has been described in three individuals from two successive generations of one family. microcornea corectopia macular hypoplasia microcornea-corectopia-macular hypoplasia syndrome MONDO:0016763 Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life. https://github.com/monarch-initiative/mondo/issues/4948 spondylometaphyseal dysplasia spondylometaphyseal dysplasia MONDO:0016764 Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit. MAC spectrum microphthalmia-anophthalmia-coloboma spectrum nonsyndromic anophthalmia-microphthalmia syndrome clinical anophthalmia isolated anophthalmia - microphthalmia isolated pure microphthalmia primitive anophthalmia isolated anophthalmia-microphthalmia syndrome MONDO:0016765 19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. https://github.com/monarch-initiative/mondo/issues/3664 Del(19)(p13.12) monosomy 19p13.12 Chromosome19p13.12 microdeletion 19p13.12 microdeletion syndrome https://rarediseases.info.nih.gov/diseases/10991/19p1312-microdeletion-syndrome MONDO:0016769 Linear lichen planus (LLP), also referred to as Blaschkoid LP, is a rare type of lichen planus characterized by a linear distribution of lichenoid lesions along the lines of Blaschko, which are embryonic pathways of skin development. Blaschkoid LP Blaschkoid lichen planus linear LP llp linear lichen planus https://rarediseases.info.nih.gov/diseases/11898/linear-lichen-planus MONDO:0016770 Actinic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of photo-distributed lichenoid lesions. actinic LP lichen planus actinus lichen planus subtropicus lichen planus tropicus lichenoid melanodermatitis summertime actinic lichenoid eruption actinic lichen planus https://rarediseases.info.nih.gov/diseases/12673/actinic-lichen-planus MONDO:0016771 Annular atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by both annular and atrophic LP features in the same lesion. annular atrophic LP annular atrophic lichen planus https://rarediseases.info.nih.gov/diseases/12676/annular-atrophic-lichen-planus MONDO:0016772 Annular lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of annular lesions. annular LP annular lichen planus https://rarediseases.info.nih.gov/diseases/12674/annular-lichen-planus MONDO:0016773 Atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of pale papules or plaques with an atrophic center. atrophic LP atrophic lichen planus https://rarediseases.info.nih.gov/diseases/12675/atrophic-lichen-planus MONDO:0016774 Lichen planus (LP) pigmentosus is a rare variant of cutaneous lichen planus characterized by the presence of hyperpigmented lichenoid lesions in sun-exposed or flexural areas of the body. LP pigmentosa LP pigmentosus lichen planus pigmentosa lichen planus pigmentosus inversus lichen planus pigmentosus https://rarediseases.info.nih.gov/diseases/10816/lichen-planus-pigmentosus MONDO:0016775 Lichen planus (LP) pemphigoides is a rare cross-over syndrome between lichen planus and bullous pemphigoid. LP pemphigoides lichen planus pemphigoides https://rarediseases.info.nih.gov/diseases/12677/lichen-planus-pemphigoides MONDO:0016776 Frontal fibrosing alopecia (FFA) is a rare variant of lichen planopilaris characterized by symmetrical, progressive, band-like anterior hair loss of the scalp. FFA frontal fibrosing alopecia https://rarediseases.info.nih.gov/diseases/10886/frontal-fibrosing-alopecia MONDO:0016777 Inhalational botulism is a man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs). inhalation botulism inhalational botulism MONDO:0016778 Iatrogenic botulism is the most recent man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and it may occur as an adverse event after therapeutic or cosmetic use. accidental botulism inadvertent botulism iatrogenic botulism MONDO:0016779 Kagami-Ogata syndrome is a rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoskoliosis, joint contractures, diastasis recti, muscular hypotonia. There is increased risk of hepatoblastoma. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/5588 MCA due to 14q32.2 maternally expressed gene defect multiple congenital anomalies due to 14q32.2 maternally expressed gene defect MONDO:0016780 https://github.com/monarch-initiative/mondo/issues/3664 paternal del(14)(q32.2) paternal monosomy 14q32.2 paternal 14q32.2 microdeletion syndrome MONDO:0016781 maternal del(14)(q32.2) maternal monosomy 14q32.2 maternal 14q32.2 microdeletion syndrome MONDO:0016782 paternal 14q32.2 hypomethylation syndrome MONDO:0016783 maternal 14q32.2 hypermethylation syndrome MONDO:0016785 Complete hydatidiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of an enucleated ovocyte by one or two haploid spermatozoa that can manifest with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, risk of spontaneous miscarriage, hyperthyroidism, and has the potential of developing into choriocarcinoma. classical hydatidiform Mole complete Mole complete hydatid Mole complete molar pregnancy complete hydatidiform mole MONDO:0016786 Partial hydatiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of a normal ovocyte by two spermatozoa or one abnormal spermatozoon (allowing for some fetal development), and that manifests with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, hyperthyroidism and risk of spontaneous miscarriage. incomplete hydatid Mole incomplete hydatidiform mole incomplete molar pregnancy partial Mole partial hydatid Mole partial molar pregnancy PHM partial hydatidiform mole MONDO:0016787 An epithelioid trophoblastic tumor is an extremely rare gestational trophoblastic tumor (GTT) which generally occurs several years after pregnancy. epithelioid trophoblastic tumor ETT epithelioid trophoblastic tumor MONDO:0016789 An inherited metabolic disease that is has its basis in the disruption of pyruvate metabolic process. inborn error of pyruvate metabolic process inborn pyruvate metabolic process disorder rare inborn error of pyruvate metabolic process pyruvate metabolism disorder MONDO:0016790 An inherited metabolic disease that is has its basis in the disruption of tricarboxylic acid cycle. Krebs cycle disorder TCA cycle disorder citric acid cycle disorder inborn error of tricarboxylic acid cycle inborn tricarboxylic acid cycle disorder rare inborn error of tricarboxylic acid cycle tricarboxylic acid cycle disorder MONDO:0016794 maternally-inherited mitochondrial myopathy MONDO:0016796 Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features. mtDNA depletion syndrome, encephalomyopathic form mitochondrial DNA depletion syndrome, encephalomyopathic form MONDO:0016797 A mitochondrial oxidative phosphorylation disorder in which mitochondrial DNA (mtDNA) level is lower than normal. multiple mtDNA deletion syndrome multiple mitochondrial DNA deletion syndrome MONDO:0016798 ataxia neuropathy spectrum MONDO:0016800 mitochondrial membrane transport disorder MONDO:0016801 mitochondrial substrate carrier disorder MONDO:0016802 mitochondrial protein import disorder MONDO:0016803 unspecified mitochondrial disorder unspecified inborn mitochondrial disorder MONDO:0016805 isolated respiratory chain complex disorder isolated oxidative phosphorylation complex disorder MONDO:0016806 Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity. maternally-inherited mitochondrial dystonia MONDO:0016807 Pure mitochondrial myopathy is a rare mitochondrial disease characterized by exclusive skeletal muscle involvement, without clinical evidence of other organ involvement, manifesting with progressive limb weakness, proximal limb muscle atrophy, and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia, and diminished deep tendon reflexes. pure mitochondrial myopathy MONDO:0016808 https://github.com/monarch-initiative/mondo/issues/5166 2022-10-01 deoxyguanosine kinase deficiency mtDNA depletion syndrome, hepatocerebral form Reason: duplicate. This OMIM ID seems to represent the whole series. This will be merged with MONDO:0014943 mitochondrial DNA depletion syndrome 15 (hepatocerebral type) mitochondrial DNA depletion syndrome, hepatocerebral form MONDO:0016809 MSCAE SCAE mitochondrial spinocerebellar ataxia with epilepsy spinocerebellar ataxia with epilepsy MONDO:0016810 Autosomal recessive form of progressive external ophthalmoplegia. arPEO progressive external ophthalmoplegia, autosomal recessive autosomal recessive progressive external ophthalmoplegia MONDO:0016811 Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in Gracile syndrome and that can be associated with encephalopathy and psychiatric disorders. renal tubulopathy-encephalopathy-liver failure syndrome MONDO:0016812 Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency. DYT5 dystonia HPD with diurnal fluctuation Segawa's disease dopa-responsive dystonia hereditary progressive dystonia with diurnal fluctuation DYT-GCH1 (subtype) DYT-SPR (subtype) DYT-TH (subtype) DYT5 dopa-responsive dystonia MONDO:0016814 Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA. MILS maternally-inherited Leigh disease maternally-inherited infantile subacute necrotizing encephalopathy Leigh disease, maternally inherited Subacute necrotizing encephalomyelopathy maternally inherited maternally inherited Leigh syndrome mitochondrial DNA-associated Leigh syndrome maternally-inherited Leigh syndrome MONDO:0016815 https://github.com/monarch-initiative/mondo/issues/4985 Leigh disease with leukodystrophy infantile subacute necrotizing encephalopathy with leukodystrophy Leigh syndrome with leukodystrophy MONDO:0016816 Leigh disease with nephrotic syndrome infantile subacute necrotizing encephalopathy with nephrotic syndrome Leigh syndrome with nephrotic syndrome MONDO:0016817 Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure). Meier-Gorlin syndrome ear-patella-short stature syndrome Meier-Gorlin syndrome MONDO:0016818 Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities). microcephaly-hypergonadotropic hypogonadism-short stature syndrome Mikati-Najjar-Sahli syndrome MONDO:0016819 This syndrome is characterized by the association of MC6bius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism. Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome MONDO:0016820 Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes. idiopathic Moyamoya disease progressive intracranial arterial occlusion MYMY Moyamoya disease, primary Moyamoya disease, secondary Moyamoya disease MONDO:0016821 https://github.com/monarch-initiative/mondo/issues/5588 shoulder girdle defect intellectual disability familial shoulder girdle defect mental retardation familial shoulder and girdle defects-familial intellectual disability syndrome MONDO:0016822 A rare systemic disease characterized by severe myalgia and peripheral eosinophilia associated with tryptophan dietary supplementation. The symptoms do not subside after tryptophan discontinuation. Clinical presentation includes muscle tenderness and cramps, fatigue, weakness, paresthesia, peripheral edema, arthralgia, dyspnea, skin rash, dry mouth, and development of scleroderma-like skin abnormalities. myalgia-eosinophilia syndrome associated with tryptophan MONDO:0016823 Mycetomas are subcutaneous inflammatory pseudotumors containing fungal or actinomycetic (bacteria with branched filaments) granules or grains. Madura foot mycetoma MONDO:0016824 A benign, multifocal, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma. infantile hemangiopericytoma infantile myofibromatosis multicentric myofibromatosis myofibromatosis IMS infantile myofibromatosis https://rarediseases.info.nih.gov/diseases/2998/infantile-myofibromatosis MONDO:0016825 Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973. mitochondrial myopathy with lactic acidosis mitochondrial myopathy-lactic acidosis-hearing loss syndrome MMLA metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness mitochondrial myopathy-lactic acidosis-deafness syndrome https://rarediseases.info.nih.gov/diseases/3682/mitochondrial-myopathy-with-lactic-acidosis MONDO:0016826 An inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ). combined defect in adenosylcobalamin and methylcobalamin synthesis methylmalonic aciduria with homocystinuria methylmalonic acidemia and homocystinemia methylmalonic aciduria and homocystinuria https://rarediseases.info.nih.gov/diseases/3579/methylmalonic-acidemia-with-homocystinuria MONDO:0016827 https://github.com/monarch-initiative/mondo/issues/5588 myopathy-growth delay-intellectual disability-hypospadias syndrome MONDO:0016828 Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin. congenital sideroblastic anemia ARSA sideroblastic anemia, autosomal recessive autosomal recessive sideroblastic anemia MONDO:0016829 A rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n. familial hollow visceral myopathy hereditary hollow visceral myopathy megaduodenum and/or megacystis pseudoobstruction idiopathic intestinal visceral myopathy familial familial visceral myopathy MONDO:0016830 Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy. EDMD Emery-Dreifuss muscular dystrophy Humeroperoneal neuromuscular disease, (formerly) scapuloperoneal syndrome, X-linked (formerly) Emery-Dreifuss muscular dystrophy MONDO:0016831 linear hamartoma syndrome linear verrucous nevus syndrome MONDO:0016832 Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported. https://github.com/monarch-initiative/mondo/issues/3492 Dup7q11.23D distal dup(7)(q11.23) distal trisomy 7q11.23 distal 7q11.23 microduplication syndrome MONDO:0016833 14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. https://github.com/monarch-initiative/mondo/issues/3664 Del(14)(q12) monosomy 14q12 14q12 microdeletion syndrome MONDO:0016834 16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behaviour, behavioural problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described. https://github.com/monarch-initiative/mondo/issues/3492 16p11.2 microduplication syndrome 16p11.2-p12.2 microduplication syndrome dup(16)(p11.2p12.2) trisomy 16p11.2p12.2 16p11.2p12.2 microduplication syndrome MONDO:0016835 14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate. https://github.com/monarch-initiative/mondo/issues/3492 dup(14)(q11.2) trisomy 14q11.2 14q11.2 microduplication syndrome MONDO:0016836 16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems. https://github.com/monarch-initiative/mondo/issues/3664 16p13.11 recurrent microdeletion (neurocognitive disorder susceptibility locus) Del(16)(p13.11) monosomy 16p13.11 16p13.11 microdeletion syndrome MONDO:0016837 16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies. https://github.com/monarch-initiative/mondo/issues/3492 16p13.11 recurrent microduplication (neurocognitive disorder susceptibility locus) dup(16)(p13.11) trisomy 16p13.11 16p13.11 microduplication syndrome https://rarediseases.info.nih.gov/diseases/13392/16p1311-microduplication-syndrome MONDO:0016838 16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder. https://github.com/monarch-initiative/mondo/issues/3664 Del(16)(q24.3) monosomy 16q24.3 chromosome 16q24.3 microdeletion syndrome 16q24.3 microdeletion syndrome https://rarediseases.info.nih.gov/diseases/10935/16q243-microdeletion-syndrome MONDO:0016839 Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly. https://github.com/monarch-initiative/mondo/issues/3664 distal del(17)(p13.3) distal monosomy 17p13.3 distal 17p13.3 microdeletion syndrome MONDO:0016840 Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features. dup(17p) trisomy type 17p 17p duplication 17p trisomy Duplication 17p chromosome 17p duplication partial trisomy 17p trisomy 17p MONDO:0016841 20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism. https://github.com/monarch-initiative/mondo/issues/3664 Del(20)(p12.3) monosomy 20p12.3 20p12.3 microdeletion syndrome https://rarediseases.info.nih.gov/diseases/12492/20p123-microdeletion-syndrome MONDO:0016842 Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism. https://github.com/monarch-initiative/mondo/issues/3664 paternal 20q13.2-q13.3 microdeletion syndrome paternal del(20)(q13.2q13.3) paternal monosomy 20q13.2-q13.3 paternal monosomy 20q13.2q13.3 paternal 20q13.2q13.3 microdeletion syndrome MONDO:0016843 20q13.33 is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated. https://github.com/monarch-initiative/mondo/issues/3664 Del(20)(q13.33) monosomy 20q13.33 20q13.33 microdeletion syndrome MONDO:0016844 Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features. Duplication of 20p dup(20p) partial duplication of chromosome 20p partial duplication of the short arm of chromosome 20 partial trisomy of chromosome 20p partial trisomy of the short arm of chromosome 20 trisomy 20p trisomy type 20p 20p duplication 20p trisomy Duplication 20p chromosome 20p duplication partial trisomy 20p trisomy 20p MONDO:0016845 https://github.com/monarch-initiative/mondo/issues/3664 21q22.11-q22.12 microdeletion syndrome Del(21)(q22.11q22.12) monosomy 21q22.11-q22.12 monosomy 21q22.11q22.12 21q22.11q22.12 microdeletion syndrome MONDO:0016846 Distal 22q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, hypotonia, growth retardation, velopharyngeal insufficiency, mild craniofacial dysmorphism (microcephaly, tall/broad forehead, small downslating palpebral fissures, hooded eyelids, flat nasal bridge, low posterior hairline) and digital anomalies. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, behavourial problems and seizures have also been reported. https://github.com/monarch-initiative/mondo/issues/3492 distal dup(22)(q11.2) distal trisomy 22q11.2 distal 22q11.2 microduplication syndrome MONDO:0016847 Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (incl. macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections. Duplication 1q trisomy type 1q trisomy 1q MONDO:0016848 Juvenile temporal arteritis is a rare form of vasculitis, a group of conditions that cause inflammation of the blood vessels. Unlike the classic form of temporal arteritis, this condition is generally diagnosed in late childhood or early adulthood and only affects the temporal arteries (located at the lower sides of the skull, directly underneath the temple). Affected people often have no signs or symptoms aside from a painless nodule or lump in the temporal region. The exact underlying cause of the condition is unknown. It generally occurs sporadically in people with no family history of the condition. Juvenile temporal arteritis is often treated with surgical excision and rarely recurs. JTA non-giant cell granulomatous temporal arteritis with eosinophilia JGCA JPMR juvenile cranial arteritis juvenile giant cell arteritis juvenile polymyalgia rheumatica juvenile temporal arteritis https://rarediseases.info.nih.gov/diseases/3068/juvenile-temporal-arteritis MONDO:0016850 Atypical Norrie disease due to monosomy Xp11.3 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behaviour. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported. https://github.com/monarch-initiative/mondo/issues/3664 atypical Norrie disease due to Xp11.3 microdeletion atypical Norrie disease due to del(X)(p11.3) atypical Norrie disease due to monosomy Xp11.3 MONDO:0016851 UPD(X)mat maternal uniparental disomy of chromosome type X maternal uniparental disomy of chromosome X MONDO:0016852 UPD(X)pat paternal uniparental disomy of chromosome type X paternal uniparental disomy of chromosome X MONDO:0016853 Ring chromosome Y is a rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans. Gender dysphoria and comorbid bipolar disorder have also been observed. Ring chromosome type Y r(Y) Ring chromosome Y syndrome ring chromosome Y MONDO:0016854 49, XXXYY syndrome is a chromosome abnormality that occurs when a male inherits two extra copies of the X chromosome and one extra copy of the Y chromosome. The condition is extremely rare with only a handful of cases reported in the medical literature. Signs and symptoms associated with these cases include severe intellectual disability, distinctive facial features, normal to tall stature, gynecomastia, hypogonadism, and behavioral abnormalities. 49, XXXYY syndrome is likely caused by a mistake (called nondisjunction) that occurs at conception or during the formation of the sperm and/or egg. Treatment is based on the signs and symptoms present in each person. https://github.com/monarch-initiative/mondo/issues/4272 49, XXXYY syndrome XXXYY syndrome 49,XXXYY syndrome https://rarediseases.info.nih.gov/diseases/10922/49-xxxyy-syndrome MONDO:0016855 https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/5588 Hirschsprung disease and intellectual disability due to 2q22 microdeletion Hirschsprung disease and intellectual disability due to del(2)(q22) Hirschsprung disease and intellectual disability due to monosomy 2q22 Mowat-Wilson syndrome due to 2q22 microdeletion Mowat-Wilson syndrome due to del(2)q(22) Mowat-Wilson syndrome due to monosomy type 2q22 Mowat-Wilson syndrome due to monosomy 2q22 MONDO:0016856 Hirschsprung disease and intellectual disability due to a ZEB2 point mutation Mowat-Wilson syndrome due to a ZEB2 point mutation MONDO:0016857 Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES, which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay. https://github.com/monarch-initiative/mondo/issues/3664 blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome MONDO:0016858 Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure. blepharophimosis types 1 and 2 due to a point mutation blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome MONDO:0016859 Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement. blepharophimosis types 1 and 2 due to copy number variations blepharophimosis-epicanthus inversus-ptosis due to a CNV blepharophimosis-epicanthus inversus-ptosis due to copy number variations MONDO:0016860 https://github.com/monarch-initiative/mondo/issues/3664 FAP due to monosomy 5q22.2 colorectal adenomatous polyposis due to monosomy 5q22.2 familial adenomatous polyposis due to del(5)(q22.2) familial adenomatous polyposis due to monosomy 5q22.2 familial polyposis coli due to monosomy 5q22.2 familial adenomatous polyposis due to 5q22.2 microdeletion MONDO:0016861 https://github.com/monarch-initiative/mondo/issues/3664 Alagille syndrome due to del(20)(p12) Alagille syndrome due to monosomy 20p12 Alagille-Watson syndrome due to monosomy 20p12 Arteriohepatic dysplasia due to monosomy 20p12 syndromic bile duct paucity due to monosomy 20p12 Alagille syndrome due to 20p12 microdeletion MONDO:0016862 Alagille syndrome due to a JAG1 point mutation Alagille syndrome type 1 Alagille-Watson syndrome due to a JAG1 point mutation arteriohepatic dysplasia due to a JAG1 point mutation syndromic bile duct paucity due to a JAG1 point mutation ALGS1 Alagille syndrome 1 Alagille-Watson syndrome arteriohepatic dysplasia cholestasis with peripheral pulmonary stenosis hepatic ductular hypoplasia, syndromatic Alagille syndrome due to a JAG1 point mutation MONDO:0016863 https://github.com/monarch-initiative/mondo/issues/3664 Duane-radial ray syndrome due to monosomy 20q13 Okihiro syndrome due to del(20)(q13) Okihiro syndrome due to monosomy 20q13 Okihiro syndrome due to 20q13 microdeletion MONDO:0016864 Duane-radial ray syndrome due to a point mutation Okihiro syndrome due to a point mutation MONDO:0016865 Kleefstra syndrome due to a point mutation MONDO:0016866 https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome type 1 partial monosomy of chromosome 1 partial deletion of chromosome 1 MONDO:0016867 https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome type 2 partial monosomy of chromosome 2 partial deletion of chromosome 2 MONDO:0016868 https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome type 3 partial monosomy of chromosome 3 partial deletion of chromosome 3 MONDO:0016869 https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome type 4 partial monosomy of chromosome 4 partial deletion of chromosome 4 MONDO:0016870 https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome type 5 partial monosomy of chromosome 5 partial deletion of chromosome 5 MONDO:0016871 https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome type 6 partial monosomy of chromosome 6 partial deletion of chromosome 6 MONDO:0016872 https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome type 7 partial monosomy of chromosome 7 partial deletion of chromosome 7 MONDO:0016873 https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome type 8 partial monosomy of chromosome 8 partial deletion of chromosome 8 MONDO:0016874 https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome type 9 partial monosomy of chromosome 9 partial deletion of chromosome 9 MONDO:0016875 https://github.com/monarch-initiative/mondo/issues/3664 partial monosomy of chromosome 10 partial deletion of chromosome 10 MONDO:0016876 https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome type 11 partial monosomy of chromosome 11 partial deletion of chromosome 11 MONDO:0016877 https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome 12q partial deletion of the long arm of chromosome type 12 partial monosomy of chromosome 12q partial monosomy of the long arm of chromosome 12 partial deletion of the long arm of chromosome 12 MONDO:0016878 https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome type 16 partial monosomy of chromosome 16 partial deletion of chromosome 16 MONDO:0016879 https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome type 17 partial monosomy of chromosome 17 partial deletion of chromosome 17 MONDO:0016880 https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome type 18 partial monosomy of chromosome 18 partial deletion of chromosome 18 MONDO:0016881 https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome type 19 partial monosomy of chromosome 19 partial deletion of chromosome 19 MONDO:0016882 https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome type 20 partial monosomy of chromosome 20 partial deletion of chromosome 20 MONDO:0016883 Chromosome 1p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome 1p partial deletion of the short arm of chromosome type 1 partial monosomy of chromosome 1p partial monosomy of the short arm of chromosome 1 1p deletion 1p monosomy chromosome 1p deletion del(1p) deletion 1p loss of chromosome 1p monosomy 1p partial monosomy 1p partial deletion of the short arm of chromosome 1 MONDO:0016884 https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome 2p partial deletion of the short arm of chromosome type 2 partial monosomy of chromosome 2p partial monosomy of the short arm of chromosome 2 partial deletion of the short arm of chromosome 2 MONDO:0016885 https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome 3p partial deletion of the short arm of chromosome type 3 partial monosomy of chromosome 3p partial monosomy of the short arm of chromosome 3 partial deletion of the short arm of chromosome 3 MONDO:0016887 https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome 5p partial deletion of the short arm of chromosome type 5 partial monosomy of chromosome 5p partial monosomy of the short arm of chromosome 5 partial deletion of the short arm of chromosome 5 MONDO:0016888 https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome 6p partial deletion of the short arm of chromosome type 6 partial monosomy of chromosome 6p partial monosomy of the short arm of chromosome 6 partial deletion of the short arm of chromosome 6 MONDO:0016889 Chromosome 7p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome 7p partial deletion of the short arm of chromosome type 7 partial monosomy of chromosome 7p partial monosomy of the short arm of chromosome 7 7p deletion 7p monosomy chromosome 7p deletion deletion 7p monosomy 7p partial monosomy 7p partial deletion of the short arm of chromosome 7 MONDO:0016890 Chromosome 8p deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the short arm (p) of chromosome 8 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Most cases are not inherited, although affected people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome 8p partial deletion of the short arm of chromosome type 8 partial monosomy of chromosome 8p partial monosomy of the short arm of chromosome 8 8p deletion 8p monosomy chromosome 8p deletion deletion 8p monosomy 8p partial monosomy 8p partial deletion of the short arm of chromosome 8 MONDO:0016892 https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome 10p partial deletion of the short arm of chromosome type 10 partial monosomy of chromosome 10p partial monosomy of the short arm of chromosome 10 partial deletion of the short arm of chromosome 10 MONDO:0016893 https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome 11p partial deletion of the short arm of chromosome type 11 partial monosomy of chromosome 11p partial monosomy of the short arm of chromosome 11 partial deletion of the short arm of chromosome 11 MONDO:0016894 https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome 16p partial deletion of the short arm of chromosome type 16 partial monosomy of chromosome 16p partial monosomy of the short arm of chromosome 16 partial deletion of the short arm of chromosome 16 MONDO:0016897 https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome 19p partial deletion of the short arm of chromosome type 19 partial monosomy of chromosome 19p partial monosomy of the short arm of chromosome 19 partial deletion of the short arm of chromosome 19 MONDO:0016898 https://github.com/monarch-initiative/mondo/issues/3664 Pure partial 20p deletion partial deletion of chromosome 20p partial deletion of the short arm of chromosome 20 partial monosomy of chromosome 20p partial monosomy of the short arm of chromosome type 20 20p deletion 20p monosomy chromosome 20p deletion deletion 20p monosomy 20p partial monosomy 20p partial monosomy of the short arm of chromosome 20 MONDO:0016899 Duchenne and Becker muscular dystrophies (DMD and BMD) are neuromuscular diseases characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle. severe dystrophinopathy, Duchenne and Becker type Duchenne and Becker muscular dystrophy MONDO:0016901 Chromosome 2q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 2q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome 2q partial deletion of the long arm of chromosome type 2 partial monosomy of chromosome 2q partial monosomy of the long arm of chromosome 2 2q deletion 2q monosomy chromosome 2q deletion deletion 2q monosomy 2q partial monosomy 2q partial deletion of the long arm of chromosome 2 MONDO:0016902 https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome 3q partial deletion of the long arm of chromosome type 3 partial monosomy of chromosome 3q partial monosomy of the long arm of chromosome 3 partial deletion of the long arm of chromosome 3 MONDO:0016903 Chromosome 4q deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the long arm (q) of chromosome 4 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Common features shared by many people with this deletion includedistinctive craniofacial features, skeletal abnormalities, heart defects, intellectual disability, developmental delay, and short stature. Most cases are not inherited, although affectedpeople can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome 4q partial deletion of the long arm of chromosome type 4 partial monosomy of chromosome 4q partial monosomy of the long arm of chromosome 4 4q deletion 4q monosomy chromosome 4q deletion deletion 4q monosomy 4q partial monosomy 4q partial deletion of the long arm of chromosome 4 MONDO:0016904 https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome 5q partial deletion of the long arm of chromosome type 5 partial monosomy of chromosome 5q partial monosomy of the long arm of chromosome 5 partial deletion of the long arm of chromosome 5 MONDO:0016905 Chromosome 6q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 6q deletion include developmental delay, intellectual disability, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome 6q partial deletion of the long arm of chromosome type 6 partial monosomy of chromosome 6q partial monosomy of the long arm of chromosome 6 6q deletion 6q monosomy chromosome 6q deletion deletion 6q monosomy 6q partial monosomy 6q partial deletion of the long arm of chromosome 6 MONDO:0016906 Chromosome 7q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome 7q partial deletion of the long arm of chromosome type 7 partial monosomy of chromosome 7q partial monosomy of the long arm of chromosome 7 7q deletion 7q monosomy del(7q) deletion 7q loss of chromosome 7q monosomy 7q partial monosomy 7q partial deletion of the long arm of chromosome 7 MONDO:0016907 Chromosome 8q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 8q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome 8q partial deletion of the long arm of chromosome type 8 partial monosomy of chromosome 8q partial monosomy of the long arm of chromosome 8 8q deletion 8q monosomy chromosome 8q deletion deletion 8q monosomy 8q partial monosomy 8q partial deletion of the long arm of chromosome 8 MONDO:0016908 https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome 9q partial deletion of the long arm of chromosome 9 partial monosomy of chromosome 9q partial monosomy of the long arm of chromosome type 9 partial monosomy of the long arm of chromosome 9 MONDO:0016909 https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome 10q partial deletion of the long arm of chromosome 10 partial monosomy of chromosome 10q partial monosomy of the long arm of chromosome type 10 partial monosomy of the long arm of chromosome 10 MONDO:0016910 A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 11. https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome 11q partial deletion of the long arm of chromosome type 11 partial monosomy of chromosome 11q partial monosomy of the long arm of chromosome 11 11q deletion 11q monosomy Deletion 11q partial chromosome 11q deletion chromosome 11q partial deletion del(11q) deletion 11q loss of chromosome 11q monosomy 11q monosomy 11q partial partial monosomy 11q partial deletion of the long arm of chromosome 11 MONDO:0016911 A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 13. https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome 13q partial deletion of the long arm of chromosome type 13 partial monosomy of chromosome 13q partial monosomy of the long arm of chromosome 13 13q deletion 13q monosomy chromosome 13q deletion del(13q) deletion 13q loss of chromosome 13q monosomy 13q partial deletion of the long arm of chromosome 13 MONDO:0016912 Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 14. https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome 14q partial deletion of the long arm of chromosome type 14 partial monosomy of chromosome 14q partial monosomy of the long arm of chromosome 14 14q deletion 14q monosomy chromosome 14q deletion deletion 14q monosomy 14q partial monosomy 14q partial deletion of the long arm of chromosome 14 MONDO:0016913 https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome 15q partial deletion of the long arm of chromosome type 15 partial monosomy of chromosome 15q partial monosomy of the long arm of chromosome 15 15q deletion 15q monosomy chromosome 15q deletion deletion 15q monosomy 15q partial monosomy 15q partial deletion of the long arm of chromosome 15 MONDO:0016914 https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome 16q partial deletion of the long arm of chromosome type 16 partial monosomy of chromosome 16q partial monosomy of the long arm of chromosome 16 partial deletion of the long arm of chromosome 16 MONDO:0016915 https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome 17q partial deletion of the long arm of chromosome type 17 partial monosomy of chromosome 17q partial monosomy of the long arm of chromosome 17 partial deletion of the long arm of chromosome 17 MONDO:0016917 https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome 19q partial deletion of the long arm of chromosome type 19 partial monosomy of chromosome 19q partial monosomy of the long arm of chromosome 19 partial deletion of the long arm of chromosome 19 MONDO:0016918 https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome 20q partial deletion of the long arm of chromosome type 20 partial monosomy of chromosome 20q partial monosomy of the long arm of chromosome 20 partial deletion of the long arm of chromosome 20 MONDO:0016919 partial deletion of chromosome 21q partial deletion of the long arm of chromosome type 21 partial monosomy of chromosome 21q partial monosomy of the long arm of chromosome 21 partial deletion of the long arm of chromosome 21 MONDO:0016921 https://github.com/monarch-initiative/mondo/issues/3492 partial duplication of chromosome type 1 partial trisomy of chromosome 1 partial duplication of chromosome 1 MONDO:0016922 https://github.com/monarch-initiative/mondo/issues/3492 partial duplication of chromosome type 2 partial trisomy of chromosome 2 partial duplication of chromosome 2 MONDO:0016923 https://github.com/monarch-initiative/mondo/issues/3492 partial duplication of chromosome type 3 partial trisomy of chromosome 3 partial duplication of chromosome 3 MONDO:0016924 https://github.com/monarch-initiative/mondo/issues/3492 partial duplication of chromosome type 4 partial trisomy of chromosome 4 partial duplication of chromosome 4 MONDO:0016925 partial duplication/triplication of chromosome 5 partial trisomy/tetrasomy of chromosome type 5 partial trisomy/tetrasomy of chromosome 5 MONDO:0016927 https://github.com/monarch-initiative/mondo/issues/3492 partial duplication of chromosome type 6 partial trisomy of chromosome 6 partial duplication of chromosome 6 MONDO:0016928 https://github.com/monarch-initiative/mondo/issues/3492 partial duplication of chromosome type 7 partial trisomy of chromosome 7 partial duplication of chromosome 7 MONDO:0016929 https://github.com/monarch-initiative/mondo/issues/3492 partial duplication of chromosome type 8 partial trisomy of chromosome 8 partial duplication of chromosome 8 MONDO:0016930 partial duplication/triplication of chromosome 9 partial trisomy/tetrasomy of chromosome type 9 partial trisomy/tetrasomy of chromosome 9 MONDO:0016931 https://github.com/monarch-initiative/mondo/issues/3492 partial trisomy of chromosome 10 partial duplication of chromosome 10 MONDO:0016932 https://github.com/monarch-initiative/mondo/issues/3492 partial duplication of chromosome type 11 partial trisomy of chromosome 11 partial duplication of chromosome 11 MONDO:0016933 partial duplication/triplication of chromosome 12p partial duplication/triplication of the short arm of chromosome 12 partial trisomy/tetrasomy of chromosome 12p partial trisomy/tetrasomy of the short arm of chromosome type 12 partial trisomy/tetrasomy of the short arm of chromosome 12 MONDO:0016934 https://github.com/monarch-initiative/mondo/issues/3492 partial duplication of chromosome type 16 partial trisomy of chromosome 16 partial duplication of chromosome 16 MONDO:0016935 https://github.com/monarch-initiative/mondo/issues/3492 partial duplication of chromosome type 17 partial trisomy of chromosome 17 partial duplication of chromosome 17 MONDO:0016936 A chromosomal disorder characterized by the presence of extra copy/copies of part of chromosome 18. partial duplication/triplication of chromosome 18 partial trisomy/tetrasomy of chromosome type 18 partial trisomy/tetrasomy of chromosome 18 MONDO:0016937 https://github.com/monarch-initiative/mondo/issues/3492 partial duplication of chromosome type 19 partial trisomy of chromosome 19 partial duplication of chromosome 19 MONDO:0016938 https://github.com/monarch-initiative/mondo/issues/3492 partial duplication of chromosome 20 partial trisomy of chromosome type 20 partial trisomy of chromosome 20 MONDO:0016939 Chromosome 2p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. https://github.com/monarch-initiative/mondo/issues/3492 partial duplication of chromosome 2p partial duplication of the short arm of chromosome type 2 partial trisomy of chromosome 2p 2p duplication 2p trisomy Duplication 2p chromosome 2p duplication partial trisomy 2p trisomy 2p partial duplication of the short arm of chromosome 2 MONDO:0016940 Chromosome 3p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 3. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 3p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3p duplication can be de novo or inherited from a parent with a balanced translocation. Treatment is based on the signs and symptoms present in each person. https://github.com/monarch-initiative/mondo/issues/3492 partial duplication of chromosome 3p partial duplication of the short arm of chromosome type 3 partial trisomy of chromosome 3p partial trisomy of the short arm of chromosome 3 3p duplication 3p trisomy Duplication 3p chromosome 3p duplication partial trisomy 3p trisomy 3p partial duplication of the short arm of chromosome 3 MONDO:0016941 https://github.com/monarch-initiative/mondo/issues/3492 partial duplication of chromosome 4p partial duplication of the short arm of chromosome type 4 partial trisomy of chromosome 4p partial trisomy of the short arm of chromosome 4 partial duplication of the short arm of chromosome 4 MONDO:0016942 partial duplication/triplication of chromosome 5p partial duplication/triplication of the short arm of chromosome 5 partial trisomy/tetrasomy of chromosome 5p partial trisomy/tetrasomy of the short arm of chromosome type 5 partial trisomy/tetrasomy of the short arm of chromosome 5 MONDO:0016943 Chromosome 6p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 6p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. This condition can occur sporadically or be inherited from aparent who is either mildy affected (has the deletion) or carries a balanced translocation. Treatment is based on the signs and symptoms present in each person. https://github.com/monarch-initiative/mondo/issues/3492 partial duplication of chromosome 6p partial duplication of the short arm of chromosome type 6 partial trisomy of chromosome 6p partial trisomy of the short arm of chromosome 6 6p duplication 6p trisomy Duplication 6p chromosome 6p duplication partial trisomy 6p trisomy 6p partial duplication of the short arm of chromosome 6 MONDO:0016944 Chromosome 7p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. https://github.com/monarch-initiative/mondo/issues/3492 partial duplication of chromosome 7p partial duplication of the short arm of chromosome type 7 partial trisomy of chromosome 7p partial trisomy of the short arm of chromosome 7 7p duplication 7p trisomy Duplication 7p chromosome 7p duplication partial trisomy 7p trisomy 7p partial duplication of the short arm of chromosome 7 MONDO:0016945 Chromosome 8p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 8p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. https://github.com/monarch-initiative/mondo/issues/3492 partial duplication of chromosome 8p partial duplication of the short arm of chromosome type 8 partial trisomy of chromosome 8p partial trisomy of the short arm of chromosome 8 8p duplication 8p trisomy Duplication 8p chromosome 8p duplication partial trisomy 8p trisomy 8p partial duplication of the short arm of chromosome 8 MONDO:0016947 https://github.com/monarch-initiative/mondo/issues/3492 partial duplication of chromosome 10p partial trisomy of chromosome 10p partial trisomy of the short arm of chromosome 10 partial duplication of the short arm of chromosome 10 MONDO:0016948 https://github.com/monarch-initiative/mondo/issues/3492 partial duplication of chromosome 11p partial duplication of the short arm of chromosome type 11 partial trisomy of chromosome 11p partial trisomy of the short arm of chromosome 11 partial duplication of the short arm of chromosome 11 MONDO:0016949 Chromosome 16p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 16. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 16p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. https://github.com/monarch-initiative/mondo/issues/3492 partial duplication of chromosome 16p partial duplication of the short arm of chromosome type 16 partial trisomy of chromosome 16p partial trisomy of the short arm of chromosome 16 16p duplication 16p trisomy Duplication 16p chromosome 16p duplication partial trisomy 16p trisomy 16p partial duplication of the short arm of chromosome 16 MONDO:0016950 https://github.com/monarch-initiative/mondo/issues/3492 partial duplication of chromosome 17p partial duplication of the short arm of chromosome type 17 partial trisomy of chromosome 17p partial trisomy of the short arm of chromosome 17 partial duplication of the short arm of chromosome 17 MONDO:0016951 partial duplication/triplication of chromosome 18p partial duplication/triplication of the short arm of chromosome 18 partial trisomy/tetrasomy of chromosome 18p partial trisomy/tetrasomy of the short arm of chromosome type 18 partial trisomy/tetrasomy of the short arm of chromosome 18 MONDO:0016952 https://github.com/monarch-initiative/mondo/issues/3492 partial duplication of chromosome 1q partial duplication of the long arm of chromosome type 1 partial trisomy of chromosome 1q partial trisomy of the long arm of chromosome 1 1q duplications partial trisomy 1q partial duplication of the long arm of chromosome 1 MONDO:0016953 Chromosome 2q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. https://github.com/monarch-initiative/mondo/issues/3492 partial duplication of chromosome 2q partial duplication of the long arm of chromosome type 2 partial trisomy of chromosome 2q partial trisomy of the long arm of chromosome 2 2q duplication 2q trisomy Duplication 2q chromosome 2q duplication partial trisomy 2q trisomy 2q partial duplication of the long arm of chromosome 2 MONDO:0016954 Chromosome 3q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on thelong arm (q) of chromosome 3. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 3q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person. https://github.com/monarch-initiative/mondo/issues/3492 partial duplication of chromosome 3q partial duplication of the long arm of chromosome type 3 partial trisomy of chromosome 3q Duplication 3q chromosome 3, trisomy 3q chromosome 3q duplication trisomy 3q partial duplication of the long arm of chromosome 3 MONDO:0016955 Chromosome 4q duplication is a chromosome abnormality characterized by an extra copy (duplication) of genetic material on the long arm (q) of chromosome 4. The severity and specific symptoms depend on the size and location of the duplication, and which genes are involved. Features that have been described in some people with chromosome 4q duplication include developmental delay, intellectual disability, behavioral problems, birth defects, and distinctive facial features. Most cases are inherited from an unaffected parent with a chromosomal rearrangement called a balanced translocation. Some cases are not inherited and occur sporadically. Treatment is based on the signs and symptoms present in each person. https://github.com/monarch-initiative/mondo/issues/3492 Duplication 4q syndrome, partial chromosome 4, partial trisomy 4q distal 4q trisomy dup(4q) syndrome, partial partial duplication of chromosome 4q partial duplication of the long arm of chromosome type 4 partial trisomy 4q syndrome partial trisomy of chromosome 4q partial trisomy of the long arm of chromosome 4 4q duplication 4q trisomy Duplication 4q chromosome 4q duplication partial trisomy 4q partial trisomy distal 4q trisomy 4q partial duplication of the long arm of chromosome 4 MONDO:0016956 Chromosome 5q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 5. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 5q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 5q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person. https://github.com/monarch-initiative/mondo/issues/3492 partial duplication of chromosome 5q partial duplication of the long arm of chromosome 5 partial trisomy of chromosome 5q partial trisomy of the long arm of chromosome type 5 5q duplication 5q trisomy Duplication 5q chromosome 5q duplication partial trisomy 5q trisomy 5q partial trisomy of the long arm of chromosome 5 MONDO:0016957 Chromosome 6q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 6q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. In most cases, chromosome 6q duplication occurs de novo or is inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Rarely, it is inherited from a parent with the same duplication. Treatment is based on the signs and symptoms present in each person. https://github.com/monarch-initiative/mondo/issues/3492 partial duplication of chromosome 6q partial duplication of the long arm of chromosome type 6 partial trisomy of chromosome 6q partial trisomy of the long arm of chromosome 6 6q duplication 6q trisomy Duplication 6q chromosome 6q duplication partial trisomy 6q trisomy 6q partial duplication of the long arm of chromosome 6 MONDO:0016958 Chromosome 7q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. https://github.com/monarch-initiative/mondo/issues/3492 partial duplication of chromosome 7q partial duplication of the long arm of chromosome type 7 partial trisomy of chromosome 7q partial trisomy of the long arm of chromosome 7 7q duplication 7q trisomy Duplication 7q chromosome 7q duplication partial trisomy 7q trisomy 7q partial duplication of the long arm of chromosome 7 MONDO:0016959 https://github.com/monarch-initiative/mondo/issues/3492 partial duplication of chromosome 8q partial duplication of the long arm of chromosome type 8 partial trisomy of chromosome 8q partial trisomy of the long arm of chromosome 8 partial duplication of the long arm of chromosome 8 MONDO:0016960 https://github.com/monarch-initiative/mondo/issues/3492 partial duplication of chromosome 9q partial duplication of the long arm of chromosome 9 partial trisomy of chromosome 9q partial trisomy of the long arm of chromosome type 9 partial trisomy of the long arm of chromosome 9 MONDO:0016961 https://github.com/monarch-initiative/mondo/issues/3492 partial duplication of chromosome 10q partial trisomy of chromosome 10q partial trisomy of the long arm of chromosome 10 partial duplication of the long arm of chromosome 10 MONDO:0016964 https://github.com/monarch-initiative/mondo/issues/3492 partial duplication of chromosome 14q partial duplication of the long arm of chromosome type 14 partial trisomy of chromosome 14q partial trisomy of the long arm of chromosome 14 14q duplication 14q trisomy Duplication 14q chromosome 14q duplication partial trisomy 14q trisomy 14q partial duplication of the long arm of chromosome 14 MONDO:0016965 Chromosome 15q duplication is a chromosome abnormality that occurs when an extra (duplicate) copy of the genetic material located on the long arm (q) of chromosome 15 is present in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the duplication and which genes are involved. Common features shared by many people with this duplication include developmental delay; intellectual disability; hypotonia (low muscle tone); seizures ; high and/or cleft palate (roof of the mouth); scoliosis ; slow growth; communication difficulties; behavioral problems; and distinctive facial features. Most cases are not inherited, although affected people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. https://github.com/monarch-initiative/mondo/issues/3492 partial duplication of chromosome 15q partial duplication of the long arm of chromosome type 15 partial trisomy of chromosome 15q partial trisomy of the long arm of chromosome 15 15q duplication 15q trisomy Duplication 15q chromosome 15q duplication partial trisomy 15q trisomy 15q partial duplication of the long arm of chromosome 15 MONDO:0016966 https://github.com/monarch-initiative/mondo/issues/3492 partial duplication of chromosome 16q partial duplication of the long arm of chromosome 16 partial trisomy of chromosome 16q partial trisomy of the long arm of chromosome type 16 16q duplication 16q trisomy Duplication 16q chromosome 16q duplication partial trisomy 16q trisomy 16q partial trisomy of the long arm of chromosome 16 MONDO:0016967 https://github.com/monarch-initiative/mondo/issues/3492 partial duplication of chromosome 17q partial duplication of the long arm of chromosome type 17 partial trisomy of chromosome 17q partial trisomy of the long arm of chromosome 17 17q duplication 17q trisomy Duplication 17q chromosome 17q duplication partial trisomy 17q trisomy 17q partial duplication of the long arm of chromosome 17 MONDO:0016968 https://github.com/monarch-initiative/mondo/issues/3492 partial duplication of chromosome 18q partial duplication of the long arm of chromosome 18 partial trisomy of chromosome 18q partial trisomy of the long arm of chromosome type 18 18q duplication 18q partial trisomy 18q trisomy Duplication 18q chromosome 18q duplication trisomy 18q partial trisomy of the long arm of chromosome 18 MONDO:0016969 https://github.com/monarch-initiative/mondo/issues/3492 partial duplication of chromosome 19q partial duplication of the long arm of chromosome type 19 partial trisomy of chromosome 19q partial trisomy of the long arm of chromosome 19 19q duplication 19q trisomy Duplication 19q chromosome 19q duplication partial trisomy 19q trisomy 19q partial duplication of the long arm of chromosome 19 MONDO:0016970 https://github.com/monarch-initiative/mondo/issues/3492 partial duplication of chromosome 20q partial duplication of the long arm of chromosome 20 partial trisomy of chromosome 20q partial trisomy of the long arm of chromosome type 20 partial trisomy of the long arm of chromosome 20 MONDO:0016971 Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD. LGMD Leyden-Mbius muscular dystrophy Leyden-Mobius muscular dystrophy erb's muscular dystrophy limb girdle muscular dystrophy limb-girdle muscular dystrophy limb-girdle muscular dystrophy https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy MONDO:0016972 https://github.com/monarch-initiative/mondo/issues/3492 partial duplication of chromosome 22q partial duplication of the long arm of chromosome type 22 partial trisomy of chromosome 22q partial trisomy of the long arm of chromosome 22 partial duplication of the long arm of chromosome 22 MONDO:0016974 An epithelial neoplasm arising from the thymus. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It includes thymoma type B1 which is a thymoma of low grade malignant potential, thymoma type B2 which is a thymoma of moderate malignancy, and thymoma type B3 which is also known as well differentiated thymic carcinoma. Dendritic cell thymoma dendritic cell thymoma dendritic cell thymoma (disease) epithelioid thymoma plump cell thymoma primary thymic epithelial neoplasm type B primary thymic epithelial tumor type B thymoma type B thymoma type B MONDO:0016975 A thymic epithelial neoplasm characterized by the presence of a lymphocyte-poor component similar to that seen in type A thymoma and a lymphocyte-rich component which contains neoplastic small polygonal epithelial cells. It may be associated with myasthenia gravis and pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II or stage III tumors. The overall survival is reported to be 80-100% at 5 and 10 years. mixed type thymoma primary thymic epithelial neoplasm type AB primary thymic epithelial tumor type AB thymoma type AB thymoma, mixed type thymoma type AB MONDO:0016976 well-differentiated thymic neuroendocrine carcinoma MONDO:0016977 moderately-differentiated thymic neuroendocrine carcinoma MONDO:0016978 poorly differentiated thymic neuroendocrine carcinoma MONDO:0016979 MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400. microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome MRCS syndrome MONDO:0016980 https://github.com/monarch-initiative/mondo/issues/5588 ATR-X-related syndrome ATR-X-related syndrome MONDO:0016981 https://github.com/monarch-initiative/mondo/issues/5588 infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome MONDO:0016982 A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma. angiosarcoma (disease) angiosarcoma angiosarcoma (disease) blood vessel sarcoma hemangiosarcoma hemangiosarcoma, malignant malignant angioendothelioma malignant hemangioendothelioma sarcoma of blood vessel vascular sarcoma angiosarcoma MONDO:0016983 Bartter syndrome with hypocalcemia is a type of Bartter syndrome characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH) Bartter syndrome type 5 Bartter syndrome type V Bartter syndrome with hypocalcemia MONDO:0016984 Nevus of Ota is an oculodermal melanocytosis more commonly found in Asian and African populations, usually present at birth and characterized by a usually unilateral, bluish gray, patchy, speckled pigmentation (that may progressively enlarge and darken) affecting the skin of the face along the distribution of the ophthalmic and maxillary divisions of the trigeminal nerve (periorbital region, temple, forehead, malar area, nose). In 2/3 cases the ipsilateral sclera is affected. Nevus of Ota usually remains stable once adulthood is reached but an increased risk of glaucoma and uveal melanoma may be observed. Extracutaneous lesions may also occur in cornea, retina, tympanum, nasal mucosa, pharynx, palate. Nevus of Ota occurs as solitary conditions but seldom may occur together with the nevus of Ito or nevus spilus. Nevus fusculoceruleus ophthalmomaxillaris Ota's Nevus oculocutaneous melanocytic Nevus oculodermal melanocytosis nevus of Ota MONDO:0016985 Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and may in rare occasions occur together with the latter. Ito's Nevus nevi of Ito nevus fuscocaeruleus acromiodeltoideus hypomelanosis of Ito nevus of Ito MONDO:0016986 Congenital smooth muscle hamartoma (CSMH) is a rare cutaneous hamartomatous lesion most often located on the lumbosacral area or proximal limbs (but rarely on atypical areas such as scalp, eyelid or foot) and characterized by a disorganized proliferation of smooth muscle fibres of arrector pili presenting usually as a localized skin-colored or hyperpigmented plaque (up to 10 cm in diameter) with prominent vellus hairs (most common classic form) or less commonly by multiple skin-colored papules that can coalesce to form irregularly shaped plaques. With time, hyperpigmentation and vellus hairs usually diminish and neither malignant transformation nor associated systemic involvement has been reported. https://github.com/monarch-initiative/mondo/issues/4069 congenital smooth muscle hamartoma MONDO:0016987 Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia. neuroacanthocytosis syndrome neuroacanthocytosis MONDO:0016988 Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1). hyperinsulinemic hypoglycemia due to HNF4A deficiency hyperinsulinism due to HNF4A deficiency MONDO:0016989 Fuchs heterochromic iridocyclitis (FHI) is an ocular disease of unknown etiology occurring in a very small percentage (0.5-6.2%) of uvietis cases, characterized by diffuse iris heterochromia or atrophy, keratic precipitates in the absence of synechiae, and in some cases evolving to glaucoma and vitreous opacities. https://github.com/monarch-initiative/mondo/issues/4223 FHI Fuch's heterochromic iridocyclitis Fuchs heterochromic cyclitis Fuchs heterochromic uveitis Fuchs uveitis syndrome Fuchs' heterochromic cyclitis Fuchs' heterochromic uveitis Fuchs heterochromic iridocyclitis MONDO:0016990 An instance of prothrombin deficiency that is acquired during the lifetime of the individual. acquired hypoprothrombinemia acquired prothrombin deficiency acquired factor II deficiency hypoprothrombinemia, acquired acquired prothrombin deficiency MONDO:0016991 Acute necrotizing encephalopathy of childhood is a rare neurologic disease characterized by a rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointesitnal infection (e.g. mycoplasma, influenza virus) in a previously healthy child. Brain MRI of patients reveals bilateral, multiple, symmetrical lesions predominantly observed in thalami and brainstem, but also in periventricular white matter and cerebellum in some cases. ANEC isolated ANE isolated acute necrotizing encephalopathy acute necrotizing encephalopathy of childhood MONDO:0016993 generalized deciduous skin type C peeling skin syndrome type C generalized peeling skin syndrome type C MONDO:0016994 Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome. MOPD types I and III Taybi-Linder syndrome microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type primordial microcephalic dwarfism, Crachami type Brachymelic primordial dwarfism Cephaloskeletal dysplasia MOPD 1 low-birth-weight dwarfism with skeletal dysplasia microcephalic osteodysplastic primordial dwarfism type 1 microcephalic osteodysplastic primordial dwarfism types 1 and 3 osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism types I and III https://rarediseases.info.nih.gov/diseases/5120/microcephalic-osteodysplastic-primordial-dwarfism-type-1 MONDO:0016995 Familial multiple meningioma is a rare, benign neoplasm of the central nervous system characterized by the development of multiple or, rarely, solitary meningiomas in two or more blood relatives, without other apparent syndromic manifestations. Depending on the localization, growth rate and size of the tumors, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic. familial multiple meningioma MONDO:0016996 Natural killer (NK)-cell enteropathy is a benign NK-cell lymphoproliferative disease characterized by minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma. Editor note: TODO - complete axioms NK-cell enteropathy MONDO:0017003 https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome type X partial monosomy of chromosome X partial deletion of chromosome X MONDO:0017004 https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome Xp partial deletion of the short arm of chromosome X partial monosomy of chromosome Xp partial monosomy of the short arm of chromosome type X partial monosomy of the short arm of chromosome X MONDO:0017007 https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome Xq partial deletion of the long arm of chromosome type X partial monosomy of chromosome Xq partial monosomy of the long arm of chromosome X partial deletion of the long arm of chromosome X MONDO:0017008 https://github.com/monarch-initiative/mondo/issues/3492 partial duplication of chromosome type X partial trisomy of chromosome X partial duplication of chromosome X MONDO:0017009 https://github.com/monarch-initiative/mondo/issues/3492 partial duplication of chromosome Xp partial duplication of the short arm of chromosome type X partial trisomy of chromosome Xp partial trisomy of the short arm of chromosome X partial duplication of the short arm of chromosome X MONDO:0017010 Chromosome Xq duplication is a chromosome abnormality that affects many different parts of the body. People with this condition have an extra copy of the genetic material located on the long arm (q) of the X chromosome in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of theduplication;the genes involved; and the sex of the affected person. In general, males are typically more severely affected than females and often experience intellectual disability, developmental delay, short stature, abnormalities of the reproductive organs, anddistinctive craniofacial features. Many females with this duplication do not have any symptoms or are only affected with short stature; however, some may be just as severely affected as males with the condition. Most cases are inherited in an X-linked manner, often from a mother with no signs or symptoms of the condition. Treatment is based on the signs and symptoms present in each person. https://github.com/monarch-initiative/mondo/issues/3492 partial duplication of chromosome Xq partial duplication of the long arm of chromosome type X partial trisomy of chromosome Xq partial trisomy of the long arm of chromosome X Duplication Xq Xq duplication Xq trisomy chromosome Xq duplication partial trisomy Xq trisomy Xq partial duplication of the long arm of chromosome X MONDO:0017012 https://github.com/monarch-initiative/mondo/issues/3492 partial duplication of chromosome 1p partial duplication of the short arm of chromosome type 1 partial trisomy of chromosome 1p partial duplication of the short arm of chromosome 1 MONDO:0017013 Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported. Duplication 8p trisomy type 8p trisomy 8p MONDO:0017014 A interstitial lung disease that occurs during childhood. https://github.com/monarch-initiative/mondo/issues/4389 ILD specific to childhood chILD chILD syndrome childhood interstitial lung disease interstitial lung disease of childhood pediatric interstitial lung disease The terms chILD or chILD syndrome (not preferred) have been coined to memorize easily and to identify a phenotype that requires prompt and expert evaluation. interstitial lung disease specific to childhood MONDO:0017015 primary ILD specific to childhood primary interstitial lung disease specific to childhood child children's interstitial lung disease primary interstitial lung disease specific to childhood https://rarediseases.info.nih.gov/diseases/10559/childrens-interstitial-lung-disease MONDO:0017018 Isolated pauciimmune pulmonary capillaritis is a small vessel vasculitis restricted to the lungs that may induce diffuse alveolar hemorrhage with dyspnea, anemia, chest pain, hemoptysis, bilateral and diffuse alveolar infiltrates at chest X-rays, without any underlying systemic disease. ANCA are frequently positive but could be negative. isolated pulmonary capillaritis MONDO:0017019 ILD specific to infancy interstitial lung disease specific to infancy MONDO:0017025 Langerhans cell histiocytosis that occurs during childhood. Langerhans cell histiocytosis Langerhans cell granulomatosis specific to childhood childhood Langerhans cell histiocytosis histiocytosis X specific to childhood Langerhans cell histiocytosis specific to childhood MONDO:0017026 ILD specific to adulthood interstitial lung disease specific to adulthood MONDO:0017027 primary ILD specific to adulthood primary interstitial lung disease specific to adulthood MONDO:0017029 Langerhans cell histiocytosis that occurs during adulthood. Langerhans cell histiocytosis Langerhans cell granulomatosis specific to adulthood adult Langerhans cell histiocytosis histiocytosis X specific to adulthood Langerhans cell histiocytosis specific to adulthood MONDO:0017030 https://github.com/monarch-initiative/mondo/issues/5114 2022-09-01 ILD in childhood and adulthood Reason: out of scope. MONDO:excludeGroupingClass. Term to consider:MONDO:0015925 interstitial lung disease interstitial lung disease in childhood and adulthood MONDO:0017031 https://github.com/monarch-initiative/mondo/issues/5114 2022-09-01 primary ILD in childhood and adulthood Reason: out of scope. MONDO:excludeGroupingClass. Term to consider:MONDO:0015925 interstitial lung disease primary interstitial lung disease in childhood and adulthood MONDO:0017034 https://github.com/monarch-initiative/mondo/issues/5114 2022-09-01 secondary ILD in childhood and adulthood Reason: out of scope. MONDO:excludeGroupingClass. Term to consider:MONDO:0015925 interstitial lung disease secondary interstitial lung disease in childhood and adulthood MONDO:0017036 Langerhans cell granulomatosis in childhood and adulthood histiocytosis X in childhood and adulthood Editor note: check semantics Langerhans cell histiocytosis in childhood and adulthood MONDO:0017039 drug or radiation exposure-related interstitial lung disease MONDO:0017040 https://github.com/monarch-initiative/mondo/issues/5114 2022-09-01 Reason: out of scope. MONDO:excludeGroupingClass. Term to consider:MONDO:0015925 interstitial lung disease exposure-related interstitial lung disease MONDO:0017041 Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome is characterized by severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa. Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head. It has been described in two patients. Transmission is autosomal dominant variable penetrance. Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome MONDO:0017042 Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape. Td thanatophoric dwarfism dwarfism thanatophoric thanatophoric dysplasia MONDO:0017043 A low grade childhood congenital malignant neoplasm arising from the kidney. It is characterized by the presence of fibroblastic cells. The majority of cases occur in the first year of life. Complete excision is usually associated with an excellent prognosis. https://github.com/monarch-initiative/mondo/issues/4069 mesoblastic nephroma CMn congenital mesoblastic nephroma stromal nephroma, malignant congenital mesoblastic nephroma https://rarediseases.info.nih.gov/diseases/1493/congenital-mesoblastic-nephroma MONDO:0017044 This syndrome, associating familial adult medullary cystic disease with spastic quadriparesis has been described in two cases so far. Renal transplantation was successful in those two patients. adult familial nephronophthisis-spastic quadriparesia syndrome MONDO:0017045 Neuroectodermal-endocrine syndrome is characterised by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar. https://github.com/monarch-initiative/mondo/issues/5588 Oerter-Friedman-Anderson syndrome neuroectodermal endocrine syndrome neuroectodermal-endocrine syndrome https://rarediseases.info.nih.gov/diseases/3959/neuroectodermal-endocrine-syndrome MONDO:0017046 Peripheral neuroepithelioma is a rare noncentral nervous system tumor with evidence of primitive neuroectodermal differentiation. Editor note: see also MONDO:0005462 and MONDO:0021193 neuroepithelioma https://rarediseases.info.nih.gov/diseases/3963/neuroepithelioma MONDO:0017047 infantile axonal neuropathy https://rarediseases.info.nih.gov/diseases/2996/infantile-axonal-neuropathy MONDO:0017048 Pseudomyxoma peritonei is characterized by disseminated intra-peritoneal mucinous tumors and mucinous ascites in the abdomen and pelvis. Adenomucinosis Myxoma peritonei PMP gelatinous ascites mucinous ascites peritoneal cavity pseudomyxoma peritonei pseudomyxoma peritonei pseudomyxoma peritonei (morphologic abnormality) well differentiated peritoneal mucinous adenocarcinoma syndrome of pseudomyxoma peritonei pseudomyxoma peritonei MONDO:0017049 Hypomyelination neuropathy-arthrogryposis syndrome is a rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (incl. talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo- or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities (<10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons. Boylan-dew syndrome hypomyelination neuropathy-arthrogryposis syndrome MONDO:0017050 Intraocular medulloepithelioma is a rare eye tumor characterized by a white, gray or yellow-colored cystic mass that arises from the primitive neuroectodermal, nonpigmented epithelium of the ciliary body, or occasionally from the optic nerve, optic disc, retina or iris. Typically it has a benign clinical course with good prognosis and generally presents with childhood onset of poor vision and pain, glaucoma, and/or cataract. Leukocoria, exotropia, exophthalmos, strabismus, epiphora, change in eye color, hyphema, and raised intraocular pressure are also remarkable manifestations. intraocular medulloepithelioma orbital medulloepithelioma intraocular medulloepithelioma MONDO:0017051 Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated. https://github.com/monarch-initiative/mondo/issues/4985 classic BCKD deficiency classic MSUD classic branched-chain 2-ketoacid dehydrogenase deficiency classic branched-chain alpha-ketoacid dehydrogenase deficiency classic branched-chain ketoaciduria classic maple syrup urine disease classic maple syrup urine disease MONDO:0017052 Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation. https://github.com/monarch-initiative/mondo/issues/4985 Intermediate BCKD deficiency Intermediate MSUD Intermediate branched-chain 2-ketoacid dehydrogenase deficiency Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency intermediate maple syrup urine disease intermediate maple syrup urine disease MONDO:0017053 Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated. https://github.com/monarch-initiative/mondo/issues/4985 intermittent BCKD deficiency intermittent MSUD intermittent branched-chain 2-ketoacid dehydrogenase deficiency intermittent branched-chain alpha-ketoacid dehydrogenase deficiency intermittent maple syrup urine disease intermittent maple syrup urine disease MONDO:0017054 Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD but that responds positively to treatment with thiamine. https://github.com/monarch-initiative/mondo/issues/4985 thiamine-responsive BCKD deficiency thiamine-responsive MSUD thiamine-responsive branched-chain 2-ketoacid dehydrogenase deficiency thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency thiamine-responsive maple syrup urine disease thiamine-responsive maple syrup urine disease MONDO:0017055 Mycophenolate mofetil (MMF) embryopathy is a malformative syndrome due to the teratogenic effect of MMF, an effective immunosuppressive agent widely used for the prevention of organ rejection after organ transplantation. MMF embryopathy mycophenolate mofetil embryopathy MONDO:0017056 https://github.com/monarch-initiative/mondo/issues/3664 21q22.13-q22.2 microdeletion syndrome 21q22.13q22.2 microdeletion syndrome Del(21)(q22.13q22.2) monosomy 21q22.13-q22.2 monosomy 21q22.13q22.2 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion MONDO:0017057 hereditary thrombocytopenia with normal platelets MONDO:0017058 Autosomal recessive form of intermediate Charcot-Marie-Tooth disease. RI-CMT autosomal recessive intermediate Charcot-Marie-Tooth disease intermediate Charcot-Marie-Tooth disease, autosomal recessive autosomal recessive intermediate Charcot-Marie-Tooth disease https://rarediseases.info.nih.gov/diseases/12452/autosomal-recessive-intermediate-charcot-marie-tooth-disease MONDO:0017059 A disease that has its basis in the disruption of neural tube closure. disorder of neural tube closure neural tube closure disease neural tube closure defect MONDO:0017060 open iniencephaly MONDO:0017061 closed iniencephaly MONDO:0017062 spina bifida aperta MONDO:0017063 total spina bifida aperta MONDO:0017064 thoracolumbosacral spina bifida aperta MONDO:0017065 lumbosacral spina bifida aperta MONDO:0017066 cervical spina bifida aperta MONDO:0017067 cervicothoracic spina bifida aperta MONDO:0017068 upper thoracic spina bifida aperta MONDO:0017069 A congenital abnormality in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface. meningomyelocele myelomeningocele open spina bifida spina bifida aperta spina bifida manifesta spina bifida, open spina bifida cystica MONDO:0017070 total spina bifida cystica MONDO:0017071 thoracolumbosacral spina bifida cystica MONDO:0017072 lumbosacral spina bifida cystica MONDO:0017073 cervical spina bifida cystica MONDO:0017074 cervicothoracic spina bifida cystica MONDO:0017075 upper thoracic spina bifida cystica MONDO:0017076 Posterior meningocele is a rare neural tube closure defect characterized by the herniation of a cerebrospinal fluid-filled sac, that is lined by dura and arachnoid mater, through a posterior spina bifida and covered by a layer of skin of variable thickness, which may be dysplastic or ulcerated. The spinal cord and nerves are generally not included and function normally, although sometimes a tethered cord may be associated. They are most commonly located in the lumbar or sacral region. posterior meningocele MONDO:0017077 myelocystocele MONDO:0017078 A congenital neural tube closure defect resulting in the protrusion of the brain through a skull opening. When the protrusion includes the meninges, the term encephalomeningocele is used. cephalocele (disease) cephalocele cephalocele (disease) cranium bifidum encephalocele cephalocele MONDO:0017079 A congenital abnormality in which the meninges protrude through a defect in the cranium. brain meninx cephalocele (disease) cephalocele (disease) of brain meninx meningoencephalocele cranial meningocele encephalomeningocele meningoencephalocele MONDO:0017080 occipital encephalocele MONDO:0017081 parietal encephalocele MONDO:0017082 basal encephalocele MONDO:0017084 Leptomyelolipoma is a rare neural tube closure defect characterized by an abnormally low lying conus which is tethered by a lumbosacral lipomatous mass (containing fatty tissue, nerve fibers, meningeal strands and fibrous bands) which engulfs the filum terminale and varying numbers of dorsal and ventral nerve root components, typically producing sensory, motor, bowel and/or bladder dysfunction. Cutaneous stigmata, absent or reduced reflexes and foot defomities (e.g. talipes cavovalgus) are frequently present. leptomyelolipoma MONDO:0017086 Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as turfs of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated. primary tethered spinal cord syndrome occult spinal dysraphism occult spinal dysraphism sequence segmental vertebral anomalies tethered cord syndrome primary tethered cord syndrome MONDO:0017087 neurenteric cyst MONDO:0017088 isolated amyelia MONDO:0017089 A megalencephaly (disease) that is not part of a larger syndrome. isolated macrencephaly isolated megalencephaly (disease) nonsyndromic megalencephaly (disease) isolated megalencephaly MONDO:0017090 Midline brain malformation midline cerebral malformation MONDO:0017091 Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection. bilateral polymicrogyria MONDO:0017092 Unilateral polymicrogyria is a cerebral cortical malformation characterized by unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria. unilateral polymicrogyria MONDO:0017093 Unilateral focal polymicrogyria (BFPP) is the mildest sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement. unilateral focal polymicrogyria MONDO:0017094 Abnormalities in the development of the cerebral cortex. These include malformations arising from abnormal neuronal and glial cell proliferation or apoptosis (Group I); abnormal neuronal migration (Group ii); and abnormal establishment of cortical organization (Group iii). Many inborn metabolic brain disorders affecting cns formation are often associated with cortical malformations. They are common causes of epilepsy and developmental delay. brain cortical dysplasia cortical dysplasia cerebral cortical dysplasia MONDO:0017095 FCD type I isolated focal cortical dysplasia type I MONDO:0017096 FCD type Ia isolated focal cortical dysplasia type Ia MONDO:0017097 FCD type IB isolated focal cortical dysplasia type Ib MONDO:0017098 FCD type Ic isolated focal cortical dysplasia type Ic MONDO:0017100 Neutropenia-monocytopenia-deafness syndrome is characterised by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections. neutropenia-monocytopenia-deafness syndrome MONDO:0017101 FCD type IIa isolated focal cortical dysplasia type IIa MONDO:0017102 FCD type IIb isolated focal cortical dysplasia type IIb MONDO:0017103 encephaloclastic disorder MONDO:0017104 central nervous system cystic malformation MONDO:0017105 Glioependymal/ependymal cyst is a rare central nervous system malformation defined as a subarachnoid, supratentorial, interventricular or intraspinal, sometimes intracerebral or intramedullar cyst with an internal ependymal lining, possibly surrounded by glial tissue. It may be an incidental finding or may present at different ages with clinical features depending on its size and location. It may distort adjacent brain structures and cause macrocephaly, ventriculomegaly, hydrocephalus, focal neurological signs and other signs and symptoms. In some cases, it is associated with other cerebral malformations (e.g. corpus callosum agenesis, polymicrogyria, heterotopias). glioependymal/ependymal cyst MONDO:0017106 retrocerebellar cyst (disease) Retrocerebellar arachnoid cyst Retrocerebellar cyst retrocerebellar cyst (disease) retrocerebellar cyst MONDO:0017107 isolated cerebellar vermis agenesis MONDO:0017108 isolated total cerebellar vermis agenesis MONDO:0017109 isolated partial cerebellar vermis agenesis MONDO:0017110 isolated Dandy-Walker malformation with hydrocephalus MONDO:0017111 isolated Dandy-Walker malformation without hydrocephalus MONDO:0017112 Isolated unilateral hemispheric cerebellar hypoplasia is a rare, non-syndromic cerebellar malformation characterized by loss of volume in the right or left cerebellar hemisphere, with intact vermis and no other neurological anomalies (i.e. normal cerebral hemispheres, fourth ventricle, pons, medulla and midbrain). Patients may be asymptomatic or may present developmental and speech delay, hypotonia, abnormal ocular movements, persistent headaches and/or peripheral vertigo and ataxia. Neurological examination is otherwise normal. isolated unilateral hemispheric cerebellar hypoplasia MONDO:0017113 Isolated bilateral hemispheric cerebellar hypoplasia is a rare cerebellar malformation characterized by hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected patients present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor, and possible presence of emotional fragility and mild depression. isolated bilateral hemispheric cerebellar hypoplasia MONDO:0017114 diffuse cerebellar malformation global cerebellar malformation MONDO:0017116 https://github.com/monarch-initiative/mondo/issues/4069 congenital non-obstructive hydrocephalus congenital communicating hydrocephalus MONDO:0017117 https://github.com/monarch-initiative/mondo/issues/4069 congenital obstructive hydrocephalus congenital non-communicating hydrocephalus MONDO:0017123 Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity. ARC syndrome arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome arthrogryposis, renal dysfunction, and cholestasis arthrogryposis-renal dysfunction-cholestasis arthrogryposis - renal dysfunction - cholestasis arthrogryposis multiplex congenita, renal dysfunction, and cholestasis arthrogryposis renal dysfunction cholestasis syndrome arthrogryposis-renal dysfunction-cholestasis syndrome MONDO:0017124 Noma is a gangrenous disease that causes severe destruction of the soft and osseous tissues of the face. cancrum oris gangrenous stomatitis noma neonatorum oral gangrene oro-facial gangrene oro-facial noma noma https://rarediseases.info.nih.gov/diseases/4001/noma MONDO:0017126 oculo skeletal renal syndrome oculo-skeletal-renal syndrome https://rarediseases.info.nih.gov/diseases/4028/oculo-skeletal-renal-syndrome MONDO:0017127 An instance of mesenchymal cell neoplasm that is caused by an inherited modification of the individual's genome. genetic mesenchymal cell neoplasm genetic mesenchymal tumor hereditary mesenchymal cell neoplasm genetic soft tissue tumor inherited soft tissue tumor MONDO:0017128 genetic digestive tract tumor inherited digestive tract tumor MONDO:0017129 An instance of heart cancer that is caused by a modification of the individual's genome. genetic heart tumor hereditary heart neoplasm genetic cardiac tumor inherited cardiac tumor MONDO:0017131 genetic cardiac anomaly MONDO:0017132 familial TTR-related amyloidosis familial transthyretin-related amyloidosis hereditary ATTR amyloidosis hereditary ATTR amyloidosis MONDO:0017134 Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, cafe-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985. odonto onycho dysplasia with alopecia odonto-onycho dysplasia-alopecia syndrome MONDO:0017135 Olivopontocerebellar atrophy-deafness syndrome is characterised by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases. olivopontocerebellar atrophy deafness olivopontocerebellar atrophy-deafness syndrome MONDO:0017136 Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs. omodysplasia MONDO:0017137 Onchocerciasis is a form of filariasis, caused by the parasitic worm Onchocerca volvulus, transmitted by the black fly. The infection can either be asymptomatic or manifest as an ocular disease (river blindness) with itchy eyes, erythema, photophobia, onchodermatitis or onchocercal skin disease (classified into acute papular, chronic papular, lichenified, atrophic, and depigmentated) and onchocercomas (over bony prominences). Other classic clinical manifestations are ichthyosis-like lesions (''lizard skin'') and ''hanging groin'', which may be associated with lymphadenopathy. Onchocerca volvulus infection infection by Onchocerca volvulus onchocerciasis volvulosis River blindness Robles' disease infection caused by Onchocerca volvulus onchocercosis onchocerciasis https://rarediseases.info.nih.gov/diseases/7252/onchocerciasis MONDO:0017138 Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS). Opitz G syndrome Opitz G/BBB syndrome Opitz GBBB syndrome Opitz syndrome Opitz-Frias syndrome Opitz-GBBB syndrome hypertelorism-oesophageal abnormality-hypospadias syndrome hypospadias-dysphagia syndrome hypospadias-hypertelorism syndrome BBB syndrome G syndrome GBBB syndrome Opitz BBBG syndrome Opitz-G syndrome, type 2 hypertelorism hypospadias syndrome hypertelorism with esophageal abnormality and hypospadias hypospadias-dysphagia, syndrome telecanthus with associated abnormalities Opitz G/BBB syndrome https://rarediseases.info.nih.gov/diseases/193/opitz-gbbb-syndrome MONDO:0017139 Oromandibular-limb hypogenesis syndromes (OLHS) are a group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) characterized by the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies). Oroacral syndrome oro-mandibular-limb hypogenesis syndrome oromandibular-limb hypogenesis syndrome MONDO:0017140 L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis. https://github.com/monarch-initiative/mondo/issues/5588 CRASH syndrome L1 syndrome L1CAM syndrome corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome L1 syndrome MONDO:0017144 https://github.com/monarch-initiative/mondo/issues/5114 2022-09-01 Reason: out of scope. MONDO:excludeGroupingClass. Term to consider:MONDO:0011399 alpha thalassemia alpha-thalassemia and related diseases MONDO:0017145 beta-thalassemia and related diseases MONDO:0017146 https://github.com/monarch-initiative/mondo/issues/5114 2022-09-01 Reason: out of scope. MONDO:excludeGroupingClass. Term to consider:MONDO:0011382 sickle cell anemia sickle cell disease and related diseases MONDO:0017147 Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH) characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal and not associated with an underlying condition or family history of PAH. IPAH primary pulmonary arterial hypertension idiopathic pulmonary arterial hypertension MONDO:0017148 Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal. FPAH HpaH familial pulmonary arterial hypertension hereditary pulmonary arterial hypertension heritable pulmonary arterial hypertension MONDO:0017149 Drug- or toxin-induced pulmonary arterial hypertension (PAH) is a form of pulmonary arterial hypertension (PAH) secondary to the exposition to drugs. Drug- or toxin-induced PAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. Drug or toxin induced PAH is progressive and potentially fatal. drug- or toxin-induced PAH drug- or toxin-induced pulmonary arterial hypertension MONDO:0017157 PH due to lung disease and/or hypoxia PH owing to lung disease and/or hypoxia pulmonary hypertension due to lung disease and/or hypoxia pulmonary hypertension owing to lung disease and/or hypoxia MONDO:0017160 Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy. bv-FTD behavioral variant of frontotemporal dementia MONDO:0017161 Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis). The disease is progressive, with death occurring 2-5 years after onset. FTD-ALS FTD-MND FTDALS frontotemporal dementia with ALS frontotemporal dementia with amyotrophic lateral sclerosis frontotemporal dementia with motor neuron disease MONDO:0017162 Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989. Seghers syndrome imperforate oropharynx-costo vetebral anomalies imperforate oropharynx-costovertebral anomalies syndrome imperforate oropharynx-costo vetebral anomalies syndrome MONDO:0017164 anti-K HDN maternal anti-Kell alloimmunization hemolytic disease of the newborn with Kell alloimmunization MONDO:0017165 Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis characterized by fat malabsorption, neonatal cholestasis and growth failure. bile acid CoA ligase deficiency and defective amidation MONDO:0017167 malignant epithelial tumor of the salivary glands malignant epithelial tumor of salivary glands MONDO:0017168 benign epithelial tumor of salivary glands MONDO:0017169 Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs. https://github.com/monarch-initiative/mondo/issues/5653 men men syndrome men syndromes multiple endocrine adenomatosis multiple endocrine neoplasia multiple endocrine neoplasia syndrome multiple endocrine neoplasia syndrome(s) multiple endocrine neoplasia MONDO:0017170 Idiopathic recurrent stupor is a rare neurologic disease characterized by unpredictable, transient and spontaneous unresponsiveness lasting from hours to days, with a frequency of three to seven attacks per year, in the absence of readily discernible toxic, metabolic or structural causes. idiopathic recurrent stupor MONDO:0017171 MPS6, rapidly progressing MPSVI, rapidly progressing arylsulfatase B deficiency, rapidly progressing mucopolysaccharidosis type VI, rapidly progressing mucopolysaccharidosis type 6, rapidly progressing MONDO:0017172 MPS6, slowly progressing MPSVI, slowly progressing arylsulfatase B deficiency, slowly progressing mucopolysaccharidosis type VI, slowly progressing mucopolysaccharidosis type 6, slowly progressing MONDO:0017173 Non-syndromic male infertility due to sperm motility disorder is a rare, genetic, non-syndromic male infertility disorder characterized by infertility due to sperm with defects in their cilia/flagella structure, leading to absent motility or reduced forward motility in fresh ejaculate. Reduced semen volume, oligospermia and an increased number of abnormally structured spermatozoa is often present. isolated male infertility due to sperm motility disorder non-syndromic male infertility due asthenozoospermia nonsyndromic male infertility due to sperm motility disorder non-syndromic male infertility due to sperm motility disorder MONDO:0017174 Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD) characterized by the presence of marked pyramidal and extrapyramidal signs. SCA3, Joseph type azorean disease, type i spinocerebellar ataxia type 3, Joseph type Machado-Joseph disease type 1 MONDO:0017175 Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs. SCA3, Thomas type azorean disease, type ii spinocerebellar ataxia, Thomas type Machado-Joseph disease type 2 MONDO:0017176 Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy. SCA3, Machado type azorean disease, type iii spinocerebellar ataxia type 3, Machado type Machado-Joseph disease type 3 MONDO:0017177 A rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated. https://github.com/monarch-initiative/mondo/issues/5210 HHML hemihyperplasia-multiple lipomatosis syndrome MONDO:0017178 A rare bone disease characterized by an acquired idiopathic necrotic lesion of subchondral bone with the formation of a sequestrum, which may detach to form loose bodies in joints. OCD mainly affects the knee, ankle and elbow joints and can lead to pain, functional limitations and secondary osteoarthritis. osteochondritis dissecans (disease) Koenig disease Konig disease König disease OCD OD osteochondritis dissecans osteochondritis dissecans (disease) familial osteochondritis dissecans SSOAOD osteochondritis dissecans and short stature osteochondritis dissecans, short stature, and early-onset osteoarthritis short stature and advanced bone Age, with or without early-onset osteoarthritis and/Or osteochondritis Dissecans osteochondritis dissecans MONDO:0017179 Limbic encephalitis with caspr2 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive deficits, psychiatric disturbances (e.g. personality changes), seizures, peripheral nerve hyperexcitability, dysautonomia, neuropathic pain, insomnia and weight loss, in association with detection of caspr2 antibodies in serum or cerebrospinal fluid, with or without underlying malignancies. Other features reported include blepharoclonus, myoclonic status epilepticus, and dyskinesia. limbic encephalitis with caspr2 antibodies MONDO:0017180 https://github.com/monarch-initiative/mondo/issues/3492 dup(10)(q22.3q23.3) trisomy 10q22.3q23.3 10q22.3q23.3 microduplication syndrome MONDO:0017181 Conditions in which the primary symptom is headache and the headache cannot be attributed to any known causes. hypnic headache (disease) hypnic headache hypnic headache (disease) hypnic headache MONDO:0017182 An instance of hyperinsulinism (disease) that is caused by an inherited modification of the individual's genome. hyperinsulinemic hypoglycemia FHI HHI congenital hyperinsulinism familial hyperinsulinemic hypoglycemia hereditary hyperinsulinism (disease) hyperinsulinemia of infancy neonatal hyperinsulinism nesidioblastosis familial hyperinsulinism MONDO:0017183 HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution. hyperinsulinemic hypoglycemia due to UCP2 deficiency hyperinsulinism due to UCP2 deficiency MONDO:0017184 Autosomal dominant hyperinsulinism due to SUR1 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism). autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency autosomal dominant hyperinsulinism due to SUR1 deficiency MONDO:0017185 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism). autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency dominant KATP hyperinsulinism due to Kir6.2 deficiency autosomal dominant hyperinsulinism due to Kir6.2 deficiency MONDO:0017186 Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulism caused by an abnormal insulin production by B-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide. diazoxide-resistant hyperinsulinemic hypoglycemia diazoxide-resistant hyperinsulinism MONDO:0017187 hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency MONDO:0017188 hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency MONDO:0017189 Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulinism caused by an abnormal insulin production by b-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide NI-PHH adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia MONDO:0017190 Sporadic pheochromocytoma/secreting paraganglioma are isolated, non-familial, catecholamin-producing tumors arising from neuroendocrine chromaffin cells in the adrenal medulla or in extra-adrenal chromaffin tissue, respectively. The majority of these tumors are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumor, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating. sporadic pheochromocytoma/secreting paraganglioma MONDO:0017191 sporadic pheochromocytoma MONDO:0017192 sporadic secreting paraganglioma MONDO:0017193 symptomatic form of Coffin-Lowry syndrome in female carriers MONDO:0017194 Blount disease is characterized by disturbed growth of the inner portion of the upper tibial extremity, progressively leading to bowlegged deformity with bone angulation just below the knee (tibia varus). In 60% of cases, the condition affects both legs. Blount disease Blount's disease Osteochondrosis deformans tibiae familial infantile type osteochondrosis deformans tibiae infantile tibia vara tibia vara Blount Blount-Barber syndrome Erlacher-Blount syndrome Osteochondrosis deformans tibiae, familial infantile type tibia vara Blount disease https://rarediseases.info.nih.gov/diseases/916/blount-disease MONDO:0017195 Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures. osteogenesis imperfecta with congenital joint contractures osteogenesis imperfecta-congenital joint contractures syndrome Bruck syndrome MONDO:0017196 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome is characterized by osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two sibs born to consanguineous parents. Al Gazali-Nair syndrome Al Gazali Sabrinathan Nair syndrome osteogenesis imperfecta retinopathy seizures intellectual deficit osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome https://rarediseases.info.nih.gov/diseases/587/al-gazali-sabrinathan-nair-syndrome MONDO:0017197 Osteopathia striata-pigmentary dermopathy-white forelock syndrome is characterised by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock. Whyte-Murphy syndrome Whyte Murphy syndrome osteopathia striata associated with familial dermopathy and white forelock osteopathia striata with pigmentary dermopathy including white forelock osteopathia striata-pigmentary dermopathy-white forelock syndrome MONDO:0017198 Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs. https://github.com/monarch-initiative/mondo/issues/4948 osteopetrosis (disease) Albers-Schonberg disease marble bone marble bone disease marble bones osteopetrosis osteopetrosis (disease) Albers-Schoenberg disease osteopetroses osteopetrosis and related disorders osteosclerosis fragilis osteopetrosis MONDO:0017199 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome is characterised by osteoporosis, macrocephalus, brachytelephalangy, and hyperextensibility of the joints. Congenital amaurosis and intellectual deficit have also been reported. This syndrome has been described in three members of one family. Heide syndrome osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome MONDO:0017200 Polycystic ovaries-urethral sphincter dysfunction syndrome is characterised by urinary retention and incomplete emptying of the bladder associated with abnormal electromyographic activity. It has been described in 33 women, 14 of whom also had polycystic ovaries. fowler-Christmas-Chapple syndrome fowler Christmas Chapple syndrome fowler's syndrome polycystic ovaries urethral sphincter dysfunction voiding dysfunction and polycystic ovaries polycystic ovaries-urethral sphincter dysfunction syndrome MONDO:0017201 Spasmus nutans (SN) is a rare eye disease characterized by the clinical triad of asymmetric and pendular nystagmus, head nodding, and torticollis. Spasmus nutans (disease) Spasmus nutans Spasmus nutans (disease) Spasmus nutans MONDO:0017202 Acute form of endophthalmitis. endophthalmitis, acute acute endophthalmitis MONDO:0017203 Chronic form of endophthalmitis. endophthalmitis, chronic chronic endophthalmitis MONDO:0017204 Toxic maculopathy due to antimalarial drugs is a rare, acquired eye disease, due to long-term exposure to chloroquinine (CQ) or hydrochloroquinine (HCQ), characterized by a slowly progressive, usually non-reversible, development of bilateral atrophic bull's-eye maculopathy (progressive loss of central vision acuity, reduced color vision and central scotoma), which in severe cases can spread over the entire fundus, leading to widespread retinal atrophy and visual loss. toxic maculopathy due to antimalarial drugs MONDO:0017205 Primary oculocerebral lymphoma is a rare, primary, organ-specific, extranodal non-Hodgkin's lymphoma (typically diffuse large B-cell lymphoma), simultaneously affecting the intraocular compartments (retina, vitreous, optic nerve, uvea and others) and the central nervous system (commonly the cerebellum, spinal cord or pia mater). The presenting symptoms vary depending on the localization of the tumor and may include vitreous floaters or blurred vision, raised intracranial pressure (headache, vomiting, papilledema) and/or focal neurological deficits. primary oculocerebral non-Hodgkin lymphoma primary oculocerebral lymphoma MONDO:0017207 primary organ-specific lymphoma MONDO:0017209 infectious posterior uveitis MONDO:0017210 An infectious disease involving a pathogenic inflammatory response in the anterior uvea. infectious secondary iridocyclitis secondary infected iridocyclitis secondary iridocyclitis, infectious infectious anterior uveitis MONDO:0017211 infectious panuveitis MONDO:0017212 paraneoplastic uveitis MONDO:0017213 A rare condition in which a man develops flu-like symptoms after ejaculation (when semen is released from the penis). Specific symptoms can include extreme fatigue, weakness, feverishness or sweating, mood changes or irritability, memory or concentration problems, and/or a stuffy nose or itching eyes. Symptoms may occur within seconds, minutes, or a few hours after ejaculation. Most symptoms last for 2 to 7 days and go away on their own. The underlying cause of POIS is poorly understood. Some scientists believe it may be due to a semen allergy that causes an immediate hypersensitivity reaction. There is no standard treatment for POIS, but some men have been treated with SSRIs, antihistamines, and/or benzodiazepines. Hyposensitization therapy (decreasing the immune response by exposure to semen) reportedly improved symptoms in two men with POIS. https://github.com/monarch-initiative/mondo/issues/3570 POIS post orgasmic sick syndrome postorgasmic illness syndrome https://rarediseases.info.nih.gov/diseases/10809/postorgasmic-illness-syndrome MONDO:0017214 Vitamin B12-responsive methylmalonic acidemia (MA) is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2). adenosylcobalamin deficiency vitamin B12-responsive methylmalonic aciduria vitamin B12-responsive methylmalonic acidemia https://rarediseases.info.nih.gov/diseases/12623/vitamin-b12-responsive-methylmalonic-acidemia MONDO:0017215 Calciphylaxis is a disease in which blood vessels (veins and arteries) become blocked by a build-up of calcium in the walls of the vessels, preventing blood from flowing to the skin or internal organs. The lack of blood flow (ischemia) damages healthy tissue and causes itto die (necrosis). The most obvious and frequent symptom of calciphylaxis is damage to the skin, as ulcers can developand become infected easily. Calciphylaxis can also affect fat tissue, internal organs, and skeletal muscle, causing infections, pain, and organ failure.These symptoms are often irreversible, and many individuals with calciphylaxis may not survive more thana few months after they are diagnosed due to infection that spreads throughout the body (sepsis), or organ failure. The exact cause of calciphylaxis is unknown. Treatments may include medications to reduce pain, antibiotics to treat infections, and various approaches to preventing the development or worsening of this condition. idiopathic calciphylaxis calciphylaxis https://rarediseases.info.nih.gov/diseases/5980/calciphylaxis MONDO:0017216 Calciphylaxis cutis is a life-threatening syndrome characterized by progressive and painful skin ulcerations associated with media calcification of medium-size and small cutaneous arterial vessels. It affects mainly patients on dialysis or after renal transplantation. calciphylaxis cutis MONDO:0017217 Visceral calciphylaxis is a rare, life-threatening, non-inflammatory vasculopathy disorder characterized by diffuse precipitation of calcium in viscera (mainly in the heart or lungs, but also in the stomach or kidneys) leading to fibrosis and thrombosis, which eventually cause necrotic ulcerations of the tissue. Patients may present with dyspnea, cough and respiratory failure or acute heart block and subsequent sudden cardiac death, depending on the affected organ. The disease mainly affects patients on dialysis or patients having undergone renal transplantation. visceral calciphylaxis MONDO:0017218 Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion. Septopreoptic HPE septopreoptic holoprosencephaly MONDO:0017219 Microform holoprosencephaly is a benign form of holoprosencephaly (HPE) characterized by midline defects without the typical HPE defect in brain cleavage. HPE, minor form HPE-L HoloprosencC)phalie, minor form Holoprosencéphalie, minor form Microform HPE holoprosencephaly-like microform holoprosencephaly MONDO:0017220 Laryngo-tracheo-esophageal cleft (LC) type 0 is a congenital respiratory tract anomaly characterized by a submucosal laryngo-tracheo-esophageal cleft with minor symptoms or an asymptomatic course. LTEC0 laryngo-tracheo-esophageal cleft type 0 laryngotracheoesophageal cleft type 0 MONDO:0017221 The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD. Pelizaeus-Merzbacher disease type II connatal PMD severe PMD Pelizaeus-Merzbacher disease, connatal form MONDO:0017222 The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD. classic PMD Pelizaeus-Merzbacher disease, classic form MONDO:0017223 The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD. transitional PMD Pelizaeus-Merzbacher disease, transitional form MONDO:0017224 Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD in some women carrying mutations in the PLP1 gene (Xq22). Pelizaeus-Merzbacher disease in female carriers MONDO:0017225 The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy. PLP1 null syndrome Pelizaeus-Merzbacher disease, null syndrome null syndrome MONDO:0017226 Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD). PMLD Pelizaeus-Merzbacher-like disease https://rarediseases.info.nih.gov/diseases/12300/pelizaeus-merzbacher-like-disease MONDO:0017227 Type 1 autoimmune pancreatitis is a form of autoimmune pancreatitis seen in elderly males (>60 years) and presenting with abdominal pain, steatorrhea, obstructive jaundice and other organ (bile duct, kidneys and retroperitoneum) involvement. It is thought to be due to an immunoglobulin G4 (IgG4)-associated systemic disease. AIP type 1 IgG4-related pancreatitis autoimmune pancreatitis type 1 lymphoplasmacytic sclerosing pancreatitis autoimmune pancreatitis type 1 MONDO:0017228 Type 2 autoimmune pancreatitis is a form of autoimmune pancreatitis (see this term) affecting both sexes and having a younger age of onset (<60 years) and presenting with abdominal pain, steatorrhea and obstructive jaundice. AIP type 2 duct-centric pancreatitis autoimmune pancreatitis type 2 MONDO:0017229 Distal monosomy 12p is a rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly. https://github.com/monarch-initiative/mondo/issues/3664 12p13.33 microdeletion syndrome Del(12)(p13.33) distal deletion 12p distal monosomy type 12p distal monosomy 12p MONDO:0017230 https://github.com/monarch-initiative/mondo/issues/5723 autosomal semi-dominant severe lipodystrophic laminopathy MONDO:0017231 erythropoietic uroporphyria associated with myeloid malignancy https://rarediseases.info.nih.gov/diseases/10948/erythropoietic-uroporphyria-associated-with-myeloid-malignancy MONDO:0017232 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disabilty disorder characterized by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position. https://github.com/monarch-initiative/mondo/issues/5588 IDMDC recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome MONDO:0017233 familial Alzheimer-like prion disease MONDO:0017234 An instance of prion disease that is caused by an inherited modification of the individual's genome. familial prion disease hereditary prion disease inherited prion disease MONDO:0017235 Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands. familial omphalocele syndrome with facial dysmorphism MONDO:0017236 Inflammation of the glomeruli that is characterized by a rapid loss in renal function with glomerular crescent formation observed on biopsy; it is often seen in patients with concomitant autoimmune disease, like Goodpasture's syndrome or systemic lupus erythematosus. RPGN crescentic glomerulonephritis rapidly progressive glomerulonephritis MONDO:0017237 hereditary sensorimotor neuropathy with hyperelastic skin https://rarediseases.info.nih.gov/diseases/11010/hereditary-sensorimotor-neuropathy-with-hyperelastic-skin MONDO:0017238 transient neonatal cyanosis and anemia due to Toms River Hemoglobin hemoglobinopathy Toms River MONDO:0017239 Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance. FPHH familial progressive hyper- and hypopigmentation MONDO:0017240 acrodysostosis with multiple hormone resistance MONDO:0017241 A disorder that presents with spastic paraplegia and intellectual disability in which the cause of the disease is a mutation in the AP4B1 gene. https://github.com/monarch-initiative/mondo/issues/5588 AP4 deficiency syndrome AP4 related intellectual disability and spastic paraplegia severe intellectual disability and progressive spastic paraplegia AP4-related intellectual disability and spastic paraplegia MONDO:0017242 Cutaneous collagenous vasculopathy (CCV) is a primary microangiopathy confined to the skin, characterized by multiple and widespread telangiectasias. CCV cutaneus colagenous vasculopathy cutaneous collagenous vasculopathy MONDO:0017243 Bullous diffuse cutaneous mastocytosis (BDCM) is a form of diffuse cutaneous mastocytosis (DCM) characterized by generalized erythroderma and severe blistering associated with the accumulation of mast cells in the skin. bullous DCM bullous diffuse cutaneous mastocytosis MONDO:0017244 Pseudoxanthomatous diffuse cutaneous mastocytosis (PDCM) is a rare form of diffuse cutaneous mastocytosis (DCM) characterized by yellow-orange infiltrated and xanthogranuloma-like lesions with only limited blistering. Pseudoxanthomatous DCM infiltrative small vesicular DCM infiltrative small vesicular diffuse cutaneous mastocytosis pseudoxanthomatous diffuse cutaneous mastocytosis MONDO:0017245 congenital intrapulmonary sequestration intralobar congenital bronchopulmonary sequestration intralobar congenital pulmonary sequestration MONDO:0017246 congenital extrapulmonary sequestration extralobar congenital bronchopulmonary sequestration extralobar congenital pulmonary sequestration MONDO:0017247 communicating congenital bronchopulmonary-foregut malformation MONDO:0017248 CPAM type 0 congenital cystic adenomatoid malformation of the lung type 0 congenital cystic adenomatous malformation of the lung type 0 congenital pulmonary airway malformation type 0 MONDO:0017249 https://github.com/monarch-initiative/mondo/issues/4069 CCAM type 1 CPAM type 1 congenital cystic adenomatoid malformation of the lung type 1 congenital cystic adenomatous malformation of the lung type 1 congenital cystic disease of the lung type 1 congenital pulmonary airway malformation type 1 MONDO:0017250 CCAM type 2 CPAM type 2 congenital cystic adenomatoid malformation of the lung type 2 congenital cystic adenomatous malformation of the lung type 2 congenital cystic disease of the lung type 2 congenital pulmonary airway malformation type 2 MONDO:0017251 CCAM type 3 CPAM type 3 congenital cystic adenomatoid malformation of the lung type 3 congenital cystic adenomatous malformation of the lung type 3 congenital cystic disease of the lung type 3 congenital pulmonary airway malformation type 3 MONDO:0017252 CPAM type 4 congenital cystic adenomatoid malformation of the lung type 4 congenital cystic adenomatous malformation of the lung type 4 congenital pulmonary airway malformation type 4 MONDO:0017255 A disorder characterized by inflammation of the entire uvea which includes the iris, ciliary body, and choroid. Causes include systemic infections, sarcoidosis, and cancers. panuveitis (disease) diffuse uveitis panuveitis panuveitis (disease) total uveitis panuveitis MONDO:0017256 idiopathic anterior uveitis MONDO:0017257 Idiopathic posterior uveitis is a rare, potentially sight-threatening, ocular disease, not attributed to any specific ocular or systemic cause, characterized by focal, multifocal or diffuse non-infectious inflammation in the posterior uvea (i.e. choroiditis, chorioretinitis, retinitis and neuroretinitis). Visual morbidity due to complications (including cystoid macular edema and choroidal neovascularization) has been reported. idiopathic posterior uveitis MONDO:0017258 Idiopathic panuveitis is a rare inflammatory eye disease, of unknown etiology, characterized by generalized inflammation of the uvea (iris, ciliary body, choroid), retina and vitreous with consequent ciliary spasm and posterior synechiae formation, leading to acute or chronic, unilateral or bilateral visual impairment and ocular discomfort or pain. Patients present an increased risk of development of cataracts, secondary glaucoma, cystoid macular edema and/or retinal detachment. It could potentially result in vision loss. idiopathic panuveitis MONDO:0017262 A inherited ichthyosis that is not part of a larger syndrome. isolated inherited ichthyosis nonsyndromic inherited ichthyosis inherited non-syndromic ichthyosis MONDO:0017263 A inherited ichthyosis that is part of a larger syndrome. syndrome associated with inherited ichthyosis syndromic inherited ichthyosis inherited ichthyosis syndromic form MONDO:0017264 Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI that are associated with extracutaneous manifestations as part of a syndrome. recessive X-linked ichthyosis with extracutaneous manifestations syndrome associated with recessive X-linked ichthyosis syndromic RXLI syndromic X-linked ichthyosis syndromic recessive X-linked ichthyosis syndromic recessive X-linked ichthyosis MONDO:0017265 Autosomal recessive form of inherited ichthyosis. https://github.com/monarch-initiative/mondo/issues/4069 ARCI autosomal recessive inherited ichthyosis ichthyosis, congenital, autosomal recessive inherited ichthyosis, autosomal recessive Editor note: ORDO, PMID:20643494, PMID:23562412 classifies as non-syndromic. A previous comment said syndromic forms exist but I couldn't find evidence of that in the literature (NV). autosomal recessive congenital ichthyosis MONDO:0017266 https://github.com/monarch-initiative/mondo/issues/2114 KPI keratinopathic ichthyosis MONDO:0017267 Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life. SHCB SICI self-improving congenital ichthyosis self-improving collodion baby self-healing collodion baby MONDO:0017268 Acral self-healing collodion baby (SHCB) is a variant of SHCB characterized by the presence at birth of a collodion membrane only at the extremities. acral SHCB acral self-healing collodion baby MONDO:0017269 X-linked form of inherited ichthyosis syndromic form. X-linked inherited ichthyosis syndromic form inherited ichthyosis syndromic form, X-linked Editor note: check relationship to syndromic recessive X-linked ichthyosis X-linked ichthyosis syndrome MONDO:0017270 autosomal ichthyosis syndrome MONDO:0017275 Spastic paraplegia-facial-cutaneous lesions syndrome is a complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982. Bahemuka-Brown syndrome Bahemuka Brown syndrome spastic paraplegia facial cutaneous lesions spastic paraplegia-facial-cutaneous lesions syndrome MONDO:0017276 Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy. FTD Wilhemsen-Lynch disease frontotemporal lobar degeneration multiple system tauopathy with presenile dementia pallidopontonigral degeneration MSTD frontotemporal lobe dementia (FLDEM) frontotemporal dementia MONDO:0017277 https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome type 12 partial monosomy of chromosome 12 partial deletion of chromosome 12 MONDO:0017278 A group of diverse conditions that are characterized by spontaneous, multi-organ autoimmunity, which target both endocrine (adrenal, gonad, pancreatic islet cells, parathyroid, pituitary, thyroid) and non-endocrine (gastrointestinal, integumentary, lymphatic) tissues. APS Lloyd's syndrome autoimmune polyendocrine syndrome autoimmune polyendocrine syndrome; polyglandular autoimmune syndrome autoimmune polyendocrinopathy autoimmune polyendocrinopathy syndrome autoimmune polyglandular failure autoimmune polyglandular syndrome autoimmune polyglandular syndrome(s) autoimmune polyendocrinopathy MONDO:0017279 A form of Parkinson disease (PD) characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms. YOPD early-onset Parkinson disease early-onset Parkinson's disease young-onset Parkinson disease MONDO:0017280 Demodicidosis is a rare parasitic cutaneous disease due to Demodex mite infestation characterized by variable degrees of spinulosis, erythema, papules, and pustules, usually accompanied by a burning or pruritic sensation. Face (incl. eyelids) is most frequently affected, but ear canal, scalp, neck, back, chest, nipples, buttocks, penis, and extremity (legs and arms) involvement have also been observed. Dermoscopic examination reveals Demodex tails and follicular openings. Demodex caused disease or disorder Demodex disease or disorder Demodex infectious disease Demodicosis demodectic mange red mange demodicidosis https://rarediseases.info.nih.gov/diseases/1802/demodicidosis MONDO:0017281 renal caliceal diverticuli-deafness syndrome MONDO:0017282 Alveolar echinococcosis (AE) is a rare parasitic disorder that occurs after ingestion of eggs of Echinococcus multilocularis. AE is characterized by an initial asymptomatic incubation period of many years followed by a chronic course where the clinical manifestations include epigastric pain and jaundice. echinococcosis Echinococcus multilocularis caused disease or disorder Echinococcus multilocularis disease or disorder Echinococcus multilocularis infection Echinococcus multilocularis infectious disease alveolococcosis multilocular hydatid small fox tapeworm echinococcus multilocularis infection alveolar echinococcosis MONDO:0017283 https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/5424 https://github.com/monarch-initiative/mondo/issues/5546 10p12p11 microdeletion syndrome Del(10)(p11.21p12.31) deletion 10p11.21p12.31 facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion monosomy 10p11.21p12.31 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion MONDO:0017284 https://github.com/monarch-initiative/mondo/issues/3492 https://github.com/monarch-initiative/mondo/issues/5588 Duplication Xp22 dup(X)(p22) dup(X)(p22.13p22.2) Xp22.13p22.2 duplication syndrome MONDO:0017285 Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases). penoscrotal transposition (disease) congenital penoscrotal transposition penoscrotal transposition penoscrotal transposition (disease) Prepenile scrotum congenital transposition of the penis penoscrotal transposition MONDO:0017286 TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting. telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome telangiectasia - erythrocytosis - monoclonal gammopathy - perinephric-fluid collections - intrapulmonary shunting tempi syndrome https://rarediseases.info.nih.gov/diseases/10962/tempi-syndrome MONDO:0017287 A recently described mass-forming lesion that occurs in the pancreas, submandibular glands, lacrimal glands, lymph nodes, and hepatobiliary tract. It is characterized by the presence of marked tissue sclerosis and infiltration by numerous plasma cells. The plasma cells show immunohistochemical staining for IgG4 and the serum IgG4 levels are often increased. https://github.com/monarch-initiative/mondo/issues/3539 IgG4-RD IgG4-related sclerosing disease IgG4-related systemic disease Immunoglobulin G4-related sclerosing disease IgG4-associated disease IgG4-positive multiorgan lymphoproliferative syndrome IgG4-related autoimmune disease IgG4-related systemic sclerosing disease IgG4-syndrome hyper-IgG4 disease multifocal fibrosclerosis multifocal idiopathic fibrosclerosis systemic IgG4-related plasmacytic syndrome systemic IgG4-related sclerosing syndrome IgG4-related disease MONDO:0017288 A rare, autosomal dominant inherited syndrome caused by mutations in the DICER1 gene. People with this syndrome are at an increased risk of developing pleuropulmonary blastoma, cystic nephroma, Sertoli-Leydig cell tumor of the ovary, and multinodular goiter. DICER1 syndrome PPB familial tumor susceptibility syndrome PPBFTDS pleuro-pulmonary blastoma familial tumor susceptibility syndrome pleuropulmonary blastoma familial tumor susceptibility syndrome DICER1-related pleuropulmonary blastoma DICER1-related pleuropulmonary blastoma cancer predisposition syndrome DICER1 syndrome https://rarediseases.info.nih.gov/diseases/10734/dicer1-related-pleuropulmonary-blastoma-cancer-predisposition-syndrome MONDO:0017289 flit immature interstitial mesenchymal tumor fetal lung interstitial tumor MONDO:0017290 An instance of intrahepatic cholestasis that is caused by an inherited modification of the individual's genome. hereditary intrahepatic cholestasis familial intrahepatic cholestasis MONDO:0017291 Reversible cerebral vasoconstriction syndrome (RCVS) is an infrequent cerebrovascular disorder characterized by severe headaches with or without focal neurological deficits or seizures, and a reversible segmental and multifocal vasoconstriction of cerebral arteries. RCVS reversible cerebral vasoconstriction syndrome https://rarediseases.info.nih.gov/diseases/12768/reversible-cerebral-vasoconstriction-syndrome MONDO:0017292 Well-differentiated fetal adenocarcinoma (WDFA) of the lung is a rare, primary, low-grade, bronchopulmonary neoplasm characterized by a well-circumscribed, usually large, pulmonary mass that is histologically composed of glycogen-rich neoplastic glands and tubules that resemble fetal lungs at 10 to 16 weeks of gestation and benign adjacent stroma. It typically presents with chest pain, cough, dyspnea, hemoptysis and/or generalized, non-specific symptoms, such as night sweats, lethargy, poor appetite and weight loss. WDFA fetal adenocarcinoma fetal lung adenocarcinoma pulmonary adenocarcinoma of fetal type pulmonary endodermal tumor resembling fetal lung well-differentiated fetal lung adenocarcinoma well-differentiated fetal adenocarcinoma of the lung MONDO:0017294 Infantile glycerol kinase deficiency (GKD) is a severe form of GKD characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy. https://github.com/monarch-initiative/mondo/issues/4985 glycerol kinase deficiency, infantile form MONDO:0017295 Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness. https://github.com/monarch-initiative/mondo/issues/4985 glycerol kinase deficiency, juvenile form MONDO:0017296 Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults. https://github.com/monarch-initiative/mondo/issues/4985 glycerol kinase deficiency, adult form MONDO:0017297 CLIPPERS chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids MONDO:0017298 Acute zonal occult outer retinopathy (AZOOR) is a rare condition that affects the eyes. People with this condition may experience a sudden onset of photopsia (the presence of perceived flashes of light) and an area of partial vision loss (a blindspot). Other symptoms may include 'whitening of vision' or blurred vision. Although anyone can be affected, the condition is most commonly diagnosed in young women (average age 36.7 years). The underlying cause of AZOOR is currently unknown; however, some researchers have proposed that infectious agents (such as viruses) or autoimmunity may play a role in the development of the condition. No treatment has been proven to improve the visual outcome of AZOOR; however, systemic corticosteroids are the most commonly used therapy. AZOOR acute zonal occult outer retinopathy https://rarediseases.info.nih.gov/diseases/8640/acute-zonal-occult-outer-retinopathy MONDO:0017299 AAOR acute annular outer retinopathy MONDO:0017300 Congenital pericardium anomaly comprises a group of rare congenital cardiac malformations characterized by the complete (Congenital complete agenesis of pericardium) or partial absence of the pericardium (Congenital partial agenesis of pericardium), or by the presence of pericardial cysts (Pleuropericardial cyst). congenital pericardium anomaly MONDO:0017301 Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect. pericardial and diaphragmatic defect MONDO:0017302 https://github.com/monarch-initiative/mondo/issues/5114 qualitative or quantitative defects of troponin MONDO:0017303 https://github.com/monarch-initiative/mondo/issues/5114 qualitative or quantitative defects of tropomyosin MONDO:0017304 Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity. ocular albinism (disease) XLOA ocular albinism ocular albinism (disease) ocular albinism MONDO:0017305 A oculocutaneous albinism that is part of a larger syndrome. syndrome associated with oculocutaneous albinism syndromic oculocutaneous albinism syndromic oculocutaneous albinism MONDO:0017306 disorder of phenylalanine metabolism MONDO:0017307 disorder of tyrosine metabolism MONDO:0017309 Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated. neonatal MFS neonatal Marfan syndrome MONDO:0017310 Marfan and Marfan-related disorder MONDO:0017312 Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit. Perrault syndrome XX gonodal dysgenesis-deafness syndrome gonadal dysgenesis, XX type, with deafness Perrault syndrome MONDO:0017313 disorder of folate metabolism and transport MONDO:0017314 Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS. EDS IV EDS type 4 Ehlers-Danlos syndrome type 4 Ehlers-Danlos syndrome type IV Ehlers-Danlos syndrome, type IV Ehlers-Danlos syndrome, vascular type sack-Barabas syndrome EDS IV (formerly) EDS type 4 (formerly) EDS4 (formerly) Ehlers Danlos syndrome, arterial type Ehlers Danlos syndrome, ecchymotic type Ehlers Danlos syndrome, sack-Barabas type Ehlers-Danlos syndrome type 4 (formerly) Ehlers-Danlos syndrome type IV (formerly) vEDS vascular EDS vascular Ehlers-Danlos syndrome Ehlers-Danlos syndrome, vascular type MONDO:0017315 Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin sibs born to consanguineous parents. https://github.com/monarch-initiative/mondo/issues/5588 Al Gazali-Aziz-Salem syndrome Al Gazali Aziz Salem syndrome short stature, intellectual disability, facial dysmorphism, short webbed neck, skin changes and congenital heart disease short stature, webbed neck, heart disease short stature-webbed neck-heart disease syndrome MONDO:0017316 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome is characterised by short stature, sensorineural deafness, mutism, facial dysmorphism and abnormal neutrophil chemotaxis (leading to recurrent infections). thong-Douglas-Ferrante syndrome short stature deafness neutrophil dysfunction thong Douglas Ferrante syndrome short stature-deafness-neutrophil dysfunction-dysmorphism syndrome MONDO:0017317 Phakomatosis pigmentokeratotica (PPK) is a very rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies. Phacomatosis pigmentokeratotica organoid nevus with sebaceous differentiation, a speckled-lentiginous nevus, and other associated anomalies phakomatosis pigmentokeratotica MONDO:0017318 phakomatosis pigmentovascularis port-wine stain with oculocutaneous melanosis PPv Phacomatosis pigmentovascularis association of cutaneous vascular malformations and different pigmentary disorders phakomatosis pigmentovascularis MONDO:0017319 Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic. HE congenital elliptocytosis hereditary ovalocytosis ovalocytosis hereditary elliptocytosis MONDO:0017320 Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder. https://github.com/monarch-initiative/mondo/issues/4985 PEPCK deficiency phosphoenolpyruvate carboxykinase (GTP) deficiency phosphoenolpyruvate carboxykinase deficiency MONDO:0017321 Pili torti-onychodysplasia is a form of ectodermal dysplasia characterised by dystrophy of the distal part of the nails and trichodysplasia. It has been described in only one family. Transmission is autosomal recessive. pili torti-onychodysplasia syndrome MONDO:0017322 disorders of vitamin D metabolism MONDO:0017323 Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR). Calciopenic rickets calcium deficiency rickets hypocalcemic rickets MONDO:0017324 Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth. ARHR autosomal recessive hereditary hypophosphatemic rickets hereditary hypophosphatemic rickets, autosomal recessive hypophosphatemic rickets, autosomal recessive autosomal recessive hypophosphatemic rickets MONDO:0017325 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI. https://github.com/monarch-initiative/mondo/issues/5588 early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation MONDO:0017326 A rare and severe chronic disease characterized by recurrent chronic eczema (with erythematous, scaly and crusted lesions) mainly affecting seborrheic areas (e.g. scalp, forehead, eyelids, paranasal and periauricular skin, neck, axillae, and groin), a generalized fine papular rash, chronic nasal discharge with crusting of the anterior nares, and non-virulent Staphylococcus aureus or beta-hemolytic Streptococcus infections, thought to be a result of HTLV-1-induced immunosuppression. Lymphadenopathy, anemia, mild to moderate pruritus and increased incidence of other infections (e.g. crusted scabies) have also been reported in some patients. Patients may subsequently develop other HTLV-1 associated conditions such as adult T-cell leukemia/lymphoma and tropical spastic paraparesis. IDH IDH Gene family infective dermatitis associated with human T-lymphotropic virus type 1 infective dermatitis associated with human T-lymphotropic virus type I isocitrate dehydrogenase Gene family infective dermatitis associated with HTLV-1 MONDO:0017327 Primary non-gestational choriocarcinoma of ovary is a rare ovarian germ cell malignant tumor, arising from primordial germ cells, usually presenting with nausea, vomiting, abdominal pain, menstrual irregularities, and characterized by fast growth pattern, metastasis to lung, liver and brain and production of human chorionic gonadotrophin (hCG). It is apparently chemoresistant and has a worse prognosis than gestational choriocarcinoma and hence should be distinguished from the latter by DNA polymorphism. NGCO primary non-gestational ovarian choriocarcinoma primary non-gestational choriocarcinoma of ovary MONDO:0017328 non-CNS-localized embryonal carcinoma non-central nervous system-localized embryonal carcinoma MONDO:0017329 Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible. familial VUR hereditary vesicoureteral reflux (disease) familial vesicoureteral reflux MONDO:0017330 cancer diagnosed during pregnancy malignancy diagnosed during pregnancy MONDO:0017331 Pilotto syndrome is a rare genetic multiple developmental anomalies syndrome, that is characterized by craniofacial anomalies (microcephaly, brachycephaly, craniosynostosis, facial asymmetry, cleft lip, cleft palate, dysmorphic facial features, ear lobe malformations, low hair line), congenital heart defects, hypogenitalism and/or hypogonadism, intellectual disability, scoliosis or kyphoscoliosis, short hypoplastic ribs, failure to thrive, growth delay, short stature and/or micromelia. There have been no further descriptions in the literature since 1975. cleft lip and palate, congenital heart disease, scoliosis, short stature, and intellectual disability cleft lip and palate, congenital heart disease, scoliosis, short stature, and mental retardation Pilotto syndrome https://rarediseases.info.nih.gov/diseases/4368/pilotto-syndrome MONDO:0017332 pash syndrome pyoderma gangrenosum-acne-suppurative hidradenitis syndrome MONDO:0017334 12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated. https://github.com/monarch-initiative/mondo/issues/3664 Del(12)(q15)(q21.1) deletion 12q15q21.1 monosomy 12q15q21.1 12q15q21.1 microdeletion syndrome MONDO:0017335 Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophris, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia. https://github.com/monarch-initiative/mondo/issues/3492 tetrasomy 11q24.1 microtriplication 11q24.1 MONDO:0017336 fatal infantile HCM due to mitochondrial complex I deficiency fatal infantile hypertrophic cardiomyopathy due to NADH-CoQ reductase deficiency fatal infantile hypertrophic cardiomyopathy due to NADH-coenzyme Q reductase deficiency fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency MONDO:0017337 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands. inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency MONDO:0017338 Multiple mitochondrial dysfunctions syndrome describes a group of rare inborn errors of energy metabolism due to defects in mitochondrial [4Fe-4S] protein assembly. Patients present with a neonatal/infancy onset of metabolic lactic acidosis (that may be associated with hyperglycinemia and other abnormal metabolic testing results), muscular hypotonia, absence of psychomotor development or developmental regression, as well as abnormal neuroimaging findings (including leukodystrophy, brain developmental defects, white matter abnormalities, cerebral atrophy), and other variable clinical features (e.g., optic atrophy, cardiomyopathy, pulmonary hypertension, seizures, and dysmorphic features). Early fatal outcome is usual. multiple mitochondrial dysfunctions syndrome MMDS fatal multiple mitochondrial dysfunction syndrome fatal multiple mitochondrial dysfunctions syndrome MONDO:0017339 Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment. autosomal recessive exfoliative ichthyosis exfoliative ichthyosis ichthyosis exfoliativa exfoliative ichthyosis MONDO:0017340 Juvenile nasopharyngeal angiofibroma (JNA) is a rare and benign but locally aggressive fibrovascular tumor arising from the posterolateral wall of the nasopharynx, which affects mainly young and adolescent males (onset usually occurring between 7-19 years of age) and that presents as a mass in the nasopharynx and nasal cavity, leading to manifestations such as nasal obstruction, epistaxis, profound facial swelling, proptosis or diplopia. Although slowly progressive, it has a high rate of recurrence and sometimes invades adjacent structures. juvenile nasopharyngeal angiofibroma (disease) JNA juvenile nasopharyngeal angiofibroma juvenile nasopharyngeal angiofibroma (disease) nasopharyngeal angiofibroma nasopharyngeal juvenile angiofibroma juvenile nasopharyngeal angiofibroma MONDO:0017341 https://github.com/monarch-initiative/mondo/issues/254 virus associated tumor MONDO:0017342 EBV-related tumor Epstein-Barr virus-related tumor MONDO:0017343 EBV-associated lymphoproliferative disorder the classification of diseases such as HL and BL under this class is not consistent with MONDO design patterns, since not all instances of these diseases are caused by EBV Epstein-Barr virus-associated malignant lymphoproliferative disorder MONDO:0017344 EBV-associated carcinoma Epstein-Barr virus-associated carcinoma MONDO:0017345 EBV-associated mesenchymal tumor Epstein-Barr virus-associated mesenchymal tumor MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly is a rare form of diffuse large B-cell lymphoma occurring most commonly in patients over the age of 50 (usually between 70-75 years of age), without overt immunodeficiency, and presenting with nodal and extranodal involvement (in sites such as the stomach, lung, skin and pancreas) and B symptoms (fever, night sweats, weight loss). The tumor is characterized by an aggressive course and a short survival rate. EBV Positive diffuse large B-cell lymphoma of the elderly EBV-Positive diffuse large B-cell lymphoma, NOS EBV-positive DLBCL of the elderly Epstein-Barr Virus Positive diffuse large B-cell lymphoma of the elderly Senile EBV-associated B-cell lymphoproliferative disorder age-related EBV Positive B-cell lymphoproliferative disorder Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly MONDO:0017347 An aggressive diffuse large B-cell lymphoma frequently arising in the setting of HIV infection and characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells. Sites of involvement include the oral cavity, sinonasal cavity, skin, soft tissues, gastrointestinal tract, and bone. PBL Plasmablastic lymphoma PLBL plasmablastic lymphoma https://rarediseases.info.nih.gov/diseases/12125/plasmablastic-lymphoma MONDO:0017348 Lymphoepithelial-like carcinoma is a rare, malignant epithelial tumor, composed of undifferentiated epithelial cells with dense lymphoid stroma, mimicking lymphoepithelioma. It often shows association with Epstein-Barr virus infection and can develop in various organs, such as the nasopharynx, stomach, skin, breast and lungs, among others. The presenting symptoms, as well as the radiologic features, are usually nonspecific and depend on the affected site and organ. lymphoepithelial-like carcinoma MONDO:0017349 A usually slow growing, subcutaneous nodular neoplasm arising from myopericytes. It is composed of myoid cells arranged in a perivascular growth pattern. The vast majority of cases have a benign clinical course. solitary myofibroma MPC hemangiopericytoma myopericytoma MONDO:0017350 An inherited metabolic disease that is has its basis in the disruption of tryptophan metabolic process. inborn error of tryptophan metabolic process inborn tryptophan metabolic process disorder rare inborn error of tryptophan metabolic process disorder of tryptophan metabolism inborn disorder of tryptophan metabolism MONDO:0017351 disorder of lysine and hydroxylysine metabolism inborn disorder of lysine and hydroxylysine metabolism MONDO:0017352 disorder of glutamine metabolism MONDO:0017353 Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay. classic glycine encephalopathy neonatal NKH neonatal non-ketotic hyperglycinemia neonatal glycine encephalopathy MONDO:0017354 Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE), characterized by early hypotonia, developmental delay and seizures. glycine encephalopathy of infancy infantile NKH infantile non-ketotic hyperglycinemia infantile onset glycine encephalopathy infantile glycine encephalopathy MONDO:0017355 An inherited metabolic disease that is has its basis in the disruption of proline metabolic process. disorder of proline metabolism inborn error of proline metabolic process inborn proline metabolic process disorder rare inborn error of proline metabolic process inborn disorder of proline metabolism MONDO:0017356 An inherited metabolic disease that is has its basis in the disruption of ornithine metabolic process. disorder of ornithine metabolism inborn error of ornithine metabolic process inborn ornithine metabolic process disorder rare inborn error of ornithine metabolic process inborn disorder of ornithine metabolism MONDO:0017357 transient hyperammonemia of the newborn MONDO:0017359 A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine. 3-methylglutaconic aciduria MONDO:0017360 Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. https://github.com/monarch-initiative/mondo/issues/4985 complete deficiency of methylmalonyl-CoA mutase vitamin B12-unresponsive methylmalonic aciduria type mut0 vitamin B12-unresponsive methylmalonic acidemia type mut0 MONDO:0017361 An infectious embryofetopathy that may present in an infant as a result of maternal infection and subsequent fetal infection with rubella virus. CRS can lead to deafness, cataract, and variety of other permanent manifestations including cardiac and neurological defects. https://github.com/monarch-initiative/mondo/issues/4069 CRS congenital rubella congenital rubella syndrome fetal rubella syndrome mother-to-child transmission of rubella syndrome rubella congenital congenital rubella syndrome MONDO:0017362 Neuralgic amyotrophy (NA) is an uncommon disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form. brachial plexus neuritis acute brachial plexus neuritis immune brachial plexus neuropathy mononeuritis multiplex with brachial predilection neuralgic shoulder amyotrophy neuralgic amyotrophy MONDO:0017363 A very rare, severe, interstitial lung disease of insidious onset with subacute or chronic non-specific respiratory manifestations (dyspnea, cough, wheezing) often associated with systemic manifestations (fatigue, malaise, weight loss). chronic eosinophilic pneumonia Carrington syndrome Carrington's disease Carrington's pulmonary eosinophilia chronic eosinophilic pneumonia (CEP) chronic idiopathic eosinophilic pneumonia eosinophilic idiopathic chronic pneumopathy idiopathic chronic eosinophilic pneumonia MONDO:0017364 POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis/erythrocytosis, and elevated VEGF levels. Crow-Fukase syndrome PEP syndrome POEMS syndrome Takatsuki syndrome osteosclerotic myeloma polyneuropathy-endocrinopathy-plasma cell dyscrasia syndrome polyneuropathy organomegaly polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes syndrome POEMS syndrome is associated with plasmacytomas and osteosclerotic lesions. The etiologic factors of this constellation of diseases are not well defined, but radiation therapy to localized lesions is often of benefit, and there is a report that autologous hematopoetic cell transplantation benefited a patient with refractory disease. POEMS syndrome MONDO:0017365 congenital poikiloderma with bullae, Weary type hereditary acrokeratotic poikiloderma, Weary type MONDO:0017366 Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas). familial pheochromocytoma-paraganglioma hereditary pheochromocytoma-paraganglioma SDHx-related paraganglioma-pheochromocytoma hereditary paraganglioma-pheochromocytoma hereditary pheochromocytoma-paraganglioma https://rarediseases.info.nih.gov/diseases/11984/hereditary-paraganglioma-pheochromocytoma MONDO:0017372 Fetal varicella syndrome (CVS) is an acquired developmental anomaly syndrome characterized by skin, neurological, ocular, limbs and growth defects secondary to maternal Varicella-Zoster Virus (VZV) infection. https://github.com/monarch-initiative/mondo/issues/4069 antenatal varicella virus infection mother-to-child transmission of varicella syndrome Varicella embryopathy Varicella virus antenatal infection fetal effects of chickenpox fetal effects of varicella zoster virus fetal varicella infection fetal varicella zoster syndrome congenital varicella syndrome https://rarediseases.info.nih.gov/diseases/45/congenital-varicella-syndrome MONDO:0017373 An acute infectious disorder that affects the nervous system. It is caused by the poliovirus. The virus spreads by direct contact, and can be prevented by prophylaxis with the polio vaccine. Polia acute poliomyelitis polio poliomyelitis infantile paralysis poliomyelitis MONDO:0017375 Congenital viral infections with enteroviruses (EV) including coxsackie viruses and ECHO viruses is an infectious embryofetopathy that have been reported to cause spontaneous abortion, stillbirth, fetal malformations and acute systemic illness in the newborn. antenatal enterovirus infection congenital enterovirus infection congenital enterovirus infectious disease congenital infection caused by enterovirus mother-to-child transmission of enterovirus infection congenital enterovirus infection MONDO:0017376 Reactive arthritis (ReA) is an autoimmune disorder belonging to the group of seronegative spondyloarthropathies and is characterized by the classic triad of arthritis, urethritis and conjunctivitis. Fiessinger Leroy Reiter syndrome Fiessinger-Leroy disease Fiessinger-Leroy-Reiter syndrome Reiter disease Reiter syndrome Reiter's disease Reiter's syndrome arthritis urethritica polyarthritis enterica post-bacterial arthropathy postdysenteric arthropathy reactive arthritis venereal arthritis PIRA post-infectious arthritis post-infectious reactive arthropathy reactive arthritis https://rarediseases.info.nih.gov/diseases/5693/reactive-arthritis MONDO:0017377 Preaxial polydactyly-colobomata-intellectual disability syndrome is characterised by growth retardation, intellectual deficit, preaxial polydactyly and colobomatous anomalies. It has been described in one pair of sibs (brother and sister). The mode of transmission is thought to be autosomal recessive. https://github.com/monarch-initiative/mondo/issues/5588 Pfeiffer-Mayer syndrome Pfeiffer Mayer syndrome short stature intellectual disability type I preaxial polydactyly with colobomatous abnormalities short stature mental retardation type I preaxial polydactyly with colobomatous abnormalities preaxial polydactyly-colobomata-intellectual disability syndrome MONDO:0017379 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971. https://github.com/monarch-initiative/mondo/issues/5588 Lundberg syndrome polyneuropathy - intellectual deficit - acromicria - premature menopause polyneuropathy intellectual disability acromicria premature menopause polyneuropathy mental retardation acromicria premature menopause Editor note: awaiting HPO polyneuropathy-intellectual disability-acromicria-premature menopause syndrome MONDO:0017380 Juvenile gastrointestinal polyposis (JIP) is a rare condition characterized by the presence of juvenile hamartomatous polyps in the gastrointestinal (GI) tract. https://github.com/monarch-initiative/mondo/issues/3685 https://github.com/monarch-initiative/mondo/issues/4521 JIP jPS juvenile gastrointestinal polyposis juvenile intestinal polyposis juvenile multiple polyps syndrome juvenile polyposis juvenile polyposis syndrome polyposis, juvenile intestinal PJI polyposis familial of entire gastrointestinal tract polyposis juvenile intestinal juvenile polyposis syndrome MONDO:0017381 Congenital herpes virus infection is a group of anomalies that an infant may present as a result of maternal infection and subsequent foetal infection with herpes virus. This virus causes recurrent cutaneous infections in adults, often involving the lips or the genitalia. Herpes infections in other organs, such as the liver or central nervous system, are less frequent. Simplexvirus caused infectious embryofetopathy Simplexvirus infectious embryofetopathy antenatal herpes simplex virus infection congenital herpes simplex mother-to-child transmission of herpes simplex virus infection congenital herpes simplex infection neonatal HSV infection neonatal herpes simplex neonatal herpes simplex virus infection congenital herpes simplex virus infection https://rarediseases.info.nih.gov/diseases/1486/congenital-herpes-simplex MONDO:0017382 hereditary clubfoot due to 5q31 microdeletion familial clubfoot due to 5q31 microdeletion MONDO:0017383 hereditary clubfoot due to PITX1 point mutation familial clubfoot due to PITX1 point mutation MONDO:0017384 A widespread acute rash characterized by fever and multiple small pustules on a reddish background. AGEP pustular drug eruption toxic pustuloderma acute generalized exanthematous pustulosis MONDO:0017385 A very rare severe form of epilepsy with poor prognosis that usually begins within a few weeks of birth. The seizure activity can appear in multiple locations in the brain or migrate from one region to another during an episode. It results in severe developmental delay. MPSI MMPEI MMPSI MPEI malignant migrating Partial seizures in infancy malignant migrating partial epilepsy of infancy migrating Partial seizures in infancy migrating partial epilepsy of infancy migrating partial seizures of infancy malignant migrating partial seizures of infancy MONDO:0017386 An aggressive malignant mesenchymal neoplasm with skeletal muscle differentiation, occurring in adults and rarely in children. The tumor is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually of the lower extremities. anaplastic rhabdomyosarcoma pleomorphic rhabdomyosarcoma pleomorphic rhabdomyosarcoma, adult type pleomorphic rhabdomyosarcoma MONDO:0017387 An aggressive malignant neoplasm of uncertain differentiation, characterized by the presence of epithelioid cells forming nodular patterns. The nodules often undergo central necrosis, resulting in a pseudogranulomatous growth pattern. It usually occurs in young adults. The most common sites of involvement are the extremities (distal-type epithelioid sarcoma), and less frequently the pelvis, perineum, and genital organs (proximal-type epithelioid sarcoma). ES epithelioid cell sarcoma epithelioid sarcoma epithelioid sarcoma https://rarediseases.info.nih.gov/diseases/10181/epithelioid-sarcoma MONDO:0017388 A rare disease caused by compression of the celiac axis by an abnormally shaped arcuate ligament (the part of the diaphragm in which both pillars join in the midline around the aorta). Patients have recurrent abdominal pain, anorexia and weight loss. The pain is epigastric, and diarrhea or constipation may be present as well. Onset of pain will usually, although not always, be after food intake, and may be associated with nausea and emesis. Other symptoms may include lassitude, exercise intolerance and vomiting. Occasionally, a patient may show an abdominal murmur upon auscultation. Dunbar syndrome celiac trunk compression syndrome MONDO:0017389 Tetrahydrobiopterin-responsive hyperphenylalaninemia/ phenylketonuria (BH4-responsive hyperphenylalaninemia/ phenylketonuria) is a form of phenylketonuria (PKU), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase. BH4-responsive HPA/PKU BH4-responsive hyperphenylalaninemia/phenylketonuria tetrahydrobiopterin-responsive HPA/PKU tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria MONDO:0017391 Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity. GWCD Grayson-Wilbrandt corneal dystrophy MONDO:0017392 Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision. PDCD pre-descemet corneal dystrophy MONDO:0017393 https://github.com/monarch-initiative/mondo/issues/5588 BMRS SBBYS syndrome Say Barber Biesecker Young-Simpson syndrome Young Simpson syndrome blepharophimosis intellectual disability syndromes blepharophimosis mental retardation syndromes blepharophimosis syndrome Ohdo type blepharophimosis - intellectual disability syndrome MONDO:0017394 Ketamine-induced biliary dilatation is an acquired biliary tract disease caused by the abusive consumption of ketamine, which results in the fusiform dilatation of the common bile ducts (CBD) without obstructive lesions or dilatation of the intrahepatic biliary ducts. Possible manifestations of the underlying cholangiopathy include epigastric pain and impaired liver function. Severity of CBD dilatation appears to correlate with the duration of ketamine consumption and the condition has been reported to be reversible in abstinent patients. ketamine-induced biliary dilatation MONDO:0017395 fixed drug eruption fixed pigmented erythema MONDO:0017396 toxic dermatosis MONDO:0017397 constitutional dyserythropoietic anemia MONDO:0017398 3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect), caudal appendage, umbilical hernia/omphalocele and diastasis recti. Malpuech-Michels-Mingarelli-Carnevale syndrome craniofacial-ulnar-renal syndrome oculopalatoskeletal syndrome 3MC syndrome https://rarediseases.info.nih.gov/diseases/1118/3mc-syndrome MONDO:0017399 Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy. RTLA rvFTD frontotemporal dementia, right temporal atrophy variant MONDO:0017400 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated. Mitchell-Riley syndrome hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome MTCHRS diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome MONDO:0017401 familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form familial isolated arrhythmogenic ventricular dysplasia, left dominant form MONDO:0017402 familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form familial isolated arrhythmogenic ventricular dysplasia, biventricular form MONDO:0017403 familial isolated arrhythmogenic ventricular cardiomyopathy, classic form familial isolated arrhythmogenic ventricular cardiomyopathy, right dominant form familial isolated arrhythmogenic ventricular dysplasia, classic form familial isolated arrhythmogenic ventricular dysplasia, right dominant form MONDO:0017404 Distal Xq28 microduplication syndrome is a rare, hereditary, syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism. https://github.com/monarch-initiative/mondo/issues/3492 https://github.com/monarch-initiative/mondo/issues/5588 Xq28 Microduplication distal dup(X)q(28) distal trisomy Xq28 distal Xq28 microduplication syndrome MONDO:0017405 1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. https://github.com/monarch-initiative/mondo/issues/3664 Del(1)p(21.3) monosomy 1p21.3 1p21.3 microdeletion syndrome MONDO:0017406 hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome MONDO:0017407 David syndrome deficiency in anterior pituitary function - variable immunodeficiency syndrome MONDO:0017408 A very rare disorder that appears after the first year and a half of life in previously healthy children. It is characterized by rapid-onset weight gain, hypothalamic dysfunction, breathing abnormalities, and autonomic system dysregulation. The hypothalamic dysfunction manifestations include inability to maintain normal water balance, high prolactin levels, low thyroid, low cortisol, and early or late puberty. The breathing abnormalities include sleep apnea and alveolar hypoventilation, requiring ventilation support. The autonomic system dysregulation includes eye abnormalities, intestinal abnormalities, temperature dysregulation, and low heart rhythm. This disorder requires early recognition because it may lead to cardiorespiratory arrest. Up to 40% of the patients develop tumors of neural crest origin. ROHHAD ROHHAD syndrome ROHHADNET rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumors syndrome rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome MONDO:0017409 An infection with the Cytomegalovirus that is present from birth. antenatal CMV infection antenatal cytomegalovirus infection congenital Cytomegaloviral infection mother-to-child transmission of cytomegalovirus syndrome CMV antenatal infection congenital cytomegalovirus fetal cytomegalovirus syndrome https://rarediseases.info.nih.gov/diseases/1409/cmv-antenatal-infection https://rarediseases.info.nih.gov/diseases/1480/congenital-cytomegalovirus MONDO:0017410 Porencephaly is characterized by a circumscribed intracerebral cavity of variable size that may be bordered by abnormal polymicrogyric grey matter. In extreme cases, this cavity may result in a communication between the pial surface and the ventricle; this is termed schizencephaly. porencephaly https://rarediseases.info.nih.gov/diseases/7430/porencephaly MONDO:0017411 Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis. inflammatory skin and bowel disease, neonatal neonatal inflammatory skin and bowel disease MONDO:0017413 RLS multiple joint dislocations-short stature-hyperlaxity-craniofacial dysmorphism syndrome Reunion island Larsen syndrome MONDO:0017415 pterygium syndrome multiple pterygium syndrome MONDO:0017416 Postpoliomyelitis syndrome (PPS) is a neurologic disorder characterized by the development of new neuromuscular symptoms such as progressive muscular weakness or abnormal muscle fatigability occurring in survivors of the acute paralytic form of poliomyelitis, 15-40 years after recovery from the disease, and that is unexplained by other medical causes. Other manifestations that can occur gradually include generalized fatigue, muscle atrophy, muscle and joint pain, intolerance to cold, and difficulties sleeping, swallowing or breathing. postpolio sequelae postpolio syndrome postpoliomyelitic syndrome postpoliomyelitis sequelae postpoliomyelitis syndrome polio late effects post polio syndrome post-polio muscular atrophy post-polio sequelae post-poliomyelitic syndrome postpoliomyelitis syndrome MONDO:0017417 A rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendancy to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependant diabetes. Ivemark II syndrome Ivemark's syndrome Renohepaticopancreatic dysplasia renal-hepatic-pancreatic dysplasia MONDO:0017418 Chronic intestinal failure (CIF) is a chronic type of intestinal failure characterized by a nonfunctioning small bowel (that may be reversible or irreversal) where the body is unable to maintain energy and nutritional needs through absorption of food or nutrients via the intestinal tract (despite being metabolically stable) and which therefore necessitates long-term parenteral feeding. CIF may be the result of congenital digestive diseases (such as gastroschisis, atresia of small intestine), short bowel syndrome, intra-abdominal or pelvic cancer, or progressive and devastating gastrointestinal or systemic benign diseases (such as Crohn disease). CIF chronic intestinal failure MONDO:0017419 A congenital malformation characterized by the complete absence of all limbs. amelia nonsyndromic amelia isolated amelia non-syndromic amelia MONDO:0017420 intercalary meromelia intercalary limb defects MONDO:0017421 nonsyndromic terminal limb defects terminal limb defects terminal meromelia isolated terminal limb defects non-syndromic terminal limb defects MONDO:0017422 fingers absent adactyly of hand MONDO:0017423 Editor note: Orphanet has this under terminal limb defects (which is a type of non-syndromic defect) which leads to inconsistency when placing syndromic forms (e.g. SHF1 with sensorienural hearing loss) split hand or/and split foot malformation MONDO:0017424 nonsyndromic brachydactyly brachydactyly isolated brachydactyly Editor note: Orphanet calls this brachydactyly, but this is implicitly the non-syndromic form due to placement in the ORDO hierarchy non-syndromic brachydactyly MONDO:0017425 Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers. Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity. preaxial polydactyly of hand preaxial polydactyly of fingers https://rarediseases.info.nih.gov/diseases/12767/preaxial-polydactyly-of-fingers MONDO:0017426 postaxial polydactyly of hand Editor note: check postaxial polydactyly of fingers MONDO:0017427 https://github.com/monarch-initiative/mondo/issues/4069 congenital deformities of limbs MONDO:0017428 https://github.com/monarch-initiative/mondo/issues/4069 congenital deformities of fingers MONDO:0017429 some subtypes may be syndromic eg congenital radioulnar synostosis joint formation defects MONDO:0017430 congenital joint dislocations non-syndromic congenital joint dislocations MONDO:0017431 limb overgrowth non-syndromic limb overgrowth MONDO:0017435 A rare, autosomal dominant inherited syndrome caused by mutations in the IRF6 gene. It is characterized by the presence of cleft palate, cleft lip, pits in the lower lip, web behind the knee (popliteal pterygium), syndactyly, cryptorchidism, scrotal malformation, and hypoplasia of the labia majora. PPS facio-genito-popliteal syndrome Editor notes: DO classifies as autosomal dominant, however there is an autosomal recessive subclass (Bartsocas-Papas). popliteal pterygium syndrome MONDO:0017436 A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. https://github.com/monarch-initiative/mondo/issues/4069 LCCS lethal congenital contracture syndrome MONDO:0017437 A non-syndromic amelia that involves the forelimb. forelimb non-syndromic amelia non-syndromic amelia of forelimb amelia of upper limb MONDO:0017438 A non-syndromic amelia that involves the hindlimb. hindlimb non-syndromic amelia non-syndromic amelia of hindlimb amelia of lower limb MONDO:0017439 total amelia Tetraamelia, autosomal recessive tetra-amelia syndrome tetra-amelia, autosomal recessive tetra-amelia MONDO:0017440 Humeral agenesis/hypoplasia is a rare, non-syndromic limb reduction defect characterized by the unilateral or bilateral presence of a short arm with completely absent or underdeveloped humerus, frequently associated with ulnar and/or radial malformations. Patients may present with the appearance of the forearm directly attached to the shoulder, no articulation at the shoulder joint, impossible passive extension of the arm beyond the mid-axillary line, no elbow joints, bowing of the radius, a short ulna and/or ulnar/radial deviation of the hand at the wrist. congenital absence of humerus congenital hypoplasia of humerus humeral intercalary meromelia humeral agenesis/hypoplasia MONDO:0017441 A congenital malformation in which the upper portion of a limb is either shortened or absent. https://github.com/monarch-initiative/mondo/issues/4069 humero-radio-ulnar intercalary transverse meromelia phocomelia congenital absence of upper arm and forearm with hand present MONDO:0017442 https://github.com/monarch-initiative/mondo/issues/4069 Femorotibiofibular intercalary transverse meromelia congenital absence of thigh and lower leg with foot present MONDO:0017443 Congenital absence of both forearm and hand is a rare developmental defect during embryogenesis characterized by unilateral or bilateral arrest of proximal to distal development of the upper limb, leading to a transverse deficiency with absence of the forearm, wrist and hand. A short below-the-elbow amputation is most commonly observed and the residual limb is usually well cushioned, with rudimentary nubbins or dumpling possibly found on the end. https://github.com/monarch-initiative/mondo/issues/4069 radio-ulnar terminal transverse meromelia congenital absence of both forearm and hand MONDO:0017444 https://github.com/monarch-initiative/mondo/issues/4069 tibiofibular terminal transverse meromelia congenital absence of both lower leg and foot MONDO:0017445 congenital absence of hand acheiria MONDO:0017446 congenital absence of foot apodia MONDO:0017447 Congenital absence/hypoplasia of thumb is a rare developmental defect during embryogenesis characterized by underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb. The malformation may occur isolated, combined to other defects of the hand or upper limb, or as part of a multiple congenital anomaly syndrome. https://github.com/monarch-initiative/mondo/issues/4069 thumb hypodactyly thumb oligodactyly congenital absence/hypoplasia of thumb MONDO:0017448 https://github.com/monarch-initiative/mondo/issues/4069 digits 2-5 hypodactyly digits 2-5 oligodactyly congenital absence/hypoplasia of fingers excluding thumb MONDO:0017449 Split hand is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral or unilateral underdevelopment or absence of the central rays of the autopod, with absence of all or just some of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age. split hand (disease) ectrodactyly of hand split hand split hand (disease) split hand MONDO:0017450 split foot (disease) split foot split foot (disease) split foot MONDO:0017451 A non-syndromic brachydactyly that involves the manus. manus non-syndromic brachydactyly non-syndromic brachydactyly of manus short fingers non-syndromic brachydactyly of fingers MONDO:0017452 A non-syndromic brachydactyly that involves the pes. non-syndromic brachydactyly of pes pes non-syndromic brachydactyly short toes non-syndromic brachydactyly of toes MONDO:0017453 Foetal parvovirus syndrome is a foetopathy likely to occur when a pregnant woman is infected by parvovirus B19. In adults, the virus causes a butterfly erythema infectiosum (also called Fifth Disease; 'slapped cheek disease') and flu-like symptoms with symmetric polyarthralgias, which usually do not warrant prenatal diagnosis. Human parvovirus B19 caused infectious embryofetopathy Human parvovirus B19 infectious embryofetopathy Parvovirus antenatal infection mother-to-child transmission of parvovirus syndrome Maternofetal infection by parvovirus Parvovirus B19 antenatal infection fifth disease fetal parvovirus syndrome MONDO:0017454 Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly. TPT-PS syndrome triphalangeal thumb-polysyndactyly syndrome MONDO:0017455 Hyperphalangy is a congenital, non-syndromic limb malformation characterized by the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hypherphalangy is almost always bilateral and patients present no more than five digits and no other skeletal anomalies. supernumerary phalanges supernumerary phalanx hyperphalangy MONDO:0017456 central polydactyly of hand mesoaxial polydactyly mesoaxial polydactyly of fingers mirror hand central polydactyly central polydactyly of fingers MONDO:0017457 bifid great toes bifid halluces bifid hallux preaxial polydactyly of foot Preaxial polydactyly of toes MONDO:0017460 Syndactyly type 6 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral fusion of second to fifth fingers, amalgamation of distal phalanges in a knot-like structure, and second- and third-toe fusion. Some individuals present only with webbing between second and third toes, without involvement of fingers. mitten hand syndactyly, mitten type unilateral syndactyly of digits 2-5 syndactyly type 6 MONDO:0017461 Familial isolated clinodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by angulation of a digit in the radio-ulnar (coronal) plane, away from the axis of joint flexion-extension, in several members of a single family with no other associated manifestations. Deviation is usually bilateral and commonly involves the fifth finger. Affected digits present trapezoidal or delta-shaped phalanges on imaging. familial isolated clinodactyly of fingers MONDO:0017462 A condition characterized by non-union of the tibia, which is present at birth. It is usually associated with neurofibromatosis type 1. https://github.com/monarch-initiative/mondo/issues/4069 congenital pseudarthrosis of the tibia congenital pseudarthrosis of tibia congenital pseudoarthrosis of the tibia MONDO:0017463 https://github.com/monarch-initiative/mondo/issues/4069 congenital pseudarthrosis of the femur congenital pseudoarthrosis of the femur MONDO:0017464 https://github.com/monarch-initiative/mondo/issues/4069 congenital pseudarthrosis of the fibula congenital pseudoarthrosis of the fibula MONDO:0017465 https://github.com/monarch-initiative/mondo/issues/4069 congenital pseudarthrosis of the radius congenital pseudoarthrosis of the radius MONDO:0017466 https://github.com/monarch-initiative/mondo/issues/4069 congenital pseudarthrosis of the ulna congenital pseudoarthrosis of the ulna MONDO:0017467 Tibio-fibular synostosis is a rare, non-syndromic limb malformation characterized by fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis, frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee. Tibio-fibular fusion tibio-fibular synostosis MONDO:0017468 https://github.com/monarch-initiative/mondo/issues/4069 congenital shoulder dislocation MONDO:0017469 https://github.com/monarch-initiative/mondo/issues/4069 congenital radial head dislocation isolated congenital elbow dislocation isolated congenital radial head dislocation congenital elbow dislocation MONDO:0017470 https://github.com/monarch-initiative/mondo/issues/4069 congenital knee dislocation (disease) congenital knee dislocation congenital knee dislocation (disease) congenital knee dislocation MONDO:0017471 congenital dislocation of the patella congenital patellar dislocation congenital patella dislocation https://rarediseases.info.nih.gov/diseases/9692/congenital-dislocation-of-the-patella MONDO:0017472 patella aplasia/hypoplasia, unilateral MONDO:0017473 patella aplasia/hypoplasia, bilateral MONDO:0017474 macrodactyly of hand Megalodactyly of the hand macrodactyly of the hand megalodactylism of the hand macrodactyly of fingers MONDO:0017475 macrodactyly of foot Megalodactyly of the foot macrodactyly of the foot megalodactylism of the foot macrodactyly of toes MONDO:0017476 upper limb hypertrophy MONDO:0017477 Lower limb hypertrophy is a rare, genetic, non-syndromic developmental defect during embryogenesis characterized by uni- or bilateral overgrowth of lower limbs involving bones and/or soft tissues and resulting in an abnormal increase in leg length and/or width. Hypertrophy presents either as a proportionate overgrowth of entire limb or involves only the proximal or distal parts of it. Phenotype ranges from mild hypertrophy without functional disability to massively hypertrophied limb with knee flexion and ankle equinus contractures and macrodystrophia lipomatosa. Patients may also present vascular abnormalities (e.g. cutaneous angiomas, varicose veins) and myalgia. lower limb hypertrophy MONDO:0017478 amelia of upper limb, unilateral MONDO:0017479 amelia of upper limb, bilateral MONDO:0017480 amelia of lower limb, unilateral MONDO:0017481 amelia of lower limb, bilateral MONDO:0017482 humeral intercalary meromelia, unilateral humeral agenesis/hypoplasia, unilateral MONDO:0017483 humeral intercalary meromelia, bilateral humeral agenesis/hypoplasia, bilateral MONDO:0017484 femoral intercalary meromelia, unilateral femoral agenesis/hypoplasia, unilateral MONDO:0017485 femoral intercalary meromelia, bilateral femoral agenesis/hypoplasia, bilateral MONDO:0017486 radial longitidinal meromelia, unilateral radial hemimelia, unilateral MONDO:0017487 radial longitidinal meromelia, bilateral radial hemimelia, bilateral MONDO:0017488 ulnar longitudinal meromelia, bilateral ulnar hemimelia, bilateral MONDO:0017489 ulnar longitudinal meromelia, unilateral ulnar hemimelia, unilateral MONDO:0017490 tibial longitudinal meromelia, unilateral tibial hemimelia, unilateral MONDO:0017491 tibial longitudinal meromelia, bilateral tibial hemimelia, bilateral MONDO:0017492 fibular longitudinal meromelia, unilateral fibular hemimelia, unilateral MONDO:0017493 fibular longitudinal meromelia, bilateral fibular hemimelia, bilateral MONDO:0017496 https://github.com/monarch-initiative/mondo/issues/4069 Femorotibiofibular intercalary transverse meromelia, unilateral congenital absence of thigh and lower leg with foot present, unilateral MONDO:0017497 https://github.com/monarch-initiative/mondo/issues/4069 Femorotibiofibular intercalary transverse meromelia, bilateral congenital absence of thigh and lower leg with foot present, bilateral MONDO:0017498 Congenital absence of both forearm and hand, unilateral is a rare developmental defect during embryogenesis characterized by a unilateral, transverse absence of the radius and ulna (of varying terminal lengths), as well as all the elements composing the hand. Left or right side may be involved. https://github.com/monarch-initiative/mondo/issues/4069 radio-ulnar terminal transverse meromelia, unilateral congenital absence of both forearm and hand, unilateral MONDO:0017499 Congenital absence of both forearm and hand, bilateral is a rare developmental defect during embryogenesis characterized by a bilateral, transverse absence of the radius and ulna (of varying terminal lengths), as well as all the elements composing the hand. https://github.com/monarch-initiative/mondo/issues/4069 radio-ulnar terminal transverse meromelia, bilateral congenital absence of both forearm and hand, bilateral MONDO:0017500 https://github.com/monarch-initiative/mondo/issues/4069 tibiofibular terminal transverse meromelia, unilateral congenital absence of both lower leg and foot, unilateral MONDO:0017501 https://github.com/monarch-initiative/mondo/issues/4069 tibiofibular terminal transverse meromelia, bilateral congenital absence of both lower leg and foot, bilateral MONDO:0017502 congenital absence of hand, unilateral acheiria, unilateral MONDO:0017503 congenital absence of hand, bilateral acheiria, bilateral MONDO:0017504 congenital absence of foot, unilateral apodia, unilateral MONDO:0017505 congenital absence of foot, bilateral apodia, bilateral MONDO:0017506 Congenital absence/hypoplasia of thumb, unilateral is a rare developmental defect during embryogenesis characterized by the unilateral underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb. https://github.com/monarch-initiative/mondo/issues/4069 thumb hypodactyly, unilateral thumb oligodactyly, unilateral congenital absence/hypoplasia of thumb, unilateral MONDO:0017507 Congenital absence/hypoplasia of thumb, bilateral is a rare developmental defect during embryogenesis characterized by bilateral underdevelopment of the thumbs, ranging from a slight decrease in thumb size to complete absence of the thumbs. This anomaly counts for 20-60% of thumb hypoplasias. https://github.com/monarch-initiative/mondo/issues/4069 thumb hypodactyly, bilateral thumb oligodactyly, bilateral congenital absence/hypoplasia of thumb, bilateral MONDO:0017508 https://github.com/monarch-initiative/mondo/issues/4069 Adactyly of hand, bilateral digits 2-5 hypodactyly, bilateral digits 2-5 oligodactyly, bilateral congenital absence/hypoplasia of fingers excluding thumb, bilateral MONDO:0017509 congenital absence of toes, unilateral adactyly of foot, unilateral MONDO:0017510 congenital absence of toes, bilateral adactyly of foot, bilateral MONDO:0017511 Split hand, unilateral is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by unilateral underdevelopment or absence of the central rays of the autopod, with absence of all, or just some, of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age. split hand, unilateral MONDO:0017512 Split hand, bilateral is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral underdevelopment or absence of the central rays of the autopod, with absence of all, or just some, of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age. split hand, bilateral MONDO:0017513 split foot, unilateral MONDO:0017514 split foot, bilateral MONDO:0017515 short fingers, unilateral brachydactyly of fingers, unilateral MONDO:0017516 short fingers, bilateral brachydactyly of fingers, bilateral MONDO:0017517 short toes, unilateral brachydactyly of toes, unilateral MONDO:0017518 short toes, bilateral brachydactyly of toes, bilateral MONDO:0017519 symbrachydactyly of hand and foot, unilateral MONDO:0017520 symbrachydactyly of hand and foot, bilateral MONDO:0017521 hyperphalangy in digits 2-5 supernumerary phalanges, unilateral supernumerary phalanx, unilateral hyperphalangy, unilateral MONDO:0017522 supernumerary phalanges, bilateral supernumerary phalanx, bilateral hyperphalangy, bilateral MONDO:0017523 preaxial polydactyly type 1, unilateral polydactyly of a biphalangeal thumb, unilateral MONDO:0017524 preaxial polydactyly type 1, bilateral polydactyly of a biphalangeal thumb, bilateral MONDO:0017525 preaxial polydactyly type 2, unilateral unilateral PPD2 polydactyly of a triphalangeal thumb, unilateral MONDO:0017526 bilateral PPD2 preaxial polydactyly type 2, bilateral polydactyly of a triphalangeal thumb, bilateral MONDO:0017527 preaxial polydactyly type 3, unilateral polydactyly of an index finger, unilateral MONDO:0017528 preaxial polydactyly type 3, bilateral polydactyly of an index finger, bilateral MONDO:0017529 preaxial polydactyly type 4, unilateral polysyndactyly, unilateral MONDO:0017530 preaxial polydactyly type 4, bilateral polysyndactyly, bilateral MONDO:0017531 postaxial polydactyly type A, unilateral MONDO:0017532 postaxial polydactyly type A, bilateral MONDO:0017533 postaxial polydactyly type B, unilateral MONDO:0017534 postaxial polydactyly type B, bilateral MONDO:0017535 mesoaxial polydactyly of fingers, unilateral mirror hand, unilateral central polydactyly of fingers, unilateral MONDO:0017536 mesoaxial polydactyly of fingers, bilateral mirror hand, bilateral central polydactyly of fingers, bilateral MONDO:0017537 bifid great toes, unilateral bifid halluces, unilateral bifid hallux, unilateral Preaxial polydactyly of toes, unilateral MONDO:0017538 bifid great toes, bilateral bifid halluces, bilateral bifid hallux, bilateral Preaxial polydactyly of toes, bilateral MONDO:0017543 https://github.com/monarch-initiative/mondo/issues/4948 SD1, Lueken type SD1b Zygodactyly, Lueken type syndactyly type 1, Lueken type syndactyly type 1b zygodactyly type 2 MONDO:0017544 SD1, Montagu type SD1c Zygodactyly, Montagu type syndactyly type 1, Montagu type syndactyly type 1c zygodactyly type 3 MONDO:0017545 SD1, Castilla type SD1d Zygodactyly, Castilla type syndactyly type 1, Castilla type syndactyly type 1d zygodactyly type 4 MONDO:0017546 congenital vertical talus, unilateral MONDO:0017547 congenital vertical talus, bilateral MONDO:0017548 humero-radio-ulnar fusion, unilateral humero-radio-ulnar synostosis, unilateral MONDO:0017549 humero-radio-ulnar fusion, bilateral humero-radio-ulnar synostosis, bilateral MONDO:0017550 humero-radial fusion, unilateral humero-radial synostosis, unilateral MONDO:0017551 humero-radial fusion, bilateral humero-radial synostosis, bilateral MONDO:0017552 humero-ulnar fusion, unilateral humero-ulnar synostosis, unilateral MONDO:0017553 humero-ulnar fusion, bilateral humero-ulnar synostosis, bilateral MONDO:0017554 radio-ulnar fusion, unilateral radio-ulnar synostosis, unilateral MONDO:0017555 radio-ulnar fusion, bilateral radio-ulnar synostosis, bilateral MONDO:0017556 Madelung deformity, unilateral MONDO:0017557 Madelung deformity, bilateral MONDO:0017558 https://github.com/monarch-initiative/mondo/issues/4069 congenital elbow dislocation, unilateral MONDO:0017559 https://github.com/monarch-initiative/mondo/issues/4069 congenital elbow dislocation, bilateral MONDO:0017560 An abnormal alignment of the knee backwards that is due to a deformity in the knee joint. https://github.com/monarch-initiative/mondo/issues/4069 genu recurvatum hyperextension deformity of knee hyperextension of knee deformity congenital genu recurvatum MONDO:0017561 https://github.com/monarch-initiative/mondo/issues/4069 congenital genu flexum MONDO:0017562 https://github.com/monarch-initiative/mondo/issues/4069 congenital patella dislocation, unilateral MONDO:0017563 https://github.com/monarch-initiative/mondo/issues/4069 congenital patella dislocation, bilateral MONDO:0017564 macrodactyly of hand, unilateral macrodactyly of fingers, unilateral MONDO:0017565 macrodactyly of hand, bilateral macrodactyly of fingers, bilateral MONDO:0017566 macrodactyly of foot, unilateral macrodactyly of toes, unilateral MONDO:0017567 macrodactyly of foot, bilateral macrodactyly of toes, bilateral MONDO:0017568 Acrodysplasia scoliosis is a rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984. acrodysplasia scoliosis brachydactyly-scoliosis-carpal fusion syndrome Prata-Liberal-Goncalves syndrome MONDO:0017569 A rare autosomal recessive genetic disorder characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract. De Barsy syndrome cutis laxa-corneal clouding-intellectual disability syndrome progeroid syndrome, De Barsy type autosomal recessive cutis laxa type III corneal clouding, cutis laxa and intellectual disability corneal clouding, cutis laxa and mental retardation cutis laxa growth deficiency syndrome progeroid syndrome of de Barsy progeroid syndrome, de Barsy type de Barsy syndrome MONDO:0017570 Leukocyte adhesion deficiency (LAD) is a primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections. LAD congenital leukocyte adherence deficiency leukocyte adhesion deficiency MONDO:0017571 Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome but who share a multitude of characteristic clinical features of the disease. Cohen-Hayden syndrome Proteus like syndrome intellectual disability eye defect Proteus like syndrome mental retardation eye defect Proteus-like syndrome MONDO:0017572 Tick-borne encephalitis is caused by an arbovirus of the Flaviviridae family (tick-borne encephalitis virus, TBEV), transmitted principally by the bite of the Ixodes ricinus tick. The symptomology is biphasic, with the initial phase being associated with a flu-like illness and the second phase (occurring in less than 10% of patients) with symptoms of meningitis or, more rarely, meningoencephalitis. Far Eastern TBE Russian spring-summer encephalitis Siberian tick-borne encephalitis TBE Tick-borne viral encephalitis Western European tick-borne encephalitis central European encephalitis taiga encephalitis west-Siberian encephalitis tick-borne encephalitis https://rarediseases.info.nih.gov/diseases/5216/tick-borne-encephalitis MONDO:0017573 46,XX disorder of sex development-anorectal anomalies syndrome is a rare developmental defect during embryogenesis syndrome characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), müllerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut. female pseudohermaphroditism-anorectal anomalies syndrome 46,XX disorder of sex development-anorectal anomalies syndrome MONDO:0017574 Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth. chronic intestinal pseudo-obstruction cipo intestinal pseudo-obstruction, chronic chronic intestinal pseudoobstruction https://rarediseases.info.nih.gov/diseases/12744/chronic-intestinal-pseudoobstruction MONDO:0017575 A syndrome characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy. MNGIE Mitochondrial neurogastrointestinal encephalopathy mitochondrial Neurogastrointestingal encephalopathy MNGIE syndrome OGIMD POLIP mitochondrial neurogastrointestinal encephalopathy syndrome myoneurogastrointestinal encephalopathy syndrome oculogastrointestinal muscular dystrophy polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction thymidine phosphorylase deficiency mitochondrial neurogastrointestinal encephalomyopathy https://rarediseases.info.nih.gov/diseases/9920/mitochondrial-neurogastrointestinal-encephalopathy-syndrome MONDO:0017576 Conditions affecting individuals with 46,XX karyotype characterized by atypical development of one or more of the following: the gonads, the internal reproductive structures, the external reproductive/genital structures. 46,XX DSD 46,XX differences of Sex development 46,XX disorders of Sex development female pseudohermaphroditism 46,XX disorder of sex development MONDO:0017577 Spontaneous periodic hypothermia (SPH) is a neurological disorder characterized by spontaneous periodic hypothermia and hyperhidrosis in the absence of hypothalamic lesions. Shapiro syndrome episodic spontaneous hypothermia Shapiro's syndrome recurrent spontaneous hypothermia with hypoplasia of the corpus callosum spontaneous periodic hypothermia syndrome spontaneous recurrent hypothermia syndrome spontaneous periodic hypothermia MONDO:0017578 disorder of thiamine metabolism and transport MONDO:0017579 Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA)) corresponds to the appearance of BWS in elderly patients. Baraitser-winter syndrome BRWS Fryns-Aftimos syndrome cerebro-frontofacial syndrome, type 3 iris coloboma with ptosis hypertelorism and intellectual disability iris coloboma with ptosis hypertelorism and mental retardation trigonocephaly ptosis coloboma trigonocephaly ptosis intellectual disability trigonocephaly ptosis mental retardation Baraitser-Winter cerebrofrontofacial syndrome https://rarediseases.info.nih.gov/diseases/5279/baraitser-winter-syndrome MONDO:0017580 11p15.4 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities. https://github.com/monarch-initiative/mondo/issues/3492 dup(11)p(15.4) trisomy 11p15.4 11p15.4 microduplication syndrome MONDO:0017581 X-LAG (X-linked acrogigantism) hereditary infantile gigantism hereditary pituitary hyperplasia infantile gigantism due to pituitary hyperplasia familial infantile gigantism MONDO:0017582 A rare adenocarcinoma with poor prognosis, arising from the adenohypophysial cells of the anterior lobe of the pituitary gland or pre-existing adenomas. The majority are hormonally functioning neoplasms, usually producing prolactin or ACTH. The diagnosis is based on the presence of metastases. Syndromes associated with pituitary gland carcinomas include hyperprolactinemia, Cushing disease, and acromegaly. pituitary adenocarcinoma (disease) cancer of pituitary cancer of pituitary gland cancer of the pituitary cancer of the pituitary gland pituitary gland cancer carcinoma of pituitary carcinoma of pituitary gland carcinoma of the pituitary carcinoma of the pituitary gland pituitary adenocarcinoma (disease) pituitary carcinoma pituitary gland adenocarcinoma pituitary gland carcinoma PTCA pituitary adenocarcinoma MONDO:0017583 Mirror polydactyly-vertebral segmentation-limbs defects syndrome is characterised by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene. mirror polydactyly-vertebral segmentation-limbs defects syndrome MONDO:0017584 A rare bone disease that arises due to secondary hyperparathyroidism in patients with chronic renal failure receiving dialysis characterized by 'uglifying' the appearance of the face Sagliker syndrome MONDO:0017585 multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus painful orbital and systemic neurofibromas-marfanoid habitus syndrome https://rarediseases.info.nih.gov/diseases/11006/painful-orbital-and-systemic-neurofibromas-marfanoid-habitus-syndrome MONDO:0017586 Onychocytic matricoma is a rare tumor of the nail that is generally benign. Affected people often experience thickening of the involved portion of the nail. The tumor may be pigmented (melanonychia - a black or brown pigmentation of the normal nail plate) or non-pigmented. The exact underlying cause of onychocytic matricoma is currently unknown. It generally occurs sporadically in people with no family history of the condition. Treatment generally consists of surgical excision. acanthoma of the nail matrix onychocytic matricoma https://rarediseases.info.nih.gov/diseases/11007/onychocytic-matricoma MONDO:0017587 A neoplasm involving a UBERON:0002283. nail matrix neoplasm nail matrix tumor neoplasm of nail matrix tumor of nail matrix onychomatricoma MONDO:0017588 A neoplasm involving a nail. nail neoplasm nail neoplasm (disease) nail tumor neoplasm of nail tumor of nail rare nail tumor nail tumor MONDO:0017589 Follicular cholangitis and pancreatitis is a rare pancreatobiliary disease characterized by marked duct-centered lymphoid follicular inflammation that develops in both biliary and pancreatic ductal systems, mainly affecting the hilar bile ducts and the pancreatic head. Patients present with jaundice, abdominal pain, liver dysfunction, pruritus and/or weight loss. Histology shows lymphoplasmacytic infiltration with formation of numerous, large lymphpoid follicles around the affected bile and pancreatic ducts. follicular pancreatocholangitis follicular cholangitis and pancreatitis MONDO:0017590 A carcinoma arising from the ampulla of Vater. The vast majority of cases are adenocarcinomas. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss. Ampulloma ampulla of Vater cancer ampulla of Vater carcinoma ampullary cancer ampullary carcinoma carcinoma of ampulla of vater carcinoma of hepatopancreatic ampulla hepatopancreatic ampulla carcinoma AMPCA carcinoma of the ampulla of vater MONDO:0017591 CPFE combined pulmonary fibrosis-emphysema syndrome MONDO:0017592 staphylococcal toxemia MONDO:0017593 Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age. JALS juvenile Charcot disease juvenile Lou Gehrig disease amyotrophic lateral sclerosis, juvenile juvenile amyotrophic lateral sclerosis https://rarediseases.info.nih.gov/diseases/11901/juvenile-amyotrophic-lateral-sclerosis MONDO:0017594 indolent B-cell NHL B cell lymphoma, indolent indolent B cell lymphoma indolent B-cell non-Hodgkin lymphoma https://rarediseases.info.nih.gov/diseases/10482/indolent-B-cell-lymphoma MONDO:0017595 aggressive B-cell NHL aggressive B-cell non-Hodgkin lymphoma MONDO:0017596 A diffuse large B-cell lymphoma arising from the central nervous system. CNS DLBCL DLBCL of the CNS central nervous system diffuse large B-cell lymphoma diffuse large B-cell lymphoma of central nervous system primary DLBCL of the CNS primary diffuse large B-cell lymphoma of the central nervous system diffuse large B-cell lymphoma of the central nervous system MONDO:0017597 T-cell/histiocyte rich large B cell lymphoma (THRLBCL) is a rare variant of diffuse large B-cell lymphoma (DLBCL), mainly affecting middle-aged men and often not being discovered until an advanced disease stage, with involvement of the spleen, liver and bone marrow occurring at a greater frequency than in DLBCL. It is often difficult to diagnose due to its similarity with other lymphoid diseases such as classic Hodgkin lymphoma and nodular lymphocyte-predominant Hodgkin lymphoma and has an aggressive clinical course. T-cell rich/histiocyte-rich large B-cell lymphoma T-cell/histiocyte rich lymphoma T-cell/histiocyte-rich large B-cell lymphoma THRLBCL T-cell/histiocyte rich large B cell lymphoma https://rarediseases.info.nih.gov/diseases/12257/t-cellhistiocyte-rich-large-B-cell-lymphoma MONDO:0017598 Primary cutaneous anaplastic large cell lymphoma (C-ALCL) is a rare T-cell non-Hodgkin lymphoma that affects the skin and generally shows no extracutaneous involvement at presentation. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders along with lymphomatoid papulosis with which it shares overlapping clinical and histopathologic features. ALCL, cutaneous C-ALCL anaplastic large-cell lymphoma, primary cutaneous type primary C-ALCL primary anaplastic large cell lymphoma of skin primary anaplastic large cell lymphoma of the skin primary cutaneous CD30 Positive anaplastic large cell lymphoma primary cutaneous CD30+ ALCL primary cutaneous CD30+ anaplastic large cell lymphoma regressive atypical histiocytosis primary cutaneous anaplastic large cell lymphoma MONDO:0017599 Splenic diffuse red pulp small B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal proliferation of small, monomorphous, basophilic B-lymphocytes, with villous cytoplasm, in the splenic red pulp, bone marrow and peripheral blood. It typically presents in the late clinical stages with splenomegaly and moderate lymphocytosis. Cytopenias are rare and likely associated with hypersplenism. SDRPL splenic diffuse red pulp lymphoma splenic diffuse red pulp small B-cell lymphoma MONDO:0017600 Hairy Cell Leukemia variant (HCL-V) is defined as a rare and indolent form of small, mature, B-cell leukemia characterized by splenomegaly, an elevated white blood cell (WBC) count and hyper-cellular bone marrow. HCL-V is more aggressive and resistant to therapy than classical HCL (HCL-C). HCL-V HCL-v hairy cell leukaemia variant hairy cell leukemia variant leukemic reticuloendotheliosis variant prolymphocytic variant of HCL prolymphocytic variant of hairy cell leukemia hairy cell leukemia variant MONDO:0017601 Diffuse large B-cell lymphoma with chronic inflammation is an Epstein-Barr virus-associated malignant lymphoproliferative disorder, developing in a context of long-standing or slow-growing, chronically inflamed lesions, such as chronic pyothorax, metallic implants in bones and joints, chronic osteomyelitis, chronic venous ulcer, or, rarely granulomatous inflammation. The tumor is usually primarily localized, with no involvement of other organs. DLBCL with chronic inflammation diffuse large B-cell lymphoma with chronic inflammation MONDO:0017602 ALK-positive anaplastic large cell lymphoma (ALK+ ALCL) is a type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the expression of a protein called anaplastic lymphoma kinase (ALK). ALCL, ALK+ ALK+ ALCL ALK+ anaplastic large cell lymphoma ALK-positive anaplastic large cell lymphoma ALKoma anaplastic large cell lymphoma, ALK-positive ALK-positive anaplastic large cell lymphoma MONDO:0017603 ALK-negative anaplastic large cell lymphoma (ALK- ALCL) is a type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the lack of expression of a protein called anaplastic lymphoma kinase (ALK). ALCL, ALK- ALK- ALCL ALK- anaplastic large cell lymphoma ALK-negative anaplastic large cell lymphoma anaplastic large cell lymphoma, ALK-negative ALK-negative anaplastic large cell lymphoma MONDO:0017604 A usually indolent mature B-cell lymphoma, arising from the marginal zone of lymphoid tissues. It is characterized by the presence of small to medium sized atypical lymphocytes. It comprises three entities, according to the anatomic sites involved: extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue, which affects extranodal sites (most often stomach, lung, skin, and ocular adnexa); nodal marginal zone B-cell lymphoma, which affects lymph nodes without evidence of extranodal disease; and splenic marginal zone B-cell lymphoma, which affects the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood. MZBCL MZL lymphoma of marginal zone B cell marginal zone B cell lymphoma marginal zone B-cell lymphoma marginal zone lymphoma marginal zone lymphoma MONDO:0017607 Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine. caudal dysplasia sacral agenesis syndrome sacral regression syndrome caudal regression sequence MONDO:0017609 Renal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia arthrogryposis and limb positioning defects), and skull ossification defects. It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS) or inherited in an autosomal recessive manner. primitive renal tubule syndrome renotubular dysgenesis renal tubular dysgenesis MONDO:0017610 Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma. EBS EEB epidermolysis bullosa simplex epidermolysis bullosa intraepidermic epidermolysis bullosa simplex https://rarediseases.info.nih.gov/diseases/10752/epidermolysis-bullosa-simplex MONDO:0017611 A benign or malignant neoplasm affecting the pituitary gland. The vast majority are adenomas arising from the anterior lobe of the pituitary gland. neoplasm of pituitary neoplasm of pituitary gland neoplasm of the pituitary neoplasm of the pituitary gland pituitary gland neoplasm pituitary gland tumor pituitary neoplasm pituitary tumor tumor of pituitary tumor of pituitary gland tumor of the pituitary tumor of the pituitary gland pituitary tumor MONDO:0017612 Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation. EBJ JEB congenital junctional epidermolysis bullosa epidermolysis bullosa atrophicans junctional epidermolysis bullosa epidermolysis bullosa hereditaria letalis epidermolysis bullosa, junctional junctional epidermolysis bullosa https://rarediseases.info.nih.gov/diseases/2152/junctional-epidermolysis-bullosa MONDO:0017613 https://github.com/monarch-initiative/mondo/issues/5588 Medrano-Roldan syndrome Medrano Roldan syndrome intellectual disability-hypotonia-skin hyperpigmentation syndrome https://rarediseases.info.nih.gov/diseases/3441/medrano-roldan-syndrome MONDO:0017614 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982. https://github.com/monarch-initiative/mondo/issues/5588 Young-Hughes syndrome Sex-linked intellectual disability, short stature, obesity and hypogonadism Sex-linked mental retardation, short stature, obesity and hypogonadism X-linked intellectual disability - short stature – obesity X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome MONDO:0017615 Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life. BFIC BFIE BFIS benign familial infantile convulsion benign familial infantile convulsions benign familial infantile seizures seizures, benign familial infantile benign familial infantile epilepsy MONDO:0017616 https://github.com/monarch-initiative/mondo/issues/5588 X-linked intellectual disability, Schutz type MONDO:0017617 A acquired immunodeficiency that occurs in an adult. acquired immunodeficiency of adults adult acquired immunodeficiency adult-onset immunodeficiency with anti-interferon-gamma autoantibodies adult onset immunodeficiency syndrome adult-onset immunodeficiency due to anti-interferon-gamma autoantibody adult-onset immunodeficiency with acquired Anti-interferon-gamma autoantibodies anti-IFN-gamma autoantibody syndrome acquired adult-onset immunodeficiency MONDO:0017618 https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4985 CSID with starch intolerance congenital sucrase-isomaltose malabsorption with starch intolerance congenital sucrose intolerance with starch intolerance disaccharide intolerance with starch intolerance congenital sucrase-isomaltase deficiency with starch intolerance MONDO:0017619 https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4985 CSID with minimal starch tolerance congenital sucrase-isomaltose malabsorption with minimal starch tolerance congenital sucrose intolerance with minimal starch tolerance disaccharide intolerance with minimal starch tolerance congenital sucrase-isomaltase deficiency with minimal starch tolerance MONDO:0017620 https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4985 CSID without starch intolerance congenital sucrase-isomaltose malabsorption without starch intolerance congenital sucrose intolerance without starch intolerance disaccharide intolerance without starch intolerance congenital sucrase-isomaltase deficiency without starch intolerance MONDO:0017621 https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4985 CSID with starch and lactose intolerance congenital sucrase-isomaltose malabsorption with starch and lactose intolerance congenital sucrose intolerance with starch and lactose intolerance disaccharide intolerance with starch and lactose intolerance congenital sucrase-isomaltase deficiency with starch and lactose intolerance MONDO:0017622 https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4985 CSID without sucrose intolerance congenital sucrose-isomaltose malabsorption without sucrose intolerance disaccharide intolerance without sucrose intolerance congenital sucrase-isomaltase deficiency without sucrose intolerance MONDO:0017623 A group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome belong to PHTS. PHTS PTEN hamartoma tumor syndrome PTEN hamartoma tumor syndrome https://rarediseases.info.nih.gov/diseases/12800/pten-hamartoma-tumor-syndrome MONDO:0017624 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN). FHHNC Michellis-Castrillo syndrome familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis https://rarediseases.info.nih.gov/diseases/9891/familial-primary-hypomagnesemia-with-hypercalciuria-and-nephrocalcinosis MONDO:0017625 familial primary hypomagnesemia with hypocalcuria MONDO:0017626 Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type. familial primary hypomagnesemia with normocalcuria MONDO:0017627 Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. congenital hereditary facial palsy with variable deafness congenital hereditary facial palsy with variable hearing loss congenital hereditary facial paralysis with variable deafness congenital hereditary facial paralysis-variable deafness syndrome congenital hereditary facial paralysis-variable hearing loss syndrome MONDO:0017628 spherulocytosis subcutaneous spherulocystic disease myospherulosis MONDO:0017629 sodium channelopathy-related small fiber neuropathy MONDO:0017630 An X-linked form of L1 syndrome characterized by spastic paraplegia, mild to moderate intellectual disability, normal MRI of the brain. SPG1 X-linked complicated spastic paraplegia type 1 MONDO:0017634 non-infectious iridocyclitis non-infectious anterior uveitis MONDO:0017636 Hemiparkinsonism-hemiatrophy syndrome is a rare parkinsonian disorder characterized by unilateral body atrophy and slowly progressive, ipsilateral hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantars are frequently associated. Hp-HA syndrome hemiparkinsonism-hemiatrophy syndrome MONDO:0017638 Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include confusion; hallucinations; and an extrapyramidal syndrome (parkinson disease, secondary) that includes rigidity; dystonia; retropulsion; and tremor. (Adams, Principles of Neurology, 6th ed, p1213) Manganism manganese intoxication manganese poisoning MONDO:0017639 CO-induced parkinsonism carbon monoxide-induced parkinsonism MONDO:0017640 Cyanide-induced parkinsonism is a rare parkinsonian syndrome due to intoxication which develops in individuals surviving an acute cyanide intoxication episode or due to chronic exposure to small cyanide doses. It presents several weeks after acute exposure with progressive typical clinical features of parkinsonism including bradykinesia, rigidity, dystonia, hypomimia, hypokinetic dysarthria, postural instability and retropulsion but no resting or postural tremor. Brain MRI reveals bilateral lesions in the pallidum, posterior putamen, substantia nigra, subthalamic nucleus, temporal and occipital cortex, and cerebellum. cyanide-induced parkinsonism MONDO:0017642 https://github.com/monarch-initiative/mondo/issues/5588 intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome MONDO:0017648 A neurological disorder characterized by rapid, jerky, irregular, and involuntary movements (chorea), especially of the face and limbs. Additional symptoms may include muscle weakness, slurred speech, headaches, and seizures. Sydenham chorea MONDO:0017649 Hemidystonia-hemiatrophy (HD-HA) is a rare dystonia, usually caused by a static cerebral injury occurring at birth or during infancy, that is characterized by a combination of hemidystonia (HD), involving one half of the body, and hemiatrophy (HA) on the same side as the HD. HD-HA syndrome hemidystonia-hemiatrophy syndrome MONDO:0017651 primary myoclonus MONDO:0017656 motor stereotypies MONDO:0017658 A neurologic disorder classically characterised by pronounced startle responses to tactile or acoustic stimuli and hypertonia hyperekplexia MONDO:0017659 sporadic hyperekplexia MONDO:0017666 Palmoplantar keratoderma that diffusely involves most of the palm and sole and is caused by a genetic abnormality. diffuse PPK diffuse keratosis palmoplantaris diffuse palmoplantar hyperkeratosis diffuse palmoplantar keratoderma MONDO:0017667 A diffuse palmoplantar keratoderma that is not part of a larger syndrome. isolated diffuse PPK isolated diffuse keratosis palmoplantaris isolated diffuse palmoplantar hyperkeratosis nonsyndromic diffuse palmoplantar keratoderma isolated diffuse palmoplantar keratoderma MONDO:0017668 Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability affecting males characterized by short stature, mild to moderate intellectual deficits, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia present only until the age of 2. There have been no further descriptions in the literature since the original article in 1991 and it has been suggested that this condition represents an example of FG syndrome. https://github.com/monarch-initiative/mondo/issues/5588 Stoll-GC)raudel-Chauvin syndrome Stoll-Géraudel-Chauvin syndrome intellectual deficit - short stature - hypertelorism intellectual disability short stature hypertelorism mental retardation short stature hypertelorism intellectual disability-short stature-hypertelorism syndrome https://rarediseases.info.nih.gov/diseases/3514/intellectual-deficit---short-stature---hypertelorism MONDO:0017670 autosomal dominant diffuse mutilating palmoplantar hyperkeratosis autosomal dominant diffuse mutilating palmoplantar keratoderma MONDO:0017672 focal PPK focal keratosis palmoplantaris focal palmoplantar hyperkeratosis focal palmoplantar keratoderma MONDO:0017673 A focal palmoplantar keratoderma that is not part of a larger syndrome. isolated focal PPK isolated focal keratosis palmoplantaris isolated focal palmoplantar hyperkeratosis nonsyndromic focal palmoplantar keratoderma isolated focal palmoplantar keratoderma MONDO:0017675 A palmoplantar keratosis characterized by keratoses with a "raindrop" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution. punctate PPK punctate keratosis palmoplantaris punctate palmoplantar hyperkeratosis punctate palmoplantar keratoderma MONDO:0017676 marginal papular palmoplantar hyperkeratosis marginal papular palmoplantar keratoderma MONDO:0017677 PPKP3 without elastoidosis PPPK3 without elastoidosis punctate palmoplantar hyperkeratosis type 3 without elastoidosis punctate palmoplantar keratoderma type 3 without elastoidosis focal acral hyperkeratosis MONDO:0017681 A type of erythrokeratoderma characterized by the association of hyperkeratosis and erythema in persistent, although sometimes variable, circumscribed lesions. Progressive symmetric erythrokeratoderma (PSEK) and erythrokeratoderma variabilis (EKV) are probably no longer two distinctive diseases but rather the two clinical manifestations of a same disease, now known as EKVP. erythrokeratoderma variabilis progressiva MONDO:0017682 Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognatism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported. https://github.com/monarch-initiative/mondo/issues/5588 Kozlowski-Krajewska syndrome intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, unusual face, uncombable hair mental retardation, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, unusual face, uncombable hair intellectual disability-polydactyly-uncombable hair syndrome MONDO:0017683 functional methionine synthase deficiency type cblDv1 methylcobalamin deficiency type cblDv1 MONDO:0017684 disorder of beta and omega amino acid metabolism MONDO:0017685 vitamin B12-responsive methylmalonic aciduria, type cblDv2 vitamin B12-responsive methylmalonic acidemia, type cblDv2 MONDO:0017686 An inherited metabolic disease that is has its basis in the disruption of aminoacylase activity. inborn aminoacylase activity disorder inborn error of aminoacylase activity rare inborn error of aminoacylase activity aminoacylase deficiency inborn aminoacylase deficiency MONDO:0017687 An inherited metabolic disease that is has its basis in the disruption of neutral amino acid transport. inborn error of neutral amino acid transport inborn neutral amino acid transport disorder rare inborn error of neutral amino acid transport disorder of neutral amino acid transport MONDO:0017688 https://github.com/monarch-initiative/mondo/issues/4985 disorder of glycolysis MONDO:0017689 disorder of fructose metabolism MONDO:0017690 disorder of galactose metabolism MONDO:0017691 https://github.com/monarch-initiative/mondo/issues/4985 erythrocyte GALE deficiency erythrocyte GALE-D erythrocyte UDP-galactose-4-epimerase deficiency erythrocyte epimerase deficiency galactosemia erythrocyte uridine diphosphate galactose-4-epimerase deficiency erythrocyte galactose epimerase deficiency MONDO:0017692 https://github.com/monarch-initiative/mondo/issues/4985 generalized GALE deficiency generalized GALE-D generalized UDP-galactose-4-epimerase deficiency generalized epimerase deficiency galactosemia generalized uridine diphosphate galactose-4-epimerase deficiency generalized galactose epimerase deficiency MONDO:0017694 Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal. GSD due to acid maltase deficiency, infantile onset GSD type 2, infantile onset GSD type II, infantile onset Pompe disease, infantile onset alpha-1,4-glucosidase acid deficiency, infantile onset glycogen storage disease type 2, infantile onset glycogen storage disease type II, infantile onset glycogenosis due to acid maltase deficiency, infantile onset glycogenosis type 2, infantile onset glycogenosis type II, infantile onset glycogen storage disease due to acid maltase deficiency, infantile onset MONDO:0017695 https://github.com/monarch-initiative/mondo/issues/4985 GBE deficiency, progressive hepatic form GSD due to glycogen branching enzyme deficiency, progressive hepatic form GSD type 4, progressive hepatic form GSDIV, progressive hepatic form glycogen storage disease type 4, progressive hepatic form glycogen storage disease type IV, progressive hepatic form glycogenosis due to glycogen branching enzyme deficiency, progressive hepatic form glycogenosis type 4, progressive hepatic form glycogenosis type IV, progressive hepatic form glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form MONDO:0017696 https://github.com/monarch-initiative/mondo/issues/4985 GBE deficiency, non progressive hepatic form GSD due to glycogen branching enzyme deficiency, non progressive hepatic form GSD type 4, non progressive hepatic form GSDIV, non progressive hepatic form glycogen storage disease type 4, non progressive hepatic form glycogen storage disease type IV, non progressive hepatic form glycogenosis due to glycogen branching enzyme deficiency, non progressive hepatic form glycogenosis type 4, non progressive hepatic form glycogenosis type IV, non progressive hepatic form glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form MONDO:0017697 https://github.com/monarch-initiative/mondo/issues/4985 GBE deficiency, fatal perinatal neuromuscular form GSD due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form GSD type 4, fatal perinatal neuromuscular form GSDIV, fatal perinatal neuromuscular form glycogen storage disease type 4, fatal perinatal neuromuscular form glycogen storage disease type IV, fatal perinatal neuromuscular form glycogenosis due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form glycogenosis type 4, fatal perinatal neuromuscular form glycogenosis type IV, fatal perinatal neuromuscular form glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form MONDO:0017698 https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4985 GBE deficiency, congenital neuromuscular form GSD due to glycogen branching enzyme deficiency, congenital neuromuscular form GSD type 4, congenital neuromuscular form GSDIV, congenital neuromuscular form glycogen storage disease type 4, congenital neuromuscular form glycogen storage disease type IV, congenital neuromuscular form glycogenosis due to glycogen branching enzyme deficiency, congenital neuromuscular form glycogenosis type 4, congenital neuromuscular form glycogenosis type IV, congenital neuromuscular form glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form MONDO:0017699 https://github.com/monarch-initiative/mondo/issues/4985 GBE deficiency, childhood combined hepatic and myopathic form GSD due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form GSD type 4, childhood combined hepatic and myopathic form GSDIV, childhood combined hepatic and myopathic form glycogen storage disease type 4, childhood combined hepatic and myopathic form glycogen storage disease type IV, childhood combined hepatic and myopathic form glycogenosis due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form glycogenosis type 4, childhood combined hepatic and myopathic form glycogenosis type IV, childhood combined hepatic and myopathic form glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form MONDO:0017700 https://github.com/monarch-initiative/mondo/issues/4985 GBE deficiency, childhood neuromuscular form GSD due to glycogen branching enzyme deficiency, childhood neuromuscular form GSD type 4, childhood neuromuscular form GSDIV, childhood neuromuscular form glycogen storage disease type 4, childhood neuromuscular form glycogen storage disease type IV, childhood neuromuscular form glycogenosis due to glycogen branching enzyme deficiency, childhood neuromuscular form glycogenosis type 4, childhood neuromuscular form glycogenosis type IV, childhood neuromuscular form glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form MONDO:0017701 https://github.com/monarch-initiative/mondo/issues/4985 GBE deficiency, adult neuromuscular form GSD due to glycogen branching enzyme deficiency, adult neuromuscular form GSD type 4, adult neuromuscular form GSDIV, adult neuromuscular form glycogen storage disease type 4, adult neuromuscular form glycogen storage disease type IV, adult neuromuscular form glycogenosis due to glycogen branching enzyme deficiency, adult neuromuscular form glycogenosis type 4, adult neuromuscular form glycogenosis type IV, adult neuromuscular form glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form MONDO:0017703 https://github.com/monarch-initiative/mondo/issues/2632 disorder of glyoxylate metabolism disorder of glyoxylate metabolism MONDO:0017704 An instance of partial epilepsy that is caused by an inherited modification of the individual's genome. hereditary partial epilepsy epilepsy, partial, familial familial partial epilepsy https://rarediseases.info.nih.gov/diseases/2173/epilepsy-partial-familial MONDO:0017705 Congenital pulmonary venous return anomaly is a cardiac malformation where some or all of the pulmonary veins drain into the right atrium or the systemic veins, with or without the presence of pulmonary venous obstruction, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure. The two main subtypes are congenital partial pulmonary venous return anomaly (PAPVC), where one or a few of the pulmonary veins are anomalous, and congenital total pulmonary venous return anomaly (TAPVC), where all of the pulmonary veins are anomalous. https://github.com/monarch-initiative/mondo/issues/4069 congenital pulmonary venous connection anomaly APVR TAPVR TAPVR1 anomalous pulmonary venous return pulmonary venous return anomaly scimitar anomaly scimitar syndrome total anomalous pulmonary venous return congenital pulmonary venous return anomaly MONDO:0017706 https://github.com/monarch-initiative/mondo/issues/4985 disorder of carbohydrate absorption and transport disorder of carbohydrate transmembrane transport and absorption MONDO:0017708 mevalonate kinase deficiency MONDO:0017709 disorder of lipid absorption and transport MONDO:0017710 https://github.com/monarch-initiative/mondo/issues/4069 congenital systemic veins anomaly MONDO:0017711 pancreatic colipase deficiency MONDO:0017712 A disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990. combined pancreatic lipase-colipase deficiency MONDO:0017713 disorder of fatty acid oxidation and ketogenesis MONDO:0017714 acyl-CoA dehydrogenase deficiency MONDO:0017715 3-hydroxyacyl-CoA dehydrogenase deficiency MONDO:0017716 disorder of carnitine cycle and carnitine transport MONDO:0017719 A group of autosomal recessive lysosomal storage disorders marked by the accumulation of gangliosides. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the lysosomes. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway. gangliosidosis MONDO:0017720 A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS. GM>2< gangliosidosis gangliosidosis GM2 GM2-gangliosidosis, B, B1, AB variant GM2 gangliosidosis MONDO:0017721 Hexosaminidases A and B deficiency, infantile form infantile GM2 gangliosidosis 0 variant Sandhoff disease, infantile form MONDO:0017722 Hexosaminidases A and B deficiency, juvenile form juvenile GM2 gangliosidosis 0 variant Sandhoff disease, juvenile form MONDO:0017723 A Sandhoff disease that occurs in an adult. Hexosaminidases A and B deficiency, adult form Sandhoff disease of adults adult GM2 gangliosidosis 0 variant adult Sandhoff disease Sandhoff disease, adult form MONDO:0017724 GM2 gangliosidosis, B variant, infantile form hexosaminidase A deficiency, infantile form Tay-Sachs disease, b variant, infantile form MONDO:0017725 GM2 gangliosidosis, B variant, juvenile form hexosaminidase A deficiency, juvenile form Tay-Sachs disease, b variant, juvenile form MONDO:0017726 GM2 gangliosidosis, B variant, adult form hexosaminidase A deficiency, adult form Tay-Sachs disease, b variant, adult form MONDO:0017727 Fixed subaortic stenosis (FSS) is a rare heart malformation characterized by the obstruction by membranous or fibromuscular tissue of the left ventricular outflow tract (LVOT) below the aortic valve, that occurs as an isolated lesion or in association with additional cardiac malformations (e.g. ventricular septal defect, patent ductus arteriosus, coarctation of the aorta), that presents in childhood with signs of LVOT obstruction (e.g. dyspnea, chest pain, syncope, palpitations) and that can potentially lead to life-threatening complications (e.g. aortic regurgitation, infective endocarditis). It comprises three anatomical subforms: discrete fixed membranous subaortic stenosis (membranous tissue encircling the LVOT), discrete fibromuscular subaortic stenosis (fibromuscular tissue encircling the LVOT) and tunnel subaortic stenosis (fibromuscular diffuse tunnel-like narrowing of the LVOT), the two latter forms being generally more severe than the membranous form. fixed subaortic stenosis MONDO:0017728 GM2 gangliosidosis, B1 variant hexosaminidase A deficiency, B1 variant Tay-Sachs disease, B1 variant MONDO:0017729 MLD, late infantile form arylsulfatase A deficiency, late infantile form metachromatic leukodystrophy, late infantile form MONDO:0017730 MLD, adult form arylsulfatase A deficiency, adult form metachromatic leukodystrophy, adult form MONDO:0017731 See https://github.com/monarch-initiative/monarch-disease-ontology/issues/227 glycoproteinosis https://rarediseases.info.nih.gov/diseases/10670/glycoproteinosis MONDO:0017732 lysosomal alpha-D-mannosidase deficiency, infantile form alpha-mannosidosis, infantile form MONDO:0017733 lysosomal alpha-D-mannosidase deficiency, adult form Alpha-mannosidosis adult-onset form alpha-mannosidosis, adult form MONDO:0017734 Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations. sialidosis MONDO:0017735 https://github.com/monarch-initiative/mondo/issues/4069 congenital aortic valve stenosis MONDO:0017736 disorder of sialic acid metabolism MONDO:0017737 https://github.com/monarch-initiative/mondo/issues/4985 Intermediate Salla disease intermediate severe Salla disease https://rarediseases.info.nih.gov/diseases/10871/intermediate-severe-salla-disease MONDO:0017738 lysosomal glycogen storage disease MONDO:0017739 disorder of lysosomal-related organelles MONDO:0017740 A disease that has its basis in the disruption of protein N-linked glycosylation. disorder of protein N-linked glycosylation protein N-linked glycosylation disease disorder of protein N-glycosylation MONDO:0017741 A disease that has its basis in the disruption of protein O-linked glycosylation. disorder of protein O-linked glycosylation protein O-linked glycosylation disease disorder of protein O-glycosylation MONDO:0017742 disorder of O-xylosylglycan synthesis MONDO:0017743 disorder of O-N-acetylgalactosaminylglycan synthesis MONDO:0017744 disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis MONDO:0017745 disorder of O-mannosylglycan synthesis MONDO:0017746 A neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT). https://github.com/monarch-initiative/mondo/issues/3680 Rett syndrome variant atypical RTT Rett like syndrome atypical Rett syndrome MONDO:0017747 disorder of fucoglycosan synthesis MONDO:0017748 disorder of glycosphingolipid and GPI-anchored proteins glycosylation disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation MONDO:0017749 disorder of multiple glycosylation MONDO:0017750 defect in COG complex defect in conserved oligomeric Golgi complex MONDO:0017752 defect in V-ATPase MONDO:0017754 An inherited metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process. disorder of porphyrin and haem metabolism inborn disorder of porphyrin and haem metabolism inborn error of porphyrin-containing compound metabolic process inborn porphyrin-containing compound metabolic process disorder inherited disorder of porphyrin metabolism rare inborn error of porphyrin-containing compound metabolic process Editor note: we follow ORDO and treat this as inborn. However, some form of porphyria (e.g PCT) may be acquired. inborn disorder of porphyrin metabolism MONDO:0017755 An instance of bilirubin metabolism disease that is caused by an inherited modification of the individual's genome. disorder of bilirubin metabolism disorder of bilirubin metabolism and excretion hereditary bilirubin metabolism disease inborn disorder of bilirubin metabolism and excretion bilirubin metabolism disorder inborn disorder of bilirubin metabolism MONDO:0017756 disorder of pterin metabolism MONDO:0017757 disorder of metabolite absorption and transport MONDO:0017758 disorder of vitamin and non-protein cofactor absorption and transport disorder of vitamin and non-protein cofactor absorption and transport MONDO:0017759 disorder of catecholamine synthesis MONDO:0017760 https://github.com/monarch-initiative/mondo/issues/5114 2022-09-01 Reason: out of scope. MONDO:excludeGroupingClass. Term to consider:MONDO:0017757 disorder of metabolite absorption and transport disorder of other vitamins and cofactors metabolism and transport MONDO:0017761 disorder of mineral absorption and transport MONDO:0017762 An inherited metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis. inborn cellular copper ion homeostasis disorder inborn error of cellular copper ion homeostasis rare inborn error of cellular copper ion homeostasis copper Transport disorders disorder of copper metabolism MONDO:0017763 disorder of iron metabolism and transport MONDO:0017764 disorder of zinc metabolism and transport disorder of zinc metabolism MONDO:0017765 An inherited metabolic disease that is has its basis in the disruption of magnesium ion transport. inborn error of magnesium ion transport inborn magnesium ion transport disorder rare inborn error of magnesium ion transport disorder of magnesium transport MONDO:0017766 disorder of manganese transport MONDO:0017767 A post-bacterial multisystem inflammatory disease occurring as a post-infectious, nonsuppurative sequela of untreated streptococcus pyogenes (Group A streptococcus [GAS]) pharyngitis, and mainly occurs in individuals aged 5 to 15 years. The most common presenting signs are fever, migratory polyarthritis and carditis. ARF RHF - rheumatic fever acute rheumatic fever inflammatory rheumatism rheumatic fever https://rarediseases.info.nih.gov/diseases/5699/rheumatic-fever MONDO:0017768 Reflex epilepsy refers to epilepsies where recurrent seizures are provoked by a clearly defined extrinsic (most commonly) or intrinsic triggering stimuli such as flashing lights (photosensitive epilepsy), startling noises (startle epilepsy), urinating (micturition induced seizures), exposure to hot-water (hot water epilepsy), eating, reading, and thinking, while being associated with an enduring abnormal predisposition to have such seizures (thereby meeting the conceptual definition of epilepsy). epilepsy, sensory-induced reflex epilepsy MONDO:0017769 acquired immunodeficiency MONDO:0017770 Robinow-like syndrome is characterized by the association of the clinical features present in Robinow syndrome (short stature, mesomelic brachymelia, macrocephaly, and hypoplastic genitalia), with anterior chamber cleavage anomalies. It has been described in two sisters and is transmitted as an autosomal recessive trait. Saal-Greenstein syndrome Robinow-like syndrome MONDO:0017771 Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations). MRKH MRKH syndrome Mullerian aplasia/dysgenesis Rokitansky syndrome Mayer-Rokitansky-Küster-Hauser syndrome Mayer-Rokitansky-Kuster-Hauser syndrome MONDO:0017772 oral erosive lichen MONDO:0017773 A metabolic disorder characterized by deficiency of high density (alpha) lipoprotein in the blood. hypoalphalipoproteinemia MONDO:0017774 A group of lipoprotein metabolism disorders that are characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol. hypo-beta-lipoproteinemia hypobetalipoproteinemia MONDO:0017775 An infection that is caused by Burkholderia pseudomallei, which is found in soil and water; symptoms vary widely, but most commonly include fever, cough, pneumonia, arthralgia, myalgia, and skin ulceration. Burkholderia pseudomallei caused disease or disorder Burkholderia pseudomallei disease or disorder Burkholderia pseudomallei infectious disease Nightcliff gardener's disease Whitmore's disease acute and fulminating melioidosis pseudoglanders subacute and chronic melioidosis B pseudomallei infection Burkholderia pseudomallei infection Whitmore disease melioidosis https://rarediseases.info.nih.gov/diseases/9546/melioidosis MONDO:0017776 Nocardiosis is a local (skin, lung, brain) or disseminated (whole body) acute, subacute, or chronic bacterial infection. Nocardia caused disease or disorder Nocardia disease or disorder Nocardia infectious disease Nocardia infection lung nocardiosis nocardiosis https://rarediseases.info.nih.gov/diseases/7210/nocardiosis MONDO:0017778 A keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma. https://github.com/monarch-initiative/mondo/issues/2114 LI classic lamellar ichthyosis congenital lamellar ichthyosis lamellar ichthyosis MONDO:0017779 Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity. NAGA deficiency Schindler disease alpha-N-acetylgalactosaminidase activity disease disorder of alpha-N-acetylgalactosaminidase activity alpha-N-acetylgalactosaminidase deficiency MONDO:0017780 20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported. https://github.com/monarch-initiative/mondo/issues/3664 20p subtelomeric deletion syndrome Del(20)(p13) monosomy 20p13 20p13 microdeletion syndrome MONDO:0017781 https://github.com/monarch-initiative/mondo/issues/3664 Del(12)(p12.1) monosomy 12p12.1 12p12.1 microdeletion syndrome MONDO:0017782 A rare genetic syndrome characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities). https://github.com/monarch-initiative/mondo/issues/5588 developmental and speech delay due to SOX5 deficiency MONDO:0017783 https://github.com/monarch-initiative/mondo/issues/4069 neonatal congenital pancreatic cyst true congenital pancreatic cyst congenital pancreatic cyst MONDO:0017784 Epstein-Barr virus (EBV)-associated gastric carcinoma (EBVaGC) is a rare form of gastric carcinoma (seen in approximately 10% of cases) with a male predominance, characterized by a latent EBV infection in gastric carcinoma cells, diffuse-type histology, a proximal location (in the body and cardia of the stomach) and a relatively favorable prognosis. EBV-associated gastric carcinoma EBVaGC Epstein-Barr virus-associated gastric carcinoma MONDO:0017785 PENS syndrome is a rare, genetic, neurocutaneous syndrome characterized by the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular polycyclically-shaped, epidermal keratotic papules and plaques of ''gem-like'' appearance with a rough surface, typically located on the trunk and proximal limbs, associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and oftalmological abnormalities have also been reported. papular epidermal nevi with skyline basal cell layers syndrome PENS syndrome MONDO:0017786 2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioural problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported. https://github.com/monarch-initiative/mondo/issues/3492 dup(2)(q23.1) trisomy 2q23.1 2q23.1 microduplication syndrome MONDO:0017787 Leiner disease Leiner-Moussous desquamative erythroderma erythroderma desquamativa of Leiner erythroderma desquamativum of infancy generalized erythroderma, diarrhea, and failure to thrive Editors note: check whether xref to HGNC:1331 is appropriate erythroderma desquamativum https://rarediseases.info.nih.gov/diseases/2191/erythroderma-desquamativa-of-leiner MONDO:0017788 Dinno syndrome contractures - webbed neck - micrognathia - hypoplastic nipples syndrome MONDO:0017789 Idiopathic linear interstitial keratitis is a rare, acquired ocular disease characterized by migratory or non-migratory, horizontal, linear, stromal infiltrates that may heal spontaneously. Minimal vascularization and scarring may be observed but vision loss is not associated. idiopathic linear interstitial keratitis MONDO:0017790 A rare hereditary gastric cancer characterized by proximal gastric polyposis and increased risk of early-onset, intestinal-type adenocarcinoma of the gastric body, with no duodenal or colorectal polyposis. This is an n-of-1 use case where only one patient or family has been described with this disorder. GAPPS familial fundic gland polyposis with gastric cancer fundic gland polyposis polyposis, gastric polyposis, gastric, Dos Santos and de Magalhaes 1980 gastric adenocarcinoma and proximal polyposis of the stomach MONDO:0017791 high bone mass OI high bone mass osteogenesis imperfecta MONDO:0017792 7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated. https://github.com/monarch-initiative/mondo/issues/3492 dup(7)(p22.1) trisomy 7p22.1 7p22.1 microduplication syndrome MONDO:0017793 marfanoid habitus-inguinal hernia-advanced bone age syndrome MONDO:0017794 Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients. https://github.com/monarch-initiative/mondo/issues/3492 dup(X)(q12-q13.3) Xq12-q13.3 duplication syndrome MONDO:0017795 The most common odontogenic tumor, arising from the epithelial component of the embryonic tooth and usually affecting the molar-ramus region of the mandible or maxilla. Although most ameloblastomas are morphologically and clinically benign, they may cause extensive local destruction, recur, or metastasize. ameloblastoma ameloblastoma of jaw Adenoameloblastoma adamantinoma adenomatoid odontogenic tumor aot ameloblastoma MONDO:0017798 Spigelian hernia-cryptorchidism syndrome MONDO:0017799 A rare syndrome affecting females. It is characterized by pleural effusion, ascites and non-malignant ovarian neoplasm. This syndrome usually follows a benign course. Prognosis is favorable following surgical resection of the ovarian mass. Demons-Meigs syndrome Meigs' syndrome Meigs syndrome MONDO:0017800 pseudo-Demons-Meigs syndrome pseudo-Meigs syndrome MONDO:0017801 atypical Demons-Meigs syndrome incomplete Meigs syndrome atypical Meigs syndrome MONDO:0017802 A rare, benign, sex cord-stromal neoplasm, with a typically unilateral location in the ovary, characterized by mixed features of both fibroma and thecoma. Patients may be asymptomatic or may present with pelvic/abdominal pain and/or distension and, occasionally, with post-menopausal bleeding. Large tumors (>10cm) are often associated with pleural effusion and ascites (the Meigs syndrome triad). ovarian fibrothecoma MONDO:0017803 PPAOS primary progressive apraxia of speech MONDO:0017804 Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome is a rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions in brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures. autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome MONDO:0017805 https://github.com/monarch-initiative/mondo/issues/5588 intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome MONDO:0017806 15q overgrowth syndrome is a rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly. 15q26 overgrowth syndrome 15q overgrowth syndrome MONDO:0017807 A condition characterized by the presence of a growing mature teratoma in a patient during or after chemotherapy for a non-seminomatous germ cell tumor, with normal serum markers for human chorionic gonadotropin and alpha fetoprotein. Complete surgical resection is the preferred treatment. GTS growing teratoma syndrome MONDO:0017808 DPG-plus syndrome Duplication of the pituitary gland-plus syndrome hypophyseal duplication duplication of the pituitary gland MONDO:0017809 CLN12 disease parkinsonism due to ATP13A2 deficiency MONDO:0017810 A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy. autosomal dominant beta2-microglobulinic amyloidosis variant ABeta2M amyloidosis MONDO:0017811 https://github.com/monarch-initiative/mondo/issues/3664 5q31.3 microdeletion syndrome Del(5)(q31.3) monosomy 5q31.3 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion MONDO:0017812 A rare PIK3CA-related overgrowth syndrome disease characterized by segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable, although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones, and progresses in a distal to proximal patten. Congenital overgrowth is typically associated. https://github.com/monarch-initiative/mondo/issues/5210 segmental progressive overgrowth syndrome with fibroadipose hyperplasia MONDO:0017813 Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia. https://github.com/monarch-initiative/mondo/issues/5588 Van Maldergem syndrome cerebro-facio-articular syndrome Van Maldergem Wetzburger Verloes syndrome cerebro-facio-articular syndrome of Van Maldergem van Maldergem syndrome MONDO:0017814 A rare non-Hodgkin lymphoma or even more rarely, a Hodgkin lymphoma that arises from the bone, without lymph node or other extranodal involvement. The femur, spine, and pelvic bones are the most commonly affected sites. The majority of patients present with bone pain in the affected area. A single bone or multiple skeletal sites may be involved. The prognosis is related to the cell type and the stage of the disease. bone tissue lymphoma lymphoma of bone lymphoma of bone tissue lymphoma of the bone primary lymphoma of bone primary lymphoma of the bone bone lymphoma primary bone lymphoma MONDO:0017815 An instance of porencephaly that is acquired during the lifetime of the individual. acquired porencephaly acquired porencephaly MONDO:0017816 Primary systemic amyloidosis (PSA) is a form of AL amyloidosis caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by multiple organ involvement. systemic AL amyloidosis systemic Immunoglobulin Light chain amyloidosis systemic amyloidosis primary systemic amyloidosis MONDO:0017817 Primary localized amyloidosis is a form of AL amyloidosis caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin. localized AL amyloidosis primary localized amyloidosis MONDO:0017818 lethal arteriopathy syndrome due to fibulin-4 deficiency MONDO:0017819 dentin dysplasia type 1 with microdontia and shape anomalies atypical dentin dysplasia due to SMOC2 deficiency MONDO:0017822 mixed secreting pituitary adenoma mixed functioning pituitary adenoma MONDO:0017823 GH and PRL cosecreting pituitary adenoma Growth hormone and prolactin cosecreting pituitary adenoma Somatolactotropinoma Somatoprolactinoma somatomammotropinoma MONDO:0017824 FIPA Editor note: TODO check this familial isolated pituitary adenoma MONDO:0017825 silent pituitary adenoma MONDO:0017826 null pituitary adenoma MONDO:0017827 Malignant peripheral nerve sheath tumor (MPNST) is a rare and often aggressive soft tissue sarcoma occurring in a wide range of anatomical sites. neurofibrosarcoma MPNST Malig. periph. nerve sheath tum. malignant neoplasm of peripheral nerve sheath malignant neoplasm of the peripheral nerve sheath malignant neurilemmoma malignant neurilemoma malignant neurofibroma malignant peripheral nerve sheath neoplasm malignant peripheral nerve sheath tumor malignant peripheral nerve sheath tumor (morphologic abnormality) malignant peripheral nerve sheath tumor [dup] (morphologic abnormality) malignant peripheral nerve sheath tumour malignant schwannoma malignant tumor of peripheral nerve sheath malignant tumor of the peripheral nerve sheath neurofibrosarcoma, malignant neurogenic sarcoma schwannoma, malignant malignant peripheral nerve sheath tumor MONDO:0017828 primary renal tubular acidosis MONDO:0017829 Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications. AD pRTA proximal renal tubular acidosis, autosomal dominant autosomal dominant proximal renal tubular acidosis MONDO:0017830 Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia. infantile Canavan disease neonatal Canavan disease severe Canavan disease MONDO:0017831 Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development. juvenile Canavan disease mild Canavan disease MONDO:0017832 A disease caused by infection with Mycobacterium xenopi. Mycobacterium xenopi caused disease or disorder Mycobacterium xenopi disease or disorder Mycobacterium xenopi infectious disease M. xenopi Mycobacterium xenopi mycobacterium xenopi infection MONDO:0017833 HES-M HES-N clonal hypereosinophilic syndrome neoplastic hypereosinophilic syndrome primary HES primary hypereosinophilic syndrome MONDO:0017834 HES-R reactive hypereosinophilic syndrome secondary HES secondary hypereosinophilic syndrome MONDO:0017835 HES-L lymphocytic variant HES lymphoid HES lymphocytic hypereosinophilic syndrome MONDO:0017836 Erythrokeratoderma 'en cocardes' is a rare genodermatosis characterised by circumscribed target-like (or 'en cocardes') erythematous hyperkeratotic lesions. These lesions, which remit and recur, affect the trunk and extremities and are accompanied by scaly plaques evocative of erythrokeratoderma variabilis. Onset usually occurs at birth or during early childhood. Only few cases have been described. Transmission is autosomal dominant. Degos genodermatosis Degos genodermatosis "en cocardes" Degos 'en cocarde' erythrokeratoderma Degos genodermatosis 'en cocardes' erythrokeratoderma "en cocardes" erythrokeratoderma ''en cocardes'' erythrokeratoderma 'en cocardes' erythrokeratoderma en cocardes https://rarediseases.info.nih.gov/diseases/1722/degos-en-cocarde-erythrokeratoderma MONDO:0017837 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992. multiple sclerosis-ichthyosis-factor VIII deficiency syndrome MONDO:0017838 Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure. cortical hyperostosis with syndactyly cortical hyperostosis-syndactyly syndrome sclerosteosis MONDO:0017839 The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency. classic 21-OHD CAH, salt wasting form classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form MONDO:0017840 The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting. classic 21-OHD CAH, simple virilizing form classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form MONDO:0017842 Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy. Loken Senior syndrome SLSN nephronophthisis with retinal dystrophy renal dysplasia-retinal aplasia syndrome renal-retinal syndrome Senior Loken syndrome renal dysplasia retinal aplasia Senior-Loken syndrome MONDO:0017843 A rare congenital abnormality of the lungs. It consists of a mass of lung parenchyma that does not communicate with the bronchial tree and receives its blood supply from the systemic circulation instead of the pulmonary circulation. bronchopulmonary sequestration congenital bronchopulmonary sequestration congenital sequestration of lung pulmonary sequestration sequestered lobe (pulmonary sequestration) congenital pulmonary sequestration MONDO:0017844 Sezary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sezary cells). CTCL / Sezary syndrome SC)zary syndrome Sezary disease Sezary lymphoma Sezary syndrome Sezary's disease Sézary lymphoma Sézary syndrome cutaneous T-cell lymphoma/Sezary syndrome SS Sezary's lymphoma Sezary syndrome MONDO:0017845 SPAX spastic ataxia MONDO:0017846 Autosomal dominant form of spastic ataxia. AD-SPAX spastic ataxia, autosomal dominant autosomal dominant spastic ataxia MONDO:0017847 Autosomal recessive form of spastic ataxia. AR-SPAX spastic ataxia, autosomal recessive autosomal recessive spastic ataxia MONDO:0017849 Siegler-Brewer-Carey syndrome is characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infection, and failure to thrive. It has been recently described in two sibs born to consanguineous parents. The patients also developed recurrent pneumonia and progressive azotemia leading to end-stage renal disease. Both children died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance was proposed. Siegler Brewer Carey syndrome fatal multisystem syndrome involving the eyes, ears, lungs, intestines, and kidneys Siegler-Brewer-Carey syndrome https://rarediseases.info.nih.gov/diseases/4867/siegler-brewer-carey-syndrome MONDO:0017850 Sirenomelia is a rare, genetic, developmental defect during embryogenesis disorder characterized by fusion of the lower limbs and associated with some degree of lower extremity reduction and persistent vitelline artery. Patients also present severe malformations of the musculoskeletal system (e.g. sacral agenesis), as well as the urogenital and lower gastrointestinal tracts (e.g. renal agenesis, absent bladder, rectal/anal atresia, and absent internal genitalia). Most cases are stillborn, or die during, or shortly after, birth. symmelia Fused legs and feet Sirenomelus mermaid malformation mermaid syndrome sirenomelia sequence sirenomelia MONDO:0017851 A rare genetic chronic skin disorder characterized by hyperkeratosis and transient erythema. EKV erythrokeratodermia Figurata variabilis erythrokeratodermia variabilis erythrokeratodermia variabilis, Mendes da Costa type Darier-Gottron disease EKVP Greither's disease erythrokeratodermia Figurata, congenital familial, in plaques erythrokeratodermia figurata, congenital familial, in plaques erythrokeratodermia progressiva symmetrica erythrokeratodermia variabilis ET progressiva erythrokeratodermia variabilis with erythema Gyratum Repens erythrokeratodermia variabilis with erythema gyratum repens erythrokeratodermia, progressive symmetric keratoderma palmoplantaris transgrediens keratosis extremitatum hereditaria progrediens keratosis palmoplantaris transgrediens Et progrediens keratosis palmoplantaris transgrediens et progrediens progressive symmetric erythrokeratodermia progressive symmetric erythrokeratodermia, Gottron type erythrokeratodermia variabilis https://rarediseases.info.nih.gov/diseases/3096/keratoderma-palmoplantaris-transgrediens MONDO:0017852 A rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990. Tsao-Ellingson syndrome Tsao Ellingson syndrome infantile spasms broad thumbs infantile spasms-broad thumbs syndrome https://rarediseases.info.nih.gov/diseases/3002/infantile-spasms-broad-thumbs MONDO:0017853 Hypersensitivity pneumonitis (HP) is a pulmonary disease with symptoms of dyspnea and cough resulting from the inhalation of an antigen to which the subject has been previously sensitized. https://github.com/monarch-initiative/mondo/issues/4323 HP allergic form of pneumonitis allergic pneumonitis alveolitis exogen allergic alveolitis extrinsic allergic alveolitis hypersensitivity pneumonitis allergic interstitial pneumonitis alveolitis, extrinsic allergic extrinsic allergic pneumonia hypersensitivity pneumonitis hypersensitivity pneumonitis MONDO:0017855 T-B- severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types. T-B- SCID T-B- severe combined immunodeficiency MONDO:0017856 X-linked spasticity-intellectual disability-epilepsy syndrome MONDO:0017857 Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis. spina bifida-hypospadias syndrome MONDO:0017858 An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001) AEL AML M6 Erythroleukemia FAB M6 M6 acute myeloid leukemia acute erythroblastic leukemia acute erythroid leukemia acute myeloid leukemia M6 erythroblastic leukemia leukemia, erythroid, malignant AML-M6 Di Guglielmo syndrome Di Guglielmo's syndrome acute erythroleukemia acute erythroleukemia M6a subtype acute erythroleukemia M6b subtype acute myeloid leukemia FAB-M6 acute erythroid leukemia https://rarediseases.info.nih.gov/diseases/9620/acute-erythroid-leukemia https://rarediseases.info.nih.gov/diseases/9750/di-guglielmos-syndrome MONDO:0017859 A potentially life-threatening poisoning, due to ingestion of the drug or consumption of the plant Colchicum autumnale, that usually begins with gastrointestinal symptoms (e.g. abdominal pain, nausea, vomiting, and diarrhea, that cause severe dehydration) and an initial leukocytosis leading to marrow failure (24 hours after ingestion), followed by potentially fatal multi-organ failure with mental status change, oliguric renal failure, disseminated intravascular coagulation, electrolyte imbalance, acid-base disturbance, cardiac failure/arrest and shock within 1-3 days. colchicine poisoning MONDO:0017860 Methanol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the alcohol dehydrogenase (ADH)-mediated production of formic acid (which is poisonous to the central nervous system), and characterized by dizziness, nausea, vomiting, confusion, metabolic acidosis, visual disturbances (which if left untreated can lead to blindness), coma, and death (due to respiratory failure). methanol poisoning MONDO:0017861 Ethylene glycol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the production of glycolic acid, glyoxylic acid, and oxalic acid by alcohol dehydrogenase (ADH) in the liver when ethylene glycol is metabolized, characterized initially by euphoria, slurred speech, encephalopathy, coma and seizures, and followed by late manifestations such as tachycardia, arrhythmias, myocardial depression, hemodynamic imbalance and, finally, acute renal failure. ethylene glycol poisoning MONDO:0017862 Paraquat poisoning is a rare intoxication with paraquat (a non-selective bipyridilium herbicide that has been banned in Europe), usually occurring through ingestion of the poison, and that presents with caustic injury of the oral cavity and pharynx, as well as nausea, vomiting, epigastric pain, lethargy, loss of consciousness and fever. Patients may develop potentially life-threatening complications such as hepatic dysfunction, acute tubular necrosis and renal insufficiency, and respiratory failure (due to pulmonary fibrosis) due to its inherent toxicity and lack of effective treatment. Intoxication via inhalation, injection and dermal or mucus contact have also been reported. paraquat poisoning MONDO:0017863 Digitalis (digoxin) poisoning is a potentially life-threatening poisoning that provokes conduction disturbances, characterized by increased automaticity and decreased conduction. Acute poisoning presents with the common initial manifestations of nausea and vomiting, cardiovascular manifestations (bradycardia, heart block and a variety of dysrhythmias), central nervous system manifestations (lethargy, confusion and weakness) and hyperkalemia. Chronic poisoning is more insidious, manifesting with gastrointestinal symptoms, altered mental status, and visual disturbances. digitalis poisoning MONDO:0017864 Congenital pulmonary vein (PV) stenosis or atresia is a rare progressive life-threatening great vessels anomaly characterized by narrowing and obstruction of one or more normally positioned PV at their junction with the left atrium, that usually presents during early infancy with dyspnea, tachypnea, and repeated pulmonary infections, and eventually, when all PV of one lung are affected, results in pulmonary hypertension (PH) and consecutive pulmonary arterial hypertension (PAH). It may manifest as an isolated lesion or associated with other cardiac defects such as congenital pulmonary venous return anomaly and septal defects. pulmonary vein stenosis pulmonary veins stenosis congenital pulmonary veins atresia or stenosis MONDO:0017865 Congenital pulmonary stenosis (PS) is a congenital heart malformation that is characterized by a right ventricular outflow obstruction with a clinical presentation that may vary from critical stenosis presenting in the neonatal period to asymptomatic mild stenosis. The obstruction in PS can be at the valvular, subpulmonary, or supravalvular levels (valvular, subpulmonary, supravalvular PS). heart valve pulmonary stenosis valvar pulmonary stenosis valvate pulmonary stenosis valvular pulmonary stenosis congenital pulmonary valve stenosis MONDO:0017866 subpulmonary stenosis https://rarediseases.info.nih.gov/diseases/5051/subpulmonary-stenosis MONDO:0017867 Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline. https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/5588 distal del(17)(p13.1) distal 17p13.1 microdeletion syndrome MONDO:0017868 Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionaly, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the 'butterfly sign' is characterisitcally observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described. diencephalic-mesencephalic junction dysplasia MONDO:0017869 Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates. chondroectodermal dysplasia with night blindness MONDO:0017870 pulmonary supravalvular stenosis supravalvular pulmonary stenosis https://rarediseases.info.nih.gov/diseases/4594/pulmonary-supravalvular-stenosis MONDO:0017871 BMAH bilateral adrenal hemorrhage bilateral massive adrenal hemorrhage MONDO:0017872 Lujo hemorrhagic fever, caused by the Lujo virus (a newly discovered Old World arenavirus) is a zoonotic disease from Zambia, Africa, whose reservoir is unknown and is characterized by fever and hemorrhagic manifestations with an extremely high fatality rate of 80% (in the 5 reported cases to date) and a moderate to high level of nosocomial transmission. Zambian hemorrhagic fever Lujo hemorrhagic fever MONDO:0017874 Argentine hemorrhagic fever (AHF), caused by the Junin virus (JUNV), is an acute viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms and in some cases hemorrhagic and neurological manifestations. Argentinian hemorrhagic fever Junin hemorrhagic fever Argentine hemorrhagic fever MONDO:0017875 Bolivian hemorrhagic fever (BHF), caused by the Machupo virus (MACV), is a severe acute viral hemorrhagic fever characterized by fever, myalgia, and arthralgia followed by hemorrhagic and neurological manifestations. Machupo hemorrhagic fever Bolivian hemorrhagic fever MONDO:0017876 Venezuelan hemorrhagic fever (VHF), caused by the Guanarito virus, is a viral hemorrhagic disease characterized by fever, headache, arthralgia, sore throat, convulsions, and hemorrhagic manifestations. Guanarito hemorrhagic fever Venezuelan hemorrhagic fever MONDO:0017877 Brazilian hemorrhagic fever, caused by the Sabia virus (a newly discovered arenavirus), is a viral hemorrhagic fever, believed to originate from Sao Paulo, Brazil, with only 3 reported cases (2 of which were due to laboratory accidents) to date, characterized by fever, nausea vomiting myalgia tremors, and hemorragic manifestations such as conjunctival petechia and haematemesis, leading potentially to shock, coma and death. Sabia hemorrhagic fever Brazilian hemorrhagic fever MONDO:0017878 Chapare hemorrhagic fever, caused by the Chapare virus (a new arenavirus), discovered from a small outbreak in Cochabamba, Bolivia between 2003 and 2004, is an acute viral hemorrhagic fever characterized by fever, myalgia, arthralgia, and multiple hemorrhagic signs. About a third of untreated cases go on to develop more severe symptoms with delirium, coma and convulsions and death (in one case). No other cases have been reported since. Chapare hemorrhagic fever MONDO:0017879 An infection caused by Hantaviruses. It manifests with flu-like symptoms but it rapidly progresses to life-threatening respiratory problems. HARDS Hantavirus Hantavirus-associated respiratory distress syndrome four corners hantavirus hantavirus pulmonary syndrome MONDO:0017880 Rift Valley fever (RVF), caused by the Rift Valley fever virus (RVFV), is an arbovirus characterized by a usually self-limiting febrile illness but that in some cases can also manifest with thrombosis, vision loss, hemorrhages and/or neurological symptoms. RVF Rift valley fever MONDO:0017881 Kyasanura forest disease (KFD), caused by the KFD virus, is an arbovirus characterized by an initial fever, headache and myalgia that can progress to a hemorrhagic disease and that in some cases is followed by a second phase characterized by neurological manifestations. Kyasanur forest disease virus caused disease or disorder Kyasanur forest disease virus disease or disorder Kyasanur forest disease virus infectious disease Kyasanur hemorrhagic fever KFD KFD virus monkey disease monkey fever Kyasanur forest disease https://rarediseases.info.nih.gov/diseases/8257/kyasanur-forest-disease MONDO:0017882 Omsk hemorrhagic fever (OHF), caused by Omsk hemorrhagic fever virus (OHFV), is a zoonotic disease characterized by fever, nausea, myalgia and moderately severe hemorrhagic manifestations as well as in some cases meningitis, pneumonia and nephrosis. Omsk hemorrhagic fever https://rarediseases.info.nih.gov/diseases/8254/omsk-hemorrhagic-fever MONDO:0017884 A rare subtype of renal cell carcinoma, arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes, such as Hereditary leiomyoma renal cell carcinoma, Birt-Hogg-DubC) syndrome and Tuberous sclerosis, may predispose to the development of papillary renal cell carcinoma. HPRCC chromophil carcinoma of kidney chromophil carcinoma of the kidney chromophil renal cell carcinoma papillary (chromophil) renal cell carcinoma papillary kidney carcinoma papillary renal cell adenocarcinoma papillary renal cell cancer papillary renal cell carcinoma renal cell carcinoma, papillary, type 1 sporadic papillary renal cell carcinoma RCCP RCCP1 chromophil RCC papillary renal carcinoma, malignant - (subtype) papillary renal cell carcinoma, bilateral - (subtype) papillary renal cell carcinoma, familial - (subtype) papillary renal cell carcinoma, multiple - (subtype) papillary renal cell carcinoma, sporadic - (subtype) renal adenocarcinoma renal cell carcinoma, papillary, 1 papillary renal cell carcinoma https://rarediseases.info.nih.gov/diseases/9572/papillary-renal-cell-carcinoma MONDO:0017885 Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg DubC) syndrome, have been described. chromophobe adenocarcinoma chromophobe carcinoma chromophobe carcinoma of kidney chromophobe carcinoma of the kidney chromophobe cell carcinoma of kidney chromophobe cell carcinoma of the kidney chromophobe renal cell adenocarcinoma chromophobe renal cell cancer chromophobe renal cell carcinoma kidney chromophobe renal cell carcinoma, chromophobe cell renal cell carcinoma, chromophobe type CHRCC CRCC ChRCC chromophobe renal cell carcinoma https://rarediseases.info.nih.gov/diseases/6064/chromophobe-renal-cell-carcinoma MONDO:0017886 MiT family translocation renal cell carcinoma (t-RCC) is a rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harboring rearrangements of the TFE3 (Xp11 t-RCC) or TFEB [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include hematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anemia, fatigue and fever. carcinoma associated with MITF/TFE translocation translocation renal cell carcinoma MIT family translocation renal cell carcinoma MONDO:0017887 Renal cell carcinoma that develops in patients who are long-term survivors of childhood neuroblastoma. renal cell cancer associated with neuroblastoma renal cell carcinoma after neuroblastoma renal cell carcinoma associated with neuroblastoma renal cell carcinoma associated with neuroblastoma MONDO:0017890 Tubulocystic renal cell carcinoma is an extremely rare subtype of renal cell carcinoma most frequently characterized by a small, solitary, well-circumscribed, unencapsulated renal tumor composed of multiple small to medium-sized cysts with a white or gray, spongy ("bubble wrap-like") cut surface. Patients are usually asymptomatic or could manifest with abdominal pain, abdominal distension and/or hematuria. Progression, recurrence and metastasis rarely occur although lymph node, bone, pleura and liver mestatsis have been reported. Tubulocystic renal cell cancer tubulocystic renal cell carcinoma MONDO:0017891 inherited renal cancer-predisposing syndrome MONDO:0017892 Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without opthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life. SYNE1-related AMC SYNE1-related arthrogryposis multiplex congenita autosomal recessive myogenic AMC autosomal recessive myogenic arthrogryposis multiplex congenita MONDO:0017893 An instance of acute myeloid leukemia that is caused by an inherited modification of the individual's genome. Pure familial AML Pure familial acute myeloid leukemia familial AML hereditary acute myeloid leukemia inherited AML inherited acute myeloid leukemia MONDO:0017894 Acute myeloid leukemia with CEBPA somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). AML with CEBPA somatic mutations AML with mutated CEBPA acute myeloid Leukemia with mutated CEBPA acute myeloid Leukemia with non-germline mutated CEBPA non-familial acute myeloid leukemia with mutated CEBPA acute myeloid leukemia with CEBPA somatic mutations MONDO:0017895 A papillary or follicular thyroid gland carcinoma with a genetic component that develops within the same family. Current studies suggest that it is inherited in an autosomal dominant pattern. It is often multifocal and bilateral and usually affects younger patients. FNMTC familial nonmedullary thyroid gland carcinoma familial pure nonmedullary thyroid carcinoma familial papillary or follicular thyroid carcinoma MONDO:0017896 Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting. thyroid cancer, nonmedullary Note the OMIM phenotypic series lacks a member classified by ORDO familial nonmedullary thyroid carcinoma MONDO:0017900 Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM). IFNGR2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency MSMD due to complete IFNgammaR2 deficiency MSMD due to complete interferon gamma receptor 2 deficiency Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IFNGR2 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency MONDO:0017901 A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM). https://github.com/monarch-initiative/mondo/issues/4882 IFNGR1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency autosomal recessive MSMD due to partial IFNgammaR1 deficiency autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency MONDO:0017902 A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM). https://github.com/monarch-initiative/mondo/issues/4882 IFNGR2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency autosomal recessive MSMD due to partial IFNgammaR2 deficiency autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency MONDO:0017903 A genetic variant of mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM). IFNGR2 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency autosomal dominant MSMD due to partial IFNgammaR2 deficiency autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR2 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency MONDO:0017904 Steroid dehydrogenase deficiency-dental anomalies syndrome is an autosomal recessive liver disease which was associated with numerical dental aberrations in a consanguineous Arabi Saudi family. This association suggests that the same gene is involved in both defects. General hypomineralisation and enamel hypoplasia found in this family is thought to be secondary to malabsorption due to liver disease. Lyngstadaas syndrome severe dental aberrations in familial steroid dehydrogenase deficiency steroid dehydrogenase deficiency dental anomalies steroid dehydrogenase deficiency-dental anomalies syndrome MONDO:0017905 A rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. They are characterized by mycobacterial infections, occuring in males. X-linked MSMD mendelian susceptibility to mycobacterial diseases, X-linked X-linked Mendelian susceptibility to mycobacterial diseases MONDO:0017906 Amyloidosis cutis dyschromia is a rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo- and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare. amyloidosis cutis dyschromica amyloidosis cutis dyschromia MONDO:0017907 Primary lymphoma of the conjunctiva is an extremely rare clonal lymphoid proliferation of the ocular surface, with an indolent course. Clinically it presents with treatment-resistant conjunctivitis, ptosis, excessive tear production or as a painless, salmon-pink, ''fleshy'' patch, with a smooth or multinodular surface, on the bulbar conjunctiva. Histologically it is usually B-cell Non-Hodgkin lymphoma (most often extranodal marginal zone B-cell lymphoma, followed by follicular and diffuse large B-cell lymphoma), with conjunctival T-cell Non-Hodgkin lymphoma being very rare. conjunctiva lymphoma conjunctiva primary organ-specific lymphoma lymphoma of conjunctiva primary lymphoid conjunctival tumor primary organ-specific lymphoma of conjunctiva primary lymphoma of the conjunctiva MONDO:0017909 Glutathione synthetase deficiency is characterised by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms. https://github.com/monarch-initiative/mondo/issues/4985 5-oxoprolinuria GSSD glutathione synthetase deficiency inborn error of glutathione synthase activity inborn glutathione synthase activity disorder inherited glutathione synthetase deficiency pyroglutamic aciduria pyroglutamicaciduria rare inborn error of glutathione synthase activity oxoprolinase deficiency inherited glutathione synthetase deficiency MONDO:0017910 Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed. hereditary xerocytosis Desiccytosis hereditary xerocytosis hereditary dehydrated hereditary stomatocytosis MONDO:0017912 X-linked pure spastic paraplegia MONDO:0017913 Pure or complex familial spastic paraplegia Pure or complicated familial spastic paraplegia Pure or complicated hereditary spastic paraplegia pure or complex hereditary spastic paraplegia MONDO:0017914 Pure or complicated autosomal dominant spastic paraplegia pure or complex autosomal dominant spastic paraplegia MONDO:0017915 Pure or complicated autosomal recessive spastic paraplegia pure or complex autosomal recessive spastic paraplegia MONDO:0017916 Pure or complicated X-linked spastic paraplegia pure or complex X-linked spastic paraplegia MONDO:0017917 A rare, genetic, complex hereditary spastic paraplegia disorder characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination. MT-ATP6-related mitochondrial spastic paraplegia maternally-inherited SPG maternally-inherited spastic paraplegia MONDO:0017918 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome is a very rare neurological condition. The few patients described in the medical literature were characterized by brain anomalies; an unusual face with broad nasal root, wide spaced eyes (hypertelorism) and a very small chin (micrognathia); failure to thrive; severe intellectual disability ;and lack of muscle tone (hypotonia). Exams of the brain showed a poor development (hypoplasia) of the pale part of the brain known as white matter, and an absent or abnormal corpus callosum (nerve fibers joining the two hemispheres of the brain). Only a few cases have being described. The cause is unknown but may be related to a disorder of axonal development. The described cases seem to be inherited in an autosomal recessive or X-linked way. Corpus callosum agenesis is one of the more frequent congenital malformations. It can be either asymptomatic or associated with intellectual disability, epilepsy, or psychiatric syndromes. It can be part of several genetic syndromes, such as Aicardi syndrome, Andermann syndrome and Apert syndrome, trisomies 13, 18 ; or result from metabolic causes; drugs (cocaine); or viral infection (influenza). Many patients with corpus callosum anomalies have other brain anomalies, including white matter hypoplasia. There is no information on specific treatment for this condition. https://github.com/monarch-initiative/mondo/issues/5588 Curatolo-Cilio-Pessagno syndrome Curatolo Cilio Pessagno syndrome familial white matter hypoplasia, agenesis of the corpus callosum, intellectual disability and growth deficiency white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome https://rarediseases.info.nih.gov/diseases/5560/white-matter-hypoplasia-corpus-callosum-agenesis-intellectual-disability-syndrome MONDO:0017919 A spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form. Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus. https://github.com/monarch-initiative/mondo/issues/3650 EEC OEIS complex OEIS syndrome BEEC bladder exstrophy-epispadias-cloacal extrophy complex exstrophy-epispadias complex MONDO:0017920 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterised by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance). https://github.com/monarch-initiative/mondo/issues/5588 Pfeiffer-Kapferer syndrome Pfeiffer Kapferer syndrome sensorineural deafness, hypospadias, and synostosis of metacarpals and metatarsals 4 and 5 short stature, intellectual disability and multiple dysmorphisms short stature, mental retardation and multiple dysmorphisms deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome MONDO:0017921 Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterised by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive. Tungland-Bellman syndrome Tunglang savage Bellman syndrome hearing loss and familial salivary gland insensitivity to aldosterone hearing loss insensitivity to aldosterone hearing loss-familial salivary gland insensitivity to aldosterone syndrome MONDO:0017922 Deafness-onychodystrophy syndrome is a group of rare, genetic, developmental defect during embryogenesis disorders characterized by the association of sensorineural deafness and onychodystrophy (e.g. absent/hypoplastic finger and toenails), as well as brachydactyly and finger-like thumbs. Additional features present in one of the diseases comprising this group include osteodystrophy, intellectual disability, seizures, developmental delay, and distinctive facies. deafness-onychodystrophy syndrome MONDO:0017923 Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints. WL syndrome deafness-Hermann type symphalangism syndrome facio-audio-symphalangism symphalangism-brachydactyly syndrome multiple synostoses syndrome MONDO:0017924 This syndrome is characterised by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anaemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family. https://github.com/monarch-initiative/mondo/issues/5588 Yoshimura-Takeshita syndrome central nervous system calcification-deafness-tubular acidosis-anemia syndrome MONDO:0017925 T-cell immunodeficiency with epidermodysplasia verruciformis is a rare primary immunodeficiency characterized by increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype. T-cell immunodeficiency due to RHOH deficiency T-cell immunodeficiency with epidermodysplasia verruciformis MONDO:0017926 multiple paragangliomas associated with erythrocytosis paraganglioma-somatostatinoma-polycythemia syndrome multiple paragangliomas associated with polycythemia MONDO:0017927 Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities. severe lateral tibial bowing with short stature MONDO:0017928 9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia). https://github.com/monarch-initiative/mondo/issues/3664 Del(9)(p13) monosomy 9p13 9p13 microdeletion syndrome MONDO:0017929 Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy. https://github.com/monarch-initiative/mondo/issues/4069 congenital achiasma MONDO:0017930 mixed sclerosing bone dystrophy with extra-skeletal manifestations MONDO:0017931 Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterized by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy. HIBM4 hereditary inclusion body myopathy type 4 MONDO:0017932 muscular hypertrophy-hepatomegaly-polyhydramnios syndrome MONDO:0017933 Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is a mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure. hypertrophic cardiomyopathy and renal tubular disease due to mtDNA mutation hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation MONDO:0017934 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (incl. thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated. https://github.com/monarch-initiative/mondo/issues/5588 aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome MONDO:0017935 Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1) later in life. hyperinsulinemic hypoglycemia due to HNF1A deficiency hyperinsulinism due to HNF1A deficiency MONDO:0017936 Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood. benign Samaritan congenital myopathy MONDO:0017937 autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain MONDO:0017939 classic MmD classic multiminicore disease classic multiminicore myopathy minicore myopathy MONDO:0017940 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation is a rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms. CMT2 due to KIF5A mutation autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation MONDO:0017941 An infection that is caused by the Chikungunya virus, which is transmitted by mosquitoes; it is characterized by fever and severe arthralgia. Chikungunya fever Chikungunya virus caused disease or disorder Chikungunya virus disease or disorder Chikungunya virus infectious disease CHIK CHIKV infection CK Chikungunya virus infection arbovirus A Chikungunya type chikungunya https://rarediseases.info.nih.gov/diseases/6038/chikungunya MONDO:0017942 Hendra virus infection is a rare viral infection disorder caused by the Hendra virus characterized by onset of flu-like symptoms (fever, myalgia, headaches, lethargy) approximately one week after having been in close contact with bodily fluids of infected horses. Neurological manifestations (e.g. vertigo, confusion, ataxia) and progressive respiratory failure, leading to death, have also been reported. Hendra henipavirus caused disease or disorder Hendra henipavirus disease or disorder Hendra henipavirus infectious disease Hendra virus infection MONDO:0017943 GDS Gardner-Diamond syndrome painful bruising syndrome psychogenic purpura Autoerythrocyte sensitization Autoerythrocyte sensitization purpura autoerythrocyte sensitization syndrome MONDO:0017944 Invasive non-typhoidal salmonellosis (iNTS) is a rare bacterial infectious disease caused by extraintestinal infection of non-typhoidal serotypes of Salmonella enterica in patients with underlying HIV infection, malaria or malignancy. It has a high mortality rate and patients typically present with fever, pallor and respiratory signs (cough, tachnypnea, pneumonia). Gastrointestinal manifestations (diarrhea, vomit, abdominal pain) are not common. Occasionally, organ absseses, septic shock and meningitis may be observed. iNTS disease invasive non-typhoidal salmonella disease invasive non-typhoidal salmonellosis MONDO:0017945 Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline. ABeta amyloidosis, Piedmont type ABetaL34V-related amyloidosis HCHWA, Piedmont type hereditary cerebral hemorrhage with amyloidosis, Piedmont type ABetaL34V amyloidosis MONDO:0017946 Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages. ABetaD23N amyloidosis HCHWA, Iowa type cerebral amyloid angiopathy, APP-related, Iowa variant hereditary cerebral hemorrhage with amyloidosis, Iowa type ABeta amyloidosis, Iowa type MONDO:0017947 Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage. ABetaE22K amyloidosis HCHWA, Italian type cerebral amyloid angiopathy, APP-related, Italian variant hereditary cerebral hemorrhage with amyloidosis, Italian type ABeta amyloidosis, Italian type MONDO:0017948 Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients. ABeta amyloidosis, Flemish type ABetaA21G-related amyloidosis HCHWA, Flemish type cerebral amyloid angiopathy, APP-related, Flemish variant hereditary cerebral hemorrhage with amyloidosis, Flemish type ABetaA21G amyloidosis MONDO:0017949 Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages. ABetaE22G amyloidosis HCHWA, Arctic type cerebral amyloid angiopathy, APP-related, Arctic variant hereditary cerebral hemorrhage with amyloidosis, Arctic type ABeta amyloidosis, Arctic type MONDO:0017950 https://github.com/monarch-initiative/mondo/issues/5588 microcephalic primordial dwarfism MONDO:0017951 TRPS trichorhinophalangeal syndrome MONDO:0017953 An instance of periodic fever syndrome that is caused by an inherited modification of the individual's genome. hereditary periodic fever syndrome hereditary periodic fever syndrome MONDO:0017954 pyogenic autoinflammatory syndrome MONDO:0017955 granulomatous autoinflammatory syndrome MONDO:0017958 mouth and genital ulcers with inflamed cartilage magic syndrome MONDO:0017961 46,XX disorder of gonadal development MONDO:0017962 46,XX DSD induced by fetoplacental androgens excess 46,XX disorder of sex development induced by fetoplacental androgens excess MONDO:0017963 46,XX DSD induced by endogenous maternal-derived androgen 46,XX disorder of sex development induced by endogenous maternal-derived androgen MONDO:0017964 46,XX DSD induced by exogenous maternal-derived androgen 46,XX disorder of sex development induced by exogenous maternal-derived androgen MONDO:0017966 46,XY disorder of gonadal development MONDO:0017967 bilateral anorchia absence of testes anorchia congenital absence of testes empty scrotum testicular agenesis MONDO:0017968 46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumours are frequently associated. 46,XY ovotesticular DSD 46,XY ovotesticular disorder of sex development MONDO:0017969 46,XY DSD of endocrine origin 46,XY disorder of sex development of endocrine origin MONDO:0017972 https://github.com/monarch-initiative/mondo/issues/4069 classic CLAH classic congenital lipoid adrenal hyperplasia due to STAR deficency MONDO:0017973 https://github.com/monarch-initiative/mondo/issues/4069 non-classic congenital lipoid adrenal hyperplasia due to STAR deficency MONDO:0017974 46,XY DSD induced by maternal-exposure to endocrine disruptors 46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors MONDO:0017975 Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including monosomy; trisomy; and mosaicism. Sex chromosome DSD sex chromosome disorder of sex development MONDO:0017979 Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma. ALPS ALPS (autoimmune lymphoproliferative syndrome) Canale-Smith syndrome FAS deficiency autoimmune lymphoproliferative syndrome type 1, autosomal dominant autoimmune lymphoproliferative syndrome MONDO:0017980 https://github.com/monarch-initiative/mondo/issues/4453 dobrow syndrome syngnathia-multiple anomalies syndrome syngnathia multiple anomalies https://rarediseases.info.nih.gov/diseases/1895/dobrow-syndrome https://rarediseases.info.nih.gov/diseases/5092/syngnathia-multiple-anomalies MONDO:0017981 syngnathia cleft palate syngnathia-cleft palate syndrome MONDO:0017983 Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated. humero-radio-ulnar fusion humero-radio-ulnar synostosis MONDO:0017984 Familial lambdoid synostosis is a rare, genetic cranial malformation characterized by unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure. https://github.com/monarch-initiative/mondo/issues/5782 2023-04-01 craniosynostosis, lambdoidal lambdoid synostosis Reason of obsoletion: out of scope - cross-reference obsolete at the source (MONDO:excludeObsoleteSource). Term to consider: craniosynostosis 4-MONDO:0010929 familial lambdoid synostosis MONDO:0017985 Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 radioulnar fusion radioulnar synostosis radioulnar synostosis (disease) proximal, smooth fusion of 2-6 CM between the radius and ulna and absent head of the radius radial-ulnar synostosis radio-ulnar synostosis radio-ulnar synostosis type 1 congenital radioulnar synostosis MONDO:0017986 disorder of plasmalogens biosynthesis disorder of plasmalogens biosynthesis MONDO:0017987 Syringomyelia is characterised by cerebrospinal fluid (CSF)-filled cavities (syrinx) inside the spinal cord, either as a result of a known cause (secondary syringomyelia, SS) or, more rarely, due to an unknown cause (primary syringomyelia, PS). hydromyelia syringomyelia https://rarediseases.info.nih.gov/diseases/7725/syringomyelia MONDO:0017988 Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic. multifocal atrial tachycardia (disease) MAT chaotic atrial tachycardia multifocal atrial tachycardia multifocal atrial tachycardia (disease) multifocal atrial tachycardia MONDO:0017989 His bundle tachycardia is a very rare congenital genetic tachyarrhythmia characterized by incessant tachycardia and high morbidity and mortality. JET junctional ectopic tachycardia His bundle tachycardia https://rarediseases.info.nih.gov/diseases/2706/his-bundle-tachycardia MONDO:0017990 Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death. CPVT bidirectional tachycardia induced by catecholamine catecholaminergic polymorphic ventricular tachycardia double tachycardia induced by catecholamines malignant paroxysmal ventricular tachycardia multifocal ventricular premature beats ventricular tachycardia, catecholaminergic polymorphic catecholamine-induced polymorphic ventricular tachycardia familial polymorphic ventricular tachycardia polymorphic catecholergic ventricular tachycardia stress-induced polymorphic ventricular tachycardia syncopal paroxysmal tachycardia catecholaminergic polymorphic ventricular tachycardia MONDO:0017991 A rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm. https://github.com/monarch-initiative/mondo/issues/5166 Takayasu arteritis Takayasu's arteritis Takayasu's disease aortic arch arteritis aortic arch syndrome cervical aortic arch idiopathic aortitis pharyngeal arch artery syndromic disease TA Takayasu disease Young female arteritis pulseless disease Takayasu arteritis MONDO:0017992 https://github.com/monarch-initiative/mondo/issues/4985 autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis MONDO:0017993 A rare but serious cerebrovascular disorder involving thrombosis of the cerebral venous system. It affects children from the newborn period through childhood and adolescence. In childhood CSVT, acute infections of the head and neck such as mastoiditis are most common, followed by chronic underlying diseases such as nephrotic syndrome, cancer, and inflammatory bowel disease. Signs and symptoms are also age related. Seizures and altered mental status are the commonest manifestations in newborns. Headache, vomiting, and lethargy, sometimes with 6th nerve palsy, are the most common symptoms in children and adolescents. CSVT cerebral sinovenous thrombosis MONDO:0017994 severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency MONDO:0017995 https://github.com/monarch-initiative/mondo/issues/5588 spondylocostal dysostosis-hypospadias-intellectual disability syndrome MONDO:0017997 Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia. telecanthus-hypertelorism-strabismus-pes cavus syndrome MONDO:0017998 Any neurodegeneration with brain iron accumulation in which the cause of the disease is a mutation in the PLA2G6 gene. PLA2G6 neurodegeneration with brain iron accumulation PLAN neurodegeneration with brain iron accumulation caused by mutation in PLA2G6 PLA2G6-associated neurodegeneration MONDO:0017999 Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus. FAHN fatty acid hydroxylase-associated neurodegeneration MONDO:0018000 Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly. familial thrombocytosis with transverse limb defect thrombocythemia with distal limb defects hereditary thrombocytosis with transverse limb defect MONDO:0018001 cutaneous hemangioma with muscle or bone atrophy inverse Klippel-Trénaunay syndrome inverse Klippel-Trenaunay syndrome MONDO:0018002 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases. adult-onset CPEO with mitochondrial myopathy adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy MONDO:0018003 limbic encephalitis with DPPX antibodies limbic encephalitis with dipeptidyl-peptidase 6 antibodies limbic encephalitis with DPP6 antibodies MONDO:0018004 non-DS-AMKL acute megakaryoblastic leukemia without down syndrome MONDO:0018005 Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported. spastic paraplegia-Paget disease of bone syndrome MONDO:0018006 Adult-onset distal myopathy due to VCP mutation is a rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles. adult-onset distal myopathy due to VCP mutation MONDO:0018007 Mosaic genome-wide paternal UPD androgenetic/biparental mosaicism genome-wide paternal uniparental disomy mosaicism mosaic genome-wide paternal uniparental disomy MONDO:0018008 IGCM idiopathic giant cell myocarditis MONDO:0018009 Non-hypoproteinemic hypertrophic gastropathy is a rare gastroesophageal disease characterized by diffusely enlarged gastric folds, excessive mucus secretion, normal serum protein and gastric TGF-alpha levels. Patients typically present anemia, abdominal pain not related to eating or bowel habits and absence of peripheral edema. hypertrophic gastropathy without hypoproteinemia non-hypoproteinemic hypertrophic gastropathy MONDO:0018010 JIIM juvenile idiopathic inflammatory myopathy MONDO:0018011 Juvenile overlap myositis is a rare juvenile idiopathic inflammatory myopathy characterized by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (e.g. systemic lupus erythematosus, localized scleroderma, diabetes). Cardiac involvement has been reported in some patients. juvenile overlap myositis MONDO:0018013 C3 glomerulopathy non-Ig-mediated MPGN non-Ig-mediated membranoproliferative glomerulonephritis non-immunoglobulin-mediated MPGN non-immunoglobulin-mediated membranoproliferative glomerulonephritis MONDO:0018014 Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother. transient neonatal MAD deficiency transient neonatal MADD transient neonatal glutaric acidemia type 2 transient neonatal glutaric aciduria type 2 transient neonatal multiple acyl-CoA dehydrogenase deficiency MONDO:0018015 intermittent hydrarthrosis MONDO:0018016 Classic endocrine tumor of the appendix is a type of endocrine tumor of the appendix, seen twice as frequently in females than in males, and usually presenting before the fifth decade of life. Classic endocrine tumor of the appendix is usually asymptomatic when located in the tip of the appendix (without obstruction), but acute appendicitis is often associated. classic appendiceal neuroendocrine tumor classic appendix neuroendocrine tumor classic neuroendocrine tumor of appendix MONDO:0018017 An aggressive type of endocrine tumor of the appendix presenting equally in males and females in the fifth decade of life and manifesting with a palpable mass and abdominal pain or acute appendicitis. Metastasis to the ovaries, peritoneum or right colon has usually already occurred in half of patients at the time of diagnosis. https://github.com/monarch-initiative/mondo/issues/4635 GCC appendix adenocarcinoid tumor appendix goblet cell carcinoid appendix goblet cell carcinoid tumor appendix mixed carcinoid-adenocarcinoma carcinoma of goblet cell goblet cell adenocarcinoid goblet cell carcinoid goblet cell carcinoid of appendix goblet cell carcinoid of the appendix goblet cell carcinoid tumor goblet cell carcinoma goblet cell tumor mucinous carcinoid tumor mucinous carcinoid goblet cell carcinoma MONDO:0018018 ATTRwt amyloidosis ATTRwt-related amyloidosis SSA Senile systemic amyloidosis wild type ATTR-related amyloidosis wild type ATTR amyloidosis MONDO:0018019 5 ug/dL) is reported to lead to irreversible effects such as loss of cognition, shortening of attention span, alteration of behavior, dyslexia, attention deficit disorder, hypertension, renal impairment, immunotoxicity and toxicity to the reproductive organs. Lead intoxication plumbism saturnism lead poisoning MONDO:0018020 Mercury poisoning is caused mainly through ingestion or inhalation of any of the 3 forms of mercury, elemental, organic, and inorganic. Exposure to elemental mercury affects the pulmonary (inhalation of mercury vapors causes coughing, chills, fever, shortness of breath), dermatological (mild swelling, vesiculation, scaling, irritation, urticaria, erythema and allergic contact dermatitis accompanied by pain), and peripheral and central nervous (CNS) systems (depression, paranoia, extreme irritability, hallucinations, inability to concentrate, memory loss, hands, head, lips, tongue, jaw and eyelids tremors, weight loss, perpetually low body temperature, drowsiness, headaches, insomnia, fatigue). Exposure to inorganic mercury generally causes development of a metallic taste, local oropharyngeal pain, nausea, vomiting, bloody diarrhea, colic abdominal pain, renal dysfunction and, neurologic abnormalities; while that to organic mercury can lead to delayed neurotoxicity. Mercury intoxication hydrargyria mercurialism Mercury toxicity mercury poisoning https://rarediseases.info.nih.gov/diseases/7021/mercury-poisoning MONDO:0018021 hypotrichosis-deafness syndrome MONDO:0018022 HbLepore-beta-thalassemia syndrome Lepore-beta-thalassemia syndrome hemoglobin Lepore-beta-thalassemia syndrome MONDO:0018023 https://github.com/monarch-initiative/mondo/issues/4521 M hemoglobinopathy methemoglobinemia, beta type autosomal dominant methemoglobinemia blue baby syndrome hereditary methemoglobinemia due to hemoglobin mutation methemoglobinemia, beta-globin type hemoglobin M disease MONDO:0018024 A rare skin disorder of unknown etiology affecting children. It is a photodermatitis, characterized by the formation of vesicles and scarring on sun exposed areas. hV hydroa vacciniforme https://rarediseases.info.nih.gov/diseases/9654/hydroa-vacciniforme MONDO:0018025 actinic reticuloid chronic photosensitivity dermatitis chronic actinic dermatitis MONDO:0018026 The presence of four sets of chromosomes. It is associated with abnormalities, multiple; and miscarrages. tetraploidy tetraploidy syndrome https://rarediseases.info.nih.gov/diseases/5151/tetraploidy MONDO:0018027 Isodicentric chromosome 15 syndrome is a chromosome abnormality that affects many different parts of the body. As the name suggests, people with this condition have an extra chromosome (called an isodicentric chromosome 15) which is made of two pieces of chromosome 15 that are stuck together end-to-end. Although the severity of the condition and the associated features vary from person to person, common signs and symptoms include poor muscle tone in newborns; developmental delay; mild to severe intellectual disability; delayed or absent speech; behavioral abnormalities; and seizures. Most cases of isodicentric chromosome 15 syndrome occur sporadically in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person. Duplication/inversion type 15q11 Inv dup(15) Invdup(15) Isodicentric 15 chromosome duplication/inversion 15q11 idic(15) non-distal tetrasomy 15q non-telomeric tetrasomy 15q Isodicentric chromosome 15 syndrome chromosome 15q tetrasomy inverted duplication 15 tetrasomy 15q duplication/inversion 15q11 https://rarediseases.info.nih.gov/diseases/5153/isodicentric-chromosome-15-syndrome MONDO:0018028 Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, venriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia). https://github.com/monarch-initiative/mondo/issues/3492 Isochromosome 5p tetrasomy type 5p tetrasomy 5p MONDO:0018029 Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis frequently associated with spontaneous abortions and defective wound healing. Factor XIII deficiency is one of the most rare coagulation factor deficiencies. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/5537 fibrin-stabilizing factor deficiency deficiency, Laki-Lorand factor factor XIII deficiency disease hereditary factor XIII deficiency disease factor XIII deficiency fibrin stabilizing factor deficiency congenital factor XIII deficiency MONDO:0018030 Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus), cleft lip/palate, skeletal abnormalities (hypoplastic nails/distal phalanges, short stature, short neck, contractures), congenital heart defects, renal and urogenital malformations (renal hypoplasia, genital hypoplasia, cryptorchidism). https://github.com/monarch-initiative/mondo/issues/3492 Isochromosome 9p tetrasomy type 9p Mosaic tetrasomy 9p chromosome 9p tetrasomy tetrasomy of short arm of chromosome 9 tetrasomy 9p https://rarediseases.info.nih.gov/diseases/42/tetrasomy-9p MONDO:0018031 Granulomatous slack skin (GSS) is a variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by the presence of circumscribed areas of pendulous lax skin. granulomatous slack skin granulomatous slack skin disease MONDO:0018034 A group of anomalies presented in infants as a result of in utero exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment. fetal thalidomide syndrome thalidomide embryopathy syndrome thalidomide-induced birth defect thalidomide embryopathy MONDO:0018037 A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections. HIES hyper-IgE recurrent infection syndrome hyperimmunoglobulin E syndrome hyper-IgE syndrome MONDO:0018039 Selective IgM deficiency (SIgMD) is a rare immune disorder that has been reported in association with serious infections, such as bacteria in the blood (bacteremia, also known as septicemia). Although SIgMD was first described in two children, the disorder can occur in babies, children, and adults. It is characterized by isolated absence or deficiency of immunoglobulin M (IgM), normal levels of other immunoglobulins, and recurrent infections (especially by Staphylococcus aureus, Streptococcus pneumoniae, Hemophilus influenza). The cause is still unclear. The diagnosis includes isolated deficiency ofIgM in the blood and no other immunodeficiency or secondary cause of low IgM. Patients with SIgMD and recurrent infections are managed like other antibody defects and deficiencies. It is suggested that people with SIgMD have pneumococcal and meningococcal vaccines, people with SIgMD who have recurrent infections should have prophylactic antibiotics and immune globulin replacement. selective IgM deficiency disease selective immunoglobulin M deficiency SIgMD selective IgM deficiency https://rarediseases.info.nih.gov/diseases/12547/selective-igm-deficiency MONDO:0018043 Thomas syndrome is characterised by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive. Potter sequence-cleft lip/palate-cardiopathy syndrome Thomas syndrome MONDO:0018044 Idiopathic hypersomnia is a sleep disorder classified in two forms: idiopathic hypersomnia with long sleep time and idiopathic hypersomnia without long sleep time. primary hypersomnia idiopathic hypersomnolence idiopathic hypersomnia https://rarediseases.info.nih.gov/diseases/8737/idiopathic-hypersomnia MONDO:0018045 Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia. progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia Hoyeraal Hreidarsson syndrome Hoyeraal-Hreidarsson syndrome MONDO:0018046 Braddock Carey syndrome congenital thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay thrombocytopenia Robin sequence thrombocytopenia-robin sequence syndrome MONDO:0018047 thrombomodulin anomalies, familial familial thrombomodulin anomalies https://rarediseases.info.nih.gov/diseases/5195/thrombomodulin-anomalies-familial MONDO:0018048 Heparin-induced thrombocytopenia (HIT) is a drug-induced, immune-mediated prothrombotic disorder associated with thrombocytopenia and venous and/or arterial thrombosis. heparin-induced thrombocytopenia (disease) HAT HIT heparin-associated thrombocytopenia heparin-induced thrombocytopenia heparin-induced thrombocytopenia (disease) heparin-induced thrombocytopenia type 2 heparin-induced thrombocytopenia MONDO:0018050 Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. SHFLD syndrome SHFM associated with aplasia of long bones TH-SHFM aplasia of tibia with split-hand/split-foot deformity split hand/foot malformation with long bone deficiency split-hand/foot malformation associated with aplasia of long bones tibial hemimelia with split hand/foot malformation tibial hemimelia-ectrodactyly syndrome SHFLD aplasia of tibia with ectrodactyly ectrodactyly with aplasia of long bones split-hand/foot malformation with long bone deficiency tibial aplasia with split-hand/split-foot deformity tibial aplasia-ectrodactyly syndrome https://rarediseases.info.nih.gov/diseases/1369/cleft-hand-absent-tibia MONDO:0018051 Jessner lymphocytic infiltration of the skin (JLIS) is a chronic benign cutaneous disease characterized by asymptomatic non-scaly erythematous papules or plaques on the face and neck. Jessner-Kanof lymphocytic infiltration of the skin Jessner disease Jessner-Kanof syndrome benign chronic T-cell infiltrative disorder benign lymphocytic infiltration lymphocytic infiltrate of Jessner Jessner lymphocytic infiltration of the skin https://rarediseases.info.nih.gov/diseases/6940/lymphocytic-infiltrate-of-jessner MONDO:0018053 Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins). trichothiodystrophy syndrome trichothiodystrophy MONDO:0018054 An autosomal dominant heart condition that causes disruptions in the heart's normal rhythm. This condition is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular. ATFB hereditary atrial fibrillation (disease) atrial fibrillation autosomal dominant atrial fibrillation, familial autosomal dominant atrial fibrillation Editor note: DO def states this as being in ATFB but this is not correct familial atrial fibrillation MONDO:0018055 Pediatric hepatocellular carcinoma (pediatric HCC) is a rare, aggressive, malignant hepatic tumor that develops mainly in children over 10 years of age. hepatocellular cancer Pediatric carcinoma of the liver cell childhood carcinoma of the liver cell childhood hepatocellular carcinoma childhood-onset HCC childhood-onset hepatocellular carcinoma pediatric HCC childhood carcinoma of liver cell childhood hepatoma childhood liver cell carcinoma pediatric carcinoma of liver cell pediatric hepatoma pediatric liver cell carcinoma pediatric hepatocellular carcinoma MONDO:0018056 Bullous lichen planus is a variant of rare lichen planus characterized by the development of vesico-bullous lesions. bullous lichen planus MONDO:0018058 Tracheal agenesis (TA) is a rare congenital malformation in which the trachea may be completely absent (agenesis), or partially in place but underdeveloped (atresia). In both cases, proximal-distal communication between the larynx and the alveoli of the lungs is lacking. congenital absence of trachea tracheal absence congenital tracheal agenesis tracheal agenesis https://rarediseases.info.nih.gov/diseases/5233/tracheal-agenesis MONDO:0018059 An acute bacterial disease caused by Neisseria meningitides that presents usually, but not always, with a rash (non blanching petechial or purpuric rash), progressively developing signs of meningitis (fever, vomiting, headache, photophobia, and neck stiffness) and later leading to confusion, delirium and drowsiness. Neck stiffness and photophobia are often absent in infants and young children who may manifest nonspecific signs such as irritability, inconsolable crying, poor feeding, and a bulging fontanel. Meningococcal meningitis may also present as part of early or late onset sepsis in neonates. The disease is potentially fatal. Surviving patients may develop neurological sequelae that include sensorineural hearing loss, seizures, spasticity, attention deficits and intellectual disability. meningococcal meningitis MONDO:0018060 Congenital deficiencies of fibrinogen are coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be frequently combined (hypodysfibrinogenemia). congenital fibrinogen deficiency fibrinogen deficiency, congenital congenital fibrinogen deficiency https://rarediseases.info.nih.gov/diseases/2320/fibrinogen-deficiency-congenital MONDO:0018061 Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, cafC)-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986. Pinheiro-Freire Maia-Miranda syndrome Pinheiro Freire-Maia Miranda syndrome Trichodermodysplasia with dental alterations trichodermodysplasia-dental alterations syndrome MONDO:0018062 Trueb-Burg-Bottani syndrome Tricho-odonto-onychodysplasia with syndactyly Trueb Burg Bottani syndrome ectodermal dysplasia with corkscrew hairs autosomal dominant trichoodontoonychodysplasia-syndactyly https://rarediseases.info.nih.gov/diseases/5376/trueb-burg-bottani-syndrome MONDO:0018063 Nodular non-suppurative panniculitis, known as Weber-Christian disease (WCD), is a rare skin disorder characterized by recurring inflammation in the subcutaneous layer of fat. Pfeiffer-Weber-Christian syndrome Relapsing febrile nodular nonsuppurative panniculitis Relapsing febrile nodular panniculitis WCD Weber - Christian disease Weber-Christian disease Weber-Christian panniculitis idiopathic lobular panniculitis idiopathic nodular panniculitis nodular non-suppurative febrile panniculitis nodular nonsuppurative panniculitis Weber Christian disease panniculitis nodular nonsuppurative nodular non-suppurative panniculitis MONDO:0018064 Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait. Hunter-Rudd-Hoffmann syndrome Hunter Rudd Hoffmann syndrome trigonocephaly-broad thumbs syndrome MONDO:0018065 Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture. non-syndromic metopic craniosynostosis nonsyndromic trigonocephaly isolated trigonocephaly MONDO:0018066 Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). 47,XXX 47,XXX syndrome Triplo-X syndrome XXX syndrome triple X syndrome trisomy X trisomy type X 47 XXX syndrome Triplo X syndrome triple-X chromosome syndrome triple-X female trisomy X https://rarediseases.info.nih.gov/diseases/5672/47-xxx-syndrome MONDO:0018067 Triploidy is a chromosome abnormality that occurs when there is an extra set of chromosomes present in each cell. Most pregnancies affected by triploidy are lost through early miscarriage. However, reports exist of some affected babies living up to five months. Those that survive are often mosaic. The signs and symptoms associated with triploidy vary but may include a variety of birth defects and an unusually small size. This condition does not run in families and is not associated with maternal or paternal age. Treatment is based on the signs and symptoms present in each person. chromosome triploidy syndrome triploid syndrome triploidy syndrome triploidy https://rarediseases.info.nih.gov/diseases/5295/triploidy MONDO:0018068 Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation. https://github.com/monarch-initiative/mondo/pull/5597#issuecomment-1316149238 Patau syndrome Patau's syndrome trisomy 13 trisomy type 13 D trisomy syndrome (formerly) D1 trisomy chromosome 13, trisomy 13 complete trisomy 13 MONDO:0018069 Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (incl. microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated. https://github.com/monarch-initiative/mondo/issues/3492 distal duplication 17q distal trisomy type 17q telomeric duplication 17q trisomy 17qter distal trisomy 17q MONDO:0018070 Familial multiple fibrofolliculoma is a genodermatosis characterised by the presence of multiple hamartomas of the hair follicle. It has been described in one family so far. multiple fibrofolliculoma familial familial multiple fibrofolliculoma https://rarediseases.info.nih.gov/diseases/3831/multiple-fibrofolliculoma-familial MONDO:0018071 Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations. E3 trisomy Edwards syndrome chromosome 18 duplication complete trisomy 18 syndrome trisomy 18 trisomy type 18 18 trisomy chromosome 18 trisomy trisomy 16-18 (formerly) trisomy E (formerly) trisomy 18 MONDO:0018072 A rare congenital cardiovascular disorder characterized by the failure of the embryologic structure truncus arteriosus to divide into the aorta and pulmonary trunk. It results in the presence of a single vessel instead of two vessels leading out of the heart. Clinical signs and symptoms include cyanosis that is present at birth, poor growth, dyspnea, tachypnea, arrhythmia, cardiomegaly, and heart failure. If it is not surgically repaired, it leads to death. persistent truncus arteriosus (disease) TAC common aorticopulmonary trunk common arterial trunk common truncus arteriosus persistent truncus arteriosus persistent truncus arteriosus (disease) truncus arteriosus persistent truncus arteriosus MONDO:0018075 A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida. NTD spinal dysraphism neural tube defect MONDO:0018076 A chronic, recurrent infection caused by the bacterium Mycobacterium tuberculosis. Tuberculosis (TB) may affect almost any tissue or organ of the body with the lungs being the most common site of infection. The clinical stages of TB are primary or initial infection, latent or dormant infection, and recrudescent or adult-type TB. Ninety to 95% of primary TB infections may go unrecognized. Histopathologically, tissue lesions consist of granulomas which usually undergo central caseation necrosis. Local symptoms of TB vary according to the part affected; acute symptoms include hectic fever, sweats, and emaciation; serious complications include granulomatous erosion of pulmonary bronchi associated with hemoptysis. If untreated, progressive TB may be associated with a high degree of mortality. This infection is frequently observed in immunocompromised individuals with AIDS or a history of illicit IV drug use. tuberculosis disease active tuberculosis Kochs disease TB tuberculosis https://rarediseases.info.nih.gov/diseases/7827/tuberculosis MONDO:0018077 Tularemia is an infection caused by the bacterium Francisella tularensis. It is more common in rodents and rabbits but has been found in other animals including domestic cats, sheep, birds, and hamsters. Humans can become infected in several different ways: by handling infected animals, through tick or deer fly bites, by drinking contaminated water, or by inhaling contaminated dust or aerosols. Person-to-person transmission has not been reported. The type of tularemia and the particular signs and symptoms vary depending on how the bacteria enter the body. However, fever is seen in most cases. Though tularemia can be life-threatening, most infections can be treated with antibiotics. Francisella tularensis caused disease or disorder Francisella tularensis disease or disorder Francisella tularensis infectious disease Deerfly fever Francisella tularensis infection Ohara disease Pahvant Valley plague Yatobyo (Japan) lemming fever rabbit fever tularemia https://rarediseases.info.nih.gov/diseases/396/tularemia MONDO:0018078 A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones. malignant soft tissue tumor connective tissue sarcoma malignant mesenchymal tumor non-Rhabdo. soft tissue sarcoma sarcoma of soft tissue sarcoma of the soft tissue soft part sarcoma soft tissue sarcoma soft tissue sarcoma MONDO:0018079 An epithelial neoplasm that affects the thymus gland. This category includes thymomas and carcinomas. TEN Thymus epithelial neoplasm Thymus epithelial tumor epithelial neoplasm of Thymus epithelial neoplasm of the Thymus epithelial tumor of Thymus epithelial tumor of the Thymus thymic epithelial tumor thymic epithelium neoplasm thymus epithelial neoplasm Tet thymoma, adult thymic epithelial neoplasm MONDO:0018081 Hemorrhagic fever with renal syndrome (HFRS) is a rodent-borne potentially severe hemorrhagic disease caused by Old World Hantaviruses characterized by high fever, malaise, headache, myalgia, arthralgia, backache, abdominal pain, oliguria/renal failure and systemic hemorrhagic manifestations. Hantavirosis Hantavirus fever hemorrhagic fever-renal syndrome MONDO:0018082 Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle. aorto-ventricular tunnel (disease) aorto-ventricular tunnel aorto-ventricular tunnel (disease) aorto-ventricular tunnel MONDO:0018083 A benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age. https://github.com/monarch-initiative/mondo/issues/4615 transient neonatal tyrosinemia transient tyrosinemia of the neonate tyrosine-oxidase temporary deficiency transient tyrosinemia of the newborn MONDO:0018084 Uhl anomaly is characterized by an almost complete absence of the myocardium in the right ventricle resulting in a thin walled nonfunctional right ventricle manifesting with cardiac arrhythmias and right ventricular failure. Cases of partial absence of right ventricular myocardium which remains asymptomatic or mildly symptomatic until adulthood have also been reported. Patients presenting with complete Uhl anomaly should be considered for cardiac transplantation. Uhl's anomaly parchment right ventricle Editor note: check xrefs Uhl anomaly MONDO:0018085 Umbilical cord ulceration-intestinal atresia syndrome is characterised by congenital intestinal atresia, umbilical cord ulceration and severe intrauterine haemorrhage. umbilical cord ulcer with intestinal atresia umbilical cord ulceration and intestinal atresia umbilical ulceration and intestinal atresia umbilical cord ulceration-intestinal atresia syndrome MONDO:0018086 Ulerythema ophryogenesis is characterised by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection. keratosis pilaris affecting the follicles of the eyebrow hairs type of genodermatosis ulerythema ophryogenesis https://rarediseases.info.nih.gov/diseases/5395/ulerythema-ophryogenesis MONDO:0018087 A viral infectious disease caused by RNA viruses in the Arenaviridae, Bunyaviridae, Filoviridae, or Flaviviridae family, and characterized by a severe multisystem syndrome, with damage to the vascular system and hemorrhaging. haemorrhagic fever hemorrhagic fever hemorrhagic fevers VHF VHFs haemorrhagic fevers, viral viral haemorrhagic fever viral hemorrhagic fever https://rarediseases.info.nih.gov/diseases/5494/viral-hemorrhagic-fever MONDO:0018088 Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles. FMF benign paroxysmal peritonitis benign recurrent polyserositis familial paroxysmal polyserositis periodic disease familial Mediterranean fever MONDO:0018089 Double outlet right ventricle (DORV) is a rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle. DORV Dextrotransposition of aorta double outlet right ventricle double outlet right ventricle MONDO:0018090 Double-outlet left ventricle (DOLV) is an extremely rare congenital cardiac malformation in which both the aorta and the pulmonary artery arise, either exclusively or predominantly, from the morphologic left ventricle. double outlet left ventricle (disease) DOLV Double outlet left ventricle double outlet left ventricle (disease) double outlet left ventricle MONDO:0018091 Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait. https://github.com/monarch-initiative/mondo/issues/5588 Viljoen-Kallis-Voges syndrome Viljoen Kallis Voges syndrome microcephaly brachydactyly kyphoscoliosis microcephaly, short stature, brachydactyly type D, flattened occiput, low-set large ears, prominent nose, kyphoscoliosis and intellectual disability microcephaly-brachydactyly-kyphoscoliosis syndrome https://rarediseases.info.nih.gov/diseases/5490/viljoen-kallis-voges-syndrome MONDO:0018092 A bilateral, chronic, diffuse granulomatous panuveitis typically characterized by serous retinal detachment and frequently associated with neurological (meningitis), auditory, and dermatological alterations. Harada's disease Uveomenigitic syndrome Vogt-Koyanagi syndrome uveomeningoencephalitic syndrome VKH disease VKH syndrome Vogt-Koyanagi-Harada syndrome Vogt-Koyanagi-Harada disease https://rarediseases.info.nih.gov/diseases/7862/vogt-koyanagi-harada-disease MONDO:0018093 Arbovirosis are polymorphic diseases caused by arboviruses and are classically characterized by encephalitis and hemorrhage, however, most commonly only aspecific fever is observed. arbovirus fever Arbovirosis arbovirus fever https://rarediseases.info.nih.gov/diseases/432/arbovirosis MONDO:0018094 A disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes. https://github.com/monarch-initiative/mondo/issues/5682 Waardenburg Shah syndrome Waardenburg syndrome Waardenburg's syndrome van der Hoeve Halbertsona Waardenburg syndrome Waardenburg, types I and/or II Mende syndrome Van der Hoeve Halbertsma Waardenburg Gualdi syndrome Waardenburg syndrome MONDO:0018095 Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977. https://github.com/monarch-initiative/mondo/issues/5588 Weaver-Williams syndrome MONDO:0018096 Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma. Marchesani-Weill syndrome congenital mesodermal dystrophy mesodermal Dysmorphodystrophy, congenital spherophakia brachymorphia syndrome spherophakia-brachymorphia syndrome WM syndrome WMS mesodermal dysmorphodystrophy congenital Weill-Marchesani syndrome MONDO:0018097 West syndrome (or infantile spasms) is characterised by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development. https://github.com/monarch-initiative/mondo/issues/5588 infantile spasms intellectual disability-hypsarrhythmia syndrome Infantile spasms syndrome West's syndrome X-linked infantile spasm syndrome X-linked infantile spasms tonic spasms with clustering, arrest of psychomotor development and hypsarrhythmia on EEG Editor note: check placement of OMIM IDs and EIEE subtypes West syndrome MONDO:0018098 Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult onset of progressive cardiac conduction defects that begin with cardiac dysrhythmia. Congestive heart failure and symptoms of progressive muscle weakness (present in a proximal distribution) tend to occur later. Affected patients may present only the cardiac features of the disease. Additional features include exertional dyspnea, calf hypertrophy, elevated creatine kinase serum levels and muscle cytoplasmic inclusions. LGMD1E limb-girdle muscular dystrophy type 1E Terminology notes: See comments for LGMD1D autosomal dominant limb-girdle muscular dystrophy type 1E (DES) MONDO:0018100 A hereditary disorder that leads to a selective defect in renal or intestinal magnesium absorption, resulting in a low serum magnesium concentration. hypomagnesemia HOMG familial primary hypomagnesemia primary familial hypomagnesemia familial primary hypomagnesemia MONDO:0018101 Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay. familial primary hypomagnesemia with normocalciuria and normocalcemia MONDO:0018102 The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value. corneal dystrophy (disease) corneal dystrophy corneal dystrophy (disease) Editor note: NCIT distinguishes between acquired and genetic corneal dystrophy MONDO:0018103 Folliculitis decalvans is a rare chronic inflammatory cicatricial alopecia of the scalp occurring in middle-aged adults and characterized by the development of alopecic patches with slowly centrifugal spread predominantly in the vertex and occipital area of the scalp, associated with perifollicular erythema, follicular pustules and hemorrhagic crusts. Quinquaud's decalvans folliculitis Quinquaud's disease Quinquaud’s disease folliculitis decalvans Quinquaud's folliculitis decalvans https://rarediseases.info.nih.gov/diseases/373/quinquauds-decalvans-folliculitis MONDO:0018105 Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2). DIDMOAD DIDMOAD syndrome WFS Wolfram syndrome diabetes insipidus, diabetes mellitus, optic atrophy, and deafness syndrome diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome diabetes mellitus and insipidus with optic atrophy and deafness Wolfram syndrome MONDO:0018106 Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis. classic xanthinuria hereditary xanthinuria xanthic urolithiasis xanthine dehydrogenase deficiency xanthine stone disease xanthinuria hereditary xanthinuria MONDO:0018107 idiopathic recurrent and disabling cutaneous herpes MONDO:0018108 idiopathic disseminated CMV infection idiopathic disseminated cytomegalovirus infection MONDO:0018109 Fulminant viral hepatitis is a rapid and severe impairment of liver functions (acute liver failure) with hepatic encephalopathy developing less than 8 weeks after the onset of jaundice, secondary to viral hepatitis mainly due to HBV, but also to HAV. https://github.com/monarch-initiative/mondo/issues/4614 fulminant viral hepatitis MONDO:0018110 lethal idiopathic viral infection MONDO:0018111 idiopathic severe pneumococcemia MONDO:0018112 Isolated scaphocephaly is a form of nonsyndromic craniosynostosis characterized by premature fusion of the sagittal suture. isolated dolichocephaly non-syndromic sagittal synostosis isolated scaphocephaly MONDO:0018113 Isolated synostotic plagiocephaly (SP) is a form of nonsyndromic craniosynostosis characterized by premature fusion of one coronal suture leading to skull deformity and facial asymmetry. non-syndromic unicoronal synostosis synostotic plagiocephaly isolated plagiocephaly MONDO:0018114 Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges. non-syndromic bicoronal synostosis isolated brachycephaly MONDO:0018115 A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities. https://github.com/monarch-initiative/mondo/issues/4222 Epidermal hamartoma syndrome epidermal nevus syndrome MONDO:0018116 Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form. galactosaemia galactose intolerance galactosemia galactosemia MONDO:0018117 disorder of phospholipids, sphingolipids and fatty acids biosynthesis MONDO:0018121 An inherited metabolic disease that is has its basis in the disruption of mitochondrial genome maintenance. inborn error of mitochondrial genome maintenance inborn mitochondrial genome maintenance disorder mtDNA maintenance syndrome rare inborn error of mitochondrial genome maintenance mitochondrial DNA maintenance syndrome MONDO:0018122 digital anomalies-intellectual disability-short stature syndrome MONDO:0018123 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features. https://github.com/monarch-initiative/mondo/issues/5588 autosomal recessive intellectual disability due to TRAPPC9 deficiency intellectual disability-obesity-brain malformations-facial dysmorphism syndrome intellectual disability-obesity-brain malformations-facial dysmorphism syndrome MONDO:0018124 Oncogenic osteomalacia is characterized by the development of a tumor that causes the bones to be weakened. This occurs when a tumor secretes a substance called fibroblast growth factor 23 (FGF23). FGF23 inhibits the ability of the kidneys to absorb phosphate. Phosphate is important for keeping bones strong and healthy. Therefore, this disease is characterized by a softening and weakening of the bones (osteomalacia). The disease also results in multiple biochemical abnormalities including high levels of phosphate in the urine (hyperphosphaturia) and low levels of phosphate in the blood (hypophosphatemia). The majority of tumors that cause oncogenic osteomalacia are small and slow-growing. These tumors most commonly occur in the skin, muscles, or bones of the extremities or in the paranasal sinuses around the head. Most of these tumors are benign, meaning they are not associated with cancer. The exact reason that the tumors associated with oncogenic osteomalacia develop is not known. The disease is diagnosed when a person experiences clinical features such as bone weakening and hyperphosphaturia and a tumor is found by imaging of the body. Treatment of the disease consists of surgical removal of the tumor. The symptoms of the disease, including the weakening of the bones, typically resolve once the tumor is removed. Oncogenic hypophosphatemic osteomalacia TIO tumor-induced osteomalacia OO OOM Oncogenic osteomalacia https://rarediseases.info.nih.gov/diseases/9652/oncogenic-osteomalacia MONDO:0018125 Focal epilepsy-intellectual disability-cerebro-cerebellar malformation is a rare, genetic neurological disorder characterized by early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura (anesthetized tongue sensation). When not properly controlled by anti-epileptic medication, weekly frequency and persistance into adult life is observed. focal epilepsy-intellectual disability-dysarthria-ataxia syndrome focal epilepsy-intellectual disability-cerebro-cerebellar malformation MONDO:0018126 A rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli. PMED progressive myoclonus epilepsy with dystonia progressive myoclonic epilepsy with dystonia MONDO:0018127 16q24.1 microdeletion syndrome is a partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects). https://github.com/monarch-initiative/mondo/issues/3664 Del(16)(q24.1) monosomy 16q24.1 16q24.1 microdeletion syndrome MONDO:0018128 Phalangeal microgeodic syndrome is a rare primary osteolysis characterized by multiple small osteolytic areas and sclerosis in the phalanges of one or both hands associated with swelling and redness of the phalanges. Condition is benign, self-limited and may be associated with cold exposure. phalangeal osteolysis phalangeal microgeodic syndrome MONDO:0018129 Autosomal recessive cerebellar ataxia with late-onset spasticity is a rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliolis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated. autosomal recessive cerebellar ataxia due to GBA2 deficiency autosomal recessive cerebellar ataxia with late-onset spasticity MONDO:0018130 Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances. brain dopamine-serotonin vesicular transport disease MONDO:0018131 https://github.com/monarch-initiative/mondo/issues/3664 9q21 microdeletion syndrome Del(9)(q21) neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion MONDO:0018133 Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS, a genetic disorder characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. attenuated Chediak-Higashi syndrome atypical Chediak-Higashi syndrome atypical Chédiak-Higashi syndrome attenuated Chédiak-Higashi syndrome MONDO:0018134 disorder of melanin metabolism MONDO:0018135 Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS). https://github.com/monarch-initiative/mondo/issues/4985 OCA1 oculocutaneous albinism type 1 ATN oculocutaneous albinism, tyrosinase negative oculocutaneous albinism type 1 MONDO:0018136 Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi. MP OCA type 1 OCA1-MP minimal pigment oculocutaneous albinism type 1 MONDO:0018137 Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas). OCA1-TS TS OCA type 1 temperature-sensitive oculocutaneous albinism type 1 MONDO:0018141 Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course. https://github.com/monarch-initiative/mondo/issues/4985 pyruvate carboxylase deficiency type A pyruvate carboxylase deficiency, infantile type pyruvate carboxylase deficiency, infantile form MONDO:0018142 Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy. https://github.com/monarch-initiative/mondo/issues/4985 pyruvate carboxylase deficiency type B pyruvate carboxylase deficiency, severe neonatal type MONDO:0018143 Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development. https://github.com/monarch-initiative/mondo/issues/4985 pyruvate carboxylase deficiency type C pyruvate carboxylase deficiency, benign type MONDO:0018144 https://github.com/monarch-initiative/mondo/issues/4069 congenital myasthenic syndromes with glycosylation defect MONDO:0018145 https://github.com/monarch-initiative/mondo/issues/4069 congenital arteriovenous anastomoses of the retina congenital arteriovenous communication of the retina congenital retinal arteriovenous anastomoses congenital retinal arteriovenous communication MONDO:0018146 A rare, acquired, eye disease characterized by unilateral (rarely bilateral) abnormally dilated and tortuous capillaries around the fovea, associated with multiple arteriolar and venular aneurysms, lipid depositions, and intra-retinal cystoid degeneration. It leads to vision loss due to macular edema with hard exudates. aneurysmal telangiectasia visible and exudative idiopathic juxtafoveolar retinal telangiectasis idiopathic macular telangiectasia type 1 MONDO:0018147 A rare, acquired, eye disease characterized by progressive visual loss, due to bilateral juxtafoveolar capillary occlusions, capillary telangiectasia, and minimal exudation. It is associated with systemic or cerebral vascular occlusive disease. occlusive idiopathic juxtafoveolar retinal telangiectasis idiopathic macular telangiectasia type 3 MONDO:0018148 Vasoproliferative tumor of the retina is a rare, benign, retinal vascular disease characterized by solitary or multiple, unilateral or bilateral, intra-retinal tumor(s), usually located in the peripheral infero-temporal quadrant, and often associated with sub- and intraretinal exudates, epiretinal membranes, exudative retinal detachment and cystoid macular edema, as well as, occasionally, retinal and vitreous hemorrhage. Patients may present with visual loss, floaters, and/or photopsia. Association with various conditions, such as retinitis pigmentosa, congenital retinal toxoplasmosis, retinopathy of prematurity, or coloboma, has been reported. VPTR retinal vasoproliferative tumor vasoproliferative tumor of ocular fundus vasoproliferative tumor of the ocular fundus vasoproliferative tumor of the retina vasoproliferative tumor of retina MONDO:0018149 A rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features. Beta-galactosidase deficiency Beta-galactosidase-1 deficiency GLB1 deficiency GM>1< gangliosidosis Landing disease Landing syndrome beta-galactosidase deficiency deficiency of beta-galactosidase gangliosidosis GM1 Beta galactosidase 1 deficiency Beta-galactosidosis GLB 1 deficiency GM1 gangliosidosis MONDO:0018150 Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease). Gaucher disease Gaucher syndrome Gaucher's disease acid beta-glucosidase deficiency glocucerebrosidase deficiency glucocerebrosidase deficiency glucocerebrosidosis glucosylceramidase deficiency glucosylceramide beta-glucosidase deficiency kerasin thesaurismosis lipoid histiocytosis (kerasin type) acute cerebral Gaucher disease Gaucher splenomegaly cerebroside lipidosis syndrome glucosyl cerebroside lipidosis kerasin histiocytosis kerasin lipoidosis sphingolipidosis 1 Gaucher disease MONDO:0018151 A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency. CoQ10 deficiency coenzyme Q10 deficiency disease coenzyme Q10 deficiency, primary CoQ10 deficiency, primary coenzyme Q10 deficiency https://rarediseases.info.nih.gov/diseases/10423/coenzyme-q10-deficiency MONDO:0018152 Serpiginous choroiditis is a rare inflammatory eye condition that typicallydevelops betweenage 30 and 70 years. Affected individuals have lesions in the eye thatlast from weeks to months and involve scarringof the eye tissue.Recurrence of these lesionsis common in serpiginous choroiditis. Vision loss may occurin one or both eyeswhen the macula is involved. Treatment options involve anti-inflammatory and immune-suppressing medications. geographic helicoid peripapillary choroidopathy geographic choroiditis geographic helicoid peripapillary choroidopathy (GHPC) geographic serpiginous choroiditis peripapillary choriopathy serpiginous choroidopathy serpiginous choroiditis https://rarediseases.info.nih.gov/diseases/31/serpiginous-choroiditis MONDO:0018153 Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement. Erdheim-Chester disease lipogranulomatosis polyostotic sclerosing histiocytosis ECD Erdheim Chester disease lipoid granulomatosis Erdheim-Chester disease MONDO:0018154 Madelung disease, or deformity (MD) is a predominantly bilateral wrist anomaly characterized by shortened and bowed radii and long ulnae leading to dorsal dislocation of the distal ulna and limited mobility of the wrist and elbow. Madelung deformity MONDO:0018155 Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production. PLS adult-onset PLS adult-onset primary lateral sclerosis primary lateral sclerosis lateral sclerosis MONDO:0018156 https://github.com/monarch-initiative/mondo/issues/3664 3q26-q27microdeletion syndrome Del(3)(q26q27) monosomy 3q26-q27 monosomy 3q26q27 3q26q27 microdeletion syndrome MONDO:0018158 The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome. mtDNA depletion syndrome mitochondrial DNA depletion syndrome MONDO:0018159 D-HUS with DGKE deficiency aHUS with DGKE deficiency atypical HUS with DGKE deficiency hemolytic-uremic syndrome without diarrhea with DGKE deficiency atypical hemolytic-uremic syndrome with DGKE deficiency MONDO:0018160 An inherited malignant tumor that originates in the nuclear layer of the retina. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma. https://github.com/monarch-initiative/mondo/issues/2760#issuecomment-894549526 https://github.com/monarch-initiative/mondo/issues/4521 RB1 familial retinoblastoma hereditary retinoblastoma retinoblastoma, autosomal dominant, somatic mutation retinoblastoma, trilateral, autosomal dominant, somatic mutation hereditary retinoblastoma MONDO:0018161 non-hereditary retinoblastoma MONDO:0018162 Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency. https://github.com/monarch-initiative/mondo/issues/3886#issuecomment-993772000 MONDO:0019058 neurometabolic disorder due to serine deficiency serine deficiency This term was considered for obsoletion, but it is used by ClinGen and they requested we keep it. neurometabolic disorder due to serine deficiency MONDO:0018163 An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24. https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5048 ARCL2A autosomal recessive cutis laxa type 2A autosomal recessive cutis laxa type IIA cutis laxa with Joint laxity and retarded development cutis laxa with bone dystrophy cutis laxa with congenital disorder of glycosylation cutis laxa with growth and developmental delay cutis laxa, autosomal recessive type 2A cutis laxa, autosomal recessive, type 2A cutis laxa, autosomal recessive, type IIA cutis laxa, debre type autosomal recessive cutis laxa type 2A MONDO:0018164 Arterial thoracic outlet syndrome (ATOS) is a form of thoracic outlet syndrome (TOS) that presents as unilateral upper extremity ischemia. ATOS arterial TOS arterial cervical rib syndrome arterial costoclavicular syndrome arterial hyperabduction syndrome arterial scalenus anticus syndrome arterial thoracic outlet compression syndrome arterial thoracic outlet syndrome MONDO:0018165 Venous thoracic outlet syndrome (VTOS) is a form of thoracic outlet syndrome (TOS) that manifests as unilateral (rarely bilateral) arm pain and cyanosis. Paget-Schrotter disease VTOS Venous TOS Venous cervical rib syndrome Venous costoclavicular syndrome Venous hyperabduction syndrome Venous scalenus anticus syndrome Venous thoracic outlet compression syndrome effort subclavian vein thrombosis venous thoracic outlet syndrome MONDO:0018166 Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment. OSMF oral cavity submucous fibrosis oral submucosal fibrosis oral submucosal fibrosis, including of tongue oral submucous fibrosis https://rarediseases.info.nih.gov/diseases/7264/oral-submucous-fibrosis MONDO:0018167 Primary essential cutis verticis gyrata is a rare, progressive dermis disorder characterized by thickening of the scalp resulting in redundancy of the skin which gives rise to folds and grooves that give the scalp a cerebriform appearance. Folds cannot be corrected by pressure or traction and typically are symmetric and extend anteroposteriorly from vertex to occiput and/or transversely in occipital region. Additional features may include mild subungual hyperkeratosis and distal onycholysis of the nail plates of the great toes. It is not associated with neurological and ophthalmological changes, nor with secondary causes. primary essential cutis verticis gyrata MONDO:0018168 https://github.com/monarch-initiative/mondo/issues/5588 primary non-essential cutis verticis gyrata MONDO:0018169 Morning glory syndrome (MGS) is an optic neuropathy characterized by a congenital funnel shaped excavation of the posterior fundus that incorporates the optic disc malformation (resembling the morning glory flower) MGS is usually unilateral and may result in a decrease in best-corrected visual acuity (BCVA). MGS either occurs isolated or associated to other ocular or non-ocular anomalies. Ectasic coloboma Volubilis syndrome morning glory syndrome https://rarediseases.info.nih.gov/diseases/13354/morning-glory-syndrome MONDO:0018170 Nephrotic syndrome for which no cause has been identified. idiopathic nephrotic syndrome MONDO:0018171 Malignant germ cell tumor of ovary is a rare ovarian cancer arising from germ cells in the ovary, frequently unilateral at diagnosis which characteristically presents during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen. MOGCT malignant germ cell neoplasm of ovary malignant germ cell neoplasm of the ovary malignant germ cell tumor of ovary malignant germ cell tumor of the ovary malignant ovarian germ cell neoplasm malignant ovarian germ cell tumor ovarian germ cell cancer ovary malignant germ cell tumor malignant germ cell tumor of ovary MONDO:0018172 Malignant sex cord stromal tumor (SCST) of ovary is a rare ovarian cancer arising from granulosa, theca, sertoli and leydig cells or stromal fibroblasts, occurring at any age and presenting with abdominal or pelvic mass, and characterized (with the exception of fibroma) by the production of sex steroids resulting in manifestations of hormone excess, with a relatively favorable prognosis. malignant Sex cord-stromal tumor of ovary malignant Sex cord-stromal tumor of the ovary malignant ovarian SCST malignant ovarian Sex cord-stromal neoplasm malignant ovarian Sex cord-stromal tumor malignant ovarian sex cord-stromal tumor ovarian sex cord-stromal tumor, malignant malignant sex cord stromal tumor of ovary MONDO:0018173 Acute opioid poisoning is a rare intoxication with opioids, a large group of alkaloid analgesics, mainly characterized by miosis (pinpoint pupil), respiratory depression (bradypnea/apnea) and central nervous system depression (sedation or coma). Other manifestations include hypotension, reduced bowel motility, hypothermia and hypoglycemia. Naloxone, a competitive inhibitor of the mu-opioid receptor, is a potent antagonist and is used as the antidote for opioid intoxication. acute opioid poisoning MONDO:0018174 Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities. hereditary glaucoma (disease) glaucoma, hereditary hereditary glaucoma https://rarediseases.info.nih.gov/diseases/2486/glaucoma-hereditary MONDO:0018175 Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms. F5F8D FV and FVIII combined deficiency combined deficiency of factor V and factor type VIII familial multiple coagulation factor deficiency combined deficiency of factor V and factor VIII MONDO:0018177 The most malignant astrocytic tumor (WHO grade IV). It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma, IDH-mutant), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma, IDH- wildtype). (Adapted from WHO) https://github.com/monarch-initiative/mondo/issues/5798 glioblastoma (disease) GBM GBM (glioblastoma) WHO grade IV glioma glioblastoma glioblastoma (disease) glioblastoma multiforme glioblastoma multiforme (disease) grade IV astrocytic neoplasm grade IV astrocytic tumor grade IV astrocytoma primary glioblastoma multiforme spongioblastoma multiforme grade IV adult astrocytic tumor giant cell glioblastoma (histologic variant) gliosarcoma (histologic variant) glioblastoma MONDO:0018178 Dilatation of the intestinal lymphatic system usually caused by an obstruction in the intestinal wall. It may be congenital or acquired and is characterized by diarrhea; hypoproteinemia; peripheral and/or abdominal edema; and protein-losing enteropathies. intestinal lymphangiectasia (disease) intestinal lymphangiectasia intestinal lymphangiectasia (disease) intestinal lymphangiectasia MONDO:0018180 staphylococcal scarlet fever MONDO:0018181 A blistering skin disorder caused by exfoliative toxins produced by Staphylococcus aureus infection. The toxins cause the formation of bullae and diffuse skin desquamation. The lesions may be localized or generalized, far away from the initial site of infection. Ritter disease Ritter's disease SSSS dermatitis exfoliativa neonatorum generalized exfoliative disease pemphigus neonatorum scalded skin syndrome staphylococcal scalded skin syndrome toxic epidermal necrolysis, subcorneal type staphylococcal scalded skin syndrome MONDO:0018182 Bullous impetigo is a contagious superficial infection occurring in intact skin. Prevalence in the general population is unknown. The disease is characterized by fragile vesicles and flaccid blisters, most often presenting as erosive lesions covered by a yellow crust. The face, trunk and extremities of children under 5 years of age (particularly neonates) are mainly affected. The disease is generally caused by group II Staphylococcus aureus. bullous impetigo MONDO:0018183 Staphylococcal necrotizing pneumonia is a rare, bacterial, pulmonary infectious disease, caused by a Panton-Valentine leukocidin-producing Staphylococcus aureus strain, characterized by severe respiratory failure, extensive, rapidly progressing pneumonia and hemorrhagic lung necrosis. Patients typically present with influenza-like symptoms, such as fever, cough, and chest pain, as well as hemoptysis, hypotension, leukopenia, and severe respiratory symptoms that rapidly evolve to acute respiratory distress syndrome and septic shock. High mortality is associated. staphylococcal necrotizing pneumonia MONDO:0018184 Gastric linitis plastica (gastric LP) is a malignant, diffuse, infiltrative gastric adenocarcinoma. Borrmann gastric cancer type 4 linitis plastica of the stomach gastric linitis plastica MONDO:0018185 congenital anomaly of the great veins MONDO:0018187 genetic syndromic Pierre Robin syndrome MONDO:0018188 https://github.com/monarch-initiative/mondo/issues/5114 2022-09-01 familial intestinal polyposis Reason: out of scope. MONDO:excludeGeneticFormOfDisease and MONDO:excludeGroupingClass. Term to consider: MONDO:0005020 intestinal disorder genetic intestinal polyposis MONDO:0018189 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome is a rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts. autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome MONDO:0018190 SMALED lower extremity-predominant autosomal dominant proximal spinal muscular atrophy spinal muscular atrophy, lower extremity-predominant autosomal dominant childhood-onset proximal spinal muscular atrophy MONDO:0018191 testicular and paratesticular tumor tumor of testis and paratestis MONDO:0018192 adenocarcinoma of paratestis adenocarcinoma of the paratestis paratesticular adenocarcinoma MONDO:0018193 testicular teratoma (disease) teratoma of testis teratoma of the testis testicular teratoma testicular teratoma (disease) testicular teratoma MONDO:0018197 mtDNA depletion syndrome, hepatocerebrorenal form mitochondrial DNA depletion syndrome, hepatocerebrorenal form MONDO:0018198 Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a rare childhood-onset epilepsy syndrome associated with infection and characterized by a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes of AESD vary from normal to mild or severe sequelae including cerebral atrophy, mental retardation, paralysis and epilepsy. AESD AIEF acute infantile encephalopathy predominantly affecting the frontal lobes acute encephalopathy with biphasic seizures and late reduced diffusion MONDO:0018199 New-onset refractory status epilepticus is an acute encephalopathy with inflammation-mediated status epilepticus characterized by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioral changes or hallucinations. Brain MRI abnormalities and abnormal findings in CSF, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences. Norse De novo cryptogenic refractory multifocal febrile status epilepticus New onset refractory status epilepticus new-onset refractory status epilepticus MONDO:0018201 A germ cell tumor arising in an anatomic site other than the testis or ovary (e.g., central nervous system, lung, mediastinum, and retroperitoneum). extragonadal germ cell neoplasm extragonadal germ cell neoplasms extragonadal germ cell tumor neoplasm of extragonadal germ cell neoplasm of the extragonadal germ cell primary extragonadal germ cell tumor tumor of extragonadal germ cell tumor of the extragonadal germ cell extragonadal germ cell tumor MONDO:0018202 gonadal germ cell tumor MONDO:0018203 A rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies. LCPS LMNA-related cardiocutaneous progeria syndrome MONDO:0018204 20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptororchidism are often associated features. https://github.com/monarch-initiative/mondo/issues/3492 dup(20)(q11.2) 20q11.2 microduplication syndrome MONDO:0018205 1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies. https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/5588 distal deletion 1q distal monosomy type 1q monosomy 1qter telomeric deletion 1q distal monosomy 1q MONDO:0018206 childhood-onset autosomal recessive myopathy with external ophthalmoplegia MONDO:0018207 2p13.2 microdeletion syndrome is a rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy. https://github.com/monarch-initiative/mondo/issues/3664 Del(2)(p13.2) 2p13.2 microdeletion syndrome MONDO:0018208 Von Recklinghausen disease due to NF1 mutation or intragenic deletion neurofibromatosis type 1 due to NF1 mutation or intragenic deletion MONDO:0018209 Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration. AxD type I Alexander disease type I MONDO:0018210 Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms. AxD type II Alexander disease type II MONDO:0018211 Balint syndrome is a rare neurologic disease characterized by the triad of optic ataxia, ocular apraxia and simultanagnosia due to posterior parietal lobe lesions. Patients report ophthalmologic difficulties in the absence of underlying ophthalomologic anomalies and present severe visual and spatial disabilities in locating and reaching objects, initiating voluntary eye movements and perceiving more than one object at a time. Balint-Holmes syndrome optic ataxia-gaze apraxia-simultanagnosia syndrome psychic paralysis of visual fixation Recent research in nonhuman primates (NHPs) suggests that many aspects of Balint's syndrome and optic ataxia are a result of damage to specific functional modules for reaching, saccades, grasp, attention, and state estimation. The deficits from large lesions in humans are probably composite effects from damage to combinations of these functional modules. Interactions between these modules, either within posterior parietal cortex or downstream within frontal cortex, may account for more complex behaviors such as hand-eye coordination and reach-to-grasp. Balint syndrome MONDO:0018212 An instance of cervical artery dissection that is caused by an inherited modification of the individual's genome. familial CAD hereditary CAD hereditary cervical artery dissection familial cervical artery dissection MONDO:0018213 Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset. HSAN1 hereditary sensory and autonomic neuropathy type I HSAN 1 HSN1 hereditary sensory neuropathy type 1 neuropathy hereditary sensory and autonomic type 1 neuropathy hereditary sensory radicular, autosomal dominant hereditary sensory and autonomic neuropathy type 1 MONDO:0018214 A familial epilepsy syndrome in which family members display a seizure disorder from the generalized epilepsy with febrile seizures plus spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS). GEFS+ epilepsy, generalized, with febrile seizures plus generalized epilepsy with febrile seizures plus genetic epilepsy with febrile seizures plus genetic epilepsy with febrile seizures-plus generalized epilepsy with febrile seizures-plus generalized epilepsy with febrile seizures plus MONDO:0018215 A paraneoplastic syndrome that involves the nervous system. PCD PNS nervous system paraneoplastic syndrome paraneoplastic syndrome of nervous system paraneoplastic cerebellar degeneration paraneoplastic neurologic syndrome MONDO:0018216 https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/4174 17q21.31 recurrent microdeletion syndrome Del(17)(q21.31) monosomy 17q21.31 Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome MONDO:0018217 Koolen-de Vries syndrome due to a point mutation MONDO:0018218 autosomal recessive cerebral atrophy MONDO:0018221 Immune hydrops fetalis (IHF), a form of HF, describes the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities due to maternal rhesus (Rh) incompatibility. IHF immune HF immune fetal edema immune fetal hydrops immune hydrops fetalis MONDO:0018222 https://github.com/monarch-initiative/mondo/issues/5588 X-linked intellectual disability due to GRIA3 anomalies MONDO:0018223 Systemic Epstein-Barr virus (EBV)-positive T-cell lymphoproliferative disease of childhood is a rare and very aggressive neoplastic disease emerging after a primary acute or chronic active EBV infection. It presents with persisting fever and malaise, hepatosplenomegaly with or without lymphadenopathy, liver failure, severe pancytopenia and a rapid progression towards multi-organ failure and hemophagocytic syndrome with a fatal issue. It is characterized by clonal proliferation of EBV-infected T cells with an activated cytotoxic phenotype. EBV-positive T-cell lymphoproliferative disorder of childhood systemic EBV+ T-cell LPD of childhood systemic EBV-positive T-cell lymphoma of childhood systemic EBV-positive T-cell lymphoproliferative disease of childhood systemic EBV-positive T-cell lymphoproliferative disorder of childhood systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood MONDO:0018224 A rare, EBV-positive cutaneous T-cell lymphoproliferative disorder, composed of CD8 positive cytotoxic T-lymphocytes. It affects children, almost exclusively in Latin America and Asia. Patients present with papulovesicular skin lesions, clinically resembling hydroa vacciniforme, in areas of sun-exposed skin. HVLL angiocentric cutaneous T-cell lymphoma of childhood hV-like lymphoma hydroa vacciniforme-like cutaneous T-cell lymphoma hydroa vacciniforme-like lymphoma hydroa vacciniforme-like lymphoproliferative disorder hydroa-like cutaneous T-cell lymphoma hydroa vacciniforme-like lymphoma MONDO:0018225 Anaplastic lymphoma kinase (ALK)-positive diffuse large B-cell lymphoma is a very rare variant of diffuse large B-cell lymphoma (DLBCL) mainly affecting middle-aged immunocompetent men and characterized by a consistent primary involvement of lymph nodes (mainly in the cervical and mediastinum lymph nodes) and with infrequent extra nodal involvement of the bone marrow and other extra-nodal sites (head and neck region, liver, spleen, and gastrointestinal tract). It has an aggressive disease course, and is associated with a poor prognosis. ALK+ LBCL ALK+ large B-cell lymphoma ALK-DLBCL ALK-positive large B-cell lymphoma diffuse large B-cell lymphoma with expression of full-length ALK diffuse large B-cell lymphoma with expression of full-length anaplastic lymphoma kinase ALK-positive large B-cell lymphoma MONDO:0018226 Infantile epileptic-dyskinetic encephalopathy is a monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability. infantile epileptic-dyskinetic encephalopathy MONDO:0018227 Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations. Mac Duffie hypocomplementemic urticarial vasculitis Mac Duffie syndrome McDuffie hypocomplementemic urticarial vasculitis McDuffie syndrome anti-C1q vasculitis hypocomplementemic urticarial vasculitis https://rarediseases.info.nih.gov/diseases/6725/hypocomplementemic-urticarial-vasculitis MONDO:0018228 Bipartite talus is a rare, genetic bone disorder characterized by the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling. bipartite talus MONDO:0018229 Stevens-Johnson syndrome is a limited form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area. Dermatostomatitis, Stevens Johnson type Stevens Johnson syndrome Stevens-Johnson syndrome, susceptibility to erythema multiforme major hypersensitivity syndrome, carbamazepine-induced, susceptibility to severe cutaneous adverse reaction, susceptibility to toxic Epidermal necrolysis, susceptibility to Stevens-Johnson syndrome MONDO:0018230 Any Mendelian diseases that affects growth and development of the skeleton. https://github.com/monarch-initiative/mondo/issues/4995 Mendelian skeletal dysplasia primary bone dysplasia primary osteodysplasia primary skeletal dysplasia skeletal dysplasia MONDO:0018233 Otopalatodigital syndrome spectrum disorder is a primary bone dysplasia and encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group include otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects. OPD spectrum disorder OPSD otopalatodigital syndrome spectrum disorder MONDO:0018234 A group of disorders in which the skeletal involvement is predominantly manifested as abnormalities of individual bones or in a group of bones. https://github.com/monarch-initiative/mondo/issues/4994 dysostosis dysostosis MONDO:0018237 acrofacial dysostosis MONDO:0018239 https://github.com/monarch-initiative/mondo/issues/4948 aggrecan-related bone disorder MONDO:0018240 https://github.com/monarch-initiative/mondo/issues/4948 TRPV4-related bone disorder MONDO:0018241 primary short bowel syndrome MONDO:0018242 An autoimmune form of hypoparathyroidism. autoimmune hypoparathyroidism (disease) autoimmune hypoparathyroidism autoimmune hypoparathyroidism (disease) autoimmune hypoparathyroidism MONDO:0018243 https://github.com/monarch-initiative/mondo/issues/5588 intellectual disability-hyperkinetic movement-truncal ataxia syndrome MONDO:0018244 obesity due to SIM1 deficiency MONDO:0018245 2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria. https://github.com/monarch-initiative/mondo/issues/3664 Del(2)(p21) without cystinuria 2p21 microdeletion syndrome without cystinuria MONDO:0018246 https://github.com/monarch-initiative/mondo/issues/3664 2p21 contiguous gene deletion syndrome homozygous 2p21 microdeletion syndrome MONDO:0018247 CADDS Zellweger-like contiguous gene deletion syndrome contiguous ABCD1 DXS1357E deletion syndrome CADDS MONDO:0018248 Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality. https://github.com/monarch-initiative/mondo/issues/5588 Der(8)t(8;12) intellectual disability-seizures-macrocephaly-obesity syndrome MONDO:0018249 finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome MONDO:0018250 diffuse palmoplantar keratoderma with painful fissures MONDO:0018252 focal palmoplantar keratoderma with joint keratoses MONDO:0018253 https://github.com/monarch-initiative/mondo/issues/5588 intellectual disability-facial dysmorphism-hand anomalies syndrome MONDO:0018254 https://github.com/monarch-initiative/mondo/issues/5280 spondyloepimetaphyseal dysplasia, Isidor type MONDO:0018255 spondylometaphyseal dysplasia, Czarny-Ratajczak type MONDO:0018256 A distinct form of Acute myeloid leukemia (AML) in which this chromosomal anomaly is found de novo or in therapy-related AML cases, and is characterized by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed. AML with t(8;16)(p11;p13) translocation acute myeloid leukemia with t(8;16)(p11;p13) translocation MONDO:0018257 An instance of syringomyelia that is caused by an inherited modification of the individual's genome. hereditary syringomyelia familial syringomyelia MONDO:0018258 Schauder syndrome Angora hair nevus MONDO:0018259 aplasia cutis congenita-nevus sebaceus syndrome didymosis aplasticosebacea MONDO:0018260 sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome scalp syndrome MONDO:0018261 NEVADA (Nevus Epidermicus Verrucosus with AngioDysplasia and Aneurysms) syndrome is a rare, life-threatening, cutaneous disease characterized by a keratinocytic epidermal nevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period. Nevus epidermicus verrucosus with angiodysplasia and aneurysms Nevada syndrome MONDO:0018262 FACS fetal AEDS fetal antiepileptic drug syndrome fetal anticonvulsant syndrome MONDO:0018263 A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to carbamazepine and that is characterized by facial dysmorphism, with some similarities to that seen in fetal valproate syndrome (see this term), such as epicanthal folds, upward slanting palpebral fissures, short nose, micrognathia and malar hypoplasia, as well as nail dysplasia and major anomalies including cleft lip/palate, neural tube defects and cardiac anomalies. In utero exposure to carbamazepine, in combination with valproate, has been associated with significant developmental delay (particularly affecting verbal intelligence) and a high rate of congenital anomalies. fetal carbamazepine syndrome MONDO:0018264 A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity. https://github.com/monarch-initiative/mondo/issues/4521 OCA6 albinism, oculocutaneous, type VI skin/hair/eye pigmentation 4, fair/dark skin oculocutaneous albinism type 6 MONDO:0018266 Ataxia-telangiectasia variant is a rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present. v-AT ataxia - telangiectasia variant MONDO:0018267 combined cervical dystonia MONDO:0018268 Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding. Medich macrothrombocytopenia Medich giant platelet syndrome MONDO:0018269 White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding. platelet granule deficiency disorder Editor note: check relationship to platelet granule deficiency disorder white platelet syndrome https://rarediseases.info.nih.gov/diseases/9282/white-platelet-syndrome MONDO:0018270 A rare malignant neoplasm of the soft tissues. It is typically a disease of children and young adults. Most commonly occurs in the paravertebral region, chest wall, pelvis and lower extremities. Treatment includes local excision with consideration for post-operative chemotherapy and/or radiotherapy. EOE Extra-osseous Ewing's sarcoma extraosseous Ewing sarcoma extraosseous Ewing tumor extraosseous Ewing's sarcoma extraosseous Ewing's tumor extraskeletal Ewing sarcoma extraskeletal Ewing tumor extraskeletal Ewing's sarcoma extraskeletal Ewing sarcoma MONDO:0018271 A small round cell tumor with neural differentiation arising from the soft tissues or bone. https://github.com/monarch-initiative/mondo/issues/4039 PPNET pPNET peripheral PNET peripheral neuroectodermal neoplasm peripheral neuroectodermal tumor peripheral neuroepithelioma peripheral primitive neuroectodermal neoplasm peripheral primitive neuroectodermal tumor Other ontologies classify peripheral neuroepithelioma as a seprate class but NCIT treats these as synonyms and we aim to follow NCIT here. (See HP:0006717, SNOMED:254764001, the "included" disease concept on OMIM:612219, and UMLS:C3489398). peripheral primitive neuroectodermal tumor MONDO:0018273 XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation XYLT1-congenital disorder of glycosylation XYLT18-CDG XYLT1-congenital disorder of glycosylation MONDO:0018274 GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first few weeks after birth, affected infants become irritable and develop feeding difficulties and vomiting that prevent them from growing and gaining weight at the usual rate. Seizures begin within the first year of life and worsen over time. Multiple types of seizures are possible, including generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Some affected children also experience prolonged episodes of seizure activity called nonconvulsive status epilepticus. The seizures associated with GM3 synthase deficiency tend to be resistant (refractory) to treatment with antiseizure medications. https://github.com/monarch-initiative/mondo/issues/5682 Amish infantile epilepsy syndrome GM3 synthase deficiency SPDRS ST3GAL5-CDG disorder of lactosylceramide alpha-2,3-sialyltransferase activity epilepsy syndrome, infantile-onset symptomatic infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome lactosylceramide alpha-2,3-sialyltransferase activity disease salt & pepper syndrome salt and pepper developmental regression syndrome salt-and-pepper syndrome salt and pepper mental retardation syndrome GM3 synthase deficiency MONDO:0018276 CMD due to dystroglycanopathy muscular dystrophy-dystroglycanopathy congenital muscular dystrophy due to dystroglycanopathy muscular dystrophy-dystroglycanopathy MONDO:0018277 https://github.com/monarch-initiative/mondo/issues/4069 CMD with cerebellar involvement CMD-CRB congenital muscular dystrophy with cerebellar involvement MONDO:0018278 https://github.com/monarch-initiative/mondo/issues/4069 CMD with intellectual disability CMD-MR congenital muscular dystrophy with intellectual disability MONDO:0018279 https://github.com/monarch-initiative/mondo/issues/4069 CMD without intellectual disability CMD-no MR congenital muscular dystrophy-dystroglycanopathy without intellectual disability congenital muscular dystrophy without intellectual disability MONDO:0018280 Muscle-eye-brain (MEB) disease with bilateral multicystic leucodystrophy is a form of congenital muscular alpha-dystroglycanopathy with brain and eye anomaly characterized by severe muscle-eye-brain disease-like phenotype associated with macrocephaly and extended bilateral multicystic white matter disease, overlapping with the cerebral findings in patients with megalencephalic leukoencephalopathy with subcortical cysts. MEB disease with bilateral multicystic leucodystrophy muscle-eye-brain disease with bilateral multicystic leucodystrophy MONDO:0018281 Congenital muscular dystrophy with hyperlaxity is a rare, genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and, in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time. https://github.com/monarch-initiative/mondo/issues/4069 CMDH congenital muscular dystrophy with hyperlaxity MONDO:0018282 https://github.com/monarch-initiative/mondo/issues/5114 alpha-dystroglycanopathy dystroglycanopathy qualitative or quantitative defects of alpha-dystroglycan MONDO:0018283 https://github.com/monarch-initiative/mondo/issues/5114 primary alpha-dystroglycanopathy primary dystroglycanopathy primary qualitative or quantitative defects of alpha-dystroglycan MONDO:0018292 https://github.com/monarch-initiative/mondo/issues/4069 CDG-related bone disorder congenital disorder of glycosylation-related bone disorder MONDO:0018298 A rare genetic chronic skeletal disorder characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations. mona spectrum multicentric osteolysis-nodulosis-arthropathy spectrum MONDO:0018301 A rare chronic debilitating urogenital disease characterized by urinary frequency, urgency, and pelvic pain. IC/BPS IC/PBS bladder pain syndrome chronic interstitial cystitis interstitial cystitis, chronic interstitial cystitis/bladder pain syndrome interstitial cystitis/painful bladder syndrome painful bladder syndrome ulcerative cystitis interstitial cystitis MONDO:0018302 Acquired progressive kinking of the hair (APKH) is a rare hair disorder characterized by the appearance of lustreless, curly, frizzy, and coarse hair generally during adolescence predominantly in the frontal, temporal, and vertex regions of the scalp. Eyelashes, as well as growth and pigmentation of the hair, may also be affected. acquired kinky hair syndrome MONDO:0018303 https://github.com/monarch-initiative/mondo/issues/5166 2022-10-01 Reason: duplicate. This OMIM ID seems to represent the whole series. This will be merged with MONDO:0000476 generalized dystonia generalized isolated dystonia MONDO:0018304 A rare, underdiagnosed disorder in adults characterized by recurrent febrile rash, bone and/or joint pain, enlarged lymph nodes, fatigue, a monoclonal IgM component, leukocytosis and systemic inflammatory response. chronic urticaria with gammopathy chronic urticaria with macroglobulinemia chronic urticaria with gammapathy Schnitzler syndrome https://rarediseases.info.nih.gov/diseases/12390/schnitzler-syndrome MONDO:0018305 Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas. Bridges-Good syndrome CGD Quie syndrome chronic septic granulomatosis congenital dysphagocytosis granulomatous disease, chronic chronic granulomatous disease https://rarediseases.info.nih.gov/diseases/6100/chronic-granulomatous-disease MONDO:0018306 Griscelli syndrome (GS) is characterised by silvery gray sheen of the hair and hypopigmentation of the skin which can be associated to neurological impairment (type 1), immunodeficiency (type 2) or be isolated (type 3). ChC)diak-Higashi-like syndrome Chédiak-Higashi-like syndrome Ch��diak-Higashi-like syndrome Griscelli-PruniC)ras syndrome Griscelli-Pruniéras syndrome Griscelli-Pruni��ras syndrome partial albinism-immunodeficiency syndrome Griscelli disease Griscelli syndrome https://rarediseases.info.nih.gov/diseases/10913/griscelli-syndrome MONDO:0018307 Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system. NBIA neurodegeneration with brain iron accumulation Editor note: check relationship to PKAN neurodegeneration with brain iron accumulation MONDO:0018308 A multicystic, tumor-like hamartomatous lesion that arises from the liver during fetal development. Clinically, it usually presents as an abdominal mass associated with abdominal distention. Following resection, the prognosis is usually good. MHL VMC Von Meyenburg complexes disease biliary hamartoma hepatic mesenchymal hamartoma liver MH liver mesenchymal hamartoma mesenchymal hamartoma of liver mesenchymal hamartoma of the liver hepatic cystic hamartoma Editor note: in NCIT this is classified as non-neoplastic liver mesenchymal hamartoma https://rarediseases.info.nih.gov/diseases/2651/hepatic-cystic-hamartoma MONDO:0018309 Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon. HSCR Hirschsprung disease Hirschsprung disease susceptibility Hirschsprung's disease aganglionic megacolon congenital intestinal aganglionosis congenital megacolon pelvirectal achalasia macrocolon Hirschsprung disease MONDO:0018310 Langerhans cell histiocytosis (LCH) is a systemic disease associated with the proliferation and accumulation (usually in granulomas) of Langerhans cells in various tissues. LCH Langerhan's cell histiocytosis Langerhans cell granulomatosis Langerhans cell histiocytosis Langerhans cell histiocytosis, NOS Langerhans cell histiocytosis, Not otherwise specified histiocytosis X letterer-Siwe disease involving intra-abdominal lymph nodes letterer-Siwe disease involving intrapelvic lymph nodes letterer-Siwe disease involving intrathoracic lymph nodes letterer-Siwe disease involving lymph nodes of axilla and upper limb letterer-Siwe disease involving lymph nodes of head, face and neck letterer-Siwe disease involving lymph nodes of head, face, and neck letterer-Siwe disease involving lymph nodes of inguinal region and lower limb letterer-Siwe disease involving lymph nodes of multiple sites letterer-Siwe disease involving spleen letterer-Siwe disease of intra-abdominal lymph nodes letterer-Siwe disease of intrapelvic lymph nodes letterer-Siwe disease of intrathoracic lymph nodes letterer-Siwe disease of lymph nodes of axilla and upper limb letterer-Siwe disease of lymph nodes of axilla and/or upper limb letterer-Siwe disease of lymph nodes of head, face and neck letterer-Siwe disease of lymph nodes of head, face and/or neck letterer-Siwe disease of lymph nodes of inguinal region amd/or lower limb letterer-Siwe disease of lymph nodes of inguinal region and lower limb letterer-Siwe disease of lymph nodes of inguinal region and/or lower limb letterer-Siwe disease of lymph nodes of multiple sites letterer-Siwe disease of spleen Langerhans-cell histiocytosis Lch We follow NCIT in classifying this as a neoplasm but this may be revisited Langerhans cell histiocytosis MONDO:0018311 Acromelanosis is a congenital hyperpigmentation of the skin usually located on the acral areas of the fingers and toes. It is mostly observed in newborns or during the first years of life. progressive acromelanosis acromelanosis https://rarediseases.info.nih.gov/diseases/4500/acromelanosis MONDO:0018312 A disease caused by the fungus Histoplasma capsulatum. It primarily affects the lungs but can also occur as a disseminated disease that affects additional organs. The acute respiratory disease has symptoms similar to those of a cold or flu and it usually resolves without treatment in healthy individuals. The disseminated form is generally fatal if untreated. Histoplasma caused disease or disorder Histoplasma disease or disorder Histoplasma infectious disease darling disease histoplasmosis MONDO:0018314 A rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities. infantile-onset mesial temporal lobe epilepsy with severe cognitive regression MONDO:0018315 X-linked osteoporosis with fractures MONDO:0018316 fatal post-viral neurodegenerative disorder MONDO:0018317 growth retardation-mild developmental delay-chronic hepatitis syndrome MONDO:0018318 disorder of asparagine metabolism MONDO:0018319 FEPS familial episodic pain syndrome https://rarediseases.info.nih.gov/diseases/12684/familial-episodic-pain-syndrome MONDO:0018320 https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/5723 primary microcephaly-mild intellectual disability-young-onset diabetes syndrome MONDO:0018321 Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms. atypical juvenile parkinsonism MONDO:0018322 HSD10 disease, infantile type is a clinical subtype of HSD10 disease, a rare neurometabolic disorder. It is characterized by normal early development until 6-18 months of life, followed by progressive neurodegeneration manifesting with developmental regression, progressive visual and hearing troubles, seizures, epilepsy, severe cardiomyopathy, lethargy, hypotonia, poor feeding, choreoathetosis, and movement disorders. Elevated blood levels of isoleucine metabolites and their excretion in urine are reported. The disease is usually fatal around 2-4 years of age. 2-methyl-3-hydroxybutyric aciduria, classic type 2-methyl-3-hydroxybutyric aciduria, infantile type 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type HSD10 deficiency, classic type HSD10 deficiency, infantile type HSD10 disease, classic type MHBD deficiency, classic type MHBD deficiency, infantile type HSD10 disease, infantile type MONDO:0018323 HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by onset of severe metabolic/lactic acidosis, neurological and psychomotor delay, seizures and severe progressive hypertrophic cardiomyopathy in the neonatal period. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life. 2-methyl-3-hydroxybutyric aciduria, neonatal type 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type HSD10 deficiency, neonatal type MHBD deficiency, neonatal type HSD10 disease, neonatal type MONDO:0018324 Acquired myasthenia gravis (MG) is an autoimmune disorder of the neuromuscular junction characterized by fatigable muscle weakness with frequent ocular signs and/or generalized muscle weakness, and occasionally associated with thymoma. adult-onset acquired myasthenia adult-onset autoimmune myasthenia gravis adult-onset myasthenia gravis MONDO:0018325 Juvenile myasthenia gravis (MG) is a rare form of MG, an autoimmune disorder of the neuromuscular junction resulting in ocular manifestations or generalized weakness, with onset before 18 years of age. childhood myasthenia gravis juvenile acquired myasthenia juvenile autoimmune myasthenia gravis myasthenia gravis of childhood pediatric myasthenia gravis juvenile myasthenia gravis MONDO:0018326 Transient neonatal myasthenia gravis (MG) is a rare form of MG occurring in neonates born to mothers who have the disorder or specific circulating autoantibodies. neonatal myasthenia gravis NMG transient neonatal acquired myasthenia transient neonatal autoimmune myasthenia gravis transient neonatal myasthenia gravis MONDO:0018327 A rare benign or malignant mesenchymal neoplasm arising from cells that resemble the modified smooth muscle cells of the glomus body. The majority of glomus tumors occur in the distal extremities. glomus neoplasm glomus tumor glomus tumour glomus tumor MONDO:0018328 https://github.com/monarch-initiative/mondo/issues/5537 HoFH homozygous familial hypercholesterolemia homozygous familial hypercholesterolemia MONDO:0018329 persistent combined dystonia MONDO:0018330 Mucinous adenocarcinoma of the appendix is a very rare, slow growing, well-differentiated epithelial neoplasm of the appendix characterized by abundant mucin production. Clinically, it presents as acute appendicitis (with abdominal pain, fever, leukocytosis) or as pseudomyxoma peritonei (wide-spread presence of mucin within the peritoneal cavity), however some patients may be completely asymptomatic at the time of diagnosis. In many cases, a second gastrointestinal malignancy is present. appendiceal mucinous adenocarcinoma appendix mucinous adenocarcinoma vermiform appendix mucinous adenocarcinoma mucinous adenocarcinoma of the appendix MONDO:0018332 MAD deficiency, severe neonatal type MADD, severe neonatal type glutaric aciduria type 2, severe neonatal type multiple acyl-CoA dehydrogenase deficiency, severe neonatal type MONDO:0018333 MAD deficiency, mild type MADD, mild type glutaric aciduria type 2, mild type multiple acyl-CoA dehydrogenase deficiency, mild type MONDO:0018334 Chronic hiccup is a rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours. Hiccups, intractable chronic hiccups intractable hiccups intractable singultus persistent hiccups chronic hiccup https://rarediseases.info.nih.gov/diseases/6657/chronic-hiccups MONDO:0018337 severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency MONDO:0018338 APDS senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation activated PI3K-delta syndrome MONDO:0018339 Prion protein (PrP) systemic amyloidosis, previously known as chronic diarrhea with hereditary sensory and autonomic neuropathy is an extremely rare autosomal dominant disorder reported in three British families, a Japanese and an Italian family (about 16 cases in total). Onset is usually in the fourth decade of life and the course lasts about 20 years. Reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. The disorder is caused by truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid. chronic diarrhea with HSAN chronic diarrhea with hereditary sensory and autonomic neuropathy prion protein systemic amyloidosis PrP systemic amyloidosis MONDO:0018340 hereditary isolated aplastic anemia MONDO:0018341 A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus. https://github.com/monarch-initiative/mondo/issues/3664 Del(3)(q27.3) 3q27.3 microdeletion syndrome MONDO:0018342 Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes. JBTS with JATD Joubert syndrome with JATD Joubert syndrome with Jeune asphyxiating thoracic dystrophy MONDO:0018343 periodic paralysis with later-onset distal motor neuropathy MONDO:0018344 periodic paralysis with transient compartment-like syndrome MONDO:0018346 https://github.com/monarch-initiative/mondo/issues/5349 FCCS cerebro-cutaneous syndrome with iron overload ferro-cerebro-cutaneous syndrome MONDO:0018347 IQSEC2-related syndromic intellectual disability severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018349 MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3). MAN1B1-CDG MAN1B1-congenital disorder of glycosylation carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency congenital disorder of glycosylation type 2 due to MAN1B1 deficiency congenital disorder of glycosylation type II due to MAN1B1 deficiency intellectual disability-truncal obesity syndrome MAN1B1-congenital disorder of glycosylation https://rarediseases.info.nih.gov/diseases/12417/man1b1-cdg MONDO:0018351 A adenocarcinoma that involves the penis. https://github.com/monarch-initiative/mondo/issues/5166 2022-10-01 penile adenocarcinoma penis adenocarcinoma adenocarcinoma of the penis Reason: duplicate. This OMIM ID seems to represent the whole series. This will be merged with MONDO_0000070 mycobacterium tuberculosis, susceptibility' adenocarcinoma of penis MONDO:0018352 A squamous cell carcinoma arising from the penis. It occurs chiefly in the squamous epithelium of the glans, coronal sulcus, and foreskin. Etiologic factors include phimosis, lichen sclerosus, smoking, ultraviolet irradiation, history of warts or condylomas, and lack of circumcision. Human papilloma virus is present in a subset of penile squamous cell carcinomas. Patients may present with an exophytic or flat ulcerative mass in the glans or a large primary tumor with inguinal nodal and skin metastases. Morphologic variants include the basaloid carcinoma, warty (condylomatous) carcinoma, verrucous carcinoma, and sarcomatoid (spindle cell) carcinoma. (WHO, 2004) epidermoid carcinoma of penis epidermoid carcinoma of the penis epidermoid cell carcinoma of penis epidermoid cell carcinoma of the penis penile epidermoid carcinoma penile epidermoid cell carcinoma penile squamous car.(epidermoid) penile squamous carcinoma (epidermoid) penile squamous cell cancer penile squamous cell carcinoma penis squamous cell carcinoma squamous cell carcinoma of penis squamous cell carcinoma of the penis PSCC squamous cell carcinoma of penis MONDO:0018353 Refractory celiac disease (RCD) is a complex autoimmune disorder much like the more common celiac disease but, unlike celiac disease, it is resistant or unresponsive to at least 12 months of treatment with a strict gluten-free diet. Gliadin, a component of the wheat storage protein gluten, together with similar proteins in barley and rye, are the villains that trigger the immune reaction in celiac disease. The diagnosis of RCD is made by exclusion, especially of any other disorder that can affect the huge number of thread-like projections that line the interior of the intestine (intestinal villi), such as intestinal lymphoma, Crohn's disease, small intestinal bacterial overgrowth or hypogammaglobulinemia. intractable celiac sprue refractory CD refractory sprue type I refractory sprue type II refractory sprue refractory celiac disease MONDO:0018354 Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) ocurring in the absence of 15q11-q13 genomic abnormalities. PWS-like Prader-Willi-like syndrome MONDO:0018355 SIM1-related PWLS PWS-like due to a point mutation PWS-like due to point mutation Prader-Willi-like syndrome due to a point mutation SIM1-related Prader-Willi-like syndrome MONDO:0018356 Transplacentally acquired neonatal autoimmune disease secondary neonatal autoimmune disease MONDO:0018357 neonatal Hughes syndrome neonatal antiphospholipid antibody syndrome neonatal antiphospholipid syndrome MONDO:0018358 neonatal AHA neonatal AIHA neonatal autoimmune hemolytic anemia MONDO:0018359 neonatal DM neonatal dermatomyositis MONDO:0018360 A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis. congenital lupus congenital lupus erythematosus neonatal SLE neonatal lupus neonatal lupus syndrome neonatal systemic lupus erythematosus neonatal lupus erythematosus MONDO:0018361 neonatal scleroderma MONDO:0018362 AFP PIFP atypical facial pain Editor note: TODO add HPO class persistent idiopathic facial pain MONDO:0018363 Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies. FFDD focal facial dermal dysplasia MONDO:0018364 An invasive malignant tumor that originates from the surface epithelium of the ovary. It is composed of malignant epithelial cells and stroma. Representative examples include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, clear cell adenocarcinoma, and malignant Brenner tumor. epithelial cancer of ovary malignant ovarian epithelial tumor malignant ovarian surface epithelial-stromal neoplasm malignant ovarian surface epithelial-stromal tumor ovarian epithelial cancer ovarian epithelial tumor, malignant ovarian malignant epithelial tumor ovarian stromal cancer Editor note: check inference with carcinoma malignant epithelial tumor of ovary MONDO:0018365 non-epithelial cancer of ovary ovarian malignant non-epithelial tumor ovarian non-epithelial cancer Editor note: consider axiomatizing. This includes sex-cord and germ cell. Note some GCTs have names suggesting epithelial original such as embryonal/choriocarcinoma malignant non-epithelial tumor of ovary MONDO:0018368 PPSPC peritoneal serous papillary adenocarcinoma primary peritoneal serous papillary adenocarcinoma primary peritoneal serous papillary carcinoma primary serous papillary carcinoma of peritoneum primary peritoneal serous/papillary carcinoma MONDO:0018369 A malignant germ cell tumor arising from the ovary. It usually affects females in their first two decades of life. It contains variable amounts of immature embryonal tissues. Based on the amount of immature neuroepithelial component, immature teratomas are graded from 1 to 3. The stage and grade of the tumor and the grade of the metastatic tumor are the important factors that predict prognosis. The use of cisplatin-based combination chemotherapy has significantly improved the survival rates of the patients. immature germ cell teratoma of ovary immature germ cell teratoma of the ovary immature ovarian teratoma immature teratoma of ovary immature teratoma of the ovary malignant germ cell teratoma of ovary malignant germ cell teratoma of the ovary malignant ovarian germ cell teratoma malignant ovarian teratoma malignant teratoma of ovary malignant teratoma of the ovary ovarian germ cell immature teratoma ovarian immature germ cell teratoma ovarian immature teratoma ovarian malignant teratoma ovary malignant teratoma immature teratoma immature ovarian teratoma MONDO:0018370 KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life. KLHL9-related early-onset distal myopathy MONDO:0018371 distal nebulin myopathy nebulin-related early-onset distal myopathy MONDO:0018373 Necrotic changes in the bone tissue due to interruption of blood supply. Most often affecting the epiphysis of the long bones, the necrotic changes result in the collapse and the destruction of the bone structure. AVN avascular necrosis of bone avascular necrosis MONDO:0018374 secondary AVN secondary avascular necrosis MONDO:0018375 traumatic AVN traumatic avascular necrosis MONDO:0018376 secondary non-traumatic AVN secondary non-traumatic avascular necrosis MONDO:0018378 An area of necrotic bone in the mandible or maxilla. ONJ jaw osteonecrosis osteonecrosis of jaw osteonecrosis of the jaw MONDO:0018379 primary AVN primary avascular necrosis MONDO:0018380 idiopathic AVN idiopathic avascular necrosis MONDO:0018381 A condition that is characterized by defective bone growth that affects the growth centers of bone. apophysitis epiphyseal necrosis epiphysitis osteochondritis osteochondritis juvenilis osteochondrosis not specified as adult or juvenile, of unspecified site osteochondrosis https://rarediseases.info.nih.gov/diseases/12704/osteochondrosis MONDO:0018382 Epiphysiolysis of the hip is a rare osteonecrosis disorder characterized by unilateral or bilateral disruption of the capital femoral physis with varying degrees of posterior epiphysis translation and simultaneous anterior metaphysis displacement. Patients typically present in pre-adolescence/adolescence with pain of variable intensity in varying locations (hip, groin, thigh, knee). SCFE SufE epiphysiolysis of the upper femur femoral head epiphysiolysis slipped capital femoral epiphysis slipped upper femoral epiphysis epiphysiolysis of the hip MONDO:0018383 An instance of osteonecrosis that is caused by a modification of the individual's genome. bone necrosis of genetic origin genetic osteonecrosis osteonecrosis of genetic origin MONDO:0018384 An instance of avascular necrosis that is caused by a modification of the individual's genome. genetic avascular necrosis avascular necrosis of genetic origin MONDO:0018385 An instance of osteochondrosis that is caused by a modification of the individual's genome. genetic osteochondrosis osteochondrosis of genetic origin MONDO:0018393 Male infertility with azoospermia or oligospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal. male infertility with azoospermia or oligozoospermia due to single gene mutation MONDO:0018394 Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail. male infertility with teratozoospermia due to single gene mutation MONDO:0018408 Echinococcus granulosus infection Echinococcus granulosus infection of lung Echinococcus granulosus infection of thyroid Echinococcus granulosus infectious disease of liver Hydatidosis echinococcus granulosus echinococcus granulosus infectious disease of liver echinococcus granulosus infectious disease of thyroid hydatid disease liver echinococcus granulosus lung echinococcus granulosus thyroid echinococcus granulosus unilocular echinococcosis unilocular hydatid disease cystic echinococcosis MONDO:0018416 SPG59 autosomal recessive spastic paraplegia type 59 MONDO:0018417 SPG60 autosomal recessive spastic paraplegia type 60 MONDO:0018418 SPG66 autosomal recessive spastic paraplegia type 66 MONDO:0018419 Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities. SPG67 autosomal recessive spastic paraplegia type 67 MONDO:0018420 SPG68 autosomal recessive spastic paraplegia type 68 MONDO:0018421 SPG69 autosomal recessive spastic paraplegia type 69 MONDO:0018422 Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities. SPG70 autosomal recessive spastic paraplegia type 70 MONDO:0018423 SPG71 autosomal recessive spastic paraplegia type 71 MONDO:0018424 An inherited metabolic disease that is has its basis in the disruption of lipoate biosynthetic process. inborn error of lipoate biosynthetic process inborn lipoate biosynthetic process disorder lipoate biosynthesis defect rare inborn error of lipoate biosynthetic process lipoic acid biosynthesis defect lipoic acid biosynthesis defects inherited lipoic acid biosynthesis defect MONDO:0018425 C9ORF72-related Huntington disease phenocopy C9ORF72-related Huntington disease-like syndrome Huntington disease phenocopy due to C9ORF72 expansions Huntington disease-like syndrome due to C9ORF72 expansions MONDO:0018426 AXIN2-related AFAP AXIN2-related attenuated FAP AXIN2-related attenuated familial polyposis coli AXIN2-related attenuated familial adenomatous polyposis MONDO:0018428 https://github.com/monarch-initiative/mondo/issues/3664 Del(9)(q31.1q31.3) monosomy 9q31.1q31.3 9q31.1q31.3 microdeletion syndrome MONDO:0018429 https://github.com/monarch-initiative/mondo/issues/3664 Del(14)(q24.1q24.3) monosomy 14q24.1q24.3 14q24.1q24.3 microdeletion syndrome MONDO:0018430 A rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts. partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome MONDO:0018431 Editor note: in ORDO this is classified as AR, but this leads to inconsistencies due to AD forms cold-induced sweating syndrome - hyperthermia spectrum MONDO:0018432 lichen myxoedematosus lichenoid myxedema papular mucinosis lichen myxedematosus MONDO:0018433 Acute myeloid leukemia with t(6;9)(p23;q34) is a rare subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported. AML with t(6;9)(p23;q34) acute myeloid leukemia with t(6;9)(p23;q34) MONDO:0018434 AML with t(9;11)(p22;q23) acute myeloid leukemia with t(9;11)(p22;q23) MONDO:0018435 Acute myeloid leukemia with inv(3)(q21;q26.2) or t(3;3)(q21;q26.2) is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dyslplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported. AML with inv3(p21;q26.2) or t(3;3)(p21;q26.2) AML with inv3(q21;q26.2) or t(3;3)(q21;q26.2) acute myeloid leukemia with inv3(q21;q26.2) or t(3;3)(q21;q26.2) acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2) https://rarediseases.info.nih.gov/diseases/12759/acute-myeloid-leukemia-with-inv3p21q262-or-t33p21q262 MONDO:0018436 Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) is a rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities characterized by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anemia, thrombocytopenia and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease. megakaryoblastic AML with t(1;22)(p13;q13) megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) MONDO:0018437 Acute myeloid leukemia with NPM1 somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages. Patients usually present with leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy. AML with NPM1 somatic mutations acute myeloid leukemia with NPM1 somatic mutations MONDO:0018438 EGID primary eosinophilic gastrointestinal disease eosinophilic gastrointestinal disease MONDO:0018439 Inflammation of the colon that is characterized by eosinic infiltration. eosinophilic colitis MONDO:0018440 Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed. AR dRTA autosomal recessive distal RTA autosomal recessive distal renal tubular acidosis (disease) distal renal tubular acidosis (disease), autosomal recessive autosomal recessive distal renal tubular acidosis MONDO:0018442 Acitretin/Etretinate embryopathy is a teratogenic disorder due to acitretin or etretinate exposure during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies. fetal acitretin/etretinate syndrome retinoid embryopathy Acitretine embryofetopathy acitretin embryofetopathy acitretin embryopathy fetal acitretin syndrome acitretin/etretinate embryopathy https://rarediseases.info.nih.gov/diseases/468/acitretin-embryopathy MONDO:0018443 https://github.com/monarch-initiative/mondo/issues/5588 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome MONDO:0018445 https://github.com/monarch-initiative/mondo/issues/4224 https://github.com/monarch-initiative/mondo/issues/4521 GLOW GLOW syndrome, somatic mosaic global developmental delay, lung cysts, overgrowth, and wilms tumor glow syndrome global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome MONDO:0018446 https://github.com/monarch-initiative/mondo/issues/5588 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome MONDO:0018447 An uncommon benign cartilaginous neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain. Chondromyxoid fibroma chondromyxoid fibroma MONDO:0018448 Clear cell papillary renal cell carcinoma is a rare, indolent subtype of clear cell renal carcinoma, arising from epithelial cells in the renal cortex. It most frequently manifests with a well-circumscribed, well-encapsulated, unicentric, unilateral, small tumor that typically does not metastasize. Clinically it can present with flank or abdominal pain or hematuria, although most patients are usually asymptomatic at the time of diagnosis. Bilateral and/or multifocal presentation should raise the suspicion of von Hippel-Lindau syndrome. clear cell papillary renal cell carcinoma MONDO:0018449 Acquired cystic disease-associated renal cell carcinoma is a rare subtype of renal cell carcinoma, ocurring in the context of end-stage kidney disease and acquired cystic kidney disease, characterized by a usually well circumscribed, solid, multifocal, bilateral tumor with inter- or intracellular microlumen formation (leading to cribiform architecture). Tumors are often diagnosed incidentally in early stages, although complications caused by renal cysts (dull flank or abdominal pain, fever) or renal parenchymal bleeding may mask the underlying neoplastic process. Most have an indolent behavior. acquired cystic disease-associated renal cell carcinoma MONDO:0018450 Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene. SMARD2 X-linked spinal muscular atrophy with respiratory distress diaphragmatic spinal muscular atrophy type 2 severe infantile axonal neuropathy with respiratory failure type 2 spinal muscular atrophy with respiratory distress type 2 MONDO:0018451 X-linked form of distal hereditary motor neuropathy. X-linked dHMN X-linked distal spinal muscular atrophy distal hereditary motor neuropathy, X-linked X-linked distal hereditary motor neuropathy MONDO:0018453 melanoma-pancreatic cancer syndrome B-K mole syndrome FAMM syndrome FAMM-PC syndrome FAMMM syndrome familial Clark nevus syndrome familial atypical mole melanoma syndrome familial atypical mole syndrome familial atypical multiple mole melanoma-pancreatic carcinoma syndrome familial dysplastic nevus syndrome familial atypical multiple mole melanoma syndrome MONDO:0018454 An instance of dysostosis that is caused by a modification of the individual's genome. genetic dysostosis dysostosis of genetic origin MONDO:0018456 juvenile polyarthritis juvenile polyarticular arthritis polyarticular JIA polyarticular juvenile idiopathic arthritis MONDO:0018458 Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration. familial benign hypercalcemia familial benign hypocalciuric hypercalcemia FBH FBHH FHH hypocalciuric hypercalcemia familial hypocalciuric hypercalcemia MONDO:0018459 Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD ). https://github.com/monarch-initiative/mondo-build/issues/49 hyperglycerolemia isolated inborn glycerol kinase deficiency nonsyndromic glycerol kinase deficiency nonsyndromic inborn glycerol kinase deficiency isolated glycerol kinase deficiency MONDO:0018460 Eales disease (ED) is an idiopathic, inflammatory retinal venous occlusive disease characterized by 3 stages: vasculitis, occlusion and retinal neovascularization, leading to recurrent vitreous hemorrhages and vision loss. idiopathic retinal perivasculitis idiopathic retinal vasculitis idiopathic obliterative vasculopathy idiopathic recurrent vitreal hemorrhage Eales disease https://rarediseases.info.nih.gov/diseases/6309/eales-disease MONDO:0018461 Angelman syndrome due to a point mutation MONDO:0018462 Angelman syndrome due to imprinting defect in 15q11-q13 MONDO:0018463 Mild phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the mild and late-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, leading to urolithiasis and gout. This form is not associated with any neuropathy or central nervous system (CNS) disorders. mild PRPP synthetase superactivity mild PRPS1 superactivity mild phosphoribosylpyrophosphate synthetase superactivity MONDO:0018464 Severe phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the severe and early-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, that is characterized by urolithiasis, gout and neurodevelopmental anomalies. severe PRPP synthetase superactivity severe PRPS1 superactivity severe phosphoribosylpyrophosphate synthetase superactivity MONDO:0018465 Insulin autoimmune syndrome is a rare condition that causes low blood sugar (hypoglycemia). This occurs because the body begins to make a specific kind of protein called antibodies to attack insulin. Insulin is a naturally occurring hormone that is responsible for keeping blood sugar at a normal level. When blood sugar levels get too high, insulin helps to store the sugar for future use. People affected by insulin autoimmune syndrome have antibodies that attack insulin, causing it to work too hard and the level of blood sugar to become too low. Insulin autoimmune syndrome most often begins during adulthood. Hirata disease insulin autoimmune hypoglycemia insulin autoimmune syndrome https://rarediseases.info.nih.gov/diseases/10808/insulin-autoimmune-syndrome MONDO:0018467 Nephropathic infantile cystinosis is the most common and severe form of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes. https://github.com/monarch-initiative/mondo/issues/4985 cystinosis, infantile nephropathic nephropathic infantile cystinosis CTNS cystinosin, defect of cystinosis, atypical nephropathic lysosomal cystine transport protein, defect of nephropathic infantile cystinosis MONDO:0018468 Proton-pump inhibitor-responsive esophageal eosinophilia (PPI-REE) is a rare, gastroenterologic disease characterized by typical clinical, endoscopic and histological features of eosinophilic oesophagitis (i.e. symptomatic oesophageal dysfunction associated with eosinophil-predominant mucose infiltrate) which completely remits upon proton pump inhibitor therapy. PPI-REE PPI-responsive esophageal eosinophilia PPIRee proton-pump inhibitor-responsive esophageal eosinophilia MONDO:0018469 non-tuberculous mycobacterial lung disease nontuberculous mycobacterial lung disease pulmonary non-tuberculous mycobacterial infection MONDO:0018470 Renal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively), accompanied by absent ureter(s). renal agenesis (disease) absent/small kidney absent/underdeveloped kidney hereditary renal aplasia hereditary urogenital adysplasia renal adysplasia renal agenesis renal agenesis (disease) renal agenesis/hypoplasia renal aplasia renal hypodysplasia/aplasia renal agenesis MONDO:0018471 Generalized eruptive keratoacanthoma (GEKA) is rare variant of keratoacanthoma (KA) that affects the skin and mucous membranes and which is characterized by a sudden generalized eruption of severely pruritic, hundreds to thousands of small follicular papules, often with a central keratotic plug. GEKA Grzybowski syndrome generalized eruptive keratoacanthomas of Grzybowski generalized eruptive keratoacanthoma MONDO:0018472 Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated. familial isolated trichomegaly MONDO:0018473 Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease. Broad-betalipoproteinemia HLP type 3 carbohydrate induced hyperlipemia dyslipidemia type 3 familial dysbetalipoproteinemia familial hyperlipoproteinemia type 3 familial type 3 hyperlipoproteinemia hyperlipidemia type 3 hyperlipoproteinemia type III remnant disease remnant hyperlipidemia Broad beta disease apolipoprotein E, deficiency or defect of coronary artery disease, Severe, Susceptibility to dysbetalipoproteinemia dysbetalipoproteinemia due to defect in apolipoprotein E-D familial Hyperbeta- and Prebetalipoproteinemia familial hypercholesterolaemia with hyperlipaemia familial hypercholesterolemia with hyperlipemia floating-betalipoproteinemia hyperlipemia with Familial Hypercholesterolemic xanthomatosis hyperlipoproteinemia, type III low density lipoprotein cholesterol level quantitative trait locus 5 remnant removal disease hyperlipoproteinemia type 3 MONDO:0018474 13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain. https://github.com/monarch-initiative/mondo/issues/3664 Del(13)(q12.3) monosomy 13q12.3 13q12.3 microdeletion syndrome MONDO:0018475 PRKAR1B-related neurodegenerative dementia with intermediate filaments MONDO:0018476 dystonia-aphonia syndrome MONDO:0018477 https://github.com/monarch-initiative/mondo/issues/3604 bilirubin encephalopathy kernicterus hyperbilirubinemic encephalopathy kernicterus spectrum disorder bilirubin encephalopathy MONDO:0018479 Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease. adrenogenital disorder adrenogenital syndrome CAH adrenal hyperplasia adrenal hyperplasia, congenital congenital adrenal gland hyperplasia congenital lipoid adrenal hyperplasia lipoid CAH congenital adrenal hyperplasia MONDO:0018480 esophageal carcinoma, salivary gland type carcinoma of esophagus, salivary gland type MONDO:0018481 An esophageal carcinoma characterized by the absence of microscopic features of squamous differentiation. However, there is immunohistochemical evidence of squamous differentiation. esophageal undifferentiated carcinoma esophagus undifferentiated carcinoma undifferentiated esophageal cancer undifferentiated esophageal carcinoma undifferentiated carcinoma of esophagus MONDO:0018483 A form of pulmonary alveolar proteinosis that arises in association with hematological disorders, medications, certain infections, acute silicosis, and immunodeficiency. SPAP secondary PAP Editor note: TODO DP for secondary diseases secondary pulmonary alveolar proteinosis MONDO:0018484 Semicircular canal dehiscence (SCD) syndrome is a rare otorhinolaryngologic disease characterized by the uni- or bilateral dehiscence of the bone(s) overlying the superior (most common), lateral or posterior semicircular canal(s). Patients present audiological (autophony, aural fullness, conductive hearing loss, pulsatile tinnitus) and/or vestibular symptoms (sound or pressure-evoked oscillopsia or vertigo, characteristic vertical-torsional eye movements), depending on which semicircular canal is affected. Posterior SCD syndrome is associated with high-riding jugular bulb and fibrous dysplasia, while lateral SCD syndrome is associated with chronic otitis media and cholesteatoma, with or without audiological and vestibular symptoms. Minor's syndrome Minorbs syndrome SCD syndrome canal dehiscence syndrome superior canal dehiscence superior canal syndrome superior semicircular canal dehiscence syndrome third mobile window syndrome superior semicircular canal dehiscence semicircular canal dehiscence syndrome MONDO:0018485 Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes. Alpha-1,4-glucosidase acid deficiency, late onset Alpha-1,4-glucosidase acid deficiency, late-onset GSD due to acid maltase deficiency, late onset GSD due to acid maltase deficiency, late-onset GSD type 2, late onset GSD type 2, late-onset GSD type II, late onset GSD type II, late-onset Pompe disease, late onset Pompe disease, late-onset glycogen storage disease type 2, late onset glycogen storage disease type 2, late-onset glycogen storage disease type II, late onset glycogen storage disease type II, late-onset glycogenosis type 2, late onset glycogenosis type 2, late-onset glycogenosis type II, late onset glycogenosis type II, late-onset glycogen storage disease due to acid maltase deficiency, late-onset MONDO:0018486 Visual snow syndrome is described as a persistent visual problem characterized by seeing snow-like dots. Migraines are a common symptom. Many people also see drifting blobs of varying size and shape (floaters), visual effects (entopic phenomenon), glare, halos, starbursts, trails, odd colors and shapes, and may have persistent recurrence of a visual image (palinopsia) and double vision. Additional symptoms may include fatigue, tinnitus, or depersonalization and depression. Most people have normal vision tests and normal brain images. Standard migraine treatments are often not helpful. There is no cure or effective treatment to completely relieve the symptoms, but medication seems to help some people with visual snow. visual snow visual snow syndrome https://rarediseases.info.nih.gov/diseases/12062/visual-snow-syndrome MONDO:0018487 autosomal recessive severe congenital neutropenia due to CXCR2 deficiency MONDO:0018489 Autoimmune encephalopathy with parasomnia and obstructive sleep apnea is a rare neurologic disorder characterized by a unique non-REM and REM parasomnia with sleep breathing dysfunction, gait instability and repetitive episodes of respiratory insufficiency, as well as autoantibodies against IgLON5. Patients may present stridor, chorea, limb ataxia, abnormal ocular movements, and bulbar symptoms (i.e. dysphagia, dysarthria, episodic central hypoventilation) with normal brain MRI. Excessive day sleepiness and cognitive deterioration have also been reported. anti-IgLON5 disease anti-IgLON5 syndrome autoimmune encephalopathy with parasomnia and obstructive sleep apnea MONDO:0018490 Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (incl. long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies. https://github.com/monarch-initiative/mondo/issues/5588 short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome cono-spondylar dysplasia MONDO:0018491 3-phosphoglycerate dehydrogenase deficiency MONDO:0018492 A manifestation of von Hippel-Lindau disease or other familial renal cell cancer syndromes that present as a malignant epithelial neoplasm of the kidney. It is characterized by the presence of lipid-containing clear cells within a vascular network. The tumor usually is bilateral and polycentric, and metastasizes to unusual sites. Late metastasis is common. Hereditary clear cell renal cell cancer hereditary clear cell renal carcinoma hereditary clear cell renal cell adenocarcinoma hereditary clear cell renal cell carcinoma hereditary conventional (clear cell) renal cell carcinoma hereditary conventional renal cell carcinoma hereditary clear cell renal cell carcinoma MONDO:0018493 A pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat. anesthesia related hyperthermia hyperthermia of anesthesia malignant hyperpyrexia malignant hyperpyrexia due to anesthesia malignant hyperthermia malignant hyperthermia of anesthesia malignant hyperthermia syndrome malignant hyperthermia of anesthesia MONDO:0018494 Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism. microcephaly-short stature-intellectual disability-facial dysmorphism syndrome MONDO:0018495 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome is a rare genetic neurometabolic disease characterized by severe intellectual disability, spastic quadraparesis, Leber´s congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter), described on magnetic resonance imaging, have been reported. High prenatal α-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination. X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome MONDO:0018496 ARX-related encephalopathy-brain malformation spectrum MONDO:0018498 DORV with subaortic or doubly committed VSD double outlet right ventricle with subaortic or doubly committed ventricular septal defect MONDO:0018499 DORV with atrioventricular septal defect, pulmonary stenosis, heterotaxy double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy MONDO:0018500 Cutaneous larva migrans is a rare parasitic disease characterized by single or multiple, linear or serpinginous, erythematous, slightly elevated cutaneous tracks caused by the larval migration of various nematode species. Tracks are variable in length, generally a few millimeters wide and are frequently located on the feet (although any area of the body is possible). Patients typically present with severe, intractable pruritus, which, in some cases, may cause impaired concentration, loss of sleep, and mood disturbances. CLM creeping eruption dew itch ground itch cutaneous larva migrans https://rarediseases.info.nih.gov/diseases/1629/cutaneous-larva-migrans MONDO:0018502 Hereditary gastric cancer refers to the occurrence of gastric cancer in a familial context and is described as two or more cases of gastric cancer in first or second degree relatives with at least one case diagnosed before the age of 50. Familial clustering is observed in 10% of all cases of gastric cancer, and includes hereditary diffuse gastric cancer (early onset diffuse-type gastric cancer), gastric adenocarcinoma and proximal polyposis of the stomach and familial intestinal gastric cancer (familial clustering of intestinal type gastric adenocarcinoma). Hereditary gastric cancer can also occur in other hereditary cancer syndromes such as Lynch syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis and juvenile polyposis syndrome. hereditary cancer of stomach hereditary gastric cancer hereditary gastric cancer MONDO:0018503 gastric carcinoma, salivary gland type carcinoma of stomach, salivary gland type MONDO:0018504 A carcinoma that arises from the stomach and is characterized by the absence of microscopic features of glandular or squamous differentiation. Gastric undifferentiated carcinoma anaplastic carcinoma of stomach anaplastic carcinoma of the stomach anaplastic gastric carcinoma stomach undifferentiated carcinoma undifferentiated carcinoma of stomach undifferentiated carcinoma of the stomach undifferentiated gastric (stomach) cancer undifferentiated gastric carcinoma undifferentiated stomach adenocarcinoma undifferentiated carcinoma of stomach MONDO:0018506 mesenchymal tumor of small bowel mesenchymal tumor of small intestine MONDO:0018507 Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis. microcephaly-complex motor and sensory axonal neuropathy syndrome MONDO:0018509 A carcinoma that arises from the small intestine. It is composed of malignant squamous cells. small intestinal squamous cell cancer small intestinal squamous cell carcinoma small intestine squamous cell carcinoma squamous cell carcinoma of the small bowel squamous cell carcinoma of the small intestine MONDO:0018510 A neoplasm with neuroendocrine differentiation that arises from the small intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). NET of the small intestine neuroendocrine neoplasm of small intestine neuroendocrine neoplasm of the small intestine neuroendocrine tumor of small bowel small intestinal neuroendocrine neoplasm small intestine NET small intestine neuroendocrine neoplasm small intestine neuroendocrine tumor neuroendocrine tumor of the small intestine small intestine neuroendocrine tumor, well differentiated, low or intermediate grade small intestine neuroendocrine neoplasm MONDO:0018511 A epithelial neoplasm that involves the vermiform appendix. appendiceal epithelial tumor vermiform appendix epithelial neoplasm epithelial tumor of the appendix MONDO:0018513 A squamous cell carcinoma that involves the colon. colon epidermoid carcinoma colon squamous cell cancer colon squamous cell carcinoma colonic epidermoid carcinoma colonic squamous cell carcinoma epidermoid carcinoma of colon epidermoid carcinoma of the colon squamous cell carcinoma of colon squamous cell carcinoma of the colon squamous cell colon carcinoma squamous cell carcinoma of colon MONDO:0018515 A very rare rectal carcinoma characterized by the presence of a malignant squamous cell infiltrate. rectal squamous carcinoma rectal squamous cell cancer rectal squamous cell carcinoma rectum squamous cell carcinoma squamous carcinoma of rectum squamous carcinoma of the rectum squamous cell carcinoma of rectum squamous cell carcinoma of the rectum squamous cell carcinoma of rectum MONDO:0018516 A epithelial neoplasm that involves the anal canal. anal canal epithelial neoplasm epithelial tumor of anal canal MONDO:0018521 A squamous cell carcinoma that involves the pancreas. pancreas squamous cell carcinoma pancreatic squamous cell carcinoma squamous cell carcinoma of the pancreas squamous cell carcinoma of pancreas MONDO:0018523 A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of columnar, mucin-producing epithelial cells. It occurs almost exclusively in women. Large tumors are often accompanied by a palpable abdominal mass. mucinous cystadenoma of pancreas pancreas mucinous cystadenoma pancreatic mucinous cystadenoma colloid cystadenoma of pancreas colloid cystadenoma of the pancreas colloidal cystadenoma of pancreas colloidal cystadenoma of the pancreas mucinous cystadenocarcinoma of the pancreas mucinous cystadenoma of the pancreas pancreatic colloid cystadenoma pancreatic colloidal cystadenoma pancreatic mucinous cystadenocarcinoma pancreatic mucinous cystic neoplasm pancreatic mucinous cystadenoma MONDO:0018525 A malignant neoplasm arising from the exocrine pancreas. It occurs predominantly in young women. It is characterized by the presence of extensive necrosis and hemorrhage and is composed of polyhedral cells forming solid and pseudopapillary patterns. There is morphologic evidence of perineural invasion, vascular invasion, or extensive invasion into the surrounding tissues. solid pseudopapillary neoplasm of the pancreas pancreatic solid pseudopapillary carcinoma solid pseudopapillary carcinoma of pancreas solid pseudopapillary carcinoma of the pancreas solid pseudopapillary carcinoma of pancreas MONDO:0018527 https://github.com/monarch-initiative/mondo/issues/5166 2022-10-01 OGCT of pancreas pancreatic osteoclastic giant cell tumor pancreatic undifferentiated carcinoma with osteoclast-like giant cells undifferentiated carcinoma of pancreas with osteoclast-like giant cells Reason: duplicate. This OMIM ID seems to represent the whole series. This will be merged with MONDO_0000070 mycobacterium tuberculosis, susceptibility' osteoclastic giant cell tumor of pancreas MONDO:0018528 Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features. congenital myopathy with myasthenic-like onset congenital myopathy with myasthenic-like onset MONDO:0018529 qualitative or quantitative defects of Torsin-1A-interacting protein type 1 qualitative or quantitative defects of Torsin-1A-interacting protein 1 MONDO:0018531 A carcinoma that arises from the hepatocytes or intrahepatic bile ducts. The main subtypes are hepatocellular carcinoma (hepatoma) and cholangiocarcinoma. cancer of liver cancer of liver and intrahepatic biliary tract cancer of the liver cancer of the liver and intrahepatic biliary tract carcinoma of liver hepatic cancer liver and intrahepatic bile duct cancer liver cancer liver/hepatobiliary cancer carcinoma of liver and IBT liver and intrahepatic bile duct carcinoma liver and intrahepatic biliary tract cancer liver and intrahepatic biliary tract carcinoma liver carcinoma primary liver carcinoma hepatocellular carcinoma plus intrahepatic cholangiocarcinoma Editor note: In uberon intrahepatic bile ducts are part of the liver, so we equate this with carcinoma of liver; we use hepatocellular for the liver proper carcinoma of liver and intrahepatic biliary tract MONDO:0018532 adenocarcinoma of liver and IBT adenocarcinoma of the liver and IBT adenocarcinoma of the liver and intrahepatic biliary tract adenocarcinoma of liver and intrahepatic biliary tract MONDO:0018533 Undifferentiated carcinoma of liver and intrahepatic biliary tract is an extremely rare epithelial tumor of the liver and biliary tract which presents heterogenous histological findings and not yet fully defined clinicopathological characterisitcs. Patients usually present with nonspecific signs and symptoms, such as abdominal pain, nausea, vomiting, anorexia, weight loss and/or jaundice. Invasive growth, hight metastatic potential and a rapid clinical course are typically associated. undifferentiated carcinoma of liver and IBT undifferentiated carcinoma of liver and intrahepatic biliary tract MONDO:0018534 Squamous cell carcinoma of liver and intrahepatic biliary tract is an extremely rare, primary, malignant liver and biliray tract epithelial tumor originating in the intrahepatic bile duct epithelium histologically characterized by the presence of keratinization and/or intracellular bridges. Patients typically present abdominal pain in the right upper quadrant, jaundice, nausea, vomiting, anorexia, weight loss, fever and/or dyspepsia. squamous cell carcinoma of liver and IBT squamous cell carcinoma of liver and intrahepatic biliary tract MONDO:0018535 A cystadenocarcinoma that involves the biliary tree. intrahepatic bile duct cystadenocarcinoma biliary cystadenocarcinoma MONDO:0018536 Adenocarcinoma of the gallbladder and extrahepatic biliary tract is a rare epithelial carcinoma, arising either in the gallbladder itself or from the epithelium lining the extrahepatic biliary tree, cystic duct and/or peribiliary gland, characterized by nonspecific symptoms, such as abdominal pain, jaundice and vomiting and sometimes mimicking benign biliary diseases. Chronic biliary epithelial inflammation (e.g. primary sclerosing cholangitis, cholelithiasis, choledocholithiasis, liver fluke infestation) is a major risk factor. adenocarcinoma of gallbladder and EBT adenocarcinoma of the gallbladder and EBT adenocarcinoma of the gallbladder and extrahepatic biliary tract adenocarcinoma of gallbladder and extrahepatic biliary tract MONDO:0018537 Squamous cell carcinoma of the gallbladder and extrahepatic biliary tract is a rare hepatic and biliary tract tumor, arising either in the gallbladder itself or in the epithelium lining the extrahepatic biliary tree, the cystic duct and peribiliary glands. It is characterized by a substantial keratinization with abundant keratohyalin pearls and central deposition of dense keratin material within infiltrative nests and locally aggressive nature. In the early stages of the disease symptoms are vague and nonspecific (abdominal pain, jaundice and vomiting). In the advanced stages it may present with a bulky tumor and symptoms of adjacent organ involvement. squamous cell carcinoma of gallblader and EBT squamous cell carcinoma of gallbladder and extrahepatic biliary tract MONDO:0018538 inherited digestive cancer-predisposing syndrome MONDO:0018540 An auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis. Marshall syndrome with periodic fever PFAPA periodic fever, aphthous stomatitis, pharyngitis and adenitis periodic fever, aphthous stomatitis, pharyngitis, adenitis syndrome periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome Marshall syndrome PFAPA syndrome MONDO:0018541 Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone). familial hypoaldosteronism MONDO:0018542 https://github.com/monarch-initiative/mondo/issues/4069 SCN neutropenia, severe congenital severe congenital neutropenia MONDO:0018543 Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria. hypocalcemia AD hypocalcemia hypocalcemia, autosomal dominant autosomal dominant hypocalcemia https://rarediseases.info.nih.gov/diseases/2877/hypocalcemia-autosomal-dominant MONDO:0018544 A peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency. https://github.com/monarch-initiative/mondo/issues/2632 https://github.com/monarch-initiative/mondo/issues/4521 ABCD1 deficiency ALD Bronze-Schilder disease Siemerling-Creutzfeldt disease X-ALD X-linked ALD X-linked adrenoleukodystrophy adrenoleukodystrophy adrenoleukodystrophy, X-linked adrenoleukodystrophy, X-linked recessive adrenomyeloneuropathy, adult adrenomyeloneuropathy, adult, X-linked recessive diffuse cerebral sclerosis of Schilder encephalitis periaxialis concentrica encephalitis periaxialis, Schilder's sudanophilic cerebral sclerosis diffuse sclerosis adrenoleukodystrophy MONDO:0018546 Serotoninergic syndrome is characterised by an excess of serotonin in the central nervous system, associated with the use of various agents, including selective serotonin reuptake inhibitors (SSRIs). serotonergic syndrome serotonin storm serotonin toxicity serotonin toxidrome serotonin syndrome MONDO:0018547 Acute tricyclic antidepressant (TCA) poisoning is a potentially lethal intoxication that is characterized by life-threatening arrhythmias (sinus tachycardias, premature ventricular contractions, ventricular arrhythmias), anticholinergic toxidrome (mydriasis, dry mucous membrane, tachycardia, hypertension), central nervous system toxicity (lethargy, coma, myoclonic jerks), refractory hypotension, and sudden death. acute tricyclic antidepressant poisoning MONDO:0018548 Acute poisoning with a membrane-stabilizing effect is potentially life-threatening. The principle drugs involved are tricyclic antidepressants, chloroquine, some types of beta blockers, class IA antiarrhythmics, carbamazepin and cocaine. acute poisoning by drugs with membrane-stabilizing effect MONDO:0018550 SPOAN and SPOAN-related disorder spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder MONDO:0018551 Patent urachus is a type of congenital urachal anomaly characterized by a persistent communication between the bladder and the umbilicus, secondary to non occlusion of the urachal lumen, manifesting as clear drainage from the umbilicus. patent urachus (disease) patent urachus patent urachus (disease) patent urachus MONDO:0018552 Urachal sinus is a type of congenital urachal anomaly resulting from the failure of the umbilical end of the urachus to close, without continuity to the bladder, and that is usually asymptomatic but can present with continuous cloudy umbilical discharge, tender midline infraumbilical mass and fever when infected. urachal sinus MONDO:0018553 Urachal diverticulum is the rarest type of congenital urachal anomaly resulting from the failure of the distal urachus to close at its point of connectivity to the bladder that is usually asymptomatic but can be associated with recurrent urinary tract infections and other complications. Vesicourachal diverticulum urachal diverticulum MONDO:0018554 A rare subgroup of pulmonary arterial hypertension (PAH) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction. https://github.com/monarch-initiative/mondo/issues/5781 PVOD and/or PCH pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis MONDO:0018555 Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis. Normosmic idiopathic hypogonadotropic hypogonadism central hypogonadism gonadotropic deficiency hypogonadism, hypogonadotropic hypogonadotropic hypogonadism hypogonadotropic hypogonadism with or without anosmia low gonadotropins (secondary hypogonadism) nIHH normosmic congenital hypogonadotropic hypogonadism secondary hypogonadism congenital idiopathic hypogonadotropic hypogonadism isolated congenital gonadotropin deficiency hypogonadotropism isolated hypogonadotropic hypogonadism hypogonadotropic hypogonadism MONDO:0018556 Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune, presynaptic disorder of neuromuscular transmission characterized by fluctuating muscle weakness and autonomic dysfunction frequently associated with small-cell lung cancer (SCLC). Eaton Lambert syndrome Eaton-Lambert syndrome LEMS Lambert Eaton myasthenic syndrome Lambert Eaton syndrome Lambert-Eaton syndrome myasthenic syndrome of Lambert-Eaton myasthenic-myopathic syndrome of Lambert-Eaton Lambert-Eaton myasthenic syndrome https://rarediseases.info.nih.gov/diseases/6851/lambert-eaton-myasthenic-syndrome MONDO:0018559 LUTO fetal lower urinary tract obstruction MONDO:0018561 A precocious puberty that involves the female organism. female organism precocious puberty precocious puberty of female organism precocious puberty in female MONDO:0018562 genetic otorhinolaryngological malformation MONDO:0018563 congenital absence of toes adactyly of foot MONDO:0018564 A rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements. https://github.com/monarch-initiative/mondo/issues/3664 Del(3)p(25.3) intellectual disability-epilepsy-stereotypic hand movement syndrome monosomy 3p25.3 3p25.3 microdeletion syndrome MONDO:0018565 Congenital urachal anomaly (CUA) describes a group of urachal remnants, found more frequently in males than females, that result from incomplete closure of the urachus (an embryological remnant of the allantois) during prenatal development, and that are usually asymptomatic (and found as an incidental finding on a radiological study) but can also present with umbilical discharge (in patent urachus or urachal sinus), infraumblical mass and pain, or with complications such as obstruction and infection. CUAs include patent urachus, urachal sinus, urachal cyst and urachal diverticulum. congenital urachal anomaly MONDO:0018566 short stature-advanced bone age-early-onset osteoarthritis syndrome MONDO:0018567 CMT2 due to TFG mutation autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation MONDO:0018569 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiovascular septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding. X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome MONDO:0018570 Hypophosphatasia (HPP) is a rare heritable metabolic disorder characterized by defective mineralization of bone and/or teeth in the presence of reduced activity of unfractionated serum alkaline phosphatase (ALP). The clinical spectrum is extremely wide, from stillbirth at one end to fractures of the lower extremities in adulthood, at the other, or even no bone manifestations (odontohypophosphatasia). HPP Rathburn disease deficiency of alkaline phosphatase deficiency of alkaline phosphatase (disorder) [ambiguous] phosphoethanolaminuria childhood hypophosphatasia hypophospatasia, childhood hypophosphatasia mild phosphoethanol-aminuria hypophosphatasia MONDO:0018571 5q23 microdeletion syndrome contractures-developmental delay-Pierre Robin syndrome MONDO:0018572 https://github.com/monarch-initiative/mondo/issues/5588 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome MONDO:0018573 https://github.com/monarch-initiative/mondo/issues/5723 intrauterine growth restriction-short stature-early adult-onset diabetes syndrome MONDO:0018574 https://github.com/monarch-initiative/mondo/issues/5588 intellectual disability-loss of expressive language-facial dysmorphism syndrome intellectual disability-expressive aphasia-facial dysmorphism syndrome MONDO:0018575 https://github.com/monarch-initiative/mondo/issues/5723 microcephalic primordial dwarfism-insulin resistance syndrome MONDO:0018576 non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy MONDO:0018577 PXE-like syndrome with retinitis pigmentosa pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa MONDO:0018579 disorder of ketone body transport disorder of keton body transport disorder of ketone body transport MONDO:0018580 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome MONDO:0018581 perm progressive encephalomyelitis with rigidity and myoclonus https://rarediseases.info.nih.gov/diseases/13110/progressive-encephalomyelitis-with-rigidity-and-myoclonus MONDO:0018582 Mahvash disease Nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumor Nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor GCGR-related hyperglucagonemia MONDO:0018583 human infection by orthopoxvirus MONDO:0018585 childhood AIS childhood arterial ischemic stroke pediatric AIS pediatric arterial ischemic stroke MONDO:0018586 NAE necrolytic acral erythema zinc-responsive necrolytic acral erythema MONDO:0018587 chronic obstetric brachial plexus injury chronic obstetric brachial plexus palsy non-recovering OBPI non-recovering OBPL non-recovering obstetric brachial plexus lesion MONDO:0018588 A rare, systemic amyloidosis characterized by slowly progressive renal disease presenting with proteinuria, hypertension and decreased glomerular filtration rate leading to progressive renal failure. Histology reveals amyloid deposits of leukocyte chemotactic factor-2 protein in the renal cortical interstitium, tubular basement membranes, glomeruli and the vessel walls. Extra-renal deposits can be seen in the liver, lungs, spleen and adrenal glands. LECT2 amyloidosis leukocyte chemotactic factor-2 amyloidosis ALECT2 amyloidosis MONDO:0018589 apolipoprotein A-IV amyloidosis AApoAIV amyloidosis MONDO:0018590 Beta2-microglobulinic amyloidosis ABeta2M amyloidosis MONDO:0018591 ITM2B-related amyloidosis ITM2B-related cerebral amyloid angiopathy familial cerebral amyloid angiopathy ITM2B amyloidosis MONDO:0018592 Cutaneous polyarteritis nodosa (CPAN) is a rare limited form of polyarteritis nodosa (PAN), characterized by cutaneous vasculitis and mild and transient extracutaneous manifestations such as mild arthralgia, arthritis,myalgia, and rarely peripheral neuropathy. cutaneous PAN cutaneous periarteritis nodosa cutaneous polyarteritis nodosa https://rarediseases.info.nih.gov/diseases/7415/cutaneous-polyarteritis-nodosa MONDO:0018593 primary PAN primary periarteritis nodosa primary polyarteritis nodosa MONDO:0018594 Secondary polyarteritis nodosa (PAN) is a rare serious form of PAN characterized by vasculitis in a background of viral infection, primarily with hepatitis B virus (HBV). Scondary PAN secondary PAN secondary periarteritis nodosa secondary polyarteritis nodosa MONDO:0018595 Single-organ polyarteritis nodosa (PAN) is a rare, often mild form of PAN characterized by limited disease without generalized manifestations, most often affecting the skin (cutaneous PAN), the brain, eyes, pancreas, testicles, ureter, breasts, or ovaries. Affected patients are often younger than those with systemic PAN and relapses appear to be more common. single-organ PAN single-organ periarteritis nodosa single-organ polyarteritis nodosa MONDO:0018596 Systemic polyarteritis nodosa (PAN) is a chronic systemic necrotizingvasculitis of adults and childrenaffecting small- and medium-sized vessels and characterized by formation of microaneurysms leading to serious generalized disease and multi-organ involvement. systemic PAN systemic periarteritis nodosa systemic polyarteritis nodosa MONDO:0018597 A lymphatic flow disorder that causes severe respiratory issues. In children with plastic bronchitis, lymph fluid builds in the airways and forms rubbery or caulk-like plugs (known as casts). These casts block the airways, making it difficult to breathe. croupous bronchitis fibrinous bronchitis pseudo-membranous bronchitis plastic bronchitis MONDO:0018599 https://github.com/monarch-initiative/mondo/issues/4069 congenital CNIII lesion congenital third cranial nerve palsy congenital oculomotor nerve palsy MONDO:0018600 https://github.com/monarch-initiative/mondo/issues/4069 benign congenital sixth cranial nerve palsy congenital CNVI palsy congenital abducens nerve palsy MONDO:0018601 autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome MONDO:0018602 NSTI necrotizing soft tissue infection MONDO:0018603 interstitial lung disease due to surfactant protein C deficiency interstitial lung disease due to SP-C deficiency MONDO:0018604 Hereditary nonpolyposis colorectal cancer characterized by the absence of germline mutations in DNA mismatch-repair genes. FCCTX familial colorectal cancer type X familial colorectal cancer type X MONDO:0018605 disorders of pentose/polyol metabolism MONDO:0018606 extensive peripapillary myelinated nerve fibers MONDO:0018607 CHR-RPE combined hamartoma of the retina and RPE combined hamartoma of the retina and retinal pigment epithelium MONDO:0018608 Pure autonomic failure (PAF) is a neurodegenerative disease that affects the sympathetic branch of the autonomous nervous system and that manifests with orthostatic hypotension. Bradbury Eggleston syndrome Bradbury-Eggleston syndrome PAF Pure dysautonomia Pure idiopatic dysautonomia idiopathic orthostatic hypotension idiopathic orthostatic hypotension (a symptom) orthostatic hypotension (a symptom) pure autonomic failure MONDO:0018610 early-onset posterior subcapsular cataract MONDO:0018611 early-onset lamellar cataract MONDO:0018612 A thyroid hormone deficiency present from birth. https://github.com/monarch-initiative/mondo/issues/4069 congenital hypothyroidism congenital iodine deficiency syndrome congenital goiter congenital hypothyroidism not due to iodine deficiency cretinism fetal iodine deficiency syndrome infantile hypothyroidism congenital hypothyroidism MONDO:0018613 heavy chain amyloidosis AH amyloidosis MONDO:0018614 A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities. https://github.com/monarch-initiative/mondo/issues/4985 undetermined EOEE undetermined early-onset epileptic encephalopathy undetermined early-onset epileptic encephalopathy MONDO:0018615 Hemicrania continua (HC) is a type of primary headache disorder, which means the headache is not caused by another medical condition. Symptoms of HC include constant mild to moderate pain on one side of the head (unilateral) with periods of more intense, severe, migraine -like pain (exacerbations). These severe pain periods can last from 20 minutes to days. The frequency of exacerbations also varies greatly. The headache stays on the same side of the head and usually without pain free periods. HC is more common in women and most often starts in adulthood, but may begin anywhere from 5 to 67 years of age. Diagnosis of hemicrania continua (HC) is made by ruling out other possible causes of the pain and by clinical symptoms. During the periods of severe pain, at least one of the following symptoms must be present on same side of the body as the headache: watering or red eyes (conjunctival injection), congested or runny nose, or drooping eyelid. In addition, the headache pain must respond to treatment with indomethacin. The cause of HC is unknown. Other treatments for those who cannot tolerate long term indomethacin therapy are being studied. hemicrania continua https://rarediseases.info.nih.gov/diseases/10795/hemicrania-continua MONDO:0018616 Central serous chorioretinopathy is a disease that causes fluid to build up under the retina, the back part of the inner eye that sends sight information to the brain. The fluid leaks from thechoroid (theblood vessel layer under the retina). The cause of this condition is unknown but stress can be a risk factor. Signs and symptoms include dim and blurred blind spot in the center of vision, distortion of straight linesand seeingobjectsas smaller or farther away. Many cases of central serous chorioretinopathy improve without treatment after 1-2 months. Laser treatment may be an option for other individuals. CSC CSCR central serous retinopathy central serous chorioretinopathy after bone marrow transplantation central serous choroidopathy central serous chorioretinopathy https://rarediseases.info.nih.gov/diseases/200/central-serous-chorioretinopathy MONDO:0018617 Baroreflex failure is a rare disorder that causes fluctuations in blood pressure with episodes of severe hypertension (high blood pressure) and elevated heart rate in response to stress, exercise, and pain. Individuals may also have hypotension (low blood pressure) with normal or reduced heart rate during periods of rest. Symptoms of baroreflex failure may include headache, sweating, and a heart rate that does not respond to medications. The onset of baroreflex failure may be very abrupt or more gradual. In many cases, the cause of baroreflex failure is not known. However, baroreflex failure can result from surgery or radiation treatment for cancers of the neck, injury to the nerves involved in sensing blood pressure, or a degenerative neurologic disease. Treatment usually involves medications to control blood pressure and heart rate along with stress reduction techniques. baroreflex failure https://rarediseases.info.nih.gov/diseases/10664/baroreflex-failure MONDO:0018620 hypothalamic adipsic hypernatraemia syndrome MONDO:0018621 lymphoplasmacytic lymphoma without Immunoglobulin M production lymphoplasmacytic lymphoma without IgM production MONDO:0018623 Postpartum psychosis is a rare psychiatric emergency in which symptoms of high mood and racing thoughts (mania), depression, severe confusion, loss of inhibition, paranoia, hallucinations and delusions set in, beginning suddenly in the first two weeks after childbirth. The symptoms vary and can change quickly. puerperal psychosis postpartum psychosis MONDO:0018624 spontaneous cerebrospinal fluid leak spontaneous intracranial hypotension MONDO:0018625 classic SPS classic stiff person syndrome MONDO:0018626 A condition resembling typhoid fever that is caused by infection by Salmonella enterica serovar Parathyphi. paratyphoid paratyphoid A fever paratyphoid B fever paratyphoid C fever paratyphoid a paratyphoid b paratyphoid c paratyphoid fever A paratyphoid fever B paratyphoid fever C paratyphoid fever MONDO:0018628 HIV-related cancer HIV-associated cancer MONDO:0018629 Stiff leg syndrome focal stiff-person syndrome focal stiff limb syndrome MONDO:0018630 Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer not associated with colorectal polyposis, endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinary tract cancer) that are frequently diagnosed at an early age. https://github.com/monarch-initiative/mondo/issues/1673 HNPCC Hereditary nonpolyposis colorectal cancer (HNPCC) colorectal cancer, hereditary nonpolyposis familial nonpolyposis colon cancer familial nonpolyposis colorectal cancer hereditary nonpolyposis colon cancer hereditary nonpolyposis colorectal cancer hereditary nonpolyposis colon cancer https://my.clevelandclinic.org/health/diseases/17195-lynch-syndrome--hnpcc MONDO:0018631 A rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty. https://github.com/monarch-initiative/mondo/issues/5166 HR hypotrichosis HYPT4 MUHH MUHH1 Marie Unna congenital hypotrichosis Marie Unna hereditary hypotrichosis 1 hypotrichosis 4 hypotrichosis caused by mutation in HR hypotrichosis type 4 hypotrichosis, Marie Unna type hypotrichosis, Marie Unna type, 1 Marie Unna hereditary hypotrichosis MONDO:0018632 https://github.com/monarch-initiative/mondo/issues/3664 11q22.2-q22.3 deletion syndrome Del(11)(q22.2q22.3) monosomy 11q22.2-q22.3 monosomy 11q22.2q22.3 11q22.2q22.3 microdeletion syndrome MONDO:0018633 20q11.2 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported. https://github.com/monarch-initiative/mondo/issues/3664 Del(20)(q11.2) monosomy 20q11 20q11.2 microdeletion syndrome MONDO:0018634 Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR),a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII). Most types of hereditary amyloidosis are inherited in an autosomal dominant manner. Treatment is focused on addressing symptoms of organ damage and slowing down the production of amyloid when possible through methods such as liver transplants. amyloidosis, Familial hereditary amyloidosis (disease) amyloidosis hereditary familial amyloidosis hereditary amyloidosis https://rarediseases.info.nih.gov/diseases/6611/hereditary-amyloidosis MONDO:0018635 idiopathic phalangeal acroosteolysis idiopathic phalangeal acro-osteolysis MONDO:0018636 Evans syndrome associated with primary immunodeficiency TPPII deficiency TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease triangle disease tripeptidyl-peptidase II deficiency autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome MONDO:0018637 familial chylomicronemia syndrome MONDO:0018638 An inherited or acquired disorder of electrolyte metabolism, characterized by the inability of the renal tubules to respond to aldosterone. It is manifested by hyperkalemic metabolic acidosis, urinary salt wasting, normal or increased aldosterone secretion and normal glomerular filtration rate. pseudohypoaldosteronism MONDO:0018639 Caudal regression-sirenomelia spectrum is a group of rare genetic developmental defect during embryogenesis disorders characterized by varying degrees of caudal abdomen, pelvic, renal, anorectal, urogenital and/or lumbosacral spine malformations, with or without lower limb fusion. Phenotype is highly variable ranging from minor forms with isolated coccygeal agenesis to severe forms presenting with a single rudimentary limb. Central nervous system anomalies have also been reported. caudal regression-sirenomelia spectrum MONDO:0018640 secondary vasculitis MONDO:0018642 A immunodeficiency disorder caused by loss of function mutation in NIK (MAP3K14). MAP3K14 non-severe combined immunodeficiency non-severe combined immunodeficiency caused by mutation in MAP3K14 primary immunodeficiency with multifaceted aberrant lymphoid immunity NIK deficiency MONDO:0018643 susceptibility to localized juvenile periodontitis MONDO:0018644 https://github.com/Orphanet/ORDO/issues/8 AD-SPG9B autosomal dominant complex spastic paraplegia type 9B MONDO:0018645 IgG4-related sclerosing cholangitis MONDO:0018646 A chronic, autoimmune inflammatory liver disorder characterized by narrowing and scarring of the lumen of the bile ducts. It is often seen in patients with ulcerative colitis. Signs and symptoms include jaundice, fatigue, and malabsorption. It may lead to cirrhosis and liver failure. sclerosing cholangitis (disease) Primary sclerosing cholangitis fibrosing cholangitis primary sclerosing cholangitis (PSC) sclerosing cholangitis sclerosing cholangitis (disease) sclerosing cholangitis MONDO:0018647 secondary sclerosing cholangitis MONDO:0018648 An intraosseous odontogenic neoplasm that usually arises from the mandible. It is characterized by the presence of a single or multiple cysts lined with parakeratinized stratified squamous epithelium. The neoplastic lesions may be solitary or multiple. It has the potential for aggressive behavior, local destruction, and recurrence. KTOC odontogenic Keratocyst odontogenic keratocystoma Keratocystic odontogenic tumor MONDO:0018653 PPAP Polymerase proofreading-related adenomatous polyposis Polymerase proofreading-related adenomatous polyposis MONDO:0018654 isolated neck extensor myopathy idiopathic dropped head syndrome MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome MONDO:0018656 TACH syndrome tremor-ataxia-central hypomyelination syndrome MONDO:0018657 CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA CAPOK pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome MONDO:0018658 19p13.3 microduplication syndrome is a rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features. https://github.com/monarch-initiative/mondo/issues/3492 dup(19)(p13.13) 19p13.3 microduplication syndrome MONDO:0018659 https://github.com/monarch-initiative/mondo/issues/3492 partial duplication of chromosome 19p partial duplication of the short arm of chromosome type 19 partial trisomy of chromosome 19p partial trisomy of the short arm of chromosome 19 partial duplication of the short arm of chromosome 19 MONDO:0018660 Hemophilia is a genetic disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency. hemophilia hemophilia MONDO:0018661 Mosquito-born virus disease characterized by a clinical course that may be asymptomatic or mild with fever, conjunctivitis, muscle and joint pain, headache, exanthema, but may also be associated with severe neurological (meningitis, meningoencephalitis and myelitis) and auto-immune (Guillain-Barre syndrome) complications, as well as a potential increase of birth defects (microcephaly) if the infection occurs during pregnancy. ZikV infection Zika Zika virus caused disease or disorder Zika virus disease Zika virus disease or disorder Zika virus infection Zika virus infectious disease congenital Zika syndrome congenital Zika virus infection Zika fever fever, Zika Zika virus infectious disease MONDO:0018662 Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur. brachyolmia, Hobaek/Toledo type brachyolmia, autosomal recessive autosomal recessive brachyolmia MONDO:0018663 https://github.com/monarch-initiative/mondo/issues/4521 Pelger-Huet anomaly with mild skeletal anomalies regressive spondylometaphyseal dysplasia regressive spondylometaphyseal dysplasia MONDO:0018664 A rare congenital anomaly where the heart is formed outside of the thoracic cavity. It is associated with intracardiac lesions and other structural malformations. ectopia cordis (disease) ectopia cordis ectopia cordis (disease) ectopia cordis MONDO:0018665 X-LAG (X-linked acrogigantism) due to a point mutation familial infantile gigantism due to a point mutation X-linked acrogigantism due to a point mutation MONDO:0018666 Hepatoblastoma (HB) is a malignant hepatic tumor and is the most common pediatric liver cancer. It is characterized by anorexia, weight loss and an enlarged abdomen. HB is more common in patients with familial adenomatous polyposis (FAP), and can occur in patients with other pre-existing liver conditions. About 5% of HB cases are associated with genetic factors, especially overgrowth syndromes, such as Beckwith-Wiedemann syndrome (BWS) or hemihypertrophy. HBL hepatoblastoma hepatoblastoma, malignant pediatric embryonal hepatoma pediatric hepatoblastoma hepatoblastoma MONDO:0018667 The presence of pus in the thoracic cavity, between the visceral and parietal pleura. pleural empyema (disease) abscess of pleural cavity empyema of pleura pleural empyema pleural empyema (disease) abscess of thorax empyema purulent pleurisy purulent pleuritis pyothorax thorax abscess pleural empyema MONDO:0018668 scedosporiosis MONDO:0018669 poisoning by venomous snake poisoning caused by venomous snake snake bite poisoning snake venom causing toxic effect snake venom poisoning toxic effect of bite of venomous snake snakebite envenomation MONDO:0018670 symptomatic form of fragile X syndrome in female carrier MONDO:0018671 IgG4-related kidney disease MONDO:0018672 IgG4-related periaortitis IgG4-related aortitis MONDO:0018673 Idiopathic hypertrophic pachymeningitis (IHP) is a rare disorder causing inflammation and thickening of the outer layer (dura) of the brain and/or spinal cord. IHP can be widespread or cause tumor-like lesions. Before IHP can be diagnosed, other conditions including sarcoidosis, tumors, meningioma, infections (syphilis, tuberculosis, and Lyme disease), and autoimmune diseases (rheumatoid arthritis, Sjogrenbs syndrome, Wegenerbs granulomatosis, and IgG4-related disease) must be ruled out. IHP often presents with headache and cranial nerve impairment. Treatment may involve prednisone and/or an immune suppressing drug. This treatment often improves symptoms, however complete recovery is rare. Surgery may be recommended for people with advanced or severe IHP. Some people with IHP have no symptoms and may not need treatment. idiopathic hypertrophic pachymeningitis idiopathic hypertrophic cranial pachymeningitis idiopathic hypertrophic craniospinal pachymeningitis idiopathic hypertrophic spinal pachymeningitis IgG4-related pachymeningitis MONDO:0018674 A chronic fibrotic inflammatory process affecting the salivary gland. Signs and symptoms include firm and painful swelling of the salivary gland, often associated with the presence of salivary gland stones. IgG4-related sialadenitis Kuttner tumor Kuttner's tumor Küttner tumor chronic sclerosing sialadenitis Editor note: check this. Unification based on Kuttner tumor synonym IgG4-related submandibular gland disease MONDO:0018675 A IgG4-related disease that involves the eye. IgG4-related disease of eye eye IgG4-related disease IgG4-related ophthalmic disorder MONDO:0018676 IgG4-related eosinophilic angiocentric fibrosis eosinophilic angiocentric fibrosis EAF Sinonasal eosinophilic angiocentric fibrosis eosinophilic angiocentric fibrosis https://rarediseases.info.nih.gov/diseases/2032/eaf MONDO:0018677 A rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton. https://github.com/monarch-initiative/mondo/issues/2826 heterotaxia heterotaxia syndrome heterotaxy syndrome heterotaxy, visceral incomplete situs inversus lateralization defect partial situs inversus situs ambiguous situs ambiguus visceral heterotaxy visceral heterotaxy MONDO:0018678 polyclonal hyperviscosity syndrome MONDO:0018679 primary cutaneous plasmacytosis MONDO:0018680 A pseudolymphoma of the skin. lymphadenosis Benigna cutis lymphocytoma cutis pseudolymphoma of Spiegler cutaneous pseudolymphoma MONDO:0018681 https://github.com/monarch-initiative/mondo/issues/3680 https://github.com/monarch-initiative/mondo/issues/5588 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome MONDO:0018682 https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/5588 congenital absence of pain with severe intellectual disability congenital analgesia with severe intellectual disability congenital insensitivity to pain with preserved temperature sensation congenital insensitivity to pain with severe non-progressive cognitive delay congenital insensitivity to pain with severe intellectual disability MONDO:0018683 Noninherited ichthyosis associated with malignancy; autoimmune, inflammatory, nutritional, metabolic, infectious, and neurologic diseases; or medications. https://github.com/monarch-initiative/mondo/issues/2114 acquired ichthyosis acquired ichthyosis (disease) ichthyosis acquisita fish scale disease, acquired ichthyosis, acquired acquired ichthyosis https://rarediseases.info.nih.gov/diseases/476/ichthyosis-acquired MONDO:0018684 Idiopathic neonatal atrial flutter (AFL) is a rare rhythm disorder, characterized by sustained tachycardia in newborns and infants with an atrial rate often at around 440 beats/minute (range 340-580). AFL may manifest as asymptomatic tachycardia, congestive heart failure or hydrops. neonatal cardiac dysrhythmia idiopathic neonatal atrial flutter MONDO:0018685 Incessant infant ventricular tachycardia is a rare type of ventricular tachycardia (VT) characterized by the presence of tachycardia originating from the ventricles, observed for more than 10% of a 24 hour monitoring period. Patients are either asymptomatic or present congestive heart failure. incessant infant ventricular tachycardia MONDO:0018686 An instance of Creutzfeldt Jacob disease that is acquired during the lifetime of the individual. acquired CJD acquired Creutzfeldt Jacob disease sporadic CJD acquired Creutzfeldt-Jakob disease MONDO:0018687 A rare, milder form of amyotrophic lateral sclerosis. It is characterized by a slowly progressive clinical course. Signs and symptoms include muscle weakness, atrophy, and fasciculation. PMA progressive spinal muscular atrophy pure progressive muscular atrophy progressive muscular atrophy MONDO:0018688 anti-p200 pemphigoid MONDO:0018689 An aggressive plasma cell neoplasm characterized by the presence of neoplastic plasma cells in the peripheral blood. It is characterized by the presence of a circulating clonal plasma cell count that exceeds 2x10^9/L or is 20% of the leukocyte differential count. PCL leukemia plasmacytic plasma cell leukemia plasmacytic leukemia leukemia, plasma cell plasma cell leukemia https://rarediseases.info.nih.gov/diseases/9373/plasma-cell-leukemia MONDO:0018690 A rare syndrome characterized by an abnormally dilated pupil, hypoflexia, and diaphoresis. The syndrome is usually caused by a viral or bacterial infection. The abnormally dilated pupil is caused by damage to postganglionic parasympathetic fibers innervating the eye. Adie pupil Adie syndrome Adie's pupil Adie's pupil or syndrome Adie's pupil syndrome Adie's syndrome Holmes-Adie syndrome tonic pupil tonic pupil-tendon areflexia syndrome poorly Reacting pupils tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes Holmes-Adie syndrome MONDO:0018692 variably protease-sensitive prionopathy MONDO:0018694 A congenital or acquired abnormal communication between the trachea and the esophagus. H-type tracheoesophageal fistula tracheo-esophageal fistula tracheoesophageal fistula isolated tracheoesophageal fistula isolated tracheo-esophageal fistula MONDO:0018695 Infection of domestic and wild fowl and other birds with influenza A virus. Avian influenza usually does not sicken birds, but can be highly pathogenic and fatal in domestic poultry. avian flu bird flu avian influenza MONDO:0018696 Corticobasal syndrome (CBS) is a rare neurodegenerative disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction. corticobasal syndrome MONDO:0018697 https://github.com/monarch-initiative/mondo/issues/3664 Del(1)(p35.2) deletion 1p35.2 monosomy 1p35.2 1p35.2 microdeletion syndrome MONDO:0018698 An instance of neuroendocrine tumor of the small intestine that is caused by an inherited modification of the individual's genome. hereditary neuroendocrine tumor of small bowel hereditary neuroendocrine tumor of the small intestine hereditary small intestine neuroendocrine neoplasm hereditary neuroendocrine tumor of small intestine MONDO:0018701 congenital nemaline myopathy MONDO:0018702 A clinicopathologic variant of multicentric Castleman's disease characterized by thrombocytopenia, ascites (anasarca), microcytic anemia, myelofibrosis, renal dysfunction, and organomegaly TAFRO syndrome thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome Castleman-Kojima disease MONDO:0018703 SGF isolated splenogonadal fusion MONDO:0018705 https://github.com/monarch-initiative/mondo/issues/5588 ANOAC axonal neuropathy-optic atrophy-cognitive deficit syndrome infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome MONDO:0018706 syndromic sensorineural deafness due to COXPD syndromic sensorineural hearing loss due to COXPD syndromic sensorineural deafness due to combined oxidative phosphorylation defect MONDO:0018708 OTSCC oral tongue squamous cell carcinoma squamous cell carcinoma of the oral tongue MONDO:0018709 https://github.com/monarch-initiative/mondo/issues/5588 X-linked intellectual disability-hypotonia-movement disorder syndrome MONDO:0018710 https://github.com/monarch-initiative/mondo/issues/5588 megalencephaly-severe kyphoscoliosis-overgrowth syndrome MONDO:0018711 https://github.com/monarch-initiative/mondo/issues/5588 intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome MONDO:0018712 An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of spindle, plump, and epithelioid endothelial cells and cellular atypia. composite hemangioendothelioma composite hemangioendothelioma MONDO:0018713 An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of hobnail endothelial cells and formation of arborizing vascular channels. hobnail hemangioendothelioma retiform hemangioendothelioma retiform hemangioendothelioma MONDO:0018714 An intermediate, rarely metastasizing blood vessel neoplasm. It is characterized by the presence of lymphatic-like vascular channels and papillary endothelial proliferation. Dabska tumor malignant endothelial papillary angioendothelioma papillary Endovascular angioendothelioma papillary intralymphatic angioendothelioma pila primary intralymphatic angioendothelioma MONDO:0018715 A hemangioma present and fully formed at birth. The different types are Rapidly involuting congenital hemangiomas (RICH), Partially involuting congenital hemangioma (PICH) and Non-involuting congenital hemangiomas (NICH). congenital hemangioma congenital angioma Editor note: this is distinct from inflantile hemangioma congenital hemangioma MONDO:0018716 A clinical subtype of congenital hemangioma that begins as a rapidly involuting congenital hemangioma (RICH) but fails to completely involute and persists as a non-involuting congenital hemangioma (NICH)-like lesion PICH partially involuting congenital hemangioma MONDO:0018717 mixed cystic lymphangioma mixed cystic lymphatic malformation MONDO:0018720 common cystic lymphatic malformation MONDO:0018724 https://github.com/monarch-initiative/mondo/issues/5588 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome MONDO:0018725 https://github.com/monarch-initiative/mondo/issues/5588 7q36.3 microduplication syndrome dup(7)(q36.3) corpus callosum agenesis-macrocephaly-hypertelorism syndrome MONDO:0018731 lethal multiple congenital anomalies/dysmorphic syndrome MONDO:0018733 DYRK1A-related intellectual disability syndrome due to a point mutation intellectual disability syndrome due to a DYRK1A point mutation MONDO:0018734 A skin hemangioma characterized by the presence of epidermal hyperplasia. verrucous keratotic hemangioma verrucous keratotic hemangioma (morphologic abnormality) verrucous hemangioma MONDO:0018735 Human MALT1 wild-type allele is located in the vicinity of 18q21 and is approximately 79 kb in length. This allele, which encodes mucosa associated lymphoid tissue lymphoma translocation gene 1 protein, plays a role in the modulation of the nuclear factor kappa B complex signaling cascade. The gene is involved in a chromosomal translocation t(11;18)(q21;q21) with the BIRC2 gene in mucosa-associated lymphoid tissue lymphomas. DKFZp434L132 MALT1 wt allele MLT MLT1 cutaneovisceral angiomatosis-thrombocytopenia syndrome mucosa associated lymphoid tissue lymphoma translocation Gene 1 wt allele multifocal lymphangioendotheliomatosis with thrombocytopenia multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome MONDO:0018736 A generalized lymphatic anomaly characterized by kaposiform spindled lymphatic endothelial cells. KLA Despite the histological similarity between KHE and KLA, the clinical and imaging features are distinctive. KHE-spectrum lesions are unifocal vascular tumors, except in rare reports of multifocal disease. KHE typically presents in early infancy with a characteristic purpuric, cutaneous lesion[PMID:24252784] kaposiform lymphangiomatosis MONDO:0018737 caps catastrophic APS catastrophic antiphospholipid syndrome MONDO:0018738 A benign neoplasm that involves the metanephros. benign metanephric tumour MONDO:0018739 neonatal alloimmune neutropenia MONDO:0018740 Methemoglobinemia that is caused by exposure to certain drugs (xylocaine and benzene). acquired methemoglobinemia drug induced methemoglobinemia drug-induced methemoglobinemia MONDO:0018741 acetaminophen poisoning paracetamol poisoning MONDO:0018742 familial type 1 gNET hereditary type 1 gNET Editor note: align gNET typology. See PMID:9041691 https://jamanetwork.com/journals/jamasurgery/fullarticle/390859 familial gastric type 1 neuroendocrine tumor MONDO:0018743 immune-mediated acquired neuromuscular junction disease MONDO:0018744 Oligodendrogliomas are cerebral tumors that are differentiated from other gliomas on the basis of their unique genetic characteristics and better response to chemotherapy. These tumors are classified according to their grade (low grade oligodendrogliomas: grade II of the WHO classification and anaplastic oligodendrogliomas: grade III of the WHO classification) and according to their pure or mixed histology (oligoastrocytomas). oligodendroglial neoplasm oligodendroglial tumor oligodendroglial tumor MONDO:0018745 Pemphigus is a group of chronic autoimmune skin diseases characterised by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, one of which is superficial pemphigus, including the seborrheic, erythematosus, foliaceous and herpetiform variants. superficial pemphigus MONDO:0018746 Mucous membrane pemphigoid is a bullous dermatosis characterised clinically by blistering of the mucous membranes followed by scarring, and immunologically by IgG, IgA and/or C3 deposits on the epidermal basement membrane. Mucosynechial pemphigoid benign mucous Membrane pemphigoid cicatricial pemphigoid mucosal pemphigoid benign mucosal pemphigoid benign mucous membrance pemphigoid benign mucous membrane pemphigoid benign mucous membrane pemphigoid with ocular involvement cicatricial pemphigoid with ocular involvement ocular pemphigoid ocular pemphigus mucous membrane pemphigoid MONDO:0018747 Epidermolysis bullosa acquisita (EBA) is a subepidermal bullous dermatosis of autoimmune origin that was named as a result of its resemblance to hereditary forms of epidermolysis bullosa (HEB), most notably dystrophic HEB. EBA acquired epidermolysis bullosa epidermolysis bullosa Aquisita epidermolysis bullosa acquisita EB acquisita acquired epidermolysis bullosa https://rarediseases.info.nih.gov/diseases/6360/epidermolysis-bullosa-acquisita MONDO:0018748 Autoimmune disease characterized by subepidermal blisters and linear deposition of autoantibodies at the dermoepidermal junction. The accumulated autoantibodies are of immunoglobulin A and occasionally immunoglobulin G classes against epidermal basement membrane proteins. The dermatosis is sometimes associated with malignancies and use of certain drugs (e.g., vancomycin). linear IgA Dermatosis MONDO:0018749 Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells. HPFH-beta-thalassemia syndrome hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome MONDO:0018751 An instance of otorhinolaryngologic disease that is caused by a modification of the individual's genome. https://github.com/monarch-initiative/mondo/issues/5114 2022-09-01 genetic otorhinolaryngologic disease Reason: out of scope. MONDO:excludeGeneticFormOfDisease and MONDO:excludeGroupingClass. Term to consider: MONDO:0024623 otorhinolaryngologic disease genetic otorhinolaryngologic disease MONDO:0018752 Exertional heat stroke exercise-induced malignant hyperthermia MONDO:0018754 cyanide poisoning MONDO:0018755 Scorpion envenomation is a rare intoxication caused by a scorpion sting which typically manifests with localized pain, edema, erythema, and paresthesias at the site of the sting and, when severe, progresses to produce systemic symptoms of variable severity that include respiratory difficulties, abnormal systemic blood pressure, cardiac arrhythmia, and a combination of parasympathetic (i.e. excessive salivation and lacrimation, diaphoresis, miosis, frequent urination, diarrhea, vomiting, priapism) and sympathetic (e.g. hyperthermia, hyperglycemia, mydriasis) manifestations. Neurological manifestations may also be associated, such as abnormal eye movements, blurred vision, agitation and restlessness, as well as muscle fasciculations and spasms. Signs and symptoms are highly variable and in most severe cases may lead to cardiogenic shock and pulmonary edema. poisoning caused by scorpion venom poisoning due to scorpion venom toxic effect of venom of scorpion scorpion envenomation MONDO:0018756 euthyroid Graves ophthalmopathy Editor note: complication of graves, no thyroid todo see https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898069/ and MESH:D049970 euthyroid Graves orbitopathy MONDO:0018757 Supratip dysplasia is a rare, congenital, non-syndromic, nose and cavum malformation characterized by the presence of a bulbous, soft tissue hypertrophy located in the middle-to-distal third of the nasal dorsum, in association with deformed, slightly laterally- and caudally-placed nasal alae and a scar-like atrophic skin lesion located at the nasal tip. Respiratory function is not affected. supratip dysplasia MONDO:0018758 Familial patent arterial duct is a rare, genetic, non-syndromic, congenital anomaly of the great arteries characterized by the presence of an isolated patent arterial duct (PDA) (i.e. failure of closure of ductus arteriosis after birth) in several members of the same family. Clinical presentation is similar to the sporadic form and may range from neonatal-onset tachypnea, diaphoresis and failure to thrive to adult-onset atrial arrhythmia, signs and symptoms of heart failure and cyanosis limited to the lower extremities. familial patent arterial duct MONDO:0018759 childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome MONDO:0018760 https://github.com/monarch-initiative/mondo/issues/5424 https://github.com/monarch-initiative/mondo/issues/5588 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome DeSanto-Shinawi syndrome MONDO:0018761 SMARCA4-deficient thoracic sarcoma SMARCA4-deficient sarcoma of thorax MONDO:0018762 Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. congenital combined pituitary hormone deficiency congenital hypopituitarism non-acquired combined pituitary hormone deficiency MONDO:0018763 brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome tubulinopathy-associated dysgyria MONDO:0018764 Microcephalic primordial dwarfism due to RTTN deficiency is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by primary microcephaly, profound short stature, moderate to severe intellectual disability, global developmental delay, craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) and variable brain malformations, including simplified gyration, pachygyria, polymicrogyria, reduced sulcation, dysgenesis of corpus callosum and deformed ventricles. Renal anomalies, bilateral hearing loss, multiple joint contractures, severe failure to thrive and a sacral lesion cephalad to the gluteal crease have also been reported. microcephalic primordial dwarfism due to RTTN deficiency MONDO:0018765 CMUSE cryptogenic multifocal ulcerous stenosing enteritis MONDO:0018766 CEAS chronic enteropathy associated with SLCO2A1 gene MONDO:0018767 Any trimethylaminuria in which the cause of the disease is a mutation in the FMO3 gene. https://github.com/monarch-initiative/mondo/issues/3448 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4985 trimethylaminuria TMAU TMAuria fish malodor syndrome fish odor syndrome fish-odor syndrome stale fish syndrome severe primary trimethylaminuria MONDO:0018768 Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia. FCAS FCU familial cold autoinflammatory syndrome familial cold urticaria familial polymorphous cold eruption familial cold autoinflammatory syndrome MONDO:0018769 An intestinal infection with Isospora belli. Cystoisospora belli caused disease or disorder Cystoisospora belli disease or disorder Cystoisospora belli infectious disease Isosporosis cystoisosporiasis infection by Isospora belli and Isospora hominis isosporiasis MONDO:0018770 Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes. JATD Jeune asphyxiating thoracic dystrophy Jeune syndrome asphyxiating thoracic dystrophy of the newborn short-rib thoracic dysplasia short-rib thoracic dysplasia with or without polydactyly thoracic pelvic phalangeal dystrophy ATD Chondroectodermal dysplasia-like syndrome Jeune's syndrome asphyxiating thoracic dystrophy infantile thoracic dystrophy Jeune syndrome MONDO:0018771 A congenital heart malformation that involves the interventricular septum. https://github.com/monarch-initiative/mondo/issues/4069 congenital anomaly of interventricular communication congenital heart malformation of interventricular septum congenital ventricular septal anomaly interventricular septum congenital heart malformation rare congenital anomaly of ventricular septum congenital anomaly of ventricular septum MONDO:0018772 Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. CPD IV JBTS Joubert syndrome Joubert syndrome type A Joubert-Boltshauser syndrome cerebelloparenchymal disorder IV classic Joubert syndrome pure Joubert syndrome cerebellar vermis agenesis Joubert syndrome MONDO:0018773 autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome MONDO:0018774 A rare, genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy, and dental enamel anomalies. Variable features include failure to thrive, developmental delay, and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis. https://github.com/monarch-initiative/mondo/issues/324 EKC syndrome erythrokeratodermia-cardiomyopathy syndrome MONDO:0018775 https://github.com/monarch-initiative/mondo/issues/5114 2022-09-01 axonal HMSN Reason: out of scope. MONDO:excludeGroupingClass. Term to consider:MONDO:0005244 peripheral neuropathy axonal hereditary motor and sensory neuropathy MONDO:0018776 demyelinating HMSN demyelinating hereditary motor and sensory neuropathy demyelinating hereditary motor and sensory neuropathy MONDO:0018777 autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome MONDO:0018778 Charcot-Marie-Tooth disease intermediate type Intermediate hereditary motor and sensory neuropathy Charcot-Marie-Tooth disease dominant intermediate Charcot-Marie-Tooth disease recessive intermediate intermediate Charcot-Marie-Tooth disease MONDO:0018779 hypercontractile muscle stiffness syndrome MONDO:0018780 congenital generalized hypercontractile muscle stiffness syndrome MONDO:0018781 Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss. KID/HID syndrome Senter syndrome ichthyosis hystrix Rheydt type keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome keratitis, ichthyosis, and deafness (KID) syndrome Editor note: Orphanet classifies as both AD and AR KID syndrome MONDO:0018782 type 1 interferonopathy MONDO:0018783 fibroblastic rheumatism MONDO:0018784 Pediatric multiple sclerosis (MS) is a rare multiple sclerosis variant characterized by the onset of multiple sclerosis (i.e. one or multiple episodes of clinical CNS symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders) before the age of 18 years old. Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on intial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported. MS pediatric multiple sclerosis, pediatric pediatric MS pediatric multiple sclerosis https://rarediseases.info.nih.gov/diseases/10443/pediatric-multiple-sclerosis MONDO:0018786 A rare genetic cerebral small vessel disease characterized by recurrent ischemic strokes, often with a predilection for the pons, with typical onset in the fourth or fifth decade of life. Patients present progressive cognitive and motor impairment with pyramidal, bulbar, and cerebellar symptoms, among others. Brain imaging shows multiple lacunar infarcts, typically with involvement of the pons, as well as variable leukoencephalopathy of the cerebral hemispheres. PADMAL pontine autosomal dominant microangiopathy with leukoencephalopathy MONDO:0018788 COL4A1 or COL4A2-related cerebral angiopathy COL4A1 or COL4A2-related cerebral small vessel disease MONDO:0018791 A rare cerebral vasculopathy characterized by a progressive stenosis of the terminal portion of the internal carotid arteries and the development of abnormal collateral vessels. Moyomoya angiopathy MONDO:0018793 type 1 condylar hyperplasia primary condylar hyperplasia MONDO:0018794 PLA2G4A-related platelet dysfunction cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS GURDP Phospholipase A2, Group Iva, Deficiency of cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder MONDO:0018795 https://github.com/monarch-initiative/mondo/issues/5114 https://github.com/monarch-initiative/mondo/issues/5518 syndromic constitutional thrombocytopenia MONDO:0018796 Cconstitutional thrombocytopenia without extra-hematopoietic manifestation non-syndromic constitutional thrombocytopenia isolated constitutional thrombocytopenia MONDO:0018800 Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs). Kallman syndrome Kallman's syndrome Olfacto-genital pathological sequence congenital hypogonadotropic hypogonadism with anosmia familial hypogonadism with anosmia hypogonadism with anosmia hypogonadotropic hypogonadism with anosmia Kallmann syndrome MONDO:0018801 Congenital bilateral absence of the vas deferens (CBAVD) is a condition leading to male infertility. https://github.com/monarch-initiative/mondo/issues/4069 congenital bilateral agenesis of vas deferens congenital bilateral aplasia of vas deferens congenital bilateral absence of vas deferens MONDO:0018804 MYO5B deficiency MYO5B-related progressive familial intrahepatic cholestasis MONDO:0018805 Cystic dilatation of the hepatic duct or bile duct. https://github.com/monarch-initiative/mondo/issues/3613 bile duct cysts choledochal cyst choledochal cysts choledochocele congenital choledochal cyst congenital cystic dilatation of the biliary tract bile duct cyst MONDO:0018806 PIHL primary hepatolithiasis primary intrahepatic lithiasis MONDO:0018807 IAD idiopathic adult ductopenia idiopathic ductopenia MONDO:0018808 Caroli syndrome MONDO:0018809 idiopathic peliosis hepatitis idiopathic peliosis hepatis MONDO:0018810 Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated. lethal hydranencephaly-diaphragmatic hernia syndrome MONDO:0018811 Congenital portosystemic shunt is a rare, congenital anomaly of the great veins characterized by an abnormal communication between one or more veins of the portal and the caval systems, resulting in complete or partial diversion of the portal blood away from the liver to the systemic circulation. Clinical manifestations include liver atrophy, hypergalactosemia without uridine diphosphate enzyme deficiency, hyperammonemia, encephalopathy (resulting in learning disabilities, extreme fatigability and seizures), pulmonary hypertension, hypoxemia from hepatopulmonary syndrome and benign or malignant tumours. https://github.com/monarch-initiative/mondo/issues/4069 congenital portosystemic venous fistula congenital portosystemic shunt MONDO:0018812 MSH3-related AFAP MSH3-related attenuated FAP MSH3-related attenuated familial adenomatous polyposis MSH3-related attenuated familial polyposis coli MSH3-related attenuated familial adenomatous polyposis MONDO:0018813 high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement MONDO:0018814 https://github.com/monarch-initiative/mondo/issues/711 non-SCID non-severe combined immunodeficiency non-SCID combined immunodeficiency MONDO:0018815 A locally aggressive and destructive benign cystic lesion of the bone. It is characterized by the formation of multiloculated hemorrhagic cystic spaces which are separated by fibrous septa. It can arise from any bone, but usually affects the metaphysis of long bones. It manifests with pain and swelling and may recur following curettage. aneurysmal bone cyst (disease) ABC aneurysmal bone cyst aneurysmal bone cyst (disease) aneurysmal bone cysts aneurysmal cyst of bone aneurysmal cyst of the bone aneurysmal bone cyst https://rarediseases.info.nih.gov/diseases/8646/aneurysmal-bone-cysts MONDO:0018816 Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits, and intralobular bile-pigment accumulations. Some patients may also have renal disease. NSC sclerosing cholangitis, neonatal isolated neonatal sclerosing cholangitis MONDO:0018818 facial diplegia with paresthesias variant of GBS facial diplegia with paresthesias variant of Guillain-BarrC) syndrome facial diplegia with paresthesias variant of Guillain-Barré syndrome facial diplegia with paresthesias MONDO:0018820 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy. https://github.com/monarch-initiative/mondo/issues/5588 MECRCN TANGO2 deficiency metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration transport and golgi organization protein 2 (TANGO2) deficiency recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome https://rarediseases.info.nih.gov/diseases/13423/tango2-related-metabolic-encephalopathy-and-arrhythmias MONDO:0018821 X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females X-linked facial dysmorphism-short stature-choanal atrsia-intellectual disability syndrome limited to females X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability MONDO:0018822 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia). https://github.com/monarch-initiative/mondo/issues/5588 global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome MONDO:0018823 https://github.com/monarch-initiative/mondo/issues/5588 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome MONDO:0018824 Pyoderma gangrenosum (PG) is a primarily sterile inflammatory neutrophilic dermatosis characterized by recurrent cutaneous ulcerations with a mucopurulent or hemorrhagic exudate. pyoderma gangrenosum https://rarediseases.info.nih.gov/diseases/7510/pyoderma-gangrenosum MONDO:0018825 PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders. https://github.com/monarch-initiative/mondo/issues/5588 PYCR2-related microcephaly-progressive leukoencephalopathy MONDO:0018826 A rare acquired demyelinating polyneuropathy characterized by asymmetrical distal weakness of the upper or lower extremities and motor dysfunction with adult onset. It is considered to be a variant of chronic inflammatory demyelinating polyneuropathy. https://github.com/monarch-initiative/mondo/issues/2760 MADSAM multifocal acquired demyelinating sensory and motor neuropathy Lewis-Sumner syndrome https://rarediseases.info.nih.gov/diseases/13070/lewis-sumner-syndrome MONDO:0018827 An instance of Chilblain lupus that is caused by an inherited modification of the individual's genome. https://github.com/monarch-initiative/mondo/issues/5682 hereditary Chilblain lupus hereditary chilblain lupus familial chilblain lupus MONDO:0018828 pseudo-TORCH syndrome 2 PTORCH2 USP18 deficiency pseudo-TORCH syndrome 2 MONDO:0018829 An instance of schizencephaly that is caused by an inherited modification of the individual's genome. familial schizencephaly hereditary schizencephaly familial schizencephaly MONDO:0018830 Kimura disease is a benign and chronic inflammatory disorder of unknown etiology, occurring mainly in Asian countries (very rarely in Western countries) and predominantly affecting young men, that usually presents with a solitary or multiple non-tender subcutaneous masses in the head and neck region (in particular the preauricular and submandibular area) and/or generalized painless lymphadenopathy, often with salivary gland involvement. Characteristic laboratory findings include blood eosinophilia and markedly elevated serum immunoglobulin E (IgE) levels. It is often associated with autoinflammatory disorders (i.e. ulcerative colitis, bronchial asthma) and a co-existing renal disease. https://github.com/monarch-initiative/mondo/issues/3599 Kimura's disease eosinophilic lymphogranuloma angiolymphoid hyperplasia with eosinophilia eosinophilic granuloma of soft tissue eosinophilic hyperplastic lymphogranuloma eosinophilic lymphofollicular granuloma eosinophilic lymphofolliculosis Kimura disease https://rarediseases.info.nih.gov/diseases/6835/kimura-disease MONDO:0018831 HTRA1-related cerebral angiopathy HTRA1-related cerebral small vessel disease MONDO:0018832 HTRA1-related autosomal dominant cerebral angiopathy HTRA1-related autosomal dominant cerebral small vessel disease MONDO:0018834 https://github.com/monarch-initiative/mondo/issues/5762 2023-04-01 ADSSL1-related distal myopathy Reason: duplicate. This will be merged with MONDO:0014877 myopathy, distal, 5 adenylosuccinate synthetase-like 1-related distal myopathy MONDO:0018835 Nodular regenerative hyperplasia of the liver is a rare parenchymatous liver disease characterized by diffuse benign transformation of the hepatic parenchyma into multiple small nodules (composed of regenerating hepatocytes) and that is usually asymptomatic but can lead to the development of non-cirrhotic portal hypertension and its complications, including esophageal variceal bleeding, hypersplenism and ascites. It is often associated with rheumatologic, autoimmune, hematologic, and myeloproliferative disorders as well as various immune deficiency states and exposure certain drugs and toxins. non-cirrhotic nodulation miliary hepatocellular adenomatosis nodular regenerative hyperplasia non-cirrhotic nodular transformation non-cirrhotic portal hypertension nodular regenerative hyperplasia of the liver MONDO:0018837 Vasculitis, characterized by inflammatory lesions in the wall of vessels, may be due to different viruses. postinfectious vasculitis MONDO:0018838 The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterised by simplification or absence of folding) associated with abnormal organisation of the cortical layers as a result of neuronal migration defects during embryogenesis. https://github.com/monarch-initiative/mondo/issues/1312 https://github.com/monarch-initiative/mondo/issues/5588 lissencephaly lissencephaly (disease) lissencephaly spectrum disorders Broad gyri of cerebrum large gyri of cerebrum macrogyria pachygyria Lissencephaly is a spectrum of gyral abnormalities. Lissencephaly, pchygyria and subcortical band heterotopia are known to be caused by the same genes. The distinction between these radiographic terms is not clear cut. The clinical consequences for these radiographic abnormalities is also often overlapping. lissencephaly spectrum disorders MONDO:0018839 An instance of schizencephaly that is acquired during the lifetime of the individual. acquired schizencephaly acquired schizencephaly MONDO:0018840 A congenital disorder usually inherited in an autosomal recessive pattern. It affects the hepatobiliary system and the kidneys. It is characterized by liver fibrosis, portal hypertension, and renal cysts. isolated CHF congenital hepatic fibrosis nonsyndromic congenital hepatic fibrosis congenital fibrose liver isolated congenital hepatic fibrosis https://rarediseases.info.nih.gov/diseases/6168/congenital-hepatic-fibrosis MONDO:0018841 BASD CBA bile acid synthesis defect, congenital cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency congenital bile acid synthesis defect MONDO:0018842 Primary effusion lymphoma (PEL) is a large B-cell lymphoma located in the body cavities, characterized by pleural, peritoneal, and pericardial fluid lymphomatous effusions and that is always associated with human herpes virus-8 (HHV-8). PEL body cavity-based lymphoma primary Effusion Lymphoma AIDS-related lymphoma primary effusion lymphoma https://rarediseases.info.nih.gov/diseases/9247/primary-effusion-lymphoma MONDO:0018843 A embryonal carcinoma that involves the central nervous system. central nervous system embryonal carcinoma embryonal carcinoma of CNS embryonal carcinoma of the CNS embryonal carcinoma of the central nervous system embryonal carcinoma embryonal carcinoma of the central nervous system MONDO:0018844 Urachal cyst is a congenital urachal anomaly characterized by a failure of complete closure of the urachus, in which both ends are closed but the central lumen remains patent. It is typically asymptomatic but may become clinically significant when infected, presenting as a mass in the umbilical region accompanied by abdominal pain and fever. urachal cyst (disease) urachal cyst urachal cyst (disease) urachal cyst MONDO:0018845 Focal myositis is a rare inflammatory myopathy characterized by a localized swelling of skeletal muscle that is usually located in the lower extremities. focal nodular myositis inflammatory pseudotumor of skeletal muscle focal myositis MONDO:0018846 An extremely rare congenital abnormality characterized by the complete absence of the penis. It may be associated with other genitourinary abnormalities. Aphallia Aphallus congenital absence of penis penis agenesis agenesis of the penis micropenis penis agenesia penile agenesis MONDO:0018847 omphalomesenteric cyst https://rarediseases.info.nih.gov/diseases/4081/omphalomesenteric-cyst MONDO:0018848 Retroperitoneal fibrosis (RPF) is characterized by the development of a fibrotic mass surrounding retroperitoneal structures, such as aorta, vena cava, ureters and psoas muscle. Ormond disease idiopathic retroperitoneal fibrosis retroperitoneal fibrosis Ormond's disease Editor note: TODO consider splitting out RF as separate term IgG4-related retroperitoneal fibrosis MONDO:0018849 Dentinogenesis imperfecta (DGI) is a hereditary dentin defect characterized by abnormal dentin structure resulting in abnormal tooth development. dentinogenesis imperfecta (disease) DGI DGI without OI DI dentinogenesis imperfecta dentinogenesis imperfecta (disease) dentinogenesis imperfecta without osteogenesis imperfecta non-syndromic DGI non-syndromic dentinogenesis imperfecta opalescent teeth without OI opalescent teeth without osteogenesis imperfecta dentinogenesis imperfecta MONDO:0018850 Proliferating trichilemmal tumor is a rare large, multinodular, usually benign, tumor that is generally located in the posterior part of the scalp in aged women (over 50 years). It first appears as a painless nodule that later grows into a solid or partially cystic tumor that is mobile over the underlying subcutaneous tissues. It can present ulceration, inflammation or even bleeding and can cause necrosis of the adjacent tissues. Pilar cyst Pilar tumor proliferating Pilar tumor proliferating Tricholemmal tumor proliferating trichilemmal tumor proliferating pilar cyst proliferating pilar cystic tumor proliferating trichilemmal cyst https://rarediseases.info.nih.gov/diseases/4509/proliferating-trichilemmal-cyst MONDO:0018851 Multiple familial keratoacanthoma (KA) of Witten and Zak is a rare a rare inherited skin cancer syndrome and is characterized by the coexistence of features characteristic of both multiple KA, Ferguson Smith type and generalized eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces. Transmission is autosomal dominant. hereditary keratoacanthoma multiple keratoacanthoma Editor note: consider adding subtypes familial keratoacanthoma MONDO:0018852 Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function. ACHM Pingelapese blindness Rod monochromacy Rod monochromatism achromatopsia complete or incomplete color blindness monochromatism total color blindness Editor note: we include incomplete forms here, such as BCM achromatopsia MONDO:0018853 Greither disease keratosis extremitatum hereditaria progrediens keratosis palmoplantaris transgrediens et progrediens progressive diffuse PPK progressive diffuse palmoplantar keratoderma transgrediens et progrediens PPK transgrediens et progrediens palmoplantar keratoderma MONDO:0018854 A life-threatening, rapidly progressive thrombotic disorder affecting mainly neonates and children that is characterized by purpuric skin lesions and disseminated intravascular coagulation. PF may progress rapidly to multi-organ failure caused by thrombotic occlusion of small and medium-sized blood vessels. There are two forms of PF that are classified according to triggering mechanisms: acute infectious (the most common form), and idiopathic PF. acquired PF acquired purpura fulminans acquired purpura fulminans MONDO:0018855 An uncommon form of keratosis pilaris in which there are scar-like follicular depressions and loss of hair. keratosis pilaris atrophicans Atrophodermia reticulata Atrophodermia reticulata symmetrica faciei Atrophodermia vermiculata KPA amelogenesis imperfecta, hypoplastic-hypomaturation, X-linked 2 burnett Schwartz Berberian syndrome folliculitis ulerythematosa folliculitis ulerythematosa reticulata honeycomb atrophy keratosis pilaris keratosis pilaris atrophicans facies ulerythema ophryogenes ulerythema ophryogenes with multiple congenital anomalies ulerythema ophryogenesis keratosis pilaris atrophicans https://rarediseases.info.nih.gov/diseases/1042/burnett-schwartz-berberian-syndrome MONDO:0018856 Lichen amyloidosis is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by the development of pruritic, often pigmented, hyperkeratotic papules on trunk and extremities, especially on the shins, and histologically by the deposition of amyloid or amyloid-like proteins in the papillary dermis. amyloid lichen lichen amyloidosus lichen amyloidosis MONDO:0018857 migratory myiasis creeping myiasis https://rarediseases.info.nih.gov/diseases/1609/creeping-myiasis MONDO:0018858 Graham Little-Piccardi-Lassueur syndrome is a variant of lichen planopilaris characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin. Graham Little syndrome Piccardi-Lassueur-Little syndrome Graham-Little-Piccardi-Lassueur syndrome Graham Little-Piccardi-Lassueur syndrome https://rarediseases.info.nih.gov/diseases/3195/graham-little-piccardi-lassueur-syndrome MONDO:0018860 Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case. https://github.com/monarch-initiative/mondo/issues/5588 Basel-Vanagaite-Sirota syndrome microlissencephaly-micromelia syndrome MONDO:0018861 An extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive. AHN-Lerman-Sagie syndrome Zellweger-like syndrome without peroxisomal anomalies MONDO:0018864 Kikuchi-Fujimoto disease (KFD) is a benign and self-limited disorder, characterized by regional cervical lymphadenopathy with tenderness, usually accompanied with mild fever and night sweats. Less frequent symptoms include weight loss, nausea, vomiting, sore throat. Kikuchi disease histiocytic necrotizing lymphadenitis Kikuchi necrotizing lymphadenitis Kikuchi's disease Kikuchi-Fujimoto's disease histiocytic necrotising lymphadenitis nosocomial Kikuchi's disease Kikuchi-Fujimoto disease MONDO:0018865 Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed. keratosis palmoplantaris striata keratosis palmoplantaris striata et areata keratosis palmoplantaris varians of Wachters striate palmoplantar keratoderma MONDO:0018866 Aicardi-Goutieres syndrome (AGS) is an inherited, subacute encephalopathy characterised by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis. Aicardi Goutieres syndrome Cree encephalitis encephalopathy with basal ganglia calcification encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid AGS Aicardi-Goutières syndrome encephalopathy, familial infantile, with calcification of basal ganglia and chronic cerebrospinal fluid lymphocytosis pseudotoxoplasmosis syndrome Aicardi-Goutieres syndrome MONDO:0018868 A rare lysosomal storage disorder characterized by intralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function. MLD Scholz cerebral sclerosis arylsulfatase A deficiency deficiency of cerebroside-sulfatase sulfatide lipoidosis metachromatic leukodystrophy MONDO:0018869 Cobblestone lissencephaly is a rare central nervous system malformation which includes a group of diseases that are characterized by a bumpy (or pebbled) appearance of the cerebral cortex, associated with a thickened cortex, reduction in normal sulcation, ventriculomegaly and reduced, abnormal white matter, as well as brainstem and cerebellum hypoplasia and corpus callosum agenesis. Patients generally present variable degrees of developmental delay, hypotonia and ocular abnomalities, however muscular and ocular involvement may be absent. lissencephaly type 2 cobblestone lissencephaly MONDO:0018870 Idiopathic arterial calcification of infancy is a rare condition characterized by extensive calcification and stenosis of the large and medium sized arteries. generalized arterial calcification of infancy idiopathic infantile arterial calcification idiopathic obliterative arteriopathy infantile arteriosclerosis occlusive infantile arteriopathy IIAC generalized arterial calcification in infancy arterial calcification of infancy MONDO:0018871 An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. (WHO, 2001) AML M4 AMML AMMoL acute M4 myeloid leukemia acute myelomonocytic leukemia acute myelomonocytic leukemia (FAB type M4) AML-M4 acute myeloblastic leukemia type 4 acute myelomonocytic leukemia M4 https://rarediseases.info.nih.gov/diseases/529/acute-myelomonocytic-leukemia MONDO:0018872 Acute megakaryoblastic leukemia (AMKL) is a form of acute myeloid leukemia (AML) that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis. AMKL AML M7 FAB M7 acute M7 myeloid leukemia acute megakaryoblastic leukaemia acute megakaryoblastic leukaemia, FAB M7 acute megakaryoblastic leukemia acute megakaryoblastic leukemia (FAB type M7) acute megakaryoblastic leukemia, FAB M7 acute megakaryocytic leukemia acute megakaryocytic leukemias acute myeloid leukemia M7 leukemia, megakaryocytic, malignant megakaryocytic myelosis thrombocytic leukaemia acute myeloblastic leukemia type 7 megakaryocytic leukemia acute megakaryoblastic leukemia https://rarediseases.info.nih.gov/diseases/524/acute-megakaryoblastic-leukemia MONDO:0018873 Anterior cutaneous nerve entrapment syndrome (ACNES) is a chronic neuropathic pain syndrome of the abdominal wall caused by entrapment of anterior cutaneous branches of 7 to 12th intercostal nerves along the lateral border of the anterior rectus abdominis fascia causing severe pain and tenderness of the involved dermatome. ACNES intercostal nerve syndrome rectus abdominis syndrome anterior cutaneous nerve entrapment syndrome MONDO:0018874 Acute myeloid leukemia (AML) is a group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. AML manifests by fever, pallor, anemia, hemorrhages and recurrent infections. https://github.com/monarch-initiative/mondo/issues/4521 AML AML - acute myeloid leukemia ANLL acute Nonlymphocytic leukemia acute granulocytic leukemia acute myeloblastic leukemia acute myelocytic leukemia acute myelogenous leukemia acute myelogenous leukemias acute myeloid leukemia acute myeloid leukemia (AML) acute myeloid leukemia, somatic acute nonlymphocytic leukemia hematopoeitic - acute Myleogenous leukemia (AML) leukemia, acute myeloid, autosomal dominant, somatic mutation leukemia, acute myeloid, reduced survival in, somatic leukemia, acute myeloid, somatic leukemia, acute myeloid, susceptibility to, autosomal dominant, somatic mutation leukemia, myelocytic, acute myeloid leukemia, acute myeloid leukemia, acute, M4/M4Eo subtype, somatic acute non lymphoblastic leukemia leukemia, acute myelogenous leukemia, acute myeloid leukemia, acute myeloid, susceptibility to acute myeloid leukemia https://rarediseases.info.nih.gov/diseases/12757/acute-myeloid-leukemia https://rarediseases.info.nih.gov/diseases/537/acute-non-lymphoblastic-leukemia MONDO:0018875 Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC). Li-Fraumeni familial cancer susceptibility syndrome Li-Fraumeni familiar cancer susceptibility syndrome Li-Fraumeni syndrome SBLA syndrome sarcoma, breast, leukaemia and adrenal gland syndrome Li Fraumeni syndrome SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland) sarcoma family syndrome of Li and Fraumeni Li-Fraumeni syndrome MONDO:0018876 Mantle cell lymphoma is a rare form of malignant non-Hodgkin lymphoma affecting B lymphocytes in the lymph nodes in a region called the ``mantle zone''. LCM MCL classical mantle cell lymphoma mantle cell lymphoma mantle zone lymphoma lymphoma, mantle cell mantle cell lymphoma MONDO:0018877 retinitis punctata albescens MONDO:0018878 Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space). bo syndrome bor branchiootic dysplasia branchiootic syndrome MONDO:0018879 Lichen planopilaris (LPP) is a rare cutaneous variant of lichen planus which affects hair follicles. It may occur on its own or in association with more common forms of lichen planus, usually classical type and/or oral lichen planus. LPP follicular lichen planus lichen follicularis lichen planus follicularis Kossard disease frontal fibrosing alopecia (subtype) lichen planopilaris classic type lichen planopilaris MONDO:0018881 A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001) https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5268 MDS MDS, unclassifiable MDS-U dysmyelopoietic syndrome hematopoeitic - myelodysplastic syndrome (MDS) myelodysplasia myelodysplastic neoplasm myelodysplastic syndrome myelodysplastic syndrome, somatic myelodysplastic syndrome, unclassifiable myelodysplastic syndrome/neoplasm myelodysplastic syndromes oligoblastic leukemia preleukemia smoldering leukemia myelodysplastic syndrome, susceptibility to myelodysplastic syndrome MONDO:0018882 Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. BehC'et disease) to relatively minor skin disease. systemic vasculitis angiitis vasculitis MONDO:0018883 A lipodystrophy characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/5723 BSCL Beradinelli-Seip syndrome Berardinelli Seip syndrome Berardinelli lipodystrophy syndrome Brunzell syndrome GCL Seip-Bernardinelli syndrome generalized congenital lipodystrophy total lipodystrophy Lawrence-Seip syndrome congenital generalized lipodystrophy lipoatrophic diabetes Berardinelli-Seip congenital lipodystrophy MONDO:0018884 Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984. Roch-Leri syndrome Roch-Leri mesosomatous lipomatosis https://rarediseases.info.nih.gov/diseases/4733/roch-leri-mesosomatous-lipomatosis MONDO:0018885 Orbital leiomyoma is a rare benign smooth muscle tumor arising from the walls of orbital vessels characterized by its slow growth and well encapsulated nature. It is usually located in an extraconal position, commonly manifesting with painless proptosis. The tumor is composed of spindle cells arranged in a fibrous stroma rich in dilated sinusoidal capillaries. The nuclei of tumor cells are oval with blunted ends and there are no mitotic figures. Orbital leiomyoma when excised has excellent prognosis for vision and life. One case of orbital leiomyosarcoma that possibly represents sarcomatous change in an orbital leiomyoma following radiation treatment has been reported. orbital leiomyoma MONDO:0018888 https://github.com/monarch-initiative/mondo/issues/4069 congenital cornea plana MONDO:0018889 myosin storage myopathy hyaline body myopathy MONDO:0018890 Lyell syndrome is an extended form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving more than 30% of the body surface area. Lyell syndrome MONDO:0018891 Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions dysplay collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification Two forms of tumoral calcinosis have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis. familial tumoral calcinosis https://rarediseases.info.nih.gov/diseases/10877/familial-tumoral-calcinosis MONDO:0018892 Wyburn-Mason syndrome or Bonnet-Dechaume-Blanc syndrome is characterized by the association of arteriovenous malformations of the maxilla, retina, optic nerve, thalamus, hypothalamus and cerebral cortex. CAMS2 Cerebrofacial arteriovenous metameric syndrome type 2 bonnet-Dechaume-Blanc syndrome Wyburn Mason syndrome Wyburn Mason's syndrome arteriovenous aneurysm of mid-brain and retina, facial nevi and mental changes bonnet-Decaume-Blanc syndrome Wyburn-Mason syndrome MONDO:0018893 Cobb syndrome is defined by the association of vascular cutaneous (venous or arteriovenous), muscular (arteriovenous), osseous (arteriovenous) and medullary (arteriovenous) lesions at the same metamere or spinal segment. This segmental distribution may involve one or many of the 31 metameres present in humans. Only 16% of the medullary lesions are multiple and have a clearly metameric distribution. Cobb's syndrome SAMS 1-31 cutaneomeningospinal angiomatosis spinal arteriovenous metameric syndrome Cobb syndrome https://rarediseases.info.nih.gov/diseases/11892/cobb-syndrome MONDO:0018894 dHMN dSMA distal spinal muscular atrophy distal hereditary motor neuropathy https://rarediseases.info.nih.gov/diseases/12683/distal-hereditary-motor-neuropathy MONDO:0018895 Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs. Kelly-Paterson syndrome Sideropenic dysphagia Kelly's syndrome Paterson's syndrome Paterson-Brown-Kelly syndrome Paterson-Kelly syndrome Paterson’s syndrome Plummer Vinson syndrome dysphagia sideropenica Plummer-Vinson syndrome https://rarediseases.info.nih.gov/diseases/8259/plummer-vinson-syndrome MONDO:0018896 Thrombotic thrombocytopenic purpura (TTP) is an aggressive and life-threatening form of thrombotic microangiopathy (TMA) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of congenital TTP and acquired TTP. Moschcowitz disease Moschcowitz's syndrome Moschowitz disease TTP thrombotic thrombocytopenic purpura MONDO:0018897 primary cutaneous Ki-1+ T-cell lymphoproliferative disease primary cutaneous CD30+ T-cell lymphoproliferative disease MONDO:0018898 Cutaneous lymphoma is a heterogeneous entity with respect to its clinical and pathological features, evolutive profile, prognosis, molecular aetiology and response to therapy. These specifications have been taken into account in recent classifications, which have placed particular importance on the prognostic implications of these different entities. cutaneous (skin) lymphoma primary cutaneous lymphoma primary skin lymphoma primary cutaneous lymphoma MONDO:0018899 Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities. Benson syndrome PCA biparietal Alzheimer disease posterior cortical atrophy MONDO:0018900 Corticosteroid-sensitive aseptic abscesses syndrome is a well-defined entity within the group of autoinflammatory disorders. aseptic abscesses syndrome aseptic systemic abscesses disseminated aseptic abscesses corticosteroid-sensitive aseptic abscesses corticosteroid-sensitive aseptic abscess syndrome MONDO:0018901 Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events. left ventricular noncompaction (disease) LVNC Lv non-compaction syndrome left ventricular hypertrabeculation left ventricular non-compaction cardiomyopathy left ventricular non-compaction syndrome left ventricular noncompaction (disease) spongy myocardium left ventricular noncompaction https://rarediseases.info.nih.gov/diseases/10985/left-ventricular-noncompaction MONDO:0018902 A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use. HCA adenoma of liver cells adenoma of the liver cells adenoma, hepatocellular, benign hepatocellular adenoma liver cell adenoma LIAD hepatocellular adenoma MONDO:0018903 Infection of the striated muscle of mammals by parasites of the genus sarcocystis. Disease symptoms such as vomiting, diarrhea, muscle weakness, and paralysis are produced by sarcocystin, a toxin produced by the organism. sarcosporidiosis sarcocystosis MONDO:0018904 A rare glomerular disease characterized by a pattern of glomerular injury on kidney biopsy with characteristic light microscopic changes: mesangial hypercellularity, endocapillary proliferation, and thickening of the glomerular basement membrane (GBM). On the basis of immunofluorescence (IF) the disorder is divided into C3 glomerulopathy (C3G) or immunoglobulin-mediated membranoproliferative glomerulonephritis. Through electron microscopy C3G is further divided into Dense deposit disease, with highly electrondense deposits in the glomerular basement membrane, and C3 glomerulonephritis, with mesangial, intramembranous, subendothelial and subepithelial deposits. Secondary causes (autoimmune, infectious, malignancies) are excluded. MPGN Mesangiocapillary glomerulonephritis membranoproliferative glomerulonephritis primary membranoproliferative glomerulonephritis MONDO:0018905 Diffuse large B-cell lymphoma is the most common subtype of non-Hodgkin lymphoma (NHL) in adults characterized by a median age of presentation in the sixth decade of life (but also rarely occurring in adolescents and children) with the initial presentation being single or multiple rapidly growing masses (that may or may not be painful) in nodal or extranodal sites (such as thyroid, skin, breast, gastrointestinal tract, testes, bone, or brain) and that can be accompanied by symptoms of fever, night sweats and weight loss. DLBCL has an aggressive disease course, with the elderly having a poorer prognosis than younger patients, and with relapses being common. DLBCL diffuse large B-cell lymphoma diffuse large B-cell lymphoma https://rarediseases.info.nih.gov/diseases/3178/diffuse-large-B-cell-lymphoma MONDO:0018906 Follicular lymphoma is a form of non-Hodgkin lymphoma characterized by a proliferation of B cells whose nodular structure of follicular architecture is preserved. follicle center lymphoma follicular centre cell lymphoma follicular non-Hodgkin lymphoma follicular non-Hodgkin's lymphoma lymphoma, follicular centre cell lymphoma, follicular, malignant lymphoma, follicular follicular lymphoma https://rarediseases.info.nih.gov/diseases/2356/follicular-lymphoma MONDO:0018907 A benign, partly cystic, epithelial tumor of the sellar region, presumably derived from Rathke pouch epithelium. It affects mainly children and young adults. There are two clinicopathological forms: adamantinomatous craniopharyngioma and papillary craniopharyngioma. The most significant factor associated with recurrence is the extent of surgical resection, with lesions greater than 5 cm in diameter carrying a markedly worse prognosis. (Adapted from WHO) Rathke pouch neoplasm Rathke pouch tumor Rathke's pouch neoplasm Rathke's pouch tumor craniopharyngioma (WHO grade I) craniopharyngioma (morphologic abnormality) craniopharyngioma, benign neoplasm of Rathke's pouch tumor of Rathke's pouch Adamantinomatous tumor Dysodontogenic epithelial tumor craniopharyngeal duct tumor cystoma craniopharyngioma MONDO:0018908 Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage. NHL non-Hodgkin lymphoma non-Hodgkin's lymphoma non-Hodgkin's lymphoma (NHL) non-Hodgkins lymphoma non-Hodgkin lymphoma MONDO:0018910 Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7. OCA non-syndromic oculocutaneous albinism nonsyndromic oculocutaneous albinism albinism, oculocutaneous oculocutaneous albinism https://rarediseases.info.nih.gov/diseases/10958/oculocutaneous-albinism MONDO:0018911 MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes. https://github.com/monarch-initiative/mondo/issues/4985 maturity-onset diabetes of the young (disease) MODY Mason-type diabetes maturity onset diabetes of the young maturity-onset diabetes of the young maturity-onset diabetes of the young (disease) Mason type diabetes maturity-onset diabetes of the young MONDO:0018912 Cushing's syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin. hypercortisolism Cushing syndrome Cushing's syndrome cortisol Excess hyperadrenocorticism pituitary basophilism suprarenogenic syndrome adrenal hyperfunction resulting from pituitary ACTH excess ectopic adrenocorticotropic hormone syndrome nodular primary adrenocortical dysplasia Editor mote: DOID merged this into primary hyperaldosteronism but we believe this to be wrong. Update: fixed https://github.com/DiseaseOntology/HumanDiseaseOntology/issues/525; consider adding subclass for inherited form Cushing syndrome MONDO:0018913 Malakoplakia is a chronic multisystem granulomatous inflammatory disease characterized by the presence of single or multiple soft plaques on various organs of the body. malacoplakia malakoplakia https://rarediseases.info.nih.gov/diseases/6960/malakoplakia MONDO:0018914 Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies. hereditary hypotrichosis simplex hypotrichosis simplex MONDO:0018916 Anorectal malformations (ARM) comprise a wide spectrum of malformations involving the distal anus and rectum as well as the urinary and genital tracts, which can affect boys and girls. nonsyndromic anorectal malformation isolated anorectal malformation MONDO:0018918 Carcinoma of the gallbladder (GBC) is the most common and aggressive form of biliary tract cancer (BTC) usually arising in the fundus of the gallbladder, rapidly metastasizing to lymph nodes and distant sites. carcinoma of gallbladder and EBT carcinoma of gallbladder and extrahepatic biliary tract MONDO:0018919 McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), cafe-au-lait skin spots, and precocious puberty (PP). https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 Albright's disease MAS McCune Albright syndrome gonadotropin-independent female-limited sexual precocity mccune-albright syndrome, somatic, mosaic PFD POFD polyostotic fibrous dysplasia McCune-Albright syndrome MONDO:0018920 Peripartum cardiomyopathy (PPCM) is an idiopathic, potentially fatal form of dilated cardiomyopathy that develops during the final month of pregnancy or within five months after delivery. antepartum peripartum cardiomyopathy peripartum cardiomyopathy postpartum cardiomyopathy postpartum peripartum cardiomyopathy Meadows' syndrome peripartum cardiomyopathy MONDO:0018921 A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia. Meckel-Gruber syndrome Meckel syndrome MONDO:0018922 Cold agglutinin disease is a type of autoimmune hemolytic anemia defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30B0C). CAD CAS chronic cold agglutinin disease cold agglutinin syndrome anemia, hemolytic, cold antibody cold antibody disease cold antibody hemolytic anemia cold agglutinin disease MONDO:0018923 22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency. https://github.com/monarch-initiative/mondo/issues/3664 22q11DS Cayler cardiofacial syndrome Sedlackova syndrome Shprintzen syndrome Takao syndrome catch 22 conotruncal anomaly face syndrome microdeletion 22q11.2 monosomy 22q11 DiGeorge sequence DiGeorge syndrome VCFS velocardiofacial syndrome 22q11.2 deletion syndrome MONDO:0018924 A very rare X-linked inherited form of syndromic microphthalmia characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome. Lenz microphthalmia Lenz microphthamia syndrome Lenz dysplasia MAA (formerly) MCOPS1 microphthalmia Lenz type microphthalmia or anophthalmos with associated anomalies (formerly) microphthalmia syndromic 1 syndromic microphthalmia type 1 Editors note: TODO check microphthalmia, Lenz type MONDO:0018925 Hemiplegic migraine (HM) is a rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. Hemiplegic migraine has two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM). familial or sporadic hemiplegic migraine hemiplegic migraine familial or sporadic hemiplegic migraine https://rarediseases.info.nih.gov/diseases/10768/hemiplegic-migraine MONDO:0018926 Prion diseases are a group of rare transmissible disorders characterized by progressive debilitating neurological manifestations due to spongiform changes with an invariably fatal course. The disorders all involve accumulation of an abnormal prion protein in the central nervous system with no specific immunological response. Sporadic Creutzfeldt-Jakob disease (CJD) is the most frequent form accounting for about 85% of prion disease cases. The other forms of prion disease are genetic (5-15%) and include inherited CJD, fatal familial insomnia (FFI), and Familial Alzheimer-like prion disease. Acquired forms (< 5%) include iatrogenic CJD and variant CJD (vCDJ). TSE transmissible spongiform encephalopathy human prion disease MONDO:0018927 SUNCT syndrome (Short-lasting Unilateral Neuralgiform headache attacks with Conjunctival injection and Tearing) is a primary headache disorder characterized by unilateral trigeminal pain that occurs in association with ipsilateral cranial autonomic symptoms (conjunctival injection and tearing). SUNCT headache short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing short-lasting, unilateral, neuralgiform headache attacks with conjunctival injection and tearing SUNCT syndrome MONDO:0018929 condensing osteitis of the clavicle condensing osteitis of the medial clavicle osteitis condensans of the clavicle medial condensing osteitis of the clavicle MONDO:0018930 Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit. 21q deletion syndrome 21q- syndrome monosomy type 21 partial 21q monosomy 21q deletion 21q monosomy chromosome 21q deletion deletion 21q monosomy 21q partial monosomy 21q monosomy 21 MONDO:0018931 Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients. https://github.com/monarch-initiative/mondo/issues/4948 ML 3 ML3 mucolipidosis 3 mucolipidosis III ML 3 alpha/beta ML III alpha/beta MLIII mucolipidosis type 3 alpha/beta mucolipidosis type III pseudo-Hurler polydystrophy ML 3 A ML 3 Alpha/Beta mucolipidosis 3 Alpha/Beta mucolipidosis 3 Alpha/Beta, atypical mucolipidosis 3A mucolipidosis III ALPHA/BETA mucolipidosis type 3A mucolipidosis type III alpha/beta mucolipidosis type III, alpha/beta https://rarediseases.info.nih.gov/diseases/3806/mucolipidosis-iii-alphabeta MONDO:0018932 Cirrhotic cardiomyopathy is the term used to describe a constellation of features indicative of abnormal heart structure and function in patients with cirrhosis. These include systolic and diastolic dysfunction, electrophysiological changes, and macroscopic and microscopic structural changes. cirrhotic cardiomyopathy MONDO:0018933 Mazabraud syndrome is a rare primary bone dysplasia characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia is usually multifocal, typically occuring in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported. Myxoma with fibrous dysplasia Mazabraud syndrome MONDO:0018935 Hairy cell leukemia (HCL) is a rare type of leukemia in which abnormal B-lymphocytes are present in the bone marrow, spleen and peripheral blood. It is a slowly progressive chronic lymphocytic leukemia (CLL). The name comes from the abnormally shaped lymphocytes with hair-like projections. HCL HCL-C hairy cell leukemia leukemic reticuloendotheliosis classic hairy cell leukemia hairy cell leukemia MONDO:0018936 A rare benign bone-forming neoplasm usually arising from the spine. It is a well-circumscribed lytic tumor that varies in size. The tumor is composed of woven bone trabeculae and shares similar histologic characteristics with the osteoid osteoma. Surgical curettage is the treatment of choice. The prognosis is excellent. osteoblastoma (disease) giant osteoid osteoma ossifying giant cell tumor osteoblastoma osteoblastoma (disease) osteoblastoma, benign osteoblastoma MONDO:0018937 Mucopolysaccharidosis type III (MPS III) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses and characterised by severe and rapid intellectual deterioration. MPS3 MPSIII N-sulphoglucosamine sulphohydrolase deficiency Sanfilippo disease Sanfilippo syndrome Sanfilippo's syndrome heparan sulfate sulfatase deficiency mucopolysaccharidosis type III mucopolysaccharidosis, MPS-III MPS IIIA - Sanfilippo syndrome A MPS IIIB - Sanfilippo syndrome B MPS IIIC - Sanfilippo syndrome C MPS IIID - Sanfilippo syndrome D N-acetyl-alpha-D-glucosaminidase deficiency NAGLU deficiency Sanfilippo syndrome A Sanfilippo syndrome B mucopolysaccharidosis type IIIA mucopolysaccharidosis type IIIB mucopolysaccharidosis, MPS-III-B Mucopoly-saccharidosis type 3 mucopolysaccharidosis III mucopolysaccharidosis type 3 MONDO:0018938 Mucopolysaccharidosis type IV (MPS IV) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterised by spondylo-epiphyso-metaphyseal dysplasia. It exists in two forms, A and B. MPS4 MPSIV Morquio disease Morquio syndrome deficiency of chondroitinsulphatase mucopolysaccharidosis IV mucopolysaccharidosis type 4 mucopolysaccharidosis type IV mucopolysaccharidosis, MPS-IV MPS IV - Morquio syndrome A MPS IV - Morquio syndrome B Morquio A disease Morquio syndrome A Osteochondrodystrophy chondroosteodystrophy deficiency of N-acetylgalactosamine-6-sulphatase galactosamine-6-sulfatase deficiency mucopolysaccharidosis type IVA mucopolysaccharidosis type IVB mucopolysaccharidosis, MPS-IV-A mucopolysaccharidosis type 4 MONDO:0018939 A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by early onset muscular dystrophy, severe muscular hypotonia, severe mental retardation and typical brain and eye malformations, including pachygyria, polymicrogyria, agyria, brainstem and cerebellar structural anomalies, severe myopia, glaucoma, optic nerve and retinal hypoplasia. Patients may present with seizures, macrocephaly or microcephaly, microphthalmia, and congenital contractures. Depending on the severity, limited motor function is acquired. Less severe cases have been reported. MEB syndrome Santavuori congenital muscular dystrophy muscle-eye-brain syndrome muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 MEB muscle eye brain disease muscle-eye-brain disease https://rarediseases.info.nih.gov/diseases/156/muscle-eye-brain-disease MONDO:0018940 Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness. CMS myasthenic syndrome, congenital congenital MG congenital myasthenia erb-Goldflam syndrome familial limb-girdle myasthenia myasthenia gravis congenital myasthenia gravis pseudoparalytica congenital myasthenic syndrome https://rarediseases.info.nih.gov/diseases/11902/congenital-myasthenic-syndrome MONDO:0018941 Furuncular myiasis in humans is caused by two species: the Cayor worm (larvae of the African tumbu fly Cordylobia anthropophaga) and the larvae of the human botfly (Dermatobia hominis). furunculoid myiasis furunculous myiasis furuncular myiasis MONDO:0018942 MMF Macrophagic myofasciitis, childhood macrophagic myofasciitis https://rarediseases.info.nih.gov/diseases/176/macrophagic-myofasciitis MONDO:0018943 Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients. myofibrillar myopathy (disease) myofibrillar myopathy myofibrillar myopathy (disease) Alpha Beta crystallinopathy (type) Desminopathy (type) Protein surplus myopathy (former name) Zaspopathy (type) desmin related myopathy (former name) desmin storage myopathy (former name) filaminopathy (type) myofibrillar myopathies myotilinopathy (type) myofibrillar myopathy MONDO:0018944 A diverse group of pregnancy-related tumors characterized by excessive proliferation of trophoblasts. Representative examples include hydatidiform mole, gestational choriocarcinoma, and placental site trophoblastic tumor. gestational trophoblastic disease GTN GTT gestational trophoblastic neoplasia gestational trophoblastic tumor hydatidiform mole molar pregnancy gestational trophoblastic neoplasm MONDO:0018945 A form of neuroacanthocytosis and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens. https://github.com/monarch-initiative/mondo/issues/4521 MLS McLeod syndrome X-linked McLeod syndrome mcleod syndrome with or without chronic granulomatous disease MCLDS McLeod phenotype McLeod syndrome with chronic granulomatous disease neuroacanthocytosis, McLeod type McLeod neuroacanthocytosis syndrome https://rarediseases.info.nih.gov/diseases/10731/mcleod-neuroacanthocytosis-syndrome MONDO:0018946 Rhombencephalosynapsis (RS) is a rare malformation of the cerebellum characterised by the association of agenesis (total or partial) of the vermis and fusion of the cerebellar hemispheres. rhombencephalosynapsis MONDO:0018947 Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy. CNM centronuclear myopathy myopathy, centronuclear myotubular myopathy myopathy, myotubular centronuclear myopathy https://rarediseases.info.nih.gov/diseases/101/centronuclear-myopathy MONDO:0018948 A hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy. MmD multicore disease multicore myopathy multiminicore disease multiminicore myopathy MONDO:0018949 Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands. distal muscular dystrophy distal myopathy Miyoshi muscular dystrophy distal myopathy MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults. https://github.com/monarch-initiative/mondo/issues/4985 3-MCC deficiency 3-methylcrotonyl-CoA carboxylase deficiency 3-methylcrotonylglycinuria 3MCC deficiency BMCC deficiency MCC deficiency MCCD Methylcrotonyl-CoA carboxylase deficiency methylcrotonylglycinuria 3-methylcrotonyl-CoA carboxylase deficiency MONDO:0018951 Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction. MATR3-related distal myopathy VCPDM MPD2 distal myopathy 2 vocal cord and pharyngeal distal myopathy distal myopathy with vocal cord weakness MONDO:0018952 Argyria is a rare dermatosis, which can be either localized or systemic, that occurs after prolonged contact and absorption of silver containing compounds over a period of years and that is characterized by irreversible blue-gray to gray-black staining of skin, fingernails and/or mucous membranes, most evident on sun exposed areas of the skin. Silver exposure is usually occupational but may also occur through dental amalgams, the ingestion of colloidal silver, acupuncture needles, orthopedic implants and topical medications (such as silver sulfadiazine). Silver staining argyria MONDO:0018953 Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies. Caitlin marks catlin marks enlarged parietal foramina fenestrae parietales symmetricae foramina parietalia permagna hereditary cranium bifidum parietal foramina symmetric parietal foramina parietal foramina MONDO:0018954 Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum. Loeys-Dietz syndrome aortic aneurysm syndrome due to TGF-beta receptors anomalies aortic aneurysm syndrome, Loeys-Dietz type Loeys-Dietz syndrome MONDO:0018955 Recurrent respiratory papillomatosis is a rare respiratory disease characterized by the development of exophytic papillomas, affecting the mucosa of the upper aero-digestive tract (with a strong predilection for the larynx), caused by an infection with human papilloma virus. Symptoms at presentation may include hoarseness, chronic cough, dyspnea, recurrent upper respiratory infections, pneumonia, dysphagia, stridor, and/or failure to thrive. RRP recurrent respiratory papillomatosis AORRP (type) JORRP (type) adult-onset recurrent respiratory papillomatosis (type) juvenile laryngeal papilloma juvenile-onset recurrent respiratory papillomatosis (type) laryngeal papilloma, recurrent respiratory papillomatosis, recurrent recurrent respiratory papillomatosis https://rarediseases.info.nih.gov/diseases/111/recurrent-respiratory-papillomatosis MONDO:0018956 Idiopathic bronchiectasis (IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies). idiopathic bronchiectasis MONDO:0018957 Pudendal neuralgia (PN) is a chronic neuropathic pain, aggravated by sitting and for which no organic cause can be found by imaging studies. It is often associated with pelvic dysfunction. Alcock syndrome Pudendalgia neuralgia of pudendal nerve pudendal algia pudendal nerve entrapment syndrome pudendal nerve neuralgia pudendal neuralgia by pudendal nerve entrapment pudendal neuralgia https://rarediseases.info.nih.gov/diseases/10713/pudendal-neuralgia MONDO:0018958 Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy. NEM NM nemaline body disease nemaline myopathy nemaline rod myopathy rod myopathy Rod body disease Rod-body myopathy congenital rod disease nemaline rod disease nemaline myopathy MONDO:0018959 Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia. https://github.com/monarch-initiative/mondo/issues/4521 K+-aggravated myotonia K-aggravated myotonia PAM Potassium aggravated myotonia myotonia congenita, atypical, acetazolamide-responsive Laryngospasm, Severe Neonatal Episodic MYOTONIA, POTASSIUM-AGGRAVATED Myotonia Congenita, Acetazolamide-Responsive Myotonia Congenita, Atypical Myotonia Fluctuans Myotonia Permanens Sodium Channel Muscle Disease potassium-aggravated myotonia MONDO:0018960 An idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing. congenital primary megalo-ureter CGM congenital giant megaureter congenital megalo-ureter congenital primary megaureter https://rarediseases.info.nih.gov/diseases/1492/congenital-megalo-ureter https://rarediseases.info.nih.gov/diseases/219/congenital-giant-megaureter MONDO:0018961 Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family. hereditary melanoma (disease) familial melanoma MONDO:0018962 universal mesentery common mesentery MONDO:0018963 Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of abnormal hemoglobin M. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present. autosomal recessive methemoglobinemia congenital methemoglobinemia hereditary methemoglobinemia hereditary methemoglobinemia MONDO:0018964 Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1). functional methionine synthase deficiency homocystinuria without methylmalonic aciduria methylcobalamin deficiency homocystinuria without methylmalonic aciduria MONDO:0018965 A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities. https://github.com/monarch-initiative/mondo/issues/3367 hereditary nephritis Alport deafness-nephropathy Alport syndrome Alport's syndrome Alport syndrome MONDO:0018967 Editor note: classified as both isolated and syndromic in ORDO short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia MONDO:0018968 Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system. iniencephaly https://rarediseases.info.nih.gov/diseases/10506/iniencephaly MONDO:0018969 Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system. craniorachischisis (disease) cranial rachischisis craniorachischisis craniorachischisis (disease) craniorachischisis MONDO:0018971 Isolated oxycephaly is a late-appearing form of nonsyndromic craniosynostosis characterized by premature fusion of both the coronal and sagittal sutures, and, in some cases, of the lambdoid sutures. Compensatory growth in the region of the anterior fontanel results in a pointed or cone-shaped skull. acrocephaly hypsicephaly hypsocephaly pyrgocephaly turricephaly isolated oxycephaly MONDO:0018973 patterned dystrophy of the retinal pigment epithelium MONDO:0018974 Pemphigus is a group of chronic autoimmune skin diseases characterised by blisters formation on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, of which paraneoplastic pemphigus is extremely rare. paraneoplastic pemphigus MONDO:0018975 A clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas. https://github.com/monarch-initiative/mondo/issues/4948 neurofibromatosis NF1 Nf1-Microdeletion syndrome neurofibromatosis 1 neurofibromatosis type 1 neurofibromatosis, type 1 peripheral neurofibromatosis Recklinghausen's disease Von Recklinghausen disease neurofibromatosis type 1 microdeletion syndrome neurofibromatosis, peripheral type neurofibromatosis, type I type 1 neurofibromatosis von Reklinghausen disease neurofibromatosis type 1 MONDO:0018976 The combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip/palate, omphalocele and congenital diaphragmatic hernia. These anomalies are associated at a higher frequency than would be expected with random combination rates. Midline development field defects schisis association https://rarediseases.info.nih.gov/diseases/246/schisis-association MONDO:0018977 Polyneuropathy associated with IgM monoclonal gammapathy (MG) with anti-MAG (myelin-associated-glycoprotein) activity is a demyelinating polyneuropathy characterized clinically by sensory ataxia, tremor, paresthesia, and impaired gait. anti-MAG neuropathy neuropathy associated with monoclonal IgM antibodies to myelin-associated glycoprotein polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG MONDO:0018978 fibrosing mediastinitis mediastinal fibrosis sclerosing mediastinitis idiopathic mediastinal fibrosis IgG4-related mediastinitis MONDO:0018979 Multifocal motor neuropathy (MMN) is a rare acquired immune-mediatedneuropathy characterized clinically by a purely motor deficit with conduction block and asymmetric multifocal weakness, fasciculations, and cramping. MMN MMNCB multifocal motor neuropathy with conduction block multifocal motor neuropathy https://rarediseases.info.nih.gov/diseases/11011/multifocal-motor-neuropathy MONDO:0018980 Acrofacial dysostosis, Kennedy-Teebi type was reported as a new type of acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beakednose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype. Kennedy-Teebi syndrome acrofacial dysostosis, Kennedy-Teebi type MONDO:0018981 A rare neonatal epilepsy syndrome characterized by seizures without specific underlying etiology, occurring during the first days of life in infants with an otherwise normal neurological state and no family history of neonatal convulsions. The most commonly partial and clonic seizures usually last for one to three minutes. Repeated seizures may lead to status epilepticus lasting up to 20 hours. Overall, remission rates are high and neurological outcome is favorable. BINS benign nonfamilial neonatal seizures benign idiopathic neonatal seizures MONDO:0018982 NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment. NPC Niemann-Pick disease type C MONDO:0018983 Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredicatable course with spontaneous remission occurring in some and recurrence of attacks in others. Tolosa Hunt syndrome Tolosa-Hunt syndrome painful ophthalmoplegia THS nonspecific inflammation of the cavernous sinus or superior orbital fissure Tolosa-Hunt syndrome https://rarediseases.info.nih.gov/diseases/7777/tolosa-hunt-syndrome MONDO:0018984 An infection that is caused by Bartonella bacilliformis, which is transmitted to humans from infected sandflies. The acute phase (Oroya fever) is characterized by fever, headache, myalgia, enlargement of the lymph nodes, and anemia. The chronic phase (verruga peruana/Peruvian wart) is characterized by benign, eruptive lesions that are bleeding and pruritic, arthralgia, and malaise. Bartonella bacilliformis caused disease or disorder Bartonella bacilliformis disease or disorder Bartonella bacilliformis infectious disease Carrion disease Carrion's disease Carrión disease Oroya fever bartonellosis due to Bartonella bacilliformis infection Oroya fever MONDO:0018987 A rare, benign, inflammatory breast disease occurring in premenopausal women shortly after a recent pregnancy. The origin is unknown but it is commonly mistaken for malignancy and sometimes associated with breast feeding and the use of oral contraceptives. idiopathic granulomatous mastitis granulomatous lobular mastitis idiopathic granulomatous lobular mastitis granulomatous mastitis MONDO:0018988 Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler syndrome, Cogan-Reese syndrome and essential iris atrophy, affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications ICE syndrome iridocorneal endothelial syndrome MONDO:0018989 Recurrent acute pancreatitis (RAP) is characterized by repeated attacks of acute pancreatitis (AP), which is defined as an acute inflammatory process of the pancreas with variable involvement of other regional tissues or remote organ systems. recurrent acute pancreatitis MONDO:0018991 Hepatoportal sclerosis (HPS) is a rare disorder characterized by sclerosis of the intrahepatic portal veins, non-cirrhotic portal hypertension, asymptomatic splenomegaly and recurrent variceal bleeding. obliterative portal venopathy hepatoportal sclerosis MONDO:0018992 Riedel thyroiditis is a fibroinflammatory disorder of the thyroid gland, occuring more frequently in females, characterized a large, hard thyroid mass, and presenting with pressure symptoms (breathing difficulB,ties and dysphagia) or voice hoarseness and aphonia (impingement of recurrent laryngeal nerve). It can often be associated with extracervical fibroinflammatory disorders such as retroperitoneal fibrosis, primary scleroisng cholangitis and autoimmune diseases such as Hashimoto struma, Addison disease, and Biermer disease. Riedel disease Riedel fibrosing thyroiditis Riedel thyroiditis Riedel's fibrosing thyroiditis IgG4-related thyroid disease MONDO:0018993 A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. CMT2 autosomal dominant axonal Charcot-Marie-Tooth disease hereditary motor and sensory neuropathy Guadalajara neuronal type hereditary motor and sensory neuropathy Okinawa type hereditary motor and sensory neuropathy type 2 Charcot-Marie-Tooth type 2 autosomal dominant Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease type 2 MONDO:0018994 A subtype of Charcot-Marie-Tooth disease with genetic defects on the X chromosome. CMTX COWCK X-linked hereditary motor and sensory neuropathy X-linked Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type X MONDO:0018995 Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases. AR-CMT1 CMT4 autosomal recessive demyelinating Charcot-Marie-Tooth Charcot-Marie-Tooth disease type 4 MONDO:0018996 A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level. AOA2 SCAN 2 SCAN2 ataxia with oculomotor apraxia type 2 ataxia-ocular apraxia 2 ataxia-oculomotor apraxia 2 ataxia-oculomotor apraxia type 2 spinocerebellar ataxia with axonal neuropathy type 2 spinocerebellar ataxia, autosomal recessive 1 spinocerebellar ataxia, autosomal recessive type 1 SCAR1 autosomal recessive spinocerebellar ataxia-1 See https://github.com/Orphanet/ORDO/issues/11 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MONDO:0018997 Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects. Noonan syndrome Noonan's syndrome Turner's phenotype, karyotype normal Noonan-Ehmke syndrome Ullrich-Noonan syndrome pseudo-Ullrich-Turner syndrome Noonan syndrome MONDO:0018998 Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life. https://github.com/monarch-initiative/mondo/issues/4069 LCA Leber congenital amaurosis Leber's amaurosis Leber's congenital amaurosis Leber's disease amaurosis congenita of Leber Leber's congenital tapetoretinal degeneration Leber's congenital tapetoretinal dysplasia congenital absence of the rods and cones congenital retinal blindness Leber congenital amaurosis MONDO:0018999 LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol. lecithin-cholesterol acyltransferase deficiency LCAT deficiency MONDO:0019000 Perineural (or Tarlov) cysts are cerebrospinal fluid-filled nerve root cysts most commonly found at the sacral level of the spine, although they can be found in any section of the spine, which can cause progressively painful radiculopathy. Tarlov cyst Tarlov cysts perineural cysts sacral Tarlov cysts sacral neural cysts sacral perineural cysts perineural cyst MONDO:0019002 Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure. LDD dysplastic cerebellar gangliocytoma dysplastic gangliocytoma of cerebellum dysplastic gangliocytoma of the cerebellum Lhermitte-Duclos disease MONDO:0019003 Multiple endocrine neoplasia type 2 (MEN2) is a multiple endocrine neoplasia, a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC), in one variant, primary hyperparathyroidism (PHPT). There are three forms: MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC). MEN2 multiple endocrine neoplasia type 2 multiple endocrine neoplasia type 2 https://rarediseases.info.nih.gov/diseases/3830/multiple-endocrine-neoplasia-type-2 MONDO:0019004 An embryonal pediatric tumor of the kidney which may also be seen rarely in adults. The peak incidence of Wilms tumor is between the second and fifth year of life. Microscopically, it is composed of a mixture of cellular elements (blastemal, stromal, and epithelial). The most common sites of metastasis include the regional lymph nodes, lungs, and liver. https://github.com/monarch-initiative/mondo/issues/5537 Wilms tumor Wilms' tumor Wilms tumor of the kidney Wilms' tumor of the kidney kidney Wilms tumor nephroblastoma nephroblastoma, malignant renal Wilms tumor renal Wilms' tumor renal embryonic tumor adult nephroblastoma childhood renal Wilms tumor childhood renal Wilms' cancer embryonal nephroma nonanaplastic renal Wilm's tumor kidney Wilms tumor MONDO:0019005 Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure. nephronophthisis (disease) medullary cystic disease medullary cystic kidney nephronophthisis nephronophthisis (disease) nephronophthisis MONDO:0019006 Familial idiopathic steroid-resistant nephrotic syndrome is characterized by a nephrotic syndrome with often early onset. familial idiopathic nephrotic syndrome familial idiopathic steroid-resistant nephrotic syndrome MONDO:0019007 vaginal atresia MONDO:0019008 Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC). Bric Summerskill-Walshe-Tygstrup syndrome cholestasis, benign recurrent intrahepatic benign recurrent intrahepatic cholestasis https://rarediseases.info.nih.gov/diseases/12185/benign-recurrent-intrahepatic-cholestasis MONDO:0019009 Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (e.g. abnormal white and/or grey matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated. epilepsy due to FCD isolated focal cortical dysplasia MONDO:0019010 Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism. PHHI chi persistent hyperinsulinemic hypoglycemia of infancy congenital hyperinsulinism hyperinsulinemic hypoglycemia familial hyperinsulinism congenital hyperinsulinism familial with pancreatic nesidioblastosis hypoglycemia hyperinsulinemic of infancy congenital isolated hyperinsulinism MONDO:0019011 Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity. CMT1 Charcot-Marie-Tooth neuropathy type 1 autosomal dominant demyelinating Charcot-Marie-Tooth disease hereditary motor and sensory neuropathy type 1 Charcot-Marie-Tooth type 1 Charcot-Marie-Tooth disease type 1 MONDO:0019012 An extremely rare autosomal recessive syndrome characterized by premature closure of cranial sutures leading to cone-shaped head, fusion of the digits, and the presence of more digits than normal. It may be associated with heart defects, single horseshoe-shaped kidney, short stature, undescended testes, and mild mental retardation. ACPS2 Carpenter 's syndrome Carpenter syndrome acrocephalopolysyndactyly type 2 acrocephalopolysyndactyly type II type II Acrocephalopolysyndactyly acrocephalosyndactyly, type II Carpenter syndrome MONDO:0019013 Angioedema is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain. angioneurotic edema bradykinine-induced angioedema non histamine-induced angioedema non-histaminic angioedema MONDO:0019015 Omphalocele is an embryopathy classified in the group of abdominal celosomias and is characterized by a large hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac. omphalocele (disease) eventration congenital omphalocele exomphalos omphalocele omphalocele (disease) omphalocoele omphalocele MONDO:0019016 maternally-inherited CPEO maternally-inherited chronic progressive external ophthalmoplegia maternally-inherited progressive external ophthalmoplegia MONDO:0019017 A syndrome is characterised by bilateral shortening of the fifth fingers and fifth metacarpals. It has been described in several members of one family. Some members of the family also had spherocytosis and insulin resistance. Transmission is autosomal dominant. https://github.com/monarch-initiative/mondo/issues/5723 short fifth metacarpals-insulin resistance syndrome MONDO:0019018 Takotsubo cardiomyopathy (TC) is a recently described acute cardiac syndrome that mimics acute myocardial infarction and is characterized by ischemic chest symptoms, an elevated ST segment on electrocardiogram, and elevated levels of cardiac disease markers. Tako-Tsubo syndrome Takotsubo cardiomyopathy Takotsubo syndrome ampulla cardiomyopathy apical ballooning syndrome ballooning cardiomyopathy broken heart syndrome stress cardiomyopathy transient left ventricular apical ballooning syndrome ASC Tako tsubo syndrome acute stress cardiomyopathy broken-heart syndrome left ventricular transient apical ballooning stress-induced cardiomyopathy transient antero-apical dyskinesia Tako-tsubo cardiomyopathy MONDO:0019019 Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity. Lobstein disease Lobstein's syndrome OI Osteopsathyrosis Porak and Durante disease Vrolik's disease brittle bone disease glass bone disease Fragilitas ossium Vrolik disease osteogenesis imperfecta https://rarediseases.info.nih.gov/diseases/1017/osteogenesis-imperfecta MONDO:0019020 PANDAS is an acronym for Pediatric Autoimmune Neuropsychiatric Disorders Associated with a group A beta-hemolytic Streptococcal infection and applied to a subgroup of children with obsessive-compulsive disorder (OCD) and/or tic disorders. pediatric autoimmune disorders associated with Streptococcus infections pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections pediatric autoimmune neuropsychiatric disorder associated with Streptococcus pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections PANDAS MONDO:0019022 Sensorineural hearing loss-early graying-essential tremor syndrome is characterised by the combination of sensorineural hearing loss, early greying of scalp hair and adult onset essential tremor. sensorineural hearing loss-early graying-essential tremor syndrome MONDO:0019023 Cutaneous mastocytosis is a term referring to a group of diseases characterized by abnormal accumulation and proliferation of skin mastocytes. In some cases (most commonly in adults), cutaneous mastocytosis may occur in association with mast cell infiltration of various extracutaneous organs, in which case the disorder is referred to as systemic mastocytosis. https://github.com/monarch-initiative/mondo/issues/4521 CM cutaneous (skin) mastocytosis cutaneous mastocytosis cutaneous mastocytosis (disease) mastocytosis, cutaneous mastocytosis, systemic, somatic CMCD cutaneous mastocytosis MONDO:0019024 A rare entity characterized by localized but destructive growth of a tumor consisting of highly atypical, immature mast cells.(WHO, 2001) MCS mast cell sarcoma mast-cell sarcoma sarcoma of mast cell MCSL mast cell sarcoma MONDO:0019025 A localized tumor consisting of mature mast cells. (WHO, 2001) -- 2003 extracutaneous mastocytoma extracutaneous mastocytoma MONDO:0019026 An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration. OPTB autosomal recessive malignant osteopetrosis autosomal recessive osteopetrosis autosomal recessive osteopetrosis (disease) infantile malignant osteopetrosis osteopetrosis (disease), autosomal recessive malignant osteopetrosis autosomal recessive osteopetrosis MONDO:0019027 A form of frontootopalatodigital syndrome, characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders. oto-palatal-digital syndrome oto-palato-digital syndrome type 2 (Andre syndrome) otopalatodigital syndrome MONDO:0019028 A parasitic disease caused by the protozoa, Entamoeba histolytica, mainly occurring in tropical regions after the ingestion of an amoebic cyst, and resulting in clinical manifestations that may range from an asymptomatic state to amoebic colitis (violent abdominal pain, a painful contracted feeling around the anal sphincter, blood and mucus in the stools but without the presence of fever), or amoebic liver abscesses (fever, chills, abdominal pain, weight loss, hepatomegaly) that can be fatal if not immediately treated. Extraintestinal involvement elsewhere (i.e. thoracic, hepatic) is extremely rare. amoebiasis due to Entamoeba histolytica MONDO:0019029 Segmental odontomaxillary dysplasia (SOD) is a rare disorder characterized by unilateral enlargement of the right or left maxillary alveolar bone and gingiva in the region from the back of the canines to the maxillary tuberosity. In the enlarged region, dental abnormalities such as missing teeth, abnormal spacing and delayed eruption occur. SOD segmental odontomaxillary dysplasia MONDO:0019031 Thrombocytopenia with congenital dyserythropoietic anemia (CDA) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia. X-linked congenital dyserythropoietic anemia with thrombocytopenia XDAT congenital dyserythropoietic anemia with thombocytopenia thrombocytopenia with congenital dyserythropoietic anemia MONDO:0019032 https://github.com/monarch-initiative/mondo/issues/5588 MRGH X-linked intellectual disability with isolated growth hormone deficiency MONDO:0019033 Cutis verticis gyrata (CVG) is a progressive cutaneous disorder predominantly affecting males and characterized by hypertrophy and thickening of the skin of the scalp forming convoluted furrows with deep, tender, and cerebriform cutaneous folds. Hair is usually normal in the furrows and sparse on the folds. CG can be isolated (essential CVG) or associated with other abnormalities such as intellectual deficit, epilepsy, cataract, blindness, and deafness (non essential CVG). cutis verticis gyrata primary cutis verticis gyrata https://rarediseases.info.nih.gov/diseases/1643/cutis-verticis-gyrata MONDO:0019034 Accessory pancreas is an asymptomatic embryopathy characterized by the presence of pancreatic tissue in other sites of the body such as the splenic pedicle, gonadic pedicles, intestinal mesentery, duodenum wall, upper jejunum, or, more rarely, the gastric wall, ileum, gallbladder or spleen. pancreas accessorium accessory pancreas https://rarediseases.info.nih.gov/diseases/454/accessory-pancreas MONDO:0019035 Pancreatoblastoma is a rare malignant epithelial pancreatic neoplasm, most often found in children, which usually presents with the non-specific symptoms of a palpable mass, vomiting abdominal pain, jaundice, and weight loss/failure to thrive, and is characterized histologically by multiple lines of differentiation (acinar, ductal, mesenchymal, neuroendocrine) and the presence of squamoid nests. pancreatoblastoma (morphologic abnormality) PB pancreatoblastoma https://rarediseases.info.nih.gov/diseases/4210/pancreatoblastoma MONDO:0019036 Free-living amebae belonging to the genera Acanthamoeba, Balamuthia, Naegleria and Sappinia are important causes of disease in humans and animals. Naegleria fowleri produces an acute, and usually lethal, central nervous system (CNS) disease called primary amebic meningoencephalitis (PAM). Acanthamoeba spp. and Balamuthia mandrillaris are opportunistic free-living amebae capable of causing granulomatous amebic encephalitis (GAE) in individuals with compromised immune systems. Sappinia pedata has been implicated in a case of amebic encephalitis. Naegleria fowleri and Acanthamoeba spp., are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units. amoebiasis due to free-living amoebae https://rarediseases.info.nih.gov/diseases/12650/amoebiasis-due-to-free-living-amoebae MONDO:0019037 A rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. PSP syndrome progressive supranuclear ophthalmoplegia Steele-Richardson-Olszewski syndrome familial progressive supranuclear palsy (type) supranuclear palsy, progressive progressive supranuclear palsy MONDO:0019040 Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429) chromosomal disease chromosomal disorder chromosomal disorders chromosome disorder disorder, chromosomal disorder, chromosome disorders, chromosomal disorders, chromosome autosomal chromosome disorder autosomal chromosome disorders chromosome abnormality disorder chromosome abnormality disorders chromosome disorder, autosomal chromosome disorders, autosomal disorder, chromosome abnormality chromosomal disorder MONDO:0019042 https://github.com/monarch-initiative/mondo/issues/4069 MCAHS multiple congenital anomalies/dysmorphic syndrome MONDO:0019044 tumor of hematopoietic and lymphoid tissues MONDO:0019046 Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems. HLD hypomyelinating leukodystrophy hypomyelinating leukoencephalopathy leukodystrophy, hypomyelinating Editor note: At this time DO has two classes 'hypomyelinating leukodystrophy' and one 'leukodystrophy' leukodystrophy https://rarediseases.info.nih.gov/diseases/6895/leukodystrophy MONDO:0019050 An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule. Hemoglobinopathies / iron metabolism hemoglobinopathies hereditary hemoglobinopathy hemoglobinopathy inherited hemoglobinopathy MONDO:0019052 An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function. https://github.com/monarch-initiative/mondo/issues/1483 congenital metabolic disorder congenital metabolism disorder hereditary metabolic disease inborn disorders of metabolism inborn error of metabolism inborn errors of metabolism inborn metabolic disorder inborn metabolism disorder inherited disorder of metabolism inherited disorders of metabolism inherited metabolic disorder metabolic hereditary disorder rare inborn errors of metabolism rare inherited metabolic disorder rare metabolic disease Note that the ordo class is specifically for rare diseases, but we broaden to be inclusive of HH1 inborn errors of metabolism MONDO:0019053 A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, intellectual disability, characteristic facial dysmorphic features, hepatomegaly, and hypotonia. https://github.com/monarch-initiative/mondo/issues/5786 disorder of peroxisomal function peroxisomal disease peroxisomal disorder peroxisomal function disorder peroxisomal disease MONDO:0019054 https://github.com/monarch-initiative/mondo/issues/4069 congenital limb malformation congenital limb malformation MONDO:0019056 Any disease that impairs the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions nerve and muscle disorder neuromuscular disease neuromuscular disease MONDO:0019060 A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage. bone neoplasm bone neoplasms bone tissue neoplasm bone tissue tumor bone tumor bone tumors neoplasm of bone neoplasm of bone tissue neoplasm of the bone osseous neoplasm osseous tumor tumor of bone tumor of bone tissue tumor of the bone primary bone cancer primary malignant neoplasm of bone rare bone tumor bone neoplasm MONDO:0019063 vascular anomaly or angioma Editor note: the original ORDO class name is 'vascular anomaly or angioma' but it is implicitly congenital due to its superclasses. TODO revise after https://github.com/Orphanet/ORDO/issues/2 vascular anomaly MONDO:0019064 Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs. spastic paraplegia French settlement disease HSP SPG Strumpell-Lorrain disease Strümpell-Lorrain disease familial spastic paraplegia hereditary spastic paraparesis FSP familial spastic paraparesis hereditary spastic paraplegia https://rarediseases.info.nih.gov/diseases/6637/hereditary-spastic-paraplegia MONDO:0019065 A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands. amyloidosis (disease) amyloid amyloid disease amyloidoses amyloidosis amyloidosis (disease) amyloidosis MONDO:0019067 Steroid-sensitive nephrotic syndrome (SSNS) is a kidney disease defined by selective proteinuria, hypoalbuminaemia and, on renal biopsy, minimal changes without immunoglobulin deposits. idiopathic steroid-sensitive nephrotic syndrome MONDO:0019068 A glomerular disease characterized by severe renal failure and nephrotic syndrome at birth, which rapidly improve in the first weeks of life. https://github.com/monarch-initiative/mondo/issues/4069 FMAIG alloimmune neonatal renal disease fetomaternal alloimmunization with antenatal glomerulopathies neonatal glomerulopathy due to Neprilysin alloimmunization neonatal glomerulopathy due to neprilysin alloimmunization neonatal membranous glomerulopathy with maternal NEP deficiency neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization MONDO:0019071 Pure hair and nail ectodermal dysplasia is characterised by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant. HNED PHNED hair-nail ectodermal dysplasia pure hair and nail ectodermal dysplasia MONDO:0019072 A cholestasis characterized by impairment of the bile flow caused by obstruction located in the liver. intrahepatic cholestasis MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome hypotrichosis-lymphedema-telangiectasia-renal defect syndrome HLTRS glomerulonephritis with sparse hair and telangiectases telangiectatic membranoproliferative glomerulonephritis hypotrichosis-lymphedema-telangiectasia-renal defect syndrome MONDO:0019074 Bilateral acute depigmentation of the iris (BADI) is characterized by acute onset of bilateral iris depigmentation, pigment dispersion in the anterior chamber, and heavy pigment deposition in the anterior chamber angle. Patients typically present with acute and usually severe photophobia, blurred vision, red eye, and ocular discomfort or pain with a usually self-limiting clinical course. Cases often occur after a flu-like illness, upper respiratory tract infection, and after the use of oral moxifloxacin. When associated with iris epithelial depigmentation, iris transillumination defects and atonic/mydriatic pupil, the condition is referred to as bilateral acute iris transillumination (BAIT) which has an increased risk of severe intractable rise in intraocular pressure. BADI bilateral acute depigmentation of the iris MONDO:0019075 Bosley-Salih-Alorainy syndrome (BSAS) is characterized by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation. https://github.com/monarch-initiative/mondo/issues/5507 BSAS Bosley-Salih-Alorainy syndrome MONDO:0019076 Circumscribed palmoplantar hypokeratosis is an ectodermal dysplasia characterised by circular, well-circumscribed patches of erythematous depressed skin. circumscribed palmoplantar hypokeratosis MONDO:0019077 A rare, usually solitary, benign epithelial tumor of the skin that appears to arise from a hair follicle. It usually develops in the head and neck region as a nodular lesion with a central keratotic plug. follicular dyskeratoma isolated follicular keratosis warty dyskeratoma MONDO:0019078 Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies. https://github.com/monarch-initiative/mondo/issues/5588 3C syndrome CCC dysplasia Craniocerebellocardiac dysplasia Ritscher-Schinzel syndrome craniocerebellocardiac dysplasia Dandy-Walker like malformation with atrioventricular septal defect Dandy-Walker-like malformation with ASD Dandy-Walker-like malformation with atrioventricular septal defect Ritscher Schinzel syndrome Ritscher-Schinzel cranio-cerebello-cardiac syndrome cranio-cerebello-cardiac dysplasia Ritscher-Schinzel syndrome https://rarediseases.info.nih.gov/diseases/5666/dandy-walker-like-malformation-with-atrioventricular-septal-defect MONDO:0019079 Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. SMA proximal spinal muscular atrophy https://rarediseases.info.nih.gov/diseases/4531/proximal-spinal-muscular-atrophy MONDO:0019080 Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous. alopecia totalis total alopecia areata alopecia totalis MONDO:0019082 Bullous pemphigoid (BP) is the most common form of autoimmune bullous dermatosis. bullous pemphigoid Old Age pemphigus Parapemphigus Senile dermatitis herpetiformis benign pemphigus pemphigoid bullous pemphigoid MONDO:0019083 Leigh disease with myopathy cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency cardiomyopathy with myopathy due to COX deficiency Leigh syndrome with cardiomyopathy MONDO:0019084 Radiation proctitis is a rare rectal disease directly induced by pelvic radiotherapy and characterized by rectal bleeding, change in bowel habits, tenesmus and sepsis. radiation proctitis MONDO:0019085 Vernal keratoconjunctivitis (VKC) is a chronic, severe allergy that affectsthe surfaces of the eyes. It most commonly occurs in boys living in warm, dry climates. Attacks associated with VKC are common in the spring (hence the name 'vernal') and summer but often reoccur in the winter. Signs and symptoms usually begin before 10 years of age and may include hard, cobblestone-like bumps (papillae) on the upper eyelid; sensitivity to light; redness; sticky mucus discharge; andinvoluntary blinking or spasms of the eyelid (blepharospasm).The condition usually subsides at the onset of puberty. It is caused by ahypersensitivity (allergic reaction)to airborne-allergens. Management focuses on preventing 'flare ups' and relieving the symptoms of the condition. Spring catarrh VKC vernal keratoconjunctivitis https://rarediseases.info.nih.gov/diseases/7854/vernal-keratoconjunctivitis MONDO:0019086 Esophageal carcinoma (EC) is a tumor arising in the epithelial cells lining the esophagus and can be divided into two subtypes: esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EAC). carcinoma of esophagus carcinoma of oesophagus carcinoma of the esophagus esophageal carcinoma esophagus carcinoma cancer of esophagus cancer of oesophagus cancer of the esophagus esophageal cancer esophageal cancer, NOS carcinoma of esophagus MONDO:0019087 A carcinoma that arises from the intrahepatic biliary tree (intrahepatic cholangiocarcinoma) or from the junction, or adjacent to the junction, of the right and left hepatic ducts (hilar cholangiocarcinoma). Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor. bile duct cancer intrahepatic bile duct cancer (cholangiocarcinoma) CC CCA Cholangiocar.- intra/extrahepatic Cholangiocellular carcinoma adult primary cholangiocarcinoma adult primary cholangiocellular carcinoma cholangiocarcinoma cholangiocarcinoma, intrahepatic and extrahepatic bile ducts (adenocarcinoma) cholangiocarcinoma, malignant cholangiosarcoma cholangiocarcinoma MONDO:0019088 Post-transplant lymphoproliferative disorder (PTLD) is a polyclonal (benign) or clonal (malignant) proliferation of lymphoid cells that develops as a consequence of immunosuppression in a recipient of a solid organ or bone marrow allograft. PTLDs comprise a spectrum ranging from early, Epstein-Barr virus (EBV)-driven polyclonal lymphoid proliferations to EBV-positive or EBV- negative lymphomas of predominantly B-cell or less often T-cell type. (WHO, 2001) PTLD post-transplant lymphoproliferative disorder post-transplant lymphoproliferative disease https://rarediseases.info.nih.gov/diseases/9553/post-transplant-lymphoproliferative-disease MONDO:0019091 Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring. BPD bronchopulmonary dysplasia https://rarediseases.info.nih.gov/diseases/5962/bronchopulmonary-dysplasia MONDO:0019092 Infantile apnea is a cessation of respiratory air flow that may affect newborns or older children because of neurological impairment of the respiratory rhythm or obstruction of air flow through the air passages. The symptoms include cyanosis, pallor or bradycardia and snoring in case of obstructive apnea. apnea of infancy infantile apnea MONDO:0019093 Immunodeficiency due to selective anti-polysaccharide antibody deficiency is characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness (IPR). specific antibody deficiency immunodeficiency due to selective anti-polysaccharide antibody deficiency MONDO:0019094 Congenital Epstein-Barr virus (EBV) infection causes no clinical manifestations in the majority of infants. Indeed, the occurrence of congenital infection with EBV has never been demonstrated conclusively and must be very rare. One case have been reported to present after birth, multiple congenital anomalies (micrognathia, cryptorchidism, central cataracts), dystrophy, generalized hypotonia, hepatosplenomegaly, diffuse petechiae and hematomas and multiple areas of metaphysitis of the long bones at birth. A low birth weight was also reported. No specific follow-up of the fetus is recommended following maternal EBV primary-infection. antenatal EBV infection antenatal Epstein-Barr virus infection congenital EBV infection mother-to-child transmission of Epstein-Barr virus infection congenital Epstein-Barr virus infection MONDO:0019095 Plague is a severe bacterial infection caused by the gram-negative bacterium Yersinia pestis. Yersiniosis plague black death infection by Yersinia pestis pest pestilential fever plague MONDO:0019098 An autoimmune form of thrombocytopenia. autoimmune thrombocytopenia MONDO:0019100 Neuromyelitis optica (NMO) and NMO spectrum disorders are inflammatory demyelinating diseases of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis. Devic disease Devic's disease Devic's syndrome Devic syndrome Devic's neuromyelitis optica NMO neuromyelitis optica https://rarediseases.info.nih.gov/diseases/6267/neuromyelitis-optica MONDO:0019101 Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles. retinal capillary malformation MONDO:0019102 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome is characterised by the association of dentinogenesis imperfecta, delayed tooth eruption, facial dysmorphology, small stature, sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to consanguineous parents. Transmission is autosomal recessive. dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome MONDO:0019103 Benign exophthalmos syndrome is characterised by slowly progressive unilateral exophthalmos and ipsilateral mucosal turbinate hypertrophy, without intraorbital or intranasal lesions. bes benign exophthalmos syndrome MONDO:0019104 Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia. Sandifer's syndrome Sandifer syndrome https://rarediseases.info.nih.gov/diseases/9684/sandifer-syndrome MONDO:0019105 A rare, syndromic renal disease characterized by the entrapment of left renal vein (LRV) between the superior mesenteric artery (SMA) and the abdominal aorta, resulting in increased luminal pressure, renal hilar varices, hematuria and, at the microscopic level, rupture of thin-walled veins into the collecting system in renal fornices. RNS left renal vein entrapment syndrome nutcracker syndrome renal nutcracker syndrome MONDO:0019107 The Rh deficiency syndrome, also known as Rh-null syndrome, is a blood disorder where people have red blood cells (RBCs) lacking all Rh antigens. The Rh antigens maintain the integrity of the RBC membrane and therefore, RBCs which lack Rh antigens have an abnormal shape. There are two types of Rh deficiency syndrome: The regulator type is associated with many different changes (mutations) in the RHAG gene. The amorph type is caused by inactive copies of a gene (silent alleles) at the RH locus. As a result, the RBCs do not express any of the Rh antigens. The absence of the Rh complex alters the RBC shape, increases its tendency to break down (osmotic fragility), and shortens its lifespan, resulting in a hemolytic anemia that is usually mild. These patients are at risk of having adverse transfusion reactions because they may produce antibodies against several of the Rh antigens and can only receive blood from people who have the same condition. Rh deficiency syndrome is inherited in an autosomal recessive manner. Management is individualized according to the severity of hemolytic anemia. https://github.com/monarch-initiative/mondo/issues/4521 Rh deficiency syndrome Rh-null syndrome anemia, hemolytic, Rh-null, regulator type RH-null, regulator type RHN RHNR Rh-Mod Rh-null disease Rh-null disease, regulator type Rh-null hemolytic Anemia, regulator type Rh deficiency syndrome https://rarediseases.info.nih.gov/diseases/12916/rh-deficiency-syndrome MONDO:0019108 Silent sinus syndrome is characterised by adult-onset progressive enophthalmos due to collapse of some or all of the maxillary sinus walls. Imploding antrum syndrome silent sinus syndrome MONDO:0019109 CANOMAD syndrome (Chronic Ataxic Neuropathy, Ophthalmoplegia, Monoclonal IgM protein, cold Agglutinins and Disialosyl antibodies) is a rare chronic immune-mediated demyelinating polyneuropathy. chronic ataxic neuropathy-ophthalmoplegia-IgM paraprotein-cold agglutinins-disialosyl antibodies syndrome chronic sensory ataxic neuropathy with anti-dyalosyl IgM antibodies chronic ataxic neuropathy ophthalmoplegia M-protein agglutination disialosyl antibodies syndrome chronic sensory ataxic neuropathy with anti-disialosyl antibodies CANOMAD syndrome https://rarediseases.info.nih.gov/diseases/9778/canomad-syndrome MONDO:0019111 Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation. THCYT familial thrombocythemia hereditary thrombocythemia hereditary thrombocytosis hereditary thrombocytosis disease thrombocythemia familial thrombocytosis MONDO:0019112 Cancer associated retinopathy (CAR) is a paraneoplastic disease of the eye associated with the presence of extraocular malignancy and circulating autoantibodies against retinal proteins. CAR syndrome paraneoplastic retinopathy cancer-associated retinopathy MONDO:0019113 Benign paroxysmal torticollis of infancy (BPTI) is a rare functional disorder characterised by recurrent episodes of torticollic posturing of the head (inclination or tilting of the head to one side) in healthy children. benign paroxysmal torticollis of infancy MONDO:0019114 Psychogenic movement disorders (PMD) are movement disorders that cannot be attributed to any known structural or neurochemical diseases, but represent the manifestation of an underlying psychiatric illness or malingering. Most cases of PMD fall in the psychiatric diagnostic category of conversion disorders of the motor subtype. psychogenic dystonia psychogenic movement disorders MONDO:0019115 Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterised by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function. MC4R deficiency obesity due to melanocortin 4 receptor deficiency MONDO:0019118 An instance of retinal degeneration that is caused by an inherited modification of the individual's genome. fundus dystrophy familial retinal dystrophy genetic retinal dystrophy hereditary retinal degeneration hereditary retinal dystrophy inherited retinal dystrophy retinal dystrophy Editor note: This class deliberately merges distinct concepts of RD and inherited RD in other ontologies, as we believe these the same inherited retinal dystrophy MONDO:0019119 A channelopathy that involves the muscle tissue. channelopathy of muscle tissue muscle tissue channelopathy muscular channelopathy MONDO:0019120 Pili bifurcati is an uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle. pili bifurcati MONDO:0019121 Human pneumocystosis is caused by an infectious agent, which (after recent nomenclature and taxonomy revisions) is now classed as the fungus Pneumocystis jiroveci. The prevalence is unknown. Pneumocystis jiroveci is an opportunistic infectious agent, developing in immunosuppressed patients. It is an air-borne infection, localised to the lungs. However, extrapulmonary involvement is seen in AIDS patients. The disease manifests progressively with coughing, respiratory problems (dyspnea) and fever, followed by acute respiratory insufficiency and death within a few weeks in untreated cases. The most reliable diagnostic method is bronchoalveolar lavage. The treatment of choice is cotrimoxazole. PCP PJP Pneumocystis Pneumocystis carinii pneumonia Pneumocystis jirovecii pneumonia Pneumocystis pneumonia pneumocystosis pneumocystosis pneumonia pulmonary pneumocystosis pneumocystosis https://rarediseases.info.nih.gov/diseases/4386/pneumocystosis MONDO:0019122 Idiopathic acute eosinophilic pneumonia (IAEP) is an eosinophilic pneumonia of undetermined etiology that is characterized by acute febrile hypoxic respiratory failure associated with diffuse radiographic infiltrates and pulmonary eosinophilia, but without concurring allergy or infection. IAEP Loeffler syndrome Loeffler's pneumonia Loffler syndrome Loffler's syndrome Löffler syndrome pulmonary infiltrates with eosinophilia idiopathic acute eosinophilic pneumonia MONDO:0019123 Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development. CSWS CSWSS syndrome continuous spikes and waves during slow-wave sleep epileptic encephalopathy with continuous spike-and-wave during slow sleep continuous spikes and waves during sleep MONDO:0019124 Microscopic polyangiitis (MPA) is an inflammatory, necrotizing, systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs. https://github.com/monarch-initiative/mondo/issues/5261 MPA Micropolyangiitis microscopic polyarteritis microscopic polyangiitis https://rarediseases.info.nih.gov/diseases/3652/microscopic-polyangiitis MONDO:0019125 Relapsing polychondritis (RP) is a rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage with joint, ocular and cardiovascular involvement. chondromalacia, systemic chronic atrophic polychondritis recurrent polychondritis relapsing polychondritis https://rarediseases.info.nih.gov/diseases/7417/relapsing-polychondritis MONDO:0019126 Intractable diarrhoea of infancy (IDI) is a heterogeneous syndrome that includes several diseases with different aetiologies. Provisional classification of IDI, according to villous atrophy and based on immunohistological criteria, distinguishes two clearly different groups of IDI: 1) Immune-mediated: characterised by a mononuclear cell infiltration of the lamina propria and considered as being related to T cell activation. 2) The second histological pattern includes early onset severe intractable diarrhoea histologically characterised by villous atrophy with low or without mononuclear cell infiltration of the lamina propria but specific histological abnormalities involving the epithelium. IDI intractable diarrhea of infancy MONDO:0019127 Polymyositis (PM) is a rare idiopathic inflammatory myopathy characterized by symmetric proximal muscle weakness and elevated muscle enzymes. PM polymyositis polymyositis MONDO:0019128 Mullerian duct failure Müllerian duct failure aplasia of the Mullerian ducts aplasia of the Müllerian ducts Müllerian aplasia mullerian aplasia MONDO:0019129 This syndrome is characterised by the association of global developmental delay, osteopenia and skin anomalies. https://github.com/monarch-initiative/mondo/issues/5588 global developmental delay-osteopenia-ectodermal defect syndrome MONDO:0019130 A syndrome characterised by hypokalaemic metabolic alkalosis secondary to a tubulopathy, hypomagnesaemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy. https://github.com/monarch-initiative/mondo/issues/324 tubular renal disease-cardiomyopathy syndrome MONDO:0019131 Ossification anomalies-psychomotor developmental delay syndrome is characterised by hypomineralisation of the cranial bones, thoracic dystrophy, hypotonia, and abnormal and slender long bones due to an alteration in remodelling during ossification. https://github.com/monarch-initiative/mondo/issues/5588 ossification anomalies-psychomotor developmental delay syndrome MONDO:0019132 spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome MONDO:0019133 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome is characterised by facial dysmorphology, neuropathic visceral dysmotility, neurogenic megacystis, intracerebral calcifications and developmental delay. It has been described in two siblings (brother and sister) born to consanguineous parents. The girl also had microcephaly and multicystic kidneys. The boy had a more extensive neuropathic visceral disorder, leading clinically to chronic intestinal pseudo-obstruction syndrome (CIPO). https://github.com/monarch-initiative/mondo/issues/5588 visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome MONDO:0019134 Central neurocytoma is a very rare brain tumor of young adults (over 100 cases reported worldwide). It is typically found in the lateral ventricles and occasionally in the third ventricle. Symptoms are those of increased intracranial pressure: headache, nausea and vomiting, drowsiness, vision problems and mental changes. Total removal of the tumor is the therapy of choice. Post-operative prognosis is generally good. Neurolipocytoma central neurocytoma (WHO grade II) CNC central neurocytoma https://rarediseases.info.nih.gov/diseases/10641/central-neurocytoma MONDO:0019136 Any infection due to a fungus of the Zygomycota phylum. The disease typically involves the rhino-facial-cranial area, lungs, gastrointestinal tract, skin, or less commonly other organ systems. The infecting fungi have a predilection for invading vessels of the arterial system, causing embolization and subsequent necrosis of surrounding tissue. Zygomycota infectious disease mucormycosis Zygomycosis https://rarediseases.info.nih.gov/diseases/10224/zygomycosis MONDO:0019137 Non-24-hour sleep-wake disorder (non-24 disorder), also known as hypernychthemeral syndrome, is a circadian rhythm sleep disorder characterized by non-synchronization to a 24-hour day leading to insomnia and daytime sleepiness with sometimes severe associated manifestations. circadian rhythm sleep disorder, free running type circadian rhythm sleep disorder, free-running type hypernychthemeral syndrome non-24 non 24 hour sleep wake disorder non-24-hour sleep-wake syndrome MONDO:0019138 bleeding diathesis due to a collagen receptor defect MONDO:0019139 Acquired hemophilia is a bleeding disorder that interferes with the body's blood clotting process. Signs and symptoms include prolonged bleeding, frequent nosebleeds, bruising throughout the body, solid swellings of congealed blood (hematomas), hematuria, and gastrointestinal or urologic bleeding. Acquired hemophilia occurs when the body's immune system attacks and disables a certain protein that helps the blood clot. About half of the cases are associated with other conditions, such as pregnancy, autoimmune disease, cancer, skin diseases, or allergic reactions to medications. acquired haemophilia acquired hemophilia hemophilia, acquired acquired hemophilia MONDO:0019140 Acute ackee fruit intoxication (also referred to as Jamaican vomiting syndrome or sickness) is caused by the ingestion of unripe Blighia sapida fruits. It is a serious intoxication that is frequent in certain countries in the Caribbean and Western Africa. In contrast, it is rare in France and other Western countries. Intoxication leads to toxic hypoglycaemia and inhibition of neoglucogenesis. The hypoglycaemia is caused by the effect of hypoglycin A, which is found in the arils. Jamaican vomiting sickness Jamaican vomiting syndrome acute intoxication by Blighia sapida ackee poisoning acute ackee fruit intoxication MONDO:0019141 Porokeratosis of Mibelli (PM) is a form of porokeratosis that is characterized by the presence of brown single or multiple annular plaques of varying size, that are sometimes confluent, with a distinctive sharply-defined keratotic border. porokeratosis of Mibelli MONDO:0019142 Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both. disorder of porphyrin and heme metabolism disorder of porphyrin metabolism porphyria disorder of porphyrin and hem metabolism hereditary porphyria Hematoporphyria Porphyrinopathy Editor notes: see notes for porphyria cutanea tarda for a discussion of inherited vs sporadic inherited porphyria https://rarediseases.info.nih.gov/diseases/10353/porphyria MONDO:0019143 A foodborne zoonotic disease, endemic to Southeast Asia and the Pacific Islands, caused by the rat lungworm Angiostrongylus cantonensis and that is acquired by the ingestion of the infective larvae on vegetables or in raw or undercooked snails, slugs, land crabs, freshwater shrimps, frogs and lizards. The main feature is eosinophilic meningitis, with clinical manifestations including fever, headache, malaise, fatigue, vomiting, rhinorrhea, blurred vision, diplopia, cough, stiff neck, enteritis, constipation and paraesthesia due to the movement of the worms from the intestines to the lungs, central nervous system and eyes. In severe cases without treatment, coma and death can occur. angiostrongyliasis https://rarediseases.info.nih.gov/diseases/683/angiostrongyliasis MONDO:0019144 Congenital protein S deficiency is an inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S. autosomal recessive thrombophilia due to congenital protein S deficiency hereditary thrombophilia due to congenital protein S deficiency severe hereditary thrombophilia due to congenital protein S deficiency hereditary thrombophilia due to congenital protein S deficiency MONDO:0019145 Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C. Protein C deficiency Protein C deficiency disease autosomal recessive thrombophilia due to PC deficiency autosomal recessive thrombophilia due to congenital protein C deficiency hereditary thrombophilia due to PC deficiency hereditary thrombophilia due to congenital protein C deficiency protein C deficiency severe hereditary thrombophilia due to congenital protein C deficiency hereditary thrombophilia due to congenital protein C deficiency MONDO:0019146 Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guerin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized. MSMD Mendelian susceptibility to atypical mycobacteria Mendelian susceptibility to mycobacterial infections Mycobacterium caused genetic susceptibility to infections due to particular pathogens Mycobacterium genetic susceptibility to infections due to particular pathogens idiopathic infection caused by BCG or atypical mycobacteria inherited susceptibility to mycobacterial diseases MONDO:0019147 The infection of a fly larva (maggot) in human tissue, which most commonly occurs in tropical climates. Affected tissues most commonly include skin, especially if open wounds are present, nasal passages, ears, and eyes. infestation by fly larvae infestation by maggots maggot infestation myiasis, unspecified myiasis MONDO:0019148 Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency. Milder phenotypes as a whole are referred to as cholesterol ester storage disease. The acid lipase enzyme plays an essential role in lysosomal hydrolysis of both esterified cholesterol and triglycerides of lipoproteic origin. In Wolman disease, the rarest form of acid lipase deficiency, these lipids accumulate in most tissues. lysosomal acid lipase deficiency Wolman disease Wolman xanthomatosis Wolman's disease Wolman's or triglyceride storage type III disease acid esterase deficiency acid lipase deficiency xanthomatosis, familial deficiency of cholesterol esterase and triacylglycerol lipase familial visceral xanthomatosis familial xanthomatosis liposomal acid lipase deficiency, Wolman type primary familial xanthomatosis primary familial xanthomatosis with adrenal calcification Wolman disease MONDO:0019149 Cholesteryl ester storage disease (CESD) is a very rare, late-onset, genetic endocrine disease characterized by deficient or inactive lysosomal acid lipase (LAL) causing lipid build-up, which leads to atherosclerosis, hepatomegaly, splenomegaly, progressive liver disease, and malabsorption. cholesterol ester storage disease CESD cholesteryl ester storage disease MONDO:0019150 Familial restrictive cardiomyopathy is a genetic form of heart disease, in which the heart muscle is stiff and cannot fully relax after each contraction. Impaired muscle relaxation causes blood to back up in the atria and lungs, which reduces the amount of blood in the ventricles. familial or idiopathic restrictive cardiomyopathy familial isolated restrictive cardiomyopathy MONDO:0019151 Oligocone trichromacy is a rare non-progressive form of cone photoreceptor dysfunction characterised by reduced visual acuity, normal retinal appearance, absent or reduced cone responses on electroretinography but normal colour vision. Oligocone syndrome oligocone trichromacy MONDO:0019152 Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness and the Mizuo-Nakamura phenomenon. Oguchi disease Oguchi syndrome congenital stationary night blindness, Oguchi type stationary night blindness, Oguchi type Oguchi disease https://rarediseases.info.nih.gov/diseases/10118/oguchi-disease MONDO:0019153 Goossens-Devriendt syndrome is characterised by intrauterine growth retardation, a congenital heart defect, postaxial polydactyly, a brain malformation, abnormal hair with temporal balding, and marked facial dysmorphism. It has been reported in two siblings from unrelated parents. One of the siblings died and the surviving patient showed postnatal growth retardation and severe developmental delay. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/5588 Goossens-Devriendt syndrome brain malformation-congenital heart disease-postaxial polydactyly syndrome MONDO:0019154 Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS). https://github.com/monarch-initiative/mondo/issues/4521 AIS Goldberg - Maxwell syndrome Goldberg-Maxwell syndrome Morris syndrome androgen insensitivity syndrome androgen insensitivity, X-linked recessive androgen resistance syndrome androgen-insensitivity syndrome testicular feminization testicular feminization syndrome AR deficiency DHTR deficiency Feminisation - testicular androgen receptor deficiency dihydrotestosterone receptor deficiency testicular feminization syndrome (formerly) androgen insensitivity syndrome https://rarediseases.info.nih.gov/diseases/5803/androgen-insensitivity-syndrome MONDO:0019155 A condition in males that affects sexual development. It is characterized by underdevelopment of the Leydig cells, which are cells in the testes that secrete male sex hormones (androgens) and are important for male sexual development. Individuals with LCH have a typical male genetic make-up (46, XY), but due to lowered levels of androgens, may have a range of genital (reproductive organ) differences. Individuals with LCH may have a small penis (micropenis),the opening of the urethra may be located on the underside of the penis (hypospadias), or the scrotum may be divided into two halves (bifid scrotum). Given these differences in development, the external genitalia may not appear clearly male or female (ambiguous genitalia). Some individuals with LCH can have female external genitalia and small testes that have not descended and are located in the pelvis, abdomen, or groin. This may be referred to as type 1, whereas less severe cases might be called type 2. LCH is inherited in an autosomal recessive manner and is caused by mutations in the LHCGR gene.Although there is no specific treatment or cure for LCH, there may be ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person. 46,XY DSD due to LH resistance or LHB deficiency 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency 46,XY disorder of sex development due to LH resistance or LHB deficiency 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency Male pseudohermaphroditism due to LH resistance or LHB deficiency Male pseudohermaphroditism due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency 46,XY disorder of sex development due to LH defects LH resistance due to LH receptor deactivation Leydig cell agenesis Male hypergonadotropic hypogonadism due to LHCGR defect Leydig cell hypoplasia MONDO:0019156 Angioosteohypotrophic syndrome is a rare, congenital, vascular anomaly syndrome characterized by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and edematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported. Phlebectatic osteohypoplastic angiodysplasia Servelle-Martorell syndrome angioosteohypotrophic syndrome MONDO:0019157 Acquired idiopathic sideroblastic anaemia is one of a group of disorders known as the myelodysplastic syndromes (MDS) characterised by ineffective haemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukaemia. Acquired idiopathic sideroblastic anaemia is now more commonly referred to as refractory anaemia with ringed sideroblasts or the acronym RARS. https://github.com/monarch-initiative/mondo/issues/5268 AISA MDS with ring sideroblasts MDS-RS Pure sideroblastic Anemia RARS acquired idiopathic sideroblastic anemia myelodysplastic syndrome with Ring sideroblasts primary acquired sideroblastic anemia refractory Anemia with Ring sideroblasts refractory Anemia with ringed sideroblasts refractory anemia with ringed sideroblasts myelodysplastic syndrome with ring sideroblasts MONDO:0019158 Tropical endomyocardial fibrosis is a restrictive cardiopathy, occuring almost exclusively in children and young adults in tropical and subtropical regions, characterized by endocardial fibrosis, affecting the apices and the inflow tract of the right or left ventricle (or both) and manifesting with a restrictive cardimyopathy and atrioventricular regurgitation leading to severe pulmonary hypertension, very high systemic venous pressure and congestive cardiac failure. Suspected etiologies include helminth and protozoal infestation and malnutrition. Davies disease TEMF tropical endomyocardial fibrosis MONDO:0019159 Loeffler's endocarditis is a rare restrictive cardiomyopathy characterized by hypereosinophilia and fibrous thickening of the endocardium, with usually large thrombi against the ventricle walls, that can lead to cardiovascular complications such as heart failure and thromboembolism. It manifests with symptoms like edema, fatigue and shortness of breath. It is usually secondary to eosinophil-associated tissue damage and is associated with idiopathic hypereosinophilic syndrome, chronic eosinophilic leukemia, carcinoma, or lymphoma. eosinophilic endocarditis eosinophilic endomyocardial disease Loeffler endocarditis MONDO:0019160 Primary progressive freezing gait is a rare, heterogeneous, progressively incapacitating neurodegenerative disease characterized by freezing of gait (usually during the first 3 years), later associating postural instability, eventually resulting in a wheelchair-bound state. Other features may include mild bradykinesia, rigidity, postural tremor, hyperreflexia, speech disorder and dementia. The disease is unresponsive to dopaminergic treatments. PPFG primary progressive freezing gait MONDO:0019161 Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration. PHA type 1 PHA1B pseudohypoaldosteronism type I autosomal recessive pseudohypoaldosteronism type 1 MONDO:0019162 A rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function. Gordon hyperkalemia-hypertension syndrome PHA2 PHAII Spitzer-Weinstein syndrome chloride shunt syndrome familial hyperkalemic hypertension hyperkalemia-hypertension syndrome, Gordon type hypertensive hyperkalemia mineralocorticoid resistant hyperkalemia pseudohypoaldosteronism, type 2 pseudohypoaldosteronism, type II Gordon syndrome hyperpotassemia and hypertension familial pseudohypoaldosteronism type 2 MONDO:0019164 6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations. https://github.com/monarch-initiative/mondo/issues/3664 6q terminal deletion syndrome MONDO:0019165 Central precocious puberty (CPP), also referred to as gonadotropin dependent precocious puberty, is an endocrine-related developmental disease characterized by the onset of pubertal changes, with development of secondary sexual characteristics and accelerated growth and bone maturation, before the normal age of puberty (8 years in girls and 9 years in boys). CPP gonadotropin-dependant precocious puberty gonadotropin-dependent precocious puberty precocious puberty, central central precocious puberty MONDO:0019167 A systemic IgA vasculitis that affects small vessels. It is characterized by skin purpura, arthritis, and abdominal and/or renal involvement. https://github.com/monarch-initiative/mondo/issues/4092 https://github.com/monarch-initiative/mondo/issues/5261 HSP Henoch-Schoenlein purpura Henoch-Scholein purpura Henoch-Schonlein purpura IgA vasculitis Schoenlein-Henoch purpura allergic purpura anaphylactoid purpura autoimmune purpura purpura rheumatica purpura, autoimmune rheumatoid purpura Henoch Schonlein purpura purpura, Schonlein-Henoch vascular purpura immunoglobulin a vasculitis MONDO:0019168 Pyomyositis (PM) is a rare primary bacterial infection of the skeletal muscle, usually resulting from hematogenous spread or due to muscle injury, and characterized by pain and tenderness in the affected muscle, fever and abscess formation. PM myositis purulenta tropica myositis tropicans suppurative myositis tropical pyomyositis pyomyositis https://rarediseases.info.nih.gov/diseases/4614/pyomyositis MONDO:0019169 Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency. PDH PDHC deficiency of pyruvic dehydrogenase pyruvate decarboxylase deficiency pyruvate dehydrogenase complex deficiency pyruvate dehydrogenase complex deficiency disease pyruvate dehydrogenase deficiency pyruvate dehydrogenase deficiency MONDO:0019170 Polyarteritis nodosa (PAN) is a rare, clinically heterogeneous, rheumatologic disease characterized by necrotizing inflammatory lesions affecting small- and medium-sized blood vessels. PAN most commonly affects skin, joints, peripheral nerves, the gut, and the kidney. Küssmaul-Maier disease PAN classic polyarteritis nodosa classical polyarteritis nodosa panarteritis nodosa periarteritis nodosa polyarteritis nodosa periarteritis polyarteritis polyarteritis nodosa MONDO:0019171 A hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias. LQTS Romano-Ward long QT syndrome Romano-Ward syndrome Ward-Romano syndrome congenital long QT syndrome familial long QT syndrome hereditary long QT syndrome familial long QT syndrome MONDO:0019172 Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia). aplasia of iris aniridia https://rarediseases.info.nih.gov/diseases/5816/aniridia MONDO:0019173 Rabies is a viral zoonosis leading to a fatal encephalopathy if not treated. lyssa rabies https://rarediseases.info.nih.gov/diseases/7516/rabies MONDO:0019175 A congenital condition that results in swelling in the arms or legs, and can occur during adolescence or adulthood. Loss of motion and pain may also accompany the swelling. Protein-rich lymphatic fluid accumulates in tissues, engorging and enlarging vessels and often causing visible swelling, tenderness, and pain. Left untreated, the affected tissues may continue to swell, and can become hardened or fibrotic and susceptible to infection. Troncular lymphatic malformation primary lymphedema primary lymphedema MONDO:0019176 Trichorhinophalangeal syndromes (TRPS) type 1 and 3 are malformation syndromes characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones. trichorhinophalangeal syndrome type 1 and 3 trichorhinophalangeal syndrome type I or III MONDO:0019177 Leukodystrophy with oligodontia is characterised by progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive. dentoleukoencephalopathy leukodystrophy with oligodontia odontoleukodystrophy MONDO:0019178 The association of auricular abnormalities and cleft lip with or without cleft palate has been described in two siblings. One sibling had postauricular pits, profound myopia, nystagmus and retinal pigment abnormalities. The second sibling was a fetus (gestational age: 23 weeks) with severe cleft lip, cleft palate and external ear abnormalities. auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome MONDO:0019179 Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children. https://github.com/monarch-initiative/mondo/issues/3664 microdeletion 9q22.3 monosomy 9q22.3 MONDO:0019180 A disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting. https://github.com/monarch-initiative/mondo/issues/5682 HHT Osler hemorrhagic telangiectasia syndrome Osler-Weber-Rendu disease Rendu-Osler disease Rendu-Osler-Weber disease hereditary hemorrhagic telangiectasia telangiectasia, hereditary Hemorrahagic, of Rendu, Osler telangiectasia, hereditary hemorrhagic hereditary hemorrhagic telangiectasia MONDO:0019181 Nonspecific X-linked intellectual deficiencies (MRX) belong to the family of sex-linked intellectual deficiencies (XLMR). In contrast to syndromic or specific X-linked intellectual deficiencies (MRXS), which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only symptom of MRX. X-linked non-specific intellectual disability X-linked non-syndromic intellectual disability intellectual disability, X-linked, nonsyndromic intellectual disability, nonsyndromic, X-linked mental retardation, X-linked, nonsyndromic mental retardation, nonsyndromic, X-linked non-specific X-linked intellectual disability non-specific X-linked mental retardation non-syndromic X-linked intellectual disability non-syndromic intellectual disability, X-linked nonsyndromic X-linked intellectual disability isolated X-linked intellectual disability non-syndromic X-linked intellectual disability MONDO:0019182 https://github.com/monarch-initiative/mondo/issues/4521 genetic obesity genetic obesity (disease) leanness, inherited, autosomal recessive monogenic obesity obesity, association with, Autosomal recessive obesity, early-onset, susceptibility to, Autosomal recessive obesity, late-onset, Autosomal recessive obesity, mild, early-onset, Autosomal recessive obesity, severe, Autosomal recessive obesity, severe, and type II diabetes, Autosomal recessive obesity, susceptibility to, Autosomal recessive inherited obesity MONDO:0019186 A bacterial infection caused by Coxiella burnetii. It is transmitted to humans by the inhalation of infected air particles or contact with fluids and feces of infected animals. Signs and symptoms include the abrupt onset of fever, headache, myalgias, and weakness. Coxiella burnetii caused disease or disorder Coxiella burnetii disease or disorder Coxiella burnetii infectious disease Coxiellosis infection due to Coxiella burnetii nine Mile fever quadrilateral fever query fever Coxiella burnetii fever Q fever pneumonia Q fever https://rarediseases.info.nih.gov/diseases/7515/q-fever MONDO:0019187 Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies. Axenfeld syndrome Axenfeldt-Rieger syndrome RGS - Rieger syndrome Rieger syndrome Rieger's anomaly anomaly, Rieger's Hagedoom syndrome goniodysgenesis hypodontia iridogoniodysgenesis with somatic anomalies Axenfeld-Rieger syndrome https://rarediseases.info.nih.gov/diseases/5701/axenfeld-rieger-syndrome MONDO:0019188 A rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics. https://github.com/monarch-initiative/mondo/issues/5588 Broad thumb-hallux syndrome Broad thumbs-halluces syndrome Rubinstein syndrome Rubinstein-Taybi Syndrome proximal chromosome 16p13.3 deletion syndrome RSTS Rubinstein-Taybi syndrome MONDO:0019189 disorder of amino acid and organic acid metabolism disorder of amino acid and other organic acid metabolism inborn disorder of amino acid and other organic acid metabolism MONDO:0019190 Juvenile polyposis of infancy (JPI) is the most severe form of juvenile gastrointestinal polyposis and is characterized by pancolonic hamartomatous polyposis from stomach to rectum, diagnosed in the first two years of life. infantile juvenile polyposis syndrome infantile onset juvenile polyposis syndrome juvenile polyposis syndrome of infancy juvenile polyposis of infancy MONDO:0019191 IgG4-related dacryoadenitis and sialoadenitis (Mikulicz disease) is an IgG4-related sclerosing disease characterized by persistent, usually painless, bilateral enlargement of the lacrimal, parotid, and submandibular glands associated with elevated levels of serum immunoglobulin (Ig) G4 and with lymphocyte and IgG4-positive plasmacyte infiltration. It predominantly causes mouth and eye dryness but can also affect other organs such as the lungs, liver, and kidneys, and be accompanied by complications such as autoimmune pancreatitis (AIP), retroperitoneal fibrosis, and tubulointerstitial nephritis. Mikulicz disease Mikulicz's disease chronic dacryoadenitis and sialadenitis Mikulicz disease (former) Mikulicz syndrome (former) Mikulicz's disease (former) IgG4-related dacryoadenitis and sialadenitis https://rarediseases.info.nih.gov/diseases/7043/igg4-related-dacryoadenitis-and-sialadenitis MONDO:0019192 AKT2-related FPLD familial partial lipodystrophy due to AKT2 mutations AKT2-related familial partial lipodystrophy MONDO:0019193 Acquired generalized lipodystrophy belongs to a group of lipodystrophic syndromes characterized by loss of adipose tissue, and is a syndrome of insulin resistance that leads to increased cardiovascular risk. Acquired generalized lipodystrophy is related to a selective loss of subcutaneous adipose tissue occurring exclusively at the extremities (face, legs, arms, palms and sometimes soles). https://github.com/monarch-initiative/mondo/issues/5723 Lawrence syndrome Lawrence-Seip syndrome acquired generalized lipodystrophy acquired lipoatrophic diabetes acquired generalized lipodystrophy https://rarediseases.info.nih.gov/diseases/12603/acquired-generalized-lipodystrophy MONDO:0019194 Localised lipodystrophies are characterised by loss of subcutaneous tissue from small regions of the body. focal lipodystrophy centrifugal lipodystrophy (subtype) drug-induced localized lipodystrophy (subtype) idiopathic localized lipodystrophy (subtype) panniculitis and localized lipodystrophy (subtype) pressure-induced localized lipoatrophy (subtype) localized lipodystrophy https://rarediseases.info.nih.gov/diseases/5867/localized-lipodystrophy MONDO:0019195 Hereditary inclusion body myopathy type 3 is characterised by congenital joint contractures (normalizing during early childhood), external ophthalmoplegia, and proximal muscle weakness. In adult cases, the muscular weakness is progressive. HIBM3 IBM3 hereditary inclusion body myopathy type 3 inclusion body myopathy type 3 Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia Hereditary inclusion body myopathy type 3 Inclusion body myopathy autosomal dominant Myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome MONDO:0019196 Foix-Alajouanine syndrome, also called subacute ascending necrotising myelitis, results from chronic congestion of the extrinsic pial veins of the spinal cord and of the intrinsic subpial network. It is characterised by progressive ascending deficit over a period of several months or years. Subacute angiohypertrophic myelomalacia Subacute ascending necrotizing myelitis Subacute necrotizing myelitis angiodysgenetic necrotizing myelopathy familial osteosclerosis with abnormalities of the nervous system and meninges Foix-Alajouanine syndrome MONDO:0019197 Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid. Folinic acid responsive seizures Editor note: TODO request from CHEBI folinic acid-responsive seizures MONDO:0019198 Sympathetic ophthalmia (SO) is a bilateral granulomatous anterior uveitis usually occurring within the three months following trauma or a surgical procedure involving one eye. sympathetic ophthalmia sympathetic uveitis sympathetic ophthalmia MONDO:0019199 Interstitial granulomatous dermatitis with arthritis is a rare rheumatologic disease characterized by the occurrence of inflammatory arthritis in association with large, erythematous, symmetrical cutaneous lesions (ranging from typical, but infrequent, cord-like lesions on the flanks to more common violaceous plaques on the trunk and limbs) featuring a typical histologic infiltrate mainly constituted of histiocytes. Ackerman dermatitis syndrome IGDA interstitial granulomatous dermatitis with arthritis MONDO:0019200 Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades. https://github.com/monarch-initiative/mondo/issues/4985 https://github.com/monarch-initiative/mondo/issues/5667 retinitis pigmentosa pericentral pigmentary retinopathy Rod-cone dystrophy retinitis pigmentosa MONDO:0019201 Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state. thyrotoxic hypokalemic periodic paralysis thyrotoxic periodic paralysis https://rarediseases.info.nih.gov/diseases/10814/thyrotoxic-periodic-paralysis MONDO:0019202 A malignant fibroblastic neoplasm arising from the soft tissue. It is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma. fibromyxosarcoma myxofibrosarcoma myxoid MFH myxoid fibrous histiocytoma myxoid malignant fibrous histiocytoma MFS myxofibrosarcoma MONDO:0019203 Acute interstitial pneumonia (AIP), also referred to as Hamman-Rich syndrome, is a rapidly progressive and histologically distinct form of idiopathic interstitial pneumonia. AIP Hamman-rich disease Hamman-rich syndrome accelerated interstitial pneumonia acute interstitial pneumonitis idiopathic pulmonary fibrosis, acute fatal form acute interstitial pneumonia MONDO:0019204 Respiratory bronchiolitis - interstitial lung disease is a mild inflammatory pulmonary disorder developed by cigarette smokers and characterized by shortness of breath and cough, pulmonary function abnormalities of mixed restrictive and obstructive lung disease and high resolution CT scanning showing centrilobular micronodules, ground glass opacities and peribronchiolar thickening. RB-ILD respiratory bronchiolitis-interstitial lung disease syndrome MONDO:0019205 The association of amelogenesis imperfecta and a microscopically typical hair dysplasia has been found in several members of a family in two generations. Transmission is X-linked. trichodysplasia-amelogenesis imperfecta syndrome MONDO:0019206 Sparse hair-short stature-skin anomalies syndrome combines short stature, sparse hair, skin hyperpigmentation and urticaria-like reactions on the hands and arms. An upper central incisor, hypoplastic thumbs and/or palmoplantar hyperkeratosis may also be present. It is thought to be a rare form of ectodermal dysplasia and has been described at least once in a mother and her three sons. Transmission is autosomal dominant, or X-linked. sparse hair-short stature-skin anomalies syndrome MONDO:0019207 DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes. K ATP associated developmental delay, epilepsy and neonatal diabetes developmental delay-epilepsy-neonatal diabetes syndrome DEND syndrome MONDO:0019208 Bickerstaff's brainstem encephalitis (BBE) is a rare post-infectious neurological disease characterized by the association of external ophthalmoplegia, ataxia, lower limb arreflexia, extensor plantar response and disturbance of consciousness (drowsiness, stupor or coma). Bickerstaff brainstem encephalitis MONDO:0019209 A disease due to a virus transmitted by an arthropod). Japanese B encephalitis JE Japanese encephalitis https://rarediseases.info.nih.gov/diseases/6797/japanese-encephalitis MONDO:0019210 Cutaneous neuroendocrine carcinoma is a primary cutaneous cancer arising from a subset of skin neuroendocrine cells (Merkel cells, giving the name Merkel cell carcinoma (MCC)). MCC Merkel cell cancer Merkel cell carcinoma Merkel cell tumor carcinoma of Merkel cell cutaneous APUDoma cutaneous neuroendocrine carcinoma neuroendocrine carcinoma of skin neuroendocrine carcinoma of the skin neuroendocrine skin carcinoma trabecular cancer trabecular skin carcinoma Merkle tumors carcinoma, Merkel cell cutaneous neuroendocrine carcinoma MONDO:0019211 Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission. Anonychia has been described in approximately less than 20 cases; it is likely to be transmitted as an autosomal recessive trait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern. isolated anonychia autosomal recessive nonsyndromic congenital nail disorder-4 congenital anonychia nonsyndromic congenital nail disorder, 4 isolated congenital anonychia MONDO:0019212 Disseminated superficial actinic porokeratosis (DSAP) is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities. disseminated superficial actinic porokeratosis MONDO:0019213 A inherited organic acidemia that involves the brain. brain inherited organic acidemia inherited organic acidemia of brain cerebral organic aciduria MONDO:0019214 An inherited metabolic disease that is has its basis in the disruption of carbohydrate metabolic process. carbohydrate metabolism disorder disorder of carbohydrate transport and metabolism inborn carbohydrate metabolic process disorder inborn carbohydrate metabolism disorder inborn error of carbohydrate metabolic process inborn errors of carbohydrate metabolism rare inborn error of carbohydrate metabolic process carbohydrate metabolic disorder disorder of carbohydrate metabolism inborn carbohydrate metabolic disorder MONDO:0019215 classic organic aciduria MONDO:0019216 https://github.com/monarch-initiative/mondo/issues/4985 inborn disorder of amino acid absorption and transport disorder of amino acid absorption and transport inborn disorder of amino acid transport MONDO:0019218 Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis. inborn bile acid biosynthetic process disorder inborn error of bile acid biosynthetic process rare inborn error of bile acid biosynthetic process disorder of bile acid synthesis inborn errors of bile acid synthesis inborn disorder of bile acid synthesis MONDO:0019219 disorder of neurotransmitter metabolism and transport inborn disorder of neurotransmitter metabolism and transport MONDO:0019220 inborn disorder of cobalamin metabolism and transport disorder of cobalamin metabolism and transport inborn disorder of cobalamin metabolism and transport MONDO:0019222 An inherited metabolic disease that is has its basis in the disruption of sulfur amino acid metabolic process. cytosolic methyl group transfer or sulfur amino acid metabolism disorder inborn error of sulfur amino acid metabolic process inborn sulfur amino acid metabolic process disorder rare inborn error of sulfur amino acid metabolic process disorder of methionine cycle and sulfur amino acid metabolism Editor note: check this inborn disorder of methionine cycle and sulfur amino acid metabolism MONDO:0019223 inborn disorder of fatty acid oxidation and ketone body metabolism disorder of fatty acid oxidation and ketone body metabolism disorder of fatty acid and ketone body metabolism MONDO:0019224 An inherited metabolic disease that is has its basis in the disruption of gamma-aminobutyric acid metabolic process. disorder of GABA metabolism inborn error of gamma-aminobutyric acid metabolic process inborn gamma-aminobutyric acid metabolic process disorder rare inborn error of gamma-aminobutyric acid metabolic process disorder of gamma-aminobutyric acid metabolism inborn disorder of gamma-aminobutyric acid metabolism MONDO:0019225 An inherited metabolic disease that is has its basis in the disruption of gluconeogenesis. https://github.com/monarch-initiative/mondo/issues/4985 gluconeogenesis disorder inborn error of gluconeogenesis inborn gluconeogenesis disorder rare inborn error of gluconeogenesis disorder of gluconeogenesis MONDO:0019226 An inherited metabolic disease that is has its basis in the disruption of glucose transport. inborn error of glucose transport rare inborn error of glucose transport glucose transport disorder MONDO:0019227 An inherited metabolic disease that is has its basis in the disruption of glycerol metabolic process. inborn error of glycerol metabolic process inborn glycerol metabolic process disorder rare inborn error of glycerol metabolic process disorder of glycerol metabolism inborn disorder of glycerol metabolism MONDO:0019228 An inherited metabolic disease that is has its basis in the disruption of histidine metabolic process. https://github.com/monarch-initiative/mondo/issues/4985 https://github.com/monarch-initiative/mondo/issues/5364 disorder of histidine metabolic process disorder of histidine metabolism disturbance of histidine metabolism histidine metabolic process disease histidine metabolism disease inborn disorder of histidine metabolism inborn error of histidine metabolic process inborn error of histidine metabolism inborn histidine metabolic process disorder rare inborn error of histidine metabolic process inborn disorder of histidine metabolism MONDO:0019229 An inherited metabolic disease that is has its basis in the disruption of ketone body catabolic process. disorder of ketolysis inborn error of ketone body catabolic process inborn ketone body catabolic process disorder rare inborn error of ketone body catabolic process inborn disorder of ketolysis MONDO:0019230 disorder of ornithine or proline metabolism inborn disorder of ornithine or proline metabolism MONDO:0019231 https://github.com/monarch-initiative/mondo/issues/4985 disorder of pentose phosphate metabolism inborn disorder of pentose phosphate metabolism MONDO:0019232 https://github.com/monarch-initiative/mondo/issues/4985 disorder of peptide metabolism inborn disorder of peptide metabolism MONDO:0019233 https://github.com/monarch-initiative/mondo/issues/2632 disorder of peroxisomal beta oxidation disorder of peroxisomal beta oxidation https://rarediseases.info.nih.gov/diseases/12470/peroxisomal-beta-oxidation-disorder MONDO:0019234 Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD). https://github.com/monarch-initiative/mondo/issues/2632 PBD, ZSS PBD-ZSD peroxisomal biogenesis disorders peroxisomal biogenesis disorders, Zellweger syndrome spectrum peroxisome biogenesis disorder peroxisome biogenesis disorder spectrum peroxisome biogenesis disorder-Zellweger syndrome spectrum peroxisome biogenesis disorders, Zellweger syndrome spectrum cerebrohepatorenal syndrome PBD-ZSS PBD-Zellweger spectrum disorder ZSD Zellweger spectrum Zellweger spectrum disorder Zellweger spectrum disorders Zellweger syndrome spectrum disorders of peroxisome biogenesis peroxisome biogenesis disorder MONDO:0019235 https://github.com/monarch-initiative/mondo/issues/4985 inborn disorder of phenylalanin or tyrosine metabolism disorder of phenylalanin or tyrosine metabolism inborn disorder of phenylalanine and tyrosine metabolism MONDO:0019236 An inherited metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process. inborn error of purine nucleobase metabolic process inborn purine nucleobase metabolic process disorder rare inborn error of purine nucleobase metabolic process disorder of purine metabolism inborn disorder of purine metabolism MONDO:0019237 An inherited metabolic disease that is has its basis in the disruption of pyridoxine metabolic process. inborn error of pyridoxine metabolic process inborn pyridoxine metabolic process disorder rare inborn error of pyridoxine metabolic process disorder of pyridoxine metabolism inborn disorder of pyridoxine metabolism MONDO:0019238 ANPM inborn error of pyrimidine nucleobase metabolic process inborn pyrimidine nucleobase metabolic process disorder pyrimidine metabolic disorder rare inborn error of pyrimidine nucleobase metabolic process disorder of pyrimidine metabolism inborn disorder of pyrimidine metabolism MONDO:0019239 An inherited metabolic disease that is has its basis in the disruption of serine family amino acid metabolic process. inborn disorder of serine or glycine metabolism inborn error of serine family amino acid metabolic process inborn serine family amino acid metabolic process disorder rare inborn error of serine family amino acid metabolic process disorder of serine or glycine metabolism inborn disorder of serine family metabolism MONDO:0019240 An inherited metabolic disease that is has its basis in the disruption of sterol biosynthetic process. inborn error of sterol biosynthetic process inborn sterol biosynthetic process disorder rare inborn error of sterol biosynthetic process sterol biosynthesis disorder MONDO:0019241 disorder of gamma-glutamyl cycle disorder of the gamma-glutamyl cycle Editor note: request from GO inborn disorder of the gamma-glutamyl cycle MONDO:0019242 An inherited metabolic disease that is has its basis in the disruption of branched-chain amino acid metabolic process. https://github.com/monarch-initiative/mondo/issues/4985 disorder of branched-chain amino acid metabolism inborn branched-chain amino acid metabolic process disorder inborn disorder of branched-chain amino acid metabolism inborn error of branched-chain amino acid metabolic process rare inborn error of branched-chain amino acid metabolic process branched chain amino acid metabolism disorder disorder of branched chain amino acid metabolism Editor note: consider parent for non-inborn form inborn disorder of branched-chain amino acid metabolism MONDO:0019243 An inherited metabolic disease that is has its basis in the disruption of generation of precursor metabolites and energy. inborn error of generation of precursor metabolites and energy inborn generation of precursor metabolites and energy disorder rare inborn error of generation of precursor metabolites and energy disorder of energy metabolism inborn disorder of energy metabolism MONDO:0019245 An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes. inborn error of lipid storage inborn lipid storage disorder lipid storage disease lipoid storage diseas lipoid storage disease lipoid storage disorder rare inborn error of lipid storage lipidoses lipidosis lipoidoses lipoidosis lysosomal lipid storage disorder MONDO:0019246 disorder of lysosomal amino acid transport inborn disorder of lysosomal amino acid transport MONDO:0019248 A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations. mucolipidosis MONDO:0019249 A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies. mucopolysaccharidoses mucopolysaccharidosis MPS mucopolysaccharidosis https://rarediseases.info.nih.gov/diseases/7065/mucopolysaccharidosis MONDO:0019250 disorder of biogenic amine metabolism and transport inborn disorder of biogenic amine metabolism and transport MONDO:0019251 oligosaccharidosis MONDO:0019253 metabolic disease involving other neurotransmitter deficiency MONDO:0019254 inborn errors of purine-pyrimidine metabolism inborn purine-pyrimidine metabolic disorder disorder of purine or pyrimidine metabolism purine-pyrimidine metabolic disorder inborn disorder of purine or pyrimidine metabolism MONDO:0019255 An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease. sphingolipidoses sphingolipidosis https://rarediseases.info.nih.gov/diseases/7672/sphingolipidosis MONDO:0019256 An inherited metabolic disease that is has its basis in the disruption of sterol metabolic process. inborn error of sterol metabolic process inborn sterol metabolic process disorder rare inborn error of sterol metabolic process sterol metabolism disorder MONDO:0019257 Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin. HFE2 JHH juvenile hemochromatosis hemochromatosis juvenile iron overload disease juvenile hemochromatosis type 2 MONDO:0019258 Mild phenylketonuria is a rare form of phenylketouria (PKU), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity. mPKU mild PKU variant PKU variant phenylketonuria mild phenylketonuria https://rarediseases.info.nih.gov/diseases/10324/mild-phenylketonuria MONDO:0019259 Classical phenylketonuria is a severe form of phenylketonuria (PKU) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications. https://github.com/monarch-initiative/mondo/issues/1738 classic PKU classic phenylketonuria MONDO:0019260 A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration. ANCL Kufs disease adult NCL adult neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis of adults CLN4 disease, adult autosomal dominant Kuf's disease neuronal ceroid lipofuscinosis 4 adult neuronal ceroid lipofuscinosis https://rarediseases.info.nih.gov/diseases/10973/adult-neuronal-ceroid-lipofuscinosis MONDO:0019261 A form of neuronal ceroid lipofuscinosis (NCL) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities. Hagberg-Santavuori disease INCL Santavuori disease Santavuori-Haltia disease infantile NCL infantile neuronal ceroid lipofuscinosis MONDO:0019262 A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities. JNCL Spielmeyer-Vogt disease batten disease juvenile NCL juvenile neuronal ceroid lipofuscinosis Editor note: DO class was merged into CLN3 disease but we treat as separate since this class groups different CLNs juvenile neuronal ceroid lipofuscinosis MONDO:0019263 Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity. EPP autosomal erythropoietic protoporphyria MONDO:0019264 Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency with developmental, neurologic and psychiatric manifestations presenting at an intermediate age. NAGA deficiency type 3 Schindler disease type 3 alpha-N-acetylgalactosaminidase deficiency type 3 MONDO:0019265 Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion. hyperinsulinemic hypoglycemia, diazoxide-resistant focal form diazoxide-resistant focal hyperinsulinism MONDO:0019266 SAPHO syndrome (acronym for Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis) is an auto-inflammatory disease, mainly characterized by the association of neutrophilic cutaneous involvement and chronic osteomyelitis. PPHS Pustulo-psoriatic hyperostotic Spondyloarthritis synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome synovitis-acne-pustulosis-hyperostosis-osteitis syndrome acquired hyperostosis syndrome synovitis acne pustulosis hyperostosis osteitis synovitis, acne, Pustlosis, hyperostosis, and osteomyelitis SAPHO syndrome https://rarediseases.info.nih.gov/diseases/7606/sapho-syndrome MONDO:0019267 Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. https://github.com/monarch-initiative/mondo/issues/4985 partial deficiency of methylmalonyl-CoA mutase vitamin B12-unresponsive methylmalonic aciduria type mut- vitamin B12-unresponsive methylmalonic acidemia type mut- MONDO:0019268 A skin disease that involves the epidermis. https://github.com/monarch-initiative/mondo/issues/254 epidermal disease rare epidermal disease epidermal disease MONDO:0019269 Disorders of cornification that are characterized by visible scaling and/or hyperkeratosis of most or all of the skin. Inherited ichthyoses, defined as the generalized form of Mendelian disorders of cornification, affect most or all of the skin. This etiologically and phenotypically heterogenous group of conditions is caused by mutations in various different genes important for keratinocyte differentiation and epidermal barrier function. Acquired forms of ichthyosis can be observed with certain autoimmune, inflammatory, metabolic, endocrine, or infectious diseases or with malignancies. https://github.com/monarch-initiative/mondo/issues/2114 https://github.com/monarch-initiative/mondo/pull/2110 ichthyosis (disease) DOC disorder of cornification fish scale disease fish skin disease ichthyoses ichthyosis ichthyosis (disease) non-syndromic ichthyosis Epidermal keratinocytes undergo a unique form of terminal differentiation and programmed cell death known as cornification. Cornification leads to the formation of the outermost skin barrier, i.e. the cornified layer, as well as to the formation of hair and nails. ichthyosis MONDO:0019270 An umbrella term for a group of rare genetic skin disorders characterized by well-demarcated plaques of reddened, dry and thickened skin. Typically, these lesions are distributed symmetrically on the body and tend to slowly expand and progress over time. erythrokeratoderma MONDO:0019271 acrokeratoderma MONDO:0019272 An instance of palmoplantar keratosis that is caused by an inherited modification of the individual's genome. hereditary PPK hereditary keratosis palmoplantaris hereditary palmoplantar hyperkeratosis hereditary palmoplantar keratosis hereditary palmoplantar keratoderma MONDO:0019276 Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues. epidermolysis bullosa hereditaria hereditary epidermolysis bullosa inherited epidermolysis bullosa MONDO:0019277 epidermal appendage anomaly MONDO:0019278 hair anomaly MONDO:0019280 Excessive hair growth anywhere on the body. hypertrichosis (disease) hypertrichosis hypertrichosis (disease) hypertrichosis MONDO:0019281 isolated hair shaft abnormality isolated genetic hair shaft abnormality MONDO:0019283 A epidermal appendage anomaly that involves the nail. epidermal appendage anomaly of nail nail epidermal appendage anomaly nail anomaly MONDO:0019284 A nail anomaly that is not part of a larger syndrome. nail disorder, nonsyndromic congenital nonsyndromic nail anomaly isolated nail anomaly inherited isolated nail anomaly MONDO:0019286 A epidermal appendage anomaly that involves the sebaceous gland. epidermal appendage anomaly of sebaceous gland sebaceous gland epidermal appendage anomaly sebaceous gland anomaly MONDO:0019287 The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures. congenital ectodermal defect ectodermal dysplasia ectodermal dysplasia (select examples) ectodermal dysplasia syndrome MONDO:0019288 A pigmentation disease that involves the zone of skin. pigmentation anomaly of the skin pigmentation disease of zone of skin zone of skin pigmentation disease pigmentation disease skin pigmentation disorder MONDO:0019289 hyperpigmentation of the skin MONDO:0019290 A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections. hypopigmentation of the skin (disease) hypopigmentation of the skin hypopigmentation of the skin (disease) hypomelanoses hypomelanosis hypopigmentation of the skin MONDO:0019292 dermis elastic tissue disorder MONDO:0019293 A disease that involves the superficial vasculature. skin vascular disorder superficial vasculature disease vascular disease of the skin vascular skin disease vasculature skin disease disorder of blood vessels affecting skin vascular disorder of skin vascular disorders of skin skin vascular disease MONDO:0019294 Editor note: check if genetic mixed dermis disorder MONDO:0019296 A disease involving the superficial fascia. disease of superficial fascia disease or disorder of superficial fascia disorder of superficial fascia superficial fascia disease superficial fascia disease or disorder subcutaneous tissue disorder MONDO:0019297 Excess fluid collection in tissues, causing swelling. It is the result of obstruction of lymphatic vessels or lymph nodes. lymphatic edema lymphatic edema (morphologic abnormality) lymphoedema lymphedema MONDO:0019303 Changes in the organism associated with senescence, occurring at an accelerated rate. premature aging premature aging syndrome MONDO:0019306 A variant of autosomal recessive congenital ichthyosis (ARCI), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body. https://github.com/monarch-initiative/mondo/issues/4069 CIE alligator skin congenital ichthyosiform erythroderma congenital ichthyosiform erythroderma (disease) congenital non bullous ichthyosiform erythroderma erythrodermic ichthyosis ichthyosiform erythroderma non-bullous congenital ichthyosiform erythroderma nonbullous congenital ichthyosiform erythroderma lamellar desquamation of the newborn lamellar ichthyosis congenital non-bullous ichthyosiform erythroderma MONDO:0019307 Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement. GABEB JEB, generalized intermediate JEB-nH gen generalized atrophic benign epidermolysis bullosa generalized junctional epidermolysis bullosa, non-Herlitz type junctional epidermolysis bullosa generalisata mitis junctional epidermolysis bullosa, Disentis type junctional epidermolysis bullosa non-Herlitz type junctional epidermolysis bullosa, generalized intermediate generalized junctional epidermolysis bullosa non-Herlitz type MONDO:0019308 Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina. EBJ-I JEB-I inverse JEB junctional epidermolysis bullosa inversa MONDO:0019309 Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB) occurring in childhood or young adulthood. EB progressive JEB-lo late-onset junctional epidermolysis bullosa https://rarediseases.info.nih.gov/diseases/12921/late-onset-junctional-epidermolysis-bullosa MONDO:0019310 Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area. RDEB-I dystrophic epidermolysis bullosa inversa inverse RDEB inverse recessive dystrophic epidermolysis bullosa recessive dystrophic epidermolysis bullosa inversa MONDO:0019311 Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occassionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi. wooly hair nevus woolly hair nevus MONDO:0019312 Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity. HPS HPS (Hermansky Pudlak syndrome) Hermansky Pudlak syndrome Hermansky-Pudlak syndrome MONDO:0019313 Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts and lymphatic-system malformation. hereditary lymphedema lymphedema, hereditary lymphatic malformation MONDO:0019314 Cutaneous mastocytoma is a form of cutaneous mastocytosis (CM) generally characterized by the presence of a solitary or multiple hyperpigmented macules, plaques or nodules associated with abnormal accumulation of mast cells in the skin. cutaneous local mastocytoma multiple mastocytoma solitary mastocytoma cutaneous mastocytoma MONDO:0019315 Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM) characterized by generalized erythroderma, various degrees of blistering, skin with a ''peau d'orange'' appearance and the accumulation of mast cells in the skin. At least two DCM variants are recognized, one with extreme blistering (Bullous DCM) and one with infiltrations (Pseudoxanthomatous DCM). DCM diffuse cutaneous maculopapulous mastocytosis diffuse cutaneous mastocytosis diffuse cutaneous mastocytosis MONDO:0019316 Maculopapular cutaneous mastocytosis (MCM) is a form of cutaneous mastocytosis (CM) characterized by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. UP/MPCM urticaria pigmentosa urticaria pigmentosa/maculopapular cutaneous mastocytosis Paucicellular mastocytosis telangiectasia macularis eruptive perstans telangiectatic cutaneous mastocytosis maculopapular cutaneous mastocytosis MONDO:0019317 follicular atrophoderma-basal cell carcinoma MONDO:0019318 ILVEN inflammatory linear verrucous epidermal naevus linear verrucose epidermal nevus inflammatory linear verrucous epidermal nevus MONDO:0019319 A benign wart-like, pigmented skin lesion appearing on various parts of the body at birth or early in childhood, usually in linear groupings. verrucous Epidermal Nevus verrucous nevus MONDO:0019320 verrucous nevus acanthokeratolytic acanthokeratolytic verrucous nevus https://rarediseases.info.nih.gov/diseases/5485/verrucous-nevus-acanthokeratolytic MONDO:0019321 A heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population. atypical progeroid syndrome atypical Werner syndrome https://rarediseases.info.nih.gov/diseases/11910/atypical-werner-syndrome MONDO:0019322 pemphigus vegetans MONDO:0019323 Pemphigus erythematosus is a rare superficial pemphigus disease characterized clinically by well-demarcated, localized, erythematous, scaly, hyperkeratotic, crusted plaques, with frequent butterfly distribution over the malar area of the face (but also commonly involving trunk and scalp, and less frequently the extremities, with a photoexposed distribution). Histologically, granular deposits along the dermal-epidermal junction, in addition to intercellular deposition in the upper epidermis, are observed. Senear-Usher syndrome seborrheic pemphigus pemphigus erythematosus MONDO:0019324 Pemphigus foliaceous is a rare superficial pemphigus disease characterized by multiple, pruritic, scaly, crusted cutaneous erosions, with flaky circumscribed patches, localized mostly on the face, scalp, trunk and extremities, often presenting an erythematous base. Mucosal involvement is rarely observed. PF pemphigus foliaceus https://rarediseases.info.nih.gov/diseases/7354/pemphigus-foliaceus MONDO:0019325 phakomatosis pigmentovascularis type 2 phakomatosis cesioflammea MONDO:0019326 phakomatosis caesiomarmorata phakomatosis cesiomarmorata phakomatosis pigmentovascularis type 5 phakomatosis cesiomarmorata MONDO:0019327 phakomatosis pigmentovascularis type 3 phakomatosis spilorosea MONDO:0019328 A lymphangioma characterized by the presence of thin-walled cavernous lymphatic spaces. cavernous lymphangioma cavernous lymphatic malformation macrocystic lymphangioma macrocystic lymphatic malformation MONDO:0019329 capillary lymphatic malformation cutaneous lymphangioma circumscriptum microcystic infiltrating lymphatic malformation microcystic lymphangioma superficial lymphangioma superficial lymphatic malformation capillary lymphangioma microcystic lymphatic malformation MONDO:0019330 Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair. pili multigemini pili gemini MONDO:0019332 Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients.. Buschke-Fischer-Brauer syndrome PPKP1 keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type Brauer-Buschke-Fischer syndrome keratoderma, palmoplantar punctate type 1 punctate palmoplantar keratoderma type I type I punctate palmoplantar keratoderma punctate palmoplantar keratoderma type 1 MONDO:0019333 autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency autosomal recessive hyperinsulinism due to SUR1 deficiency MONDO:0019334 autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency autosomal recessive hyperinsulinism due to Kir6.2 deficiency MONDO:0019335 Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria, an inborn error of amino acid metabolism, characterized by mild symptoms of HPA. mHPA mild HPA non-PKU HPA mild hyperphenylalaninemia MONDO:0019336 Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors. Gardner syndrome Gardner's syndrome intestinal polyposis, osteomas, sebaceous cysts polyposis coli and multiple hard and soft tissue tumors Gardner syndrome MONDO:0019337 An autoimmune disease characterized by blisters on the skin. bullous skin disease bullous dermatosis autoimmune bullous skin disease MONDO:0019338 Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs. Besnier-Boeck-Schaumann disease Boeck sarcoid Boeck's sarcoid Boeck's sarcoidosis Darier-Roussy sarcoid besnier-Boeck-Schaumann syndrome lymphogranulomatosis sarcoid sarcoidosis benign lymphogranulomatosis of Schaumann lupus pernio of Besnier miliary lupoid of boeck Editor note: ORDO makes this a type of cardiomyopathy but this would render the subclass cardiac sarcoidosis equivalent; same with neurogenic sarcoidosis. TODO - check type of hypersensitivity disease sarcoidosis MONDO:0019339 47, XYY syndrome is a sex chromosome aneuploidy where males receive an additional Y chromosome, and is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder. https://github.com/monarch-initiative/mondo/issues/3155 47,XYY 47,XYY syndrome Double Y Double Y syndrome XYY karyotype XYY syndrome Y disomy disomy Y 47, XYY syndrome YY syndrome 47,XYY syndrome MONDO:0019340 Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc). scleroderma (disease) dermatosclerosis scleroderma scleroderma (disease) scleroderma MONDO:0019342 A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a "bird-headed" facial appearance. Harper's syndrome SCKL Seckel-type Dwarfism Virchow-Seckel dwarfism bird-headed dwarfism nanocephalic Dwarfism Seckel syndrome MONDO:0019344 Antisynthetase (AS) syndrome is a clinically heterogeneous form of idiopathic inflammatory myopathy characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease (ILD), and serum autoantibodies to aminoacyl transfer RNA synthetases (anti-ARS). AS syndrome anti-Jo1 syndrome antisynthetase syndrome https://rarediseases.info.nih.gov/diseases/735/antisynthetase-syndrome MONDO:0019345 Shigellosis is a bacterial infection leading to dysentery and is caused by Shigella, which are small, ubiquitous Gram-negative bacteria belonging to the enterobacteria family. There are four species: S. dysenteriae, S. flexneri, S. boydii and S. sonnei, all of which cause bacillary dysentery and are strictly limited to human hosts. Shigella gastroenteritis bacillary dysentery shigellosis Shigella boydii infectious disease Shigella flexneri infectious disease Shigella sonnei infectious disease Shigella dysentery flexner's dysentery japanese dysentery shigellosis https://rarediseases.info.nih.gov/diseases/4818/shigellosis MONDO:0019346 Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis, characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life. Normomorphic sialidosis cherry-red spot-myoclonus syndrome lipomucopolysaccharidosis normosomatic sialidosis cherry red spot myoclonus syndrome myoclonus cherry red spot syndrome sialidosis type I sialidosis type 1 MONDO:0019347 Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS. PSS deciduous skin familial continuous skin peeling syndrome idiopathic deciduous skin keratosis exfoliativa congenita peeling skin disease familial continuous skin peeling skin peeling syndrome peeling skin syndrome MONDO:0019349 Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability. Sotos syndrome Sotos' syndrome cerebral gigantism cerebral gigantism syndrome distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development Sotos syndrome MONDO:0019350 Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis. Minkowski Chauffard syndrome Minkowski-Chauffard disease congenital spherocytic hemolytic anemia hereditary spherocytosis spherocytic anemia congenital spherocytosis hereditary spherocytosis https://rarediseases.info.nih.gov/diseases/6639/hereditary-spherocytosis MONDO:0019351 A spina bifida (disease) that is not part of a larger syndrome. isolated spina bifida (disease) nonsyndromic spina bifida (disease) cleft spine open spine isolated spina bifida MONDO:0019353 Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion. Stargardt 1 fundus flavimaculatus Stargardt disease 1 Stargardt macular dystrophy juvenile onset macular degeneration Stargardt disease https://rarediseases.info.nih.gov/diseases/181/stargardt-disease MONDO:0019354 Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases). Stickler syndrome hereditary progressive arthroophthalmopathy Editor notes: DOID places this under AD, but this is inconsistent with MONDO:0016647 autosomal recessive Stickler syndrome Stickler syndrome MONDO:0019355 A rare inflammatory multisystem disorder characterized clinically by fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash. AOSD Wissler-Fanconi syndrome adult onset Still's disease adult-onset Still disease adult-onset Still's disease Still's disease adult onset adult Still's disease adult-onset Still disease https://rarediseases.info.nih.gov/diseases/436/adult-onset-stills-disease MONDO:0019356 urogenital tract malformation MONDO:0019357 Congenital cervical spinal stenosis is a rare neurological disease characterized by a congenital narrowing of the bony anatomy of the cervical spinal canal (saggital diameter <14mm), predisposing the individual to symptomatic neural compression, such as cramps, paresthesias, pain, muscle hypertonia and weakness, myelopathy and sphincter disturbances. congenital stenosis of the cervical spine congenital cervical spinal stenosis congenital narrowing of cervical spinal canal MONDO:0019358 Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation. encephalopathy due to sulfite oxidase deficiency MONDO:0019359 Rocky Mountain spotted fever refers to an infection caused by the bacterium Rickettsia rickettsia. This particular bacterium is carried by certain species of ticks and spread to humans through the bites of infected ticks. Signs and symptoms of the condition generally develop approximately 2 to 14 days following the tick bite and may include fever, rash, headache, muscle pain, chills, and/or confusion. Some affected people may also experience diarrhea, nausea, vomiting, light sensitivity, hallucinations, and/or excessive thirst. Most cases occur in the spring and summer and are found in children. Risk factors for developing the conditioninclude recent hiking or exposure to ticks in an area where the disease is known to occur. Rocky Mountain spotted fever is typically treated with antibiotics (such as doxycycline or tetracycline). Brazillian spotted Choix Fiebre maculosa Fiebre manchada RMSF So Paulo fever Tick typhus Tobia fever exanthematic typhus of sao Paulo sao Paulo typhus Rocky mountain spotted fever https://rarediseases.info.nih.gov/diseases/7585/rocky-mountain-spotted-fever MONDO:0019360 Rickettsia akari spotted fever vesicular rickettsiosis rickettsialpox MONDO:0019362 A gram-negative bacterial infection caused by Rickettsia prowazekii. It is spread by lice infected with the bacteria. Signs and symptoms include sudden headache, generalized muscle pain, malaise, and macular skin lesions. The infection may affect the central nervous system causing encephalitis. typhus epidemic louse-borne typhus epidemic typhus epidemic typhus fever sylvatic typhus epidemic louse-borne typhus MONDO:0019364 Pseudotyphus of California is a rare, flea-borne Rickettsial disease caused by a Rickettsia felis infection. Patients can be asymptomatic or can present with unspecific symptoms (such as fever, headache, generalized maculopapular rash, myalgia, arthralgia and, ocasionally, eschar. lymphadenopathy, nausea, vomiting, loss of appetite and abdominal pain. Rarely, serious manifestations may occur and include neurological dysfunction (photophobia, hearing loss, and signs of meningitis) and pulmonary compromise. pseudotyphus of California MONDO:0019365 Scrub typhus is a rare dust mite-borne infectious disease caused by the Orientia tsutsugamushi bacterium and characterized clinically by an eruptive fever which is potentially serious. Japanese river fever Kedani fever scrub mite-borne typhus tsutsugamushi tsutsugamushi disease tsutsugamushi fever Mite-borne rickettsiosis Mite-borne typhus chigger-borne rickettsiosis chigger-borne typhus scrub (mite-borne) typhus tropical typhus typhus fever due to Rickettsia tsutsugamushi scrub typhus MONDO:0019366 Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD). free sialic acid storage disease free sialic acid storage disease MONDO:0019367 Regional odontodysplasia (ROD) is a localized developmental anomaly of the dental tissues. ghost teeth regional odontodysplasia MONDO:0019368 Florid cemento-osseous dysplasia (FCOD) is a rare fibro-osseous lesion in the jaw that predominantly affects middle-aged women of African descent. It is generally asymptomatic or may manifest with pain and gingival swelling. Radiologically, it is characterized by multiple dense lobulated bone lesions, often symmetrically located in various regions of the jaw. florid osseous dysplasia focal cemento-osseous dysplasia Gigantiform cementoma florid cemento-osseous dysplasia https://rarediseases.info.nih.gov/diseases/10173/florid-cemento-osseous-dysplasia MONDO:0019369 Complex regional pain syndrome (CRPS) is a rare neurologic disease painful progressive condition that corresponds to a group of disorders characterized by a disproportionate spontaneous or stimulus-induced pain, accompanied by a variably mixed myriad of autonomic and motor disorders including symptoms such as swelling, allodynia, skin blood supply and trophic disturbances. CRPS most often affects one of the arms, legs, hands, or feet and usually occurs after an injury or trauma to that limb. Complex regional pain syndromes CRPS reflex sympathetic dystrophy complex regional pain syndrome MONDO:0019370 vulvovaginal gingival syndrome MONDO:0019371 Narcolepsy without cataplexy is characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and sometimes paralysis at sleep, hypnagogic hallucinations and automatic behavior. narcolepsy without cataplexy MONDO:0019372 A solitary bone cyst is a benign non-epithelial bone cavity that is asymptomatic and that is found most commonly in the second decade of life by chance. The long bones are most often affected, but cases involving the jaw bone have been reported. bone cyst cyst of bone cyst of the bone simple bone cyst solitary cyst unicameral bone cyst Editor note: we follow ORDO and classify as neoplasm but neoplastic nature not defined in NCIT solitary bone cyst MONDO:0019373 Desmoplastic small round cell tumor (DSRCT) is an aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases. DSRCT Desmoplas. small round cell tumor Desmoplastic small round cell tumor Desmoplastic small round-cell neoplasm Desmoplastic small round-cell tumor Polyphenotypic small round cell tumor desmoplastic small round cell tumor desmoplastic small-round-cell tumor desmoplastic small round cell tumor https://rarediseases.info.nih.gov/diseases/6265/desmoplastic-small-round-cell-tumor MONDO:0019374 CAMOS syndrome is characterised by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive. SCAR5 cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome CAMOS cerebellar ataxia with intellectual disability optic atrophy and skin abnormalities cerebellar ataxia with mental retardation optic atrophy and skin abnormalities spinocerebellar ataxia autosomal recessive 5 CAMOS syndrome MONDO:0019375 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic. MPPH syndrome megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome MONDO:0019376 An acute arboviral infection caused by a virus of the Flaviviridae family transmitted by an infected mosquito, that is asymptomatic in the majority of cases but that can present in rare occasions with mild flulike symptoms such as low-grade fever, arthralgia, myalgia, and/or rash, or with neurologic manifestations including meningitis, encephalitis with mental confusion or disorientation, tremors and acute flaccid paralysis/poliomyelitis. West Nile encephalitis West Nile fever encephalitis West Nile fever with encephalitis West Nile virus caused infectious encephalitis West Nile virus infectious encephalitis West-Nile fever West-Nile encephalitis MONDO:0019377 Mycoplasma encephalitis is a rare infectious encephalitis characterized by an acute onset of neurological signs and symptoms (e.g. altered consciousness, seizures, headaches, meningeal signs, behavioral changes) due to bacterial infection by Mycoplasma pneumoniae. Patients typically present unspecific signs and symptoms, such as fever, nausea, vomiting, fatigue, prior to onset of neurological manifestations and frequently have a history of a respiratory tract infection (e.g. pneumonia, bronchiolitis, pharyngitis). Mycoplasma pneumoniae caused infectious encephalitis Mycoplasma pneumoniae infectious encephalitis Mycoplasma encephalitis MONDO:0019378 La Crosse encephalitis (CE) is an acute arboviral infection caused by the La Crosse bunyavirus transmitted by an infected mosquito, usually observed in infants, children or adolescents (6 months to 16 years), and characterized by the onset of flulike symptoms such as fever, chills, nausea, vomiting, headache, and abdominal pain, followed by the onset of encephalitis characterized by somnolence, obtundation, and even seizures, focal neurologic signs (asymmetrical reflexes or Babinski signs), paralysis or even coma. CE can leave sequelae such as residual epilepsy and neurocognitive deficits. California encephalitis California virus encephalitis Californian encephalitis La Crosse virus caused infectious encephalitis La Crosse virus infectious encephalitis Neuroinvasive California encephalitis virus infection la Crosse encephalitis MONDO:0019380 An acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that more frequently affects children and that is characterized by the presence of mild flulike symptoms (fever, chills, headache, nausea, vomiting, and anorexia) but that can progress to weakness, altered mental status, photophobia, mental confusion, seizures, somnolence, coma and/or even death. The disease can leave neurological sequelae, mainly in infants and children, such as seizures, spasticity or behavioral disorders. Western equine encephalitis virus caused infectious encephalitis Western equine encephalitis virus infectious encephalitis Western equine encephalomyelitis WEE western equine encephalitis https://rarediseases.info.nih.gov/diseases/7888/western-equine-encephalitis MONDO:0019383 Acute disseminated encephalomyelitis (ADEM) is a demyelinating disorder of the central nervous system. ADEM acute disseminated encephalitis acute disseminated encephalomyelitis ADE acute disseminated encephalomyelitis https://rarediseases.info.nih.gov/diseases/8639/acute-disseminated-encephalomyelitis MONDO:0019384 A form of encephalitis, the etiology of which is uncertain, that is characterized by lethargy and headache. Von Economo encephalitis encephalitis lethargica epidemic encephalitis lethargic encephalitis von Economo disease von Economo's disease Von Economo’s disease encephalitis lethargica https://rarediseases.info.nih.gov/diseases/6332/encephalitis-lethargica MONDO:0019385 steroid-responsive encephalopathy associated with thyroid disease SREAT Hashimoto encephalitis Hashimoto's encephalitis Hashimoto's encephalopathy Editor note: TODO DP for chebi roles steroid-responsive encephalopathy associated with autoimmune thyroiditis MONDO:0019386 A neurological disorder arising from primary rubella infection of the brain, characterized by chronic encephalitis. It is believed to be due to a persistence or reactivation of rubella virus infection. It usually manifesting between 8–19 years of age. rubella panencephalitis progressive rubella panencephalitis MONDO:0019387 Macrostomia-preauricular tags-external ophthalmoplegia syndrome combines macrostomia or abnormal mouth contour, preauricular tags, uni- or bilateral ptosis and external ophthalmoplegia. It was described in nine members of a Brazilian family. It is a new phenotype belonging to the so-called oculoauriculovertebral spectrum, resulting from a branchial arch anomaly. Transmission is autosomal dominant. macrostomia-preauricular tags-external ophthalmoplegia syndrome MONDO:0019388 PELVIS is an acronym defining the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported. https://github.com/monarch-initiative/mondo/issues/5345 LUMBAR syndrome Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome SACRAL syndrome perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus syndrome urorectal septum malformation sequence pelvis syndrome MONDO:0019390 Susac syndrome (SS) is a rare disorder characterized by the triad of central nervous system (CNS) dysfunction, branch retinal artery occlusions (BRAOs) and sensorineural hearing loss (SNHL). It is presumably due to autoimmune-mediated occlusions of microvessels in the CNS, the retina, and the inner ear. RED-M Retinocochleocerebral vasculopathy SICRET syndrome retinopathy-encephalopathy-deafness associated with microangiopathy small infarctions of cochlear, retinal and encephalic tissue SICRET (small infarction of cochlear, retinal, and encephalic tissue) syndrome Susac syndrome https://rarediseases.info.nih.gov/diseases/7713/susac-syndrome MONDO:0019391 Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. https://github.com/monarch-initiative/mondo/issues/5682 Fanconi anemia Fanconi pancytopenia Fanconi panmyelopathy Fanconi's anemia Panmyelopathy, Fanconi pancytopenia, congenital primary erythroid hypoplasia Fanconi anemia MONDO:0019392 A benign adnexal neoplasm occurring during childhood or adolescence. It usually presents as a papular lesion or a plaque on the head and neck. It may arise in an organoid nevus such as sebaceous. It is characterized by an endophytic invagination of the epithelium into the dermis. There are dermal cystic spaces present, containing villous projections. Complete excision is curative. SCAP Syringadenoma Syringadenoma papilliferum fistulous vegetative verrucous hydradenoma naevus syringocystadenomatosus papilliferus papillary Syringadenoma papillary Syringadenoma (syringocystadenoma papilliferum) papillary syringadenoma (morphologic abnormality) papillary syringocystadenoma syringocystadenoma papilliferum syringocystadenoma papilliferum MONDO:0019393 Idiopathic malabsorption due to increased acid bile synthesis is an intestinal disease of unknown etiology characterized by an overproduction of bile acids which leads to chronic watery diarrhea. idiopathic bile acid malabsorption idiopathic malabsorption due to bile acid synthesis defects MONDO:0019394 Boichis syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child. Boichis disease nephronophthisis-hepatic fibrosis syndrome Senior-Boichis syndrome MONDO:0019395 Hinman syndrome (HS) or non-neurogenic neurogenic bladder is a voiding dysfunction of the bladder of neuropsychological origin that is characterized by functional bladder outlet obstruction in the absence of neurologic deficits. HAS HS Hinman-Allen syndrome non-neurogenic neurogenic bladder occult neuropathic bladder Hinman syndrome MONDO:0019396 Collagen type III glomerulopathy is a rare glomerular disease characterized by abnormal accumulation of type III collagen within the mesangium and subendothelial space of the glomerulus. Clinically it usually manifests with proteinuria (often in the nephrotic range), microscopic hematuria, peripheral edema and/or hypertension. In some cases progression to end-stage renal failure is observed. Collagenofibrotic glomerulopathy collagen type III glomerulopathy MONDO:0019397 unknown leukodystrophy MONDO:0019398 early-onset desmin-related myopathy desmin-related myopathy with Mallory body-like inclusions MONDO:0019399 Isaac's syndrome is an immune-mediated peripheral motor neuron disorder characterized by continuous muscle fiber activity at rest resulting in muscle stiffness, cramps, myokymia, and pseudomyotonia. Isaac-Mertens syndrome Quantal squander syndrome acquired neuromyotonia continuous muscle fiber activity syndrome peripheral nerve hyperexcitability Isaac's-Merten's syndrome Isaacs' syndrome neuromyotonia Isaac syndrome MONDO:0019401 Steroid-resistant, sporadic idiopathic nephrotic syndrome, is a heterogeneous entity. Nephrotic syndrome is characterised by marked proteinuria, with reduced plasmatic levels of albumin, and potentially with oedema. sporadic idiopathic nephrosis sporadic idiopathic steroid-resistant nephrotic syndrome MONDO:0019402 Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb). https://github.com/monarch-initiative/mondo/issues/5657 Beta thalassemia intermedia Beta thalassemia minor Thalassemias, beta- erythroblastic anemia thalassemia major thalassemia, Hispanic gamma-delta-beta beta thalassemia MONDO:0019403 Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA. CDA anemia, congenital dyserythropoietic congenital dyshaematopoietic anaemia dyserythropoietic anemia, congenital congenital dyserythropoietic anemia MONDO:0019404 A usually benign perineurioma not associated with a nerve, arising from the soft tissues. perineurioma soft tissue perineurioma perineurioma https://rarediseases.info.nih.gov/diseases/12698/perineurioma MONDO:0019405 Facial onset sensory and motor neuronopathy is characterised initially by paraesthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease. FOSMN syndrome facial onset sensorimotor neuronopathy syndrome facial onset sensory and motor neuronopathy syndrome facial onset sensory and motor neuronopathy https://rarediseases.info.nih.gov/diseases/12036/facial-onset-sensory-and-motor-neuronopathy MONDO:0019406 Craniofacial conodysplasia is characterised by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait. craniofacial conodysplasia MONDO:0019407 A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has material basis in heterozygous mutation in COG4 on chromosome 16q22.1. https://github.com/monarch-initiative/mondo/issues/4948 SWILS Saul-Wilson syndrome microcephalic osteodysplastic dysplasia microcephalic osteodysplastic dysplasia, Saul-Wilson type microcephalic osteodysplastic dysplasia, Saul-Wilson type MONDO:0019408 Astley-Kendall dysplasia is a lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases. Astley-Kendall syndrome short limbed dwarfism with extensive stippling Astley-Kendall dysplasia MONDO:0019409 Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization childhood or adolescence that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis. Onset usually occurs in the prepubertal period, between 8 and 12 years of age. Ijo Pediatric osteoporosis idiopathic juvenile osteoporosis idiopathic osteoporosis juvenile osteoporosis osteoporosis, juvenile idiopathic juvenile osteoporosis MONDO:0019411 Genochondromatosis is characterized by chondromatosis, typically involving the clavicles, upper end of the humerus, and lower end of the femur. Lesions are bilateral and symmetrical. It has been described four patients from the same family and is transmitted as an autosomal dominant trait. Another disorder, genochondromatosis II, shows strong similarities to genochondromatosis but is characterized by the involvement of the short tubular bones and by normal clavicles. It has been described in one unrelated family. Genochondromatosis II may also be inherited as an autosomal dominant trait. Genochondromatosis has a benign clinical course. genochondromatosis type 1 MONDO:0019412 Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry. dysspondyloenchondromatosis MONDO:0019413 Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism. ischio-spinal dysostosis ischio-vertebral dysplasia ischio-vertebral syndrome MONDO:0019414 A syndrome characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome). BRESHECK syndrome BRESEK syndrome MONDO:0019415 Fetal and neonatal alloimmune thrombocytopenia (NAIT) is a blood disorder that affects pregnant women and their babies. NAIT was first reported in the literature in 1953 and is estimated to occur in as many as 1 in 1200 live births. NAIT results in the destruction of platelets in the fetus or infant due to a mismatch between the mother's platelets and those of the baby. Certain molecules (antigens) on the surface of the baby's platelets are recognized as foreign by the mother's immune system. The mother's immune system then creates antibodies that attack and destroy the baby's platelets. Though NAIT can occur whenever the mother's blood mixes with that of the baby, it is usually triggered when the mother is exposed to the baby's blood during delivery. Many cases of NAIT are mild. Signs and symptoms may include a low platelet count (thrombocytopenia) and signs of bleeding into the skin such as petechiae and purpura. In the most severe cases, NAIT can cause bleeding episodes that may result in death or long-term disability. Bleeding episodes can occur either during pregnancy or after birth. Management of the infant with neonatal alloimmune thrombocytopenia may include platelet transfusions, ultrasounds, and intravenous immunoglobulin (IVIG). Treatment for pregnant mothers at risk for NAIT may include IVIG and steroids. NAIT fetal and neonatal alloimmune thrombocytopenia https://rarediseases.info.nih.gov/diseases/2295/fetal-and-neonatal-alloimmune-thrombocytopenia MONDO:0019416 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome is characterized by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration. This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23. https://github.com/monarch-initiative/mondo/issues/5588 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome MONDO:0019417 X-linked intellectual disability-precocious puberty-obesity syndrome is characterised by moderate intellectual deficit and precocious puberty. It has been described in three males from two generations of one Australian family. Morbid obesity was noted in the mothers of the patients. Transmission is X-linked. https://github.com/monarch-initiative/mondo/issues/5588 X-linked intellectual disability-precocious puberty-obesity syndrome MONDO:0019418 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterised by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked. https://github.com/monarch-initiative/mondo/issues/5588 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome MONDO:0019419 X-linked intellectual disability-macrocephaly-macroorchidism syndrome is characterised by intellectual deficit affecting both sexes, macrocephaly, and macroorchidism in the majority of affected males. It has been described in 12 individuals from two generations of one family. Other males from this family did not display intellectual deficit but did present macroorchidism and macrocephaly. Transmission is X-linked and the causative gene has been localised to the q12-q21 region of the X chromosome. https://github.com/monarch-initiative/mondo/issues/5588 Johnson syndrome X-linked intellectual disability-macrocephaly-macroorchidism syndrome MONDO:0019420 X-linked intellectual disability, Pai type is characterised by the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been localised to the q28 region of the X chromosome. https://github.com/monarch-initiative/mondo/issues/5588 X-linked intellectual disability, Pai type MONDO:0019421 X-linked intellectual disability, Seemanova type is characterised by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked. https://github.com/monarch-initiative/mondo/issues/5588 X-linked intellectual disability, Seemanova type MONDO:0019422 An X-linked syndromic intellectual disability characterised by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome. https://github.com/monarch-initiative/mondo/issues/5588 X-linked intellectual disability, Stevenson type MONDO:0019423 X-linked intellectual disability, Stoll type is characterised by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked. https://github.com/monarch-initiative/mondo/issues/5588 X-linked intellectual disability, Stoll type MONDO:0019424 X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterised by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behaviour, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region. https://github.com/monarch-initiative/mondo/issues/5588 X-linked intellectual disability-acromegaly-hyperactivity syndrome MONDO:0019426 X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome is characterised by intellectual and motor deficit, spastic quadriparesis and agenesis of the corpus callosum, without craniofacial abnormalities or seizures. It has been described in four male members of a family. The mode of inheritance is most likely X-linked recessive. https://github.com/monarch-initiative/mondo/issues/5588 X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome MONDO:0019427 X-linked neurodegenerative syndrome, Bertini type is characterised by generalised hypotonia, psychomotor deficit, congenital ataxia and recurrent bronchopulmonary infections. It has been described in seven males from three generations of a family. Five of them died during the first years of life and the remaining patients developed myoclonic encephalopathy and macular degeneration. The locus has been mapped to Xp22.33-pter. X-linked neurodegenerative syndrome, Bertini type MONDO:0019428 A rare X-linked syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies. https://github.com/monarch-initiative/mondo/issues/5588 fried syndrome MONDO:0019429 An X-linked neurodegenerative disorder characterised by intellectual deficit, blindness, convulsions, spasticity, mild hypomyelination and early death. It has been described in about ten male members from two generations of one family. The genetic defect responsible for the disorder is located in the pericentromeric region of the X chromosome, Xp11.3-q12. X-linked neurodegenerative syndrome, Hamel type MONDO:0019430 X-linked intellectual disability-ataxia-apraxia syndrome is characterised by ataxia, apraxia, intellectual deficit and/or seizures. It has been described in nine males in two unrelated Danish families. It is transmitted as an X-linked recessive syndrome with partial clinical expression in obligate female carriers. https://github.com/monarch-initiative/mondo/issues/5588 X-linked intellectual disability-ataxia-apraxia syndrome MONDO:0019431 Portal vein thrombosis (PVT) is associated with acute (recent) or chronic (long-standing) thrombosis of the portal system. non-cirrhotic portal vein thrombosis primitive portal vein thrombosis MONDO:0019432 Rheumatoid factor-negative polyarthritis is a term used to describe a group of poorly defined heterogenous conditions that incorporates forms of rheumatoid factor-negative polyarthritis and forms of oligoarticular arthritis that become extensive in less than 6 months after onset. juvenile rheumatoid factor-negative polyarthritis polyarthritis without rheumatoid factor rheumatoid factor-negative JIA rheumatoid factor-negative juvenile idiopathic arthritis MONDO:0019433 Oligoarticular juvenile arthritis is the most common form of juvenile idiopathic arthritis (JIA), representing nearly 50% of cases. Oligoarticular JIA Pauciarticular JIA Pauciarticular chronic arthritis Pauciarticular juvenile idiopathic arthritis oligoarticular juvenile idiopathic arthritis MONDO:0019434 Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio. SoJIA Still disease sJIA systemic polyarthritis systemic-onset JIA Still's disease (formerly) systemic juvenile idiopathic arthritis systemic onset juvenile idiopathic arthritis systemic onset juvenile rheumatoid arthritis systemic-onset juvenile idiopathic arthritis https://rarediseases.info.nih.gov/diseases/10966/systemic-onset-juvenile-idiopathic-arthritis MONDO:0019435 A category of juvenile idiopathic arthritis defined by the presence of arthritis affecting five or more separate joints during the first six months of disease, with positive serologic testing for rheumatoid factor. juvenile idiopathic rheumatoid factor-positive polyarthritis polyarthritis with rheumatoid factor polyarticular JIA, RF+ polyarticular juvenile idiopathic arthritis, RF+ polyarticular juvenile idiopathic arthritis, rheumatoid Factor Positive rheumatoid factor-positive polyarticular JIA rheumatoid factor-positive polyarticular juvenile idiopathic arthritis MONDO:0019436 Childhood arthritis typically associated with psoriasis. JPsA juvenile psoriatic arthritis psoriasis-related JIA psoriasis-related juvenile idiopathic arthritis MONDO:0019437 Enthesitis-related juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis that is characterized by both arthritis and inflammation of an enthesitis site (the point at which a ligament, tendon, or joint capsule attaches to the bone). Signs and symptoms generally develop in late childhood or early adolescence and include pain, tenderness, and swelling in joints and at the enthesis. The knee and the back of the ankle (at the Achilles tendon) are the most commonly affected parts of the body. The underlying cause of enthesitis-related juvenile idiopathic arthritis is currently unknown (idiopathic). It is very rare for more than one member of a family to have juvenile arthritis; however, research suggests that having a family member with juvenile arthritis or any autoimmune disease may increase the risk of having juvenile arthritis, in general. Treatment usually involves different types of medications to help manage symptoms and/or physical therapy. enthesitis-related JIA era enthesitis related arthritis, juvenile enthesitis-related arthritis juvenile enthesitis-related arthritis juvenile spondylarthropathy enthesitis-related juvenile idiopathic arthritis https://rarediseases.info.nih.gov/diseases/10969/enthesitis-related-juvenile-idiopathic-arthritis MONDO:0019438 AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor. It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA) restricted to a single organ. Light-chain amyloidosis primary amyloidosis Light chain amyloidosis amyloidosis AL amyloidosis primary systemic primary AL amyloidosis primary amyloidosis (formerly) primary systemic AL amyloidosis primary systemic amyloidosis systemic AL amyloidsis AL amyloidosis MONDO:0019439 Secondary amyloidosis is a form of amyloidosis, that complicates chronic inflammatory disorders (mainly rheumatoid arthritis) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement. inflammatory amyloidosis reactive amyloidosis secondary amyloidosis amyloid A amyloidosis amyloidosis AA AA amyloidosis https://rarediseases.info.nih.gov/diseases/10560/amyloidosis-aa MONDO:0019440 ABeta2Mwt amyloidosis dialysis-related amyloidosis dialysis-related arthropathy wild type ABeta2-microglobulinic amyloidosis Beta-2-microglobulin amyloidosis DRA amyloidosis beta2m amyloidosis dialysis-related wild type ABeta2M amyloidosis https://rarediseases.info.nih.gov/diseases/10563/amyloidosis-beta2m MONDO:0019441 Transthyretin (TTR)-related familial amyloidotic cardiomyopathy is a hereditary TTR-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein. ATTR cardiomyopathy ATTRV122I-related amyloidosis TTR-related amyloid cardiomyopathy TTR-related cardiac amyloidosis transthyretin amyloid cardiopathy transthyretin-related familial amyloid cardiomyopathy ATTRV122I amyloidosis MONDO:0019443 Congenitally uncorrected transposition of the great arteries (congenitally uncorrected TGA), also referred to as complete transposition, is a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial (VA) discordance. D-TGA DTGA congenitally uncorrected transposition of the great arteries congenitally uncorrected transposition of the great vessels isolated ventriculoarterial discordance ventriculoarterial discordance with atrioventricular concordance dextro-looped transposition of the great arteries MONDO:0019444 A zoonotic parasitic disease caused by the consumption of raw or undercooked meat (pork and wild game) infected by nematodes of the genus Trichinella and that is characterized by an enteral (intestinal) phase, that can be asymptomatic or that can manifests with diarrhea, nausea, vomiting and abdominal pain, and a parenteral (muscular) phase, manifesting with fever, periorbital edema, muscle swelling and pain, weakness, and in some cases, skin rash and peripheral edema. Rarely, potentially fatal cardiac (i.e. myocarditis), pulmonary (i.e. pneumonitis, respiratory failure), and nervous system (i.e. meningoencephalitis) complications may occur. https://github.com/monarch-initiative/mondo/issues/4225 Trichinella caused disease or disorder Trichinella disease or disorder Trichinella infectious disease trichinosis Trichinella spiralis infection Human trichinellosis infection with Trichinella trichiniasis trichinellosis MONDO:0019445 Trichofolliculoma is a rare benign follicular hamartoma that develops primarily on the face of adults, with a particular predilection for the back of the nose, but also on the neck or scalp. It presents as a solitary hemispheric flesh-colored nodule with a central pore or black dot that may contain a tuft of hair. trichofolliculoma https://rarediseases.info.nih.gov/diseases/5263/trichofolliculoma MONDO:0019446 Localized lichen myxedematosus is a group of skin diseases characterized by the development of papules, nodules and/or plaques with mucin deposits and a variable degree of fibrosis in the absence of thyroid disease. The group comprises five sub-forms: nodular lichen myxedematosus, discrete papular lichen myxedematosus, papular mucinosis of infancy, acral persistent papular mucinosis and self-healing papular mucinosis. papular mucinosis localized lichen myxedematosus MONDO:0019447 Atypical lichen myxedematosus is an intermediate form of lichen myxedematosus (LM) (a form of mucin dermal deposit) which does not meet the criteria for either scleromyxedema or the localized form. Three clinical subtypes have been described and include scleromyxedema without monoclonal gammopathy; localized forms with monoclonal gammopathy and/or systemic symptoms; localized forms with mixed features of the 5 subtypes of localized LM (discrete form, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and a pure nodular form). The course of atypical LM is unpredictable because only a few cases have been reported. Intermediate lichen myxedematosus atypical lichen myxedematosus MONDO:0019448 Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia. ADCME BAFME FAME FCMTE autosomal dominant cortical myoclonus and epilepsy benign adult familial myoclonus epilepsy familial adult myoclonic epilepsy familial cortical myoclonic tremor and epilepsy benign adult familial myoclonic epilepsy MONDO:0019449 Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterised by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and foetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia. lissencephaly type 3-familial fetal akinesia sequence syndrome MONDO:0019450 Lissencephaly with cerebellar hypoplasia (LCH) is a variant form of lissencephaly and involves a heterogeneous group of cortical malformations without severe congenital microcephaly (>-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F. LCH lissencephaly with cerebellar hypoplasia MONDO:0019451 A rare chronic myeloproliferative neoplasm characterized by neutrophilic leukocytosis. There is no detectable Philadelphia chromosome or BCR/ABL fusion gene. chronic neutrophilic leukemia neutrophilic leukemia CNL chronic neutrophilic leukemia https://rarediseases.info.nih.gov/diseases/10585/chronic-neutrophilic-leukemia MONDO:0019452 This subgroup of myeloproliferative neoplasms includes cases which do not meet the morphologic criteria of any of the defined myeloproliferative neoplasms, or which have characteristics that overlap at least two of the myeloproliferative neoplasms. CMPD, U CMPD-U MPN, U MPN-U chronic myeloproliferative disease, unclassifiable chronic myeloproliferative disorder, unclassifiable myeloproliferative neoplasm, unclassifiable unclassifiable chronic myeloproliferative disease unclassifiable chronic myeloproliferative disorder undifferentiated myeloproliferative disease myeloproliferative neoplasm, unclassifiable MONDO:0019453 Refractory cytopenias with multilineage dysplasia (RCMD) is a frequent subtype of myelodysplastic syndrome (MDS) characterized by 1 or more cytopenias in the peripheral blood and dysplasia in 2 or more myeloid lineages. https://github.com/monarch-initiative/mondo/issues/5268 MDS-MLD RCMD refractory cytopenia with multilineage dysplasia myelodysplastic syndrome with multilineage dysplasia MONDO:0019454 A myelodysplastic syndrome characterized by the presence of 5-19% myeloblasts in the bone marrow or 2-19% blasts in the peripheral blood. It includes two categories: myelodysplastic syndrome with excess blasts-1 and myelodysplastic syndrome with excess blasts-2. https://github.com/monarch-initiative/mondo/issues/5268 MDS-EB RAEB myelodysplastic syndrome with Excess blasts refractory Anemia with Excess blasts refractory Anemia with an Excess of blasts myelodysplastic syndrome with excess blasts MONDO:0019455 An acute myeloid leukemia characterized by bone marrow fibrosis without preexisting primary myelofibrosis. APMF acute (malignant) myelofibrosis acute (malignant) myelosclerosis acute myelodysplasia with myelofibrosis acute myelofibrosis acute myelosclerosis acute panmyelosis acute panmyelosis with myelofibrosis https://rarediseases.info.nih.gov/diseases/11907/acute-panmyelosis-with-myelofibrosis MONDO:0019456 An acute myeloid leukemia arising de novo and not as a result of treatment. It is characterized by the presence of myelodysplastic features in at least 50% of the cells of at least two hematopoietic cell lines. Patients often present with severe cytopenia. AML with multilineage dysplasia AML with myelodysplasia-related features De novo acute myeloid leukemia with multilineage dysplasia acute myeloid leukaemia with myelodysplasia-related features acute myeloid leukemia with multilineage dysplasia MONDO:0019457 An acute myeloid leukemia secondary to a myelodysplastic syndrome or therapy-related. (WHO, 2001) Secondary AGL Secondary Acute granulocytic Leukemia Secondary Acute myeloblastic Leukemia Secondary Acute myelocytic Leukemia Secondary Acute myelogenous Leukemia Secondary Acute myeloid Leukemia (AML) secondary AML secondary acute myeloid leukemia therapy-related AML and myelodysplastic syndrome therapy related acute myeloid leukemia and myelodysplastic syndrome https://rarediseases.info.nih.gov/diseases/12762/therapy-related-acute-myeloid-leukemia-and-myelodysplastic-syndrome MONDO:0019458 A rare acute myeloid leukemia in which the immature cells differentiate towards basophils. basophilic leukemia leukemia basophilic acute basophilic leukemia MONDO:0019460 An acute leukemia in which the blasts lack sufficient evidence to classify as myeloid or lymphoid or they have morphologic and/or immunophenotypic characteristics of both myeloid and lymphoid cells. (WHO, 2001) acute leukemia of ambiguous lineage acute leukemia of indeterminate lineage hybrid acute leukemia mixed lineage acute leukemia ALL with myeloid markers AML with lymphoid markers BAL acute leukemia of undetermined lineage biphenotypic acute leukemia mixed phenotype acute leukemia acute leukemia of ambiguous lineage MONDO:0019461 A neoplasm of prolymphocytes affecting the blood, bone marrow, and spleen. It is characterized by prolymphocytes exceeding 55% of the lymphoid cells in the blood and profound splenomegaly. B prolymphocytic leukemia B-PLL B-cell prolymphocytic leukemia BPLL B-cell prolymphocytic leukemia MONDO:0019462 Splenic marginal zone lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement in the spleen, bone marrow and, frequently, the blood. It usually presents with splenomegaly, lymphocytosis, anemia and/or thrombocytopenia. Hepatitis C virus and autoimmune manifestations, such as autoimmune hemolytic anemia and autoimmune thrombocytopenia, could be associated. SLVL SMZL marginal zone lymphoma of spleen marginal zone lymphoma of the spleen splenic lymphoma with circulating villous lymphocytes splenic marginal zone B-cell lymphoma splenic marginal zone B-cell lymphoma with villous lymphocytes splenic marginal zone lymphoma splenic marginal zone lymphoma with villous lymphocytes splenic marginal zone lymphoma MONDO:0019463 Randall disease non-amyloid MIDD non-amyloid monoclonal immunoglobulin deposition disease MONDO:0019464 Heavy-chain diseases (HCDs) are rare monoclonal lymphoplasma-cell proliferative disorders involving B cells and are characterized by the synthesis of truncated heavy chains without associated light chains. HCD heavy chain disease heavy chain disease MONDO:0019465 Nodal marginal zone B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma, characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement of the lymph nodes, sometimes the bone marrow, and rarely the blood. Clinically it presents with disseminated peripheral, abdominal and/or thoracic lymphadenopathy. Cytopenia and bulky tumors (greater than 5 cm) are rare. Association with Hepatitis C virus and chronic inflammation has been reported. Monocytoid B-cell lymphoma NMZL nodal marginal zone B-cell lymph. nodal marginal zone B-cell lymphoma nodal marginal zone lymphoma nodal marginal zone B-cell lymphoma MONDO:0019466 Lymphomatoid granulomatosis (LYG) is a very rare Epstein-Barr virus (EBV)-driven lymphoproliferative disease most commonly occurring in adults (in the fourth to sixth decade of life) and commonly affecting the lungs (with presentations varying from small bilateral pulmonary nodules to large necrotic and sometimes cavitating lesions), skin, central nervous system, and kidneys, but only very rarely affecting the lymph nodes and spleen. The symptoms associated with LYG depend on the site of disease involvement but mainly include cough, dyspnea or chest pain (in those with pulmonary involvement) and constitutional symptoms such as weight loss and fever. LYG lymphomatoid granulomatosis https://rarediseases.info.nih.gov/diseases/6943/lymphomatoid-granulomatosis MONDO:0019467 An aggressive immature hematologic neoplasm formerly known as blastic NK cell lymphoma, composed of cells with a lymphoblast-like morphology. Recent evidence suggests derivation from a plasmacytoid monocyte. Patients present with cutaneous tumors and bone marrow involvement. BPDCN CD4+/CD56+ hematodermic neoplasm agranular CD4+ CD56+ hematodermic neoplasm/tumor agranular CD4+ natural Killer cell leukemia blastic NK-cell lymphoma blastic natural Killer leukemia/lymphoma blastic plasmacytoid Dendritic cell neoplasm blastic plasmacytoid dendritic cell neoplasm early plasmacytoid Dendritic cell leukemia/lymphoma lymphoblastoid variant of NK-cell lymphoma monomorphic NK-cell lymphoma primary cutaneous CD4+/CD56+ hematolymphoid neoplasm blastic plasmacytoid dendritic cell CD4+/CD56+ hematodermic neoplasm https://rarediseases.info.nih.gov/diseases/10556/blastic-plasmacytoid-dendritic-cell MONDO:0019468 A slow-growing type of leukemia (blood cancer) in which too many lymphocytes are found in the bone marrow and/or blood. The T-cell is specified as the defective cell line. CLL, T-cell T cell CLL T cell chronic lymphocytic leukemia T cell prolymphocytic leukemia T prolymphocytic leukemia T-PLL T-cell CLL T-cell chronic lymphocytic leukemia T-cell prolymphocytic leukemia chronic T-cell leukemia chronic T-cell lymphocytic leukemia TPLL leukemia, T-cell, chronic T-cell prolymphocytic leukemia MONDO:0019469 T-cell large granular lymphocyte leukemia (T-cell LGL leukemia) is a lymphoproliferative malignancy that arises from the mature T-cell (CD3+) lineage. LGLL T gamma lymphoproliferative disorder T-LGL T-LGL leukemia T-cell LGL leukemia T-cell large gran. lymph. leuk. T-cell large granular lymphocyte leukemia T-cell large granular lymphocytic leukemia T-gamma lymphoproliferative disorder Tgamma large granular lymphocyte leukemia large cell granular lymphogenous leukemia large cell granular lymphoid leukemia large granular lymphocytic leukemia large granular lymphocytosis leukemia, large granular LYMPHOCYTIC, malignant proliferation of large granular lymphocytes LGL leukemia TLGL large granular lymphocyte leukemia T-cell large granular lymphocyte leukemia MONDO:0019470 A rare, highly aggressive, Epstein-Barr virus-associated leukemia, also known as aggressive NK-cell leukemia/lymphoma; it may represent the leukemic counterpart of nasal type extranodal NK/T-cell lymphomas. It affects primarily teenagers and young adults. It is characterized by the systemic proliferation of NK cells in the peripheral blood, bone marrow, liver, and spleen. ANKCL NK cell leukemia NK-cell LGL leukemia NK-cell large granular lymphocyte leukemia NK-cell leukemia aggressive NK-cell leukemia aggressive NK-cell leukemia (morphologic abnormality) aggressive NK-cell leukemia/lymphoma aggressive NK-cell lymphoma large granular lymphocyte leukemia, NK-cell type leukemia (disease) of natural killer cell natural Killer cell leukemia natural killer cell leukemia natural killer cell leukemia (disease) ANKL aggressive NK cell leukemia aggressive natural killer cell leukemia aggressive NK-cell leukemia https://rarediseases.info.nih.gov/diseases/10493/aggressive-nk-cell-leukemia MONDO:0019471 A peripheral (mature) T-cell neoplasm linked to the human T-cell leukemia virus type 1 (HTLV-1), adult T-cell leukemia/lymphoma is endemic in several regions of the world, in particular Japan, the Caribbean, and parts of Central Africa. ATLL T-cell leukemia of adults adult T-cell leukemia adult T-cell leukemia/lymphoma HTLV-1 associated adult T-cell lymphoma/leukemia HTLV-I associated adult T-cell leukemia/lymphoma adult T cell lymphoma/leukemia adult T-cell leukaemia adult T-cell leukaemia/lymphoma (HTLV-1 positive) adult T-cell lymphoma adult T-cell lymphoma/leukemia adult T-cell leukemia/lymphoma MONDO:0019472 Extranodal nasal NK/T cell lymphoma (NKTCL) is a rare, malignant neoplasm mainly affecting men in the fifth decade of life, that usually arises in the nose, paranasal sinuses, orbits or upper airway, and that can present with a nasal mass, nasal bleeding, nasal obstruction, palate perforation (i.e. midline perforation of the hard palate), and mid-facial and/or upper airway destructive lesions. In advanced disease stages, which are associated with a poor prognosis, NKTCL may disseminate to other organs. A few cases of NKTCL presenting primarily in the lymph nodes have also been described. Extranodal NK/T lymphoma-nasal Extranodal NK/T-cell lymphoma, nasal type NK/T-cell lymphoma NKTCL angiocentric T-cell lymphoma lethal midline granuloma nasal T/natural killer-cell lymphoma nasal type Extranodal NK/T-cell lymphoma reticulosis, malignant extranodal nasal NK/T cell lymphoma MONDO:0019473 An uncommon mature T-cell lymphoma of intraepithelial lymphocytes. It usually arises from the small intestine, most commonly the jejunum or ileum. Other less frequent primary anatomic sites include the duodenum, stomach, colon, or outside the gastrointestinal tract. It is seen with increased frequency in regions with a high prevalence of celiac disease. EATL EATL, type I ETTL enteropathy associated T-cell lymphoma enteropathy-associated T-cell lymphoma, type I enteropathy-type T-cell lymphoma intestinal T-cell lymphoma EATCL high-grade pleomorphic peripheral T-cell lymphoma Editor note: consider moving ORDO class to SI subclass enteropathy-associated T-cell lymphoma https://rarediseases.info.nih.gov/diseases/9809/enteropathy-associated-t-cell-lymphoma MONDO:0019474 An extranodal, mature T-cell non-Hodgkin lymphoma that originates from cytotoxic T-cells, usually of gamma/delta T-cell type. It is characterized by the presence of medium-size neoplastic lymphocytes infiltrating the hepatic sinusoids. A similar infiltrating pattern is also present in the spleen and bone marrow that are usually involved at the time of the diagnosis. Hepatosplenic gamma/Delta T-cell lymphoma HSTCL hepatosplenic T-cell lymphoma MONDO:0019475 Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic cutaneous lymphoma that has been recognized as a distinct subset of peripheral T-cell lymphomas originating and presenting primarily in the subcutaneous fat tissue. SPTCL subcutaneous panniculitic T-cell lymphoma subcutaneous panniculitis-like T-cell lymphoma subcutaneous panniculitis-like T-cell lymphoma (Alpha/Beta type) subcutaneous panniculitis-like T-cell lymphoma, Alpha/Beta type T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE subcutaneous panniculitis-like T-cell lymphoma MONDO:0019476 primary cutaneous unspecified peripheral T-cell lymphoma primary cutaneous peripheral T-cell lymphoma not otherwise specified MONDO:0019478 A nodular lymphocyte predominant Hodgkin lymphoma occurring in adults. nodular lymphocyte predominant Hodgkin lymphoma adult NLPHD adult nodular lymphocyte predominant Hodgkin's disease adult nodular lymphocyte predominant Hodgkin's lymphoma adult nodular lymphocyte predominant Hodgkin lymphoma MONDO:0019479 An aggressive malignant neoplasm with a poor response to therapy, usually presenting as stage III/IV disease. It is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes. histiocytic sarcoma sarcoma, histiocytic, malignant histiocytic sarcoma MONDO:0019480 A neoplastic proliferation of Langerhans cells with overtly malignant cytologic features. It can be considered a higher grade variant of Langerhans cell histiocytosis (LCH) and it can present de novo or progress from antecedent LCH. (WHO, 2001) Langerhans cell sarcoma sarcoma of Langerhans cell LCS malignant Langerhans cell sarcoma Langerhans cell sarcoma https://rarediseases.info.nih.gov/diseases/10491/langerhans-cell-sarcoma MONDO:0019482 dendritic cell sarcoma not otherwise specified MONDO:0019483 Methotrexate-associated lymphoproliferative disorders are rare immunodeficiency-associated lymphoproliferative diseases characterized by lymphoid proliferation or lymphomas (large B-cell lymphoma, T-cell lymphoma, Hodgkin lymphoma, reactive lymphadenitis and a polymorphic post-transplant lymphoproliferative disorder) that develop in patients with different autoimmune diseases treated with methotrexate. Swelling is the predominant manifestation of the disease and regression after methotrexate withdrawal is observed in a significant proportion of patients. MTX-LPD MTX-associated lymphoproliferative disorders methotrexate-associated lymphoproliferation methotrexate-associated lymphoproliferative disorder methotrexate-associated lymphoproliferative disorders MONDO:0019484 A rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty. hypothalamic hamartomas with gelastic seizures MONDO:0019485 A rare acute encephalopathy with inflammation-mediated status epilepticus characterized by infancy-onset of refractory unilateral, mainly clonic status epilepticus during or shortly after a febrile episode without evidence of central nervous system infection, followed by permanent or transient hemiplegia with a minimum duration of one week. The majority of children develop pharmaco-resistant epilepsy a few months later. Brain imaging shows edematous swelling of the affected hemisphere at the time of the initial status, followed by hemiatrophy that does not correlate with any vascular territory. HHE syndrome IHHS hemiconvulsion-hemiplegia-epilepsy syndrome idiopathic hemiconvulsion-hemiplegia syndrome MONDO:0019486 https://github.com/monarch-initiative/mondo/issues/5740 benign myoclonic epilepsy of infancy benign myoclonus epilepsy of infancy myoclonic epilepsy of infancy MONDO:0019487 epilepsy with myoclonic absences MONDO:0019488 A rare epilepsy syndrome characterized by recurrent, long-lasting myoclonic status in infants and young children with a non-progressive encephalopathy, associated with transient and recurring motor, cognitive and/or behavioral disturbances. myoclonic status in non-progressive encephalopathies myoclonus epilepsy in non-progressive encephalopathies myoclonic epilepsy in non-progressive encephalopathies MONDO:0019489 Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterised by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant. diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome diffuse palmoplantar keratoderma - acrocyanosis syndrome MONDO:0019490 A hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death. PFHB familial Lenegre disease familial Lenègre disease familial Lev disease familial Lev-Lenegre disease familial Lev-Lenègre disease familial PCCD familial progressive heart block hereditary bundle branch defect familial progressive cardiac conduction defect progressive familial heart block MONDO:0019493 Adult heart tumor refers to neoplasms of the heart that manifest in adults and generally present with a variety of non-specific manifestations (depending on tumor site and infiltration) such as weight loss, exhaustion, hemorrhagic pericardial effusion, heart failure, arrhythmias, and embolisms, or that can also be asymptomatic. In adults 75% of heart tumors are benign, with myxoma being the most common benign tumor (accounting for 50-70% of all primary heart tumors) and rhabdomyosarcoma comprising 75% of malignant heart tumors. Other malignant tumors of the heart include fibrosarcoma and leiomyosarcoma (see these terms). adult cardiac tumor adult heart tumor primary adult heart tumor MONDO:0019494 Cardiac tumours are benign or malignant neoplasms arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic. Cardiac tumor of child heart tumor of child pediatric heart neoplasm primary pediatric heart tumor MONDO:0019496 Endocrine tumours, also referred to as neuroendocrine tumours (NETs), are defined by a common phenotype which is characterized by the expression of general markers (neuron specific enolase, chromogranin, synaptophysin) and hormone secretion products. These tumours may be localized in any part of the body and are generally discovered in non-specific situations, i.e. not immediately suggestive of NETs (tests for inherited predisposition to tumours or for a clinical syndrome caused by abnormal hormone secretion). APUDoma neuroendocrine neoplasm neuroendocrine tumor Editor note: TODO design pattern, often NCIT uses 'neuroendocrine tumor' for particular grading with 'neuroendocrine neoplasm' as the superclass neuroendocrine neoplasm MONDO:0019497 A disease characterized by hearing loss that is not part of a larger syndrome. https://github.com/monarch-initiative/mondo/issues/551 nonsyndromic deafness nonsyndromic hearing loss nonsyndromic hereditary hearing loss familial deafness isolated genetic deafness non-syndromic genetic deafness nonsyndromic genetic deafness nonsyndromic genetic hearing loss https://rarediseases.info.nih.gov/diseases/6410/familial-deafness MONDO:0019498 An disease or disorder caused by infection with Tunga penetrans. Tunga penetrans caused disease or disorder Tunga penetrans disease or disorder Tunga penetrans infectious disease S penetrans Sarcopsylla penetrans T penetrans Tunga penetrans chigger flea tungiasis https://rarediseases.info.nih.gov/diseases/393/tungiasis MONDO:0019499 Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome. gonadal dysgenesis 45,X gonadal dysgenesis 45,X syndrome 45,X/46,XX syndrome 45,X0 syndrome 45X syndrome XO syndrome gonadal dysgenesis - Turner karyotype 45, X monosomy X syndrome monosomy X 45, X syndrome Bonnevie-Ullrich syndrome Schereshevkii Turner syndrome Turner Varny syndrome Ullrich-Turner syndrome chromosome X monosomy X genital dwarfism genital dwarfism, Turner type gonadal dysgenesis (45,X) gonadal dysgenesis Turner type Turner syndrome https://rarediseases.info.nih.gov/diseases/2458/genital-dwarfism https://rarediseases.info.nih.gov/diseases/2540/gonadal-dysgenesis-turner-type https://rarediseases.info.nih.gov/diseases/7831/turner-syndrome MONDO:0019500 Extragonadal teratoma is an extremely rare, benign or malignant germ cell tumor characterized, clinically, by a teratoma presenting in an extragonadal location (e.g. retroperitoneum, mediastinum, craniofacial or sacrococcygeal region, intraosseous, solid organs) and, histologically, by displaying well-differentiated structures, as well as immature elements. Presenting symptoms are variable depending on size and location of tumor. extragonadal teratoma MONDO:0019501 A syndromic diseae characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss. Usher's syndrome ush deafness-retinitis pigmentosa syndrome retinitis pigmentosa-deafness syndrome Graefe-Usher syndrome Hallgren syndrome dystrophia retinae pigmentosa-dysostosis syndrome Usher syndrome MONDO:0019502 Autosomal recessive form of non-syndromic intellectual disability. https://github.com/monarch-initiative/monarch-disease-ontology/issues/407 https://github.com/monarch-initiative/mondo/issues/4985 AR-NSID NS-ARID autosomal recessive intellectual disability autosomal recessive mental retardation autosomal recessive non-syndromic intellectual disability autosomal recessive non-syndromic mental retardation intellectual disability, autosomal recessive mental retardation, autosomal recessive non-syndromic intellectual disability, autosomal recessive Editor note: misclassified in Orphanet: https://github.com/monarch-initiative/monarch-disease-ontology/issues/407 autosomal recessive non-syndromic intellectual disability MONDO:0019503 A spectrum of developmental anomalies that affect the development of the anterior segment of the eyeball resulting from abnormalities of neural crest migration and differentiation during embryologic development (Axenfeld-Rieger syndrome, Peters anomaly, posterior keratoconus, and iridoschisis). ASGD ASMD ASOD anterior segment mesenchymal dysgenesis anterior segment ocular dysgenesis familial ocular anterior segment mesenchymal dysgenesis anterior segment dysgenesis MONDO:0019504 Superior limbic keratoconjunctivitis (SLK) is a chronic and recurrent eye disease which affects thesuperior bulbar conjunctiva (the clear layer that covers the eyeball, over the sclera) and tarsal conjunctiva (the clear layer that lines the eyelids), as well as the superior limbic aspect of the cornea (the area above the cornea). It is commonly found in women 20-70 years of age. The signs and symptoms include burning, redness and irritation and tend to develop slowly over a period of 1 to 10 years.Vision usually remains intact. While the underlying cause ofSLK remains unknown, it is believed that the condition issecondary to superior bulbar conjunctiva laxity. Factors inducing conjunctiva laxity include thyroid eye disease (usually hyperthyroidism), tight upper eyelids, and prominent globes. A mimicking disorder has been encountered in soft contact lens (SCL) wearers, typically with exposure to thimerosal-preserved solutions. Treatment of SLK may involve the use of various medications, surgery, or a combination of both. SLK Theodore's superior limbic keratoconjunctivitis Theodore's syndrome Theodores superior limbic keratoconjunctivitis Theodores syndrome superior limbic keratoconjunctivitis https://rarediseases.info.nih.gov/diseases/10940/superior-limbic-keratoconjunctivitis MONDO:0019505 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome is characterised by the association of demyelinating leukodystrophy with progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia. 4H syndrome hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome MONDO:0019506 Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterised by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established. obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome MONDO:0019507 Amelogenesis imperfecta (AI) represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body. amelogenesis imperfecta https://rarediseases.info.nih.gov/diseases/5791/amelogenesis-imperfecta MONDO:0019508 Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate. VWS cleft lip/palate with mucous cysts of lower lip lip-pit syndrome LPS cleft lip and/or palate with mucous cysts of lower lip lip pit syndrome van der Woude syndrome MONDO:0019509 Cutaneous leukocytoclastic angiitis is a small-vessel vasculitis presenting with palpable purpura and urticarial lesions which predate the purpuric lesions most frequently observed on the legs. Systemic symptoms including fever, cough, hemoptysis, sinusitis, arthralgia, arthritis, myalgia, abdominal pain, diarrhea, hematochezia, paresthesia, weakness, and hematuria may be observed. Skin biopsy reveals exudates rich in neutrophils, endothelial damage, fibrin deposition, and leukocytoclasis in postcapillary venules of small vessels. Cutaneous leukocytoclastic angiitis can be idiopathic (in up to 50% of cases) or secondary to infections, medications (such as antituberculosis medication), collagen vascular diseases, or neoplasms. cutaneous hypersensitivity vasculitis cutaneous leukocytoclastic vasculitis cutaneous small vessel vasculitis cutaneous small-vessel vasculitis hypersensitivity angiitis leukocytoclastic angiitis cutaneous leukocytoclastic angiitis MONDO:0019512 A disease that has its basis in the disruption of heart development. congenital heart malformation disorder of heart development heart development disease congenital non-syndromic heart malformation rare congenital non-syndromic heart malformation congenital heart malformation MONDO:0019513 esophageal malformation MONDO:0019514 Hepatic veno-occlusive disease (hepatic VOD) is a condition resulting from toxic injury to the hepatic sinusoidal capillaries that leads to obstruction of the small hepatic veins. hepatic Vod liver veno-occlusive disease sinusoidal obstruction syndrome veno-occlusive disease hepatic veno-occlusive disease https://rarediseases.info.nih.gov/diseases/13004/hepatic-veno-occlusive-disease MONDO:0019516 Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness. Criswick-Schepens syndrome FEVR familial exudative vitreoretinopathy exudative vitreoretinopathy, familial exudative vitreoretinopathy MONDO:0019517 Waardenburg syndrome type 2 (WS2) is an autosomal dominant subtype of Waardenburg syndrome (WS), characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum. WS2 Waardenburg syndrome type 2 Waardenburg syndrome type II WS 2 WS type 2 Waardenburg syndrome type 2 https://rarediseases.info.nih.gov/diseases/5520/waardenburg-syndrome-type-2 MONDO:0019518 Waardenburg-Shah syndrome (WSS) is a neurocristopathy characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease. https://github.com/monarch-initiative/mondo/issues/5682 Shah-Waardenburg syndrome WS4 Waardenburg syndrome type 4 Waardenburg syndrome type IV Waardenburg-Hirschsprung syndrome Waardenburg-Shah syndrome Hirschsprung disease with pigmentary anomaly Waardenburg-Hirschsprung disease Waardenburg-Shah syndrome https://rarediseases.info.nih.gov/diseases/5524/waardenburg-syndrome-type-4 MONDO:0019520 A lymphedema that is part of a larger syndrome. syndrome associated with lymphedema syndromic lymphedema syndromic lymphedema MONDO:0019521 Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB), characterized by blistering which begins acrally and then progressively spreads toward the trunk. RDEB, centripetalis RDEB-Ce centripetal dystrophic epidermolysis bullosa centripetal recessive dystrophic epidermolysis bullosa centripetalis recessive dystrophic epidermolysis bullosa MONDO:0019522 Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities. RDEB generalisata mitis RDEB, generalized intermediate RDEB, non-Hallopeau-Siemens type RDEB-O RDEB-generalized other autosomal recessive dystrophic epidermolysis bullosa generalisata mitis autosomal recessive dystrophic epidermolysis bullosa, generalized other generalized mitis RDEB recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type recessive dystrophic epidermolysis bullosa, generalized intermediate recessive dystrophic epidermolysis bullosa-generalized other https://rarediseases.info.nih.gov/diseases/12794/recessive-dystrophic-epidermolysis-bullosa-generalized-other MONDO:0019524 Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II. Bartter syndrome type 4 Bartter syndrome type IV Bartter syndrome with sensorineural deafness infantile Bartter syndrome with sensorineural deafness MONDO:0019525 Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX). 48,XXXX syndrome quadruple X tetra X tetrasomy type X 48 XXXX 48 XXXX syndrome tetrasomy X https://rarediseases.info.nih.gov/diseases/7754/tetrasomy-x MONDO:0019526 Erythema elevatum diutinum (EED) is a distinctive form of chronic cutaneous vasculitis, belonging to the group of the neutrophilic dermatoses. erythema elevatum diutinum https://rarediseases.info.nih.gov/diseases/8653/erythema-elevatum-diutinum MONDO:0019527 An autoimmune disorder which does not meet classification criteria used to establish the presence of other well-defined connective tissue diseases. UCTD undifferentiated connective tissue disease undifferentiated connective tissue syndrome MONDO:0019528 Inflammatory pseudotumor (IPT) of the liver is a rare benign tumor-like lesion. https://github.com/monarch-initiative/mondo/issues/4759 IgG4-related hepatopathy inflammatory pseudotumor of the liver MONDO:0019529 A disease characterized by white matter damage to the spinal cord developed after a certain period of application of ionizing radiation. delayed radiation myelopathy radiation myelopathy radiation myelitis MONDO:0019530 A congenital condition characterized by webbing between the fingers and/or toes, joining the digits together. In rare cases, the joining of the fingers or toes may involve bony fusion between the digits. Common causes include Down Syndrome and hereditary syndactyly. https://github.com/monarch-initiative/mondo/issues/4051 nonsyndromic syndactyly chromosome 2q35 duplication syndrome isolated syndactyly symphalangism symphalangy syndactyly webbing of digits Editor note: Orphanet calls this brachydactyly, but this is implicitly the non-syndromic form due to placement in the ORDO hierarchy non-syndromic syndactyly MONDO:0019531 Haemolytic anaemia due to glutathione reductase (GSR) deficiency is characterised by nearly complete absence of GSR activity in erythrocytes. https://github.com/monarch-initiative/mondo/issues/4985 HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY hemolytic anemia due to glutathione reductase deficiency MONDO:0019532 Warm autoimmune hemolytic anemia is the most common form of autoimmune hemolytic anemia defined by the presence of warm autoantibodies against red blood cells (autoantibodies that are active at temperatures between 37-40B0C). wAHA wAIHA warm AIHA warm antibody AIHA warm antibody autoimmune hemolytic anemia warm antibody hemolytic anemia warm-reacting-antibody hemolytic anemia autoimmune hemolytic anemia, warm type MONDO:0019533 Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia (AIHA), caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures. Donath-Landsteiner hemolytic anemia Donath-Landsteiner syndrome PCH hemoglobinuria paroxysmal cold paroxysmal cold hemoglobinuria MONDO:0019534 Mixed autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA) defined by the presence of both warm and cold autoantibodies, which have a deleterious effect on red blood cells at either body temperature or at lower temperatures. mixed AIHA mixed-type autoimmune hemolytic anemia MONDO:0019535 Drug-induced autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA) that occurs as a reaction to therapeutic drugs, and can be due to various mechanisms. drug-induced AIHA drug-induced autoimmune hemolytic anemia MONDO:0019536 Typical hemolytic-uremic syndrome (typical HUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction that is usually associated with prodromal enteritis caused by Shigella dysentriae type 1 or E. Coli. D+HUS Shiga-like toxin-associated HUS Sxt-HUS hemolytic-uremic syndrome with diarrhea typical HUS D-plus hemolytic uremic syndrome (D+HUS) typical hemolytic-uremic syndrome https://rarediseases.info.nih.gov/diseases/6241/d-plus-hemolytic-uremic-syndrome-dhus MONDO:0019537 Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia). Hb-D disease hemoglobin D disease hemoglobin D disease MONDO:0019538 Polycythemia that is caused by stress. Gaisbock's syndrome polycythemia, emotional stress erythrocytosis stress polycythemia Gaisboeck's syndrome GaisböCK syndrome Pseudopolycythaemia Pseudopolycythemia Gaisbock syndrome MONDO:0019540 diffuse alveolar hemorrhage (disease) diffuse alveolar hemorrhage diffuse alveolar hemorrhage (disease) diffuse alveolar hemorrhage MONDO:0019541 non-infectious choroiditis non-infectious posterior uveitis MONDO:0019542 Rapid deterioration of liver function causing encephalopathy and coagulopathy. It results from damage to the liver parenchyma usually secondary to acetaminophen overdose or viral infections. acute hepatic failure fulminant hepatic failure acute liver failure MONDO:0019543 Acquired aneurysmal subarachnoid hemorrhage is a serious, life threatening rare neurologic disease characterized by a sudden rupture of an intracranial aneurysm into the subarachnoid space. It usually presents with a sudden, severe, excruciating headache accompanied by nausea, vomiting and syncope. Other features may include focal neurological signs, third and sixth nerve palsies, seizures and cardiac failure. Early complications include rebleeding, hydrocephalus, and seizures. acquired aneurysmal subarachnoid hemorrhage MONDO:0019544 cocaine intoxication MONDO:0019545 Systemic monochloroacetate poisoning is a rare, life-threatening intoxication with monochloroacetic acid (mainly through the skin, but also by inhalation or ingestion). It is characterized by vomiting, diarrhea and central nervous system (CNS)-excitability (disorientation, delirium, convulsions) as early signs of systemic poisoning, followed by CNS-depression, coma and cerebral edema. Additional signs include heart involvement (severe myocardial depression, shock, arrhythmias, nonspecific myocardial damage), severe metabolic acidosis, hypokalemia, hypocalcemia and progressive renal failure leading to anuria. Myoglobinemia and leukocytosis may occur. Manifestations may be delayed for 1-4 hours. systemic monochloroacetate poisoning MONDO:0019547 Wells syndrome is characterised by the presence of recurrent cellulitis-like eruptions with eosinophilia. eosinophilic cellulitis Wells' syndrome bullous cellulitis with eosinophilia Wells syndrome https://rarediseases.info.nih.gov/diseases/329/wells-syndrome MONDO:0019548 Autosomal dominant form of intermediate Charcot-Marie-Tooth disease. CMTDI autosomal dominant intermediate Charcot-Marie-Tooth disease intermediate Charcot-Marie-Tooth disease, autosomal dominant autosomal dominant intermediate Charcot-Marie-Tooth autosomal dominant intermediate Charcot-Marie-Tooth disease MONDO:0019549 A rare axonal hereditary motor and sensory neuropathy characterized by early onset (<10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop. AR-CMT2, Ouvrier type SEOAN due to MFN2 deficiency autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type severe early-onset axonal neuropathy due to MFN2 deficiency MONDO:0019550 A rare axonal hereditary motor and sensory neuropathy characterized by progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999. AR-CMT2 with acrodystrophy HMSN with acrodystrophy autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy autosomal recessive axonal Charcot-Marie-Tooth disease with acrodystrophy hereditary motor and sensory neuropathy with acrodystrophy MONDO:0019551 CMT6 Charcot-Marie-Tooth disease type 6 hereditary motor and sensory neuropathy type 6 peripheral neuropathy and optic atrophy hereditary motor and sensory neuropathy type 6 MONDO:0019552 Centrifugal lipodystrophy is a rare, acquired, localized lipodistrophy characterized by single or, occasionally, multiple, centrifugally progressive, asymptomatic to sometimes mildly tender, hypopigmented, lipoatrophic skin depressions with weakly erymatheous inflammatory borders, typically associated with regional ipsilateral lymph nodes swelling. Lesions typically occur on lower trunk (in particular groin and abdomen region), followed by upper trunk (axilla and neighboring regions) and, rarely, neck and head. It is usually not associated with systemic disease and is typically self-resolving. lipodystrophia centrifugalis abdominalis infantilis centrifugal lipodystrophy MONDO:0019553 Drug-induced localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by the appearance of asymptomatic, well-demarcated, variably sized, depressed, lipoatrophic lesions secondary to subcutaneous, intradermic or intramuscular drug injection, including corticosteroids, insulin, human growth hormone and antibiotics. Skin coloration may vary from white or hypopigmented to reddish, pinkish or violaceous. Epidermal atrophy may be also present. lipoatrophy caused by injected drug drug-induced localized lipodystrophy MONDO:0019554 Idiopathic localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by asymptomatic, well-demarcated, depressed, lipoatrophic lesions of variable size, with normal overlying skin without antecedent inflammation or a known identifiable cause (autoimmune disease, drug injection, injury, etc). idiopathic localized lipodystrophy MONDO:0019555 panniculitis-induced localized lipodystrophy panniculitis and localized lipodystrophy MONDO:0019556 Pressure-induced localized lipoatrophy is a rare, acquired, localized lipodystrophy characterized by band-like, horizontal, asymptomatic, lipoatrophic depressions with clinically normal overlying skin usually involving the anterolateral aspect of the thighs. An identifiable history of the repeated mechanical microtrauma due to occupational or postural habits is present. lipoatrophia semicircularis semicircular lipoatrophy pressure-induced localized lipoatrophy MONDO:0019557 A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative. CHLE Hutchinson lupus Editor note: ORDO classifies as genetic and has a separate subclass for familiar form chilblain lupus MONDO:0019558 A chronic, autoimmune skin condition that manifests with a red, scaling rash, most often found on the face, ears, and scalp; these lesions often lead to permanent scarring and dyspigmentation. Patients may have lesions with or without other symptoms or antibodies suggestive of systemic lupus erythematosus (SLE). DLE discoid lupus erythematosus MONDO:0019559 hypertrophic or verrucous lupus erythematosus MONDO:0019560 Tumid erythematosus lupus is considered a rare type of chronic cutaneous lupus erythematosus. Cutaneous lupus erythematosus (CLE) can be divided into acute cutaneous lupus, subacute cutaneous lupus, and chronic cutaneous lupus. Tumid erythematosus lupus is characterized by smooth, non-scarring, pink- to violet-colored pimples (papules)on the skin without any other apparent skin changes, such as scarring. Patients with tumid lupus erythematosus usually do not have other symptoms of systemic lupus erythematosus or other types of cutaneous lupus erythematosus. The papules appear on sun-exposed areas of the face, upper back, V area of the neck, trunk, and arms, and more rarely on thighs and legs. They usually affect equally both sides of the body, but may affect only one side. Normally, the papules clear without leaving scars. The treatment is very effective in most cases, and may include sun protection, anti-malarials drugs, local corticosteroids, topical tacrolimus and light therapy. intermittent cutaneous lupus let tumid lupus erythematosus lupus erythematosus tumidus https://rarediseases.info.nih.gov/diseases/13003/lupus-erythematosus-tumidus MONDO:0019561 A type of lupus erythematosus characterized by deep dermal or subcutaneous nodules, most often on the head, face, or upper arms. It is generally chronic and occurs most often in women between the ages of 20 and 45. lupus erythematosus profundus lupus panniculitis lupus profundus lupus erythematosus panniculitis MONDO:0019562 Localized scleroderma is the skin localized form of scleroderma characterized by fibrosis of the skin causing cutaneous plaques or strips. Scleroderma, circumscribed or localized circumscribed scleroderma localised morphoea localized fibrosing scleroderma localized morphea localized scleroderma localized scleroderma (disorder) [ambiguous] morphea Scleroderma, localized localized scleroderma MONDO:0019563 CREST syndrome is a subtype of limited cutaneous systemic sclerosis (lcSSc) whose name is an acronym for the cardinal clinical features of the syndrome: calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia. lcSSc calcinosis-Raynaud phenomenon-esophageal involvement-sclerodactyly-telangiectasia syndrome limited cutaneous Systemic Scleroderma limited cutaneous Systemic sclerosis CRST syndrome CRST syndromes calcinosis - Raynaud phenomenon - esophageal involvement - sclerodactyly - telangiectasia calcinosis Raynaud phenomenon sclerodactyly telangiectasia calcinosis, Raynaud's phenomenon, esophageal dismobility, sclerodactyly, telangiectasia syndrome calcinosis-Raynaud phenomenon-sclerodactyly-telangiectasia phenomenon-sclerodactyly-telangiectasia, calcinosis-Raynaud syndrome, CREST CREST syndrome MONDO:0019565 Hereditary von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N). vascular hemophilia von Willebrand disease von Willebrand disorder von Willebrand's-Jurgens' disease von Willebrand-Jurgens disease congenital von willebrand's disease hereditary von Willebrand disease hereditary von Willebrand disease (hereditary or acquired) vascular pseudohemophilia von Willebrand-Jrgens disease congenital von willebrand disease von Willebrand's disease hereditary von Willebrand disease MONDO:0019567 Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A1 gene. EDS I EDSCL1 Ehlers-Danlos syndrome, classic type, 1 Ehlers-Danlos syndrome, type 1 Ehlers-Danlos syndrome, type I type I Ehlers-Danlos syndrome Ehlers-Danlos syndrome, classic type, 1 MONDO:0019568 Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A2 gene. EDS II EDSCL2 Ehlers-Danlos syndrome, classic type, 2 EDS II, formerly Ehlers Danlos syndrome, mild Classic type Ehlers Danlos syndrome, mild Classic type, formerly Ehlers Danlos syndrome, mitis type Ehlers Danlos syndrome, mitis type, formerly Ehlers-Danlos syndrome, type Ii Ehlers-Danlos syndrome, type Ii, formerly Ehlers-Danlos syndrome, classic type, 2 MONDO:0019569 Cockayne syndrome caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8. https://github.com/monarch-initiative/mondo/issues/4521 Cockayne syndrome A Cockayne syndrome caused by mutation in ERCC8 Cockayne syndrome type 1 Cockayne syndrome type I Cockayne syndrome type a Cockayne syndrome, type A ERCC8 Cockayne syndrome CSA Cockayne syndrome classic form Cockayne syndrome classical Cockayne syndrome type A Cockayne syndrome type 1 https://rarediseases.info.nih.gov/diseases/1415/cockayne-syndrome-type-i MONDO:0019570 Cockayne syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6. https://github.com/monarch-initiative/mondo/issues/4521 Cockayne syndrome B Cockayne syndrome type 2 Cockayne syndrome type B Cockayne syndrome type II Cockayne syndrome, type B CSB Cockayne syndrome type 2 MONDO:0019571 Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement. ADCL cutis laxa, autosomal dominant autosomal dominant cutis laxa https://rarediseases.info.nih.gov/diseases/1639/cutis-laxa-autosomal-dominant MONDO:0019572 Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli). https://github.com/monarch-initiative/mondo/issues/5663 ARCL1 autosomal recessive cutis laxa type 1 autosomal recessive cutis laxa with severe systemic involvement autosomal recessive cutis laxa, pulmonary emphysema type autosomal recessive cutis laxa type I cutis laxa, autosomal recessive type 1 cutis laxa, type 1 autosomal recessive cutis laxa type 1 MONDO:0019573 A spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debre) type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS). ARCL2 cutis laxa with joint laxity and developmental delay autosomal recessive cutis laxa type 2 MONDO:0019574 Secondary intestinal lymphangiectasia is an acquired from of intestinal lymphangiectasia manifesting as a protein-losing enteropathy due to another disorder such as CrohnBs disease, congestive heart failure, sarcoidosis, Turner syndrome and often in patients who have undergone a Fontan operation. It is characterized by malabsorption, diarrhea, edema due hypoproteinemia, steatorrhea and serosal effusions. secondary intestinal lymphangiectasia MONDO:0019575 Hypotrichosis simplex of the scalp (HSS) is characterized by diffuse progressive hair loss that is confined to the scalp. hereditary hypotrichosis simplex of the scalp hypotrichosis simplex of the scalp MONDO:0019576 telangiectasia macularis eruptiva perstans MONDO:0019577 anonychia-onychodystrophy syndrome MONDO:0019578 Nodular lichen myxedematosus is a rare form of localized lichen myxedematosus characterized by the development of skin-coloured mucinous nodules on the limbs and trunk, with mild or absent papular eruption. atypical tuberous myxedema of Jadassohn-Dosseker nodular lichen myxedematosus MONDO:0019579 Discrete papular lichen myxedematosus is a rare chronic, slowly progressive form of localized lichen myxedematosus characterized by the development of a few to multiple small symmetrical skin-coloured mucinous papules on the limbs and trunk. discrete papular lichen myxedematosus MONDO:0019580 Papular mucinosis of infancy is a rare pediatric non progressive form of localized lichen myxedematosus characterized by the development of firm opalescent mucinous papules on the upper arms and the trunk. cutaneous mucinosis of infancy papular mucinosis of infancy MONDO:0019581 Acral persistent papular mucinosis is a rare chronic form of localized lichen myxedematosus characterized by the development of multiple symmetrical skin-colored mucinous papules exclusively on the extensor surface of the hands and distal forearms. acral persistent papular mucinosis MONDO:0019582 Self-healing papular mucinosis is a rare form of localized lichen myxedematosus occurring primarily in children and characterized by the development of mucinous papules on various parts of the body (face, neck, trunk, and limbs) that resolve spontaneously within some weeks to months. Systemic symptoms can be observed such as fever, arthralgias and weakness. self-healing papular mucinosis MONDO:0019583 Localized lichen myxedematosus (LM) with mixed features of different subtypes is a form of atypical lichen myxedematosus, characterized by mixed features of the 5 subtypes of localized LM which are: discrete papular LM, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and nodular LM. localized lichen myxedematosus with mixed features of different subtypes MONDO:0019584 Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms is a form of atypical lichen myxedematosus, characterized by the appearance of several 2-4 mm erythematous waxy papules confined to a few sites that may be associated with either an immunoglobulin A (IgA) nephropathy in patients with acral persistent papular mucinosis; discrete papular lichen myxedematosus; a scleromyxedema-like involvement, with dysphagia, hoarseness, pulmonary involvement, and carpal tunnel syndrome; myositis without skin sclerosis; or paraproteinemia. localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms MONDO:0019585 Scleromyxedema without monoclonal gammopathy is a form of atypical lichen myxedematosus, characterized by a generalized sclerodermoid infiltration of skin studded with multiple, firm papules of 1-3 mm in diameter involving face (leonine appearance), trunk, and limbs, without monoclonal gammopathy. The involvement of the face can be missing and pruritus may be prominent. scleromyxedema without monoclonal gammopathy MONDO:0019586 X-linked form of nonsyndromic deafness. https://github.com/monarch-initiative/mondo/issues/551 X-linked isolated neurosensory hearing loss type DFN X-linked isolated sensorineural hearing loss type DFN X-linked non-syndromic neurosensory hearing loss type DFN X-linked non-syndromic sensorineural hearing loss type DFN X-linked deafness X-linked isolated neurosensory deafness type DFN X-linked isolated sensorineural deafness type DFN X-linked non-syndromic neurosensory deafness type DFN X-linked non-syndromic sensorineural deafness type DFN X-linked nonsyndromic deafness X-linked nonsyndromic genetic deafness nonsyndromic deafness, X-linked nonsyndromic genetic deafness, X-linked ORDO classification not correct: https://github.com/monarch-initiative/monarch-disease-ontology/issues/408 X-linked nonsyndromic hearing loss MONDO:0019587 Autosomal dominant form of nonsyndromic deafness. https://github.com/monarch-initiative/mondo/issues/551 autosomal dominant deafness autosomal dominant isolated neurosensory hearing loss type DFNA autosomal dominant isolated sensorineural hearing loss type DFNA autosomal dominant non-syndromic neurosensory hearing loss type DFNA autosomal dominant non-syndromic sensorineural hearing loss type DFNA autosomal dominant nonsyndromic hearing impairment autosomal dominant isolated deafness autosomal dominant isolated neurosensory deafness type DFNA autosomal dominant isolated sensorineural deafness type DFNA autosomal dominant non-syndromic neurosensory deafness type DFNA autosomal dominant non-syndromic sensorineural deafness type DFNA autosomal dominant nonsyndromic deafness autosomal dominant nonsyndromic genetic deafness autosomal dominant nonsyndromic hearing loss and deafness deafness, autosomal dominant nonsyndromic deafness, autosomal dominant nonsyndromic genetic deafness, autosomal dominant autosomal dominant nonsyndromic hearing loss MONDO:0019588 Autosomal recessive form of nonsyndromic deafness. https://github.com/monarch-initiative/mondo/issues/551 autosomal recessive isolated neurosensory deafness type DFNB autosomal recessive isolated sensorineural deafness type DFNB autosomal recessive non-syndromic neurosensory deafness type DFNB autosomal recessive non-syndromic sensorineural deafness type DFNB autosomal recessive nonsyndromic deafness autosomal recessive nonsyndromic genetic deafness deafness, autosomal recessive deafness, neurosensory nonsyndromic recessive, DFN nonsyndromic deafness, autosomal recessive nonsyndromic genetic deafness, autosomal recessive hearing loss, autosomal recessive MONDO:0019591 Insufficient production of all the anterior pituitary hormones. Simmond's disease Simmonds' disease complete hypopituitarism panhypopituitarism MONDO:0019593 46,XX DSD induced by fetal androgens excess 46,XX disorder of sex development induced by fetal androgens excess MONDO:0019597 46,XY disorder of sex development due to isolated 17,20-lyase deficiency is a rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels. 46,XY disorder of sex development due to isolated 17,20-lyase deficiency MONDO:0019599 Primary lipodystrophies represent a heterogeneous group of very rare diseases characterized by a generalized or localized loss of body fat (lipoatrophy). primary lipodystrophy MONDO:0019600 Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV). Kaposi dermatosis Kaposi disease XP angioma pigmentosum atrophicum atrophoderma pigmentosum melanosis lenticularis progressiva pigmented epitheliomatosis xeroderma of Kaposi xeroderma pigmentosum syndrome xeroderma pigmentosa xeroderma pigmentosum https://rarediseases.info.nih.gov/diseases/7910/xeroderma-pigmentosum MONDO:0019603 Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome is characterised by severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, osteopaenia with frequent fractures, severe myopia, mild to moderate sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to first-cousin parents. No chromosomal anomalies were detected. Transmission appears to be autosomal recessive or X-linked. https://github.com/monarch-initiative/mondo/issues/5588 osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome MONDO:0019604 A rare monoclonalgammopathy characterized by renal proximal tubule dysfunction secondary to monoclonal kappa light chain deposits in proximal tubular cells. Clinical presentation is with variable chronic kidney disease, low molecular weight proteinuria, aminoaciduria, hyperphosphaturia, uricosuria, bicarbonaturia, and non-diabetic glycosuria. Renal phosphate and urate wasting may cause hypophosphatemia and hypouricaemia. acquired Fanconi syndrome secondary to monoclonal gammopathy acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome acquired monoclonal Ig light chain-associated Fanconi syndrome MONDO:0019605 Immunotactoid or fibrillary glomerulopathy is a group of very rare glomerular diseases, composed of immunotactoid glomerulopathy (ITG) and non-amyloid fibrillary glomerulopathy (non-amyloid FGP), that are characterized by mesangial deposition of monoclonal microtubular or polyclonal fibrillar deposits. Both present clinically with nephrotic range proteinuria, hematuria and renal insufficiency leading to renal failure in many cases. ITG is more likely to manifest with underlying lymphoproliferative disease, hypocomplementemia, dysproteinemia, monoclonal gammopathy or occult cryoglobulinemia. Non-amyloid FGP is 10 times more frequent than ITG. Immunotactoid or fibrillary glomerulonephritis fibrillary glomerulonephritis and immunotactoid glomerulopathy immunotactoid or fibrillary glomerulopathy https://rarediseases.info.nih.gov/diseases/12741/immunotactoid-or-fibrillary-glomerulopathy MONDO:0019606 Simple (monoclonal) cryoglobulinemia or type I cryoglobulinemia refers to the presence in the serum of one isotype or subclass of immunoglobulin (Ig) that precipitates reversibly below 37°C. cryoglobulinemia type 1 simple cryoglobulinemia MONDO:0019607 Unspecified juvenile idiopathic arthritis is a rare, pediatric, rheumatologic disease, a subtype of juvenile idiopathic arthritis (JIA) characterized by arthritis of an unknown cause that persists for at least 6 weeks, and does not fulfill the criteria for any of the other JIA subtypes, or fulfills criteria for more than one of the other subtypes. unspecified JIA unspecified juvenile idiopathic arthritis MONDO:0019608 46,XX DSD induced by maternal-derived androgen 46,XX disorder of sex development induced by maternal-derived androgen MONDO:0019609 The most severe variant seen in the peroxisome biogenesis disorders that is characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction. https://github.com/monarch-initiative/mondo/issues/2632 https://github.com/monarch-initiative/mondo/pull/2571/ ZS ZWS Zellweger spectrum disorders Zellweger syndrome cerebrohepatorenal syndrome congenital iron overload Zellweger leukodystrophy Curator note: this refers to the severe form of Zellweger spectrum, see https://github.com/monarch-initiative/mondo-build/issues/61 Zellweger spectrum disorders MONDO:0019610 Zollinger-Ellison syndrome (ZES) is characterized by severe peptic disease (ulcers/esophageal disease) caused by hypergastrinemia secondary to a gastrinoma resulting in increased gastric acid secretion. Zollinger Ellison syndrome Zollinger-Ellison syndrome Zollinger-Ellison syndrome (disease) Z E syndrome Z-E syndrome ZES gastrinoma pancreatic ulcerogenic tumor syndrome Zollinger-Ellison syndrome MONDO:0019611 A rare adenoma of the anterior lobe of the pituitary gland that produces thyrotropin. It is usually associated with goiter and hyperthyroidism. TSH producing adenoma of pituitary TSH producing adenoma of pituitary gland TSH producing adenoma of the pituitary TSH producing adenoma of the pituitary gland TSH producing pituitary adenoma TSH producing pituitary gland adenoma TSH secreting adenoma of pituitary TSH secreting adenoma of pituitary gland TSH secreting adenoma of the pituitary TSH secreting adenoma of the pituitary gland TSH secreting pituitary adenoma TSH secreting pituitary gland adenoma TSH-oma TSH-producing adenoma TSH-producing pituitary gland adenoma TSHoma pituitary thyrotrophic adenoma thyroid stimulating hormone producing adenoma of pituitary thyroid stimulating hormone producing adenoma of pituitary gland thyroid stimulating hormone producing adenoma of the pituitary thyroid stimulating hormone producing adenoma of the pituitary gland thyroid stimulating hormone producing pituitary adenoma thyroid stimulating hormone producing pituitary gland adenoma thyroid stimulating hormone secreting adenoma of pituitary thyroid stimulating hormone secreting adenoma of pituitary gland thyroid stimulating hormone secreting adenoma of the pituitary thyroid stimulating hormone secreting adenoma of the pituitary gland thyroid stimulating hormone secreting pituitary adenoma thyroid stimulating hormone secreting pituitary gland adenoma thyroid stimulating hormone-producing adenoma thyroid stimulating hormone-secreting pituitary adenoma thyrotrope adenoma thyrotroph adenoma thyrotrophic adenoma thyrotropin producing pituitary gland adenoma thyrotropinoma TSH-secreting pituitary adenoma MONDO:0019612 Functioning gonadotropic adenoma is a very rare pituitary tumor, macroscopically characterized by a soft, well vascularized, variable sized adenoma, with occasional areas of hemorrage or necrosis, that secretes biologically active gonadotropins. In addition to common neurological signs due to mass effect (headache and/or visual field deterioration), additional clinical manifestations include menstrual irregularities (secondary amenorrhea, oligomenorhea or severe menorrhagia), galactorrhea, infertility or ovarian hyperstimulation syndrome (in premenopausal women), testicular enlargement and, occasionally, hypogonadism (in men) and isosexual precocious puberty (in children). functioning pituitary gonadotropic adenoma gonadotroph adenoma functioning gonadotropic adenoma MONDO:0019613 A hormone producing or non-producing pituitary gland adenoma not associated with a hormonal syndrome. NFPA functionless adenoma of pituitary functionless adenoma of pituitary gland functionless adenoma of the pituitary functionless adenoma of the pituitary gland functionless pituitary adenoma functionless pituitary gland adenoma non-functioning adenoma of pituitary non-functioning adenoma of pituitary gland non-functioning adenoma of the pituitary non-functioning adenoma of the pituitary gland non-functioning pituitary adenoma non-functioning pituitary gland adenoma non-secretory adenoma of pituitary non-secretory adenoma of pituitary gland non-secretory adenoma of the pituitary non-secretory adenoma of the pituitary gland non-secretory pituitary adenoma non-secretory pituitary gland adenoma nonfunctional pituitary gland adenoma silent pituitary gland adenoma non-functioning pituitary adenoma MONDO:0019614 pituitary deficiency due to Rathke's cleft cysts pituitary deficiency due to Rathke's pouch cysts MONDO:0019615 pituitary dermoid and epidermoid cysts MONDO:0019617 hypopituitarism due to empty sella turcica syndrome pituitary deficiency due to empty sella turcica syndrome MONDO:0019618 An uncommon cause of hypopituitarism seen after severe postpartum hemorrhaging. Prolonged hypovolemia leads to ischemic necrosis of the pituitary. Clinical signs typically present in the puerperium and include failure to begin lactation, fatigue, hypotension and eventual amenorrhea. Clinical course is usually mild, however extreme cases may progress to adrenal failure. Prognosis is most favorable when hormone replacement is initiated soon after symptom onset. Sheehan's syndrome postpartum hypopituitarism postpartum panhypopituitarism postpartum panhypopituitary syndrome postpartum pituitary necrosis Sheehan syndrome MONDO:0019619 duplication of the esophagus MONDO:0019620 Congenital esophageal diverticulum is a rare, non-syndromic malformation of the esophagus, present at birth, and characterized by a false diverticulum, most often located in the upper, posterior esophagus. Many patients are asymptomatic, but respiratory distress, food regurgitation, dysphagia, chest pain, aspiration pneumonia and discomfort are typical presenting manifestations. https://github.com/monarch-initiative/mondo/issues/4069 congenital esophageal pouch congenital esophageal diverticulum MONDO:0019621 Chronic pneumonitis of infancy is a rare pediatric form of interstitial lung disease (ILD). CPI chronic pneumonitis of infancy MONDO:0019622 Idiopathic interstitial pneumonia characterized by chronic inflammation and fibrosis in the interstitial lung tissue. It includes cases that cannot be classified into one of the other types of idiopathic interstitial pneumonia. NSIP non-specific idiopathic interstitial pneumonia nonspecific interstitial pneumonia non-specific interstitial pneumonia MONDO:0019623 Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain. HAE HANE familial angioneurotic edema hereditary angioedema hereditary angioneurotic edema hereditary bradykinine-induced angioedema hereditary non histamine-induced angioedema angioedema, hereditary deficiency of C1 esterase inhibitor hereditary angioedema MONDO:0019624 Acquired angioedema (AAE) is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain due to an acquired C1 inhibitor (C1-INH) deficiency. AAE acquired C1 inhibitor deficiency acquired angioedema acquired angioneurotic edema acquired bradykinine-induced angioedema acquired non histamine-induced angioedema angioedema, acquired acquired angioedema https://rarediseases.info.nih.gov/diseases/8605/acquired-angioedema MONDO:0019625 A rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture. Erdheim disease FTAAD familial TAAD familial aortic dissection familial thoracic aortic aneurysm and aortic dissection Erdheim cystic medial necrosis of aorta annuloaortic ectasia cystic medial necrosis of aorta familial aortic aneurysm familial thoracic aortic aneurysm familial thoracic aortic aneurysm and dissection familial thoracic aortic aneurysm and aortic dissection MONDO:0019626 Isolated ankyloblepharon filiforme adnatum (AFA) is characterised by the presence of single or multiple thin bands of connective tissue between the upper and lower eyelids, preventing full opening of the eye. Several cases have been reported. It can occur sporadically or following an autosomal dominant transmission pattern. In some cases, AFA can be associated with other disorders, such as trisomy 18. The bands should be removed to avoid amblyopia and this can easily be performed in the neonatal period by cutting with tissue scissors. isolated ankyloblepharon filiforme adnatum MONDO:0019627 Congenital alacrima is characterised by deficient lacrimation (ranging from a complete absence of tears to hyposecretion of tears) that is present from birth. https://github.com/monarch-initiative/mondo/issues/4069 nonsyndromic congenital alacrima isolated congenital alacrima MONDO:0019628 Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of AxenfeldBs anomaly. Rieger anomaly MONDO:0019629 A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea. sclerocornea (disease) isolated congenital sclerocornea sclerocornea sclerocornea (disease) sclerocornea MONDO:0019630 Congenital ectropion uveae is a rare, genetic, non-syndromic developmental defect of the eye characterized by the presence of iris pigment epithelium on the anterior surface of the iris, anterior insertion of the iris, angle dysgenesis and progressive open-angle glaucoma (the latter may present in infancy or may develop later in life). Patients may manifest with headaches, ocular pain, photophobia, and redness, watering and/or swelling of the eye. It can often be associated with neurofibromatosis and less commonly with other ocular abnormalities. https://github.com/monarch-initiative/mondo/issues/4069 congenital ectropion uveae MONDO:0019631 A developmental ocular anomaly in which the primary vitreous body and its surrounding hyaloid vasculature failed to regress. It is usually unilateral and characterized by cataract; microphthalmos (small eyeballs), and retrolenticular fibrovascular tissue. (from Yanoff: Ophthalmology, 2nd ed.) PFVS PHPV congenital retinal detachment ncRNA disease non-syndromic congenital retinal non-attachment persistent fetal vasculature syndrome persistent hyperplastic primary vitreous MONDO:0019632 Lyme disease (named after the towns in the USA where the disease was first identified) is a bacterial infection caused by Borrelia burgdorferi. Bannwarth syndrome Bannworth's syndrome Borrelia Borrelia burgdorferi infection Borreliella burgdorferi caused disease or disorder Borreliella burgdorferi disease or disorder Borreliella burgdorferi infectious disease Lyme borreliosis Lyme disease Lyme neuroborreliosis neuroborreliosis neurological Lyme disease Lyme disease MONDO:0019633 Relapsing fever is an infection caused by bacteria of the genus Borrelia, excluding those responsible for Lyme disease belonging to the Borrelia burgdorferi complex. relapsing fever MONDO:0019634 Familial nasal acilia is a rare genetic otorhinolaryngologic disease characterized by respiratory morbidity due to lack of cilia on the respiratory tract epithelial cells. The disease manifests from birth with respiratory distress, neonatal pneumonia, dyspnea, lobar atelectasis and bronchiectasis. Recurrent infections of the upper and lower respiratory tract, chronic humid coughing, and chronic sinusitis, otitis and rhinitis are typical lifelong presenting conditions. familial nasal acilia https://rarediseases.info.nih.gov/diseases/2254/familial-nasal-acilia MONDO:0019635 A primary esophageal motor disorder characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter (LES) relaxation in response to deglutition. https://github.com/monarch-initiative/mondo/issues/4055 achalasia cardia idiopathic achalasia of esophagus primary achalasia idiopathic achalasia MONDO:0019636 Unilateral renal agenesis (URA) is a form of renal agenesis characterized by the complete absence of development of one kidney accompanied by an absent ureter. congenital single kidney congenital solitary kidney unilateral renal agenesis renal agenesis, unilateral MONDO:0019637 Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia, respectively) have a deficit in the number of nephrons and may be small. Oligomeganephronia represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied. renal hypoplasia (disease) renal hypoplasia renal hypoplasia (disease) renal hypoplasia MONDO:0019638 Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral, segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia. renal dysplasia (disease) renal dysplasia renal dysplasia (disease) renal dysplasia MONDO:0019639 Congenital megacalycosis is a rare renal malformation, characterized by non-obstructive dilation of the renal calyces as well as an increased calyceal number (12-20), with a normal renal pelvis, ureter, and bladder. It may be unilateral or bilateral and is usually asymptomatic unless complicated by nephrolithiasis and urinary tract infection. https://github.com/monarch-initiative/mondo/issues/4069 congenital megacalycosis MONDO:0019640 Posterior urethral valve (PUV) is the most common anomaly of fetal lower urinary tract obstruction (LUTO) and is characterized by an abnormal congenital obstructing membrane that is located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying. PUV congenital posterior urethral valves Posterior urethral valves posterior urethral valve MONDO:0019641 Pauci-immune glomerulonephritis (GN) is one of the most frequent causes of rapidly progressive GN (RPGN). It is characterized clinically by renal manifestations of RPGN (hematuria, hypertension) leading to renal failure within days or weeks, and may be associated with manifestations of systemic vasculitis (arthralgia, fever, seizures, mono neuritis and lung involvement). Pauci-immune GN is histologically characterized by focal necrotizing and crescentic GN, with mild or absent glomerular staining for immunoglobulin and complement by fluorescence microscopy, which may manifest either as part of a systemic small vessel vasculitis (including microscopic polyangiitis, granulomatosis with polyangiitis and eosinophilic granulomatosis with polyangiitis), or rarely as part of renal-limited vasculitis (RLV, idiopathic crescentic GN). Immunologic classification is based on the presence or absence of circulating anti-neutrophil cytoplasmic antibodies (ANCAs), namely pauci-immune-GN with ANCA and pauci-immune GN without ANCA. pauci-immune glomerulonephritis MONDO:0019642 Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia. HVDRR VDDR II VDDR2 VDRR II hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal Vitamin D receptor hereditary vitamin D-resistant rickets hypocalcemic vitamin D-resistant rickets vitamin D dependent rickets 2 vitamin D receptor deficiency vitamin D-dependent rickets type II vitamin D-dependent rickets, type 2 vitamin D-resistant rickets type II Editor note: ORDO uses dependent-vs-resistant to name types 2 and 1. NCIT seems to confuse type 2 with type 2A vitamin D-dependent rickets, type 2 MONDO:0019643 Transient pseudohypoaldosteronism is a renal tubulopathy characterized by renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis and hyperkalemia and manifesting as dehydration, secondary to urinary tract malformation and infections in infants. TPHA transient pseudohypoaldosteronism MONDO:0019644 Unilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD. unilateral renal dysplasia renal dysplasia, unilateral MONDO:0019645 Bilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD. bilateral renal dysplasia renal dysplasia, bilateral MONDO:0019646 https://github.com/monarch-initiative/mondo/issues/4069 unilateral congenital megacalycosis MONDO:0019647 https://github.com/monarch-initiative/mondo/issues/4069 congenital bilateral megacalycosis MONDO:0019648 Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2. achondrogenesis https://rarediseases.info.nih.gov/diseases/2882/achondrogenesis MONDO:0019649 idiopathic steroid-sensitive nephrotic syndrome with focal segmental glomerulosclerosis idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis MONDO:0019650 steroid-sensitive MCNS idiopathic steroid-sensitive nephrotic syndrome with minimal change MONDO:0019651 idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation MONDO:0019652 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation MONDO:0019653 familial idiopathic steroid-resistant nephrotic syndrome with minimal changes MONDO:0019654 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis MONDO:0019655 sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis MONDO:0019656 sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis MONDO:0019659 Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development. Pfeiffer syndrome type 1 classic Pfeiffer syndrome Pfeiffer syndrome type 1 MONDO:0019660 Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities. Pfeiffer syndrome type 2 MONDO:0019661 Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities. Pfeiffer syndrome type 3 MONDO:0019662 short rib-polydactyly syndrome type 2 SRPS type 2 polydactyly with neonatal chondrodystrophy type 2 short rib-polydactyly syndrome Majewski type short rib-polydactyly syndrome, Majewski type MONDO:0019665 Fibrous dysplasia of bone involving only one bone. monostotic fibrous dysplasia (disease) Jaffe-Lichtenstein disease monostotic fibrous dysplasia monostotic fibrous dysplasia (disease) monostotic fibrous dysplasia of bone monostotic fibrous dysplasia MONDO:0019666 A spondyloepimetaphyseal dysplasia characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5280 brachyolmia 4 with mild epiphyseal and metaphyseal changes spondyloepimetaphyseal dysplasia Pakistani type spondyloepimetaphyseal dysplasia, Pakistani type BCYM4 SEMD, Pakistani type brachyolmia type 4 with mild epiphyseal and metaphyseal changes spondylodysplasia and premature pubarche spondyloepimetaphyseal dysplasia, PAPSS2 type MONDO:0019667 Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest. spondyloepiphyseal dysplasia tarda MONDO:0019668 pancreatic adenoma adenoma of the pancreas adenoma of pancreas MONDO:0019669 hypochondrogenesis MONDO:0019670 Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone. congenital longitudinal deficiency of the ulna ulnar clubhand ulnar longitudinal meromelia ulnar hemimelia MONDO:0019671 Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius. congenital longitudinal deficiency of the radius radial clubhand radial longitidinal meromelia radial ray agenesis radial hemimelia MONDO:0019672 Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone. congenital longitudinal deficiency of the fibula fibular longitudinal meromelia fibular hemimelia MONDO:0019673 postaxial polydactyly type A (disease) PAPA postaxial polydactyly type A postaxial polydactyly type A (disease) postaxial polydactyly type A MONDO:0019674 https://github.com/monarch-initiative/mondo/issues/5507 PAPB postaxial polydactyly type B MONDO:0019675 A form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility, and progressive spinal malalignment. https://github.com/monarch-initiative/mondo/issues/5280 SEMD-JL SEMDJL spondyloepimetaphyseal dysplasia with joint laxity SEMDJL1 spondyloepimetaphyseal dysplasia with joint laxity type 1 spondyloepimetaphyseal dysplasia with joint laxity, Beighton type spondyloepimetaphyseal dysplasia joint laxity spondyloepimetaphyseal dysplasia with joint laxity MONDO:0019676 A condition characterized by incomplete development (hypoplasia) or absence of the outermost bones of the fingers and toes (distal phalanges) and nails. Additional features may include hypoplasia of the middle phalanges, fusion of the joints (symphalangism), broad thumbs, and webbed fingers (syndactyly). The feet are often less severely affected than the hands. There are 2 types of this condition, designated as type 1 and 2. BDB type 1 is caused by mutations in the ROR2 gene. BDB type 2 is caused by mutations in the NOG gene. Inheritance of both types is autosomal dominant. Treatment may include surgery if the condition affects hand function, or for cosmetic reasons. https://github.com/monarch-initiative/mondo/issues/3709 brachydactyly type B MONDO:0019677 Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short. type E brachydactyly brachydactyly type E MONDO:0019678 Brachydactyly type A5 (BDA5) is a very rare congenital malformation of the digits characterized by absence of the middle phalanges (usually of digits 2 to 5), nail dysplasia and duplicated terminal phalanx of the thumb. absent middle phalanges of digits 2-5 with nail dysplasia brachydactyly type A5 nail dysplasia brachydactyly with absence of middle phalanges and hypoplastic nails brachydactyly type A5 https://rarediseases.info.nih.gov/diseases/982/brachydactyly-type-a5 MONDO:0019679 Brachydactyly type A7 (Smorgasbord type) is a form of brachydactyly that presents with the characteristic features of brachydactyly type A2 (shortening of the middle phalanges of the index finger and, sometimes, of the little finger) and type D (shortening of the distal phalanx of the thumb) plus various additional features. brachydactyly, Smorgasbord type brachydactyly Smorgasbord type brachydactyly type A7 https://rarediseases.info.nih.gov/diseases/984/brachydactyly-type-a7 MONDO:0019680 Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical generalized metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign. genochondromatosis type 2 MONDO:0019681 dysmorphic sialidosis, juvenile form juvenile sialidosis type 2 MONDO:0019682 congenital sialidosis type 2 MONDO:0019685 https://github.com/monarch-initiative/mondo/issues/4948 FGFR3-related chondrodysplasia MONDO:0019688 https://github.com/monarch-initiative/mondo/issues/4948 inborn error of sulphation sulphation disorder sulfation-related bone disorder MONDO:0019689 https://github.com/monarch-initiative/mondo/issues/4948 perlecan-related bone disorder MONDO:0019690 https://github.com/monarch-initiative/mondo/issues/4948 bone filaminopathy filamin-related bone disorder MONDO:0019691 https://github.com/monarch-initiative/mondo/issues/4948 SRP short-rib dysplasia (with or without polydactyly) ciliopathies with major skeletal involvement short rib dysplasia MONDO:0019692 https://github.com/monarch-initiative/mondo/issues/4948 multiple epiphyseal dysplasia and pseudoachondroplasia MONDO:0019693 https://github.com/monarch-initiative/mondo/issues/4948 multiple metaphyseal dysplasia MONDO:0019694 spondylodysplastic dysplasia MONDO:0019695 https://github.com/monarch-initiative/mondo/issues/4948 acromelic dysplasia MONDO:0019696 A group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type https://github.com/monarch-initiative/mondo/issues/4948 acromesomelic dwarfism acromesomelic dysplasia MONDO:0019697 https://github.com/monarch-initiative/mondo/issues/4948 mesomelic and rhizo-mesomelic dysplasia MONDO:0019698 https://github.com/monarch-initiative/mondo/issues/4948 campomelic dysplasia and related disorders bent bone dysplasia MONDO:0019699 slender bone dysplasia MONDO:0019701 A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis. https://github.com/monarch-initiative/mondo/issues/4948 CDP chondrodysplasia calcificans congenita chondrodysplasia punctata (stippled epiphyses) Group chondrodysplasia punctata congenita chondrodysplasia punctata MONDO:0019702 https://github.com/monarch-initiative/mondo/issues/4948 neonatal osteosclerotic dysplasia MONDO:0019707 https://github.com/monarch-initiative/mondo/issues/4948 primary osteolysis MONDO:0019712 https://github.com/monarch-initiative/mondo/issues/4948 patellar dysostosis MONDO:0019713 https://github.com/monarch-initiative/mondo/issues/4948 non-syndromic limb hypoplasia nonsyndromic limb reduction defect isolated limb reduction defect non-syndromic limb reduction defect MONDO:0019714 nonsyndromic polydactyly, syndactyly and/or hyperphalangy isolated polydactyly, syndactyly and/or hyperphalangy non-syndromic polydactyly, syndactyly and/or hyperphalangy MONDO:0019716 A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome. overgrowth syndrome MONDO:0019718 lethal chondrodysplasia MONDO:0019719 A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux. CAKUT congenital anomalies of kidney and urinary tract congenital anomalies of the kidney and urinary tract congenital anomaly of kidney and urinary tract renal or urinary tract malformation congenital anomaly of kidney and urinary tract MONDO:0019720 A renal or urinary tract malformation that is not part of a larger syndrome. isolated congenital anomaly of kidney and urinary tract nonsyndromic congenital anomaly of kidney and urinary tract nonsyndromic renal or urinary tract malformation isolated renal or urinary tract malformation non-syndromic renal or urinary tract malformation MONDO:0019722 A disease involving the renal glomerulus. disease of renal glomerulus disease or disorder of renal glomerulus disorder of renal glomerulus glomerulopathy renal glomerulus disease renal glomerulus disease or disorder glomerulopathies glomerular disorder MONDO:0019723 basement membrane disease disease of glomerular basement membrane MONDO:0019724 Secondary glomerular diseases are conditions with glomerular pathology in which an underlying cause can be established. secondary glomerular disease MONDO:0019725 SLE, pediatric onset pediatric systemic lupus erythematosus MONDO:0019726 Type II mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins composed of polyclonal IgGs (autoantigens) and monoclonal IgM (autoantibody). MC type II type II mixed cryoglobulinemia MONDO:0019727 Type III mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins containing both polyclonal IgGs and polyclonal IgMs. MC type III mixed cryoglobulinemia type III MONDO:0019728 HCDD heavy chain deposition disease MONDO:0019729 LHCDD light and heavy chain deposition disease MONDO:0019730 Light chain deposition disease (LCDD) is a rare condition characterized by the deposition of specific proteins (monoclonal light chains) in the kidneys and other organs. Light chains are used to make antibodies that the body needs to fight infection. People with LCDD make too many light chains, which get deposited in many body tissues. While LCDD can occur in any organ, the kidneys are always involved. Signs and symptoms of LCDD may include protein in the urine ; decreased kidney function; and/or nephrotic syndrome. Rarely, a person with LCDD may have symptoms from cardiac (heart) or liver involvement. The underlying cause of LCDD is unknown. It is often associated with multiple myeloma. LCDD may progress to multiple myeloma, or it may be present with multiple myeloma when it is first diagnosed. The goal of treating LCDD is to slow the production of light chains and their damage to organs. Treatment may include chemotherapy with a drug called Bortezomib ; autologous stem cell transplantation ; immunomodulatory drugs; and/or kidney transplant. If untreated, end-stage renal disease occurs in 70% of cases. Bence Jones myeloma LCDD Light chain disease Light chain gammopathy Light-chain deposition disease light chain deposition disease https://rarediseases.info.nih.gov/diseases/6906/light-chain-deposition-disease MONDO:0019731 apolipoprotein A-I amyloidosis familial amyloid nephropathy due to apolipoprotein A-I variant familial renal amyloidosis due to apolipoprotein A-I variant hereditary amyloid nephropathy due to apolipoprotein A-I variant hereditary renal amyloidosis due to apolipoprotein A-I variant AApoAI amyloidosis MONDO:0019732 familial amyloid nephropathy due to lysozyme variant familial renal amyloidosis due to lysozyme variant hereditary amyloid nephropathy due to lysozyme variant hereditary renal amyloidosis due to lysozyme variant lysozyme amyloidosis ALys amyloidosis MONDO:0019733 familial amyloid nephropathy due to fibrinogen A alpha-chain variant fibrinogen A alpha-chain amyloidosis hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant hereditary renal amyloidosis due to fibrinogen A alpha-chain variant AFib amyloidosis MONDO:0019734 An idiopathic inflammatory myopathy of childhood resulting in muscle weakness. JPM juvenile PM juvenile polymyositis https://rarediseases.info.nih.gov/diseases/12742/juvenile-polymyositis MONDO:0019735 A syndrome characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck. There is no muscle atrophy and muscle biopsies do not reveal pathologic changes. Additional signs and symptoms include low grade fever, fatigue and depression. polymyalgia rheumatica rhizomelic pseudopolyarthritis polymyalgia rheumatica MONDO:0019736 Dense deposit disease, a histological subtype of MPGN is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen. Mesangiocapillary glomerulonephritis type 2 membranoproliferative glomerulonephritis type 2 MPGN 2 glomerulonephritis membranoproliferative type 2 membranoproliferative glomerulonephritis type II dense deposit disease MONDO:0019737 The syndromes of microangiopathic hemolytic anemia, thrombocytopenia, and variable signs of organ impairment, due to platelet aggregation in the microcirculation. thrombotic microangiopathy MONDO:0019738 D-HUS with H factor anomaly aHUS with H factor anomaly atypical HUS with H factor anomaly hemolytic-uremic syndrome without diarrhea with H factor anomaly atypical hemolytic-uremic syndrome with H factor anomaly MONDO:0019739 D-HUS with anti-factor H antibodies aHUS with anti-factor H antibodies atypical HUS with anti-factor H antibodies hemolytic-uremic syndrome without diarrhea with anti-factor H antibodies atypical hemolytic-uremic syndrome with anti-factor H antibodies MONDO:0019740 Acquired thrombotic thrombocytopenic purpura is the non-hereditary form of thrombotic thrombocytopenic purpura (TTP), characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity. TTP purpura, thrombotic thrombocytopenic acquired ADAMTS13 deficiency acquired TTP acquired thrombotic thrombocytopenic purpura autoimmune thrombotic thrombocytopenic purpura Moschowitz syndrome idiopathic thrombotic thrombocytopenic purpura acquired thrombotic thrombocytopenic purpura MONDO:0019741 An instance of cystic kidney disease that is caused by an inherited modification of the individual's genome. hereditary cystic kidney disease familial cystic renal disease MONDO:0019742 https://github.com/monarch-initiative/mondo/issues/4985 late-onset nephronophthisis MONDO:0019743 nephropathy secondary to a storage or other metabolic disease MONDO:0019745 https://github.com/monarch-initiative/mondo/issues/4985 cystinuria type A MONDO:0019746 https://github.com/monarch-initiative/mondo/issues/4985 cystinuria type B MONDO:0019751 A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease. Editor note: todo - investigate diseases that have autoinflammatory and autommune components, e.g. IBD, Ankylosing Spondylitis, Axial Spondyloarthropathy, perhaps adult Onset Still's Disease. Consider disjointness axiom autoinflammatory syndrome MONDO:0019752 Pediatric Castleman disease (PCD) is a form of Castleman disease (CD) with a predominant occurrence in teenagers which is either asymptomatic or manifest by systemic (such as fever, anemia, fatigue and failure to thrive) or compressive symptoms. pediatric Castleman disease MONDO:0019753 Localized Castleman disease (LCD) is the most common form of Castleman disease (CD) and it is usually asymptomatic or it may present with enlarged lymph nodes. LCD may be cured by surgical resection. localized Angiofollicular lymphoid hyperplasia localized Castleman disease Unicentric Castleman disease Unicentric angiofollicular ganglionic hyperplasia Unicentric angiofollicular lymph hyperplasia localized Castleman disease MONDO:0019754 Multicentric castleman disease (MCD) is an aggressive form of Castleman disease that mostly results from human herpesvirus 8 (HHV8) infection. It manifests by fever, diffuse lymphadenopathy, hepatosplenomegaly, Involvement of the respiratory system and increased C-reactive protein. HHV-8-associated multicentric Castleman disease Human herpesvirus-8-associated multicentric Castleman disease MCD PMCD multicentric Angiofollicular lymphoid hyperplasia multicentric Castleman's disease multicentric giant lymph node hyperplasia plasmablastic multicentric Castleman disease idiopathic multicentric Castleman's disease multicentric plasma cell variant of Castleman's disease multicentric Castleman disease MONDO:0019755 A disease that has its basis in the disruption of embryonic morphogenesis. congenital malformation syndrome developmental defect during embryogenesis disorder of embryonic morphogenesis embryonic morphogenesis disease malformation syndrome rare developmental defect during embryogenesis developmental defect during embryogenesis MONDO:0019756 Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally. lobar holoprosencephaly MONDO:0019757 Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE) characterized by a single brain ventricle and no interhemispheric fissure. alobar holoprosencephaly MONDO:0019758 Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter. MIH MIH type HPE MIHF MIHV Syntelencephaly middle interhemispheric fusion variant middle interhemispheric variant of holoprosencephaly midline interhemispheric variant of holoprosencephaly MONDO:0019759 Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra. https://github.com/monarch-initiative/mondo/issues/3650 epispadias (disease) epispadias epispadias (disease) epispadias MONDO:0019760 congenital limb amputation terminal transverse defects of arm MONDO:0019761 Laryngo-tracheo-esophageal cleft (LC) type 1 is a congenital respiratory tract anomaly characterized by a supraglottic, interarytenoid cleft above the vocal folds with moderate respiratory symptoms. LTEC I LTEC1 laryngo-tracheo-esophageal cleft type 1 laryngotracheoesophageal cleft type 1 MONDO:0019762 Laryngo-tracheo-esophageal cleft (LC) type 2 is a congenital respiratory tract anomaly characterized by a cleft extending below the vocal folds into the cricoid cartilage, with swallowing disorders and lung infections. LTEC II LTEC2 laryngo-tracheo-esophageal cleft type 2 laryngotracheoesophageal cleft type 2 MONDO:0019763 Laryngo-tracheo-esophageal cleft (LC) type 3 is a congenital respiratory tract anomaly characterized by a cleft extending through the cricoid cartilage, sometimes into the cervical trachea, with severe swallowing disorders, lung infections and pulmonary damage. LTEC III LTEC3 laryngo-tracheo-esophageal cleft type 3 laryngotracheoesophageal cleft type 3 MONDO:0019764 Laryngo-tracheo-esophageal cleft (LC) type 4 is a serious congenital respiratory tract anomaly characterized by a cleft extending into the thoracic trachea and possibly down to the carina, with respiratory distress. LTEC IV LTEC4 laryngo-tracheo-esophageal cleft type 4 laryngotracheoesophageal cleft type 4 MONDO:0019765 Celosomia MONDO:0019766 X-linked intellectual disability, Porteous type MONDO:0019767 Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome. hamel cerebro-palato-cardiac syndrome MONDO:0019768 Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome. X-linked intellectual disability, Golabi-Ito-hall type MONDO:0019769 X-linked intellectual disability, Sutherland-Haan type MONDO:0019770 X-linked dominant intellectual disability-epilepsy syndrome MONDO:0019771 Oromandibular dystonia (OMD) is a form of focal dystonia, affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles. oromandibular dystonia MONDO:0019772 Blepharospasm-oromandibular dystonia, also called Meige dystonia or Meige syndrome is a focal dystonia involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia. Meige dystonia Meige syndrome Brueghel syndrome Meige's syndrome blepharospasm - oromandibular dystonia blepharospasm-oromandibular dystonia idiopathic blepharospasm-oromandibular dystonia syndrome oral facial dystonia segmental cranial dystonia blepharospasm-oromandibular dystonia syndrome MONDO:0019773 Myelomeningocele is the most severe form of spina bifida. It happens when parts of the spinal cord and nerves come through the open part of the spine. It causes nerve damage and other disabilities. Seventy to ninety percent of children with this condition also have too much fluid on their brains (hydrocephalus). This happens because fluid that protects the brain and spinal cord is unable to drain like it should. The fluid builds up, causing pressure and swelling. Without treatment, a persons head grows too big, and theymay have brain damage. Other disorders of the spinal cord may be seen, including syringomyelia and hip dislocation. The cause of myelomeningocele is unknown. However, low levels of folic acid in a woman's body before and during early pregnancy is thought to play a part in this type of birth defect. meningomyelocele myelomeningocele https://rarediseases.info.nih.gov/diseases/3475/myelomeningocele MONDO:0019780 A congenital malformation of the external ear and the most extreme form of microtia characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development. anotia MONDO:0019781 A tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, and subependymal giant cell astrocytoma. astrocytoma This class denotes astrocytomas proper which excludes GBM. See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/23 astrocytoma (excluding glioblastoma) MONDO:0019782 humero-ulnar fusion humero-ulnar synostosis MONDO:0019783 Neovascular glaucoma is the most common type of secondary glaucoma, usually caused by diabetic retinopathy, central retinal vein occlusion and carotid artery obstruction but sometimes by trauma, uvietis or ocular tumors, and characterized by severe eye pain, synechial angle glaucoma, high intraocular pressure and leading to loss of vision. secondary angle-closure glaucoma with rubeosis neovascular glaucoma MONDO:0019784 12q14 microdeletion syndrome is characterised by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis. https://github.com/monarch-initiative/mondo/issues/3664 Del(12)(q14) deletion 12q14 monosomy 12q14 osteopoikilosis-short stature-intellectual disability syndrome 12q14 microdeletion syndrome https://rarediseases.info.nih.gov/diseases/13390/12q14-microdeletion-syndrome MONDO:0019786 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterised by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in to chromosome regions, one localised to chromosome 1 and the other to chromosome 14. https://github.com/monarch-initiative/mondo/issues/5588 severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia MONDO:0019787 Severe-immune mediated enteropathy describes a variety of intestinal disorders that can range from a serious, early-onset systemic disease (IPEX) to a mild isolated gastrointestinal disease. In children it manifests with severe diarrhea and dehydration in the presence of characteristic antibodies (anti-enterocyte and anti-goblet cell) and in adults with chronic diarrhea, malabsorption and weight loss. immune-mediated protracted diarrhea of infancy severe immune-mediated enteropathy autoimmune enteropathy MONDO:0019788 Non-functioning paraganglioma is a rare neuroendocrine tumor arising from neural crest-derived paraganglion cells (most often in the para-aortic region at the level of renal hilia, organ of Zuckerkandl, thoracic paraspinal region, bladder, and carotid body) not associated with catecholamine secretion. These tumors are usually clinically silent and symptoms, if present, are nonspecific and depend on the location of the tumor. Association with certain hereditary cancer-predisposing syndromes, such as multiple endocrine neoplasia, neurofibromatosis type 1 or von Hippel Lindau syndrome, may be observed. non-functioning paraganglioma non-secreting paraganglioma MONDO:0019789 Cytophagic histiocytic panniculitis (CHP) is a very rare form of panniculitis manifesting as recurrent multiple subcutaneous nodules (which may progressively become ecchymotic and ulcerated), and histologically characterized by lobular panniculitis with lymphocytic and histiocytic infiltration in the subcutaneous adipose tissue. CHP Winkelmann cytophagic panniculitis cytophagic histiocytic panniculitis MONDO:0019790 Neuroleptic malignant syndrome (NMS) is an idiosyncratic condition associated with administration of antipsychotic and other central dopaminergic blockers, and characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness. NMS neuroleptic malignant syndrome https://rarediseases.info.nih.gov/diseases/7195/neuroleptic-malignant-syndrome MONDO:0019791 MIRAS recessive mitochondrial ataxia syndrome MONDO:0019792 Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement. ADCA1 ADCAI autosomal dominant cerebellar ataxia type 1 cerebellar plus syndrome autosomal dominant cerebellar ataxia type I MONDO:0019793 Autosomal dominant cerebellar ataxia (ACDA) type III is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31. ADCA3 ADCAIII Pure cerebellar syndrome-mild pyramidal signs syndrome autosomal dominant cerebellar ataxia type 3 autosomal dominant cerebellar ataxia type III autosomal dominant cerebellar ataxia type III MONDO:0019794 ADCA4 ADCAIV autosomal dominant cerebellar ataxia type 4 autosomal dominant cerebellar ataxia type IV autosomal dominant cerebellar ataxia type IV MONDO:0019795 Acalvaria is a rare malformation defined as missing scalp and flat bones over an area of the cranial vault. The size of the affected area is variable. In rare cases, acalvaria involves the whole of the dome-like superior portion of the cranium comprising the frontal, parietal, and occipital bones. Dura mater and associated muscles are absent in the affected area but the central nervous system is usually unaffected, although some neuropathological abnormality is often present (e.g. holoprosencephaly or gyration anomalies). Skull base and facial bones are normal. Acrania primary acalvaria acalvaria https://rarediseases.info.nih.gov/diseases/361/acalvaria MONDO:0019796 Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations. ACS acrocephalosyndactylia acrocephalosyndactyly acrocephalosyndactyly MONDO:0019797 Acrodysostosis (ACRDYS) is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay. Arkless-Graham syndrome Maroteaux-Malamut syndrome acrodysplasia nasal hypoplasia-peripheral dysostosis-intellectual disability syndrome peripheral dysostosis-nasal hypoplasia-intellectual disability (PNM) syndrome acrodysostosis https://rarediseases.info.nih.gov/diseases/5724/acrodysostosis MONDO:0019799 A very rare form of chronic hepatic porphyria characterized by bullous photodermatitis. https://github.com/monarch-initiative/mondo/issues/5128 https://github.com/monarch-initiative/mondo/issues/5507 HEP hepatoerythropoietic porphyria MONDO:0019800 Chronic hepatic porphyrias represent a sub-group of porphyrias. They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare). acute hepatic porphyria, chronic chronic acute hepatic porphyria chronic hepatic porphyria MONDO:0019801 Acute adrenal insufficiency (AAI) is a rare but severe condition caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency, thus the rapid recognition and prompt therapy are critical for survival even before the diagnosis is made. Addisonian crisis acute adrenal failure acute adrenocortical insufficiency adrenal crisis adrenocortical crisis acute adrenal insufficiency MONDO:0019802 Secondary short bowel syndrome is an intestinal failure caused by any condition that results in a functional small intestine of less than 200 cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility. secondary short bowel syndrome MONDO:0019803 Angioma serpiginosum (AS) is a benign congenital skin disease characterised by progressive dilation of the subepidermal skin vessels manifesting as purple punctate lesions usually appearing on the lower limbs and buttocks and following the lines of Blaschko. angioma serpiginosum of skin angioma serpiginosum MONDO:0019804 Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months. congenital major airway collapse congenital tracheomalacia tracheomalacia, congenital type 1 tracheomalacia tracheomalacia MONDO:0019805 Twin twin transfusion syndrome (TTTS) is a rare condition seen in twin monochorionic pregnancies, typically developing during the 15-26 week gestation period and usually due to unbalanced intertwin placental anastomoses, where an unequal exchange of blood between twins causes oligohydramnios in one sac and polyhydramnios in the other which can lead to a high perinatal mortality rate and a high rate of disability in survivors if left untreated Feto-fetal transfusion syndrome Twin to twin transfusion Twin-Twin transfusion syndrome Twin-to-twin blood transfer fetal blood loss from fetal hemorrhage into co-twin fetal hemorrhage into co-twin placental transfusion syndrome stuck Twin syndrome twin-to-twin transfusion syndrome Fetofetal transfusion syndrome TTTS fetal transfusion syndrome twin to twin transfusion syndrome MONDO:0019806 Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA). https://github.com/monarch-initiative/mondo/issues/5507 Mesulam syndrome PPA primary progressive aphasia syndrome primary progressive aphasia MONDO:0019807 mesocardia (disease) Midline heart mesocardia mesocardia (disease) mesocardia MONDO:0019808 A rare congenital heart defect characterized by the complete failure of the aortic valve to open. It is manifested during infancy with cyanosis, dyspnea, and rapidly progressing heart failure. aortic valve atresia (disease) aortic valve atresia aortic valve atresia (disease) congenital aortic valve atresia congenital atresia of aortic valve aortic valve atresia MONDO:0019809 Dysfunction of the aortic valve characterized by incomplete valve closure that is present at birth. https://github.com/monarch-initiative/mondo/issues/4069 Congential aortic valve insufficiency congenital aortic insufficiency congenital insufficiency of aortic valve congenital aortic valve insufficiency MONDO:0019810 Toxic epidermal necrolysis (TEN) is an acute and severe skin disease with clinical and histological features characterized by the destruction and detachment of the skin epithelium and mucous membranes. SJS-TEN TEN toxic epidermolysis Lyell syndrome Lyell's syndrome Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum toxic epidermal necrolysis https://rarediseases.info.nih.gov/diseases/7743/toxic-epidermal-necrolysis MONDO:0019811 congenital unguarded tricuspid orifice tricuspid valve agenesis MONDO:0019813 congenital tricuspid stenosis MONDO:0019814 Straddling or overriding tricuspid valve is a rare, congenital, tricuspid valve malformation characterized by the tricuspid valve that overrides the ventricular septum and communicates with both ventricles, as part of the tension apparatus of the valve crosses the ventricular septal defect and is attached in the left ventricle. The anomaly occurs with other congenital heart defects (transposition of great vessels, left ventricle outflow tract obstruction, double outlet right ventricle, hypoplastic right ventricle), which determine the main clinical manifestation. straddling or overriding tricuspid valve MONDO:0019815 Accessory tricuspid valve tissue is a rare, congenital, atrioventricular valve malformation characterized by fixed or mobile accessory tissue on the tricuspid valve, usually associated with other complex congenital heart anomalies (atrial septal defect, ventricular septal defect, transposition of great arteries, tetralogy Fallot). It may present clinically with systolic murmur, dyspnea, cyanosis, depending also on accompanying congenital heart anomaly. accessory tricuspid valve tissue MONDO:0019816 anomaly of the tricuspid subvalvular apparatus MONDO:0019817 congenital mitral valve insufficiency and/or stenosis MONDO:0019818 cleft mitral valve MONDO:0019819 double-orifice mitral valve MONDO:0019820 univentricular cardiopathy MONDO:0019821 aneurysm or dilatation of ascending aorta MONDO:0019822 patent ductus arteriosus anomalies arterial duct anomaly MONDO:0019823 Premature closure of the arterial duct is a rare arterial duct anomaly, defined as a significant constriction or closure of the fetal arterial duct in the absence of structural heart defects with pathognomonic features of increased right ventricular afterload, tricuspid regurgitation and, consequently, right atrial dilation and right ventricular hypertrophy. The severity of symptoms is related to the degree and rate of ductal constriction and ranges from mild postnatal respiratory distress to development of ventricular failure with fetal hydrops and intrauterine death or severe cardiopulmonary compromise in the postnatal period. It may be associated with a prenatal exposure to cyclooxygenase inhibitors or corticosteroids. premature closure of the patent ductus arteriosus premature closure of the arterial duct MONDO:0019824 non-acquired pituitary hormone deficiency MONDO:0019825 Congenital coronary artery aneurysm is a rare congenital coronary artery malformation defined as a more than 1.5 fold the normal size dilatation of a coronary artery segment with no identified underlying inflammatory or connective tissue disease. It may be asymptomatic or may present with angina pectoris, myocardial infarction, sudden cardiac death, fistula formation, pericardial tamponade, compression of surrounding structures, or congestive heart failure. congenital coronary aneurysm congenital coronary artery aneurysm MONDO:0019826 abnormal origin or aberrant course of coronary artery MONDO:0019828 Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk. PSIS ectopic neurohypophysis hypoplastic anterior pituitary, missing stalk, and ectopic posterior pituitary pituitary stalk interruption syndrome https://rarediseases.info.nih.gov/diseases/13209/pituitary-stalk-interruption-syndrome MONDO:0019829 congenital anomaly of superior caval vein congenital anomaly of the SVC congenital anomaly of superior vena cava MONDO:0019830 https://github.com/monarch-initiative/mondo/issues/4069 congenital anomaly of the IVC congenital anomaly of the inferior caval vein congenital anomaly of the inferior vena cava MONDO:0019831 https://github.com/monarch-initiative/mondo/issues/4069 congenital anomaly of the coronary sinus MONDO:0019832 An instance of hypopituitarism that is acquired during the lifetime of the individual. acquired hypopituitarism Editor note: check this acquired pituitary hormone deficiency MONDO:0019835 Immune-mediated inflammation of the pituitary gland often associated with other autoimmune diseases (e.g., hashimoto disease; graves disease; and addison disease). autoimmune hypophysitis lymphocytic hypophysitis primary hypophysitis MONDO:0019836 https://github.com/monarch-initiative/mondo/issues/4069 congenital anomaly of hepatic vein MONDO:0019837 atrial auricle anomaly atrial appendage anomaly MONDO:0019838 An autoimmune disease of the pituitary gland which can present with varying degrees of pituitary hormonal impairment and/or with symptoms related to pituitary enlargement. It predominantly affects young women in pregnancy or the peripartum period. adenohypophysis inflammation anterior pituitary hypophysitis inflammation of adenohypophysis lymphocytic adenohypophysitis adenohypophysitis MONDO:0019839 Infundibulo-panhypophysitis panhypophysitis MONDO:0019840 Acro-pectoro-renal field defect is a very rare association of a Poland anomaly, that is characterized by unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal head) and a variable degree of ipsilateral hand anomalies (including symbrachydactyly, brachydactyly, absent thumb and hypoplastic fingers), combined with a genito-urinary anomaly. Associated genito-urinary anomalies reported include renal hypoplasia or agenesis, duplex collecting system, ureteropelvic junction obstruction, hypospadias and undescended testicles. acro-pectoro-renal field defect brachydactyly, absent pectoral muscles and agenesis/hypoplasia of kidneys acropectororenal dysplasia https://rarediseases.info.nih.gov/diseases/511/acro-pectoro-renal-field-defect MONDO:0019844 https://github.com/monarch-initiative/mondo-build/pull/120 pituitary hormone deficiency secondary to storage disease MONDO:0019845 iatrogenic or traumatic pituitary deficiency MONDO:0019846 Acquired central diabetes insipidus (acquired CDI) is a subtype of central diabetes insipidus (CDI), characterized by polyuria and polydipsia, due to an idiopathic or secondary decrease in vasopressin (AVP) production. acquired CDI acquired central diabetes insipidus acquired neurogenic diabetes insipidus acquired central diabetes insipidus MONDO:0019848 Posterior hypospadias is a rare, non-syndromic, urogenital tract malformation characterized by an ectopic urethral meatus opening located in the posterior penis, the penoscrotal junction, the scrotum or the perineum, which often appears stenotic. The scrotum might appear bifid in severe cases and micropenis is not commonly associated. Urinary tract malformations, such as ureteropelvic junction obstruction, vesicoureteric reflux, pelvic or horseshoe kidney, crossed renal ectopia, renal agenesis, may be observed. perineal, scrotal or penoscrotal hypospadias posterior hypospadias MONDO:0019849 isolated micropenis MONDO:0019851 An instance of primary ovarian failure that is acquired during the lifetime of the individual. acquired primary ovarian failure acquired premature ovarian failure acquired primary ovarian failure MONDO:0019852 An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome. hereditary primary ovarian failure inherited premature ovarian failure non-acquired premature ovarian failure inherited primary ovarian failure MONDO:0019854 Thyroid ectopia is a form of thyroid dysgenesis characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth. thyroid ectopia MONDO:0019855 Athyreosis is a form of thyroid dysgenesis characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth. athyreosis MONDO:0019857 Congenital hypothyroidism due to transplacental passage of maternal thyroid-stimulating hormone (TSH)-binding inhibitory antibodies is a type of transient congenital hypothyroidism, a thyroid hormone deficiency that is not permanent. https://github.com/monarch-initiative/mondo/issues/4069 congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies MONDO:0019858 Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism whose cause and prevalence are unknown. https://github.com/monarch-initiative/mondo/issues/4069 idiopathic congenital hypothyroidism MONDO:0019860 Thyroid hemiagenesis is a form of thyroid dysgenesis characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth. thyroid hemiagenesis MONDO:0019861 Thyroid hypoplasia is a form of thyroid dysgenesis characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth. thyroid hypoplasia MONDO:0019862 A condition where the heart is in the correct anatomic position but some or all of the other thoracoabdominal viscera are in the opposite lateral orientation. levocardia-situs inversus Isolated levocardia with situs inversus Situs inversus with levocardia levocardia MONDO:0019864 Tetrasomy 21 is an extremely rare autosomal anomaly resulting from the presence of 4 copies of chromosome 21, characterized by features of trisomy 21 including developmental delay/intellectual disability, muscular hypotonia, short neck with redundant skin, brachycephaly, microcephaly, flat face, epicanthus, upslanted palpebral fissures, small ears, protruding tongue, single transverse palmar crease, brachydactyly, hypoplastic iliac wings, together with additional features such as prematurity, intrauterine growth retardation, high and broad forehead, hypertelorism. Haematological malignancies are also associated and may occur earlier than in trisomy 21. Isochromosome 21 tetrasomy type 21 tetrasomy 21 https://rarediseases.info.nih.gov/diseases/12480/tetrasomy-21 MONDO:0019865 Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated. Mosaic trisomy chromosome 4 Mosaic trisomy type 4 trisomy 4 mosaicism mosaic trisomy 4 MONDO:0019866 Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (incl. eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated. Mosaic trisomy chromosome 5 Mosaic trisomy type 5 trisomy 5 mosaicism mosaic trisomy 5 MONDO:0019867 Mosaic trisomy 8 is a chromosomal disorder defined by the presence of three copies of chromosome 8 in some cells of the organism. It is characterized by facial dysmorphism, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies. Mosaic trisomy type 8 Warkany syndrome Mosaic trisomy chromosome 8 trisomy 8 mosaicism mosaic trisomy 8 https://rarediseases.info.nih.gov/diseases/5359/mosaic-trisomy-8 MONDO:0019868 Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (incl. prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually ocurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia. Mosaic trisomy chromosome 10 Mosaic trisomy type 10 mosaic trisomy 10 trisomy 10 mosaicism chromosome 10, uniparental disomy uniparental disomy of 10 mosaic trisomy 10 MONDO:0019869 Mosaic trisomy 22 isa chromosome disorder in which chromosome 22 is present three times, instead of the usual two times, in some cells of the body. The range and severity of the disorder can vary widely. Some of the features that have been associated with this conditioninclude growth delays,cognitive deficiencies, unequal developmentof the two sides of the body (hemidystrophy), webbing of the neck, abnormal deviation of the elbows when extended (cubitus valgus), multiple pigmented moles or birthmarks, distinctive malformations of the head and face, and other physical abnormalities. A number of cases of children with mosaic trisomy 22 and normal growth and development have also been described. Mosaic trisomy type 22 Mosaic trisomy chromosome 22 trisomy 22 mosaicism mosaic trisomy 22 https://rarediseases.info.nih.gov/diseases/6085/mosaic-trisomy-22 MONDO:0019870 Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (incl. slopping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported. https://github.com/monarch-initiative/mondo/issues/3492 distal duplication 1p36 distal trisomy type 1p36 telomeric duplication 1p36 trisomy 1pter distal trisomy 1p36 MONDO:0019871 Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (incl. high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies. https://github.com/monarch-initiative/mondo/issues/3492 distal duplication 2p distal trisomy type 2p telomeric duplication 2p trisomy 2pter distal trisomy 2p MONDO:0019872 Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers. https://github.com/monarch-initiative/mondo/issues/3492 distal duplication 3p distal trisomy type 3p telomeric duplication 3p trisomy 3pter distal trisomy 3p MONDO:0019873 4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported. https://github.com/monarch-initiative/mondo/issues/3492 distal duplication 4p distal trisomy 4p telomeric duplication 4p trisomy 4pter 4p16.3 microduplication syndrome MONDO:0019874 Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (incl. dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported. https://github.com/monarch-initiative/mondo/issues/3492 distal duplication 7p distal trisomy type 7p telomeric duplication 7p trisomy 7pter distal trisomy 7p MONDO:0019875 https://github.com/monarch-initiative/mondo/issues/3492 Beckwith-Wiedemann syndrome due to 11p15 microduplication MONDO:0019876 8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum. https://github.com/monarch-initiative/mondo/issues/4272 Invdupdel(8p) inverted 8p duplication/deletion syndrome 8p inverted duplication/deletion syndrome MONDO:0019877 Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed. https://github.com/monarch-initiative/mondo/issues/3492 distal duplication 2q distal trisomy type 2q telomeric duplication 2q trisomy 2qter distal trisomy 2q MONDO:0019878 3q26 microduplication syndrome is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations. https://github.com/monarch-initiative/mondo/issues/3492 Cornelia de Lange-like syndrome dup(3)(q26) dup(3q) syndrome trisomy 3q26 3q26 microduplication syndrome MONDO:0019879 Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported. https://github.com/monarch-initiative/mondo/issues/3492 distal duplication 4q distal trisomy type 4q telomeric duplication 4q trisomy 4qter distal trisomy 4q MONDO:0019880 Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism). https://github.com/monarch-initiative/mondo/issues/3492 distal duplication 5q distal trisomy type 5q telomeric duplication 5q trisomy 5qter distal trisomy 5q MONDO:0019881 Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported. https://github.com/monarch-initiative/mondo/issues/3492 distal duplication 6q distal trisomy type 6q telomeric duplication 6q trisomy 6qter distal trisomy 6q MONDO:0019882 Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8, with a highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects and skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss, and seizures). https://github.com/monarch-initiative/mondo/issues/3492 distal duplication 8q distal trisomy type 8q telomeric duplication 8q trisomy 8qter distal trisomy 8q MONDO:0019883 Distal trisomy 9q is a rare chromosomal anomaly, resulting from the partial trisomy of the long arm of chromosome 9, with a variable phenotype mostly characterized by psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (incl. micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (incl. arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed. https://github.com/monarch-initiative/mondo/issues/3492 distal duplication 9q distal trisomy type 9q telomeric duplication 9q trisomy 9qter distal trisomy 9q MONDO:0019884 Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay. https://github.com/monarch-initiative/mondo/issues/3492 distal duplication 10q distal trisomy type 10q telomeric duplication 10q trisomy 10qter distal trisomy 10q MONDO:0019885 Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (e.g. atrial septal defect), skeletal (incl. brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported. https://github.com/monarch-initiative/mondo/issues/3492 distal duplication 11q distal trisomy type 11q telomeric duplication 11q trisomy 11qter distal trisomy 11q MONDO:0019886 Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (incl. microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported. https://github.com/monarch-initiative/mondo/issues/3492 distal duplication 13q distal trisomy type 13q telomeric duplication 13q trisomy 13qter distal trisomy 13q MONDO:0019887 Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (incl. high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported. https://github.com/monarch-initiative/mondo/issues/3492 distal duplication 16q distal trisomy type 16q telomeric duplication 16q trisomy 16qter distal trisomy 16q MONDO:0019888 Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported. https://github.com/monarch-initiative/mondo/issues/3492 distal duplication 20q distal trisomy type 20q telomeric duplication 20q trisomy 20qter distal trisomy 20q MONDO:0019889 Distal trisomy 22q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with variable phenotype principally characterized by varying degrees of intellectual disabilty and developmental delay, pre- and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (incl. microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip an/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies, have also been reported. https://github.com/monarch-initiative/mondo/issues/3492 distal duplication 22q distal trisomy type 22q telomeric duplication 22q trisomy 22qter distal trisomy 22q MONDO:0019890 Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported. https://github.com/monarch-initiative/mondo/issues/3492 non-distal duplication 9q non-distal trisomy type 9q non-telomeric trisomy 9q non-distal trisomy 9q MONDO:0019891 Del(22) deletion 22 monosomy type 22 monosomy 22 MONDO:0019892 https://github.com/monarch-initiative/mondo/issues/3664 distal deletion 7p distal monosomy type 7p monosomy 7pter telomeric deletion 7p distal monosomy 7p MONDO:0019893 Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation). https://github.com/monarch-initiative/mondo/issues/3664 distal deletion 19p telomeric deletion 19p distal monosomy 19p13.3 MONDO:0019895 https://github.com/monarch-initiative/mondo/issues/3664 distal deletion 4q distal monosomy type 4q monosomy 4qter telomeric deletion 4q distal monosomy 4q MONDO:0019896 https://github.com/monarch-initiative/mondo/issues/3664 9q subtelomeric deletion syndrome 9qSTDS Kleefstra syndrome due to 9q subtelomeric deletion Kleefstra syndrome due to del(9)(q34) Kleefstra syndrome due to monosomy 9q34 Kleefstra syndrome due to 9q34 microdeletion MONDO:0019897 https://github.com/monarch-initiative/mondo/issues/3664 distal deletion 12q distal monosomy type 12q monosomy 12qter telomeric deletion 12q distal monosomy 12q MONDO:0019898 Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and oftalmological anomalies were also reported. https://github.com/monarch-initiative/mondo/issues/3664 distal deletion 14q distal monosomy type 14q telomeric deletion 14q distal monosomy 14q MONDO:0019899 https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/5767 2023-04-01 distal deletion 20q distal monosomy type 20q monosomy 20qter telomeric deletion 20q Reason of obsoletion: out of scope - cross-reference obsolete at the source (MONDO:excludeObsoleteSource). Term to consider: 20q13.33 microdeletion syndrome-MONDO:0016843 distal monosomy 20q MONDO:0019900 https://github.com/monarch-initiative/mondo/issues/3664 non-distal deletion 12q non-distal monosomy type 12q non-telomeric monosomy 12q non-distal monosomy 12q MONDO:0019901 https://github.com/monarch-initiative/mondo/issues/3664 non-distal deletion 20q non-distal monosomy type 20q non-telomeric monosomy 20q non-distal monosomy 20q MONDO:0019902 Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum. https://github.com/monarch-initiative/mondo/issues/3664 Del(13)(q34) distal deletion 13q34 monosomy type 13q34 subtelomeric deletion 13q34 monosomy 13q34 MONDO:0019903 Ring chromosome 2 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (incl. microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (e.g. kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (i.e. café-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (e.g. genital hypoplasia, phimosis, cryptorchidism). Ring chromosome type 2 rose cluster 2 R2 Ring 2 Ring chromosome 2 syndrome chromosome 2 ring ring chromosome 2 https://rarediseases.info.nih.gov/diseases/10837/ring-chromosome-2 MONDO:0019904 Ring chromosome 3 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by pre- and postnatal growth retardation, short stature, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features (incl. triangular face, dysplastic ears, upslanting palpebral fissures, epicanthic folds, broad nasal bridge, full nasal tip, long philtrum, downturned corners of the mouth, and micro/retrognathia). Additional manifestations reported include hypotonia, mild articular limitation, hearing loss, digital anomalies (i.e. clinodacytyly, brachydactyly), café-au-lait patches and hypospadias. Ring chromosome type 3 rose cluster 3 R3 Ring 3 Ring chromosome 3 syndrome chromosome 3 ring ring chromosome 3 https://rarediseases.info.nih.gov/diseases/10839/ring-chromosome-3 MONDO:0019905 Ring chromosome 9 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies. Ring 9 Ring chromosome type 9 Ring chromosome 9 syndrome chromosome 9 ring r9 ring chromosome 9 https://rarediseases.info.nih.gov/diseases/1348/ring-chromosome-9 MONDO:0019906 Ring chromosome 11 syndrome is an autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and café-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported. RC11 Ring chromosome type 11 r(11) syndrome Ring 11 Ring chromosome 11 syndrome chromosome 11 ring r11 ring chromosome 11 https://rarediseases.info.nih.gov/diseases/10846/ring-chromosome-11 MONDO:0019907 Ring chromosome 13 is a chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia. Ring chromosome type 13 R13 Ring 13 Ring chromosome 13 syndrome chromosome 13 ring ring chromosome 13 https://rarediseases.info.nih.gov/diseases/6069/ring-chromosome-13 MONDO:0019908 Ring chromosome 15 is a chromosome abnormality that affects growth, learning, and speech. People with ring chromosome 15 often have growth delays before and after birth, resulting in short stature; varying degrees of intellectual disability ; low muscle tone (hypotonia); craniofacial malformations; and limb abnormalities. Other symptoms might include congenital heart defects, kidney problems, congenital dislocation of the hips, and cafe-au-lait spots. Ring chromosome 15 is caused by an abnormal chromosome known as a ring chromosome 15 or r(15). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and the broken ends fuse together. The features of ring chromosome 15 appear to result from the loss (deletion) of genetic material from the long (q) arm of chromosome 15. Ring chromosome 15 is usually caused by spontaneous (de novo) errors very early in embryonic development. In rare cases, it is passed through families, either from a parent who also has a ring chromosome 15, or from a parent who has a balanced translocation. Treatment for ring chromosome 15 is focused on addressing the symptoms present in each individual and may require a team of medical specialists. Ring chromosome type 15 R15 Ring 15 Ring chromosome 15 syndrome chromosome 15 ring ring chromosome 15 https://rarediseases.info.nih.gov/diseases/1328/ring-chromosome-15 MONDO:0019909 Ring chromosome 16 is characterized bypostnatal growthdeficiency, intellectual disability, microcephaly, broad flat nasal bridge, down-turned mouth, low-set and dysmorphic (abnormally-shaped) ears and speech delay.To date, less than 10 cases have been reported in the medical literature. Ring chromosome type 16 R16 Ring 16 Ring chromosome 16 syndrome chromosome 16 ring ring chromosome 16 https://rarediseases.info.nih.gov/diseases/10855/ring-chromosome-16 MONDO:0019910 Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. UPD(2)mat maternal uniparental disomy of chromosome type 2 maternal uniparental disomy of chromosome 2 MONDO:0019911 Maternal uniparental disomy of chromosome 4 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. UPD(4)mat maternal uniparental disomy of chromosome type 4 maternal uniparental disomy of chromosome 4 MONDO:0019912 Maternal uniparental disomy of chromosome 6 is an uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes. UPD(6)mat maternal uniparental disomy of chromosome type 6 maternal uniparental disomy of chromosome 6 MONDO:0019913 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders). Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 7 UPD(7)mat silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 MONDO:0019914 Maternal uniparental disomy of chromosome 9 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. UPD(9)mat maternal uniparental disomy of chromosome type 9 maternal uniparental disomy of chromosome 9 MONDO:0019915 Maternal uniparental disomy of chromosome 14 is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum). UPD(14)mat maternal uniparental disomy of chromosome type 14 maternal uniparental disomy of chromosome 14 MONDO:0019916 UPD(16)mat maternal uniparental disomy of chromosome type 16 maternal uniparental disomy of chromosome 16 MONDO:0019917 Maternal uniparental disomy of chromosome 20 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy. UPD(20)mat maternal UPD(20) maternal uniparental disomy of chromosome type 20 MBCS MULCHANDANI-BHOJ-CONLIN syndrome uniparental disomy, maternal, chromosome 20 maternal uniparental disomy of chromosome 20 MONDO:0019918 UPD(21)mat maternal uniparental disomy of chromosome type 21 maternal uniparental disomy of chromosome 21 MONDO:0019919 UPD(22)mat maternal uniparental disomy of chromosome type 22 maternal uniparental disomy of chromosome 22 MONDO:0019920 Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier. UPD(5)pat paternal uniparental disomy of chromosome type 5 paternal uniparental disomy of chromosome 5 MONDO:0019921 Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia. UPD(6)pat paternal uniparental disomy of chromosome type 6 paternal uniparental disomy of chromosome 6 MONDO:0019922 Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (e.g., cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss). UPD(7)pat paternal uniparental disomy of chromosome type 7 paternal uniparental disomy of chromosome 7 MONDO:0019923 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome type 11 Mosaic paternal uniparental disomy of chromosome 11 UPD(11)pat Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 MONDO:0019924 Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b testing and have UPD involving variable segments of the long arm of chromosome 20. UPD(20)pat paternal UPD(20) paternal UPD20 paternal uniparental disomy of chromosome type 20 paternal uniparental disomy of chromosome 20 MONDO:0019925 Paternal uniparental disomy of chromosome 21 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier. UPD(21)pat paternal uniparental disomy of chromosome type 21 paternal uniparental disomy of chromosome 21 MONDO:0019926 X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures. X small rings MONDO:0019927 An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces growth hormone. Growth hormone-producing pituitary gland tumor growth hormone producing neoplasm of pituitary growth hormone producing neoplasm of pituitary gland growth hormone producing neoplasm of the pituitary growth hormone producing neoplasm of the pituitary gland growth hormone producing pituitary gland neoplasm growth hormone producing pituitary gland tumor growth hormone producing pituitary neoplasm growth hormone producing pituitary tumor growth hormone producing tumor growth hormone producing tumor of pituitary growth hormone producing tumor of pituitary gland growth hormone producing tumor of the pituitary growth hormone producing tumor of the pituitary gland growth hormone secreting neoplasm of pituitary growth hormone secreting neoplasm of pituitary gland growth hormone secreting neoplasm of the pituitary growth hormone secreting neoplasm of the pituitary gland growth hormone secreting pituitary gland neoplasm growth hormone secreting pituitary gland tumor growth hormone secreting pituitary neoplasm growth hormone secreting pituitary tumor growth hormone secreting tumor of pituitary growth hormone secreting tumor of pituitary gland growth hormone secreting tumor of the pituitary growth hormone secreting tumor of the pituitary gland growth hormone-producing pituitary gland neoplasm pituitary gland somatotropinoma pituitary somatotropinoma somatotroph neoplasm somatotroph tumor somatotropinoma somatotropinoma of pituitary somatotropinoma of pituitary gland somatotropinoma of the pituitary somatotropinoma of the pituitary gland growth hormone-producing pituitary gland neoplasm MONDO:0019928 The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males. 48, XXXY syndrome XXXY syndrome 48,XXXY syndrome https://rarediseases.info.nih.gov/diseases/5676/48xxxy-syndrome MONDO:0019929 The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males. 49,XXXXY XXXXY syndrome 49,XXXXY syndrome https://rarediseases.info.nih.gov/diseases/5679/49xxxxy-syndrome MONDO:0019930 46,XY DSD due to complete LH receptor inactivation 46,XY DSD due to complete LH resistance 46,XY DSD due to complete luteinizing hormone receptor inactivation 46,XY DSD due to complete luteinizing hormone resistance 46,XY disorder of sex development due to complete LH receptor inactivation 46,XY disorder of sex development due to complete LH resistance 46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation 46,XY disorder of sex development due to complete luteinizing hormone resistance Leydig cell hypoplasia due to complete LH receptor inactivation Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation Leydig cell hypoplasia due to complete luteinizing hormone resistance Leydig cell hypoplasia due to complete LH resistance MONDO:0019931 46,XY DSD due to partial LH receptor inactivation 46,XY DSD due to partial LH resistance 46,XY DSD due to partial luteinizing hormone resistance 46,XY disorder of sex developement due to partial LH receptor inactivation 46,XY disorder of sex developement due to partial LH resistance 46,XY disorder of sex developement due to partial luteinizing hormone resistance Leydig cell hypoplasia due to partial LH receptor inactivation Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation Leydig cell hypoplasia due to partial luteinizing hormone resistance Leydig cell hypoplasia due to partial LH resistance MONDO:0019932 Isolated partial vaginal agenesis is a rare, non-syndromic urogenital tract malformation characterized by the absence of a vagina or the presence of a vaginal dimple shorter than 5 cm. It is often associated with uterine agenesis, hematocolpos or primary amenorrhea and dyspareunia. Ovaries and fallopian tubes are normal. congenital absence of vagina isolated partial vaginal agenesis MONDO:0019933 Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations. Growth hormone excess pituitary giant somatotroph adenoma acromegaly https://rarediseases.info.nih.gov/diseases/5725/acromegaly MONDO:0019934 Chromosomal disorder in which the chromosomal constitution of a cell containing multiples of the normal number of chromosomes; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc. polyploidy MONDO:0019935 Isochromosome type Y isochromosome Y MONDO:0019938 anorectal malformation MONDO:0019939 early-onset schizophrenia MONDO:0019940 Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia, CantC9 type. haff hypertrichosis-acromegaloid facial features syndrome hypertrichosis-coarse face syndrome acromegaloid facial appearance syndrome and hypertrichosis acromegaloid hypertrichosis syndrome hypertrichosis-acromegaloid facial appearance syndrome https://rarediseases.info.nih.gov/diseases/502/acromegaloid-hypertrichosis-syndrome MONDO:0019941 Hereditary sensory and autonomic neuropathy, type 2 (HSAN2) is an inherited disorder characterized by profound and universal sensory loss involving large and small fiber nerves, and marked hypotonia. HSAN2 autosomal recessive sensory radicular neuropathy hereditary sensory and autonomic neuropathy type II neurogenic acroosteolysis Giaccai type acroosteolysis hereditary sensory neuropathy type 2 hereditary sensory radicular neuropathy, recessive form hereditary sensory and autonomic neuropathy type 2 MONDO:0019942 A muscle tissue disease characterized by congenital joint contractures of hand and feet. arthrogryposis multiplex congenita distal distal arthrogryposis https://rarediseases.info.nih.gov/diseases/786/distal-arthrogryposis MONDO:0019943 Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia. continuous muscle fiber activity hereditary hereditary continuous muscle fiber activity https://rarediseases.info.nih.gov/diseases/1512/continuous-muscle-fiber-activity-hereditary MONDO:0019944 Eisenmenger syndrome (ES) is an form of pulmonary arterial hypertension (PAH) associated with unoperated congenital heart disease and is characterized by congenital heart malformations with reversed or bi-directional shunting through an intra-cardiac or intervascular (usually aorto-pulmonary) communication with the development of PAH. Eisenmenger's syndrome Eisenmenger syndrome https://rarediseases.info.nih.gov/diseases/6323/eisenmenger-syndrome MONDO:0019945 Solar urticaria (SU) is a rare and difficult to treat photosensitive disease, in which local skin swelling occurs within minutes of exposure to natural sunlight or even artificial light sources emitting ultraviolet radiation. solar urticaria MONDO:0019946 Ligneous conjunctivitis (LC) is a rare form of chronic conjunctivitis characterised by the recurrent formation of pseudomembranous lesions most commonly on the palpebral surfaces. It is most frequently reported as a clinical manifestation of severe homozygous or compound-heterozygous hypoplasminogenemia. conjunctivitis lignosa ligneous conjunctivitis MONDO:0019947 An autosomal dominant condition caused by mutation(s) in the CAV3 gene, encoding caveolin-3. It is characterized by mechanically triggered contractions of skeletal muscles. Limb-girdle muscular dystrophy type 1C is an allelic disorder with an overlapping phenotype. CAV3 autosomal dominant limb-girdle muscular dystrophy CAV3 rippling muscle disease LGMD1C RMD2 autosomal dominant limb-girdle muscular dystrophy caused by mutation in CAV3 limb-girdle muscular dystrophy due to caveolin-3 deficiency muscular dystrophy limb-girdle type IC rippling muscle disease 2 rippling muscle disease caused by mutation in CAV3 rippling muscle disease type 2 limb-girdle muscular dystrophy type 1C muscular dystrophy, limb-girdle, type 1C muscular dystrophy, limb-girdle, type IC rippling muscle disease 2 MONDO:0019948 Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibres. reducing body myopathy https://rarediseases.info.nih.gov/diseases/12162/reducing-body-myopathy MONDO:0019949 zebra body myopathy MONDO:0019950 A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted. https://github.com/monarch-initiative/mondo/issues/4069 CMD MDC congenital MD congenital muscular dystrophy MONDO:0019951 Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency. rigid spine congenital muscular dystrophy desmin-related myopathies with Mallory bodies muscular dystrophy, congenital, merosin positive with early spine rigidity rigid spine muscular dystrophy-1 rigid spine syndrome MONDO:0019952 https://github.com/monarch-initiative/mondo/issues/4069 congenital myopathy batten Turner congenital myopathy myopathy congenital congenital myopathy MONDO:0019953 mega-cisterna magna MONDO:0019954 Pancreatic endocrine tumor, also known as pancreatic neuroendocrine tumor (PNET), describes a group of endocrine tumors originating in the pancreas that are usually indolent and benign, but may have the potential to be malignant. They can be functional, exhibiting a hormonal hypersecretion syndrome, but can be non-functional presenting with non-specific symptoms and include insulinoma, glucagonoma, VIPoma, somatostatinoma (SSoma), PPoma and Zollinger-Ellison syndrome (ZES, or gastrinoma) and other ectopic hormone producing tumors (such as GRFoma). islet cell tumor islet cell tumors - pancreas islet cell tumors of the pancreas pancreatic NET pancreatic neuroendocrine tumor well differentiated pancreatic endocrine neoplasm well differentiated pancreatic endocrine tumor well-differentiated NEN of pancreas well-differentiated neuroendocrine neoplasm of pancreas well-differentiated pancreatic NEN well-differentiated pancreatic neuroendocrine neoplasm PANET neuroendocrine tumor of pancreas pancreatic endocrine tumor pancreatic neuroendocrine tumor MONDO:0019955 6cm and approximately 1/3 have metastasized at the time of diagnosis. It often co-occurs with Zollinger-Ellison syndrome or multiple endocrine neoplasia type 1 (MEN 1). GRF tumor Growth hormone releasing factor tumor GRFoma MONDO:0019956 An acute inflammatory process affecting the brain parenchyma. Causes include viral infections and less frequently bacterial infections, toxins, and immune-mediated processes. brain inflammation encephalitis MONDO:0019957 PPoma is a type of pancreatic endocrine tumor that hypersecretes pancreatic polypeptide (PP) but that does not cause a hypersecretion syndrome (is non-functioning) and instead presents with only non-specific symptoms such as weight loss, abdominal pain, jaundice, diarrhea and/or an abdominal mass, hence leading to a late diagnosis. PPoma can be associated with multiple endocrine neoplasia 1 (MEN-1). pancreatic polypeptide neoplasm pancreatic polypeptide tumor pancreatic polypeptidoma PPoma MONDO:0019959 Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities, thromboembolism, gastrointestinal and neuropsychiatric symptoms. glucagonoma glucagonoma syndrome pancreatic glucagonoma glucagonoma MONDO:0019960 VIPoma is an extremely rare type of pancreatic neuroendocrine tumor that secretes vasoactive intestinal polypeptide (VIP) leading to the manifestations of watery diarrhea, hypokalemia and achlorhydia or hypochhlorhydia (known as WDHA syndrome). Diarrheogenic islet cell tumor VIP producing neoplasm VIP- secreting neoplasm VIP- secreting tumor VIP-producing NET VIP-producing neuroendocrine tumor VIP-secreting tumor VIPoma VIPoma, malignant Verner-Morrison syndrome malignant vasoactive intestinal peptide-secreting tumor vasoactive intestinal peptide producing neoplasm vasoactive intestinal peptide producing tumor vasoactive intestinal peptide secreting neoplasm vasoactive intestinal peptide-secreting tumor WDHA syndrome pancreatic cholera pancreatic vipoma vasoactive intestinal peptide (VIP) tumor vasoactive intestinal peptide-producing tumor watery diarrhea, hypokalemia, and achlorhydria syndrome watery diarrhea-hypokalemia-achlorhydria syndrome VIPoma MONDO:0019962 A lymphoma primarily involving the thyroid gland. lymphoma of the thyroid lymphoma of the thyroid gland lymphoma of thyroid lymphoma of thyroid gland primary thyroid gland lymphoma thyroid gland lymphoma thyroid lymphoma thyroid lymphoma MONDO:0019963 A neuroendocrine neoplasm that involves the bronchus. bronchial NET bronchus NET bronchus neuroendocrine neoplasm bronchus neuroendocrine tumor bronchus neuroendocrine tumor, well differentiated, low or intermediate grade neuroendocrine neoplasm of bronchus bronchial neuroendocrine tumor bronchial endocrine tumor MONDO:0019964 Thymic endocrine tumor is a rare, malignant, primary thymic neoplasm originating from neuroendocrine cells, presenting as a mass within the anterior mediastinum. Patients typically present with nonspecific symptoms, such as chest pain, cough, shortness of breath, or in some cases, superior vena cava syndrome, although patients could be asymptomatic during the early stages or present with multiple endocrine neoplasia type I. Ectopic production of ACTH and serotonin can lead to Cushing syndrome and carcinoid sydrome, respectively. neuroendocrine neoplasm of thymus thymus NET thymus neuroendocrine neoplasm thymus neuroendocrine tumor thymus neuroendocrine tumor, well differentiated, low or intermediate grade thymic neuroendocrine tumor MONDO:0019967 Kienbock disease is a rare bone disorder of unknown etiology characterized clinically by osteonecrosis of the carpal lunate, eventually leading to collapse of the lunate bone impacting wrist function. Lunatomalacia Osteochondrosis of the lunate bone aseptic necrosis of the lunate bone osteochondritis of the lunate bone Kienbock's disease bilateral Kienbock's disease Kienbock disease MONDO:0019969 Panner's disease is an osteochondrosis of the capitellum of the humerus, characterised by involvement of the dominant upper limb and onset before the age of 10 years. It results from lateral compression injuries of the elbow typically occurring in children practising sports such as baseball and throw. It should be distinguished from osteochondritis dissecans of the capitellum, occurring later, in adolescents. Management is symptomatic and consists in reducing the activities of the affected elbow for a prolonged period of time. Prognosis is good. Osteochondrosis of the capital humerus aseptic necrosis of the capital humerus panner disease MONDO:0019970 Sinding-Larsen-Johansson disease is a type of osteochondrosis affecting the attachment of the patellar tendon to the patella and characterised by tenderness and localized swelling of the patella. Osteochondrosis of patella aseptic necrosis of patella Sinding-Larsen-Johansson disease MONDO:0019971 clear cell sarcoma of the tendons and aponeuroses melanoma of soft tissue MONDO:0019972 cranial dural arteriovenous fistula cranial dural arteriovenous malformations dural sinus malformation MONDO:0019973 Persistent placoid maculopathy is characterised by white plaque-like lesions involving the macula but sparing the peripapillary areas of both eyes. It has been described in five patients. In contrast to patients with macular serpiginous choroiditis presenting with similar lesions, the five patients reported so far with persistent placoid maculopathy had good visual acuity until the onset of choroidal neovascularization (CNV) or pigmentary mottling. The macular lesions fade after several months or years, but the vascular anomalies persist leading to a loss of central vision. persistent placoid maculopathy MONDO:0019975 Pellagra is a nutritional disorder caused by a deficiency in niacin (vitamin B3) or its precursor (tryptophan) that is mainly observed in Asia and Africa where it is generally due to poor nutrition. It is characterized by dermatitis (symmetrical photodistributed erythema that may be accompanied by vesicles and bullae, and that develops into hyperkeratotic and hyperpigmented skin), gastrointestinal symptoms (diarrhea), and neuropsychiatric disorders (dementia). It can be life-threatening without a correct management. niacin deficiency niacin-tryptophan deficiency pellagra pellagra https://rarediseases.info.nih.gov/diseases/10014/pellagra MONDO:0019976 Conditions characterized by persistent brain damage or dysfunction as sequelae of cranial trauma. This disorder may result from diffuse axonal injury; intracranial hemorrhages; brain edema; and other conditions. Clinical features may include dementia; focal neurologic deficits; persistent vegetative state; akinetic mutism; or coma. Boxer's dementia chronic traumatic encephalopathy punch-drunk syndrome dementia pugilistica MONDO:0019977 Parkinsonism with dementia of Guadeloupe is characterised by symmetrical bradykinesia, predominantly axial rigidity, postural instability with early falls and cognitive decline with prominent features of frontal lobe dysfunction. parkinsonism with dementia of Guadeloupe MONDO:0019978 Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia. Robinow dwarfism Robinow-Silverman-Smith syndrome acral dysostosis with facial and genital abnormalities fetal face syndrome mesomelic dwarfism-small genitalia syndrome Covesdem syndrome (formerly) costovertebral segmentation defect with mesomelia (formerly) Robinow syndrome MONDO:0019979 Unilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which one kidney is small and has a deficit in the number of nephrons present. renal hypoplasia, unilateral MONDO:0019980 Bilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which both kidneys are small and have a deficit in the number of nephrons present. renal hypoplasia, bilateral MONDO:0019981 Unilateral multicystic dysplastic kidney is the form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional. unilateral MCDK unilateral multicystic renal dysplasia unilateral multicystic dysplastic kidney MONDO:0019982 Bilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional. bilateral MCDK bilateral multicystic renal dysplasia MRD PUJO Pelvi-ureteric junction obstruction bilateral multicystic dysplastic kidney MONDO:0019983 multilocular cyst of the kidney multilocular renal cyst multiloculated renal cyst MONDO:0019984 An acquired form of renal tubular dysgenesis that develops in donor fetuses due to the uneven shunting of growth factor and nutrients to the kidney of the recipient and is characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects). renal tubular dysgenesis due to twin-twin transfusion MONDO:0019985 drug-related renal tubular dysgenesis MONDO:0019986 sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy MONDO:0019988 Pauci-immune glomerulonephritis (GN) with antineutrophil cytoplasmic antibodies (ANCA) is a form of rapidly progressive GN comprising about 90% of pauci-immune glomerulonephritis, and associated with the presence of circulating ANCA (mostly directed against proteinase-3 (PR3) and myeloperoxidase (MPO)). Patients usually present with hematuria and rapidly declining renal function, often leading to dialysis within weeks without treatment. Cutaneous, pulmonary, musculoskeletal and nervous involvement may be observed in case of systemic disease, and the correlation between ANCA titer and disease activity has been demonstrated. pauci-immune glomerulonephritis with antineutrophil cytoplasmic antibody pauci-immune glomerulonephritis with ANCA MONDO:0019989 Pauci-immune glomerulonephritis (GN) without antineutrophilic cytoplasmic antibodies (ANCA) is a form of rapidly progressive glomerulonephritis comprising 10-43% of pauci-immune glomerulonephritis and characterized by the absence of ANCA. In comparison with pauci-immune GN with ANCA, patients lacking ANCA may be younger at onset of the disease and have a shorter interval from onset of the disease to diagnosis. They have fewer extra renal manifestations (e.g. involvement of lung, eye, ear, nose and throat), fewer constitutional symptoms (e.g. fever, weight loss, muscle pain and arthralgia) and a high prevalence of nephrotic syndrome and chronic renal lesions. Their prognosis is generally poorer. antineutrophil cytoplasmic antibody-negative pauci-immune glomerulonephritis pauci-immune glomerulonephritis without antineutrophil cytoplasmic antibody pauci-immune glomerulonephritis without ANCA MONDO:0019990 Non-amyloid fibrillary glomerulopathy (non-amyloid FGP) is a rare cause of glomerulonephritis (GN) characterized by glomerular accumulation of non-amyloid fibrils in the mesangium and the glomerular (and rarely tubular) basement membrane, that mainly presents with renal insufficiency, micro-hematuria and nephrotic range proteinuria. Non-amyloid FGP and immunotactoid glomerulopathy (ITG) are often grouped together as pathogenetically related diseases. Congo red-negative amyloidosis-like glomerulopathy non-amyloid fibrillary glomerulonephritis fibrillary glomerulonephritis non-amyloid fibrillary glomerulopathy MONDO:0019991 Immunotactoid glomerulopathy (ITG) is a very rare condition characterized by glomerular accumulation of microtubules in the mesangium and the glomerular basement membrane, that mainly presents with proteinuria, micro-hematuria, nephrotic syndrome, renal insufficiency and hematologic malignancy. ITG and non-amyloid fibrillary glomerulopathy (non-amyloid FGP) are often grouped together as pathogenetically related diseases. FGN Immunotactoid glomerulonephritis fibrillary glomerulonephritis immunotactoid glomerulopathy https://rarediseases.info.nih.gov/diseases/12048/immunotactoid-glomerulopathy MONDO:0019992 Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a), PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP). pseudohypoparathyroidism https://rarediseases.info.nih.gov/diseases/10758/pseudohypoparathyroidism MONDO:0019993 A narrowing of renal arteries that is present since birth. https://github.com/monarch-initiative/mondo/issues/1741 congenital RAS congenital renovascular hypoplasia congenital renal artery stenosis MONDO:0019994 Maternal uniparental disomy of chromosome 13 is an uniparental disomy of maternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. UPD(13)mat maternal uniparental disomy of chromosome type 13 maternal uniparental disomy of chromosome 13 MONDO:0019995 Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth. peripheral resistance to thyroid hormones https://rarediseases.info.nih.gov/diseases/12734/peripheral-resistance-to-thyroid-hormones MONDO:0019998 gastroduodenal malformation MONDO:0019999 intestinal malformation MONDO:0020001 respiratory or thoracic malformation MONDO:0020007 Unilateral absence of the pulmonary artery (UAPA) is a rare congenital great vessels anomaly that commonly presents by dyspnea, frequent respiratory infections, hemoptysis and high-altitude pulmonary edema. UAPA is often associated with congenital heart malformation (CHM). In the absence of associated cardiac malformation (isolated UAPA; IUAPA), the condition may be asymptomatic until adult age. absence of the pulmonary artery MONDO:0020010 A infectious disease that involves the nervous system. nervous system infectious disease nervous system infectious disorder infectious disorder of the nervous system MONDO:0020018 cranial malformation MONDO:0020019 digestive tract malformation MONDO:0020020 visceral malformation of the liver, biliary tract, pancreas or spleen MONDO:0020021 https://github.com/monarch-initiative/mondo/issues/5451 2023-01-01 This will be obsoleted in the 2023-01-01 release. The term will be split and the new ID for this term will be MONDO:0800168 (diaphragmatic wall malformation), and MONDO:0800171 (abdominal wall malformation). diaphragmatic or abdominal wall malformation MONDO:0020022 central nervous system malformation MONDO:0020023 respiratory or mediastinal malformation MONDO:0020039 46,XX DSD induced by androgens excess 46,XX disorder of sex development induced by androgens excess MONDO:0020040 Differences of sex development in individuals with 46,XY karyotype. 46,XY DSD 46,XY differences of Sex development 46,XY disorders of Sex development 46, XY DSD 46, XY disorders of sexual development 46, XY female XY female 46,XY disorder of sex development MONDO:0020043 autosomal recessive congenital cerebellar ataxia MONDO:0020044 autosomal recessive metabolic cerebellar ataxia MONDO:0020046 autosomal recessive degenerative and progressive cerebellar ataxia MONDO:0020047 autosomal recessive syndromic cerebellar ataxia MONDO:0020048 Internal carotid artery (ICA) agenesis (uni or bilateral) is a developmental defect that may be asymptomatic or lead to cerebrovascular lesions. It is a rare malformation, with only around hundred cases reported in the literature. When symptoms are present, they are caused by cerebrovascular insufficiency, compression of the brain by vessels that dilate to compensate for the absence of the ICA, or the presence of an aneurysm. Associated intracranial aneurysms occur in 25 to 35% of patients and are often responsible for intracranial hemorrhage, which may present as the initial symptom. The absence of the ICA is the result of either agenesis or aplasia. The term agenesis is used when both the ICA and its bony canal are absent, whereas there is some evidence of carotid canals in cases of aplasia. The absence of the ICA can be detected by angiography or by computerised tomography. agenesis of the internal carotid artery internal carotid artery agenesis internal carotid agenesis https://rarediseases.info.nih.gov/diseases/3012/internal-carotid-agenesis MONDO:0020049 Chromosomal disorder in which the chromosomal anomaly involves an autosome. autosome chromosomal anomaly chromosomal anomaly of autosome autosomal anomaly MONDO:0020058 Chromosomal disorder in which the chromosomal anomaly involves an gonosome. A gonosome is a chromosome responsible for sex determination. In humans and most animals, the sex chromosomes are designated X and Y. Sex-chromosome anomaly gonosome anomaly MONDO:0020064 Pulmonary valve agenesis is a rare congenital heart malformation characterized by a total or partial absence of the pulmonary valve leaflets associated with stenosis of the pulmonary artery orifice and aneurysmal dilatation of the pulmonary arteries. It usually occurs in association with additional cardiovascular malformations such as teralogy of fallot or ventricular septal defect, or can occur as part of a syndrome (e.g. 22q11.2 deletion syndrome). Clinical features depend on the presence of associated cardiac malformations and include pulmonary insufficiency, bronchial obstruction (secondary to compression by aneurysmally dilated pulmonary arteries), pulmonary stenosis, cyanosis, and cardiac failure.3424 PVA absent pulmonary valve syndrome congenital absence of the pulmonary valve pulmonary valves agenesis pulmonary valve agenesis MONDO:0020065 A dystonia that is combined with another movement disorder (e.g., myoclonus, parkinsonism). dystonia-plus syndrome combined dystonia MONDO:0020066 The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. https://github.com/monarch-initiative/mondo/issues/5682 Cutis hyperelastica India rubber skin Danlos Disease, Ehlers Danlos disease Disease, Ehlers Danlos Disease, Ehlers-Danlos Dystrophia mesodermalis congenita EDS Ehler Danlos Syndrome Ehlers Danlos Disease Ehlers Danlos syndrome Ehlers-Danlos Disease Ehlers-Danlos syndromes Fibrodysplasia elastica generalisata Hereditary collagen dysplasia Meekeren-Ehlers-Danlos syndrome Syndrome, Ehlers-Danlos danlos ehlers syndrome elastic skin skin elastic ED syndrome Ehlers-Danlos syndrome MONDO:0020067 An acute infectious process that affects the brain tissue. It is usually caused by viruses and less often by bacteria, parasites, and fungi. encephalitis infection infectious encephalitis MONDO:0020068 postinfectious encephalitis MONDO:0020069 Chronic form of encephalitis. encephalitis, chronic chronic encephalitis MONDO:0020070 https://github.com/monarch-initiative/mondo/issues/1640 This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. neonatal epilepsy syndrome MONDO:0020071 An epilepsy syndrome that occurs between 28 days to one year of life. https://github.com/monarch-initiative/mondo/issues/1640 epilepsy syndrome of infancy infantile epilepsy syndrome infantile onset epilepsy syndrome This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. infantile epilepsy syndrome MONDO:0020072 A epilepsy syndrome that occurs during childhood. https://github.com/monarch-initiative/mondo/issues/1640 childhood epilepsy syndrome childhood-onset epilepsy syndrome epilepsy syndrome of childhood pediatric epilepsy syndrome This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. childhood-onset epilepsy syndrome MONDO:0020073 https://github.com/monarch-initiative/mondo/issues/1640 This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. adolescent-onset epilepsy syndrome MONDO:0020074 A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system. PME epilepsy, progressive myoclonic progressive myoclonic epilepsy progressive myoclonic epilepsy (disorder) [ambiguous] progressive myoclonus epilepsy familial progressive myoclonic epilepsy progressive myoclonus epilepsy MONDO:0020075 genetic isolated obesity genetic non-syndromic obesity monogenic isolated obesity monogenic obesity due to a leptin-melanocortin pathway anomaly genetic non-syndromic obesity MONDO:0020076 A clonal hematopoietic stem cell disorder, characterized by proliferation in the bone marrow of one or more of the myeloid (i.e., granulocytic, erythroid, megakaryocytic, and mast cell) lineages. It is primarily a neoplasm of adults. (WHO 2008) CMPD MPD MPN chronic myeloproliferative disease chronic myeloproliferative disorder chronic myeloproliferative neoplasm myeloproliferative disorder myeloproliferative neoplasm myeloproliferative neoplasm, chronic myeloproliferative tumor CMPD, U chronic myeloproliferative disorders myeloproliferative neoplasms myeloproliferative neoplasm MONDO:0020077 Clonal myeloid disorders that possess both dysplastic and proliferative features but are not properly classified as either MYELODYSPLASTIC SYNDROMES or MYELOPROLIFERATIVE disorderS. myelodysplastic/myeloproliferative disease MONDO:0020081 macrophage or histiocytic tumor MONDO:0020082 A dendritic cell tumor develops from the cells of the immune system. This condition typically begins in the lymph system and may spread to nearby organs or distant parts of the body (metastasize). There are five subtypes of dendritic cell tumors: follicular dendritic cell tumor, interdigitating dendritic cell tumor, Langerhans' cell histiocytosis, Langerhans' cell sarcoma, and dendritic cell sarcoma not specified otherwise. The symptoms and severity of the condition depend on the subtype and location of the tumor. Treatment may include surgery, radiation therapy, and/or chemotherapy. Dendritic cell sarcoma, NOS Dendritic cell sarcoma, Not otherwise specified Dendritic cell tumor, NOS Dendritic cell tumor, Not otherwise specified Dendritic cell neoplasm dendritic cell tumor https://rarediseases.info.nih.gov/diseases/8317/dendritic-cell-tumor MONDO:0020083 immunodeficiency-associated lymphoproliferative disease MONDO:0020084 lymphoproliferative disease associated with primary immune disease MONDO:0020087 Genetic lipodystrophy. genetic lipodystrophy genetic lipodystrophy (disease) genetic lipodystrophy MONDO:0020088 Familial partial lipodystrophy (FPLD) is a group of rare genetic lipodystrophic syndromes characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis. FPLD Koberling-Dunnigan syndrome congenital partial lipodystrophy genetic partial lipodystrophy lipodystrophy, familial partial familial partial lipodystrophy MONDO:0020089 An instance of lipodystrophy (disease) that is acquired during the lifetime of the individual. acquired lipodystrophy (disease) acquired lipodystrophy MONDO:0020093 Autosomal dominant form of isolated diffuse palmoplantar keratoderma. autosomal dominant isolated diffuse palmoplantar hyperkeratosis isolated diffuse palmoplantar keratoderma, autosomal dominant autosomal dominant isolated diffuse palmoplantar keratoderma MONDO:0020096 Autosomal recessive form of isolated diffuse palmoplantar keratoderma. autosomal recessive isolated diffuse palmoplantar hyperkeratosis isolated diffuse palmoplantar keratoderma, autosomal recessive autosomal recessive isolated diffuse palmoplantar keratoderma MONDO:0020099 https://github.com/monarch-initiative/mondo/pull/2076 constitutional sideroblastic anemia We are pretty sure Orphanet means inherited/hereditary. This was renamed from constitutional sideroblastic anemia. inherited sideroblastic anemia MONDO:0020102 hereditary stomatocytic disease hereditary stomatocytosis MONDO:0020108 Autoimmune hemolytic anemia (AIHA) is an autoimmune disorder in which various types of auto-antibodies are directed against red blood cells causing their survival to be shortened and resulting in hemolytic anemia. AHA AIHA autoimmune haemolytic anaemia autoimmune hemolytic anemia acquired autoimmune hemolytic anemia anemia hemolytic autoimmune anemia, autoimmune hemolytic familial auto-immune hemolytic anemia (subtype) idiopathic autoimmune hemolytic anemia immuno-hemolytic anemia autoimmune hemolytic anemia MONDO:0020110 An uncommon congenital abnormality characterized by either lethal complete absence of the lungs or varying degrees of underdevelopment of the lung parenchyma. It may be associated with other congenital abnormalities. congenital absence of lung congenital lung agenesis unilateral lobar pulmonary agenesis unilateral lung agenesis pulmonary agenesis MONDO:0020112 vitamin B12- and folate-independent constitutional megaloblastic anemia MONDO:0020113 red cell aplasia primary autoimmune red cell aplasia primary acquired red cell aplasia MONDO:0020115 Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia). secondary erythrocytosis secondary polycythemia secondary polycythemia MONDO:0020117 alpha granule disease MONDO:0020118 Delta granule disease dense granule disease MONDO:0020119 A syndromic intellectual disability with an X-linked mode of inheritance. https://github.com/monarch-initiative/mondo/issues/5588 X-linked syndromic intellectual disability intellectual disability, X-linked syndromic mental retardation, X-linked syndromic syndromic X-linked intellectual disability syndromic X-linked mental retardation syndromic intellectual disability, X-linked X-linked syndromic intellectual disability MONDO:0020120 A disease involving the skeletal muscle tissue. disease of skeletal muscle tissue disease or disorder of skeletal muscle tissue disorder of skeletal muscle tissue skeletal muscle tissue disease skeletal muscle tissue disease or disorder skeletal muscle disorder MONDO:0020121 Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities. muscular dystrophy https://rarediseases.info.nih.gov/diseases/7922/muscular-dystrophy MONDO:0020122 An umbrella term for diseases which have chronic muscle inflammation and weakness of unknown etiology. The types of idiopathic inflammatory myopathy are further defined by either clinicopathologic criteria or by the presence of certain autoantibodies. IIm IMM idiopathic inflammatory myopathies idiopathic inflammatory myositis idiopathic inflammatory myopathy, familial acquired idiopathic inflammatory myopathy MONDO:0020123 A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction. metabolic myopathy MONDO:0020124 Conditions characterized by impaired transmission of impulses at the neuromuscular junction. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or acetylcholinesterase activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions. neuromuscular junction disease MONDO:0020125 An instance of neuromuscular junction disease that is acquired during the lifetime of the individual. acquired neuromuscular junction disease acquired neuromuscular junction disease MONDO:0020127 Genetic peripheral neuropathy. https://github.com/monarch-initiative/mondo/issues/5114 2022-09-01 genetic peripheral neuropathy Reason: out of scope. MONDO:excludeGeneticFormOfDisease and MONDO:excludeGroupingClass. Term to consider: MONDO:0005244 peripheral neuropathy genetic peripheral neuropathy MONDO:0020128 A disease involving the motor neuron. anterior horn cell disease disease of motor neuron disease or disorder of motor neuron disorder of motor neuron motor neuron disease motor neuron disease or disorder motor neuron disorder MONDO:0020129 An instance of motor neuron disease that is acquired during the lifetime of the individual. acquired anterior horn cell disease acquired motor neuron disease acquired motor neuron disease MONDO:0020130 malformation of the cerebellar vermis MONDO:0020131 malformation of the cerebellar hemispheres MONDO:0020132 cranial nerve and nuclear aplasia MONDO:0020133 posterior fossa malformation MONDO:0020134 cystic malformation of the posterior fossa MONDO:0020135 Pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described, generally inherited in an autosomal recessive pattern. PCH pontocerebellar hypoplasia pontoneocerebellar atrophy pontoneocerebllar hypoplasia isolated pontocerebellar hypoplasia nonsyndromic pontocerebellar hypoplasia pontocerebellar hypoplasia https://rarediseases.info.nih.gov/diseases/10977/pontocerebellar-hypoplasia MONDO:0020143 cerebral lipidosis cerebral lipidosis with dementia MONDO:0020144 rare cerebrovascular dementia cerebrovascular dementia MONDO:0020145 developmental defect of the eye MONDO:0020146 major induction processes eye anomaly MONDO:0020147 anophthalmia-microphthalmia syndrome MONDO:0020148 A aniridia that is part of a larger syndrome. syndrome associated with aniridia syndromic aniridia syndromic aniridia MONDO:0020153 A congenital abnormality characterized by the presence of a continuous layer of skin extending over the eyeballs and the absence of eyelids and the palpebral fissure. cryptophthalmos cryptophthalmia MONDO:0020154 microblepharon-ablephara syndrome MONDO:0020155 eyelid border anomaly MONDO:0020156 syndromic ankyloblepharon MONDO:0020157 syndromic palpebral coloboma MONDO:0020158 eyelids malposition disorder MONDO:0020159 https://github.com/monarch-initiative/mondo/issues/4069 congenital entropion MONDO:0020160 secondary entropion MONDO:0020161 https://github.com/monarch-initiative/mondo/issues/4069 congenital ectropion MONDO:0020162 secondary ectropion MONDO:0020163 canthal anomaly MONDO:0020164 epicanthal fold MONDO:0020165 syndromic epicanthus MONDO:0020167 malposition of external canthus MONDO:0020172 A neoplasm (disease) that involves the skin of eyelid. neoplasm of skin of eyelid skin of eyelid neoplasm skin of eyelid neoplasm (disease) skin of eyelid tumor tumor of skin of eyelid palpebral epidermal tumor MONDO:0020173 A benign neoplasm that involves the skin of eyelid. skin of eyelid benign neoplasm benign tumor of palpebral epidermis MONDO:0020174 A precancerous condition that involves the skin of eyelid. skin of eyelid precancerous condition precancerous lesion of palpebral epidermis MONDO:0020175 A cancer that involves the skin of eyelid. cancer of skin of eyelid malignant neoplasm of skin of eyelid malignant skin of eyelid neoplasm skin of eyelid cancer malignant tumor of palpebral epidermis MONDO:0020176 A neoplasm (disease) that involves the sebaceous gland of eyelid. neoplasm of sebaceous gland of eyelid sebaceous gland of eyelid neoplasm sebaceous gland of eyelid neoplasm (disease) sebaceous gland of eyelid tumor tumor of sebaceous gland of eyelid palpebral sebaceous gland tumor MONDO:0020177 pigmented eyelid tumor pigmented palpebral neoplasm pigmented palpebral tumor MONDO:0020178 A lentigo that involves the skin of eyelid. skin of eyelid lentigo palpebral lentiginosis MONDO:0020179 A melanocytic nevus that involves the skin of eyelid. eyelid nevus melanocytic nevus of skin of eyelid nevus of eyelid nevus of the eyelid skin of eyelid melanocytic nevus palpebral nevus MONDO:0020180 palpebral piliary tumor MONDO:0020181 mesenchymatous palpebral tumor MONDO:0020183 neurogenic palpebral tumor MONDO:0020193 disease of lacrimal gland disorder of lacrimal gland lacrimal gland disease secretory apparatus of the lacrimal system anomaly MONDO:0020194 https://github.com/monarch-initiative/mondo/issues/4069 congenital alacrima MONDO:0020195 excretory apparatus of the lacrimal system anomaly MONDO:0020196 anomaly of the secretory and excretory apparatus of the lacrimal system MONDO:0020197 Editor note: check this EEC syndrome and related syndrome MONDO:0020203 pigmented conjunctival lesion MONDO:0020204 A benign or malignant neoplasm that affects the conjunctiva. Representative examples include papilloma, squamous cell carcinoma, and melanoma. conjunctiva neoplasm conjunctiva neoplasm (disease) conjunctiva tumor conjunctival neoplasm conjunctival neoplasms conjunctival tumor neoplasm of conjunctiva neoplasm of the conjunctiva tumor of conjunctiva tumor of the conjunctiva conjunctival tumor MONDO:0020205 bulbar conjunctival dermoid or conjunctival dermolipoma MONDO:0020210 A hyperopia that is part of a larger syndrome. syndrome associated with hyperopia syndromic hyperopia syndromic hyperopia MONDO:0020211 A keratoconus (disease) that is part of a larger syndrome. syndrome associated with keratoconus (disease) syndromic keratoconus (disease) syndromic keratoconus MONDO:0020212 The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy. anterior corneal dystrophy corneal epithelium corneal dystrophy (disease) dystrophy of anterior cornea superficial corneal dystrophy MONDO:0020213 The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy. corneal dystrophy (disease) of substantia propria of cornea corneal stromal dystrophy substantia propria of cornea corneal dystrophy (disease) stromal dystrophy stromal corneal dystrophy MONDO:0020214 Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy. posterior corneal dystrophy MONDO:0020215 A corneal dystrophy (disease) that is part of a larger syndrome. syndrome associated with corneal dystrophy (disease) syndromic corneal dystrophy (disease) syndromic corneal dystrophy MONDO:0020216 A hereditary disease that is associated with congenital ocular anomalies such as conditions associated with mesodermal dysgenesis of the neural crest, phakomatoses characterized by hamartomas, metabolic disorders, mitotic disorders, and other congenital disorders and associated with acquired conditions such as tumors, uveitis, and trauma. secondary congenital glaucoma secondary dysgenetic glaucoma MONDO:0020219 corneogoniodysgenesis MONDO:0020235 lens size anomaly MONDO:0020237 lens shape anomaly MONDO:0020238 genetic vitreoretinal disease genetic vitreous-retinal disease inherited vitreous-retinal disease MONDO:0020240 A retinitis pigmentosa that is part of a larger syndrome. syndrome associated with retinitis pigmentosa syndromic retinitis pigmentosa syndromic retinitis pigmentosa MONDO:0020242 Macular dystrophy that is related to a change in a gene. genetic macular dystrophy genetic macular dystrophy (disease) genetic macular dystrophy MONDO:0020245 disease predisposing to age-related macular degeneration MONDO:0020246 inherited vitreoretinopathy MONDO:0020247 https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4407 vitreoretinal dysplasia congenital vitreoretinal dysplasia MONDO:0020248 https://github.com/monarch-initiative/mondo/issues/4407 degenerative vitreoretinopathy vitreoretinal degeneration https://rarediseases.info.nih.gov/diseases/5506/vitreoretinal-degeneration MONDO:0020249 hereditary optic neuropathy MONDO:0020250 An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss. ADOA DOA optic atrophy, autosomal dominant dominant optic atrophy autosomal dominant optic atrophy MONDO:0020252 essential strabismus MONDO:0020256 congenital CNIV palsy congenital fourth cranial nerve palsy congenital superior oblique palsy congenital trochlear nerve palsy MONDO:0020257 Oculomotor palsy that arises from lesions in the supranuclear pathways controlling extraocular movement. conjugate gaze palsy gaze palsy supranuclear disorder of eye movement supranuclear ocular palsy Editor note: TODO review literature. Consider relationship to ocular nerve, supranuclear pathway includes other nerves supranuclear oculomotor palsy MONDO:0020275 Albinism that affects the eyes, including ocular albinism and oculocutaneous albinism. oculocutaneous or ocular albinism MONDO:0020283 An inflammatory process affecting a part of or the entire uvea. Causes include inflammatory agents (e.g., herpes simplex, herpes zoster, leptospirosis) and systemic diseases (e.g., inflammatory bowel disease, multiple sclerosis, systemic lupus erythematosus, ankylosing spondylitis). Patients present with pain and redness in the eye, light sensitivity, and blurred and decreased vision. uveitis (disease) inflammation of uvea uvea inflammation uveitis uveitis (disease) uveitis MONDO:0020284 heart position anomaly MONDO:0020285 transposition of the great arteries and conotruncal cardiac anomaly MONDO:0020286 aortic malformation MONDO:0020287 pulmonary artery or pulmonary branch anomaly MONDO:0020288 atrioventricular valve anomaly MONDO:0020289 https://github.com/monarch-initiative/mondo/issues/4069 congenital tricuspid malformation MONDO:0020290 A spectrum of septal defects involving the atrial septum; ventricular septum; and the atrioventricular valves (tricuspid valve; bicuspid valve). These defects are due to incomplete growth and fusion of the endocardial cushions which are important in the formation of two atrioventricular canals, site of future atrioventricular valves. AV septal defect AVCD AVSD ECD atrioventricular canal defect atrioventricular septal defect common AV canal common atrioventricular canal endocardial cushion defect atrioventricular septal defect MONDO:0020291 Hypoplastic right-heart syndrome (HRHS) is a rare, cyanotic congenital heart malformation caused by underdevelopment of the right-sided heart structures (tricuspid valve, RV, pulmonary valve, and pulmonary artery) commonly associated with an atrial septal defect, ostium secundum type. Pulmonary blood flow is diminished and right-to-left shunting occurs at the atrial level, leading to dyspnea, fatigue, atrial arrhythmias, right-sided heart failure, hypoxemia, repeated miscarriages that were mostly due to hypoxemia and cyanosis. Two subtypes of HRHS have been characterized: pulmonary atresia-intact ventricular septum and right ventricular hypoplasia. right hypoplastic heart syndrome hypoplastic right heart syndrome https://rarediseases.info.nih.gov/diseases/2922/hypoplastic-right-heart-syndrome MONDO:0020292 https://github.com/monarch-initiative/mondo/issues/4069 congenital aorta, aortic arch or pulmonary arteries anomaly congenital anomaly of the great arteries MONDO:0020293 ascending aorta anomaly MONDO:0020294 atrial defect and interauricular communication rare atrial defect and interatrial communication atrial defect and interatrial communication MONDO:0020295 Aberrant drainage of one or more of the pulmonary veins which causes the return of oxygen-rich blood to the right atrium. https://github.com/monarch-initiative/mondo/issues/4069 congenital anomaly of pulmonary veins pulmonary vein abnormality congenital pulmonary veins anomaly MONDO:0020296 An abnormal, epithelial-lined connection between an artery and vein that is present at the time of birth. https://github.com/monarch-initiative/mondo/issues/4069 congenital arteriovenous fistula MONDO:0020297 Noonan syndrome and Noonan-related syndrome MONDO:0020298 Prader-Willi syndrome due to maternal uniparental disomy of chromosome type 15 UPD(15)mat Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 MONDO:0020300 Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief. ADNFLE ENFL autosomal dominant nocturnal frontal lobe epilepsy MONDO:0020301 https://github.com/monarch-initiative/mondo/issues/3664 Prader-Willi syndrome due to paternal 15q11q13 deletion MONDO:0020302 https://github.com/monarch-initiative/mondo/issues/3664 Angelman syndrome due to maternal monosomy 15q11q13 Angelman syndrome due to maternal 15q11q13 deletion MONDO:0020303 Angelman syndrome due to paternal uniparental disomy of chromosome type 15 UPD(15)pat Angelman syndrome due to paternal uniparental disomy of chromosome 15 MONDO:0020304 Isochromosomy Yp is a rare gonosome anomaly characterized by various clinical presentations including normal healthy fertile males, male phenotype with infertility, and males with ambiguous genitalia or incomplete masculinization. isochromosomy Yp MONDO:0020305 Isochromosomy Yq is a rare gonosomy anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features and male phenotype with infertility due to azoospermia. isochromosomy Yq MONDO:0020307 Benign childhood occipital epilepsy, Panayiotopoulos type is a rare, genetic neurological disorder characterized by late infancy to early-adolescence onset of prolonged, nocturnal seizures which begin with autonomic features (e.g. vomiting, pallor, sweating) and associate tonic eye deviation, impairment of consciousness and may evolve to a hemi-clonic or generalized convulsion. Autonomic status epilepticus may be the only clinical event in some cases. Panayiotopoulos syndrome early-onset benign childhood occipital epilepsy benign childhood occipital epilepsy, Panayiotopoulos type MONDO:0020308 Benign childhood occipital epilepsy, Gastaut type is a rare, genetic neurological disorder characterized by childhood to mid-adolescence onset of frequent, brief, diurnal simple partial seizures which usually begin with visual hallucinations (e.g. phosphenes) and/or ictal blindness and may associate non visual seizures (such as deviation of the eyes, oculoclonic seizures), forced eyelid closure and blinking and sensory hallucinations. Post-ictal headache is common while impairment of consciousness is rare. late-onset benign childhood occipital epilepsy benign childhood occipital epilepsy, Gastaut type MONDO:0020310 Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietaloccipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability, autistic spectrum disorder and obsessive-compulsive disorder have been described. epilepsy, familial focal, with variable foci familial focal epilepsy with variable foci familial partial epilepsy with variable foci FFEVF familial focal epilepsy with variable foci MONDO:0020311 A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement. https://github.com/monarch-initiative/mondo/issues/5507 CMML chronic myelomonocytic leukemia chronic myelomonocytic leukemia (CMML) chronic myelomonocytic leukemia MONDO:0020316 Acute myelomonocytic leukemia (AMML) is a cancer that typically develops in the bone marrow and blood of older individuals.AMML is one type of acute myeloid leukemia, a group of blood cancers that occur when the amount of white blood cells increases rapidly. Symptoms of AMML often include fatigue (due to anemia) or easy bruising or bleeding (due to thrombocytopenia). The cause of AMML is currently unknown. Treatment typically consists of chemotherapy. AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) CBFB-MYH11 acute myelomonocytic leukemia acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) https://rarediseases.info.nih.gov/diseases/536/acute-myeloid-leukemia-with-abnormal-bone-marrow-eosinophils-inv16p13q22-or-t1616p13q22 MONDO:0020317 An acute myeloid leukemia associated with t(9;11)(p22.3;q23.3) and MLLT3-KMT2A fusion protein expression. Morphologically it usually has monocytic features. It may present at any age but it is more commonly seen in children. Patients may present with disseminated intravascular coagulation. AML with 11q23 abnormalities AML with t(9;11)(p22;q23); MLLT3-MLL acute myeloid Leukemia with t(9;11)(p21.3;q23.3); MLLT3-KMT2A acute myeloid leukemia with 11q23 (MLL) abnormalities acute myeloid leukemia with MLL abnormalities acute myeloid leukemia with t(9;11)(p22.3;q23.3); MLLT3-KMT2A acute myeloid leukemia with t(9;11)(p22;q23); MLLT3-MLL acute myeloid leukemia with 11q23 abnormalities MONDO:0020320 An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. (WHO, 2001) AML M2 AML with maturation FAB M2 M2 acute granulocytic leukemia M2 acute myeloblastic leukemia M2 acute myeloblastic leukemia with maturation M2 acute myelocytic leukemia with maturation M2 acute myelogenous leukemia M2 acute myelogenous leukemia with maturation M2 acute myeloid leukemia M2 acute myeloid leukemia with maturation acute M2 myeloid leukemia acute myeloblastic leukemia M2 acute myelocytic leukemia with maturation acute myelogenous leukemia with maturation acute myeloid leukemia (AML-M2) acute myeloid leukemia with maturation AM LAM M2 acute myeloblastic leukemia type 2 acute myeloblastic leukemia with maturation https://rarediseases.info.nih.gov/diseases/527/acute-myeloblastic-leukemia-with-maturation MONDO:0020321 A rare acute leukemia of ambiguous lineage in which the blasts do not express markers specific to myeloid or lymphoid lineage. acute myeloid leukemia, minimal differentiation, FAB M0 acute undifferentiated leukemia leukemia stem cell stem cell acute leukemia stem cell leukemia undifferentiated acute leukemia AUL acute undifferentiated leukemia MONDO:0020322 An acute leukemia of ambiguous lineage characterized by blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens. (WHO, 2001) B- and T-cell mixed leukemia acute biphenotypic leukemia MONDO:0020323 A large B-cell non-Hodgkin lymphoma arising in the mediastinum. Morphologically it is characterized by a massive diffuse lymphocytic proliferation associated with compartmentalizing fibrosis. Response to intensive chemotherapy, with or without radiotherapy, is usually good. (WHO, 2001) B-cell diffuse large cell lymphoma of mediastinum B-cell diffuse large cell lymphoma of the mediastinum Med-DLBCL PMBL PMLCL large cell lymphoma of the mediastinum mediastinal (thymic) large B-cell lymphoma mediastinal B-cell diffuse large cell lymphoma mediastinal diffuse large cell lymphoma with sclerosis mediastinal diffuse large-cell lymphoma with sclerosis mediastinal large B-cell lymphoma primary mediastinal clear cell lymphoma of B-cell type primary mediastinal large B-cell lymphoma primary mediastinal (thymic) large B-cell lymphoma primary mediastinal B-cell lymphoma primary mediastinal large B-cell lymphoma MONDO:0020324 Intravascular large B-cell lymphoma (IVLBCL) is a very rare form of diffuse large B-cell lymphoma characterized by the selective growth of lymphoma cells within the lumina of small blood vessels (especially the capillaries) that most often presents with a wide range of clinical manifestations (as potentially any tissue can be involved), with patients from Western countries more frequently manifesting with neurological and cutaneous symptoms while patients from Asian countries more frequently displaying hepatosplenomegaly and thrombocytopenia. IVLBCL is characterized by an absence of lymphadenopathy, an aggressive clinical course and a poor prognosis. Tappeiner-Pfleger disease angioendotheliomatosis proliferans systemisata angiotropic large cell lymphoma angiotropic lymphoma intravascular B-cell lymphoma intravascular large B-cell lymphoma intravascular lymphomatosis malignant angioendotheliomatosis IVBCL intravascular large B-cell lymphoma MONDO:0020325 Anaplastic large cell lymphoma (ALCL) is a rare and aggressive peripheral T-cell non-Hodgkin lymphoma, belonging to the group of CD30-positive lymphoproliferative disorders, which affects lymph nodes and extranodal sites. It is comprised of two sub-types, based on the expression of a protein called anaplastic lymphoma kinase (ALK): ALK positive and ALK negative ALCL. ALCL CD30 Positive anaplastic large cell lymphoma CD30 positive anaplastic large cell lymphoma Ki-1 lymphoma Ki-1 positive anaplastic large cell lymphoma Ki-1+ ALCL Ki-1+ anaplastic large cell lymphoma anaplastic large cell lymphoma primary systemic ALCL sACL anaplastic large cell lymphoma https://rarediseases.info.nih.gov/diseases/3112/anaplastic-large-cell-lymphoma MONDO:0020326 Lymphomatoid papulosis (LyP) is a rare cutaneous condition characterized by chronic, recurrent, and self-regressing papulonodular skin eruptions. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders, along with primary cutaneous anaplastic large cell lymphoma (primary C-ALCL) with which it shares overlapping clinical and histopathologic features. LyP LYP lymphomatoid papulosis https://rarediseases.info.nih.gov/diseases/6944/lymphomatoid-papulosis MONDO:0020327 classic Hodgkin lymphoma, nodular sclerosis type MONDO:0020331 Indolent systemic mastocytosis (ISM) is a benign form of systemic mastocytosis (SM) characterized by an abnormal proliferation of mast cells either only in bone marrow or in numerous tissues. indolent systemic mastocytosis (morphologic abnormality) ism indolent systemic mastocytosis MONDO:0020332 Systemic mastocytosis with an associated clonal hematological non-mast cell lineage disease is a form of systemic mastocytosis (SM) associated with malignancy (other than mast cell leukemia). SM-AHN SM-AHNMD SMAHN systemic mastocytosis with an associated hematological neoplasm systemic mastocytosis with an associated hematological neoplasm (SM-AHN) systemic mastocytosis with associated clonal haematological non-mast cell lineage disease systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease (morphologic abnormality) systemic mastocytosis with associated hematologic neoplasm systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease MONDO:0020333 Aggressive systemic mastocytosis (ASM) is a severe and rare form of systemic mastocytosis (SM) characterized by considerable infiltration of mast cells in different tissues. ASM aggressive systemic mastocytosis (morphologic abnormality) lymphadenopathic mastocytosis with eosinophilia aggressive systemic mastocytosis MONDO:0020334 Mast cell leukemia is a malignant form of systemic mastocytosis (SM) characterized, most of the time, by the presence of circulating mast cells. Mast cell leukemia aleukemic mast cell leukemia mast-cell leukemia SMMCL mast cell leukemia MONDO:0020336 Autosomal dominant form of Emery-Dreifuss muscular dystrophy. Emery-Dreifuss muscular dystrophy, autosomal dominant autosomal dominant Emery-Dreifuss muscular dystrophy EDMD2 autosomal dominant Emery-Dreifuss muscular dystrophy MONDO:0020337 Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis. https://github.com/monarch-initiative/mondo/issues/4069 CDA I CDA type 1 CDA type I congenital dyserythropoietic anemia type 1 anemia, dyserythropoietic, congenital type 1 dyserythropoietic anemia, congenital type 1 type I congenital dyserythropoietic anemia congenital dyserythropoietic anemia type 1 MONDO:0020338 Adult pure red cell aplasia is a rare acquired aplastic anemia characterized by a severe normocytic anemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoesis and megakaryopoesis. It presents with signs of severe anemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnea) in the absence of hemorrhagic symptoms. adult pure red-cell aplasia pure red-cell aplasia of adults acquired PRCA acquired pure red cell aplasia idiopathic pure red cell aplasia adult pure red cell aplasia MONDO:0020339 Complex X-linked HSP Complex X-linked SPG X-linked complicated spastic paraplegia complicated X-linked HSP complicated X-linked SPG X-linked complex spastic paraplegia MONDO:0020340 bilateral perisylvian polymicrogyria MONDO:0020341 Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males. periventricular heterotopia periventricular nodular heterotopia periventricular nodular heterotopia MONDO:0020342 https://github.com/monarch-initiative/mondo/issues/4069 actin myopathy congenital myopathy with excess of thin filaments MONDO:0020343 CRYAB-related myofobrillar myopathy alpha-crystallinopathy MONDO:0020344 https://github.com/monarch-initiative/mondo/issues/4069 postsynaptic congenital myasthenic syndromes postsynaptic congenital myasthenic syndrome MONDO:0020345 presynaptic congenital myasthenic syndromes presynaptic congenital myasthenic syndrome MONDO:0020346 synaptic congenital myasthenic syndromes synaptic congenital myasthenic syndrome MONDO:0020347 An inflammatory neuropathy belonging to the clinical spectrum of Guillain-Barre syndrome (GBS). https://github.com/monarch-initiative/mondo/issues/3467#issuecomment-894502830 AIDP GBS, acute inflammatory demyelinating polyradiculoneuropathic form Guillain-Barre syndrome, acute inflammatory demyelinating polyradiculoneuropathic form Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form acute idiopathic demyelinating polyneuropathy acute inflammatory demyelinating polyradiculopathy acute inflammatory polyneuropathy Editor note: check this acute inflammatory demyelinating polyradiculoneuropathy MONDO:0020348 Acute motor-sensory axonal neuropathy (AMSAN) is a motor-sensory, axonal form of Guillain-BarrC) syndrome (GBS). AMSAN acute motor-sensory axonal GBS acute motor-sensory axonal Guillain-BarrC) syndrome acute motor-sensory axonal Guillain-Barré syndrome acute motor-sensory axonal neuropathy acute motor and sensory axonal neuropathy MONDO:0020349 Acute motor axonal neuropathy (AMAN) is a pure motor axonal form of Guillain-BarrC) syndrome (GBS). AMAN acute pure motor GBS acute pure motor Guillain-Barre syndrome acute pure motor Guillain-Barré syndrome acute motor axonal neuropathy MONDO:0020351 Blake pouch cyst is a non-syndromic, usually benign, cystic malformation of the posterior fossa characterized by a midline outpouching of the superior medullary velum into the cisterna magna that results from failure of the rudimental fourth ventricular tela choroidea to regress during embryogenesis. Patients can be asymptomatic or present in childhood or adulthood with clinical manifestations of hydrocephalus, such as headache, hypotonia, vertigo, syncope, vomiting, blurred or double vision, nystagmus, papilledema, and delayed gait development. Blake pouch cyst MONDO:0020352 Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability). MSA, parkinsonian type MSA-p multiple system atrophy, parkinsonian type MONDO:0020353 von Hippel anomaly MONDO:0020354 Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated. choroidal coloboma retinal coloboma retinochoroidal coloboma coloboma of choroid and retina MONDO:0020355 coloboma of eye lens https://rarediseases.info.nih.gov/diseases/1433/coloboma-of-eye-lens MONDO:0020356 A congenital or acquired defect characterized by the presence of a hole in or adjacent to the iris. coloboma of iris (disease) coloboma of iris coloboma of iris (disease) coloboma of the iris coloboma of iris MONDO:0020357 A congenital abnormality in which a part of the upper or lower eyelid tissue is missing. coloboma of the eyelid coloboma of eyelid MONDO:0020359 https://github.com/monarch-initiative/mondo/issues/4069 congenital symblepharon MONDO:0020360 complete cryptophthalmia MONDO:0020361 partial cryptophthalmia MONDO:0020362 Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported. inverse Marcus-Gunn phenomenon MONDO:0020363 honey-droplet corneal dystrophy MONDO:0020364 Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision. PPCD Schlichting dystrophy corneal dystrophy, posterior polymorphous hereditary polymorphus posterior corneal dystrophy posterior polymorphous dystrophy posterior polymorphous corneal dystrophy MONDO:0020365 Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision. CHED1 CHEDI autosomal dominant CHED autosomal dominant congenital hereditary endothelial dystrophy congenital hereditary endothelial dystrophy type 1 congenital hereditary endothelial dystrophy type I MONDO:0020366 A developmental glaucoma that results from the abnormal development of the aqueous drainage structure, characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, and presenting clinically with the characteristic triad of epiphora, photophobia and blepharospasm. https://github.com/monarch-initiative/mondo/issues/4069 Buphthalmus buphthalmia buphthalmos primary congenital glaucoma Editor note: check placement of subclasses congenital glaucoma MONDO:0020367 Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment. JOAG childhood glaucoma (disease) glaucoma (disease) of childhood glaucoma of childhood juvenile glaucoma pediatric glaucoma (disease) juvenile open angle glaucoma MONDO:0020368 Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced Schwalbe's line and iris bands extending into the cornea. In contrast, Rieger's anomaly includes characteristic iris and pupil anomalies. https://github.com/monarch-initiative/mondo/issues/4397 Axenfeld anomaly MONDO:0020369 Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome, is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy. Chandler's syndrome dystrophy of corneal endothelium endothelial corneal dystrophy posterior membrane corneal dystrophy Chandler syndrome MONDO:0020370 Cogan-Reese syndrome is a clinical variant of iridocorneal endothelial (ICE) syndrome characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease. Cogan-Reese syndrome https://rarediseases.info.nih.gov/diseases/6125/cogan-reese-syndrome MONDO:0020371 Essential iris atrophy is a clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease. essential iris atrophy MONDO:0020372 early-onset cataract with Y-shaped suture opacities early-onset sutural cataract MONDO:0020373 early-onset anterior subcapsular cataract cataract anterior polar early-onset anterior polar cataract MONDO:0020374 Cerulean cataract is a type of hereditary congenital cataract distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens. blue-dot cataract cataract, congenital, blue dot type 1 cataract, congenital, cerulean type 1 cerulean cataract MONDO:0020375 coralliform cataract MONDO:0020376 early-onset nuclear cataract MONDO:0020377 early-onset partial cataract MONDO:0020378 early-onset posterior polar cataract MONDO:0020379 early-onset zonular cataract https://rarediseases.info.nih.gov/diseases/1898/early-onset-zonular-cataract MONDO:0020380 A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy. https://github.com/monarch-initiative/mondo/pull/2571/ SCA spinocerebellar ataxia ADCA autosomal dominant spinocerebellar ataxia cerebellar ataxia, autosomal dominant Pierre Marie cerebellar ataxia (formerly) autosomal dominant cerebellar ataxia MONDO:0020381 A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped. https://github.com/monarch-initiative/mondo/issues/1819 macular dystrophy, patterned patterned dystrophy of retinal pigment epithelium patterned macular dystrophy MONDO:0020382 Multifocal pattern dystrophy simulating fundus flavimaculatus is a patterned dystrophy of the retinal pigment epithelium characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease, and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age. multifocal pattern dystrophy simulating Stargardt disease multifocal pattern dystrophy simulating fundus flavimaculatus MONDO:0020383 Fundus pulverulentus is a rare form of patterned dystrophy of the retinal pigment epithelium characterized by a granular appearance in the macula, with coarse and punctiform mottling of the retinal pigment epithelium within the macular region. Association with choroidal neovascularization has been reported. fundus pulverulentus MONDO:0020384 Niemann-Pick disease, type E is a poorly defined adult-onset and non-neuronopathic form of Niemann-Pick disease. Niemann-Pick disease type E MONDO:0020385 https://github.com/monarch-initiative/mondo/issues/4069 TGA with coarctation congenitally uncorrected transposition of the great vessels with coarctation congenitally uncorrected transposition of the great arteries with coarctation MONDO:0020386 DORV with subaortic or doubly committed VSD with pulmonary stenosis DORV, Fallot type double outlet right ventricle, Fallot type double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis MONDO:0020387 DORV with subpulmonary VSD DORV-TGA Double outlet right ventricle with transposition of the great arteries Taussig-Bing syndrome double outlet right ventricle with subpulmonary ventricular septal defect MONDO:0020388 DORV with non-committed subpulmonary VSD double outlet right ventricle with non-committed subpulmonary ventricular septal defect MONDO:0020389 APV/PDA, non-Fallot type PVA/PDA, non-Fallot type absence of pulmonary valve-ventricular septal defect-persistent ductus arteriosus syndrome pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome MONDO:0020390 pulmonary artery coming from patent ductus arteriosus MONDO:0020391 Pulmonary artery coming from the aorta (PACA) is a cardiac malformation characterized by anomalous origin of one branch of the pulmonary arteries from the ascending aorta and a normal origin of the other pulmonary artery from the right ventricular outflow tract, and presenting with respiratory distress, congestive heart failure and failure to thrive within the first days/months of life. abnormal origin of right or left pulmonary artery from the aorta hemitruncus arteriosus pulmonary artery coming from the aorta https://rarediseases.info.nih.gov/diseases/4586/pulmonary-artery-coming-from-the-aorta MONDO:0020392 discrete fixed membranous subaortic stenosis MONDO:0020393 discrete fibromuscular subaortic stenosis MONDO:0020394 tunnel subaortic stenosis MONDO:0020395 A congenital cardiovascular malformation of the pulmonary valve in which there is narrowing or stricture (obstruction to flow). valvar pulmonary stenosis MONDO:0020396 Anomaly of the tricuspid valve chordae is a rare, congenital anomaly of the tricuspid subvalvular apparatus characterized by aberrant tendinous chords, which insert at the clear zone of the leaflet instead of its free edge and connect to the endocardium instead of the papillary muscles. Resulting tethering of one or more tricuspid leaflets leads to their impaired mobility and tricuspid regurgitation. Association with other congenital cardiac anomalies has been reported. anomaly of the tricuspid valve chordae MONDO:0020397 Parachute tricuspid valve is a rare congenital heart malformation defined as an insertion of the chordal apparatus into a single papillary muscle or a muscle group, making a pathognomonic 'pear' shape sign in the four-chamber echocardiographic view with the atrium forming the larger base of the pear and the leaflets the apex. Isolated parachute tricuspid valve may be asymptomatic or present with symptoms of tricuspid stenosis (diastolic inspiratory murmur, pulsation of jugular veins, hepatomegaly, edema, epigastric discomfort, right atrial enlargement, right ventricular hypertrophy, electrocardiography abnormalities). It may also be associated with other heart malformations and present with symptoms of the complex of malformations. parachute tricuspid valve MONDO:0020398 Congenital mitral stenosis is a congenital heart malformation comprising a spectrum of morphologically heterogeneous developmental anomalies that result in functional and anatomic obstruction of inflow into the left ventricle. The structure of the mitral valve is affected at the level of the supravalvular ring, annulus, leaflets or subvalvar copmponents and include supra-valvular ring, leaflet fusion (intra-leaflet ring), mitral parachute deformity and papillary muscle abnormalities. It may be isolated or associated with other heart malformations. The clinical presentation depends on the degree of obstruction, the presence of regurgitation, the presence and severity of associated pulmonary hypertension, and the presence of associated heart malformations. It may present with symptoms and signs of low cardiac output and right ventricular failure such as pulmonary infections, failure to thrive, exertional dyspnoea, cough, cyanosis and congestive heart failure. https://github.com/monarch-initiative/mondo/issues/4069 congenital mitral stenosis (disease) congenital mitral stenosis congenital mitral stenosis (disease) congenital mitral valve stenosis hereditary mitral valve stenosis congenital mitral stenosis MONDO:0020399 Hypoplasia of the mitral valve annulus is a rare, congenital, mitral valve malformation characterized by hypoplastic annulus which usually appears within a complete mitral valve hypoplasia, causing mitral valve stenosis. Association with other cardiac malformation is common, including coarctation of the aorta, aortic valve stenosis, Shone complex and hypoplastic left heart syndrome. https://github.com/monarch-initiative/mondo/issues/4069 congenital hypoplasia of the mitral valve annulus MONDO:0020400 Congenital supravalvular mitral ring is a rare, congenital, mitral valve malformation characterized by an abnormal ridge of the connective tissue on the atrial side of the mitral valve, which can present clinically with signs and symptoms of left ventricle inflow obstruction (dyspnea, tachypnea, pulmonary hypertension, right ventricle hypertrophy, pulmonary edema). Association with other mitral valve anomalies, aortic stenosis, ventricular septal defect, patent ductus arteriosus, double-outlet right ventricle, pulmonary hypertension, and Shone complex has been reported. https://github.com/monarch-initiative/mondo/issues/4069 congenital supravalvular mitral ring MONDO:0020401 Congenital unguarded mitral orifice is a rare, congenital, mitral valve malformation characterized by complete absence of mitral valve leaflets and tensor apparatus at the mitral annulus, which can present clinically with cyanosis, heart murmur, electrocardiogram abnormalities, mild cardiomegaly, or congestive heart failure. Association with heterotaxy, discordant atrioventricular connections, double-outlet right ventricle, pulmonary atresia or stenosis, thin left ventricular wall, and hypoplastic left heart syndrome has been reported. https://github.com/monarch-initiative/mondo/issues/4069 congenital unguarded mitral orifice MONDO:0020402 Accessory mitral valve tissue is a congenital non-syndromic heart malformation defined as an accessory mitral valve leaflet or various accessory mitral valve structures. It may be asymptomatic or present at various ages with symptoms of left ventricular outflow tract obstruction, low cardiac output due to subaortic obstruction or congestive heart failure. In some cases, it may be a source of cardioembolism. The malformation may be isolated or associated with other congenital heart malformations. congenital accessory mitral valve tissue MONDO:0020403 Mitral valve agenesis is a rare congenital heart malformation defined as an agenesis or severe hypoplasia of both mitral valve leaflets (complete agenesis) or one of the leaflets (partial agenesis). Complete mitral valve agenesis presents in the neonatal period with symptoms of severe mitral regurgitation and is rapidly fatal unless surgically treated. It is frequently associated with other heart malformations. Partial mitral valve agenesis may present at various ages, usually with symptoms of mitral regurgitation. congenital mitral valve agenesis MONDO:0020404 A congenital cardiovascular abnormality characterized by the presence of subvalvar left ventricular outflow tract obstruction, coarctation of the aorta, and mitral stenosis. shone syndrome shone's syndrome (greater than 3 sites) shone complex MONDO:0020405 straddling and/or overriding mitral valve MONDO:0020406 CAVC type A CAVC-left heart obstruction syndrome complete atrioventricular canal type A complete atrioventricular canal-left heart obstruction syndrome MONDO:0020407 CAVC type B CAVC-ventricle hypoplasia syndrome complete atrioventricular canal type B complete atrioventricular canal-ventricle hypoplasia syndrome MONDO:0020408 CAVC type C CAVC-Fallot tetralogy syndrome complete atrioventricular canal type C complete atrioventricular canal-tetralogy of fallot syndrome MONDO:0020409 univentricular heart with single atrio-ventricular valve MONDO:0020410 aorto-right ventricular tunnel MONDO:0020411 aorto-left ventricular tunnel MONDO:0020412 Congenital patent ductus arteriosus aneurysm is a rare, congenital, arterial duct anomaly characterized by a saccular dilatation of the ductus arteriosus. It is often asymptomatic or presents shortly after birth with respiratory distress, stridor, cyanosis and/or weak cry. Complications, such as rupture, thromboembolism, infection, airway erosion and/or compression of the adjacent thoracic structures, can develop. Spontaneous resolution has been reported. https://github.com/monarch-initiative/mondo/issues/4069 congenital patent ductus arteriosus aneurysm MONDO:0020413 Encircling double aortic arch is a very rare congenital anomaly of the great arteries characterized by the presence of two aortic arches (right and left) which encircle and compress the trachea and esophagus, resulting in various respiratory and gastrointestinal symptoms (e.g. harsh breathing, stridor, dyspnea, cyanotic and choking episodes, chronic cough, recurrent respiratory tract infections, dysphagia and reflux). Esophageal atresia and tracheoesophageal fistula have also been reported. It usually occurs isolated, but, on occasion, may be associated with other congenital heart anomalies and chromosomal aberations. encircling double aortic arch MONDO:0020414 persistent fifth aortic arch MONDO:0020415 Kommerell diverticulum (KD) is a developmental anomaly of the aortic arch characterized by a diverticulum at the proximal descending aorta of left or right arch configuration that gives rise to an aberrant subclavian artery. KD is primarily asymptomatic but may become symptomatic secondary to dilatation of KD, atheroma and fibrotic changes in paratracheal or paraesophageal tissue, presenting with signs of tracheal compression (more common in children), esophageal compression (dysphagia lusoria; more common in patients with a right sided aortic arch), chest pain, or blood pressure difference in the upper limbs. KD may also predispose toward aortic dissection or rupture. Kommerell diverticulum MONDO:0020416 Neuhauser anomaly is a rare cardiovascular morphological anomaly due to maldevelopment of embryonal aorta resulting in right aortic arch and left ligamentum arteriosum characterized by tracheoesophageal compression symptoms (stridor, dyspnea, dysphagia, apnoeic episodes, recurrent respiratory infections). Neuhauser anomaly MONDO:0020417 An anatomic abnormality that occurs during embryonic development, in which the aortic arch is right-sided. right aortic arch (disease) right aortic arch right aortic arch (disease) right aortic arch MONDO:0020418 dysphagia lusoria MONDO:0020419 pulmonary artery hypoplasia (disease) pulmonary artery hypoplasia pulmonary artery hypoplasia (disease) pulmonary artery hypoplasia MONDO:0020420 Narrowing of the lumen of the right or left pulmonary artery branch. branch pulmonary artery stenosis pulmonary artery stenosis, branch (not PPS) peripheral pulmonary stenosis pulmonary branch stenosis MONDO:0020421 coronary artery intramyocardial course MONDO:0020422 Aortopulmonary coronary arterial course is a rare coronary artery congenital malformation characterized by anomalous origin of the coronary artery from the contralateral sinus of Valsalva with course between the aorta and the pulmonary artery. The anomaly is associated with increased risk of sudden cardiac death, especially during exercise. aortopulmonary coronary arterial course MONDO:0020423 coronary ostial stenosis or atresia stenosis or atresia of the coronary ostium stenosis or atrophy of the coronary ostium MONDO:0020424 Intramural coronary arterial course is a rare coronary artery congenital malformation disorder characterized by an atypical course of a coronary artery (usually proximal left anterior descending artery) in which, for a variable length, the artery runs intramyocardally. Depending on the artery and length of segment involved, patients may be asymptomatic or may present variable manifestations ranging from atypical angina to sudden death. intramural coronary arterial course MONDO:0020425 abnormal number of coronary ostia MONDO:0020426 Malposition of the coronary ostium is a rare coronary artery congenital malformation characterized by displacement of one of the coronary arteries, originating closer to the aortic root or to the commissural area. The anomaly is considered to be asymptomatic, however, it may impose surgical difficulties during aortic root surgery. malposition of the coronary ostium MONDO:0020427 Laubry-Pezzi syndrome is a rare, non-syndromic, congenital heart malformation characterized by the prolapse of an aortic valve cusp into a subjacent ventricular septal defect due to Venturi effect, resulting in aortic regurgitation. Patients typically present with symptoms of progressive aortic valve insufficiency, such as shortness of breath, heart palpitations, chest pain and exercise intolerance. VSD with aortic insufficiency ventricular septal defect with aortic insufficiency Laubry-Pezzi syndrome MONDO:0020428 https://github.com/monarch-initiative/mondo/issues/4069 Gerbode defect left ventricular-to-right atrial communication congenital Gerbode defect MONDO:0020429 cor triatriatum dexter (disease) cor triatriatum dexter cor triatriatum dexter (disease) cor triatriatum dextrum divided right atrium cor triatriatum dexter MONDO:0020430 Cor triatriatum sinister (CTS) results when the left atrium is divided into two compartments by a membrane. The membrane can vary in size and shape and may have one or more openings. Severe cases of cor triatriatum sinister usually present in infancy and are often associated with other heart defects. In less severe cases, the diagnosis may not be made until later in life. The specific symptoms depend on the degree to which the membrane obstructs the flow of blood and whether or not there are additional heart defects. Symptoms may range from mild shortness of breath during exercise to signs of heart failure and lung congestion. Some people with CTS may not have symptoms. Treatment varies according to the severity of the symptoms. For symptomatic patients, surgery is generally consideredthe definitive course of therapy. cor triatriatum sinistrum divided left atrium cor triatriatum sinister https://rarediseases.info.nih.gov/diseases/12484/cor-triatriatum-sinister MONDO:0020431 Juxtaposition of the atrial appendages is a rare atrial appendage anomaly when both appendages are located on the left or the right side of the great arteries. It is asymptomatic and is usually diagnosed incidentally, but is frequently associated with other congenital heart diseases. juxtaposition of the atrial auricles juxtaposition of the atrial appendages MONDO:0020432 Ectasia of the right atrial appendage is a rare cardiac malformation characterized by the enlargement of the right auricle without any other associated cardiac lesions. It can be asymptomatic and diagnosed fortuitously, prenatally or during routine clinical examinations or it can present with heart murmur, palpitation, atrial arrhythmia, fatigue, dyspnea or respiratory distress. dilatation of the right atrial appendage dilatation of the right atrial auricle ectasia of the right atrial auricle ectasia of the right atrial appendage MONDO:0020433 Ectasia of the left atrial appendage is a rare cardiac malformation characterized by the enlargement of the left auricle without any other associated cardiac lesions. It can be asymptomatic (discovered fortuitously during routine chest imaging as an unusual cardiac shadow) or present clinically with supraventricular tachyarrhythmia, paroxysmal tachycardia, embolic events, respiratory distress, chest pain, angina pectoris or heart failure. dilatation of the left appendage dilatation of the left atrial appendage dilatation of the left auricle ectasia of the left auricle ectasia of the left atrial appendage ectasia of the left appendage MONDO:0020434 ASD, ostium secundum type ASD ostium secundum type osASD ostium secundum ASD ostium secundum atrial septal defect atrial septal defect, ostium secundum type MONDO:0020435 ASD, coronary sinus type atrial septal defect coronary sinus unroofed coronary sinus ASD coronary sinus coronary sinus atrial septal defects atrial septal defect, coronary sinus type https://rarediseases.info.nih.gov/diseases/10697/atrial-septal-defect-coronary-sinus MONDO:0020436 ASD, sinus venosus type atrial septal defect sinus venosus sinus venosus ASD sinus venosus atrial septal defects atrial septal defect, sinus venosus type MONDO:0020437 Atrioventricular septal defect with communication at the atrial level only. https://github.com/monarch-initiative/mondo/issues/3879 ASD ostium primum type ASD, ostium primum type PAVC PAVSD atrial septal defect ostium primum atrioventricular defect with atrial shunting only incomplete atrioventricular canal defect with isolated atrial component incomplete atrioventricular septal defect with isolated atrial component ostium primum ASD partial atrioventricular canal defect with isolated atrial component partial atrioventricular septal defect partial atrioventricular septal defect: ostium primum type primum atrial septal defect atrial septal defect, ostium primum type MONDO:0020438 atrial septal aneurysm MONDO:0020439 A persistent opening in the atrial septum after birth. While a normal part of fetal circulation, the foramen ovale should close once the newborn begins breathing and the pressure in the left atrium exceeds that of the right atrium. While a PFO is generally asymptomatic, it can lead to the passage of clots from the venous circulation into the artierial circulation, resulting in paradoxical emboli, and possible strokes. patent foramen ovale (disease) atrial septal defect within oval fossa defect, patent or persistent, ostium secundum foramen ovale patent ostium secundum type atrial septal defect patent foramen ovale patent foramen ovale (disease) persistent ostium secundum patent foramen ovale MONDO:0020440 Persistent left superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by a persitent left superior vena cava which drains directly to the left atrium, without passing through the coronary sinus (that may be absent in some cases). Patients are usually asymptomatic and discovered incidentally, however hypoxia, cyanosis, murmurs, palpitations, cardiac structural anomalies (e.g. atrial septal defect, bicuspid aortic valve, cor triatrium) and risk of paradoxical embolization may be associated. left superior caval vein persisting to the left-sided atrium persistent left SVC connecting to the left-sided atrium persistent left superior caval vein connecting to the left-sided atrium persistent left superior vena cava connecting to the left-sided atrium MONDO:0020441 Right superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by the right SVC passing medially and dorsally to the aortic root and draining into the left atrium. Patients usually present a right-to-left systemic venous blood shunt which may manifest with arterial hypoxemia, cyanosis, exercise dyspnea, clubbing of the fingers, palpitations, murmurs and/or potentially fatal brain abscess. Association with other cardiac anomalies has been reported. right SVC connecting to left-sided atrium right superior caval vein connecting to left-sided atrium right superior vena cava connecting to left-sided atrium MONDO:0020442 left SVC persisting to left-sided atrium left superior caval vein persisting to left-sided atrium left superior vena cava persisting to left-sided atrium MONDO:0020443 Absence of innominate vein is a rare congenital anomaly of the great veins characterized by absence of the left brachiocephalic vein (or innominate vein), resulting in an anomalous venous vasculature. Patients are usually asymptomatic and the anomaly is typically discovered intraoperatively. An association with persistence of left superior vena cava, permanent levoatrial cardinal vein or anomaly of the inferior vena cava has been reported in some cases. absence of brachiocephalic vein absence of innominate vein MONDO:0020444 Subaortic course of innominate vein is a rare congential anomaly of the great veins characterized by an anomalous course of the left brachiocephalic vein, passing from left to right below the aortic arch and entering the superior vena cava below the orifice of the azygos vein. Patients are frequently asymptomatic and diagnosed incidentally on imaging studies. Other cardiac malformations may be associated. subaortic course of brachiocephalic vein subaortic course of innominate vein MONDO:0020445 Agenesis of the superior vena cava (SVC) is a rare congenital anomaly of the great veins characterized by unilateral or bilateral complete absence of the SVC. Unilateral agenesis is mainly asymptomatic (most of the time diagnosed incidentally) and patients usually have otherwise normal heart structure. Bilateral agenesis, however, is frequently associated with other congenital cardiac anomalies and/or conduction abnormalities (such as tetralogy of Fallot, atrial septal defect) and typically present symptoms of SVC syndrome. absence of the SVC absence of the superior caval vein absence of the superior vena cava agenesis of the SVC agenesis of the superior caval vein agenesis of the superior vena cava MONDO:0020446 coronary sinus stenosis MONDO:0020447 coronary sinus atresia MONDO:0020448 right IVC connecting to left-sided atrium right inferior caval vein connecting to left-sided atrium right inferior vena cava connecting to left-sided atrium MONDO:0020449 persistent eustachian valve MONDO:0020450 azygos continuation of the IVC azygos continuation of the inferior caval vein azygos continuation of the inferior vena cava MONDO:0020451 congenital stenosis of the IVC congenital stenosis of the inferior caval vein congenital stenosis of the inferior vena cava MONDO:0020452 IVC interruption Inferior caval vein interruption inferior vena cava interruption MONDO:0020453 Partial pulmonary venous return (PAPVR) is a form of congenital pulmonary venous return where one or a few of the pulmonary veins drain into the right atrium or one of its tributaries instead of the left atrium. Some patients can be asymptomatic while others can manifest with non-specific signs such as frequent respiratory infections, fatigue and exertional dyspnea. Partial anomalous pulmonary Venous connection Partial anomalous pulmonary Venous return congenital partial pulmonary venous return anomaly MONDO:0020454 Congenital complete agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation characterized by the complete absence of the entire pericardium, or by the absence of either the right (uncommon) or left pericardium. It is occasionally associated with chest pain (common), dyspnea, dizziness, bradycardia and syncope, while exertional manifestations are rare. The disease is usually incidentally diagnosed during surgery or at autopsy. https://github.com/monarch-initiative/mondo/issues/4069 congenital complete agenesis of pericardium MONDO:0020455 Congenital partial agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation mainly characterized by the partial absence of the left pericardium. It is occasionally associated with chest pain or dyspnea and is usually incidentally diagnosed during surgery or at autopsy. Herniation and strangulation of a portion of the heart through the pericardial foramen may occur, resulting in myocardial acute ischemia and possible sudden death. Right side pericardium involvement is rare. https://github.com/monarch-initiative/mondo/issues/4069 congenital partial agenesis of pericardium MONDO:0020456 Pleuro-pericardial cyst is a rare, mostly congenital, pericardium anomaly characterized by the presence of, usually asymptomatic, cysts which are typically located in the right costophrenic angle and are usually incidentally diagnosed. On occasion, it manifests with chest pain, dyspnea, tachycardia, persistent cough or cardiac arrhythmias. The condition is usually benign, but rare complications, such as cardiac tamponade, cardiogenic shock, mitral valve prolapse, hoarseness atrial fibrillation, right ventricular outflow, tract obstruction, spontaneous internal hemorrhage, pulmonary stenosis and sudden death, may occur. pleuro-pericardial cyst MONDO:0020457 6-phosphogluconate dehydrogenase deficiency MONDO:0020458 Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected. adenosine deaminase, elevated, hemolytic anemia due to hemolytic anemia due to erythrocyte adenosine deaminase overproduction MONDO:0020459 unstable hemoglobin disease MONDO:0020460 Acquired von Willebrand syndrome (AVWS) is a bleeding disorder marked by the same biological anomalies as those seen in hereditary von Willebrand disease (VWD) but which occurs in association with another underlying pathology, generally in elderly patients without any personal or family history of bleeding anomalies. AVWS acquired von Willebrand disease acquired von Willebrand disease (hereditary or acquired) acquired von willebrand disease Willebrand disease, acquired acquired von willebrand syndrome https://rarediseases.info.nih.gov/diseases/5573/acquired-von-willebrand-syndrome MONDO:0020461 epiblepharon MONDO:0020462 Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery. tarsal kink syndrome MONDO:0020463 A congenital ectropion that is not part of a larger syndrome. nonsyndromic congenital ectropion isolated congenital ectropion MONDO:0020464 Euryblepharon is a rare congenital eyelid anomaly of unknown etiology characterized by the bilateral horizontal enlargement of the palpebral fissure with vertically shortened eyelids, lateral canthus malpositioning and lateral ectropion. It may be isolated or associated with other ocular anomalies (e.g. strabismus or telecanthus) or systemic anomalies (e.g. blepharo-cheilo-odontic syndrome). In severe cases, it may result in lagophthalmos and exposure keratopathy, requiring surgical treatment. euryblepharon MONDO:0020465 Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips. congenital eyelid retraction MONDO:0020466 monosomy type X monosomy X MONDO:0020467 Mosaic Turner syndrome Mosaic monosomy type X XX/XO Editor note: add qualifier for mosaicism mosaic monosomy X MONDO:0020468 Paternal uniparental disomy of chromosome 13 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier. UPD(13)pat paternal uniparental disomy of chromosome type 13 paternal uniparental disomy of chromosome 13 MONDO:0020469 48,XYYY syndrome is a rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar stenosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males. 48,XYYY 48,XYYY syndrome MONDO:0020470 49,XYYYY is a rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults. 49,XYYYY syndrome MONDO:0020472 Turner syndrome due to structural X chromosome anomalies MONDO:0020473 dappled diaphyseal dysplasia MONDO:0020474 Cheirospondyloenchondromatosis is an extremely rare type of enchondromatosis of very early onset (from neonatal period to infancy) characterized by symmetrical multiple enchondromas with metacarpal and phalangeal involvement resulting in short hands and feet, platyspondyly, mild to moderate short stature and intellectual disability. generalized enchondromatosis with platyspondyly cheirospondyloenchondromatosis MONDO:0020475 Editor note: See PMID:1456297 dermotrichic syndrome MONDO:0020476 Mesial temporal lobe epilepsy with hippocampal sclerosis is a rare epilepsy syndrome defined by seizures originating in limbic areas of the mesial temporal lobe, particularly in the hippocampus, amygdala, and in the parahippocampal gyrus and its connections, and hippocampal sclerosis, usually unilateral or assymetric. It is frequently associated with an initial precipitating event, such as febrile seizures, hypoxia, intracranial infection or head trauma, most often occurring in the first five years of life, followed by a latent period without seizures. Typical seizures consist of a characteristic aura that is frequently a rising epigastric sensation associated with emotional disturbances, illusions, and autonomic symptoms (widened pupils, palpitations), progressive impairment of consciousness, oro-alimentary automatisms (lip smacking, chewing, licking, tooth grinding), behavioral arrest, head deviation, dystonic postures, hand and verbal automatisms. Seizures are followed by postictal dysfunction. Initially, seizures are easily controlled with antiepileptic drugs, later they frequently become refractory and associated with progressive behavioral changes and memory deficits. MTLE-HS mesial temporal lobe epilepsy with hippocampal sclerosis MONDO:0020477 progeria-associated arthropathy MONDO:0020478 Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations. LHON plus disease Leber plus disease MONDO:0020479 The condition of accelerated and excessive growth in children or adolescents who are exposed to excess human growth hormone before the closure of epiphyses. It is usually caused by somatotroph hyperplasia or a growth hormone-secreting pituitary adenoma. These patients are of abnormally tall stature, more than 3 standard deviations above normal mean height for age. hypophyseal gigantism infantile and juvenile forms of acromegaly gigantism pituitary gigantism MONDO:0020480 MOCOD combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase molybdenum cofactor deficiency Editor note: DO class is more general sulfite oxidase deficiency due to molybdenum cofactor deficiency MONDO:0020481 Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion. Fluctuating myotonia MF exercise-induced delayed-onset myotonia myotonia fluctuans MONDO:0020482 Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM). myotonia permanens MONDO:0020483 Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ). ACZ-responsive congenital myotonia ACZ-responsive myotonia Acetazolamide-responsive congenital myotonia myotonia-painful contractions syndrome painful congenital myotonia painful myotonia acetazolamide-responsive myotonia MONDO:0020485 A rare genetic non-dystrophic myopathy characterized by the triad of congenital myopathy, dysmorphic features and susceptibility to malignant hyperthermia. Patients present with a wide phenotypic range, including delayed motor development, muscle weakness and fatigability, ptosis and facies myopathica (with or without creatine kinase elevations), skeletal abnormalities (e.g. short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (e.g. hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral infection or statin use. Koussef-Nichols syndrome King Denborough syndrome Kousseff Nichols syndrome Noonan like contracture myopathy hyperpyrexia anesthetic-induced malignant hyperpyrexia in children King-Denborough syndrome https://rarediseases.info.nih.gov/diseases/8561/kousseff-nichols-syndrome MONDO:0020487 Pontiac fever (PF) is a mild form of legionellosis manifesting with flu-like symptoms such as nausea, myalgia, fever, cough and headache but without pneumonia. Pontiac fever MONDO:0020488 Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA). atypical PSP syndrome atypical progressive supranuclear palsy syndrome MONDO:0020489 18-hydroxylase deficiency 18-oxidase deficiency CMO I CMO II FHHA1 aldosterone synthase deficiency corticosterone methyloxidase deficiency type I familial hyperreninemic hypoaldosteronism type 1 MONDO:0020490 Mosaic trisomy 9 is a chromosomal abnormality that can affect may parts of the body. In people affected by this condition, some of the body's cells have three copies of chromosome 9 (trisomy), while other cells have the usual two copies of this chromosome. The signs and symptoms vary but may include mild to severe intellectual disability, developmental delay, growth problems (both before and after birth), congenital heart defects, and/or abnormalities of the craniofacial (skull and face) region. Most cases are not inherited; it often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm) or as the fertilized egg divides. Treatment is based on the signs and symptoms present in each person. Mosaic trisomy type 9 Mosaic trisomy chromosome 9 trisomy 9 mosaicism mosaic trisomy 9 https://rarediseases.info.nih.gov/diseases/43/mosaic-trisomy-9 MONDO:0020491 A developmental brain abnormality characterized by atypical migration of neurons during cortical development. HeCo band heterotopia double cortex syndrome heterotopic cortex subcortical laminar heterotopia Double cortex familial band heterotopia Editor note: check this hierarchy subcortical band heterotopia https://rarediseases.info.nih.gov/diseases/2250/familial-band-heterotopia MONDO:0020492 Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis. Management includes seizure control by antiepileptic medications and early hemispherectomy. unilateral megalencephaly macrencephaly hemimegalencephaly https://rarediseases.info.nih.gov/diseases/2637/hemimegalencephaly MONDO:0020493 Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease. Haddad syndrome congenital central alveolar hypoventilation-Hirschsprung disease syndrome ondine-Hirschsprung disease ondine-Hirschsprung syndrome Haddad syndrome MONDO:0020494 Oculootodental syndrome is a contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphtalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. OOD oculootodental syndrome MONDO:0020495 PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated. https://github.com/monarch-initiative/mondo/issues/4521 PEHO syndrome-like peho-like syndrome progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome PEHOL PEHO-like syndrome MONDO:0020496 An instance of porencephaly that is caused by an inherited modification of the individual's genome. hereditary porencephaly familial porencephalic white matter disease familial porencephaly https://rarediseases.info.nih.gov/diseases/2258/familial-porencephaly MONDO:0020497 Turcot syndrome with polyposis or Turcot syndrome type 2 is a form of familial adematous polyposis, characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma). It is also associated with pigmented ocular fundus lesions. Turcot syndrome with polyposis MONDO:0020499 Nipah virus disease, caused by the Nipah virus, is a recently discovered zoonotic disease characterized by fever, constitutional symptoms and encephalitis, sometimes accompanied by respiratory illness. https://github.com/monarch-initiative/mondo/issues/4714 Nipah encephalitis Nipah fever Nipah virus infectious disease Nipah virus disease MONDO:0020500 Marburg hemorrhagic fever (MHF), caused by Marburg virus, is a severe viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms, bleeding, shock, and multi-organ system failure. Green monkey disease MHF Marburg disease Marburg virus disease Marburg hemorrhagic fever https://rarediseases.info.nih.gov/diseases/9444/marburg-hemorrhagic-fever MONDO:0020501 Crimean-Congo hemorrhagic fever (CCHF) is a tick-borne zoonotic disease caused by CCHF virus and characterized by initial fever, headache, and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock, and multi-organ system failure. CCHF CHF Congo virus Congo fever Congo hemorrhagic fever Congo-Crimean hemorrhagic fever Crimean hemorrhagic fever Crimean hemorrhagic fever [CHF Congo virus] Crimean-Congo haemorrhagic fever Crimean-Congo hemorrhagic fever MONDO:0020502 Yellow fever (YF), caused by YF virus, is a zoonotic disease characterized by fever and constitutional symptoms, with the potential to progress to severe and fatal viral hemorrhagic fever with shock and multi-organ system failure. YF Yellow Jack Yellow fever Virus infection Yellow fever virus caused disease or disorder Yellow fever virus disease or disorder Yellow fever virus infectious disease Yellow fever, sylvan bronze John jungle yellow fever sylvatic yellow fever urban yellow fever yellow fever https://rarediseases.info.nih.gov/diseases/7914/yellow-fever MONDO:0020504 Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. genetic recurrent myoglobinuria MONDO:0020505 Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies. Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome progressive encephalopathy with severe infantile anorexia ravine syndrome MONDO:0020506 ovarioleukodystrophy MONDO:0020507 Cree leukoencephalopathy MONDO:0020508 congenital syringomyelia primary syringomyelia MONDO:0020509 Secondary syringomyelia is a rare medullar disease defined as a development of a fluid-filled cavity or syrinx within the spinal cord due to blockage of CSF circulation (e.g., due to basal archnoiditis, meningeal carcinomatosis, various mass lesions), spinal cord injury (e.g., due to trauma, radiation necrosis, hemorrhage, spinal abscess), spinal dysraphism or intramedullary tumours. It presents with neuropathic pain, numbness, muscular weakness, changes in tone or spasticity or autonomic changes (hyperhidrosis, heart rate or blood pressure instability). Selective loss of pain and temperature with relative preservation of dorsal column function (touch and pressure) are classic findings. secondary syringomyelia MONDO:0020510 Idiopathic syringomyelia is a rare, non-syndromic central nervous system malformation characterized by a longitudinally oriented fluid-filled cavity inside the spinal cord parenchyma or the central canal, without any readily identifiably cause. It is usually associated with pain, sensory and/or musculoskeletal disturbances, but it can also be an incidental and asymptomatic finding. idiopathic syringomyelia MONDO:0020511 The most frequent type of acute lymphoblastic leukemia. Approximately 75% of cases occur in children under six years of age. This is a good prognosis leukemia. In the pediatric age group the complete remission rate is approximately 95% and the disease free survival rate is 70%. Approximately 80% of children appear to be cured. In the adult age group the complete remission rate is 60-85%. (WHO, 2001) B acute lymphoblastic leukemia B cell acute lymphocytic leukemia B-ALL B-cell acute lymphoblastic leukemia B-cell acute lymphocytic leukemia B-cell lymphoblastic leukemia B-cell type acute leukemia acute B cell lymphocytic leukemia acute B-cell lymphocytic leukemia B cell precursor type acute leukemia B-cell precursor type acute leukemia B-precursor ALL precursor B-cell acute lymphoblastic leukemia/lymphoma precursor B-cell acute lymphocytic leukemia precursor B-cell acute lymphocytic leukemia/lymphoma precursor B-lymphoblastic leukemia precursor B-lymphoblastic leukemia (B-precursor ALL) precursor B-cell acute lymphoblastic leukemia MONDO:0020512 T-ALL precursor T-cell acute lymphoblastic leukemia/lymphoma precursor T-cell acute lymphocytic leukemia precursor T-cell acute lymphocytic leukemia/lymphoma precursor T-cell acute lymphoblastic leukemia MONDO:0020513 A rare variant of seminoma characterized by the presence of three cell types: round cells with eosinophilic cytoplasm, small cells with dark nucleus and a small amount of cytoplasm, and mono-or multinucleated giant cells. The neoplastic cells are not cohesive. There is an edematous stroma present; lymphocytic infiltrates are rarely seen. Most patients are older males. spermatocytic seminoma testicular spermatocytic seminoma spermatocytoma spermatocytic seminoma MONDO:0020516 Thymic neuroendocrine carcinoma is a type of thymic epithelial neoplasm displaying evidence of neuroendocrine differentiation. neuroendocrine carcinoma of thymus thymic neuroendocrine carcinoma thymus neuroendocrine carcinoma thymic neuroendocrine carcinoma MONDO:0020517 A clinical variant of Langerhans cell histiocytosis characterized by unifocal involvement of a bone (most often), skin, or lung. Patients are usually older children or adults usually presenting with a lytic bone lesion. The etiology is unknown. Morphologically, eosinophilic granuloma is characterized by the presence of Langerhans cells in a characteristic milieu which includes histiocytes, eosinophils, neutrophils, and small, mature lymphocytes. Monostotic Langerhans cell histiocytosis chronic and localized Langerhans cell histiocytosis chronic unifocal Langerhans cell histiocytosis eosinophilic granuloma eosinophilic xanthomatous granuloma unifocal Langerhans cell histiocytosis eosinophilic granuloma MONDO:0020518 Hashimoto-Pritzker histiocytosis (HPH) is a variant of Langerhans cell histiocytosis characterized by multiple disseminated skin lesions (firm, red-brown, painless papulo-nodules). congenital Langerhans cell histiocytosis Hashimoto-Pritzker disease Hashimoto-Pritzker histiocytosis Hashimoto-Pritzker syndrome https://rarediseases.info.nih.gov/diseases/2604/hashimoto-pritzker-syndrome MONDO:0020519 A multifocal, unisystem form of Langerhans-cell histiocytosis. There is involvement of multiple sites in one organ system, most frequently the bone. Patients are usually young children presenting with multiple destructive bone lesions. chronic multifocal Langerhans cell histiocytosis classic multifocal Langerhans cell histiocytosis hand-SChüller-Christian disease hand-Schuller-Christian disease multifocal Unisystem Langerhans cell histiocytosis multifocal eosinophilic granuloma hand-Schuller-Christian disease MONDO:0020520 Adult pulmonary Langerhans Cell Histiocytosis (PLCH) is a rare histiocytic lung disease characterized by the accumulation of Langerhans and other inflammatory cells in the small airways, resulting in the formation of nodular inflammatory lesions. PLCH pulmonary Langerhans cell histiocytosis pulmonary eosinophilic granuloma pulmonary histiocytosis X adult pulmonary Langerhans cell histiocytosis MONDO:0020521 EDS VIIA Ehlers-Danlos syndrome type 7A MONDO:0020522 EDS VIIB EDSARTH2 Ehlers-Danlos syndrome, arthrochalasia type, 2 Ehlers-Danlos syndrome, type VIIB, autosomal dominant Ehlers-Danlos syndrome type 7B MONDO:0020523 An instance of parathyroid gland adenoma that is caused by an inherited modification of the individual's genome. hereditary parathyroid gland adenoma familial parathyroid adenoma MONDO:0020524 familial parathyroids hyperplasia hereditary parathyroids hyperplasia primary parathyroid hyperplasia MONDO:0020525 Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients. transient neonatal diabetes mellitus (disease) TNDM transient neonatal diabetes mellitus transient neonatal diabetes mellitus (disease) chromosome 6-associated transient diabetes mellitus diabetes mellitus, 6q24-related transient neonatal diabetes mellitus, transient neonatal transient neonatal diabetes mellitus MONDO:0020526 DS-AMKL acute megakaryoblastic leukemia in down syndrome MONDO:0020527 Cushing syndrome due to ectopic (adrenocorticotropic hormone) ACTH secretion (EAS) is a form of ACTH-dependent Cushing syndrome caused by excess secretion of ACTH by a benign or, more often, malignant non-pituitary tumor. Cushing syndrome due to ectopic ACTH secretion adrenocorticotropic hormone secretion syndrome ectopic ACTH secreting tumor ectopic Cushing syndrome occult ectopic ACTH secretion paraneoplastic Cushing syndrome ectopic Cushing syndrome MONDO:0020528 Adrenocorticotropic hormone dependent Cushing syndrome (ACTH-dependent CS) is a form of endogenous CS caused by abnormal production of ACTH due, in 80% of cases, to ACTH oversecretion by a pituitary adenoma (Cushing disease, CD) and in 20% of cases to ectopic ACTH secretion (CS due to EAS) by an extrapituitary tumor (in 50% of cases originating in the lungs or less commonly in the thymus, pancreas, adrenal gland or thyroid) or very rarely due to a tumor secreting both ACTH and corticotrophin-releasing hormone (CRH). ACTH-dependent CS adrenocorticotropic hormone-dependent Cushing syndrome corticotropin-dependent Cushing syndrome overproduction of ACTH pituitary-dependent Cushing disease pituitary-dependent Cushing's disease ACTH hypersecretion, pituitary adrenocorticotropic hormone, inappropriate secretion pituitary Cushing disease pituitary Cushing diseases pituitary Cushing syndrome ACTH-dependent Cushing syndrome MONDO:0020529 Adrenocorticotropic hormone (ACTH) independent Cushing syndrome is a form of endogenous Cushing syndrome (CS) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma: 55-60%) or malignant (adrenocortical carcinoma: 35-40 %) adrenocortical tumor or by bilateral adrenal secretion by macronodular adrenal hyperplasia (AIMAH), as an isolated disease or as part of McCune-Albright syndrome (MAS), or by primary pigmented nodular adrenocortical disease (PPNAD), as an isolated disease or as part of Carney complex (CNC). adrenal Cushing syndrome adrenocorticotropic hormone-independent Cushing syndrome corticotropin-independent Cushing syndrome ACTH-independent Cushing syndrome MONDO:0020530 Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM). IFNGR1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency MSMD due to complete IFNgammaR1 deficiency MSMD due to complete interferon gamma receptor 1 deficiency Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IFNGR1 IFNGR1 deficiency interferon gamma, receptor 1, deficiency Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency MONDO:0020531 A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy. LCAD acyl-CoA dehydrogenase, long-chain deficiency inborn error of long-chain-acyl-CoA dehydrogenase activity inborn long-chain-acyl-CoA dehydrogenase activity disorder long chain acyl-CoA dehydrogenase deficiency long-chain acyl-CoA dehydrogenase deficiency long-chain acyl-Coenzyme A dehydrogenase deficiency rare inborn error of long-chain-acyl-CoA dehydrogenase activity ACADL deficiency LCAD deficiency long chain acyl-CoA dehydrogenase deficiency MONDO:0020532 Spirillary rat-bite fever (RBF), also known as Sodoku (Japanese for so: rat and doku: poison), is caused by the gram-negative bacillus Spirillum minus and is transmitted to humans through the bites and scratches of rats. The disease is mostly present in Asia. Spirillary fever sodoku sodoku disease spirillosis spirillary rat-bite fever MONDO:0020533 Streptobacillary rat-bite fever (RBF) is a systemic zoonosis caused by the aerobic gram-negative bacterium Streptobacillus moniliformis and is transmitted to humans through the bites and scratches of infected rats. Haverhill fever Streptobacillary fever streptobacillary rat-bite fever Streptobacillosis streptobacillary rat-bite fever MONDO:0020535 House allergic alveolitis is a hypersensitivity pneumonitis resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her domestic environment. House allergic alveolitis encompasses summer hypersensitivity pneumonitis, humidifier-induced lung diseases, hot tub lung and legionellosis. house allergic alveolitis MONDO:0020537 Occupational allergic alveolitis designates a hypersensitivity pneumonitis resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her occupational environment. Symptoms vary depending on the antigen and the form (acute, subacute, chronic) of the disease. They may be cough, dyspnea, chills, fever, weight loss, loss of appetite and general malaise occupational allergic alveolitis MONDO:0020538 Malignant dysgerminomatous germ cell tumor of ovary is the most common form of malignant germ cell tumor of ovary, arising from germ cells in the ovary, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding, and acute abdomen and is characterized by bilaterality (around 10% of cases), association with dysgenetic gonads (5 to 10% of cases), elevated serum lactate dehydrogenase (LDH) and human chorionic gonadotrophin (hCG) (in the presence of syncitiotrophoblasts). Malignant dysgerminomatous germ cell tumor of ovary responds well to chemotherapy, potentially sparing patients from infertility and early mortality. dysgerminomatous germ cell cancer of ovary dysgerminomatous germ cell cancer of the ovary malignant ovarian dysgerminoma malignant dysgerminomatous germ cell tumor of the ovary malignant dysgerminomatous germ cell tumor of ovary MONDO:0020539 extragonadal non-dysgerminomatous germ cell tumor MONDO:0020540 A rare neoplasm arising from the ovary. Although it may occur at any age, it is more often seen in young females. Morphologically, it is characterized by a mixture of two cellular populations: well differentiated Sertoli cells and granulosa cells, with the latter constituting at least ten percent of the neoplasm. The vast majority of cases are stage I lesions at presentation and produce either estrogenic or androgenic manifestations. Although it may present as a massive ovarian tumor, it usually follows a benign clinical course. Very rare case reports of testicular lesions morphologically resembling gynandroblastomas are in fact variants of juvenile granulose cell tumor, or Sertoli cell tumor, or a combination of both. Gynandroblastoma of ovary Gynandroblastoma of the ovary Gynandroblastoma ovarian gynandroblastoma https://rarediseases.info.nih.gov/diseases/9665/gynandroblastoma MONDO:0020541 An aggressive granulosa cell tumor that arises from the ovary and metastasizes to other anatomic sites. adult ovarian granulosa cell tumor cancer of granulosa cell granulosa cell cancer granulosa cell malignant tumor malignant granulosa cell neoplasm malignant granulosa cell neoplasm of ovary malignant granulosa cell neoplasm of the ovary malignant granulosa cell tumor of ovary malignant granulosa cell tumor of the ovary malignant ovarian granulosa cell neoplasm malignant ovarian granulosa cell tumor ovarian granulosa cell tumor of adults GCT of the ovary GTCT Maligant granulosa cell tumor of the ovary adult granulosa cell tumor of the ovary granulosa theca cell tumor granulosa theca cell tumor of the ovary maligant granulosa cell tumor of ovary https://rarediseases.info.nih.gov/diseases/8642/granulosa-cell-tumor-of-the-ovary MONDO:0020542 Malignant Sertoli-Leydig cell tumor of ovary is a rare malignant sex cord stromal tumor of ovary occuring typically in young women and characterized by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea), when functional. Androblastoma Arrhenoblastoma malignant ovarian Sertoli-Leydig cell tumor ovarian Sertoli-Leydig cell cancer ovarian Sertoli-Leydig cell tumor, malignant ovarian malignant Sertoli-Leydig cell tumor ovarian sertoli-Leydig cell tumor, malignant virilizing ovarian tumor malignant Sertoli-Leydig cell tumor of the ovary malignant ovarian sertoli-Leydig cell tumor malignant Sertoli-Leydig cell tumor of ovary MONDO:0020543 Malignant steroid cell tumor of the ovary, not otherwise specified is a rare malignant sex cord stromal tumor of ovary of unknown histological lineage, occurring in adult women, characterized, in most cases, by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea) and, occasionally, Cushing syndrome. theca (steroid-producing) cell cancer, not further specified Editor note: TODO theca steroid-producing cell malignant tumor of ovary, not further specified MONDO:0020544 Streptococcal toxic-shock syndrome (streptococcal TSS) is an acute disease mediated by the production of superantigenic toxins characterized by the sudden onset of fever and other febrile symptoms, pain, multisystem organ involvement and potentially leading to coma, shock and death due to a Streptococcus pyogenes infection. Streptococcus caused toxic shock syndrome Streptococcus toxic shock syndrome streptococcal TSS streptococcal toxic-shock syndrome MONDO:0020545 Staphylococcal toxic shock syndrome (staphylococcal TSS) is an acute disease mediated by the production of superantigenic toxins, characterized by high fever, skin rash followed by skin peeling, hypotension, vomiting, diarrhea and potentially leading to multisystem organ failure and caused by a Staphylococcus aureus bacterial infection. Staphylococcus caused toxic shock syndrome Staphylococcus toxic shock syndrome staphylococcal TSS staphylococcal toxic-shock syndrome MONDO:0020546 A syndrome of immunologically mediated tissue damage that may occur following an allogeneic transplant, usually affecting the skin, liver, and GI tract. The onset is usually within one hundred days of transplantation or immunologic manipulation. https://github.com/monarch-initiative/mondo/issues/5146 https://github.com/monarch-initiative/mondo/issues/5166 GVHD, acute acute graft vs. host disease fulminant graft versus host disease graft versus host disease, acute acute GVHD acute graft versus host disease https://rarediseases.info.nih.gov/diseases/6544/acute-graft-versus-host-disease MONDO:0020547 Chronic graft versus host disease (GVHD) is a complication that can occur after a stem cell or bone marrow transplant in which the newly transplanted donor cells attack the transplant recipient's body. Symptoms may include skin rash, mouth sores, dry eyes, liver inflammation, development of scar tissue in the skin and joints, and damage to the lungs. The exact cause of chronic GVHD is unknown.It likely results from a complex immune-mediated interaction between the donor and recipient cells.Chronic GVHD is treated with prednisone or other similar anti-inflammatory or immunosuppressive medications. GVHD, chronic graft versus host disease, chronic chronic GVHD chronic graft versus host disease https://rarediseases.info.nih.gov/diseases/10964/chronic-graft-versus-host-disease MONDO:0020548 Ocular pemphigoid is a rare inflammatory eye disease characterized by sub-epithelial blistering manifesting with bilateral, asymmetrical, chronic or recurrent conjunctivitis and aberrant tissue regeneration leading to progressive conjunctival fibrosis, secondary corneal vascularization and, in some cases, blindness. Patients typically present with conjunctival redness, increased lacrimation, burning and/or foreign body sensation, edema, limbitis and/or varying degrees of ocular pain. Ankyloblepharon may be observed in end stages of the disease. ocular pemphigoid MONDO:0020549 A complete hydatidiform mole or very rarely a partial mole that invades the myometrium. chorioadenoma chorioadenoma Destruens chorioadenoma destruens invasive Mole invasive gestational trophoblastic neoplasm invasive hydatidiform Mole invasive hydatidiform mole IHM invasive hydatidiform mole MONDO:0020550 Gestational choriocarcinoma is a gestational trophoblastic tumor (GTT) occurring secondary to pregnancy (ectopic or normal), miscarriage, voluntary termination of pregnancy (VTP) or a hydatidiform mole. gestational choriocarcinoma gestational choriocarcinoma (morphologic abnormality) gestational chorionepithelioma molar pregnancy with choriocarcinoma gestational choriocarcinoma MONDO:0020552 Placental site trophoblastic tumor is a rare gestational trophoblastic tumor (GTT) which develops from the placental implantation site and always occurs following pregnancy, voluntary termination of pregnancy (VTP) or miscarriage. PSST placental site gestational trophoblastic tumor placental site trophoblastic tumor placental site trophoblastic tumor (morphologic abnormality) placental-site GTT placental-site gestational trophoblastic neoplasm placental-site gestational trophoblastic tumor placental site trophoblastic tumor MONDO:0020553 Secondary pulmonary hemosiderosis is a respiratory disease due to the deposition of hemosiderin-laden macrophages in lungs as a result of repeated alveolar hemorrhage secondary to another disease, especially dysimmunitary disorders (i.e. Heiner syndrome, autoimmune diseases), thrombotic disorders and cardiovascular disorders such as mitral stenosis. It manifests as a triad of hemoptysis, anemia and diffuse parenchymal infiltrates on chest radiography secondary pulmonary hemosiderosis MONDO:0020554 Heiner syndrome, also called cow's milk hypersensitivity, is a food induced pulmonary hypersensiting syndrome that affects primarily infants and that is characterized by pulmonary hemosiderosis, digestive bleeding, anemia and poor growing, improving with elimination of cow's milk from the diet. cow's milk hypersensitivity Heiner syndrome MONDO:0020555 A pleuropulmonary blastoma composed of malignant small cells. Sarcomatous features are absent. type I pleuropulmonary blastoma pleuropulmonary blastoma type 1 MONDO:0020556 A pleuropulmonary blastoma composed of malignant small cells and characterized by the presence of a sarcomatous component. It usually follows an aggressive clinical course. type II pleuropulmonary blastoma pleuropulmonary blastoma type 2 MONDO:0020557 A pleuropulmonary blastoma characterized by a solid pattern and sarcomatous features. It usually follows an aggressive clinical course. type III pleuropulmonary blastoma pleuropulmonary blastoma type 3 MONDO:0020558 Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy. CMT2K Charcot-Marie-Tooth disease type 2K autosomal dominant Charcot-Marie-Tooth disease type 2K MONDO:0020559 O'Sullivan McLeod syndrome is a benign lower motor neuron disorder and a rare variant of monomelic amyotrophy (MA), characterized by an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression of muscular atrophy over a 20 year period. O'Sullivan-McLeod syndrome MONDO:0020560 Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT) found almost exclusively in children. AT/RT ATRT ATT/RHT CNS rhabdoid neoplasm CNS rhabdoid tumor atypical teratoid/rhabdoid tumor atypical teratoid/rhabdoid tumor (WHO grade IV) atypical teratoid/rhabdoid tumor (morphologic abnormality) central nervous system rhabdoid neoplasm central nervous system rhabdoid tumor malignant brain rhabdoid neoplasm malignant brain rhabdoid tumor malignant rhabdoid neoplasm of brain malignant rhabdoid neoplasm of the brain malignant rhabdoid tumor of brain malignant rhabdoid tumor of the brain primary malignant brain rhabdoid neoplasm primary malignant brain rhabdoid tumor primary malignant rhabdoid neoplasm of brain primary malignant rhabdoid neoplasm of the brain primary malignant rhabdoid tumor of brain primary malignant rhabdoid tumor of the brain rhabdoid neoplasm of CNS rhabdoid neoplasm of central nervous system rhabdoid neoplasm of the CNS rhabdoid neoplasm of the central nervous system rhabdoid tumor of CNS rhabdoid tumor of central nervous system rhabdoid tumor of the CNS rhabdoid tumor of the central nervous system rhabdoid tumor predisposition syndrome atypical teratoid rhabdoid tumor MONDO:0020561 Myxoid/round cell liposarcoma (MRCLS) is a type of liposarcoma (LS) mostly located in the limbs, with a variable behavior depending on the histological subtype. Both myxoid and round cell are distinct histological subtypes of LS. MRCLS myxoid/round-cell liposarcoma myxoid/round cell liposarcoma MONDO:0020562 Pleomorphic liposarcoma (PLS), the rarest subtype of liposarcoma (LS), is an aggressive, fast growing tumor located usually in the deep soft tissues of the lower and upper extremities. It is characterized by a variable number of pleomorphic lipoblasts and, in contrast to dedifferentiated liposarcoma, it lacks any association with well-differentiated liposarcoma. PLS pleomorphic liposarcoma pleomorphic liposarcoma (morphologic abnormality) PLLS pleomorphic liposarcoma MONDO:0020563 Dedifferentiated liposarcoma (DDLS) is a high-grade subtype of liposarcoma (LS) that progresses from well-differentiated liposarcoma (WDLS), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS. DDLS Dedifferentiated liposarcoma Dedifferentiated liposarcoma MONDO:0020567 Apnea of prematurity is a developmental disorder affecting premature infants, likely secondary to an immaturity of respiratory control resulting in idiopathic pauses in breathing often associated with reduced heart rate and arterial blood oxygen levels. It may be exacerbated by concurrent neonatal diseases. apnea of prematurity MONDO:0020568 cutaneous myiasis MONDO:0020569 Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome, a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy. developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form intermediate DEND syndrome MONDO:0020571 relapsing epidemic typhus MONDO:0020572 Complex regional pain syndrome type 2 (CRPS2), or causalgia is a form of complex regional pain syndrome that develops after damage to a peripheral nerve and is characterized by spontaneous pain, allodynia and hyperalgesia, not necessarily limited to the territory of the injured nerve, as well as at some point, edema, changes in skin blood flow or sudomotor dysfunction in the pain area. CRPS II Complex regional pain syndrome II Complex regional pain syndrome, type II causalgia complex regional pain syndrome type 2 MONDO:0020573 A latent susceptibility to disease at the genetic level, which may be activated under certain conditions. cjm 2017-09-30T12:01:25Z hereditary disease susceptibility hereditary predisposition to disease genetic predisposition genetic predispositions genetic susceptibilities genetic susceptibility predisposition, genetic predispositions, genetic susceptibilities, genetic susceptibility, genetic inherited disease susceptibility MONDO:0020574 Germ cell tumors of the central nervous system other than germinoma. This category includes teratoma, choriocarcinoma, embryonal carcinoma, and yolk sac tumor. central nervous system nongerminomatous germ cell tumor nongerminomatous GCT - CNS nongerminomatous germ cell tumor of the CNS central nervous system nongerminomatous germ cell tumor MONDO:0020575 A ventricular tachycardia that is irregular in rate and rhythm. polymorphic ventricular tachycardia ventricular tachycardia, polymorphic polymorphic ventricular tachycardia MONDO:0020576 Inflammation of the blood vessel wall characterized by palpable purpura. cutaneous vasculitis cutaneous vasculitis MONDO:0020577 A germ cell tumor that arises from the testis or ovary and occurs during childhood. childhood gonadal germ cell tumor gonadal germ cell tumor of childhood pediatric gonadal germ cell tumor childhood gonadal germ cell tumor MONDO:0020579 Inflammation of the mucous membranes. https://github.com/monarch-initiative/mondo/issues/5537 inflammation of mucosa mucosa inflammation mucositis mucositis MONDO:0020580 A term that refers to germinoma, seminoma, or dysgerminoma. germinomatous germ cell tumor germinomatous germ cell tumor MONDO:0020581 A tumor with perivascular epithelioid cell differentiation characterized by the absence of pleomorphism and scarcity or absence of mitotic figures. benign PEComa benign PEComa, nos benign PEComa, not otherwise specified benign neoplasm with perivascular epithelioid cell differentiation neoplasm with perivascular epithelioid cell differentiation, benign typical PEComa benign PEComa MONDO:0020582 A non-metastasizing neoplasm that arises from the uterine ligament. benign uterine ligament neoplasm benign uterine ligament neoplasm MONDO:0020583 Chromosomal disorder in which chromosome 17 is affected. chromosome 17 abnormality chromosome 17 disorder MONDO:0020584 Any form of anemia that results from the absence of, or the defective action of, any enzyme. anemia due to enzyme disorder anemia due to enzyme disorder MONDO:0020585 Any form of anemia that results from the absence of, or the defective action of, any enzyme involved in erythropoiesis. anemia due to erythrocyte enzyme disorder anemia due to erythrocyte enzyme disorder MONDO:0020586 A coagulation disorder characterized by the partial or complete absence of factor V activity in the blood. https://github.com/monarch-initiative/mondo/issues/5537 factor V deficiency factor V deficiency MONDO:0020587 A coagulation disorder characterized by the partial or complete absence of factor XI activity in the blood. https://github.com/monarch-initiative/mondo/issues/5537 factor XI deficiency factor XI deficiency MONDO:0020588 A lung tumor that arises from perivascular epithelioid cells (PECs). lung PEComa lung pecomatous tumor lung PEComa MONDO:0020589 A germ cell tumor that arises within the myocardium or cardiac chambers. The reported cases have been teratomas and yolk sac tumors. cardiac germ cell tumor heart germ cell tumor cardiac germ cell tumor MONDO:0020590 Infection due to organisms from the genus Mycobacteria. mycobacterial infection mycobacteriosis mycobacterium infection mycobacterial infectious disease MONDO:0020592 A non-neoplastic or neoplastic disorder that affects the pharynx. Representative examples include pharyngitis and carcinoma. chordate pharynx disease chordate pharynx disease or disorder disease of chordate pharynx disease or disorder of chordate pharynx disorder of chordate pharynx pharyngeal disease pharyngeal disorder disorder of pharynx MONDO:0020593 A benign hair follicle neoplasm with trichoblastic differentiation. It usually presents as a solitary papular lesion It most often presents on the head and neck area, but it may develop in any anatomic site containing hair follicles. Because of its benign nature, treatment usually is not required, provided that the diagnosis has been established with certainty. Brooke's tumor trichoblastoma trichoepithelioma trichoepithelioma, benign trichogenic adnexal tumor trichogenic trichoblastoma trichoblastoma MONDO:0020594 A non-neoplastic or neoplastic disorder affecting the abducens nerve (sixth cranial nerve). VIth nerve disorder abducens nerve disease abducens nerve disease or disorder abducens nerve disorder disease of abducens nerve disease or disorder of abducens nerve disorder of abducens nerve abducens nerve disorder MONDO:0020596 mucin-producing carcinoma mucin-producing carcinoma MONDO:0020597 An angiokeratoma that is located on the scrotum. angiokeratoma of fordyce angiokeratoma of scrotum angiokeratoma of the scrotum fordyce angiokeratoma fordyce-type angiokeratoma of scrotum fordyce-type angiokeratoma of the scrotum scrotal angiokeratoma scrotal fordyce-type angiokeratoma scrotum angiokeratoma angiokeratoma of scrotum MONDO:0020598 A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea. malabsorption malabsorption syndrome malabsorption syndrome MONDO:0020599 Deficiency of a coagulation factor that is not caused by genetic alterations. Causes include vitamin K deficiency, amyloidosis, and severe liver disease. acquired coagulation factor deficiency acquired coagulation protein disease acquired coagulation factor deficiency MONDO:0020600 An acute and painful inflammatory process that affects the pharynx. It is usually caused by viruses and less often bacteria. Signs and symptoms include discomfort on swallowing, low-grade fever, headache, and earache. acute pharyngitis pharyngitis, acute acute pharyngitis MONDO:0020601 Viral encephalitis that is transmitted by mosquitos. mosquito-borne viral encephalitis mosquito-borne viral encephalitis MONDO:0020602 Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a mutation in the GPC3 gene. https://github.com/monarch-initiative/mondo/issues/4521 DGSX Golabi-Rosen syndrome GPC3 Simpson-Golabi-Behmel syndrome SGBS1 Simpson dysmorphia syndrome Simpson-Golabi-Behmel syndrome caused by mutation in GPC3 Simpson-Golabi-Behmel syndrome type 1 Simpson-Golabi-Behmel syndrome, type 1, X-linked recessive bulldog syndrome Golabi-Rosen syndrome Sgbs Simpson-Golabi-Behmel syndrome, type 1 dysplasia gigantism syndrome, X-linked Simpson-Golabi-Behmel syndrome type 1 MONDO:0020603 A rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature. https://github.com/monarch-initiative/mondo/issues/2114 https://github.com/monarch-initiative/mondo/issues/3906 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 CDPX2 CDPXD Conrad Hunermann Happle syndrome Conradi Hunermann syndrome Conradi-Hunermann syndrome Conradi-Hunermann-Happle syndrome Conradi-Hünermann-Happle syndrome EBP chondrodysplasia punctata Happle syndrome X-linked chondrodysplasia punctata type 2 chondrodysplasia punctata 2 X-linked dominant chondrodysplasia punctata 2, X-linked dominant chondrodysplasia punctata caused by mutation in EBP chondrodysplasia punctata, X-linked dominant, X-linked dominant X-linked chondrodysplasia punctata 2 https://rarediseases.info.nih.gov/diseases/6189/chondrodysplasia-punctata-2-x-linked-dominant MONDO:0020604 X-linked dominant form of disease. X-linked dominant disease MONDO:0020605 X-linked recessive form of disease. X-linked recessive disease MONDO:0020606 sex-linked hereditary disorder sex-linked disease MONDO:0020607 Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1B gene. Liddle syndrome 1 Liddle syndrome caused by mutation in SCNN1B SCNN1B Liddle syndrome LIDLS1 Liddle syndrome Pseudoaldosteronism Liddle syndrome 1 MONDO:0020627 See https://github.com/monarch-initiative/mondo/issues/271 epileptic encephalopathy, infantile or early childhood MONDO:0020628 microcephaly, growth restriction, and increased sister chromatid exchange 2 MGRISCE2 microcephaly, growth restriction, and increased sister chromatid exchange 2 MONDO:0020629 MGRISCE microcephaly, growth restriction and increased sister chromatid exchange MONDO:0020630 https://github.com/monarch-initiative/mondo/issues/4521 developmental and epileptic encephalopathy 91 epileptic encephalopathy, infantile or early childhood, 1 IECEE1 epileptic encephalopathy, infantile or early childhood, 1 MONDO:0020631 https://github.com/monarch-initiative/mondo/issues/4521 IECEE2 developmental and epileptic encephalopathy 92 epileptic encephalopathy, infantile or early childhood, 2 epileptic encephalopathy, infantile or early childhood, 2 MONDO:0020632 https://github.com/monarch-initiative/mondo/issues/4521 IECEE3 developmental and epileptic encephalopathy 93 epileptic encephalopathy, infantile or early childhood, 3 epileptic encephalopathy, infantile or early childhood, 3 MONDO:0020633 anaplastic malignant neoplasm anaplastic cancer MONDO:0020634 A malignant meningioma with aggressive clinical course. It recurs in approximately 50-78% of the cases. This category includes the anaplastic (malignant) meningioma, papillary meningioma, and rhabdoid meningioma. WHO grade III meningioma grade 3 meningioma grade III meningioma meningioma, malignant grade III meningioma MONDO:0020635 A WHO grade III meningioma characterized by the presence of malignant morphologic features, including malignant cytology and a very high mitotic index (20 or more mitoses per ten high power fields). anaplastic (malignant) meningioma anaplastic meningioma malignant meningioma meningioma, anaplastic, malignant meningioma, malignant anaplastic meningioma MONDO:0020636 Mendelian susceptibility to mycobacterial diseases due to a complete deficiency MONDO:0020637 Mendelian susceptibility to mycobacterial diseases due to a partial deficiency MONDO:0020638 A type of melanoma that typically occurs in light-skinned individuals ranging in age from young adults to the elderly. Risk factors include extensive sun exposure during childhood, a family history of melanoma, and the presence of dysplastic nevi. SSM cutaneous superficial spreading melanoma pagetoid melanoma superficial spreading cutaneous (skin) melanoma superficial spreading malignant melanoma of skin superficial spreading malignant melanoma of the skin superficial spreading malignant skin melanoma superficial spreading melanoma superficial spreading melanoma of skin superficial spreading melanoma of the skin superficial spreading melanoma MONDO:0020639 A chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number. monosomy MONDO:0020640 Inflammation of the brain secondary to an immune response triggered by the body itself. autoimmune encephalitis autoimmune encephalitis MONDO:0020641 A benign or malignant, primary or metastatic neoplasm involving the respiratory tract. neoplasm of respiratory tract neoplasm of the respiratory tract neoplasm, respiratory tract neoplasms, respiratory tract respiratory system neoplasm respiratory tract neoplasm respiratory tract tumor tract neoplasm, respiratory tract neoplasms, respiratory tumor of respiratory tract tumor of the respiratory tract respiratory tract neoplasm MONDO:0020642 A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis. https://github.com/monarch-initiative/mondo/issues/3532 PKD - polycystic kidney disease fibrocystic renal disease polycystic kidney disease polycystic kidney disease MONDO:0020643 https://github.com/monarch-initiative/mondo/issues/4521 AUTS1 autism susceptibility 1 autism susceptibility 1, isolated cases autism susceptibility 1 MONDO:0020644 A rare non-Hodgkin lymphoma that arises in and is confined to the lung at the time of diagnosis. Representative examples include bronchial mucosa-associated lymphoid tissue lymphoma and diffuse large B-cell lymphoma. lung non-Hodgkin lymphoma lung non-Hodgkin's lymphoma non-Hodgkin lymphoma of lung primary lung non-Hodgkin's lymphoma lung non-Hodgkin lymphoma MONDO:0020645 Autosomal dominant form of osteopetrosis (disease). OPTA autosomal dominant osteopetrosis (disease) osteopetrosis (disease), autosomal dominant autosomal dominant osteopetrosis MONDO:0020646 A non-Hodgkin lymphoma arising from the conjunctiva, lacrimal gland, lacrimal drainage apparatus, eyelids, or other orbital tissues around the eye. The vast majority of cases are extranodal marginal zone lymphomas of mucosa-associated lymphoid tissue, however, other histologic types of lymphomas can originate from ocular adnexal tissues, including rare cases of NK/T-cell lymphomas of nasal type. OAL non-Hodgkin lymphoma of ocular adnexa ocular adnexa non-Hodgkin lymphoma ocular adnexal lymphoma ocular adnexal lymphoma MONDO:0020647 MFRG microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome MONDO:0020648 rubella encephalitis MONDO:0020649 A squamous cell carcinoma that arises from the penis. It is characterized by a papillary growth pattern, hyperkeratosis and parakeratosis. Koilocytotic atypia is present. Human papillomavirus types 16 and 6 have been identified in some cases. condylomatous carcinoma of penis condylomatous carcinoma of the penis condylomatous penile squamous cell carcinoma condylomatous squamous cell carcinoma of penis condylomatous squamous cell carcinoma of the penis squamous cell carcinoma of penis, condylomatous type squamous cell carcinoma of penis, warty type squamous cell carcinoma of the penis, condylomatous type squamous cell carcinoma of the penis, warty type warty carcinoma of penis warty carcinoma of the penis warty penile squamous cell carcinoma warty squamous cell carcinoma of penis warty squamous cell carcinoma of the penis warty carcinoma of the penis MONDO:0020650 germ cell tumor of the vulva MONDO:0020651 mixed germ cell tumor of vulva MONDO:0020652 immature teratoma of vulva MONDO:0020653 An adenocarcinoma arising from the vagina. Morphologic variants include the clear cell, endometrioid, mesonephric, and mucinous adenocarcinoma. adenocarcinoma of the vagina adenocarcinoma of vagina vagina adenocarcinoma vaginal adenocarcinoma vaginal adenocarcinoma MONDO:0020654 A transitional cell carcinoma that arises from the renal pelvis and ureter. TCC of renal pelvis and ureter TCC of the renal pelvis and ureter renal pelvis and ureter TCC renal pelvis and ureter transitional cell cancer renal pelvis and ureter transitional cell carcinoma renal pelvis and ureter urothelial carcinoma transitional cell cancer of renal pelvis and ureter transitional cell cancer of the renal pelvis and ureter transitional cell carcinoma of renal pelvis and ureter urothelial carcinoma of the renal pelvis and ureter renal pelvis/ureter urothelial carcinoma MONDO:0020655 juvenile ankylosing spondylitis MONDO:0020656 A squamous cell carcinoma that arises from the penis and is caused by human papillomavirus infection. Morphologic variants include basaloid carcinoma and warty carcinoma. HPV-related penile squamous cell carcinoma human papilloma virus related penile squamous cell carcinoma human papilloma virus-related penile squamous cell carcinoma human papillomavirus-related penile squamous cell carcinoma human papillomavirus-related penile squamous cell carcinoma MONDO:0020657 HPV-related squamous cell carcinoma human papilloma virus related squamous cell carcinoma human papilloma virus-related squamous cell carcinoma human papillomavirus-related squamous cell carcinoma human papillomavirus-related squamous cell carcinoma MONDO:0020658 infiltrating ureter transitional cell carcinoma MONDO:0020659 UTUC transitional cell carcinoma of the pelvis and ureter transitional cell carcinoma of the upper urinary tract upper tract urothelial carcinoma MONDO:0020660 A conventional osteosarcoma characterized by the predominance of osteoid matrix. osteoblastic osteosarcoma osteoblastic osteosarcoma MONDO:0020661 An undifferentiated soft tissue sarcoma characterized by the presence of uniform round or ovoid malignant cells with a high nuclear to cytoplasmic ratio. undifferentiated round cell sarcoma undifferentiated round cell sarcoma MONDO:0020662 A low grade serous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion. It is often asymptomatic but rarely it may present with abdominal pain or abdominal enlargement due to rupture or torsion. borderline ovarian serous neoplasm borderline ovarian serous tumor borderline serous neoplasm of ovary borderline serous neoplasm of the ovary borderline serous tumor of ovary borderline serous tumor of the ovary ovarian serous neoplasm of low malignant potential ovarian serous tumor of low malignant potential proliferating ovarian serous neoplasm proliferating ovarian serous tumor proliferating serous neoplasm of ovary proliferating serous neoplasm of the ovary proliferating serous tumor of ovary proliferating serous tumor of the ovary serous neoplasm of ovary with low malignant potential serous neoplasm of the ovary with low malignant potential serous ovarian neoplasm of low malignant potential serous ovarian tumor of low malignant potential serous tumor of ovary with low malignant potential serous tumor of the ovary with low malignant potential borderline ovarian serous tumor MONDO:0020663 A malignant neoplasm characterized by the presence of atypical spindle cells. malignant spindle cell neoplasm malignant spindle cell tumor spindle cell cancer malignant spindle cell neoplasm MONDO:0020664 A benign or malignant neoplasm characterized by the presence of neoplastic spindle cells. spindle cell neoplasm spindle cell tumor spindle cell neoplasm MONDO:0020665 high grade malignant neoplasm high grade malignant neoplasm MONDO:0020666 A sarcoidosis characterized by the triad of erythema nodosum, bilateral hilar lymphadenopathy on chest radiograph, and joint pain. Loefgrens syndrome Löfgrens syndrome Löfgren syndrome MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis ABS2 multisynostotic osteodysgenesis with long bone fractures osteodysgenesis, multisynostotic, with fractures trapezoidocephaly-synostosis Syndrome Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis MONDO:0020669 A primary or metastatic malignant neoplasm involving the paranasal sinuses. malignant accessory sinus neoplasm malignant accessory sinus tumor malignant neoplasm of accessory sinus malignant neoplasm of paranasal sinus malignant neoplasm of the accessory sinus malignant neoplasm of the paranasal sinus malignant paranasal sinus neoplasm malignant paranasal sinus tumor malignant tumor of accessory sinus malignant tumor of paranasal sinus malignant tumor of the accessory sinus malignant tumor of the paranasal sinus paranasal sinus cancer MONDO:0020672 A disorder characterized by occlusion of blood vessels. It differs from thrombosis in that it can be used to describe any form of blockage, not just one formed by a clot. vascular occlusion vascular occlusion disorder MONDO:0020673 Complete closure of the normally patent lumen of the blood vessels which carry blood away from the heart. arterial obstruction arterial occlusion arterial occlusion MONDO:0020674 vascular insufficiency vascular insufficiency disorder MONDO:0020675 Disease of the large or small intestine that is caused by inadequate blood supply. ischemic bowel disease ischemic bowel disorder MONDO:0020677 sudden hearing loss disorder MONDO:0020678 Hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII). SNHL sensorineural deafness sensorineural hearing loss sensorineural hearing loss disorder neurosensory deafness sensorineural hearing loss disorder MONDO:0020679 Hearing loss caused by impaired transmission of signals from the external auditory canal or middle ear to the cochlea. conductive deafness conductive hearing loss conductive hearing loss disorder MONDO:0020680 Acute inflammation of the bronchioles usually caused by the respiratory syncytial virus. acute bronchiolitis Capillary pneumonia acute Bronchiolitis acute capillary bronchiolitis capillary pneumonia acute bronchiolitis MONDO:0020681 https://github.com/monarch-initiative/mondo/issues/4948 Arthrogryposis, Distal, with peculiar facies and hydronephrosis Dundar syndrome EDSMC EDSMC1 Ehlers-Danlos syndrome, musculocontractural type, 1 Ehlers-Danlos syndrome, type Vib Ehlers-Danlos syndrome, type Vib, formerly adducted thumb, clubfoot, and Progressive Joint and skin laxity syndrome adducted thumb-clubfoot syndrome Ehlers-Danlos syndrome, musculocontractural type 1 MONDO:0020682 https://github.com/monarch-initiative/mondo/issues/4025 https://github.com/monarch-initiative/mondo/issues/4948 EDSSPD1 Ehlers-Danlos syndrome with Short stature and Limb anomalies Ehlers-Danlos syndrome, progeroid type 1 Ehlers-Danlos syndrome, progeroid type, 1 Ehlers-Danlos syndrome, spondylodysplastic type, 1 PDS, defective biosynthesis of XGPT deficiency dermatan sulfate proteoglycan galactosyltransferase 1 deficiency proteodermatan sulfate, defective biosynthesis of xylosylprotein 4-Beta-galactosyltransferase deficiency Ehlers-Danlos syndrome, progeroid type, 1, formerly Ehlers-Danlos syndrome, spondylodysplastic type, 1 MONDO:0020683 Disease having a short and relatively severe course. acute disease acute diseases disease, acute acute disease MONDO:0020684 EDS 8 EDSPD1 Ehlers-Danlos syndrome, periodontal type, 1 Ehlers-Danlos syndrome, periodontitis type Ehlers-Danlos syndrome, periodontosis type Ehlers-Danlos syndrome, type 8 Ehlers-Danlos syndrome, periodontal type 1 MONDO:0020685 An ependymal tumor arising from the infratentorial region of the brain. infratentorial ependymal tumor infratentorial ependymal tumor MONDO:0020686 An acute inflammation of the tonsils caused by viruses or bacteria. Signs and symptoms include fever, enlargement of the tonsils, difficulty swallowing, and enlargement of the regional lymph nodes. acute tonsillitis acute adenoiditis infective tonsillitis acute tonsillitis MONDO:0020687 An ependymal tumor arising from the supratentorial region of the brain. supratentorial ependymal tumor supratentorial ependymal tumor MONDO:0020688 Reduced blood flow to the spinal cord which is supplied by the anterior spinal artery and the paired posterior spinal arteries. This condition may be associated with arteriosclerosis, trauma, emboli, diseases of the aorta, and other disorders. Prolonged ischemia may lead to infarction of spinal cord tissue. cord Ischemias, spinal cord ischemia, spinal experimental spinal cord ischemia ischemia, spinal cord ischemias, spinal cord ischemic myelopathies ischemic myelopathy myelopathies, ischemic myelopathy, ischemic spinal cord Ischemias spinal cord ischemia, experimental spinal cord ischemia MONDO:0020689 A neurologic condition associated with the ACQUIRED IMMUNODEFICIENCY SYNDROME and characterized by impaired concentration and memory, slowness of hand movements, ATAXIA, incontinence, apathy, and gait difficulties associated with HIV-1 viral infection of the central nervous system. Pathologic examination of the brain reveals white matter rarefaction, perivascular infiltrates of lymphocytes, foamy macrophages, and multinucleated giant cells. (From Adams et al., Principles of Neurology, 6th ed, pp760-1; N Engl J Med, 1995 Apr 6;332(14):934-40) AIDS dementia AIDS dementia complex ADC ADC - Acquired immune deficiency syndrome dementia complex AIDS - Acquired immune deficiency syndrome dementia complex AIDS Dementia AIDS Dementia Complex AIDS Encephalopathies AIDS Encephalopathy AIDS RELAT DEMENTIA COMPLEX AIDS related Dementia Complex AIDS related cognitive impairment AIDS with dementia (disorder) AIDS-related Dementia Complex Acquired immune deficiency syndrome dementia complex Acquired immune deficiency syndrome-related dementia Acquired-Immune Deficiency Syndrome Dementia Complex Complex, AIDS Dementia Complex, AIDS-related Dementia DEMENTIA COMPLEX ACQUIRED IMMUNE DEFIC SYNDROME DEMENTIA COMPLEX AIDS RELAT Dementia Complex, AIDS Dementia Complex, AIDS related Dementia Complex, AIDS-related Dementia Complex, Acquired Immune Deficiency Syndrome Dementia associated with AIDS Dementia associated with acquired immunodeficiency syndrome Dementia, HIV Dementias, HIV Encephalopathies, AIDS Encephalopathies, HIV Encephalopathy, AIDS Encephalopathy, HIV HIV 1 Associated Cognitive Motor Complex HIV 1 Cognitive and Motor Complex HIV ASSOC COGNITIVE MOTOR COMPLEX HIV Associated Cognitive Motor Complex HIV Dementia HIV Dementias HIV Encephalopathies HIV Encephalopathy HIV associated cognitive and motor complex HIV encephalitis HIV-1 Cognitive and Motor Complex HIV-1-Associated Cognitive Motor Complex HIV-Associated Cognitive Motor Complex HIV-associated dementia acquired immune deficiency syndrome dementia complex acquired immune deficiency syndrome-related dementia AIDS dementia complex MONDO:0020690 glioblastoma adult glioblastoma adult glioblastoma multiforme grade IV adult astrocytic neoplasm grade IV adult astrocytic tumor adult glioblastoma MONDO:0020692 https://github.com/monarch-initiative/mondo/issues/4948 spondylocostal dysostosis 1, autosomal recessive SCDO1 spondylothoracic dysostosis spondylothoracic dysplasia vertebral anomalies spondylocostal dysostosis 1, autosomal recessive MONDO:0020693 A benign form of phosphorylase kinase deficiency caused by variants in PHKA2 or PHKG2 and characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood. https://github.com/monarch-initiative/mondo/issues/4985 glycogen storage disease due to liver phosphorylase kinase deficiency MONDO:0020694 A carcinoma that arises from the salivary glands, most often the parotid gland. It presents as a slow growing and painless mass. It is characterized by the presence of duct-like structures lined by two layers of cells, an inner layer composed of epithelial-type cells and an outer layer composed of clear, myoepithelial-type cells. salivary gland epithelial myoepithelial carcinoma salivary gland epithelial myoepithelial carcinoma MONDO:0020695 A type of cerebral palsy characterized by decreased muscle tone. hypotonic cerebral palsy hypotonic cerebral palsy MONDO:0020696 A disease characterized by low serum levels of vitamin B12, either inherited or acquired. cobalamin deficiency hypocobalaminemia vitamin b12 deficiency vitamin B12 deficiency MONDO:0020697 A lung carcinoma arising within the bronchi or bronchial tubes. It is characterized by the presence of myoepithelial cells, spindle cells, clear cells, and duct-forming epithelial cells. Surgical resection may be curative. lung epithelial-myoepithelial cancer lung epithelial-myoepithelial carcinoma lung epithelial-myoepithelial carcinoma MONDO:0020698 inborn error of biotin metabolism MONDO:0020699 A deficiency in biotin through either inherited or acquired causes. biotin metabolic disease MONDO:0020701 BDA1 BRACHYDACTYLY, type A1 Farabee-type Brachydactyly brachydactyly type A1A MONDO:0020702 autosomal dominant epidermolytic ichthyosis MONDO:0020703 erythroid neoplasm erythroid tumor erythroid neoplasm MONDO:0020704 A rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase. RMD rippling muscle disease inherited rippling muscle disease MONDO:0020705 https://github.com/monarch-initiative/mondo/issues/4521 neural tube defects spina bifida, susceptibility to NTD neural tube defects, SUSCEPTIBILITY to spina bifida neural tube defects, susceptibility to MONDO:0020706 Osteophytes that most commonly develop on the distal interphalangeal joints, often in the setting of osteoarthritis. Heberden's node tuberculum arthriticum Heberden's node MONDO:0020707 Hearing loss resulting from disorders of the central nervous system auditory pathways. central hearing loss central hearing loss MONDO:0020708 A neurodegenerative condition characterized by asymmetric weakness in the upper extremities resulting from segmental lower motor neuron dysfunction. BAD FAS brachial amyotrophic diplegia flail arm syndrome man-in-barrel syndrome brachial amyotrophic diplegia MONDO:0020709 An inflammatory and granulomatous, dermatophytic infection that is classified into two forms, depending on the affected individual’s health situation and clinical picture. The first form is mainly observed in healthy individuals and is defined as a perifollicular, papular form induced by penetrating trauma that is mostly observed in the lower extremities. The second form is granulomatous, related to immunosuppression, seen in a nodular form, and usually appears on the upper extremities. Majocchi's granuloma Majocchi granuloma MONDO:0020710 Inflammation of the amnion. https://github.com/monarch-initiative/mondo/issues/2016 amnionitis infection of amniotic cavity amniotic infection syndrome Infection of amniotic cavity amnionitides amniotic cavity infection amnionitis MONDO:0020711 A thyroid hormone resistance syndrome characterized by resistance in peripheral tissues but not in the pituitary. PerRTH selective peripheral resistance to thyroid hormone MONDO:0020712 https://github.com/monarch-initiative/mondo/issues/4521 46,XY gonadal dysgenesis, complete, SRY-related 46,XY sex reversal 1 46,XY sex reversal type 1 46,XY sex reversal, SRY-related 46,XY true hermaphroditism, SRY-related 46XY sex reversal 1, Y-linked SRXY1 46,XY sex reversal 1 MONDO:0020713 PVOD1 pulmonary venoocclusive disease 1, autosomal dominant pulmonary venoocclusive disease 1 MONDO:0020714 mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MONDO:0020715 https://github.com/monarch-initiative/mondo/issues/4521 MSA1 MSA1, susceptibility to multiple system atrophy 1, susceptibility to multiple system atrophy, susceptibility to multiple system atrophy 1, susceptibility to MONDO:0020716 TDH1 hypothyroidism, congenital, due to dyshormonogenesis, 1 iodine accumulation, transport, or trapping defect thyroid dyshormonogenesis 1 thyroid dyshormonogenesis type 1 thyroid hormonogenesis, genetic defect in, 1 familial thyroid dyshormonogenesis 1 MONDO:0020717 https://github.com/monarch-initiative/mondo/issues/4521 woolly hair, autosomal dominant ADWH autosomal dominant woolly hair MONDO:0020718 https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4921 CSBS congenital short bowel syndrome congenital short bowel syndrome 1 congenital short bowel syndrome due to CLMP variation congenital short bowel syndrome, autosomal recessive MONDO:0020720 https://github.com/monarch-initiative/mondo/issues/2844 X-linked hypophosphatemic rickets X-linked hypophosphatemic rickets (recessive or dominant) X-linked hypophosphatemic rickets MONDO:0020721 https://github.com/monarch-initiative/mondo/issues/4521 X-linked sideroblastic anemia XLSA anemia, sideroblastic, 1, X-linked recessive sideroblastic anemia, X-linked ANH1 SIDBA1 X chromosome-linked sideroblastic anemia anemia hereditary sideroblastic anemia sex-linked hypochromic sideroblastic anemia, hereditary sideroblastic anemia, hypochromic anemia, sideroblastic, 1 anemia, sideroblastic, X-linked erythroid 5-aminolevulinate synthase deficiency hereditary iron-loading Anemia sideroblastic anemia X-linked X-linked sideroblastic anemia 1 MONDO:0020722 CAON nephrolithiasis, calcium oxalate urolithiasis, calcium oxalate nephrolithiasis susceptibility caused by SLC26A1 MONDO:0020723 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 vitamin D-dependent rickets, type 1A vitamin D-dependent rickets, type I 1-Alpha, 25-Hydroxyvitamin D3 deficiency, selective 1-Alpha-Hydroxylase deficiency 25-hydroxycholecalciferol-1-Hydroxylase deficiency PDDR 1A VDDR1A pseudovitamin D-deficiency rickets, type 1A vitamin D dependency, type 1 vitamin D hydroxylation-deficient rickets, type 1A vitamin D-dependent rickets, type 1A MONDO:0020724 https://github.com/monarch-initiative/mondo/issues/4521 cerebral cavernous malformation 1 cerebral cavernous malformations-1 familial cerebral cavernous malformation 1 CCM cavernous angioma, familial cavernous angiomatous malformations cavernous malformations of CNS and retina cerebral capillary malformations cerebral cavernous malformations cerebral cavernous malformations 1 hyperkeratotic cutaneous capillary-Venous malformations associated with cerebral capillary malformations cerebral cavernous malformation 1 MONDO:0020725 Anemia due to a disorder that is persistent or long-standing in nature. anemia due to chronic disorder anemia of chronic disease anemia of chronic illness anemia of chronic inflammation Secondary anemia anemia due to Chronic Disorder anemia of chronic disorder anemia of systemic disease anemia due to chronic disorder MONDO:0020726 An inherited disorder that causes a gradual loss of kidney function, caused by a mutation in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function. ADTKD-MUC1 MCKD1 MUC1-related autosomal dominant medullary cystic kidney disease MUCI-related ADTKD autosomal dominant medullary cystic kidney disease without hyperuricemia autosomal dominant tubulointerstitial kidney disease due to mutations in MUC1 medullary cystic kidney disease 1 medullary cystic kidney disease type 1 medullary cystic kidney disease, autosomal dominant ADMCKD1 MUC1-related autosomal dominant tubulointerstitial kidney disease Mckd polycystic kidneys, medullary type tubulointerstitial kidney disease, autosomal dominant, 2 https://rarediseases.info.nih.gov/diseases/7002/autosomal-dominant-tubulointerstitial-kidney-disease-due-to-muc1-mutations MONDO:0020727 combined oxidative phosphorylation deficiency 22 COXPD22 combined oxidative phosphorylation deficiency type 22 combined oxidative phosphorylation deficiency 22 MONDO:0020728 https://github.com/monarch-initiative/mondo/issues/4521 hypouricemia, renal Dalmatian hypouricemia RHUC1 hypouricemia, renal, 1 hypouricemia, renal, type 1 renal hypouricemia hypouricemia, renal 1 MONDO:0020729 AGM1 autosomal recessive agammaglobulinemia 1 agammaglobulinemia 1, autosomal recessive agammaglobulinemia, autosomal recessive, due to IGHM defect autosomal recessive agammaglobulinemia 1 MONDO:0020730 https://github.com/monarch-initiative/mondo/issues/4521 carpal tunnel syndrome CTS1 amyotrophy, thenar, of carpal origin carpal tunnel syndrome, familial CTS carpal tunnel syndrome 1 MONDO:0020731 A viral infection that is transmitted by an arthropod. arbovirus infection arthropod-borne viral infection ARBOVIRUS INFECT Arboviral disease Arbovirus Infection Arbovirus Infections Arbovirus infection Arthropod-Borne Viral Infection Arthropod-borne viral infection Infection, Arbovirus Infections, Arbovirus arbovirus infection MONDO:0020732 https://github.com/monarch-initiative/mondo/issues/5537 progeria MONDO:0020733 Cushing symphalangism SYM1A Sym1 hereditary absence of the proximal interphalangeal joints symphalangism, proximal, 1A symphalangism, proximal, type 1A proximal symphalangism 1A MONDO:0020735 https://github.com/monarch-initiative/mondo/issues/4521 ACTH-independent macronodular adrenal hyperplasia, Somatic mutation ACTH-independent macronodular adrenal hyperplasia ACTH-independent macronodular adrenocortical hyperplasia AIMAH1 Cushing syndrome, adrenal, due to AIMAH adrenocorticotropic hormone-independent macronodular adrenal hyperplasia corticotropin-independent macronodular adrenal hyperplasia ACTH-independent macronodular adrenal hyperplasia 1 MONDO:0020736 uncombable hair syndrome 1 UHS1 pili trianguli Et canaliculi uncombable hair syndrome uncombable hair syndrome 1 MONDO:0020737 optic atrophy 10 with or without ataxia, intellectual disability, and seizures OPA10 optic atrophy 10 with or without ataxia, mental retardation, and seizures optic atrophy 10 with or without ataxia, intellectual disability, and seizures MONDO:0020738 https://github.com/monarch-initiative/mondo/issues/4521 symmetric circumferential skin creases, congenital, 1 CSCSC1 skin creases, congenital symmetric circumferential, 1 multiple benign circumferential skin creases on limbs 1 MONDO:0020739 HCINF1 autosomal recessive infantile hypercalcemia 1 hypercalcemia, infantile, 1 hypercalcemia, infantile, 1 MONDO:0020740 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5520 EDA-Id HED-Id EDAID1 ectodermal dysplasia and immunodeficiency 1, X-linked recessive ectodermal dysplasia, anhidrotic, with immune deficiency 1 ectodermal dysplasia, hypohidrotic, with immune deficiency 1 ectodermal dysplasia and immunodeficiency 1 MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant AASA dehydrogenase deficiency EPD Epd epilepsy, pyridoxine-dependent pyridoxine dependency with seizures pyridoxine-dependent epilepsy pyridoxine-dependent epilepsy caused by ALDH7A1 mutant MONDO:0020743 An acute leukemia of ambiguous lineage. It is characterized by the presence of either separate populations of blasts of more than one lineage, or one population of blasts co-expressing markers of more than one lineage. MPAL mixed phenotype acute leukemia mixed phenotype acute leukemia MONDO:0020744 A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a progressively lengthening PR interval prior to the block of an atrial impulse. (CDISC) AV block second degree Mobitz type I AV block second degree Möbitz type I Mobitz I Mobitz type I Mobitz type I second degree AV block Möbitz I Möbitz type I second degree AV block Wenckebach block second degree atrioventricular block Mobitz type I second degree atrioventricular block Möbitz type I type 1 2nd degree AV block type 1 second degree AV block type 1 second degree atrioventricular block Mobitz type I atrioventricular block MONDO:0020745 https://github.com/monarch-initiative/mondo/issues/4521 VACRDS autosomal dominant cardiac arrhythmia (Kuhn) ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome cardiac arrhythmia extrasystoles ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome MONDO:0020746 https://github.com/monarch-initiative/mondo/issues/4521 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B contractures, pterygia, and variable skeletal fusions syndrome 1B MONDO:0020747 STSL1 sitosterolemia 1 sitosterolemia 1 MONDO:0020748 STSL2 sitosterolemia 2 MONDO:0020749 https://github.com/monarch-initiative/mondo/issues/4948 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 MONDO:0020750 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 MONDO:0020751 orthostatic hypotension 2 MONDO:0020752 https://github.com/monarch-initiative/mondo/issues/1348 https://github.com/monarch-initiative/mondo/issues/4147 https://github.com/monarch-initiative/mondo/issues/5507 EJM1 The OMIM entry is named generically, the same as the PS (https://omim.org/phenotypicSeries/PS254770) but it refers to a susceptibility conferred by a specific gene. myoclonic epilepsy, juvenile, susceptibility to, 1 MONDO:0020753 Infectious disease causes by viruses in the subfamily Orthocoronavirinae (coronaviruses). In humans, coronaviruses cause respiratory tract infections that can be mild, such as some cases of the common cold (among other possible causes, predominantly rhinoviruses), and others that can be lethal, such as SARS, MERS, and COVID-19. coronavirus infectious disease Orthocoronavirinae infectious disease MONDO:0020754 https://github.com/monarch-initiative/mondo/issues/4521 visceral myopathy visceral myopathy 1 VSCM infantile visceral myopathy megaduodenum and/or megacystis pseudoobstruction, idiopathic intestinal visceral myopathy MONDO:0020756 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5753 FHM1 MHP1 familial hemiplegic migraine type 1 hemiplegic migraine, familial type 1 migraine, familial hemiplegic 1, with progressive cerebellar ataxia migraine, familial hemiplegic, 1 migraine, familial hemiplegic, 1, with progressive cerebellar ataxia migraine, familial hemiplegic, type 1 migraine, sporadic hemiplegic migraine, familial hemiplegic, 1 MONDO:0020757 A migraine disorder characterized by an aura that includes motor weakness and the absence of family history. sporadic hemiplegic migraine sporadic hemiplegic migraine MONDO:0020759 https://github.com/monarch-initiative/mondo/issues/4521 ECA1 epilepsy, childhood absence, 1 epilepsy, childhood absence, susceptibility to, 1 epilepsy, childhood absence, susceptibility to, 1 MONDO:0020760 Intraepidermal squamous cell carcinoma, confined to the epidermis. There is no evidence of invasion. intraepidermal squamous cell carcinoma skin squamous cell cancer in situ skin squamous cell carcinoma in situ squamous cell carcinoma in situ of skin squamous cell carcinoma in situ of the skin skin squamous cell carcinoma in situ MONDO:0020761 A form of squamous cell carcinoma in situ. It is a distinct clinicopathological entity and arises from the skin or the mucocutaneous junction. It affects predominantly white males in their 6-8th decades of life. Exposed and non-exposed skin sites are equally affected. UV damage and ingestion of inorganic arsenic may play a role in the development of the disease. On the skin surface, it presents as a single or multiple erythematous, scaly, keratotic patches or plaques. The clinical entity of erythroplasia of Queyrat is regarded as Bowen disease of the penis and it presents as an asymptomatic, red, circumscribed plaque. Morphologically, Bowen disease is characterized by the presence of hyperkeratosis, parakeratosis, dyskeratosis, and acanthosis. The keratotic squamous cells are atypical and display hyperchromatism and abnormal mitotic figures. The dermoepidermal basement membrane is intact. Complete surgical removal of the lesion may be curative. Bowen disease Bowen disease of the skin Bowen's disease of the skin intraepidermal squamous cell carcinoma, Bowen type Bowen Disease Bowens Disease Disease, Bowen Disease, Bowen's Bowen disease of the skin MONDO:0020762 DMJDS2 spastic tetraparesis, dystonia, developmental delay, and structural abnormalities of the basal ganglia diencephalic-mesencephalic junction dysplasia syndrome 2 MONDO:0020763 Menke-Hennekam syndrome 1 MKHK1 Menke-Hennekam syndrome 1 MONDO:0020765 https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 CHN2 NEUROPATHY, CONGENITAL HYPOMYELINATING, 2 hypomyelinating neuropathy, congenital, 2 neuropathy, congenital hypomyelinating, 2 MONDO:0020766 https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 CHN3 NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 hypomyelinating neuropathy, congenital, 3 neuropathy, congenital hypomyelinating, 3 MONDO:0020767 A rare neurologic disorder caused by impingement of the nerve roots of the cauda equina secondary to disc herniation, spinal stenosis, vertebral fracture, neoplasm or infection. Clinical signs may include bladder or bowel dysfunction, paresthesia and weakness of the lower extremities. The development of neurogenic bladder implies that surgical decompression was either ineffective, delayed or not attempted. cauda equina syndrome with neurogenic bladder Cauda Equina Syndrome with Neurogenic Bladder Cauda equina syndrome with neurogenic bladder cauda equina syndrome with neurogenic bladder MONDO:0020768 DFNX X-linked deafness deafness, X-linked deafness, X-linked, DFN Note that this encompasses both syndromic and non-syndromic types. X-linked deafness MONDO:0020769 Menke-Hennekam syndrome 2 MKHK2 Menke-Hennekam syndrome 2 MONDO:0020770 SCAN3 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020771 https://github.com/monarch-initiative/mondo/issues/5347 SCAN spinocerebellar ataxia, autosomal recessive, with axonal neuropathy MONDO:0020772 EJA1 EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1 JAE1 epilepsy, juvenile absence, susceptibility to, 1 MONDO:0020773 Discharge of cerebrospinal fluid through the nose. Common etiologies include trauma, neoplasms, and prior surgery, although the condition may occur spontaneously. (Otolaryngol Head Neck Surg 1997 Apr;116(4):442-9) cerebrospinal fluid rhinorrhea CSF - Cerebrospinal rhinorrhea CSF Rhinorrhea CSF Rhinorrheas CSF rhinorrhoea Cerebrospinal Fluid Rhinorrhea Cerebrospinal Fluid Rhinorrhea, Spontaneous Cerebrospinal Fluid Rhinorrhea, Traumatic Cerebrospinal Fluid Rhinorrhea, post Traumatic Cerebrospinal Fluid Rhinorrhea, post-Traumatic Cerebrospinal Fluid Rhinorrheas Cerebrospinal Rhinorrhea Cerebrospinal Rhinorrheas Cerebrospinal fluid rhinorrhea Cerebrospinal fluid rhinorrhoea Cerebrospinal rhinorrhea Rhinorrhea, CSF Rhinorrhea, Cerebrospinal Rhinorrhea, Cerebrospinal Fluid Rhinorrhea, Cerebrospinal Fluid, Spontaneous Rhinorrhea, Cerebrospinal Fluid, Traumatic Rhinorrhea, Cerebrospinal Fluid, post-Traumatic Rhinorrhea, Spontaneous Cerebrospinal Fluid Rhinorrhea, Traumatic Cerebrospinal Fluid Rhinorrhea, post-Traumatic, Cerebrospinal Fluid Rhinorrheas, CSF Rhinorrheas, Cerebrospinal Rhinorrheas, Cerebrospinal Fluid Spontaneous Cerebrospinal Fluid Rhinorrhea Spontaneous Rhinorrhea, Cerebrospinal Fluid Traumatic Cerebrospinal Fluid Rhinorrhea Traumatic Rhinorrhea, Cerebrospinal Fluid cerebrospinal rhinorrhea csf - cerebrospinal rhinorrhea post Traumatic Cerebrospinal Fluid Rhinorrhea post Traumatic Rhinorrhea, Cerebrospinal Fluid post-Traumatic Cerebrospinal Fluid Rhinorrhea post-Traumatic Rhinorrhea, Cerebrospinal Fluid cerebrospinal fluid rhinorrhea MONDO:0020774 Menke-Hennekam syndrome MONDO:0020775 CDGF1 CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1 Cdgf congenital disorder of glycosylation with defective fucosylation 1 MONDO:0020776 Infections with bacteria of the family CHLAMYDIACEAE. Chlamydiaceae Infection Chlamydiaceae Infections Infection, Chlamydiaceae Infections, Chlamydiaceae chlamydiaceae infections MONDO:0020777 CDGF2 CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2 congenital disorder of glycosylation with defective fucosylation 2 MONDO:0020778 https://github.com/monarch-initiative/mondo/issues/4521 cone-rod dystrophy and hearing loss CONE-ROD DYSTROPHY AND HEARING LOSS 1 CRDHL1 Crdhl cone-rod dystrophy and hearing loss 1 MONDO:0020779 Any dysfunction in the growth of cartilage. cartilage development disorder chondrodystrophy Congenital anomaly of cartilage abnormal development of cartilage cartilage development disorder MONDO:0020780 CONE-ROD DYSTROPHY AND HEARING LOSS 2 CRDHL2 cone-rod dystrophy and hearing loss 2 MONDO:0020781 https://github.com/monarch-initiative/mondo/issues/4521 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy NAD(P)HX epimerase deficiency ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 PEBEL1 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 MONDO:0020782 Chronic painless inflammation of the gums. It is characterized by erythema and edema of the gums and bleeding while brushing the teeth. chronic gingivitis Chronic Gingivitis Chronic gingivitis chronic gingivitis MONDO:0020783 https://github.com/monarch-initiative/mondo/issues/114 Capillary Malformation-Arteriovenous Malformation CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 CMAVM1 PKWS Parkes Weber syndrome capillary malformation-arteriovenous malformation 1 capillary malformation-arteriovenous malformation 1 https://rarediseases.info.nih.gov/diseases/9787/parkes-weber-syndrome MONDO:0020785 CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 CMAVM2 capillary malformation-arteriovenous malformation 2 MONDO:0020787 https://github.com/monarch-initiative/mondo/issues/4521 hypomagnesemia, seizures, and mental retardation HOMGSMR1 HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1 hypomagnesemia, seizures, and intellectual disability 1 MONDO:0020788 HOMGSMR2 HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2 hypomagnesemia, seizures, and intellectual disability 2 MONDO:0020789 pseudo-TORCH syndrome PTORCH1 pseudo-TORCH syndrome 1 pseudo-TORCH syndrome type 1 pseudo-TORCH syndrome 1 MONDO:0020790 https://github.com/monarch-initiative/mondo/issues/4521 HGPPS HGPPS1 gaze palsy, familial horizontal, with progressive scoliosis 1 gaze palsy, familial horizontal, with progressive scoliosis, 1 Ophthalmoplegia, Progressive External, and Scoliosis gaze palsy, familial horizontal, with progressive scoliosis 1 MONDO:0020791 https://github.com/monarch-initiative/mondo/issues/4521 meesmann corneal dystrophy 1 CORNEAL DYSTROPHY, MEESMANN, 1 Corneal Dystrophy, Juvenile Epithelial, of Meesmann Corneal Dystrophy, Meesmann Epithelial MECD1 Meesmann Corneal Dystrophy corneal dystrophy, Meesmann, 1 MONDO:0020792 dwarfism with tall vertebrae MONDO:0020793 oculopharyngodistal myopathy OPDM1 faciooculolaryngopharyngeal myopathy with distal and respiratory involvement oculopharyngodistal myopathy 1 oculopharyngodistal myopathy 1 MONDO:0020794 A rare, invasive colorectal adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis. colorectal medullary carcinoma colorectal medullary carcinoma MONDO:0020795 SILVER-RUSSELL SYNDROME 5 SRS5 Silver-Russell syndrome 5 Silver-Russell syndrome 5 MONDO:0020796 SRS1 Silver-Russell syndrome 1 MONDO:0020797 A condition occurring as a result of exposure to a rapid fall in ambient pressure. Gases, nitrogen in particular, come out of solution and form bubbles in body fluid and blood. These gas bubbles accumulate in joint spaces and the peripheral circulation impairing tissue oxygenation causing disorientation, severe pain, and potentially death. bends decompression sickness Bends CAISSON DIS Caisson Disease Caisson Diseases Caisson disease Compressed air disease Compressed-air disease Decompression Sickness Decompression sickness Disease, Caisson Diseases, Caisson Divers' palsy Divers' paralysis Rapture of the deep syndrome Sickness, Decompression The bends caisson disease compressed-air disease divers' palsy divers' paralysis the bends decompression sickness MONDO:0020798 https://github.com/monarch-initiative/mondo/issues/4521 FIH2 hypoparathyroidism, familial isolated 2 hypoparathyroidism, familial isolated, 2 hypoparathyroidism, familial isolated, 2 MONDO:0020799 A neoplastic proliferation of basal cells in the epidermis (part of the skin) or other anatomic sites (most frequently the salivary glands). The basal cell neoplastic proliferation in the epidermis results in basal cell carcinomas. The basal cell neoplastic proliferation in the salivary glands can be benign, resulting in basal cell adenomas or malignant, resulting in basal cell adenocarcinomas. basal cell tumor neoplasm, basal cell basal cell neoplasm MONDO:0020800 Any condition in which there is degeneration of the myelin sheath that covers the nerves of the central nervous system. https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/44 demyelinating CNS disease demyelinating disease central nervous system (CNS) demyelinating disease of central nervous system demyelinating disorder of central nervous system demyelinating disorders of the central nervous system demyelinating disease of central nervous system MONDO:0020801 A rare, invasive rectal adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis. rectal medullary carcinoma rectal medullary carcinoma MONDO:0020804 A carcinoma involving the basal cells. basal cell cancer epithelioma, basal cell malignant basal cell neoplasm basal cell carcinoma MONDO:0020805 A neoplasm composed of basal cells that remains localized and does not metastasize to other anatomic sites. benign basal cell tumor benign basal cell neoplasm MONDO:0020806 A heart block that is initiated in the sinoatrial node. sinoatrial block MONDO:0020807 A sex cord-stromal tumor that arises from the ovary and is composed entirely of, or in various combinations of, Sertoli cells, Leydig cells, and fibroblast-like cells. Ovarian Sertoli-Stromal Cell Tumor Ovarian Sertoli-Stromal Tumor ovarian sertoli-stromal cell tumor MONDO:0020808 A sex cord-stromal tumor that arises from the testis and is characterized by the presence of neoplastic cells with features of Sertoli cells. It usually presents as a slow growing testicular mass. The vast majority of cases follow a benign clinical course. Sertoli Cell Neoplasm of Testis Sertoli Cell Neoplasm of the Testis Sertoli Cell Tumor of Testis Sertoli Cell Tumor of the Testis Testicular Sertoli Cell Neoplasm Testicular Sertoli Cell Tumor Testicular Sertoli Cell Tumor, NOS Testicular Sertoli Cell Tumor, Not Otherwise Specified testicular sertoli cell tumor MONDO:0020809 A Sertoli cell tumor of the testis or the ovary which remains localized and does not metastasize to another anatomic site. Benign Androblastoma Benign Sertoli Cell Tumor SERTOLI CELL TUMOR, BENIGN benign sertoli cell tumor MONDO:0020811 mitochondrial complex III deficiency, nuclear type MONDO:0020812 The result of pathological changes in the hard tissue of a tooth caused by carious lesions, mechanical factors, or trauma, which render the pulp susceptible to bacterial invasion from the external environment. DENT PULP EXPOSURE Dental Pulp Exposure EXPOSURE DENT PULP Exposure of tooth pulp Exposure, Dental Pulp PULP EXPOSURE DENT Pulp Exposure, Dental exposure, dental pulp MONDO:0020813 A non-metastasizing sex cord-stromal tumor that arises from the testis. Morphologically, it is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent. benign sertoli cell neoplasm of testis benign sertoli cell neoplasm of the testis benign sertoli cell tumor of testis benign sertoli cell tumor of the testis benign testicular sertoli cell neoplasm benign testicular sertoli cell tumor benign testicular sertoli cell tumor MONDO:0020814 miliaria alba MONDO:0020815 Most common follicular odontogenic cyst. Occurs in relation to a partially erupted or unerupted tooth with at least the crown of the tooth to which the cyst is attached protruding into the cystic cavity. May give rise to an ameloblastoma and, in rare instances, undergo malignant transformation. dentigerous cyst Cyst, Dentigerous Cysts, Dentigerous Dentigerous Cyst Dentigerous Cysts Dentigerous cyst Dentigerous cyst of jaw Dentigerous odontogenic cyst dentigerous cyst of jaw dentigerous odontogenic cyst follicular cyst of jaw dentigerous cyst MONDO:0020816 miliaria papulosa MONDO:0020817 miliaria vesiculosa MONDO:0020818 Dentin formed by normal pulp after completion of root end formation. secondary dentin secondary dentine DENTIN SECOND Dentin, Secondary Dentins, Secondary Irregular dentin Irregular dentine Reparative dentine SECOND DENTIN Sclerotic dentine Secondary Dentin Secondary Dentins Secondary dentin Secondary dentine Tertiary dentine irregular dentin irregular dentine reparative dentine sclerotic dentine tertiary dentine secondary dentine MONDO:0020820 https://github.com/monarch-initiative/mondo/issues/4521 DA2B1 arthrogryposis, distal, type 2B1 distal arthrogryposis type 2B1 MONDO:0020823 infantile miliaria MONDO:0020830 diaphragmatitis diaphragmitis diaphragmitis MONDO:0020831 VCRL vertebral, cardiac, renal, and limb defects syndrome congenital vertebral-cardiac-renal anomalies syndrome MONDO:0020835 methemoglobinemia, alpha type methemoglobinemia, alpha type MONDO:0020836 autism, susceptiblity to MONDO:0020837 OOMD5 oocyte maturation defect 5 oocyte maturation defect 5 MONDO:0020838 Infection of the anterior nasal structures by Corynebacterium diphtheriae. anterior nasal diphtheria Anterior Nasal Diphtheria Anterior nasal diphtheria anterior nasal diphtheria MONDO:0020840 A primarily a lung disorder characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis (PAP) in the first months of life. Affected individuals may have normal respiratory function at birth. Development of the disorder appears to be influenced or triggered by viral infection, manifest as progressive respiratory insufficiency, confluent consolidations on lung imaging, and diffuse collection of periodic acid-Schiff (PAS)-positive material in pulmonary alveoli associated with small and nonfoamy alveolar macrophages. Patients also have hypogammaglobulinemia, leukocytosis, and splenomegaly. Many patients die of respiratory failure in infancy or early childhood; hematopoietic stem cell transplantation (HSCT) is curative. The pathogenesis may be related to abnormal function of alveolar macrophages, resulting in decreased catabolism of surfactant. The disorder results from a gain-of-function effect that particularly affects B cells and monocytes. https://github.com/monarch-initiative/mondo/issues/5261 PAPHG immunodeficiency (due to OAS1 gain-of-function variant) with pulmonary alveolar proteinosis and hypogammaglobulinemia pulmonary alveolar proteinosis with hypogammaglobulinemia pulmonary alveolar proteinosis with hypogammaglobulinemia MONDO:0020841 https://github.com/monarch-initiative/mondo/issues/3680 NEDCAS neurodevelopmental disorder with cerebellar atrophy and with or without seizures neurodevelopmental disorder with cerebellar atrophy and with or without seizures MONDO:0020843 Pseudomembranous colitis resulting from infection by Corynebacterium diphtheriae. conjunctival diphtheria pseudomembranous diphtheritic conjunctivitis Conjunctival diphtheria pseudomembranous diphtheritic conjunctivitis MONDO:0020845 PEOB5 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 progressive external ophthalmoplegia, autosomal recessive 5 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 MONDO:0020846 MENTAL RETARDATION, autosomal recessive 64 MRT64 intellectual disability, autosomal recessive 64 MONDO:0020847 MENTAL RETARDATION, autosomal dominant 58 MRD58 intellectual disability, autosomal dominant 58 MONDO:0020848 OPTA3 OSTEOPETROSIS, autosomal dominant 3 osteopetrosis, autosomal dominant 3 MONDO:0020849 https://github.com/monarch-initiative/mondo/issues/4521 IMD57 IMMUNODEFICIENCY 57 immunodeficiency 57 with autoinflammation immunodeficiency 57 MONDO:0020850 MRT65 intellectual disability, autosomal recessive 65 mental retardation, autosomal recessive 65 intellectual disability, autosomal recessive 65 MONDO:0020851 SPGF30 spermatogenic failure 30 spermatogenic failure 30 MONDO:0020852 SPGF31 spermatogenic failure 31 spermatogenic failure 31 MONDO:0020853 https://github.com/monarch-initiative/mondo/issues/5671 Encephalitis/encephalopathy, mild, with reversible splenial lesion MMERV encephalitis/encephalopathy, mild, with reversible myelin vacuolization encephalitis/encephalopathy, mild, with reversible myelin vacuolization MONDO:0020854 Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1G gene. LIDLS2 Liddle syndrome 2 Liddle syndrome caused by mutation in SCNN1G SCNN1G Liddle syndrome Liddle syndrome 2 MONDO:0020855 SPGF32 spermatogenic failure 32 spermatogenic failure 32 MONDO:0020856 BMFS4 BONE MARROW FAILURE SYNDROME 4 bone marrow failure syndrome 4 MONDO:0020857 ODG7 OVARIAN DYSGENESIS 7 ovarian dysgenesis 7 MONDO:0020858 https://github.com/monarch-initiative/mondo/issues/4521 MC5DN5 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 Mitochondrial Complex 5 (ATP Synthase) Deficiency, ATP5F1D Type mitochondrial complex v (atp synthase) deficiency mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 MONDO:0020860 Infection of the fauces by Corynebacterium diphtheriae. faucial diphtheria Diphtheritic membrane Diphtheritic membranous angina Faucial Diphtheria Faucial diphtheria diphtheritic membrane diphtheritic membranous angina faucial diphtheria MONDO:0020863 Infection of the larynx by Corynebacterium diphtheriae. laryngeal diphtheria Diphtheritic laryngotracheitis Laryngeal Diphtheria Laryngeal diphtheria diphtheritic laryngotracheitis laryngeal diphtheria MONDO:0020866 Infection of the nasopharynx by Corynebacterium diphtheriae. nasopharyngeal diphtheria Nasopharyngeal Diphtheria Nasopharyngeal diphtheria nasopharyngeal diphtheria MONDO:0020920 Infection with the organism Escherichia Coli. e coli infection escherichia coli infection Bacterial infection caused by E. coli Bacterial infection due to E. coli Colibacillosis E COLI INFECT E Coli Infection E coli Infection E coli Infections E coli infections E coli infections, recurrent E. coli Infection E. coli Infections E. coli infection ESCHERICHIA COLI INFECT Escherichia Coli Infection Escherichia coli Infection Escherichia coli Infections Escherichia coli infection INFECT E COLI INFECT ESCHERICHIA COLI Infection caused by Escherichia coli Infection due to Escherichia coli Infection, E coli Infection, E. coli Infection, Escherichia coli Infections, E coli Infections, Escherichia coli Recurrent E. coli infections escherichia coli infection MONDO:0020927 postaxial polydactyly MONDO:0020937 contractures, pterygia, and variable skeletal fusions syndrome MONDO:0020944 Infection by a variety of fungi, usually through four possible mechanisms: superficial infection producing conjunctivitis, keratitis, or lacrimal obstruction; extension of infection from neighboring structures - skin, paranasal sinuses, nasopharynx; direct introduction during surgery or accidental penetrating trauma; or via the blood or lymphatic routes in patients with underlying mycoses. fungal infection of eye EYE INFECT FUNGAL Eye Infection, Fungal Eye Infections, Fungal FUNGAL EYE INFECT Fungal Eye Infection Fungal Eye Infections Fungal Ocular Infection Fungal Ocular Infections Fungal eye infection Fungal infection of eye Infection, Fungal Eye Infection, Fungal Ocular Infection, Ocular Mycotic Infections, Fungal Eye Infections, Fungal Ocular Infections, Ocular Mycotic MYCOTIC INFECT OCULAR Mycoses, Ocular Mycosis, Ocular Mycotic Infection, Ocular Mycotic Infections, Ocular OCULAR INFECT FUNGAL Ocular Infection, Fungal Ocular Infections, Fungal Ocular Mycoses Ocular Mycosis Ocular Mycotic Infection Ocular Mycotic Infections Ocular mycosis Oculomycoses Oculomycosis fungal eye infection ocular mycosis fungal infection of eye MONDO:0020947 Mild to severe infections of the eye and its adjacent structures (adnexa) by adult or larval protozoan or metazoan parasites. parasitic eye infection EYE INFECT PARASITIC Eye Infection, Parasitic Eye Infections, Parasitic Infection, Parasitic Eye Infection, Parasitic Ocular Infections, Parasitic Eye Infections, Parasitic Ocular OCULAR INFECT PARASITIC Ocular Infection, Parasitic Ocular Infections, Parasitic PARASITIC EYE INFECT Parasitic Eye Infection Parasitic Eye Infections Parasitic Ocular Infection Parasitic Ocular Infections Parasitic eye infection parasitic eye infection MONDO:0020950 Infections of the eye caused by minute intracellular agents. These infections may lead to severe inflammation in various parts of the eye - conjunctiva, iris, eyelids, etc. Several viruses have been identified as the causative agents. Among these are Herpesvirus, Adenovirus, Poxvirus, and Myxovirus. viral eye infection EYE INFECT VIRAL Eye Infection, Viral Eye Infections, Viral Infection, Viral Eye Infection, Viral Ocular Infections, Viral Eye Infections, Viral Ocular OCULAR INFECT VIRAL Ocular Infection, Viral Ocular Infections, Viral VIRAL EYE INFECT Viral Eye Infection Viral Eye Infections Viral Ocular Infection Viral Ocular Infections Viral eye infection viral eye infection MONDO:0020959 An infection that is caused by the organism Mansonella ozzardi. mansonella ozzardi infection Filariasis ozzardi Ozzardian filariasis filariasis ozzardi Mansonella ozzardi infection MONDO:0020971 Inflammation of the urethra secondary to infection with Neisseria gonorrhoeae; this infection is spread through sexual contact. gc urethritis gonococcal urethritis Gonococcal urethritis gonococcal urethritis MONDO:0020974 A tumor-like nodule or mass of inflammatory granulation tissue projecting into the lumen of the LARYNX. laryngeal granuloma Granuloma of Larynx Granuloma, Laryngeal Granulomas, Laryngeal Laryngeal Granuloma Laryngeal Granulomas Laryngeal granuloma Larynx Granuloma Larynx Granulomas laryngeal granuloma MONDO:0020977 An infectious or non-infectious inflammatory process that affects the prostate gland. Infectious causative agents include bacteria, parasites, fungi, and viruses. It is characterized by the formation of granulomas in the prostatic tissue. granulomatous prostatitis Granulomatous Prostatitis Granulomatous prostatitis granulomatous prostatitis MONDO:0020979 A hamartoma characterized by localized pilosebaceous apparatus malformation. pilosebaceous hamartoma pilosebaceous hamartoma MONDO:0020980 A usually benign congenital skin growth that is often pigmented and sometimes develop coarse surface hair. There is a lifetime risk of transformation to malignant melanoma which varies depending on the size of the lesion. hair nevus hairy nevus nevoid hypertrichosis hair nevus MONDO:0020983 Disease-related laceration or tearing of tissues of the heart, including the free-wall MYOCARDIUM; HEART SEPTUM; PAPILLARY MUSCLES; CHORDAE TENDINEAE; and any of the HEART VALVES. Pathological rupture usually results from myocardial infarction (HEART RUPTURE, POST-INFARCTION). Cardiac Free Wall Rupture Cardiac Rupture Cardiac Ruptures Free Wall Rupture, Heart Heart Rupture Heart Ruptures Myocardial Rupture Rupture of heart Ventricular Free Wall Rupture myocardial rupture MONDO:0020989 The persistence of substantial fetal hemoglobin production into adulthood, usually associated with hemoglobinopathies due to mutations in the alpha and/or beta chain of hemoglobin. hereditary persistence of fetal hemoglobin Disease, Hemoglobin F HEMOGLOBIN F DIS HEREDITARY PERSISTENCE of FETAL HEMOGLOBIN HPFH - Hereditary persistence of fetal hemoglobin Hb F disease Hemoglobin F Disease Hereditary Persistence of Fetal Hemoglobin Hereditary persistence of fetal hemoglobin hereditary persistence of fetal hemoglobin MONDO:0021001 Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. Due to its incidence (1/200-1/1000), it is not considered as a rare disease, unlike the other subforms of the disease https://github.com/monarch-initiative/mondo/issues/4521 C282Y/C282Y hemochromatosis HFE-associated hereditary hemochromatosis HFE-related hemochromatosis HFE1 classic hemochromatosis hemochromatosis hemochromatosis type 1 hemochromatosis, type 1 hfe hemochromatosis, modifier of symptomatic form of hemochromatosis type 1 symptomatic form of HFE-related hereditary hemochromatosis symptomatic form of classic hemochromatosis hemochromatosis type 1 MONDO:0021002 A disease characterized by the presence of syndactyly, including syndromic and non-syndromic forms. https://github.com/monarch-initiative/mondo/issues/4051 https://github.com/monarch-initiative/mondo/issues/4285 syndactyly (disease) syndactyly (disease) syndactyly MONDO:0021003 A disease characterized by the presence of polydactyly, including syndromic and non-syndromic forms. polydactyly (disease) hyperdactyly polydactylism polydactyly polydactyly (disease) postaxial polydactyly supernumerary digit polydactyly MONDO:0021004 A disease characterized by the presence of brachydactyly, including syndromic and non-syndromic forms. brachydactyly (disease) brachydactyly brachydactyly (disease) brachydactyly MONDO:0021005 A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature. This includes X-linked, AR and AD forms of Aarskog syndrome. Aarskog syndrome Aarskog-Scott syndrome faciogenital dysplasia faciodigitogenital syndrome MONDO:0021008 An antiphospholipid syndrome that occurs alongside another autoimmune disorder. secondary antiphospholipid syndrome MONDO:0021009 A carcinoma that arises from the salivary glands. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome. mucoepidermoid carcinoma of salivary gland mucoepidermoid carcinoma of the salivary gland saliva-secreting gland mucoepidermoid carcinoma salivary gland mucoepidermoid carcinoma salivary gland mucoepidermoid carcinoma MONDO:0021010 A malignant vascular neoplasm of the skin arising from the lymphatic vessels. lymphangiosarcoma of Stewart and Treves lymphangiosarcoma of skin lymphangiosarcoma of the skin skin lymphangiosarcoma skin lymphangiosarcoma MONDO:0021011 https://github.com/monarch-initiative/mondo/issues/4521 BHC chorea, benign hereditary chorea, hereditary benign hereditary progressive chorea without dementia BCH hereditary progressive chorea without dementia MONDO:0021012 https://github.com/monarch-initiative/mondo/issues/4882 KAZA1 kala-Azar, susceptibility to, 1 leishmaniasis, visceral, susceptibility to, 1 susceptibility to visceral leishmaniasis, 1 MONDO:0021013 A subtype of trichothiodystrophy caused by mutation(s) in the MPLKIP gene, encoding M-phase-specific PLK1-interacting protein. MPLKIP nonphotosensitive trichothiodystrophy Pollitt syndrome TTD4 nonphotosensitive trichothiodystrophy caused by mutation in MPLKIP trichothiodystrophy 4, nonphotosensitive Amish brittle hair brain syndrome BIDS syndrome hair-brain syndrome nonphotosensitive trichothiodystrophy trichothiodystrophy, nonphotosensitive 1 trichothiodystrophy-neurocutaneous syndrome trichothiodystrophy 4, nonphotosensitive MONDO:0021017 A disease caused by dysfunction of synapses. synaptopathy MONDO:0021018 Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3. https://github.com/monarch-initiative/mondo/issues/4521 DNAJB6 autosomal dominant limb-girdle muscular dystrophy LGMD1D LGMD1D (DNAJB6) autosomal dominant limb-girdle muscular dystrophy caused by mutation in DNAJB6 muscular dystrophy, limb-girdle, autosomal dominant 1 LGMD1E LGMD1E (Bushby and Beckmann, 2003) autosomal dominant limb-girdle muscular dystrophy type 1D autosomal dominant limb-girdle muscular dystrophy type 1E limb-girdle muscular dystrophy type 1D muscular dystrophy limb-girdle type 1D muscular dystrophy limb-girdle type 1E muscular dystrophy, limb-girdle, type 1D muscular dystrophy, limb-girdle, type 1D, formerly muscular dystrophy, limb-girdle, type 1E Terminology note: Autosomal dominant LGMD mapped to 7q36 has been classified as LGMD1E in OMIM, but as LGMD1D in the Human Gene Nomenclature Committee Database. In the literature there is another LGMD1D/E erroneously mapped to 6q, but we will use the acronym LGMD1D for the 7q-disease and LGMD1E for the 6q-form. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) MONDO:0021019 X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males. https://github.com/monarch-initiative/mondo/issues/4521 Nettleship-Falls syndrome OA1 XLOA ocular albinism type 1 ocular albinism, Nettleship-Falls type ocular albinism, type I, Nettleship-Falls type Nettleship-Falls type ocular albinism X-linked ocular albinism albinism, ocular, type 1 albinism, ocular, type I X-linked recessive ocular albinism MONDO:0021020 Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS, a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT). Crigler-Najjar syndrome, type 1 Crigler-Najjar syndrome, type I UGT deficiency type 1 bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1 bilirubin-UGT deficiency type 1 hereditary unconjugated hyperbilirubinemia type 1 hyperbilirubinemia, Crigler-Najjar type 1 Crigler Najjar syndrome, type 1 Crigler-Najjar syndrome type 1 https://rarediseases.info.nih.gov/diseases/47/crigler-najjar-syndrome-type-1 MONDO:0021021 https://github.com/monarch-initiative/mondo/issues/4948 CDD craniodiaphyseal dysplasia, autosomal dominant Schaefer Stein Oshman syndrome craniodiaphyseal dysplasia, dominant dominantly inherited craniodiaphyseal dysplasia craniodiaphyseal dysplasia, autosomal dominant MONDO:0021022 Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses. hyperekplexia Kok disease Stiff baby syndrome congenital stiff man syndrome familial startle disease hereditary hyperekplexia hereditary hyperexplexia startle disease hyperexplexia hereditary hereditary hyperekplexia MONDO:0021023 Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens. CAIS complete androgen resistance syndrome androgen insensitivity syndrome, complete complete androgen insensitivity syndrome https://rarediseases.info.nih.gov/diseases/10597/complete-androgen-insensitivity-syndrome MONDO:0021024 https://github.com/monarch-initiative/mondo/issues/4521 malaria, Severe, resistance to malaria, Severe, susceptibility to malaria, cerebral, reduced risk of malaria, cerebral, resistance to malaria, cerebral, susceptibility to malaria, protection against malaria, resistance to malaria, susceptibility to malaria, vivax, protection against resistance to malaria due to G6PD deficiency malaria, susceptibility to MONDO:0021025 cirrhosis, familial cirrhosis, familial, with antigenemia MONDO:0021026 An instance of epidermal appendage anomaly that is caused by a modification of the individual's genome. genetic epidermal appendage anomaly genetic epidermal appendage anomaly MONDO:0021029 An instance of sebaceous gland anomaly that is caused by a modification of the individual's genome. genetic sebaceous gland anomaly genetic sebaceous gland anomaly MONDO:0021032 A form of herpes zoster infection characterized by dermatitis of the skin of the eyelid due to reactivation of latent virus associated with the ophthalmic branch of the trigeminal nerve. herpes zoster dermatitis of eyelid herpes zoster dermatitis of eyelids herpes zoster with dermatitis of eyelid Herpes Zoster Dermatitis of Eyelid Herpes zoster dermatitis of eyelids Herpes zoster with dermatitis of eyelid herpes zoster with dermatitis of eyelid MONDO:0021033 Painful, localized rash caused by reactivation of latent varicella zoster virus residing in nerve cell bodies, with resulting infection of the skin in the region supplied by the affected nerve. herpes zoster dermatitis herpes zoster dermatitis MONDO:0021034 An instance of alopecia that is caused by a modification of the individual's genome. genetic alopecia genetic alopecia MONDO:0021035 APMR APMR1 alopecia-intellectual disability syndrome 1 alopecia-mental retardation syndrome 1 alopecia-intellectual disability syndrome 1 MONDO:0021036 A form of dry skin characterised by hair follicles plugged by scale. KP keratosis pilaris MONDO:0021038 A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. These tumors may occur in the soft tissues or the bones. Pain and the presence of a mass are the most common clinical symptoms. EFTs Ewing family of tumors Ewing sarcoma family of tumors Ewing sarcoma/peripheral PNET Ewing sarcoma/peripheral primitive neuroectodermal tumor Ewing's family of tumors Ewing's family of tumours Ewing's sarcoma/peripheral primitive neuroectodermal tumor tumors of Ewing's family tumors of the Ewing's family Ewing sarcoma/peripheral primitive neuroectodermal tumor MONDO:0021039 A spectrum of malignant tumors arising from the soft tissues, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms. extraosseous Ewing sarcoma/peripheral primitive neuroectodermal tumor extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor extraosseous Ewings sarcoma-primitive neuroepithelial tumor extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor extraosseous Ewing's tumor extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor MONDO:0021040 A benign or malignant neoplasm involving the pancreas. neoplasm of pancreas neoplasm of the pancreas pancreas neoplasm pancreas neoplasm (disease) pancreas tumor pancreatic neoplasm pancreatic tumor tumor of pancreas tumor of the pancreas pancreas pancreatic neoplasm MONDO:0021041 A localized neoplasm of probable fibroblastic derivation, that arises from the pleura. It is characterized by the presence of round to spindle-shaped cells, hylanized stroma formation, thin-walled branching blood vessels, and thin bands of collagen. fibroma of pleura fibroma of the pleura localized fibrous mesothelioma of pleura localized fibrous mesothelioma of the pleura pleura solitary fibrous tumor pleural Submesothelial fibroma pleural cavity solitary fibrous tumor pleural fibroma pleural solitary fibrous tumor solitary fibrous tumor of pleura solitary fibrous tumor of the pleura pleural solitary fibrous tumor MONDO:0021042 A benign or malignant brain and spinal cord tumor that arises from glial cells (astrocytes, oligodendrocytes, ependymal cells). Tumors that arise from astrocytes are called astrocytic tumors or astrocytomas. Tumors that arise from oligodendrocytes are called oligodendroglial tumors. Tumors that arise from ependymal cells are called ependymomas. glial neoplasm glial tumor glioma neoplasm of neuroglia neoplasm of the neuroglia neuroglial neoplasm neuroglial tumor tumor of neuroglia tumor of the neuroglia glioma MONDO:0021043 A neoplasm composed of at least two distinct cellular populations. mixed neoplasm mixed tumor mixed neoplasm MONDO:0021045 A benign, borderline, or malignant neoplasm characterized by the presence of an epithelial and a fibrous component. Representative examples are fibroadenoma and phyllodes tumor. fibroepithelial neoplasm fibroepithelial tumor fibroepithelial neoplasm MONDO:0021046 A benign or malignant biphasic neoplasm that arises from the breast parenchyma. It is characterized by the presence of an epithelial and a mesenchymal (stromal) component. The typical examples are fibroadenoma and phyllodes tumor. breast fibroepithelial neoplasm breast fibroepithelial tumor BFN breast fibroepithelial neoplasms breast fibroepithelial neoplasm MONDO:0021047 A benign, malignant, or borderline circumscribed biphasic neoplasm that arises from the breast. It usually affects middle-aged women. It is characterized by the presence of a double layer of epithelial cells that are arranged in clefts, surrounded by a spindle cell mesenchymal (stromal) component. breast cystosarcoma phyllodes breast phyllodes neoplasm breast phyllodes tumor cystosarcoma phyllodes of breast cystosarcoma phyllodes of the breast cystosarcoma phylloides - breast cystosarcoma phylloides of the breast phyllodes breast neoplasm phyllodes breast tumor phyllodes neoplasm of breast phyllodes neoplasm of the breast phyllodes tumor of breast phyllodes tumor of the breast breast phyllodes tumor MONDO:0021048 A localized mast cell neoplasm without metastatic potential. MAST cell tumor, benign benign mastocytoma mastocytoma, benign benign mastocytoma MONDO:0021049 A benign or malignant neoplasm that affects the vulva. Representative examples include Bartholin gland adenoma, vulvar nodular hidradenoma, vulvar carcinoma, and vulvar melanoma. mammalian vulva neoplasm mammalian vulva neoplasm (disease) mammalian vulva tumor neoplasm of mammalian vulva neoplasm of the vulva neoplasm of vulva tumor of mammalian vulva tumor of the vulva tumor of vulva vulva neoplasm vulva tumor vulval neoplasm vulvar neoplasm vulvar tumor vulvar neoplasm MONDO:0021050 A benign or malignant neoplasm affecting the vagina. Representative examples of benign neoplasms include squamous papilloma and melanocytic nevus. Representative examples of malignant neoplasms include carcinoma, melanoma, and sarcoma. neoplasm of the vagina neoplasm of vagina tumor of the vagina tumor of vagina vagina neoplasm vagina neoplasm (disease) vagina tumor vaginal neoplasm vaginal tumor Editor note: we place the oncotree class here for consistency of placing of child classes, although it represents both vagina and vulva vaginal neoplasm MONDO:0021052 A benign or malignant, usually non-functioning, extra-adrenal paraganglioma that arises from paraganglia located along the parasympathetic nerves. Representative examples include aorticopulmonary, carotid body, jugulotympanic, and mediastinal paragangliomas. paraganglioma of parasympathetic nervous system parasympathetic Extra-adrenal paraganglioma parasympathetic Paraganglionic neoplasm parasympathetic nervous system paraganglioma parasympathetic paraganglioma parasympathetic paraganglioma MONDO:0021053 A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia adjacent to or in the bifurcation of the common carotid artery. Most patients present with a slow growing, painless mass in the neck. carotid body paraganglioma paraganglioma of carotid body carotid body chemodectoma carotid body tumor chemodectoma chemodectoma, undetermined paraganglioma of the carotid body tumor of carotid body tumor of the carotid body carotid body paraganglioma MONDO:0021054 A sarcoma that arises from the bone. Representative examples are osteosarcoma and chondrosarcoma. bone sarcoma osseous sarcoma sarcoma of bone sarcoma of the bone skeletal sarcoma bone sarcoma MONDO:0021055 Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life. APC - adenomatous polyposis coli FAP adenomatous polyposis coli adenomatous polyposis of the colon classic FAP classic familial adenomatous polyposis colorectal adenomatous polyposis familial adenomatous polyposis familial adenomatous polyposis coli familial adenomatous polyposis syndrome familial polyposis familial polyposis coli hereditary adenomatous polyposis coli polyposis coli FPC familial adenomatous polyposis of the colon familial multiple polyposis hereditary polyposis coli classic familial adenomatous polyposis MONDO:0021056 Any attenuated familial adenomatous polyposis in which the cause of the disease is a mutation in the APC gene. https://github.com/monarch-initiative/mondo/issues/4521 adenomatous polyposis coli APC attenuated familial adenomatous polyposis FAP1 adenoma, periampullary, somatic attenuated familial adenomatous polyposis caused by mutation in APC familial adenomatous polyposis 1 Gardner syndrome adenomatous polyposis coli, attenuated adenomatous polyposis of the colon brain tumor-polyposis syndrome 2 familial adenomatous polyposis, attenuated familial polyposis of the colon polyposis, adenomatous intestinal familial adenomatous polyposis 1 MONDO:0021057 An inherited diseases haracterized by the development of adenomas in the rectum and colon; classified into classic FAP and attenuated FAP. classic or attenuated FAP classic or attenuated familial adenomatous polyposis classic or attenuated familial adenomatous polyposis MONDO:0021058 A broad classification for disorders in which the development of neoplasms typically occur in association with a characteristic set of signs or symptoms. These disorders may be inherited or acquired. cancer-related syndrome neoplastic syndrome tumor syndrome neoplastic syndrome MONDO:0021060 Developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction. RASopathy Ras protein signal transduction disease disorder of Ras protein signal transduction RASopathy MONDO:0021061 A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist. Recklinghausen's neurofibromatosis acoustic neurofibromatosis central Neurofibromatosis neurofibromatosis neurofibromatosis syndrome peripheral Neurofibromatosis type IV neurofibromatosis of riccardi von Reklinghausen disease neurofibromatosis type 2 neurofibromatosis type 4 neurofibromatosis type IV neurofibromatosis MONDO:0021063 A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma. cancer of colon colon cancer colon neoplasm, malignant colon tumor, malignant malignant colon neoplasm malignant colon tumor malignant colonic neoplasm malignant colonic tumor malignant neoplasm of colon malignant neoplasm of the colon malignant tumor of colon malignant tumor of the colon malignant colon neoplasm MONDO:0021064 A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the base of the skull and middle ear. glomus jugulare neoplasm glomus jugulare tumor basicranium parasympathetic paraganglioma jugular paraganglioma jugulotympanic paraganglioma neoplasm of glomus jugulare neoplasm of the glomus jugulare parasympathetic paraganglioma of basicranium tumor of glomus jugulare tumor of the glomus jugulare Glomus tumor Paraganglioma - glomus jugulare jugulotympanic paraganglioma MONDO:0021065 A benign or malignant neoplasm that involves the serous membrane that lines the lungs and thoracic cavity. Most pleural neoplasms are metastatic. Diffuse malignant mesothelioma is the most common primary malignant neoplasm of the pleura. neoplasm of pleura neoplasm of pleural cavity neoplasm of the pleura pleura neoplasm pleura neoplasm (disease) pleura tumor pleural cavity neoplasm (disease) pleural cavity tumor pleural neoplasm pleural tumor tumor of pleura tumor of the pleura pleural neoplasm MONDO:0021066 A benign or malignant, primary or metastatic neoplasm involving the urinary system. --2003 neoplasm of renal system neoplasm of the urinary system neoplasm of the urinary tract neoplasm of urinary system neoplasm of urinary tract renal system neoplasm renal system neoplasm (disease) renal system tumor tumor of renal system tumor of the urinary system tumor of the urinary tract tumor of urinary system tumor of urinary tract urinary system neoplasm urinary system tumor urinary tract neoplasm urinary tract tumor Editor note: note the ONCOTREE class is more general than just bladder urinary system neoplasm MONDO:0021067 A germ cell tumor that arises from the mediastinum. Representative examples include seminoma, embryonal carcinoma, yolk sac tumor, teratoma, and mixed germ cell tumor. germ cell neoplasm of mediastinum germ cell neoplasm of the mediastinum germ cell tumor of mediastinum germ cell tumor of the mediastinum mediastinal germ cell neoplasm mediastinal germ cell tumor mediastinum germ cell tumor thymic germ cell tumor mediastinal germ cell tumor MONDO:0021068 A benign, borderline, or malignant neoplasm involving the ovary. neoplasm of ovary neoplasm of the ovary ovarian neoplasm ovarian tumor ovarian tumors ovary neoplasm ovary neoplasm (disease) ovary tumor tumor of ovary tumor of the ovary ovarian neoplasm MONDO:0021069 A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma. endocrine neoplasm Endocrine tumor cancer of endocrine gland endocrine cancer endocrine gland cancer endocrine neoplasm, malignant malignant endocrine gland neoplasm malignant endocrine gland tumor malignant endocrine neoplasm malignant endocrine tumor malignant neoplasm of endocrine gland malignant neoplasm of the endocrine gland malignant tumor of endocrine gland malignant tumor of the endocrine gland malignant tumour of endocrine gland neoplasm of endocrine system malignant endocrine neoplasm MONDO:0021070 A carcinoma that arises from the sublingual gland. Representative examples include cystadenocarcinoma and mucoepidermoid carcinoma. sublingual gland cancer carcinoma of sublingual gland carcinoma of the sublingual gland sublingual gland carcinoma sublingual gland carcinoma MONDO:0021071 A benign or malignant neoplasm involving the larynx. laryngeal neoplasm laryngeal tumor larynx neoplasm larynx neoplasm (disease) larynx tumor neoplasm of larynx neoplasm of the larynx tumor of larynx tumor of the larynx laryngeal neoplasm MONDO:0021072 A benign or malignant paraganglioma arising from the chromaffin cells of the paraganglia that are located along the sympathetic nerves. It includes extra-adrenal paragangliomas and paragangliomas that arise from the adrenal medulla. The latter are commonly referred to as pheochromocytomas. Representative examples of extra-adrenal sympathetic paragangliomas include the bladder, and superior and inferior paraaortic paragangliomas. Clinical signs are related to the secretion of catecholamines resulting in hypertension. Chromaffinoma chromaffin neoplasm chromaffin tumor paraganglioma of sympathetic nervous system sympathetic Paraganglionic neoplasm sympathetic nervous system paraganglioma sympathetic paraganglioma sympathetic paraganglioma MONDO:0021073 A classification for rare disorders of diverse organ systems (endocrine, neuromuscular, gastrointestinal, renal, dermatologic, rheumatologic, hematologic) that are affected by substances secreted by a distant neoplasm but not by the action of the neoplasm itself metastasizing to that organ or tissue. Less than 1 % of neoplasms are associated with these syndromes. An immune-mediated response to neoplasm-elaborated proteins may be the cause of these syndromes. Additionally, their manifestation may signal the presence of an occult neoplasm, potentially at an earlier stage of disease thereby leading to a better clinical outcome. Constitutional signs may include fever, night sweats, anorexia and cachexia. Clinical course is usually progressive. Prognosis is variable depending on the effective treatment of the underlying neoplasm. paraneoplastic syndrome paraneoplastic syndrome MONDO:0021074 A pathological process with signs indicating it may become cancerous. Representative examples include leukoplakia, dysplastic nevus, actinic keratosis, xeroderma pigmentosum, and intraepithelial neoplasia. precancerous condition precancerous state premalignant condition premalignant state Editor note: check classification. Also consider changing def, NCIT defines as disease. Also consider a grouping for this and paraneoplastic syndrome precancerous condition MONDO:0021075 neoplastic polyp neoplastic polyp MONDO:0021076 A benign or malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue. exocrine pancreas neoplasm exocrine pancreas neoplasm (disease) exocrine pancreas tumor neoplasm of exocrine pancreas neoplasm of the exocrine pancreas pancreatic exocrine neoplasm pancreatic exocrine tumor tumor of exocrine pancreas tumor of the exocrine pancreas pancreatic exocrine neoplasm MONDO:0021077 A benign or malignant neoplasm that contains a single or multiple cystic spaces. Examples include cystadenoma, mucinous cystadenocarcinoma, and serous cystadenocarcinoma. cystic neoplasm cystic tumor cystic neoplasm MONDO:0021078 glandular papilloma glandular papilloma MONDO:0021079 A benign or malignant neoplasm arising during childhood. childhood neoplasm childhood neoplasm (disease) childhood tumor neoplasm (disease) of childhood pediatric neoplasm pediatric neoplasm (disease) pediatric tumor childhood neoplasm MONDO:0021080 A neoplasm arising from arteries or veins. blood vessel neoplasm blood vessel neoplasm (disease) blood vessel tumor neoplasm of blood vessel tumor of blood vessel blood vessel neoplasm MONDO:0021081 An autoimmune acute encephalitis caused by antibodies against the glutamate NMDA receptor. It usually affects females and in the majority of cases it is associated with the presence of a tumor, most commonly an ovarian teratoma. The presence of a tumor in patients with this form of encephalitis implies that the latter is a paraneoplastic syndrome. It is manifested with psychiatric symptoms and epileptic seizures. It is a potentially lethal disorder; however, it is usually reversible with the prompt removal of the tumor. anti-NMDA receptor encephalitis anti-NMDA receptor encephalitis MONDO:0021082 A neoplasm involving a Meckel's diverticulum. Meckel's diverticulum neoplasm Meckel's diverticulum neoplasm (disease) Meckel's diverticulum tumor neoplasm of Meckel's diverticulum tumor of Meckel's diverticulum Meckel diverticulum neoplasm MONDO:0021083 Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the KIF21A gene. https://github.com/monarch-initiative/mondo/issues/4069 CFEOM1 KIF21A congenital fibrosis of extraocular muscles congenital fibrosis of extraocular muscles caused by mutation in KIF21A fibrosis of extraocular muscles, congenital, 1 Feom1 locus blepharoptosis with absent eye movements fibrosis of extraocular muscles, congenital, 3B ophthalmoplegia, congenital congenital fibrosis of extraocular muscles type 1 MONDO:0021084 Any impairment to the vision. https://github.com/monarch-initiative/mondo/issues/4614 disorder of visual system visual system disorder disorder of vision vision disorder visual disorder visual Field disorder vision disorder MONDO:0021085 A benign or malignant neoplasm involving the stomach. gastric neoplasm gastric tumor neoplasm of stomach neoplasm of the stomach stomach neoplasm stomach neoplasm (disease) stomach tumor tumor of stomach tumor of the stomach gastric neoplasm MONDO:0021086 A benign or malignant neoplasm that affects the upper or lower gingiva. gingiva neoplasm gingiva neoplasm (disease) gingiva tumor gingival neoplasm gingival tumor gum neoplasm gum tumor neoplasm of gingiva neoplasm of gum neoplasm of the gingiva neoplasm of the gum tumor of gingiva tumor of gum tumor of the gingiva tumor of the gum gingival neoplasm MONDO:0021088 A WHO grade III meningioma characterized by the predominance of a perivascular pseudopapillary pattern. papillary meningioma papillary meningioma MONDO:0021089 Malignant growth of cells in the peripheral nervous system (PNS)or Autonomic Nervous System (ANS), without specification as to location cancer of peripheral nervous system malignant PNS neoplasm malignant PNS tumor malignant neoplasm of PNS malignant neoplasm of peripheral nerve malignant neoplasm of peripheral nervous system malignant neoplasm of the PNS malignant neoplasm of the peripheral nerve malignant neoplasm of the peripheral nervous system malignant neoplasms, peripheral nerve malignant peripheral nerve neoplasm malignant peripheral nerve tumor malignant peripheral nervous system neoplasm malignant peripheral nervous system tumor malignant tumor of PNS malignant tumor of peripheral nerve malignant tumor of peripheral nervous system malignant tumor of the PNS malignant tumor of the peripheral nerve malignant tumor of the peripheral nervous system peripheral nervous system cancer peripheral nervous system neoplasms, malignant peripheral nervous system cancer MONDO:0021090 An invasive breast carcinoma characterized by the presence of cytoplasmic neutral lipids in the vast majority of the malignant cells. breast lipid-rich carcinoma lipid-rich breast carcinoma lipid secreting breast carcinoma lipid-rich breast carcinoma MONDO:0021091 A serous or mucinous benign or low malignant potential cystic epithelial neoplasm. It is characterized by the presence of glandular epithelial cells forming papillary structures. cystadenoma, papillary, benign papillary cystadenoma papillary cystadenoma MONDO:0021092 A benign or malignant neoplasm affecting the fallopian tube. Representative examples of benign neoplasms include papilloma, adenofibroma, and leiomyoma. Representative examples of malignant neoplasms include carcinoma, carcinosarcoma, and adenosarcoma. fallopian tube neoplasm fallopian tube neoplasm (disease) fallopian tube tumor neoplasm of fallopian tube neoplasm of the fallopian tube tumor of fallopian tube tumor of the fallopian tube fallopian tube neoplasm MONDO:0021093 Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT122 gene. https://github.com/monarch-initiative/mondo/issues/4948 Sensenbrenner syndrome CED1 IFT122 cranioectodermal dysplasia cranioectodermal dysplasia 1 cranioectodermal dysplasia caused by mutation in IFT122 cranioectodermal dysplasia type 1 Levin syndrome 1 cranioectodermal dysplasia 1 MONDO:0021094 Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral. immuno-deficiency immunodeficiency immunodeficiency disorder immunodeficiency syndrome immunodeficiency disease MONDO:0021095 A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA. Editor note: TODO parkinsonian disorder MONDO:0021096 papillary epithelial neoplasm papillary epithelial neoplasm MONDO:0021097 A benign papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by benign epithelial and myoepithelial proliferations. Intraductal breast papillomas are classified as central, when they arise in large ducts, or peripheral, when they arise in the terminal ductal lobular units. breast papilloma duct papilloma of breast duct papilloma of the breast ductal breast papilloma intraductal breast papilloma intraductal papilloma of breast intraductal papilloma of the breast mammary duct papilloma papilloma of breast papilloma of the breast breast duct papilloma intraductal breast papilloma MONDO:0021098 Glandular or squamous cell neoplastic proliferations characterized by the formation of multiple papillary structures diffusely involving a specific anatomic site. papillomatosis papillomatosis MONDO:0021099 A neoplastic process characterized by the presence of multiple intraductal papillomas. duct papillomatosis intraductal papillomatosis intraductal papillomatosis MONDO:0021100 A benign or malignant neoplasm of the breast parenchyma. It can originate from the ducts, lobules or the breast adipose tissue. Breast neoplasms are much more common in females than males. breast neoplasm breast neoplasm (disease) breast tumor neoplasm of breast neoplasm of the breast neoplasm, breast tumor of breast tumor of the breast breast neoplasm MONDO:0021101 A neuroendocrine tumor arising from the wall of the appendix, producing glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns. L-cell glucagon-like peptide-producing neuroendocrine tumor of vermiform appendix appendix L-cell glucagon-like peptide-producing neuroendocrine tumor malignant appendiceal L-cell glucagon-like peptide producing tumor malignant appendiceal glucagonoma vermiform appendix L-cell glucagon-like peptide-producing neuroendocrine tumor appendiceal L-cell glucagon-like peptide producing tumor appendiceal L-cell glucagon-like peptide-producing NET appendiceal L-cell glucagon-like peptide-producing neuroendocrine tumor appendix L-cell NET appendix L-cell glucagon-like peptide-producing NET appendix L-cell glucagon-like peptide-producing neuroendocrine tumor MONDO:0021102 An unusual, biphasic benign or malignant neoplasm that arises from the prostate gland. It is characterized by the presence of an epithelial glandular component and a proliferating stroma. cystosarcoma phyllodes of prostate cystosarcoma phyllodes of the prostate phyllodes neoplasm of prostate phyllodes neoplasm of the prostate phyllodes tumor of prostate phyllodes tumor of the prostate prostate cystosarcoma phyllodes prostate gland phyllodes tumor prostate phyllodes neoplasm prostate phyllodes tumor malignant phyllodes tumor of prostate (subtype) prostate phyllodes tumor MONDO:0021104 Lipid infiltration of the hepatic parenchymal cells that is due to alcohol abuse. The fatty changes in the alcoholic fatty liver may be reversible, depending on the amounts of triglycerides accumulated. alcoholic Steatohepatitis alcoholic fatty liver alcoholic fatty liver disease MONDO:0021105 NAFLD1 fatty liver disease, nonalcoholic, susceptibility to, 1 liver disease, alcoholic, susceptibility to, 1 NAFLD1 MONDO:0021106 A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina. laminopathy MONDO:0021107 A sleep disorder characterized by a tendency for excessive sleepiness during the day which occurs even after adequate sleep in the nighttime. The persons who suffer from this condition experience fatigue and may fall asleep at inappropriate times during the day. narcolepsy paroxysmal sleep narcolepsy, without cataplexy narcolepsy MONDO:0021108 A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord. https://github.com/monarch-initiative/mondo/issues/5537 meningitis (disease) inflammation of meninx meningitis meningitis (disease) meninx inflammation meningitis MONDO:0021109 An endophytic lesion in the urinary tract which shares several morphologic features with urothelial papilloma. This lesion may recur after complete excision. Transitional cell carcinomas may arise within inverted urothelial papillomas. inverted papilloma of urinary tract inverted urothelial papilloma urinary tract inverted papilloma urothelium inverted papilloma IUP inverted urothelial papilloma MONDO:0021110 A benign epithelial neoplasm arising from the sweat glands. Representative examples include tubular apocrine adenoma, syringofibroadenoma, and hidradenoma. adenoma of sweat gland adenoma of the sweat gland adenoma, sweat gland, benign sweat gland adenoma sweat gland adenoma MONDO:0021111 A benign or malignant neoplasm that affects the ureter. neoplasm of the ureter neoplasm of ureter neoplasms of the ureter neoplasms of ureter tumor of the ureter tumor of ureter ureter neoplasm ureter neoplasm (disease) ureter tumor ureteral neoplasm ureteral tumor ureter neoplasm MONDO:0021112 A primary or metastatic malignant neoplasm affecting the scrotum. cancer of scrotum malignant neoplasm of scrotum malignant neoplasm of the scrotum malignant scrotal neoplasm malignant scrotal tumor malignant scrotum neoplasm malignant tumor of scrotum malignant tumor of the scrotum scrotum cancer scrotum cancer MONDO:0021113 The significant impairment of gas exchange within the lungs resulting in hypoxia, hypercarbia, or both, to the extent that organ tissue perfusion is severely compromised. Causes include chronic obstructive pulmonary disease, asthma, emphysema, acute respiratory distress syndrome, pneumonia, pulmonary edema, pneumothorax, and congestive heart failure. Treatment requires intubation and mechanical ventilation until the time the lungs recover sufficient function. failure, respiratory respiratory failure respiratory insufficiency/failure acute respiratory failure chronic respiratory failure acute and chronic respiratory failure acute-on-chronic respiratory failure respiratory failure MONDO:0021114 A benign or malignant neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma. Bartholin gland neoplasm Bartholin's gland neoplasm Bartholin's gland tumor major vestibular gland neoplasm major vestibular gland neoplasm (disease) major vestibular gland tumor neoplasm of Bartholin's gland neoplasm of major vestibular gland neoplasm of the Bartholin's gland tumor of Bartholin's gland tumor of major vestibular gland tumor of the Bartholin's gland Bartholin gland neoplasm MONDO:0021115 A biologic subset of breast carcinoma defined by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1. This subtype of breast cancer is associated with a good prognosis, although not as favorable as the luminal A subtype. Luminal B Luminal B breast cancer Luminal B breast carcinoma Luminal B estrogen receptor positive subtype of breast carcinoma Luminal B subtype of breast carcinoma luminal B breast carcinoma MONDO:0021116 A biologic subset of breast carcinoma defined by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3. This subtype of breast cancer is associated with a good prognosis. Luminal A Luminal A breast cancer Luminal A breast carcinoma Luminal A estrogen receptor positive subtype of breast carcinoma Luminal A subtype of breast carcinoma luminal A breast carcinoma MONDO:0021117 A benign or malignant, primary or metastatic neoplasm involving the lungs. Representative examples of benign neoplasms include adenoma, papilloma, chondroma, and endobronchial lipoma. Representative examples of malignant neoplasms include carcinoma, carcinoid tumor, sarcoma, and lymphoma. lung neoplasm lung neoplasm (disease) lung neoplasms lung tumor neoplasm of lung neoplasm of the lung tumor of lung tumor of the lung lung neoplasm, lung neoplasm, pulmonary neoplasms, lung neoplasms, pulmonary lung neoplasm MONDO:0021118 A benign or malignant neoplasm involving the small or large intestine. intestinal neoplasm intestinal neoplasms intestinal tumor intestinal tumors intestine growth intestine neoplasm intestine neoplasm (disease) intestine tumor neoplasm of intestinal tract neoplasm of intestine neoplasm of intestines neoplasm of the intestines tumor of intestine tumor of intestines tumor of the intestines bowel neoplasm intestinal benign neoplasm intestinal neoplasm MONDO:0021119 A hormone producing or non-producing endocrine neoplasm, not associated with a hormonal syndrome. endocrine-inactive tumor non-functioning endocrine neoplasm nonfunctional Endocrine neoplasm nonfunctioning tumor non-functioning endocrine neoplasm MONDO:0021120 A hormone producing endocrine neoplasm, associated with a hormonal syndrome. functioning endocrine neoplasm functioning tumor functioning endocrine neoplasm MONDO:0021121 A vascular proliferation characterized by the presence of prominent endothelial cells and the formation of vascular channels. Hemangioendotheliomas may display borderline or low grade characteristics. angioendothelioma hemangioendothelioma hemangioendothelioma https://rarediseases.info.nih.gov/diseases/6557/hemangioendothelioma MONDO:0021123 A spectrum of malignant tumors arising from the bone and characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms. Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone Ewing's sarcoma/peripheral primitive neuroectodermal tumor of bone bone tissue Ewing sarcoma/peripheral primitive neuroectodermal tumor Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone MONDO:0021124 Diminished or absent ability of a female to achieve conception. female infertility female reproductive system infertility female reproductive system infertility disorder infertility disorder of female reproductive system female sterility female sub-fertility female subfertility postpartum sterility sterility, female sterility, postpartum sub fertility, female sub-fertility, female subfertility, female female infertility MONDO:0021125 An attribute of a disease. disease qualifier modifier qualifier disease characteristic MONDO:0021126 An characteristic of a disease that varies depending on whether the disease appears as an isolated feature or whether the disease is a syndrome consisting of multiple features. syndromic or isolated MONDO:0021127 An characteristic of a disease in which the disease is not manifested as an isolated feature but has multiple distinct features. has a syndromic presentation MONDO:0021128 An characteristic of a disease in which the disease is manifested as an isolated feature. has an isolated presentation MONDO:0021129 Congenital or developmental anomaly in which the eyeballs are abnormally small. https://github.com/monarch-initiative/mondo/issues/4626 microphthalmia simple microphthalmos microphthalmos nanophthalmos microphthalmia MONDO:0021130 An inherited metabolic disease that is has its basis in the disruption of sphingolipid biosynthetic process. inborn error of sphingolipid biosynthetic process inborn sphingolipid biosynthetic process disorder rare inborn error of sphingolipid biosynthetic process disorder of sphingolipid biosynthesis MONDO:0021131 An ependymal tumor affecting the frontal lobe of the brain. ependymal tumor of frontal lobe frontal lobe ependymal tumor frontal lobe ependymal tumor MONDO:0021132 An overproduction of parathyroid hormone that is autonomous and often associated with chronic secondary hyperparathyroidism. tertiary hyperparathyroidism tertiary hyperparathyroidism MONDO:0021133 An acquired coagulation disorder due to reduced levels and activity of factor XIII. aFXIII acquired factor XIII deficiency acquired factor XIII deficiency MONDO:0021134 An bleeding disorder with a decreased antigen and/or activity of factor X (FX) that is acquired. Acquired factor X deficiency is a rare disorder, commonly associated with a preceding viral illness and a circulating FX inhibitor. Although multiple treatment modalities have been described with variable success, in many cases, it is a self-limited condition. aFX acquired factor X deficiency acquired factor X deficiency MONDO:0021135 https://github.com/monarch-initiative/mondo/issues/254 rare or common MONDO:0021136 A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000. A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 persons at any given time. Here we take the European definition to be consistent with Orphanet. rare (European definition) rare MONDO:0021137 common not rare MONDO:0021138 Malignant neoplasms that either originate from the bone marrow (e.g. myeloid leukemias) or involve the bone marrow as secondary-metastatic tumors (e.g. metastatic carcinomas to the bone marrow). --2003 bone marrow cancer cancer of bone marrow malignant bone marrow neoplasm malignant bone marrow tumor malignant neoplasm of bone marrow bone marrow cancer MONDO:0021139 congenital or acquired MONDO:0021140 A characteristic of a disease in which the disease is present at birth, regardless of cause. https://github.com/monarch-initiative/mondo/issues/4069 inborn congenital MONDO:0021141 not genetically inherited acquired MONDO:0021142 The acquired form of RMD. Although RMD most often is reported with autosomal dominant inheritance, some sporadic cases are found, and an association with other diseases such as myasthenia gravis has also been reported. acquired rippling muscle disease sporadic rippling muscle disease acquired rippling muscle disease MONDO:0021143 melanocytic neoplasm melanomas and nevi melanocytic neoplasm MONDO:0021144 A benign, borderline, or malignant epithelial tumor of the ovary that is characterized by a predominance of clear and hobnail cells. ovarian clear cell neoplasm ovarian clear cell tumor clear cell ovarian cancer ovarian clear cell tumor MONDO:0021146 Various conditions with the symptom of headache. Headache disorders are classified into major groups, such as primary headache disorders (based on characteristics of their headache symptoms) and secondary headache disorders (based on their etiologies). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1) headache disorder cephalgia syndrome cephalgia syndromes chronic daily headache chronic daily headaches chronic headache chronic headaches daily headache, chronic daily headaches, chronic headache syndrome headache syndromes headache, chronic headache, chronic daily headache, intractable headaches, chronic headaches, chronic daily headaches, intractable intractable headache intractable headaches syndrome, headache headache disorder MONDO:0021147 Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development. disorder of development or morphogenesis MONDO:0021148 A benign, precancerous, or malignant neoplasm that affects the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, ovarian carcinoma, cervical carcinoma, and endometrial carcinoma. female reproductive organ neoplasm (disease) female reproductive organ tumor female reproductive system neoplasm female reproductive system neoplasm (disease) female reproductive system tumor gynecologic neoplasm gynecologic tumor neoplasm of female reproductive organ neoplasm of female reproductive system neoplasm of the female reproductive system tumor of female reproductive system tumor of the female reproductive system female reproductive system neoplasm MONDO:0021149 genetic vs non-genetic etiology MONDO:0021151 non-genomic non-genetic MONDO:0021152 A characteristic of a disease in which the cause of the disease is a genetic problem inherited from either or both parents. constitutitional genetic familial genetic hereditary inherited genetic inherited MONDO:0021154 A disease that involves the dermis. dermis disease dermis disease or disorder disease of dermis disease or disorder of dermis disorder of dermis other dermis disorder dermis disorder MONDO:0021155 X-linked form of cone-rod dystrophy. cone-rod dystrophy, X-linked X-linked cone-rod dystrophy MONDO:0021156 Inflammation of the pituitary gland. gland, pituitary hypophysis hypophysis cerebri hypophysitides inflammation of pituitary gland nervous system, pituitary pituitary pituitary gland pituitary gland inflammation Editor note: TODO - add all subtypes; Granulomatous hypophysitis is one of five types of inflammatory hypophysitis, which are (lymphocytic, granulomatous, xanthomatous, xanthogranulomatous, and necrotizing) https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494403/ hypophysitis MONDO:0021157 gonorrhea of cervix gonorrhea of uterine cervix gonococcal cervicitis MONDO:0021158 gonococcal epididymo-orchitis MONDO:0021159 An salpingitis caused by infection with Neisseria gonorrhoeae. Neisseria gonorrhoeae caused salpingitis Neisseria gonorrhoeae salpingitis gonococcal salpingitis MONDO:0021160 An cystitis caused by infection with Neisseria gonorrhoeae. Neisseria gonorrhoeae caused cystitis Neisseria gonorrhoeae cystitis gonococcal cystitis MONDO:0021161 An prostatitis (disease) caused by infection with Neisseria gonorrhoeae. Neisseria gonorrhoeae caused prostatitis (disease) Neisseria gonorrhoeae prostatitis (disease) gonococcal prostatitis MONDO:0021162 https://github.com/monarch-initiative/mondo/issues/5166 acquired carotenemia hypercarotinemia carotenemia MONDO:0021163 A benign or malignant neoplasm affecting the kidney. Representative examples of benign renal neoplasms include fibroma, lipoma, oncocytoma, and juxtaglomerular cell tumor. Representative examples of malignant renal neoplasms include renal cell carcinoma, renal pelvis carcinoma, Wilms tumor, rhabdoid tumor, sarcoma, and lymphoma. kidney neoplasm kidney neoplasm (disease) kidney tumor neoplasm of kidney neoplasm of the kidney renal neoplasm renal tumor renal tumors tumor of kidney tumor of the kidney kidney neoplasm MONDO:0021164 An inflammatory disease involving a pathogenic inflammatory response in the prepuce of penis. inflammation of prepuce of penis prepuce of penis inflammation posthitis MONDO:0021165 A malignant neoplasm composed of large cells with large nuclei, prominent nucleoli, and abundant pale cytoplasm (Paget cells). Paget cell neoplasms include Paget disease of the nipple and extramammary Paget disease which may affect the vulva, penis, anus, skin and scrotum. Paget cell neoplasm Paget disease Paget's cell neoplasm Paget's disease Paget disease MONDO:0021166 A disease involving a pathogenic inflammatory response in the anatomical structure. anatomical structure inflammation inflammation of anatomical structure inflammatory disease inflammatory disorder inflammatory disease MONDO:0021167 An inflammatory disease involving a pathogenic inflammatory response in the muscle tissue. inflammation of muscle tissue inflammatory disorder of muscle inflammatory disorder of muscle (disorder) muscle tissue inflammation myositis MONDO:0021168 A rare benign slow growing adipose tissue tumor, characterized by the presence of polygonal brown fat cells with multivacuolated and/or granular cytoplasm. The tumor is usually painless and is most often seen in young adults. Brown fat neoplasm Brown fat tumor fetal fat cell lipoma hibernoma hibernoma, benign hibernoma MONDO:0021169 A hemangioma characterized by the presence of epithelioid endothelial cells. epithelioid haemangioma epithelioid hemangioma histiocytoid hemangioma epithelioid hemangioma MONDO:0021171 Classic form of Timothy syndrome, includes all features of generic. https://github.com/monarch-initiative/mondo/issues/4746 Timothy syndrome type 1 (disorder) Timothy syndrome, classic type MONDO:0021172 Atypical form of Timothy syndrome, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death. https://github.com/monarch-initiative/mondo/issues/4746 ATS Atypical LQT8 Timothy syndrome type 2 (disorder) atypical Timothy syndrome Timothy syndrome, atypical type MONDO:0021175 Infection of the vulva and the vagina caused by herpes simplex virus. herpetic vulvovaginitis Herpetic Vulvovaginitis Herpetic vulvovaginitis herpetic vulvovaginitis MONDO:0021176 Autoimmune hepatitis characterized by the presence of anti-liver kidney microsomal antibody type 1 (anti-LKM1) and/or anti-liver cytosol type 1 (anti-LC1) autoantibodies. autoimmune hepatitis type 2 type 2 AIH autoimmune hepatitis type 2 MONDO:0021177 Autoimmune hepatitis characterized by the presence of antibodies to soluble liver or liver-pancreas antigens. autoimmune hepatitis type 3 autoimmune hepatitis type 3 MONDO:0021178 Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity. injury trauma traumatic injury wound injury MONDO:0021179 Disorders caused by imbalances in the protein homeostasis network - synthesis, folding, and transport of proteins; post-translational modifications; and degradation or clearance of misfolded proteins. Proteostasis deficiency Proteostasis dysfunction Proteostasis dysfunctions deficiencies, Proteostasis deficiency, Proteostasis dysfunction, Proteostasis dysfunctions, Proteostasis Misfolding disease, Protein Misfolding diseases, Protein Misfolding disorder, Protein Misfolding disorders, Protein Protein Misfolding disease Protein Misfolding diseases Protein Misfolding disorder Protein Misfolding disorders Protein folding disease Protein folding diseases Protein folding disorder Protein folding disorders disease, Protein Misfolding disease, Protein folding diseases, Protein Misfolding diseases, Protein folding disorder, Protein Misfolding disorder, Protein folding disorders, Protein Misfolding disorders, Protein folding folding disease, Protein folding diseases, Protein folding disorder, Protein folding disorders, Protein proteinopathy proteopathic disease proteopathy proteostasis deficiencies MONDO:0021180 Acquired xanthinuria is generally iatrogenic. Allopurinol treatment, administered to block XOR and prevent uric acid overproduction, leads to the accumulation of xanthine. Rarely, in the setting of aggressive chemotherapy with rapid tumor lysis or in patients with HPRT deficiency on allopurinol therapy, complications of renal failure can develop from xanthine crystal nephropathy. acquired xanthinuria acquired xanthinuria MONDO:0021181 Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation. coagulation disorder, hereditary coagulation disorder, inherited coagulation disorders, hereditary coagulation disorders, inherited hereditary blood coagulation disease hereditary blood coagulation disorders hereditary coagulation disorder hereditary coagulation disorders inherited blood coagulation disorders inherited coagulation disorder inherited coagulation disorders rare genetic coagulation disorder inherited blood coagulation disease inherited blood coagulation disorder MONDO:0021183 HTLV-2 infection HTLV II INFECT HTLV-II Infection HTLV-II Infections HTLV-II infection Human T lymphotropic Virus 2 Infection Human T lymphotropic Virus 2 Infections Human T-lymphotropic Virus 2 Infection Human T-lymphotropic Virus 2 Infections Human T-lymphotropic virus 2 infection INFECT HTLV II Infection, HTLV-II Infections, HTLV II Infections, HTLV-II HTLV-2 infection MONDO:0021184 Infections caused by the HTLV or BLV deltaretroviruses. They include human T-cell leukemia-lymphoma (LEUKEMIA-LYMPHOMA, T-CELL, ACUTE, HTLV-I-ASSOCIATED). BLV infection BLV infections Deltaretrovirus infection HTLV BLV infections HTLV infection HTLV infections HTLV-BLV infection HTLV-BLV infections infection, Deltaretrovirus infections, Deltaretrovirus deltaretrovirus infections MONDO:0021187 hyperlipidemia (disease) hyperlipidemia hyperlipidemia (disease) hyperlipemia hyperlipemias lipemia lipemias lipidemia lipidemias hyperlipidemia MONDO:0021189 A disease that has its basis in the disruption of intestinal motility. disorder of intestinal motility intestinal motility disease MONDO:0021190 A disease that has its basis in the disruption of DNA repair. https://github.com/monarch-initiative/mondo/issues/5666 DNA repair disorder deficiency of DNA repair disorder of DNA repair DNA Repairs, deficient DNA repair deficiency DNA repair deficiency disorders DNA repair, deficient DNA repair-deficiencies DNA repair-deficiency DNA repair-deficiency disorder Repairs, deficient DNA chromosome instability syndrome chromosome instability syndromes deficient DNA Repairs deficient DNA repair disorder, DNA repair-deficiency disorders, DNA repair-deficiency repair, deficient DNA syndrome, chromosome instability syndromes, chromosome instability DNA repair disease MONDO:0021192 A benign or malignant neoplasm arising from tooth-forming tissues. It occurs in the maxillofacial skeleton or the gingiva. Benign tumors are slow growing and are not associated with specific clinical symptoms. Pain is absent or slight. Malignant tumors are usually associated with rapid swelling and pain. calcareous tooth neoplasm calcareous tooth neoplasm (disease) calcareous tooth tumor neoplasm of calcareous tooth odontogenic neoplasm odontogenic tumor tumor of calcareous tooth odontogenic neoplasm MONDO:0021193 A neoplasm of the nervous system that arises from the neuroepithelial tissues. Representative examples include astrocytic tumors, oligodendroglial tumors, ependymal tumors, and primitive neuroectodermal tumors. neoplasm of neuroepithelial tissue neoplasm of neuroepithelium neoplasm of the neuroepithelium neuroepithelial neoplasm neuroepithelial neoplasms neuroepithelial tissue neoplasm neuroepithelial tissue tumor neuroepithelial tumor neuroepithelial tumors tumor of neuroepithelial tissue tumor of neuroepithelium tumor of the neuroepithelium primary neuroepithelial tumor Editor note consider adding grouping class for Neuroepithelial, Perineurial, and Schwann Cell Neoplasm neuroepithelial neoplasm MONDO:0021201 An inflammatory process affecting the skin, caused by bacteria, viruses, parasites, or fungi. Examples of bacterial infection include carbuncles, furuncles, impetigo, erysipelas, and abscesses. Examples of viral infection include shingles, warts, molluscum contagiosum, and pityriasis rosea. Examples of parasitic infection include scabies and lice. Examples of fungal infection include athlete's foot, yeast infection, and ringworm. skin infection skin infection MONDO:0021202 A otitis media (disease) with a basis in a pathological type I hypersensitivity reaction. allergic form of otitis media (disease) allergic otitis media (disease) allergic otitis media MONDO:0021203 SOM secretory otitis media otitis media with effusion serous otitis media MONDO:0021204 Chronic form of otitis media (disease). chronic otitis media (disease) otitis media (disease), chronic chronic otitis media MONDO:0021205 A disease that involves the ear. Ear disease Ear disorder disease of ear disease or disorder of ear disorder of ear ear disease ear disease or disorder disorder of ear MONDO:0021206 Chronic form of non-suppurative otitis media. non-suppurative otitis media, chronic chronic non-suppurative otitis media MONDO:0021207 An Crohn disease involving a pathogenic inflammatory response in the jejunum. Crohn jejunitis MONDO:0021208 endocrine alopecia MONDO:0021209 A neoplasm (disease) that involves the heart. Cardiac neoplasm Cardiac neoplasms Cardiac tumor heart neoplasm (disease) heart tumor neoplasm of heart neoplasm of the heart tumor of heart tumor of the heart Intracavitary tumors myocardial tumors (rhabdomyomas and fibromas) primary cardiac tumors, childhood heart neoplasm MONDO:0021210 A neoplasm (disease) that involves the trachea. neoplasm of the trachea neoplasm of trachea trachea neoplasm (disease) trachea tumor tracheal neoplasm tracheal tumor tumor of the trachea tumor of trachea trachea neoplasm MONDO:0021211 A neoplasm (disease) that involves the brain. brain neoplasm (disease) brain neoplasms brain tumor neoplasm of brain neoplasm of the brain tumor of brain tumor of the Brain brain neoplasm MONDO:0021218 A neoplasm (disease) that involves the placenta. neoplasm of placenta neoplasm of the placenta placenta neoplasm (disease) placenta neoplasms placenta tumor placenta tumors placental neoplasm placental tumor placental tumors tumor of placenta tumor of the placenta trophoblastic tumor placental site placenta neoplasm MONDO:0021220 A neoplasm (disease) that involves the eye. eye neoplasm (disease) eye tumor eyeball of camera-type eye neoplasm eyeball of camera-type eye tumor neoplasm of eye neoplasm of eyeball of camera-type eye neoplasm of the eye ocular neoplasm ocular tumor tumor of eye tumor of eyeball of camera-type eye tumor of the eye eye neoplasm MONDO:0021221 A neoplasm (disease) that involves the vestibulocochlear nerve. Vestibuloacoustic nerve neoplasms acoustic nerve neoplasm acoustic nerve tumor cranial nerve eight neoplasms eighth cranial nerve neoplasm eighth cranial nerve neoplasms eighth cranial nerve tumor neoplasm of acoustic nerve neoplasm of eighth cranial nerve neoplasm of the acoustic nerve neoplasm of the eighth cranial nerve neoplasm of the vestibulocochlear nerve neoplasm of vestibulocochlear nerve tumor of acoustic nerve tumor of eighth cranial nerve tumor of the acoustic nerve tumor of the eighth cranial nerve tumor of the vestibulocochlear nerve tumor of vestibulocochlear nerve vestibulocochlear nerve neoplasm (disease) vestibulocochlear nerve neoplasms vestibulocochlear nerve tumor vestibulocochlear nerve neoplasm MONDO:0021222 A neoplasm (disease) that involves the lacrimal gland. lacrimal gland neoplasm (disease) lacrimal gland tumor neoplasm of lacrimal gland neoplasm of the lacrimal gland tumor of lacrimal gland tumor of the lacrimal gland lacrimal gland neoplasm MONDO:0021223 A neoplasm (disease) that involves the digestive system. GI neoplasm GI system neoplasm GI system tumor GI tumor digestive neoplasm digestive system neoplasm (disease) digestive system tumor digestive tumor gastrointestinal neoplasm gastrointestinal system neoplasm gastrointestinal system tumor gastrointestinal tumor neoplasm of GI system neoplasm of digestive system neoplasm of gastrointestinal system neoplasm of the GI system neoplasm of the digestive system neoplasm of the gastrointestinal system tumor of GI system tumor of digestive system tumor of gastrointestinal system tumor of the GI system tumor of the digestive system tumor of the gastrointestinal system digestive system neoplasm MONDO:0021224 A neoplasm (disease) that involves the iris. iris neoplasm (disease) iris tumor neoplasm of iris neoplasm of the iris tumor of iris tumor of the iris iris neoplasm MONDO:0021225 A neoplasm (disease) that involves the uvea. neoplasm of the uvea neoplasm of uvea tumor of the uvea tumor of uvea uvea neoplasm (disease) uvea tumor uveal neoplasm uveal tumor uvea neoplasm MONDO:0021227 A neoplasm (disease) that involves the adrenal gland. https://github.com/monarch-initiative/mondo/issues/5166 adrenal gland neoplasm (disease) adrenal gland tumor adrenal neoplasm adrenal neoplasms adrenal tumor neoplasm of adrenal gland neoplasm of the adrenal gland tumor of adrenal gland tumor of the adrenal gland ADRENALGLAND adrenal/paraganglial tumor adrenal gland neoplasm MONDO:0021228 A neoplasm (disease) that involves the brainstem. Brain stem neoplasm brain stem tumor brainstem neoplasm (disease) brainstem tumor neoplasm of brain stem neoplasm of brainstem neoplasm of the brain stem neoplasm of the brainstem tumor of brain stem tumor of brainstem tumor of the brain stem tumor of the brainstem brainstem neoplasm MONDO:0021229 A neoplasm (disease) that involves the ciliary body. ciliary body neoplasm (disease) ciliary body tumor neoplasm of ciliary body neoplasm of the ciliary body tumor of ciliary body tumor of the ciliary body ciliary body neoplasm MONDO:0021230 A neoplasm (disease) that involves the uterine cervix. Cervical neoplasm cervical tumor cervix neoplasm cervix tumor cervix uteri neoplasm cervix uteri tumor neoplasm of cervix neoplasm of cervix uteri neoplasm of the cervix neoplasm of the cervix uteri neoplasm of the uterine cervix neoplasm of uterine cervix tumor of cervix tumor of cervix uteri tumor of the cervix tumor of the cervix uteri tumor of the uterine cervix tumor of uterine cervix uterine cervix neoplasm (disease) uterine cervix tumor cervix uterine cervix neoplasm MONDO:0021231 A neoplasm (disease) that involves the retina. neoplasm of retina neoplasm of the retina retina neoplasm (disease) retina tumor retinal neoplasm retinal tumor tumor of retina tumor of the retina retina neoplasm MONDO:0021232 A neoplasm (disease) that involves the pineal body. neoplasm of pineal area neoplasm of pineal body neoplasm of pineal region neoplasm of the pineal area neoplasm of the pineal region pineal area neoplasm pineal area tumor pineal body neoplasm (disease) pineal body tumor pineal neoplasm pineal region neoplasm pineal region tumor pineal tumor pinealoma tumor of pineal area tumor of pineal body tumor of pineal region tumor of the pineal area tumor of the pineal region pineal body neoplasm MONDO:0021233 A neoplasm (disease) that involves the ear. Ear neoplasms Ear tumor ear neoplasm (disease) ear tumor neoplasm of Ear neoplasm of ear neoplasm of the Ear tumor of Ear tumor of ear tumor of the Ear ear neoplasm MONDO:0021234 A neoplasm (disease) that involves the spinal cord. neoplasm of spinal cord neoplasm of the spinal cord spinal cord neoplasm (disease) spinal cord tumor tumor of spinal cord tumor of the spinal cord spinal cord neoplasm MONDO:0021235 A neoplasm (disease) that involves the external ear. external Ear tumor external ear neoplasm (disease) external ear tumor neoplasm of external Ear neoplasm of external ear neoplasm of the external Ear tumor of external Ear tumor of external ear tumor of the external Ear external ear neoplasm MONDO:0021237 A neoplasm (disease) that involves the adrenal medulla. adrenal medulla neoplasm (disease) adrenal medulla tumor neoplasm of adrenal medulla tumor of adrenal medulla adrenal medulla neoplasm MONDO:0021238 A neoplasm (disease) that involves the cornea. cornea neoplasm (disease) cornea tumor corneal neoplasm corneal tumor neoplasm of cornea neoplasm of the cornea tumor of cornea tumor of the cornea cornea neoplasm MONDO:0021239 A neoplasm (disease) that involves the urethra. neoplasm of the urethra neoplasm of urethra neoplasms. urethra tumor of the urethra tumor of urethra tumors. urethra urethra neoplasm (disease) urethra neoplasms urethra tumor urethra tumors urethral neoplasm urethral neoplasms urethral tumor urethral tumors urethra neoplasm MONDO:0021240 A neoplasm (disease) that involves the tongue. neoplasm of the tongue neoplasm of tongue tongue neoplasm (disease) tongue tumor tumor of the tongue tumor of tongue tongue neoplasm MONDO:0021241 A neoplasm (disease) that involves the buccal mucosa. buccal mucosa neoplasm (disease) buccal mucosa tumor neoplasm of buccal mucosa neoplasm of the buccal mucosa tumor of buccal mucosa tumor of the buccal mucosa buccal mucosa neoplasm MONDO:0021242 A neoplasm (disease) that involves the sublingual gland. neoplasm of sublingual gland neoplasm of the sublingual gland sublingual gland neoplasm (disease) sublingual gland tumor tumor of sublingual gland tumor of the sublingual gland sublingual gland neoplasm MONDO:0021243 A neoplasm (disease) that involves the parotid gland. neoplasm of parotid neoplasm of parotid gland neoplasm of the parotid neoplasm of the parotid gland parotid gland neoplasm (disease) parotid gland tumor parotid neoplasm parotid tumor tumor of parotid tumor of parotid gland tumor of the parotid tumor of the parotid gland parotid gland neoplasm MONDO:0021244 A neoplasm (disease) that involves the submandibular gland. neoplasm of submandibular gland neoplasm of the submandibular gland submandibular gland neoplasm (disease) submandibular gland tumor tumor of submandibular gland tumor of the submandibular gland submandibular gland neoplasm MONDO:0021245 A neoplasm (disease) that involves the oral cavity. mouth neoplasm mouth tumor neoplasm of oral cavity oral cavity neoplasm (disease) oral cavity tumor tumor of oral cavity tumor of mouth oral cavity neoplasm MONDO:0021246 A neoplasm (disease) that involves the pharynx. neoplasm of pharynx neoplasm of the pharynx pharyngeal neoplasms pharyngeal tumor pharynx neoplasm (disease) pharynx tumor tumor of pharynx tumor of the pharynx pharynx neoplasm MONDO:0021248 A neoplasm (disease) that involves the nervous system. neoplasm of nervous system neoplasm of the nervous system nervous system neoplasm (disease) nervous system neoplasms nervous system tumor nervous system tumour tumor of nervous system tumor of the nervous system nervous system neoplasm MONDO:0021249 A neoplasm (disease) that involves the lip. lip neoplasm (disease) lip neoplasms lip tumor neoplasm of Lip neoplasm of lip neoplasm of the Lip tumor of Lip tumor of lip tumor of the Lip lip neoplasm MONDO:0021250 A neoplasm (disease) that involves the tonsil. neoplasm of the tonsil neoplasm of tonsil tonsil neoplasm (disease) tonsil tumor tonsillar neoplasm tonsillar neoplasms tonsillar tumor tumor of the tonsil tumor of tonsil tonsil neoplasm MONDO:0021251 A neoplasm (disease) that involves the endometrium. endometrial neoplasm endometrial tumor endometrium neoplasm (disease) endometrium tumor neoplasm of endometrium neoplasm of the endometrium tumor of endometrium tumor of the endometrium endometrium neoplasm MONDO:0021253 A neoplasm (disease) that involves the gall bladder. gall bladder neoplasm gall bladder neoplasm (disease) gall bladder tumor gallbladder tumor neoplasm of gall bladder neoplasm of gallbladder neoplasm of the gallbladder tumor of gall bladder tumor of gallbladder tumor of the gallbladder gallbladder neoplasm MONDO:0021254 A neoplasm (disease) that involves the body of uterus. body of uterus neoplasm body of uterus neoplasm (disease) body of uterus tumor corpus uteri tumor neoplasm of body of uterus neoplasm of corpus uteri neoplasm of the body of uterus neoplasm of the corpus uteri neoplasm of the uterine body neoplasm of the uterine corpus neoplasm of uterine body neoplasm of uterine corpus tumor of body of uterus tumor of corpus uteri tumor of the corpus uteri tumor of the uterine body tumor of the uterine corpus tumor of uterine body tumor of uterine corpus uterine body neoplasm uterine body tumor uterine corpus neoplasm uterine corpus tumor corpus uteri neoplasm MONDO:0021257 A neoplasm (disease) that involves the jugular body. https://github.com/monarch-initiative/mondo/issues/5166 2022-10-01 jugular body neoplasm jugular body neoplasm (disease) jugular body tumor neoplasm of jugular body tumor of jugular body Reason: duplicate. This OMIM ID seems to represent the whole series. This will be merged with MONDO_0000070 mycobacterium tuberculosis, susceptibility' glomus jugulare neoplasm MONDO:0021258 A neoplasm (disease) that involves the optic choroid. choroid tumor choroidal neoplasm choroidal tumor neoplasm of choroid neoplasm of optic choroid neoplasm of the choroid optic choroid neoplasm optic choroid neoplasm (disease) optic choroid tumor tumor of choroid tumor of optic choroid tumor of the choroid choroid neoplasm MONDO:0021259 A neoplasm (disease) that involves the prostate gland. neoplasm of prostate neoplasm of prostate gland neoplasm of the prostate prostate gland neoplasm prostate gland neoplasm (disease) prostate gland tumor prostate tumor tumor of prostate tumor of prostate gland tumor of the prostate nodular prostate prostate nodule prostate neoplasm MONDO:0021260 A disease or disorder that involves the sensory ganglion. disease of sensory ganglion disease or disorder of sensory ganglion disorder of sensory ganglion sensory ganglion disease sensory ganglion disease or disorder sensory ganglionopathy MONDO:0021271 A villous adenoma that involves the colon. colon villous adenoma colonic villous adenoma villous adenoma of the colon villous adenoma of colon MONDO:0021272 inherited orthostatic hypotension MONDO:0021273 A leiomyoma that involves the ciliary body. ciliary body leiomyoma leiomyoma of the ciliary body leiomyoma of ciliary body MONDO:0021275 A papilloma that involves the eyelid. eyelid papilloma papilloma of the eyelid papilloma of eyelid MONDO:0021276 A papilloma that involves the buccal mucosa. buccal mucosa papilloma papilloma of the buccal mucosa papilloma of buccal mucosa MONDO:0021279 A mucoepidermoid carcinoma that involves the submandibular gland. mucoepidermoid carcinoma of the submandibular gland submandibular gland mucoepidermoid carcinoma mucoepidermoid carcinoma of submandibular gland MONDO:0021280 A mucoepidermoid carcinoma that involves the parotid gland. mucoepidermoid carcinoma of parotid mucoepidermoid carcinoma of the parotid mucoepidermoid carcinoma of the parotid gland parotid gland mucoepidermoid carcinoma parotid mucoepidermoid carcinoma mucoepidermoid carcinoma of parotid gland MONDO:0021281 A cavernous hemangioma that involves the retina. cavernous angioma of retina cavernous angioma of the retina cavernous hemangioma of the retina retina cavernous angioma retina cavernous hemangioma retinal cavernous angioma retinal cavernous hemangioma cavernous hemangioma of retina MONDO:0021282 A malignant teratoma that involves the testis. immature teratoma of testis immature teratoma of the testis immature testicular teratoma malignant teratoma of the testis malignant testicular teratoma testicular immature teratoma testicular malignant teratoma testis malignant teratoma malignant teratoma of testis MONDO:0021283 A malignant teratoma that involves the mediastinum. immature malignant teratoma of mediastinum immature malignant teratoma of the mediastinum malignant mediastinal teratoma malignant teratoma of the mediastinum mediastinal immature malignant teratoma mediastinum malignant teratoma malignant teratoma of mediastinum MONDO:0021284 A in situ carcinoma that involves the ureter. carcinoma in situ of the ureter carcinoma in situ of ureter stage 0 ureter carcinoma stage 0is carcinoma of the ureter stage 0is carcinoma of ureter stage 0is ureter cancer stage 0is ureter cancer aJCC v7 stage 0is ureter carcinoma stage 0is ureter urothelial cancer stage 0is ureter urothelial carcinoma stage 0is ureter urothelial carcinoma aJCC v7 stage 0is ureteral carcinoma ureter cancer stage 0is ureter carcinoma in situ ureter in situ carcinoma ureteral carcinoma in situ carcinoma in situ of ureter MONDO:0021285 A in situ carcinoma that involves the urethra. carcinoma in situ of the urethra carcinoma in situ of urethra stage 0 urethra carcinoma stage 0is carcinoma of the urethra stage 0is carcinoma of urethra stage 0is urethra carcinoma stage 0is urethral cancer stage 0is urethral cancer aJCC v7 stage 0is urethral carcinoma urethra carcinoma in situ urethra in situ carcinoma urethral carcinoma in situ carcinoma in situ of urethra MONDO:0021287 A in situ carcinoma that involves the epiglottis. Epiglottis carcinoma in situ carcinoma in situ of epiglottis carcinoma in situ of the Epiglottis epiglottic carcinoma in situ epiglottis carcinoma in situ epiglottis in situ carcinoma stage 0 epiglottic carcinoma stage 0 epiglottic carcinoma aJCC v6 stage 0 epiglottic carcinoma aJCC v6, v7, and v8 stage 0 epiglottic carcinoma aJCC v7 stage 0 epiglottic carcinoma aJCC v8 stage 0 epiglottic throat cancer stage 0 epiglottis carcinoma carcinoma in situ of epiglottis MONDO:0021288 A in situ carcinoma that involves the hypopharynx. carcinoma in situ of hypopharynx carcinoma in situ of the hypopharynx hypopharyngeal carcinoma in situ hypopharynx carcinoma in situ hypopharynx in situ carcinoma stage 0 carcinoma of hypopharynx stage 0 carcinoma of the hypopharynx stage 0 hypopharyngeal cancer stage 0 hypopharyngeal carcinoma stage 0 hypopharyngeal carcinoma aJCC v6 stage 0 hypopharyngeal carcinoma aJCC v6, v7, and v8 stage 0 hypopharyngeal carcinoma aJCC v7 stage 0 hypopharyngeal carcinoma aJCC v8 stage 0 hypopharyngeal carcinoma in situ stage 0 hypopharyngeal throat cancer stage 0 hypopharynx carcinoma carcinoma in situ of hypopharynx MONDO:0021289 A in situ carcinoma that involves the caecum. caecum carcinoma in situ caecum in situ carcinoma carcinoma in situ of caecum carcinoma in situ of the cecum cecum carcinoma in situ cecum carcinoma in situ aJCC v6 cecum carcinoma in situ aJCC v7 stage 0 caecum carcinoma stage 0 cecum carcinoma carcinoma in situ of cecum MONDO:0021290 A in situ carcinoma that involves the vermiform appendix. carcinoma in situ of the appendix carcinoma in situ of vermiform appendix stage 0 appendix cancer stage 0 appendix carcinoma stage 0 appendix carcinoma aJCC v7 stage 0 vermiform appendix carcinoma vermiform appendix carcinoma in situ vermiform appendix in situ carcinoma carcinoma in situ of appendix MONDO:0021291 A in situ carcinoma that involves the fundus of stomach. carcinoma in situ of fundus of stomach carcinoma in situ of gastric fundus carcinoma in situ of the fundus of the stomach carcinoma in situ of the gastric fundus fundus of stomach carcinoma in situ fundus of stomach in situ carcinoma gastric fundus carcinoma in situ gastric fundus carcinoma in situ aJCC v6 and v7 stage 0 fundus of stomach carcinoma stage 0 gastric fundus carcinoma carcinoma in situ of fundus of stomach MONDO:0021292 A in situ carcinoma that involves the body of stomach. body of stomach carcinoma in situ body of stomach in situ carcinoma carcinoma in situ of body of stomach carcinoma in situ of the body of the stomach carcinoma in situ of the gastric body gastric body carcinoma in situ gastric body carcinoma in situ aJCC v6 and v7 stage 0 body of stomach carcinoma stage 0 gastric body carcinoma carcinoma in situ of gastric body MONDO:0021294 A in situ carcinoma that involves the cardia of stomach. carcinoma in situ of cardia of stomach carcinoma in situ of the cardia of the stomach carcinoma in situ of the gastric cardia cardia of stomach carcinoma in situ cardia of stomach in situ carcinoma gastric cardia carcinoma in situ gastric cardia carcinoma in situ aJCC v6 and v7 stage 0 cardia of stomach carcinoma stage 0 gastric cardia carcinoma carcinoma in situ of gastric cardia MONDO:0021296 A in situ carcinoma that involves the renal pelvis. carcinoma in situ of kidney pelvis carcinoma in situ of renal pelvis carcinoma in situ of the kidney pelvis carcinoma in situ of the renal pelvis kidney pelvis carcinoma in situ renal pelvis carcinoma in situ renal pelvis in situ carcinoma stage 0 renal pelvis carcinoma stage 0is carcinoma of kidney pelvis stage 0is carcinoma of renal pelvis stage 0is carcinoma of the kidney pelvis stage 0is carcinoma of the renal pelvis stage 0is kidney pelvis carcinoma stage 0is kidney renal pelvis urothelial cancer stage 0is renal pelvis cancer stage 0is renal pelvis cancer aJCC v7 stage 0is renal pelvis urothelial carcinoma stage 0is renal pelvis urothelial carcinoma aJCC v7 carcinoma in situ of renal pelvis MONDO:0021297 A in situ carcinoma that involves the nasopharynx. carcinoma in situ of nasopharynx carcinoma in situ of the nasopharynx nasopharyngeal carcinoma in situ nasopharynx carcinoma in situ nasopharynx in situ carcinoma stage 0 carcinoma of nasopharynx stage 0 carcinoma of the nasopharynx stage 0 nasopharyngeal cancer stage 0 nasopharyngeal carcinoma stage 0 nasopharyngeal carcinoma aJCC v6 stage 0 nasopharyngeal carcinoma aJCC v6, v7, and v8 stage 0 nasopharyngeal carcinoma aJCC v7 stage 0 nasopharyngeal carcinoma aJCC v8 stage 0 nasopharyngeal carcinoma in situ stage 0 nasopharyngeal throat cancer stage 0 nasopharynx carcinoma carcinoma in situ of nasopharynx MONDO:0021298 A in situ carcinoma that involves the oropharynx. carcinoma in situ of oropharynx carcinoma in situ of the oropharynx oropharyngeal cancer stage 0 oropharyngeal carcinoma in situ oropharynx carcinoma in situ oropharynx in situ carcinoma stage 0 carcinoma of oropharynx stage 0 carcinoma of the oropharynx stage 0 oropharyngeal cancer stage 0 oropharyngeal carcinoma stage 0 oropharyngeal carcinoma aJCC v6 stage 0 oropharyngeal carcinoma aJCC v6 and v7 stage 0 oropharyngeal carcinoma aJCC v7 stage 0 oropharyngeal carcinoma in situ stage 0 oropharyngeal throat cancer stage 0 oropharynx carcinoma carcinoma in situ of oropharynx MONDO:0021299 A in situ carcinoma that involves the extrahepatic bile duct. carcinoma in situ of extrahepatic bile duct carcinoma in situ of extrahepatic bile ducts carcinoma in situ of extrahepatic biliary ducts carcinoma in situ of the extrahepatic bile duct extrahepatic bile duct cancer stage 0 extrahepatic bile duct carcinoma in situ extrahepatic bile duct in situ carcinoma extrahepatic biliary duct carcinoma in situ stage 0 carcinoma of extrahepatic bile duct stage 0 carcinoma of the extrahepatic bile duct stage 0 extrahepatic bile duct cancer stage 0 extrahepatic bile duct carcinoma stage 0 extrahepatic bile duct carcinoma in situ carcinoma in situ of extrahepatic bile duct MONDO:0021300 A adenoid cystic carcinoma that involves the oropharynx. adenoid cystic carcinoma of the oropharynx oropharyngeal adenoid cystic carcinoma oropharyngeal throat adenoid cystic cancer oropharynx adenoid cystic carcinoma adenoid cystic carcinoma of oropharynx MONDO:0021301 A adenoma that involves the nipple. adenoma of the nipple nipple adenoma papillomatosis, subareolar duct subareolar duct papillomatosis adenoma of nipple MONDO:0021303 A adenoma that involves the small intestine. adenoma of small bowel adenoma of the small bowel adenoma of the small intestine small bowel adenoma small intestinal adenoma small intestine adenoma adenoma of small intestine MONDO:0021309 A cancer that involves the endocervix. cancer of endocervix endocervix cancer malignant endocervical neoplasm malignant endocervical tumor malignant endocervix neoplasm malignant endocervix tumor malignant neoplasm of endocervix malignant neoplasm of the endocervix malignant neoplasm of the uterine endocervix malignant neoplasm of uterine endocervix malignant tumor of endocervix malignant tumor of the endocervix malignant tumor of the uterine endocervix malignant tumor of uterine endocervix malignant uterine endocervix neoplasm malignant uterine endocervix tumor malignant neoplasm of endocervix MONDO:0021310 A cancer that involves the neck. cancer of neck cancer of the neck malignant neck neoplasm malignant neck tumor malignant neoplasm of neck malignant neoplasm of the neck malignant tumor of the neck neck cancer malignant tumor of neck MONDO:0021311 A cancer that involves the parathyroid gland. cancer of parathyroid gland malignant neoplasm of parathyroid malignant neoplasm of parathyroid gland malignant neoplasm of the parathyroid malignant neoplasm of the parathyroid gland malignant parathyroid gland neoplasm malignant parathyroid gland tumor malignant parathyroid neoplasm malignant parathyroid tumor malignant tumor of parathyroid malignant tumor of the parathyroid malignant tumor of the parathyroid gland parathyroid cancer parathyroid gland cancer malignant tumor of parathyroid gland MONDO:0021312 A cancer that involves the adrenal cortex. adrenal cortex cancer cancer of adrenal cortex malignant adrenal cortex neoplasm malignant adrenal cortex tumor malignant adrenocortical neoplasm malignant adrenocortical tumor malignant neoplasm of adrenal cortex malignant neoplasm of the adrenal cortex malignant tumor of the adrenal cortex malignant tumor of adrenal cortex MONDO:0021313 A cancer that involves the eyelid. cancer of eyelid eyelid cancer malignant eyelid neoplasm malignant eyelid tumor malignant neoplasm of eyelid malignant neoplasm of the eyelid malignant tumor of eyelid malignant tumor of the eyelid eyelid cancer MONDO:0021315 A cancer that involves the nasopharynx. cancer of nasopharynx malignant nasopharyngeal neoplasm malignant nasopharyngeal tumor malignant nasopharynx neoplasm malignant neoplasm of nasopharynx malignant neoplasm of the nasopharynx malignant tumor of the nasopharynx nasopharynx cancer malignant tumor of nasopharynx MONDO:0021316 A cancer that involves the minor salivary gland. cancer of minor salivary gland malignant minor salivary gland neoplasm malignant minor salivary gland tumor malignant neoplasm of minor salivary gland malignant neoplasm of the minor salivary gland malignant tumor of the minor salivary gland minor salivary gland cancer malignant tumor of minor salivary gland MONDO:0021317 A cancer that involves the cerebellum. cancer of cerebellum cancer of the cerebellum cerebellar cancer cerebellar neoplasm, malignant cerebellar tumor, malignant cerebellum cancer malignant cerebellar neoplasm malignant cerebellar neoplasms malignant cerebellar tumor malignant cerebellum neoplasm malignant neoplasm of cerebellum malignant neoplasm of the cerebellum malignant tumor of cerebellum malignant tumor of the cerebellum cancer of cerebellum MONDO:0021320 A cancer that involves the mouth floor. cancer of mouth floor malignant floor of mouth neoplasm malignant floor of mouth tumor malignant floor of the mouth neoplasm malignant floor of the mouth tumor malignant mouth floor neoplasm malignant neoplasm of floor of mouth malignant neoplasm of mouth floor malignant neoplasm of the floor of the mouth malignant tumor of the floor of the mouth mouth floor cancer malignant tumor of floor of mouth MONDO:0021321 A cancer that involves the extrahepatic bile duct. extrahepatic bile duct cancer cancer of extrahepatic bile duct malignant extrahepatic bile duct neoplasm malignant extrahepatic bile duct tumor malignant neoplasm of extrahepatic bile duct malignant neoplasm of the extrahepatic bile duct malignant tumor of the extrahepatic bile duct malignant tumor of extrahepatic bile duct MONDO:0021322 A cancer that involves the meningeal cluster. cancer of meningeal cluster cancer of meninges cancer of the meninges malignant meningeal cluster neoplasm malignant meningeal neoplasms malignant meningeal tumor malignant meninges neoplasm malignant meninges tumor malignant neoplasm of meningeal cluster malignant neoplasm of meninges malignant neoplasm of the meninges malignant neoplasms of meninges malignant tumor of the meninges meningeal cancer meningeal cluster cancer meningeal tumors, malignant malignant tumor of meninges MONDO:0021323 A cancer that involves the chest wall. cancer of chest wall chest wall cancer malignant chest wall neoplasm malignant chest wall tumor malignant neoplasm of chest wall malignant neoplasm of the chest wall malignant tumor of chest wall malignant tumor of the chest wall malignant neoplasm of chest wall MONDO:0021324 A cancer that involves the abdominal part of esophagus. abdominal part of esophagus cancer cancer of abdominal part of esophagus malignant abdominal part of esophagus neoplasm malignant neoplasm of abdominal part of esophagus malignant neoplasm of the abdominal esophagus malignant tumor of the abdominal esophagus malignant neoplasm of abdominal esophagus MONDO:0021325 A cancer that involves the thoracic part of esophagus. cancer of thoracic part of esophagus malignant neoplasm of the thoracic esophagus malignant neoplasm of thoracic part of esophagus malignant thoracic part of esophagus neoplasm thoracic part of esophagus cancer malignant neoplasm of thoracic esophagus MONDO:0021326 A cancer that involves the cervical part of esophagus. cancer of cervical part of esophagus cervical part of esophagus cancer malignant cervical part of esophagus neoplasm malignant neoplasm of cervical part of esophagus malignant neoplasm of the cervical esophagus malignant neoplasm of cervical esophagus MONDO:0021327 A carcinoma that involves the urethra. carcinoma of the urethra carcinoma of urethra urethra carcinoma urethral cancer urethral carcinoma carcinoma of urethra MONDO:0021329 A carcinoma that arises from the soft palate. The majority are squamous cell carcinomas. soft palate cancer carcinoma of soft palate carcinoma of the soft palate soft palate carcinoma carcinoma of soft palate MONDO:0021331 A carcinoma that involves the parotid gland. parotid gland cancer carcinoma of parotid carcinoma of parotid gland carcinoma of the parotid carcinoma of the parotid gland parotid carcinoma parotid gland carcinoma carcinoma of parotid gland MONDO:0021333 A carcinoma that involves the lip. lip cancer carcinoma of lip carcinoma of the Lip lip carcinoma carcinoma of lip MONDO:0021334 Disorders characterized by abnormal proliferation of primary cells of the immune system or by excessive production of immunoglobulins. immunoproliferative disorder Disorder, Immunoproliferative Disorders, Immunoproliferative Immunoproliferative Disorder Immunoproliferative Disorders Immunoproliferative disease Immunoproliferative disorder immunoproliferative disorder MONDO:0021335 A carcinoma that involves the duodenum. cancer of duodenum cancer of the duodenum duodenal cancer carcinoma of duodenum carcinoma of the duodenum duodenal carcinoma duodenum carcinoma carcinoma of duodenum MONDO:0021337 A carcinoma that involves the tonsil. cancer of the tonsil cancer of tonsil tonsil cancer tonsillar cancer carcinoma of the tonsil carcinoma of tonsil tonsil carcinoma tonsillar carcinoma tonsil carcinoma MONDO:0021339 A carcinoma that involves the hard palate. carcinoma of hard palate carcinoma of the hard palate hard palate carcinoma carcinoma of hard palate MONDO:0021340 A superficial dermatitis occurring on skin surfaces in contact with each other, such as the axillae, neck creases, intergluteal fold, between the toes, etc. Obesity is a predisposing factor. The condition is caused by moisture and friction and is characterized by erythema, maceration, burning, and exudation. Eczema intertrigo Erythema intertrigo Intertrigo intertrigo MONDO:0021343 A carcinoma that involves the mouth floor. mouth floor cancer carcinoma of mouth floor carcinoma of the floor of the mouth floor of mouth carcinoma floor of the mouth carcinoma mouth floor carcinoma carcinoma of floor of mouth MONDO:0021345 A carcinoma that involves the pharynx. cancer of the pharynx carcinoma of pharynx carcinoma of the pharynx pharyngeal carcinoma pharyngeal throat cancer pharynx carcinoma carcinoma of pharynx MONDO:0021348 A neoplasm (disease) that involves the testis. neoplasm of testis neoplasm of the testis testicular neoplasm testicular tumor testis neoplasm testis neoplasm (disease) testis tumor tumor of testis tumor of the testis neoplasm of testis MONDO:0021350 A neoplasm (disease) that involves the thoracic segment of trunk. neoplasm of the thorax neoplasm of thoracic segment of trunk thoracic neoplasm thoracic segment of trunk neoplasm thoracic segment of trunk neoplasm (disease) thoracic segment of trunk tumor thoracic tumor tumor of the thorax tumor of thoracic segment of trunk tumor of thorax neoplasm of thorax MONDO:0021351 A neoplasm (disease) that involves the neck. neck neoplasm neck neoplasm (disease) neck neoplasms (Including All pharyngeal related neoplasms) neck tumor neoplasm of neck neoplasm of the neck tumor of neck tumor of the neck neoplasm of neck MONDO:0021353 A neoplasm (disease) that involves the uterus. neoplasm of the uterus neoplasm of uterus tumor of the uterus tumor of uterus uterine neoplasm uterine neoplasms uterine tumor uterus neoplasm uterus neoplasm (disease) uterus tumor tumor of uterus MONDO:0021354 A neoplasm (disease) that involves the adipose tissue. adipose tissue neoplasm adipose tissue neoplasm (disease) adipose tissue tumor lipomatous neoplasm lipomatous tumor neoplasm of adipose tissue neoplasm of the adipose tissue tumor of adipose tissue tumor of the adipose tissue tumor of adipose tissue MONDO:0021355 A neoplasm (disease) that involves the esophagus. esophageal neoplasm esophageal neoplasms, benign and malignant esophageal tumor esophageal tumors esophagus neoplasm esophagus neoplasm (disease) esophagus tumor neoplasm of esophagus neoplasm of the esophagus tumor of esophagus tumor of the esophagus neoplasm of esophagus MONDO:0021357 A neoplasm (disease) that involves the saliva-secreting gland. neoplasm of saliva-secreting gland neoplasm of salivary gland neoplasm of the salivary gland saliva-secreting gland neoplasm saliva-secreting gland neoplasm (disease) saliva-secreting gland tumor salivary gland neoplasm salivary gland tumor tumor of saliva-secreting gland tumor of the salivary gland tumor of salivary gland MONDO:0021358 A neoplasm (disease) that involves the hypopharynx. hypopharyngeal neoplasm hypopharyngeal neoplasms hypopharyngeal tumor hypopharynx neoplasm hypopharynx neoplasm (disease) hypopharynx tumor neoplasm of hypopharynx neoplasm of the hypopharynx tumor of hypopharynx tumor of the hypopharynx neoplasm of hypopharynx MONDO:0021360 A neoplasm (disease) that involves the parathyroid gland. neoplasm of parathyroid neoplasm of parathyroid gland neoplasm of the parathyroid neoplasm of the parathyroid gland parathyroid gland neoplasm parathyroid gland neoplasm (disease) parathyroid gland tumor parathyroid neoplasm parathyroid tumor tumor of parathyroid tumor of parathyroid gland tumor of the parathyroid tumor of the parathyroid gland tumor of parathyroid gland MONDO:0021364 A neoplasm (disease) that involves the oropharynx. neoplasm of oropharynx neoplasm of the oropharynx oropharyngeal neoplasm oropharyngeal neoplasms oropharyngeal tumor oropharynx neoplasm oropharynx neoplasm (disease) oropharynx tumor tumor of oropharynx tumor of the oropharynx neoplasm of oropharynx MONDO:0021366 A neoplasm (disease) that involves the middle ear. middle Ear neoplasm middle Ear tumor middle ear neoplasm middle ear neoplasm (disease) middle ear tumor neoplasm of middle ear neoplasm of the middle Ear tumor of middle Ear tumor of middle ear tumor of the middle Ear neoplasm of middle ear MONDO:0021367 The phase of chronic myeloid leukemia following the chronic phase (leukemia, myeloid, chronic-phase), where there are increased systemic symptoms, worsening cytopenias, and refractory leukocytosis. Accelerated Phase CML Accelerated Phase Chronic Granulocytic Leukemia Accelerated Phase Chronic Myelocytic Leukemia Accelerated Phase Chronic Myelogenous Leukemia Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive Accelerated Phase Chronic Myeloid Leukemia Accelerated phase chronic myeloid leukemia Aggressive-Phase CML Aggressive-Phase Chronic Myelocytic Leukemia Aggressive-Phase Chronic Myelogenous Leukemia Aggressive-Phase Chronic Myeloid Leukemia CML ACCELERATED CML AGGRESSIVE Leukemia, Myelogenous, Aggressive Phase Leukemia, Myelogenous, Aggressive-Phase Leukemia, Myeloid, Accelerated Phase Leukemia, Myeloid, Accelerated-Phase Leukemia, Myeloid, Aggressive-Phase Myelogenous Leukemia, Chronic, Aggressive Phase Myelogenous Leukemia, Chronic, Aggressive-Phase Myeloid Leukemia, Chronic, Accelerated Phase Myeloid Leukemia, Chronic, Accelerated-Phase Myeloid Leukemia, Chronic, Aggressive Phase Myeloid Leukemia, Chronic, Aggressive-Phase leukemia, myeloid, accelerated-phase MONDO:0021368 A neoplasm (disease) that involves the major salivary gland. major salivary gland neoplasm major salivary gland neoplasm (disease) major salivary gland tumor neoplasm of major salivary gland neoplasm of the Major salivary gland tumor of Major salivary gland tumor of major salivary gland tumor of the Major salivary gland neoplasm of major salivary gland MONDO:0021370 A neoplasm (disease) that involves the minor salivary gland. minor salivary gland neoplasm minor salivary gland neoplasm (disease) minor salivary gland tumor neoplasm of minor salivary gland neoplasm of the minor salivary gland tumor of minor salivary gland tumor of the minor salivary gland neoplasm of minor salivary gland MONDO:0021372 A neoplasm (disease) that involves the temporal lobe. neoplasm of temporal lobe neoplasm of the temporal lobe temporal lobe neoplasm temporal lobe neoplasm (disease) temporal lobe tumor tumor of temporal lobe tumor of the temporal lobe neoplasm of temporal lobe MONDO:0021373 A neoplasm (disease) that involves the parietal lobe. neoplasm of parietal lobe neoplasm of the parietal lobe parietal lobe neoplasm parietal lobe neoplasm (disease) parietal lobe tumor tumor of parietal lobe tumor of the parietal lobe neoplasm of parietal lobe MONDO:0021374 A neoplasm involving a cerebral hemisphere. cerebral hemisphere neoplasm cerebral hemisphere tumor cerebral hemispheric neoplasm cerebral hemispheric tumor cerebral neoplasm cerebral neoplasms cerebral tumor neoplasm of cerebral hemisphere neoplasm of cerebral hemispheres neoplasm of cerebrum neoplasm of telencephalon neoplasm of the cerebral hemispheres neoplasm of the cerebrum telencephalon neoplasm (disease) telencephalon tumor tumor of cerebral hemisphere tumor of cerebral hemispheres tumor of cerebrum tumor of telencephalon tumor of the cerebral hemispheres tumor of the cerebrum neoplasm of cerebral hemisphere MONDO:0021375 A neoplasm (disease) that involves the duodenum. duodenal neoplasm duodenal tumor duodenum neoplasm duodenum neoplasm (disease) duodenum tumor neoplasm of duodenum neoplasm of the duodenum tumor of duodenum tumor of the duodenum tumor of duodenum MONDO:0021377 A form of lichen planus that is characterized by plaques of markedly thickened skin that is often extremely pruritic and localized to the lower legs. It can result in permanent pigmentation and scarring. hypertrophic lichen planus Hypertrophic Lichen Planus Hypertrophic lichen planus Lichen planus hypertrophicus lichen planus hypertrophicus hypertrophic lichen planus MONDO:0021378 A neoplasm (disease) that involves the endocardium. endocardial neoplasm endocardial tumor endocardium neoplasm endocardium neoplasm (disease) endocardium tumor neoplasm of endocardium neoplasm of the endocardium tumor of endocardium tumor of the endocardium neoplasm of endocardium MONDO:0021379 A neoplasm (disease) that involves the epicardium. epicardial neoplasm epicardial tumor epicardium neoplasm epicardium neoplasm (disease) epicardium tumor neoplasm of epicardium neoplasm of the epicardium tumor of epicardium tumor of the epicardium neoplasm of epicardium MONDO:0021380 A neoplasm (disease) that involves the myocardium. myocardial neoplasm myocardial tumor myocardium neoplasm myocardium neoplasm (disease) myocardium tumor neoplasm of myocardium neoplasm of the myocardium tumor of myocardium tumor of the myocardium neoplasm of myocardium MONDO:0021381 A neoplasm (disease) that involves the pericardium. neoplasm of pericardium neoplasm of the pericardium pericardial neoplasm pericardial tumor pericardium neoplasm pericardium neoplasm (disease) pericardium tumor tumor of pericardium tumor of the pericardium neoplasm of pericardium MONDO:0021383 A neoplasm (disease) that involves the mouth floor. floor of mouth neoplasm floor of mouth tumor floor of the mouth neoplasm floor of the mouth tumor mouth floor neoplasm mouth floor neoplasm (disease) mouth floor tumor neoplasm of mouth floor neoplasm of the floor of the mouth tumor of floor of mouth tumor of mouth floor tumor of the floor of the mouth neoplasm of floor of mouth MONDO:0021385 A benign or malignant neoplasm that affects the extrahepatic bile ducts. Representative examples include adenoma and adenocarcinoma. https://github.com/monarch-initiative/mondo/issues/3673 extrahepatic bile duct neoplasm extrahepatic bile duct neoplasm (disease) extrahepatic bile duct tumor neoplasm of extrahepatic bile duct neoplasm of the extrahepatic bile duct tumor of extrahepatic bile duct tumor of the extrahepatic bile duct extrahepatic bile duct neoplasm MONDO:0021386 A neoplasm (disease) that involves the mediastinum. mediastinal neoplasm mediastinal tumor mediastinum neoplasm mediastinum neoplasm (disease) mediastinum tumor neoplasm of mediastinum neoplasm of the mediastinum tumor of mediastinum tumor of the mediastinum neoplasm of mediastinum MONDO:0021388 A neoplasm (disease) that involves the chest wall. chest wall neoplasm chest wall neoplasm (disease) chest wall tumor neoplasm of chest wall neoplasm of the chest wall tumor of chest wall tumor of the chest wall neoplasm of chest wall MONDO:0021389 A benign or malignant extra-adrenal parasympathetic paraganglioma that arises from paraganglia adjacent to the base of the heart and great vessels. aortic body neoplasm aortic body neoplasm (disease) aortic body paraganglioma aortic body tumor aorticopulmonary paraganglioma neoplasm of aortic body neoplasm of the aortic body paraganglioma of aortic body paraganglioma of the aortic body tumor of aortic body tumor of the aortic body neoplasm of aortic body MONDO:0021390 A polyp that involves the ureter. polyp of the ureter ureter polyp ureteral polyp polyp of ureter MONDO:0021392 A polyp that involves the large intestine. colorectal polyp large bowel polyp large intestine polyp polyp of large bowel polyp of the large bowel polyp of the large intestine polyp of large intestine MONDO:0021394 A polyp that involves the vagina. polyp of the vagina polyp, vaginal, benign vagina polyp vaginal polyp polyp of vagina MONDO:0021396 A polyp that involves the mammalian vulva. mammalian vulva polyp polyp of the vulva vulva polyp vulvar polyp polyp of vulva MONDO:0021398 A polyp that involves the rectum. polyp of the rectum rectal polyp rectum polyp polyp of rectum MONDO:0021400 A polyp that involves the colon. colon polyp colonic polyp polyp of the colon polyp of colon MONDO:0021402 A polyp that involves the external acoustic meatus. external Ear polyp external acoustic meatus polyp external auditory canal polyp polyp of the external auditory canal polyp of external auditory canal MONDO:0021404 A polyp that involves the sphenoidal sinus. polyp of sphenoid sinus polyp of the sphenoid sinus polyp of the sphenoidal sinus sphenoid sinus polyp sphenoidal sinus polyp polyp of sphenoidal sinus MONDO:0021408 A polyp that involves the frontal sinus. frontal sinus polyp polyp of the frontal sinus polyp of frontal sinus MONDO:0021412 A polyp that involves the maxillary sinus. maxillary antral polyp maxillary sinus polyp polyp of the maxillary sinus polyp of maxillary sinus MONDO:0021416 A polyp that involves the gall bladder. gall bladder polyp gallbladder polyp polyp of the gallbladder polyp of gallbladder MONDO:0021418 A polyp that involves the ethmoid sinus. ethmoid sinus polyp ethmoidal polyp ethmoidal sinus polyp polyp of ethmoid sinus polyp of the ethmoid sinus polyp of the ethmoidal sinus polyp of ethmoidal sinus MONDO:0021420 A non-neoplastic polypoid swelling of the vocal cord mucosa. It is usually unilateral and caused by excessive use of the voice. laryngeal vocal fold polyp polyp of the vocal cord vocal cord polyp polyp of vocal cord MONDO:0021424 A hemangiopericytoma that involves the zone of skin. hemangiopericytoma of the skin skin hemangiopericytoma zone of skin hemangiopericytoma hemangiopericytoma of skin MONDO:0021427 A squamous cell carcinoma that involves the lip. lip scc lip squamous cell carcinoma scc of Lip scc of the Lip squamous cell carcinoma of the Lip squamous cell carcinoma of lip MONDO:0021429 A squamous cell carcinoma that involves the mouth floor. floor of mouth scc floor of mouth squamous cell carcinoma mouth floor squamous cell carcinoma scc of floor of mouth scc of the floor of mouth squamous cell carcinoma of the floor of mouth squamous cell carcinoma of floor of mouth MONDO:0021431 A squamous cell carcinoma that involves the buccal mucosa. buccal mucosa squamous cell carcinoma scc of buccal mucosa scc of the buccal mucosa squamous cell carcinoma of the buccal mucosa squamous cell carcinoma of buccal mucosa MONDO:0021437 A lipoma that involves the stomach. gastric lipoma lipoma of the stomach stomach lipoma lipoma of stomach MONDO:0021439 A benign neoplasm that involves the pituitary gland. benign neoplasm of pituitary benign neoplasm of the pituitary benign neoplasm of the pituitary gland benign pituitary gland neoplasm benign pituitary gland tumor benign pituitary neoplasm benign pituitary tumor benign tumor of pituitary benign tumor of pituitary gland benign tumor of the pituitary benign tumor of the pituitary gland pituitary gland benign neoplasm pituitary neoplasms, benign pituitary tumor, benign benign neoplasm of pituitary gland MONDO:0021440 A benign neoplasm that involves the zone of skin. benign cutaneous neoplasm benign cutaneous tumor benign neoplasm of the skin benign skin neoplasm benign skin tumor benign tumor of skin benign tumor of the skin skin neoplasms, benign zone of skin benign neoplasm benign neoplasm of skin MONDO:0021441 A benign neoplasm that involves the exocrine pancreas. benign exocrine pancreas neoplasm benign exocrine pancreas tumor benign exocrine pancreatic neoplasm benign neoplasm of the exocrine pancreas benign tumor of exocrine pancreas benign tumor of the exocrine pancreas exocrine pancreas benign neoplasm benign neoplasm of exocrine pancreas MONDO:0021443 A benign neoplasm that involves the lymph node. benign lymph node neoplasm benign lymph node tumor benign neoplasm of the lymph node benign tumor of lymph node benign tumor of the lymph node lymph node benign neoplasm benign neoplasm of lymph node MONDO:0021444 A benign neoplasm that involves the large intestine. benign colorectal neoplasm benign colorectal neoplasms benign colorectal tumor benign colorectal tumors benign large bowel neoplasm benign large bowel tumor benign large intestine neoplasm benign large intestine tumor benign neoplasm of large bowel benign neoplasm of the large bowel benign neoplasm of the large intestine benign tumor of large bowel benign tumor of large intestine benign tumor of the large bowel benign tumor of the large intestine colorectal neoplasms, benign colorectal tumors, benign large intestine benign neoplasm neoplasms, colorectal, benign tumors, colorectal, benign benign neoplasm of large intestine MONDO:0021445 A benign neoplasm that involves the oral cavity. benign mouth neoplasm benign mouth tumor benign neoplasm of mouth benign neoplasm of the mouth benign neoplasm of the oral cavity benign oral cavity neoplasm benign oral cavity tumor benign tumor of mouth benign tumor of oral cavity benign tumor of the mouth benign tumor of the oral cavity oral cavity benign neoplasm benign neoplasm of oral cavity MONDO:0021446 A benign neoplasm that involves the epiglottis. benign Epiglottis neoplasm benign Epiglottis tumor benign epiglottic neoplasm benign epiglottic tumor benign neoplasm of the Epiglottis benign tumor of Epiglottis benign tumor of the Epiglottis epiglottis benign neoplasm benign neoplasm of epiglottis MONDO:0021447 A benign neoplasm that involves the testis. benign neoplasm of the testis benign testicular neoplasm benign testicular tumor benign tumor of testis benign tumor of the testis testis benign neoplasm benign neoplasm of testis MONDO:0021449 A benign neoplasm that involves the stomach. benign gastric neoplasm benign gastric tumor benign gastric tumors benign neoplasm of the stomach benign stomach neoplasms benign stomach tumors benign tumor of stomach benign tumor of the stomach benign tumors of stomach benign tumors of the stomach gastric neoplasms, benign gastric tumors, benign stomach benign neoplasm stomach neoplasms, benign stomach tumors, benign benign neoplasm of stomach MONDO:0021450 A benign neoplasm that involves the heart. benign Cardiac neoplasm benign Cardiac tumor benign heart neoplasm benign heart tumor benign neoplasm of the heart benign tumor of heart benign tumor of the heart heart benign neoplasm benign neoplasm of heart MONDO:0021451 A benign neoplasm that involves the brain. benign brain neoplasm benign brain tumor benign neoplasm of the brain benign tumor of brain benign tumor of the brain brain benign neoplasm brain neoplasms, benign benign neoplasm of brain MONDO:0021452 A benign neoplasm that involves the cornea. benign cornea neoplasm benign cornea tumor benign corneal neoplasm benign corneal tumor benign neoplasm of the cornea benign tumor of cornea benign tumor of the cornea cornea benign neoplasm benign neoplasm of cornea MONDO:0021453 A benign neoplasm that involves the retina. benign neoplasm of the retina benign retina neoplasm benign retina tumor benign retinal neoplasm benign retinal tumor benign tumor of retina benign tumor of the retina retina benign neoplasm benign neoplasm of retina MONDO:0021454 A benign neoplasm that involves the eye. benign eye neoplasm benign eye tumor benign neoplasm of the eye benign ocular neoplasm benign ocular tumor benign tumor of eye benign tumor of the eye eye benign neoplasm benign neoplasm of eye MONDO:0021455 A benign neoplasm that involves the neck. benign neck neoplasm benign neck tumor benign neoplasm of the neck benign tumor of neck benign tumor of the neck neck benign neoplasm benign neoplasm of neck MONDO:0021456 A benign neoplasm that involves the sternum. benign neoplasm of the sternum benign sternal neoplasm benign sternal tumor benign tumor of sternum benign tumor of the sternum sternum benign neoplasm benign neoplasm of sternum MONDO:0021457 A benign neoplasm that involves the pleura. benign neoplasm of the pleura benign pleural neoplasm benign pleural tumor benign tumor of pleura benign tumor of the pleura pleura benign neoplasm benign neoplasm of pleura MONDO:0021458 A benign neoplasm that involves the penis. benign neoplasm of the penis benign penile neoplasm benign penile tumor benign tumor of penis benign tumor of the penis penis benign neoplasm benign neoplasm of penis MONDO:0021459 A benign neoplasm that involves the esophagus. benign esophageal neoplasm benign esophageal tumor benign esophagus neoplasm benign esophagus tumor benign neoplasm of the esophagus benign tumor of esophagus benign tumor of the esophagus esophagus benign neoplasm benign neoplasm of esophagus MONDO:0021460 A benign neoplasm that involves the saliva-secreting gland. benign neoplasm of the salivary gland benign salivary gland neoplasm benign salivary gland tumor benign tumor of salivary gland benign tumor of the salivary gland saliva-secreting gland benign neoplasm salivary gland neoplasm, benign benign neoplasm of salivary gland MONDO:0021461 A benign neoplasm that involves the hypopharynx. benign hypopharyngeal neoplasm benign hypopharyngeal tumor benign neoplasm of the hypopharynx benign tumor of hypopharynx benign tumor of the hypopharynx hypopharyngeal neoplasm, benign hypopharynx benign neoplasm benign neoplasm of hypopharynx MONDO:0021462 A benign neoplasm that involves the rectum. benign neoplasm of the rectum benign rectal neoplasm benign rectal neoplasms benign rectal tumor benign rectal tumors benign tumor of rectum benign tumor of the rectum rectal neoplasms, benign rectal tumors, benign rectum benign neoplasm benign neoplasm of rectum MONDO:0021463 A benign neoplasm that involves the parathyroid gland. benign neoplasm of parathyroid benign neoplasm of the parathyroid benign neoplasm of the parathyroid gland benign parathyroid gland neoplasm benign parathyroid gland tumor benign parathyroid neoplasm benign parathyroid tumor benign tumor of parathyroid benign tumor of parathyroid gland benign tumor of the parathyroid benign tumor of the parathyroid gland parathyroid gland benign neoplasm parathyroid tumor benign benign neoplasm of parathyroid gland MONDO:0021464 A benign neoplasm that involves the caecum. benign cecum neoplasm benign cecum tumor benign neoplasm of the cecum benign tumor of cecum benign tumor of the cecum caecum benign neoplasm benign neoplasm of cecum MONDO:0021465 A benign neoplasm that involves the vermiform appendix. benign appendix neoplasm benign appendix tumor benign neoplasm of the appendix benign tumor of appendix benign tumor of the appendix vermiform appendix benign neoplasm benign neoplasm of appendix MONDO:0021467 A benign neoplasm that involves the renal pelvis. benign kidney pelvis neoplasm benign neoplasm of the renal pelvis benign renal pelvis neoplasm benign renal pelvis tumor benign tumor of renal pelvis benign tumor of the renal pelvis renal pelvis benign neoplasm benign neoplasm of renal pelvis MONDO:0021468 A benign neoplasm that involves the adrenal medulla. adrenal medulla benign neoplasm benign adrenal medulla neoplasm benign adrenal medulla tumor benign neoplasm of the adrenal medulla benign tumor of adrenal medulla benign tumor of the adrenal medulla benign neoplasm of adrenal medulla MONDO:0021469 A benign neoplasm that involves the anus. anus benign neoplasm benign anal neoplasm benign anal tumor benign neoplasm of the anus benign tumor of anus benign tumor of the anus benign neoplasm of anus MONDO:0021470 A benign neoplasm that involves the pancreas. benign neoplasm of the pancreas benign pancreas neoplasm benign pancreas tumor benign pancreatic neoplasm benign pancreatic tumor benign tumor of pancreas benign tumor of the pancreas pancreas benign neoplasm pancreas neoplasm, benign pancreas tumor, benign pancreatic neoplasm, benign pancreatic tumor, benign benign neoplasm of pancreas MONDO:0021471 A benign neoplasm that involves the endometrium. benign endometrial neoplasm benign endometrial tumor benign endometrium neoplasm benign endometrium tumor benign neoplasm of the endometrium benign tumor of endometrium benign tumor of the endometrium endometrium benign neoplasm benign neoplasm of endometrium MONDO:0021472 A benign neoplasm that involves the scrotum. benign neoplasm of the scrotum benign scrotal neoplasm benign scrotal tumor benign tumor of scrotum benign tumor of the scrotum scrotum benign neoplasm benign neoplasm of scrotum MONDO:0021473 A benign neoplasm that involves the epididymis. benign epididymal neoplasm benign epididymal tumor benign neoplasm of the epididymis benign tumor of epididymis benign tumor of the epididymis epididymis benign neoplasm benign neoplasm of epididymis MONDO:0021474 A benign neoplasm that involves the ear. aural neoplasms, benign benign Ear neoplasm benign Ear tumor benign neoplasm of the Ear benign tumor of Ear benign tumor of the Ear ear benign neoplasm benign neoplasm of ear MONDO:0021475 A benign neoplasm that involves the nasal cavity. benign nasal cavity neoplasm benign nasal cavity tumor benign neoplasm of the nasal cavity benign tumor of nasal cavity benign tumor of the nasal cavity nasal cavity benign neoplasm benign neoplasm of nasal cavity MONDO:0021476 A benign neoplasm that involves the tongue. benign neoplasm of the tongue benign tongue neoplasm benign tongue tumor benign tumor of the tongue benign tumor of tongue tongue benign neoplasm tongue neoplasm, benign benign neoplasm of tongue MONDO:0021477 A non-metastasizing neoplasm that arises from the sphenoid sinus. benign neoplasm of sphenoid sinus benign neoplasm of the sphenoid sinus benign neoplasm of the sphenoidal sinus benign sphenoid sinus neoplasm benign sphenoid sinus tumor benign sphenoidal sinus neoplasm benign sphenoidal sinus tumor benign tumor of sphenoid sinus benign tumor of sphenoidal sinus benign tumor of the sphenoid sinus benign tumor of the sphenoidal sinus sphenoidal sinus benign neoplasm benign neoplasm of sphenoidal sinus MONDO:0021478 A benign neoplasm that involves the nasopharynx. benign nasopharyngeal neoplasm benign nasopharyngeal tumor benign neoplasm of the nasopharynx benign tumor of nasopharynx benign tumor of the nasopharynx nasopharyngeal neoplasm, benign nasopharynx benign neoplasm benign neoplasm of nasopharynx MONDO:0021479 A benign neoplasm that involves the oropharynx. benign neoplasm of the oropharynx benign oropharyngeal neoplasm benign oropharyngeal tumor benign tumor of oropharynx benign tumor of the oropharynx oropharyngeal neoplasm benign oropharynx benign neoplasm benign neoplasm of oropharynx MONDO:0021480 A benign neoplasm that involves the soft palate. benign neoplasm of the soft palate benign soft palate neoplasm benign soft palate tumor benign tumor of soft palate benign tumor of the soft palate soft palate benign neoplasm benign neoplasm of soft palate MONDO:0021481 A benign neoplasm that involves the submandibular gland. benign neoplasm of the submandibular gland benign submandibular gland neoplasm benign submandibular gland tumor benign tumor of submandibular gland benign tumor of the submandibular gland submandibular gland benign neoplasm benign neoplasm of submandibular gland MONDO:0021482 A benign neoplasm that involves the middle ear. benign middle Ear neoplasm benign middle Ear tumor benign neoplasm of the middle Ear benign tumor of middle Ear benign tumor of the middle Ear middle ear benign neoplasm benign neoplasm of middle ear MONDO:0021483 A benign neoplasm that involves the frontal sinus. benign frontal sinus neoplasm benign frontal sinus tumor benign neoplasm of the frontal sinus benign tumor of frontal sinus benign tumor of the frontal sinus frontal sinus benign neoplasm benign neoplasm of frontal sinus MONDO:0021484 A benign neoplasm that involves the maxillary sinus. benign maxillary antrum neoplasm benign maxillary antrum tumor benign maxillary sinus neoplasm benign maxillary sinus tumor benign maxillofacial sinus neoplasm benign maxillofacial sinus tumor benign neoplasm of maxillary antrum benign neoplasm of maxillofacial sinus benign neoplasm of the maxillary antrum benign neoplasm of the maxillary sinus benign neoplasm of the maxillofacial sinus benign tumor of maxillary antrum benign tumor of maxillary sinus benign tumor of maxillofacial sinus benign tumor of the maxillary antrum benign tumor of the maxillary sinus benign tumor of the maxillofacial sinus maxillary sinus benign neoplasm benign neoplasm of maxillary sinus MONDO:0021485 A benign neoplasm that involves the iris. benign iris neoplasm benign iris tumor benign neoplasm of the iris benign tumor of iris benign tumor of the iris iris benign neoplasm benign neoplasm of iris MONDO:0021486 A benign neoplasm that involves the ciliary body. benign ciliary body neoplasm benign ciliary body tumor benign neoplasm of the ciliary body benign tumor of ciliary body benign tumor of the ciliary body ciliary body benign neoplasm benign neoplasm of ciliary body MONDO:0021487 A benign neoplasm that involves the optic choroid. benign choroid neoplasm benign choroid tumor benign neoplasm of the choroid benign tumor of choroid benign tumor of the choroid optic choroid benign neoplasm benign neoplasm of choroid MONDO:0021488 A benign neoplasm that involves the lacrimal gland. benign lacrimal gland neoplasm benign lacrimal gland tumor benign neoplasm of the lacrimal gland benign tumor of lacrimal gland benign tumor of the lacrimal gland lacrimal gland benign neoplasm benign neoplasm of lacrimal gland MONDO:0021489 A benign neoplasm that involves the sweat gland. benign neoplasm of the sweat gland benign sweat gland neoplasm benign sweat gland tumor benign tumor of sweat gland benign tumor of the sweat gland sweat gland benign neoplasm sweat gland neoplasm, benign benign neoplasm of sweat gland MONDO:0021490 A benign neoplasm that involves the sebaceous gland. benign neoplasm of the sebaceous gland benign sebaceous gland neoplasm benign sebaceous gland tumor benign sebaceous neoplasm benign sebaceous skin neoplasm benign sebaceous skin tumor benign sebaceous tumor benign tumor of sebaceous gland benign tumor of the sebaceous gland sebaceous gland benign neoplasm benign neoplasm of sebaceous gland MONDO:0021491 A benign neoplasm that involves the gingiva. benign gingival neoplasm benign gingival tumor benign gum neoplasm benign gum tumor benign neoplasm of gingiva benign neoplasm of the gingiva benign neoplasm of the gum benign tumor of gingiva benign tumor of gum benign tumor of the gingiva benign tumor of the gum gingiva benign neoplasm benign neoplasm of gum MONDO:0021492 A benign neoplasm that involves the major salivary gland. benign Major salivary gland neoplasm benign Major salivary gland tumor benign neoplasm of the Major salivary gland benign tumor of Major salivary gland benign tumor of the Major salivary gland major salivary gland benign neoplasm benign neoplasm of major salivary gland MONDO:0021493 A benign neoplasm that involves the minor salivary gland. benign minor salivary gland neoplasm benign minor salivary gland tumor benign neoplasm of the minor salivary gland benign tumor of minor salivary gland benign tumor of the minor salivary gland minor salivary gland benign neoplasm benign neoplasm of minor salivary gland MONDO:0021494 A benign neoplasm that involves the parotid gland. benign neoplasm of parotid benign neoplasm of the parotid benign neoplasm of the parotid gland benign parotid gland neoplasm benign parotid gland tumor benign parotid neoplasm benign parotid tumor benign tumor of parotid benign tumor of parotid gland benign tumor of the parotid benign tumor of the parotid gland parotid gland benign neoplasm benign neoplasm of parotid gland MONDO:0021495 A benign neoplasm that involves the sublingual gland. benign neoplasm of the sublingual gland benign sublingual gland neoplasm benign sublingual gland tumor benign tumor of sublingual gland benign tumor of the sublingual gland sublingual gland benign neoplasm benign neoplasm of sublingual gland MONDO:0021496 A benign neoplasm that involves the lip. benign Lip neoplasm benign Lip tumor benign neoplasm of the Lip benign tumor of Lip benign tumor of the Lip lip benign neoplasm lip neoplasm, benign benign neoplasm of lip MONDO:0021497 A benign neoplasm that involves the telencephalon. benign cerebral hemispheric neoplasm benign cerebral hemispheric tumor benign cerebral neoplasm benign cerebral tumor benign neoplasm of cerebral hemispheres benign neoplasm of the cerebral hemispheres benign neoplasm of the cerebrum benign tumor of cerebral hemispheres benign tumor of cerebrum benign tumor of the cerebral hemispheres benign tumor of the cerebrum telencephalon benign neoplasm benign neoplasm of cerebrum MONDO:0021498 A benign neoplasm that involves the placenta. benign neoplasm of the placenta benign placenta neoplasm benign placenta tumor benign placental neoplasm benign placental tumor benign tumor of placenta benign tumor of the placenta placenta benign neoplasm placental neoplasms, benign benign neoplasm of placenta MONDO:0021499 A benign neoplasm that involves the cerebellum. benign cerebellar neoplasm benign cerebellar neoplasms benign cerebellar tumor benign neoplasm of the cerebellum benign tumor of cerebellum benign tumor of the cerebellum cerebellar neoplasms, benign cerebellum benign neoplasm neoplasms, benign, cerebellar neoplasms, cerebellar, benign benign neoplasm of cerebellum MONDO:0021500 A benign neoplasm that involves the spleen. benign neoplasm of the spleen benign splenic neoplasm spleen benign neoplasm benign neoplasm of spleen MONDO:0021501 A benign neoplasm that involves the small intestine. benign neoplasm of the small intestine benign small intestinal neoplasm benign small intestinal tumor benign small intestine neoplasm benign small intestine tumor benign tumor of small intestine benign tumor of the small intestine small intestine benign neoplasm benign neoplasm of small intestine MONDO:0021503 A benign neoplasm that involves the gall bladder. benign gallbladder neoplasm benign gallbladder tumor benign neoplasm of the gallbladder benign tumor of gallbladder benign tumor of the gallbladder gall bladder benign neoplasm gallbladder benign neoplasm gallbladder benign tumor benign neoplasm of gallbladder MONDO:0021505 A benign neoplasm that involves the endocardium. benign endocardial neoplasm benign endocardial tumor benign neoplasm of the endocardium benign tumor of endocardium benign tumor of the endocardium endocardium benign neoplasm benign neoplasm of endocardium MONDO:0021506 A benign neoplasm that involves the spinal cord. benign neoplasm of the spinal cord benign spinal cord neoplasm benign spinal cord tumor benign tumor of spinal cord benign tumor of the spinal cord spinal cord benign neoplasm spinal cord neoplasm, benign benign neoplasm of spinal cord MONDO:0021507 A benign neoplasm that involves the brainstem. benign brain stem neoplasm benign brain stem neoplasms benign brain stem tumor benign brainstem neoplasm benign brainstem neoplasms benign brainstem tumor benign brainstem tumors benign neoplasm of brainstem benign neoplasm of the brain stem benign neoplasm of the brainstem benign neoplasms of brainstem benign neoplasms of the brainstem benign tumor of brain stem benign tumor of brainstem benign tumor of the brain stem benign tumor of the brainstem benign tumors of brainstem benign tumors of the brainstem brainstem benign neoplasm benign neoplasm of brain stem MONDO:0021508 A benign neoplasm that involves the epicardium. benign epicardial neoplasm benign epicardial tumor benign neoplasm of the epicardium benign tumor of epicardium benign tumor of the epicardium epicardium benign neoplasm benign neoplasm of epicardium MONDO:0021509 A benign neoplasm that involves the myocardium. benign myocardial neoplasm benign myocardial tumor benign neoplasm of the myocardium benign tumor of myocardium benign tumor of the myocardium myocardium benign neoplasm benign neoplasm of myocardium MONDO:0021510 A benign neoplasm that involves the prostate gland. benign neoplasm of the prostate benign prostate neoplasm benign prostate tumor benign prostatic neoplasm benign tumor of prostate benign tumor of the prostate prostate gland benign neoplasm benign neoplasm of prostate MONDO:0021511 A benign neoplasm that involves the adrenal gland. adrenal gland benign neoplasm benign adrenal gland neoplasm benign adrenal gland tumor benign adrenal neoplasm benign adrenal tumor benign neoplasm of the adrenal gland benign tumor of adrenal gland benign tumor of the adrenal gland benign neoplasm of adrenal gland MONDO:0021512 A benign neoplasm that involves the thymus. benign Thymus neoplasm benign Thymus tumor benign neoplasm of the Thymus benign thymic neoplasm benign thymic tumor benign tumor of Thymus benign tumor of the Thymus thymus benign neoplasm benign neoplasm of thymus MONDO:0021513 A benign neoplasm that involves the tonsil. benign neoplasm of the tonsil benign tonsil neoplasm benign tonsil tumor benign tonsillar neoplasm benign tonsillar tumor benign tumor of the tonsil benign tumor of tonsil tonsil benign neoplasm tonsillar neoplasm, benign benign neoplasm of tonsil MONDO:0021514 A benign neoplasm that involves the pericardium. benign neoplasm of the pericardium benign pericardial neoplasm benign pericardial tumor benign tumor of pericardium benign tumor of the pericardium pericardium benign neoplasm benign neoplasm of pericardium MONDO:0021515 A benign neoplasm that involves the ethmoid sinus. benign ethmoid sinus neoplasm benign ethmoid sinus tumor benign ethmoidal sinus neoplasm benign ethmoidal sinus tumor benign neoplasm of ethmoid sinus benign neoplasm of the ethmoid sinus benign neoplasm of the ethmoidal sinus benign tumor of ethmoid sinus benign tumor of ethmoidal sinus benign tumor of the ethmoid sinus benign tumor of the ethmoidal sinus ethmoid sinus benign neoplasm benign neoplasm of ethmoidal sinus MONDO:0021516 A benign neoplasm that involves the glottis. benign glottis neoplasm benign glottis tumor benign neoplasm of the glottis benign tumor of glottis benign tumor of the glottis glottis benign neoplasm benign neoplasm of glottis MONDO:0021517 A benign neoplasm that involves the trachea. benign neoplasm of the trachea benign trachea neoplasm benign trachea tumor benign tracheal neoplasm benign tracheal tumor benign tumor of the trachea benign tumor of trachea trachea benign neoplasm benign neoplasm of trachea MONDO:0021518 A benign neoplasm that involves the hard palate. benign hard palate neoplasm benign hard palate tumor benign neoplasm of the hard palate benign tumor of hard palate benign tumor of the hard palate hard palate benign neoplasm benign neoplasm of hard palate MONDO:0021520 A benign neoplasm that involves the mouth floor. benign floor of mouth neoplasm benign floor of mouth tumor benign floor of the mouth neoplasm benign floor of the mouth tumor benign neoplasm of the floor of the mouth benign tumor of floor of mouth benign tumor of the floor of the mouth mouth floor benign neoplasm benign neoplasm of floor of mouth MONDO:0021521 A benign neoplasm that involves the mediastinum. benign mediastinal neoplasm benign mediastinal tumor benign neoplasm of the mediastinum benign tumor of mediastinum benign tumor of the mediastinum mediastinum benign neoplasm benign neoplasm of mediastinum MONDO:0021522 A benign neoplasm that involves the bone of lower jaw. bone of lower jaw benign neoplasm benign neoplasm of lower jaw bone MONDO:0021523 A benign neoplasm that involves the pharynx. benign neoplasm of the pharynx benign pharyngeal neoplasm benign pharyngeal tumor benign pharynx neoplasm benign pharynx tumor benign tumor of pharynx benign tumor of the pharynx pharyngeal neoplasm benign pharynx benign neoplasm benign neoplasm of pharynx MONDO:0021524 A benign neoplasm that involves the buccal mucosa. benign buccal mucosa neoplasm benign buccal mucosa tumor benign neoplasm of the buccal mucosa benign tumor of buccal mucosa benign tumor of the buccal mucosa buccal mucosa benign neoplasm benign neoplasm of buccal mucosa MONDO:0021525 A benign neoplasm that involves the body of uterus. benign corpus uteri neoplasm benign corpus uteri tumor benign neoplasm of body of uterus benign neoplasm of the body of uterus benign neoplasm of the corpus uteri benign neoplasm of the uterine body benign neoplasm of the uterine corpus benign neoplasm of uterine body benign neoplasm of uterine corpus benign tumor of body of uterus benign tumor of corpus uteri benign tumor of the body of uterus benign tumor of the corpus uteri benign tumor of the uterine body benign tumor of the uterine corpus benign tumor of uterine body benign tumor of uterine corpus benign uterine body neoplasm benign uterine body tumor benign uterine corpus neoplasm benign uterine corpus tumor body of uterus benign neoplasm benign neoplasm of corpus uteri MONDO:0021527 A benign neoplasm that involves the meningeal cluster. benign meningeal neoplasm benign meningeal neoplasms benign meningeal tumor benign meningeal tumors benign meninges neoplasm benign meninges tumor benign neoplasm of the meninges benign neoplasms of meninges benign neoplasms of the meninges benign tumor of meninges benign tumor of the meninges meningeal cluster benign neoplasm meningeal tumors, benign benign neoplasm of meninges MONDO:0021528 A non-metastasizing neoplasm that arises from the breast parenchyma in males. benign Male breast neoplasm benign Male breast tumor benign neoplasm of the Male breast benign tumor of Male breast benign tumor of the Male breast male breast benign neoplasm benign neoplasm of male breast MONDO:0021529 A benign neoplasm that involves the chest wall. benign chest wall neoplasm benign chest wall tumor benign neoplasm of the chest wall benign tumor of chest wall benign tumor of the chest wall chest wall benign neoplasm benign neoplasm of chest wall MONDO:0021530 A benign neoplasm that involves the subglottis. benign neoplasm of the subglottis benign subglottic neoplasm benign subglottic tumor benign subglottis neoplasm benign subglottis tumor benign tumor of subglottis benign tumor of the subglottis subglottis benign neoplasm benign neoplasm of subglottis MONDO:0021531 A fibroma that involves the lung. fibroma of the lung lung fibroma pulmonary fibroma fibroma of lung MONDO:0021532 A fibroma that involves the prostate gland. fibroma of the prostate prostate fibroma prostate gland fibroma fibroma of prostate MONDO:0021533 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small or large intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. https://github.com/monarch-initiative/mondo/issues/4207 carcinoid tumor of intestine carcinoid tumor of the intestine grade 1 neuroendocrine neoplasm of intestine intestinal NET G1 intestinal carcinoid tumor intestinal neuroendocrine tumor G1 intestine NET G1 intestine carcinoid tumor intestine carcinoid tumor (disease) intestine neuroendocrine neoplasm G1 intestine neuroendocrine tumor, well differentiated, low grade intestinal neuroendocrine tumor G1 MONDO:0021534 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. carcinoid of rectum carcinoid of the rectum carcinoid tumor of rectum carcinoid tumor of the rectum grade 1 neuroendocrine neoplasm of rectum rectal NET G1 rectal carcinoid rectal carcinoid tumor rectal neuroendocrine tumor G1 rectum NET G1 rectum carcinoid tumor rectum carcinoid tumor (disease) rectum neuroendocrine neoplasm G1 rectum neuroendocrine tumor, well differentiated, low grade rectal neuroendocrine tumor G1 MONDO:0021535 A low grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal or less than 2%. grade 1 neuroendocrine neoplasm of pancreas pancreas NET G1 pancreas carcinoid tumor pancreas neuroendocrine neoplasm G1 pancreas neuroendocrine tumor, well differentiated, low grade pancreatic NET G1 pancreatic neuroendocrine tumor G1 pancreatic neuroendocrine tumor G1 MONDO:0021537 A undifferentiated carcinoma that involves the nasopharynx. lymphoepithelioma of nasopharynx lymphoepithelioma of the nasopharynx nasopharyngeal lymphoepithelioma nasopharyngeal nonkeratinizing undifferentiated carcinoma nasopharyngeal undifferentiated carcinoma nasopharynx undifferentiated carcinoma undifferentiated carcinoma of the nasopharynx undifferentiated nasopharyngeal throat cancer undifferentiated carcinoma of nasopharynx MONDO:0021538 A verrucous carcinoma that involves the oral cavity. mouth verrucous carcinoma oral cavity verrucous cancer oral cavity verrucous carcinoma verrucous carcinoma of mouth verrucous carcinoma of the mouth verrucous carcinoma of the oral cavity verrucous carcinoma of oral cavity MONDO:0021539 A hamartoma (disease) that involves the cutaneous appendage. cutaneous appendage hamartoma (disease) skin appendage hamartoma hamartoma of skin appendage MONDO:0021540 A hamartoma (disease) that involves the lung. hamartoma of the lung lung chondroid hamartoma lung hamartoma lung hamartoma (disease) pulmonary hamartoma hamartoma of lung MONDO:0021541 A hemangioma that involves the retina. angioma of retina angioma of the retina hemangioma of the retina retina angioma retina hemangioma retinal angioma retinal hemangioma hemangioma of retina MONDO:0021542 A hemangioma that involves the optic choroid. angioma of choroid angioma of the choroid benign angioma of choroid benign angioma of the choroid benign choroid angioma benign choroid hemangioma benign hemangioma of choroid benign hemangioma of the choroid choroid angioma choroid hemangioma hemangioma of optic choroid hemangioma of the choroid hemangioma, choroid, benign optic choroid hemangioma hemangioma of choroid MONDO:0021543 A hemangioma that involves the gingiva. angioma of gingiva angioma of gum angioma of the gingiva angioma of the gum gingiva hemangioma gingival angioma gingival hemangioma gum angioma gum hemangioma hemangioma of gum hemangioma of the gingiva hemangioma of the gum hemangioma of gingiva MONDO:0021545 A benign or malignant mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle. muscle neoplasm muscle tumor myomatous neoplasm myomatous tumor neoplasm of muscle neoplasm of the muscle tumor of muscle tumor of the muscle muscle tissue neoplasm muscle tissue neoplasms myoblastoma myoblastomas myofibroblastoma myofibroblastomas neoplasm, muscle tissue myomatous neoplasm MONDO:0021546 An ependymal tumor that arises from the spinal cord. ependymal tumor of spinal cord spinal cord ependymal tumor ependymal tumor of spinal cord MONDO:0021547 AI3B amelogenesis imperfecta, type 3B amelogenesis imperfecta, type IIIB amelogenesis imperfecta type 3B MONDO:0021548 CCT cataract, total congenital cataract, total congenital with posterior sutural opacities in heterozygotes total early-onset cataract MONDO:0021553 https://github.com/monarch-initiative/mondo/issues/4614 transverse myelitis transverse myelopathy syndrome Myelitis, Transverse Transverse Myelitis Transverse Myelopathy Syndrome Transverse Myelopathy Syndromes Transverse myelitis Transverse myelopathy syndrome transverse myelitis MONDO:0021559 Hemolytic anemia that is not mediated by immune mechanisms. non-autoimmune hemolytic anemia Non-Autoimmune Hemolytic Anemia Non-autoimmune hemolytic anemia non-autoimmune hemolytic anemia MONDO:0021562 Inflammation of the umbilical cord stump in newborns. omphalitis Omphalitis omphalitis MONDO:0021568 A disease that involves the renal tubule. disease of renal tubule disease or disorder of renal tubule disorder of renal tubule renal tubular disease renal tubular disorder renal tubule disease renal tubule disease or disorder renal tubule disorder MONDO:0021569 Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene. EDMD2 Emery-Dreifuss muscular dystrophy 2, autosomal dominant Hauptmann-Thannhauser muscular dystrophy LGMD1B LMNA autosomal dominant limb-girdle muscular dystrophy autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA autosomal dominant limb-girdle muscular dystrophy type 1B limb-girdle muscular dystrophy due to lamin A/C deficiency muscular dystrophy, limb-girdle type 1B proximal muscular dystrophy type 1B EMD2 Emery-Dreifuss muscular dystrophy, autosomal dominant benign scapuloperoneal muscular dystrophy with cardiomyopathy limb-girdle muscular dystrophy type 1B muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant muscular dystrophy, limb-girdle, type 1B muscular dystrophy, proximal, type 1B scapuloilioperoneal atrophy with cardiopathy Emery-Dreifuss muscular dystrophy 2, autosomal dominant https://rarediseases.info.nih.gov/diseases/10230/limb-girdle-muscular-dystrophy-type-1b MONDO:0021571 https://github.com/monarch-initiative/mondo/issues/4521 MS1 multiple sclerosis, disease progression, modifier of multiple sclerosis, susceptibility to, 1 MS disseminated sclerosis multiple sclerosis, susceptibility to susceptibility to multiple sclerosis multiple sclerosis, susceptibility to 1 MONDO:0021573 Any inherited oocyte maturation defect in which the cause of the disease is a mutation in the TUBB8 gene. OOMD2 TUBB8 inherited oocyte maturation defect inherited oocyte maturation defect caused by mutation in TUBB8 oocyte maturation defect 2 oocyte maturation defect 2 MONDO:0021574 OOMD3 oocyte maturation defect 3 oocyte maturation defect 3 MONDO:0021575 OOMD4 oocyte maturation defect 4 oocyte maturation defect 4 MONDO:0021576 A benign, borderline, or malignant epithelial tumor of the fallopian tube that is characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells. endometrium neoplasm of fallopian tube fallopian tube endometrioid neoplasm fallopian tube endometrioid tumor fallopian tube endometrium neoplasm fallopian tube endometrioid tumor MONDO:0021577 malignant neuroma of mediastinum malignant mediastinal neural neoplasm MONDO:0021578 A benign or malignant neoplasm that affects the sternum. neoplasm of sternum neoplasm of sternum (disease) neoplasm of sternum (disorder) neoplasm of the sternum sternal neoplasm sternal tumor sternum neoplasm sternum neoplasm (disease) sternum tumor tumor of sternum tumor of the sternum sternal neoplasm MONDO:0021579 A neoplasm (disease) that involves the femur. femur neoplasm femur neoplasm (disease) femur tumor neoplasm of femur tumor of femur neoplasm of femur MONDO:0021580 A neoplasm (disease) that involves the jaw skeleton. jaw skeleton neoplasm jaw skeleton neoplasm (disease) jaw skeleton tumor neoplasm of jaw skeleton tumor of jaw skeleton neoplasm of jaw MONDO:0021581 Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue. connective tissue neoplasm connective tissue neoplasm (disease) connective tissue tumor neoplasm of connective tissue neoplasm of connective tissues tumor of connective tissue tumour of connective tissue connective tissue neoplasms neoplasm, connective tissue connective tissue neoplasm MONDO:0021582 A flat, benign, pigmented spot on the skin caused by excessive deposition of melanin from an increased number of melanocytes in the cell layer directly above the basement membrane of the epidermis. Formation is usually related to sun exposure during youth, and the lesions do not typically progress to malignancy. https://github.com/monarch-initiative/mondo/issues/3692 lentigines lentiginosis lentigo Excluded benign neoplasm as a subclass because NCIT classifies as non-neoplastic. lentigo MONDO:0021583 A melanocytic neoplasm that involves the zone of skin. cutaneous melanocytic neoplasm melanocytic neoplasm of skin melanocytic neoplasm of zone of skin melanocytic skin neoplasm zone of skin melanocytic neoplasm melanocytic skin neoplasm MONDO:0021588 A sebaceous gland carcinoma affecting the eyelid. It arises from the meibomian glands, glands of Zeis, or glands associated with the caruncle. It usually affects elderly women and is characterized by high rate of local recurrence, regional, and distant metastases. carcinoma of sebaceous gland of eyelid eyelid SGC eyelid sebaceous gland carcinoma sebaceous gland carcinoma of the eyelid sebaceous gland of eyelid carcinoma eyelid sebaceous gland carcinoma MONDO:0021605 A non-metastasizing neoplasm that arises from the upper or lower eyelid. benign eyelid neoplasm benign eyelid tumor benign neoplasm of eyelid benign neoplasm of the eyelid benign tumor of eyelid benign tumor of the eyelid eyelid benign neoplasm benign eyelid neoplasm MONDO:0021607 A seborrheic keratosis that involves the eyelid. basal cell papilloma of eyelid basal cell papilloma of the eyelid eyelid basal cell papilloma eyelid seborrheic keratosis seborrheic keratosis of eyelid seborrheic keratosis of the eyelid eyelid seborrheic keratosis MONDO:0021627 A capillary hemangioma arising from the eyelid. capillary angioma of eyelid capillary angioma of lid capillary angioma of the eyelid capillary angioma of the lid capillary hemangioma of eyelid capillary hemangioma of lid capillary hemangioma of the eyelid capillary hemangioma of the lid eyelid capillary angioma eyelid capillary hemangioma eyelid capillary hemangioma MONDO:0021629 A benign, borderline, or malignant neoplasm that affects the uterine ligaments. Representative examples include Wolffian adnexal tumor, papillary cystadenoma, and adenocarcinoma. neoplasm of the uterine ligament neoplasm of uterine ligament tumor of the uterine ligament tumor of uterine ligament uterine ligament neoplasm uterine ligament neoplasm (disease) uterine ligament tumor uterine ligament neoplasm MONDO:0021630 A lipoma that involves the face. face lipoma lipoma of face MONDO:0021631 A astrocytoma (excluding glioblastoma) that involves the brain. astrocytoma (excluding glioblastoma) of brain brain astrocytoma brain astrocytoma (excluding glioblastoma) brain astrocytoma MONDO:0021632 primary brain neoplasm primary brain tumor primary brain neoplasm MONDO:0021633 An astrocytoma that arises from the cerebral hemispheres. astrocytoma (excluding glioblastoma) of cerebral hemisphere astrocytoma of cerebral hemispheres astrocytoma of cerebrum astrocytoma of the cerebral hemispheres astrocytoma of the cerebrum cerebral astrocytoma cerebral hemisphere astrocytoma (excluding glioblastoma) cerebral hemispheric astrocytoma cerebral astrocytoma MONDO:0021634 A epithelial neoplasm that involves the zone of skin. epithelial skin neoplasm epithelial skin tumor skin epithelium neoplasm skin epithelium tumor zone of skin epithelial neoplasm epithelial skin neoplasm MONDO:0021635 That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage. disorder of neural crest cell development disorder of neural crest development neural crest cell development disease neurocristopathy MONDO:0021636 A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma. astrocytic neoplasm astrocytic tumor astrocytoma of brain astrocytoma, no ICD-O subtype astroglioma astrocytoma astrocytoma of cerebrum This class encompasses astrocytomas proper as well as GBM. See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/23 astrocytic tumor MONDO:0021637 A grade I or grade II glioma arising from the central nervous system. This category includes pilocytic astrocytoma, diffuse astrocytoma, subependymal giant cell astrocytoma, ependymoma, oligodendroglioma, oligoastrocytoma, and angiocentric glioma. low grade glioma low-grade glioma low grade glioma MONDO:0021638 A grade I or grade II astrocytic tumor. This category includes pilocytic astrocytoma (grade I), subependymal giant cell astrocytoma (grade I), and diffuse astrocytoma (grade II). low grade astrocytic neoplasm low grade astrocytic tumor low-grade astrocytic neoplasm low-grade astrocytic tumor low grade astrocytic tumor MONDO:0021639 A glioma arising from the central nervous system. This category includes diffuse astrocytoma, ependymoma, oligodendroglioma, and oligoastrocytoma. WHO grade II glioma grade II glioma grade II glioma MONDO:0021640 A group of malignant gliomas that includes anaplastic astrocytoma, anaplastic oligodendroglioma, anaplastic oligoastrocytoma, and anaplastic ependymoma. WHO grade III glioma anaplastic glioma grade III glioma MONDO:0021641 Virus diseases caused by the bunyaviridae. Bunyaviridae caused disease or disorder Bunyaviridae disease or disorder Bunyaviridae infectious disease disease due to Bunyaviridae Bunyaviridae infection Bunyavirus infection Bunyavirus infections disease caused by Bunyaviridae disease caused by Bunyavirus disease due to Bunyavirus infections, Bunyaviridae infections, Bunyavirus Bunyaviridae infectious disease MONDO:0021642 A varicose disease that involves the mammalian vulva. mammalian vulva varicose disease varicose disease of mammalian vulva vulval varices MONDO:0021643 A varicose disease that involves the mesentery. mesentery varicose disease varicose disease of mesentery mesenteric varices MONDO:0021644 esophageal varices without bleeding esophageal varices without bleeding MONDO:0021645 esophageal varices with bleeding MONDO:0021650 An epithelial neoplasm with neuroendocrine differentiation that arises from the uterine corpus. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma. body of uterus NET body of uterus neuroendocrine neoplasm body of uterus neuroendocrine tumor body of uterus neuroendocrine tumor, well differentiated, low or intermediate grade neuroendocrine neoplasm of body of uterus uterine corpus neuroendocrine neoplasm uterine corpus neuroendocrine tumor uterine corpus neuroendocrine neoplasm MONDO:0021651 A joint presentation of syndactyly (fusion of digits) and polydactyly (production of supernumerary digits). https://github.com/monarch-initiative/mondo/issues/3919 polysyndactyly syndactyly type 2 synpolydactyly SPD synpolydactyly MONDO:0021652 An adenocarcinoma characterized by the presence of a diffuse cellular infiltrate which is composed of poorly cohesive cells with minimal or no glandular formations. Representative example is the gastric diffuse adenocarcinoma. diffuse type adenocarcinoma diffuse type carcinoma diffuse type adenocarcinoma MONDO:0021653 focal mucinoses focal mucinosis cutaneous focal mucinosis MONDO:0021654 diffuse cutaneous mucinosis MONDO:0021655 secondary catabolic mucinosis of skin MONDO:0021656 A term that refers to teratoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, or mixed forms of these tumors. Nongerminomatous germ cell tumor Nongerminomatous germ cell tumor Including central nervous system non-dysgerminomatous germ cell tumor non-germinomatous germ cell tumor non-seminomatous germ cell tumor NSGCT nongerminomatous germ cell tumor MONDO:0021657 A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. Representative examples include thecoma, fibroma, Sertoli cell tumor, and granulosa cell tumor. Sex cord-stromal neoplasm of ovary Sex cord-stromal neoplasm of the ovary Sex cord-stromal tumor of ovary Sex cord-stromal tumor of the ovary ovarian Sex cord-stromal neoplasm ovarian Sex cord-stromal tumor ovary sex cord-stromal tumor sex cord-stromal tumor of ovary ovarian sex cord tumor with annular tubules sex cord stromal tumor ovarian sex cord-stromal tumor MONDO:0021658 vascular ectasia vascular ectasia MONDO:0021659 A malignant epithelial neoplasm composed of a mixture of neuroendocrine cells with morphologic and immunohistochemical characteristics of carcinoid tumor and malignant glandular cells. adenocarcinoid neoplasm adenocarcinoid tumor combined carcinoid and adenocarcinoma combined carcinoid neoplasm and adenocarcinoma combined carcinoid tumor and adenocarcinoma composite carcinoid composite carcinoid neoplasm composite carcinoid tumor mixed carcinoid neoplasm mixed carcinoid tumor combined carcinoid and adenocarcinoma MONDO:0021660 A deep folliculitis due to a cutaneous dermatophyte infection, usually on the legs. It is most commonly caused by trichophyton rubrum and is characterized by the formation of spongy granulomas which persist for three to four months and leaves deep scars. https://github.com/monarch-initiative/mondo/issues/4128 deep dermatophytosis deep seated dermatophytosis disseminated granulomatous dermatophytosis deep seated dermatophytosis MONDO:0021661 Atherosclerosis of the coronary vasculature. atherosclerosis of coronary artery arteriosclerosis disorder of coronary artery coronary artery arteriosclerosis (disease) coronary artery arteriosclerosis disorder coronary atherosclerosis coronary atherosclerosis MONDO:0021662 A benign or malignant neoplasm that affects the intrahepatic or extrahepatic bile ducts. Representative examples of benign neoplasms include bile duct adenoma and extrahepatic bile duct lipoma. Representative examples of malignant neoplasms include intrahepatic and extrahepatic cholangiocarcinoma. bile duct neoplasm bile duct neoplasm (disease) bile duct tumor intrahepatic and extrahepatic bile duct neoplasm intrahepatic and extrahepatic bile duct tumor neoplasm of bile duct tumor of bile duct bile duct neoplasm MONDO:0021663 A poorly differentiated squamous cell carcinoma characterized by the presence of malignant cells with spindle cell features. epidermoid spindle cell carcinoma sarcomatoid squamous cell carcinoma spindle cell (sarcomatoid) squamous cell carcinoma squamous cell carcinoma, sarcomatoid squamous cell carcinoma, spindle cell squamous cell spindle cell carcinoma sarcomatoid squamous cell carcinoma MONDO:0021666 A viral or bacterial infection that affects the external, middle, or inner ear. It may follow an upper respiratory infection. Signs and symptoms include pain, ear discharge, ear fullness, hearing loss, vertigo, nausea, and vomiting. Ear infection otitis ear infection MONDO:0021667 A pain disorder characterize by pain in the distribution of a nerve or nerves neuralgia pain, nerve pain, neuropathic paroxysmal nerve pain paroxysmal nerve pains neuralgia MONDO:0021669 A disorder that follows infection but is distinct from the infection itself and its usual manifestations. sequela of infectious disorder post-infectious disorder MONDO:0021670 post-infectious syndrome MONDO:0021673 post-bacterial disorder MONDO:0021674 A post-infectious disorder that follows viral infection but is distinct from the viral infection itself and its usual manifestations. https://github.com/monarch-initiative/mondo/issues/2950 sequela of viral disease post-viral disorder MONDO:0021677 postinfectious neuralgia post-infectious neuralgia MONDO:0021678 Infections caused by bacteria that show up as pink (negative) when treated by the gram-staining method. bacterial infection, gram-negative bacterial infections, gram negative bacterial infections, gram-negative gram negative bacterial infections gram-negative bacterial infection infection, gram-negative bacterial infections, gram negative bacterial infections, gram-negative bacterial Editor note: this does not correspond to a taxonomic grouping, so classification is manual for now gram-negative bacterial infections MONDO:0021679 Infections caused by bacteria that retain the crystal violet stain (positive) when treated by the gram-staining method. Gram Positive bacterial infections Gram-positive bacterial infection bacterial infection, Gram-positive bacterial infections, Gram Positive bacterial infections, Gram-positive infection, Gram-positive bacterial infections, Gram Positive bacterial infections, Gram-positive bacterial Editor note: this does not correspond to a taxonomic grouping, so classification is manual for now gram-positive bacterial infections MONDO:0021680 Any of the several infectious disorders caused by members of streptococcus, a genus of gram positive bacteria belonging to the family Streptococcaceae. Streptococcal infections are classified into Groups A, B, C, D and G. Streptococcus caused disease or disorder Streptococcus disease or disorder Streptococcus infectious disease streptococcal infection infection, streptococcal infections, streptococcal streptococcal infection MONDO:0021681 A Disease due to or propagated by sexual contact. STD VD VD, venereal disease disease (VD), venereal sexually Transmitted disorder sexually transmitted disease venereal disease (VD) STDs STI STIs Transmitted infection, sexually Transmitted infections, sexually disease, sexually Transmitted disease, venereal diseases, sexually Transmitted diseases, venereal infection, sexually Transmitted infections, sexually Transmitted sexually Transmitted infection sexually Transmitted infections venereal disease venereal diseases sexually transmitted disease MONDO:0021682 Viral diseases which are potentially transmitted or propagated by sexual conduct. viral sexually transmitted disease disease, viral venereal diseases, viral venereal sexually Transmitted disease, viral venereal disease, viral venereal diseases, viral viral sexually Transmitted diseases viral venereal disease viral venereal diseases viral sexually transmitted disease MONDO:0021697 Infections with bacteria of the genus CHLAMYDIA. Chlamydia caused disease or disorder Chlamydia disease or disorder Chlamydia infectious disease Chlamydophila caused disease or disorder Chlamydophila disease or disorder chlamydia infectious disease Chlamydia infection infection, Chlamydia infections, Chlamydia chlamydia infectious disease MONDO:0021698 Disorders related to or resulting from abuse or mis-use of alcohol. alcohol related disorders alcohol-related disorder disorder, alcohol-related disorders, alcohol-related alcohol-related disorders MONDO:0021699 Disorders stemming from the misuse and abuse of alcohol. alcohol induced disorders alcohol-induced disorder alcohol-induced disorders MONDO:0021702 A mental disorder associated with chronic ethanol abuse (ALCOHOLISM) and nutritional deficiencies characterized by short term memory loss, confabulations, and disturbances of attention. (Adams et al., Principles of Neurology, 6th ed, p1139) Dysmnesic psychoses, alcohol-induced Dysmnesic psychosis, alcohol-induced Dysmnesic syndrome, alcohol-induced Dysmnesic syndromes, alcohol-induced Korsakoff syndrome, alcohol-induced Korsakoff syndrome, alcoholic Korsakoff syndromes, alcohol-induced Korsakoff syndromes, alcoholic alcohol amnestic disorders alcohol amnestic syndrome alcohol amnestic syndromes alcohol induced Dysmnesic psychosis alcohol induced Dysmnesic syndrome alcohol induced Korsakoff syndrome alcohol induced amnestic psychosis alcohol induced amnestic syndrome alcohol induced persisting amnestic disorder alcohol-induced Dysmnesic psychoses alcohol-induced Dysmnesic psychosis alcohol-induced Dysmnesic syndrome alcohol-induced Dysmnesic syndromes alcohol-induced Korsakoff syndrome alcohol-induced Korsakoff syndromes alcohol-induced amnestic psychoses alcohol-induced amnestic psychosis alcohol-induced amnestic syndrome alcohol-induced amnestic syndromes alcohol-induced persisting amnestic disorder alcoholic Korsakoff syndrome alcoholic Korsakoff syndromes amnestic disorder, alcohol amnestic disorders, alcohol amnestic psychoses, alcohol-induced amnestic psychosis, alcohol induced amnestic psychosis, alcohol-induced amnestic syndrome, alcohol amnestic syndrome, alcohol-induced amnestic syndromes, alcohol amnestic syndromes, alcohol-induced psychoses, alcohol-induced Dysmnesic psychoses, alcohol-induced amnestic psychosis, alcohol-induced Dysmnesic psychosis, alcohol-induced amnestic syndrome, alcohol amnestic syndrome, alcohol-induced Dysmnesic syndrome, alcohol-induced Korsakoff syndrome, alcohol-induced amnestic syndrome, alcoholic Korsakoff syndromes, alcohol amnestic syndromes, alcohol-induced Dysmnesic syndromes, alcohol-induced Korsakoff syndromes, alcohol-induced amnestic syndromes, alcoholic Korsakoff alcohol amnestic disorder MONDO:0021718 Inflammation of several peripheral nerves. polyneuritis Inflammatory polyneuropathy Multiple neuritis Polyneuritides Polyneuritis inflammatory polyneuropathy polyneuritis MONDO:0021722 Vulvodynia is a chronic pain syndrome that affects the vulvar area and occurs without an identifiable cause. Symptoms typically include a feeling of burning or irritation. For the diagnosis to be made symptoms must last at least 3 months. vulvodynia vulvodynia MONDO:0021723 Tightness of the vaginal wall during vaginal penetration including sexual intercourse. It is caused by involuntary spasm of the pelvic floor muscles, and results in painful intercourse or failure to have intercourse. It may due to psychological conditions, trauma in the vaginal area, or vaginal infection. myalgia of pelvic floor vaginismus vaginismus MONDO:0021726 Abdominal cystic lymphangioma is a benign (noncancerous) malformation of the lymphatic vessels in the abdomen. These vessels carry lymph, a fluid that contains white blood cells that fight infection, throughout the body. The severity of the condition and the associated features vary from person to person. When present, signs and symptoms may include abdominal pain, an increase in waist circumference, an abdominal mass, intestinal obstruction, and/or volvulus (a twisting of the intestines). The cause of abdominal cystic lymphangioma is poorly understood; however, scientists suspect that it is a congenital anomaly. Most cases are diagnosed in people with no family history of the condition. Treatment varies based on the severity of the condition. People with small malformations that do not cause any symptoms may simply be followed with regular imaging studies to monitor for progression. Some of these cases may resolve spontaneously without treatment. When necessary, surgical excision is often the treatment of choice since it is associated with the lowest risk of recurrence.. abdomen cystic lymphangioma RCL abdominal retroperitoneal lymphangioma retroperitoneal cystic lymphangioma abdominal cystic lymphangioma https://rarediseases.info.nih.gov/diseases/439/abdominal-cystic-lymphangioma MONDO:0021727 Aberrant subclavian artery is a rare vascular anomaly that is present from birth. It usually causes no symptoms and is oftendiscovered as an incidental finding (such as througha barium swallow or echocardiogram). Occasionally the anomaly causes swallowing difficulty (dysphagia lusoria). Swallowing symptoms in childrenmay present asfeeding difficulty and/or recurrent respiratory tract infection. When aberrant subclavian artery causes no symptoms, treatment is not needed. If the anomaly is causing significant symptoms, treatment may involve surgery. Children with symptomatic aberrant subclavian artery should be carefully evaluated for additional vascular and heart anomalies.. aberrant subclavian artery congenital malposition of subclavian artery aberrant left subclavian artery aberrant right subclavian artery congenital malpositioned subclavian artery aberrant subclavian artery https://rarediseases.info.nih.gov/diseases/5706/aberrant-subclavian-artery MONDO:0021736 Inflammation of the sigmoid colon and rectum. proctosigmoiditis Proctosigmoiditis Rectosigmoiditis rectosigmoiditis proctosigmoiditis MONDO:0021739 A name applied to several itchy skin eruptions of unknown cause. The characteristic course is the formation of a dome-shaped papule with a small transient vesicle on top, followed by crusting over or lichenification. (From Dorland, 27th ed) prurigo pruritic rash Itchy skin eruption Prurigo Pruritic rash itchy skin eruption prurigo MONDO:0021742 An infection occurring in puerperium, the period of 6-8 weeks after giving birth. Infection, Puerperal Infections, Puerperal Puerperal Infection Puerperal Infections puerperal infection MONDO:0021745 A growth disorder that is observed between the ages of 2 and 15, caused by extreme emotional deprivation or stress. Kaspar Hauser syndrome abuse dwarfism syndrome child abuse dwarfism psychosocial dwarfism psychosocial short stature https://rarediseases.info.nih.gov/diseases/9440/psychosocial-short-stature MONDO:0021746 Cystopyelitis Pyelocystitis pyelocystitis MONDO:0021747 A infectious disease involving the Acanthamoeba. Acanthamoeba infection infection by Acanthamoeba acanthamoebiasis acanthamoebosis infection caused by Acanthamoeba infections, Acanthamoeba Acanthamoeba infectious disease MONDO:0021750 Pus within the collecting system of the kidney. pyonephrosis Hydronephrosis, Infected Infected Hydronephrosis Pyonephrosis pyonephrosis MONDO:0021752 Achard–Thiers syndrome combines the features of adrenogenital syndrome and Cushing syndrome. It occurs mainly in post-menopausal women Achard Thiers syndrome diabetes in bearded women diabetic-bearded woman syndrome Achard-Thiers syndrome https://rarediseases.info.nih.gov/diseases/5709/achard-thiers-syndrome MONDO:0021758 Agranulocytosis that is autoimmune in origin. agranulocytic angina agranulocytosis, acquired granulocytopenia, primary neutropenia, malignant acquired agranulocytosis https://rarediseases.info.nih.gov/diseases/5717/acquired-agranulocytosis MONDO:0021759 Acquired fructose intolerance is a condition in which the body can not properly absorb the sugar, fructose. As a result, affected people may experience gastrointestinal symptoms, such as gas, abdominal pain, bloating and/or diarrhea, depending on the quantity of fructose consumed and the presence of other sugars ingested with it. Gastrointestinal symptoms related to acquired fructose intolerance appear to be more common in people who have an underlying functional bowel disorder such as irritable bowel syndrome. The underlying cause of the condition is poorly understood. It is distinct from the rare, genetic form of fructose intolerance (called hereditary fructose intolerance), which usually develops earlier in life and often affects more than one family member. Acquired fructose intolerance is generally managed with dietary modifications. acquired fructose intolerance dietary fructose intolerance fructose malabsorption intestinal fructose intolerance acquired fructose intolerance https://rarediseases.info.nih.gov/diseases/2399/acquired-fructose-intolerance MONDO:0021761 An erythrocytic disorder that is characterized by macrocytosis and megaloblastic changes of the bone marrow cells, with additional morphological defects of hands and feet. acral dysostosis dyserythropoiesis syndrome https://rarediseases.info.nih.gov/diseases/478/acral-dysostosis-dyserythropoiesis-syndrome MONDO:0021762 A severe, dysmorphic condition is characterized by shortening of median and distal segments of the limbs without anomalies of the spine. acro-coxo-mesomelic dwarfism acrocoxomesomelic dysplasia https://rarediseases.info.nih.gov/diseases/483/acro-coxo-mesomelic-dysplasia MONDO:0021764 Acrofacial dysostosis with pre-and postaxial involvement; a postaxial defect of the right, and a preaxial defect of the left hand. This is an n-of-1 use case where only one patient or family has been described with this disorder. acrofacial dysostosis Preis type https://rarediseases.info.nih.gov/diseases/495/acrofacial-dysostosis-preis-type MONDO:0021765 An inflammatory process affecting a nerve root. Patients experience pain radiating along a nerve path because of spinal pressure on the nerve root that connects to the nerve path. radiculitis Inflammation, Nerve Root Nerve Root Inflammation Nerve Root Inflammations Radiculitides Radiculitis radiculitis MONDO:0021777 Pancarditis, involving inflammation of the endocardium, myocardium, and epicardium. It results from an autoimmune reaction following an infection with Streptococcus pyogenes (Group A Streptococci). acute rheumatic heart disease Active rheumatic fever with heart involvement active rheumatic fever with heart involvement acute Rheumatic Heart Disease acute rheumatic carditis acute rheumatic fever with heart involvement acute rheumatic heart disease MONDO:0021783 Inflammation of the throat due to Streptococcus pyogenes. strep throat streptococcal pharyngitis Septic sore throat Strep throat Strept throat Streptococcal Pharyngitis Streptococcal angina Streptococcal pharyngitis Streptococcal sore throat streptococcal sore throat MONDO:0021804 Tuberculosis caused by the infection of Mycobacterium tuberculosis in patients with silicosis (that is caused by inhalation of silica dust particles). The risk of a patient with silicosis developing pulmonary tuberculosis and extra-pulmonary tuberculosis is higher than in healthy population. silicotuberculoses silicotuberculosis silicotuberculosis MONDO:0021805 acromesomelic dysplasia Campailla Martinelli type mesomelic dwarfism Campailla-Martinelli type acromesomelic dysplasia, Campailla Martinelli type https://rarediseases.info.nih.gov/diseases/505/acromesomelic-dysplasia-campailla-martinelli-type MONDO:0021808 A primary dysautonomia characterized by hypohidrosis and selective parasympathetic peripheral autonomic nerve disturbances of acute onset. ACD acute cholinergic dysautonomia https://rarediseases.info.nih.gov/diseases/9394/acute-cholinergic-dysautonomia MONDO:0021809 Disorders of the autonomic nervous system occurring as a primary condition. Manifestations can involve any or all body systems but commonly affect the blood pressure and heart rate. primary dysautonomia Dysautonomias Dysautonomias, primary dysautonomia dysautonomia, primary primary dysautonomia MONDO:0021811 Acute mountain sickness is characterized by altitude sickness that affects otherwise healthy persons, develops within hours after arriving at altitude, and results in functional impairment from symptoms that may include headache, anorexia, nausea, vomiting, dizziness, fatigue, and sleep disturbances. acute mountain sickness Mountain sickness acosta's disease altitude anoxia altitude sickness high altitude cerebral edema high altitude pulmonary edema soroche acute mountain sickness https://rarediseases.info.nih.gov/diseases/5730/acute-mountain-sickness MONDO:0021812 A benign sweat gland neoplasm usually occurring in the scalp or the face. It may present as solitary or multiple papular or nodular lesions. It may be a sporadic lesion or part of Brooke-Spiegler syndrome. It arises from the dermis and has a multinodular, circumscribed appearance. The nodules contain basaloid cells with small, dark nuclei. Complete excision is usually curative. cylindroma cylindroma of skin cylindroma of the skin dermal cylindroma adnexal sweat gland spiradenoma/cylindroma Editor note: See GARD:0010464 adnexal spiradenoma/cylindroma of a sweat gland https://rarediseases.info.nih.gov/diseases/8641/adnexal-spiradenomacylindroma-of-a-sweat-gland MONDO:0021824 A progressive muscle weakness and atrophy of the limbs that irregularly affects certain muscles, while it spares others. Aran Duchenne spinal muscular atrophy adult SMA Aran Duchenne type adult progressive spinal muscular atrophy Aran Duchenne type adult progressive spinal muscular atrophy, Aran Duchenne type https://rarediseases.info.nih.gov/diseases/9132/adult-progressive-spinal-muscular-atrophy-aran-duchenne-type MONDO:0021826 Infection with the less common aerobic antinomyces bacteria. aerobic Actinomyces infection https://rarediseases.info.nih.gov/diseases/9779/aerobic-actinomyces-infection MONDO:0021829 Plurimalformative syndrome agnathia, microstomia, synotia and cardiac and pulmonary maldevelopment agnathia-microstomia-synotia https://rarediseases.info.nih.gov/diseases/10125/agnathia-microstomia-synotia MONDO:0021834 A syndrome characterized by frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromelia. frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromelia Akaba Hayasaka syndrome https://rarediseases.info.nih.gov/diseases/577/akaba-hayasaka-syndrome MONDO:0021836 A syndrome characterized by a malformations of the neck due to a branchial arch defect. In the neonatal period the following signs were noted: symmetrical preauricular pits, retroauricular additional rudimentary auricles, a blindly ending coccygeal groove, microstomia and papillomata of the hypopharynx. This is an n-of-1 use case where only one patient or family has been described with this disorder. aksu von stockhausen syndrome hereditary branchial arch defects Aksu von Stockhausen syndrome https://rarediseases.info.nih.gov/diseases/579/aksu-von-stockhausen-syndrome MONDO:0021838 A disease characterized by cherubism (disorder characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths.), visual impairment due to optic atrophy and short stature. This is an n-of-1 use case where only one patient or family has been described with this disorder. cherubism, optic atrophy and short stature Al Gazali Khidr Prem Chandran syndrome https://rarediseases.info.nih.gov/diseases/586/al-gazali-khidr-prem-chandran-syndrome MONDO:0021839 Infections with bacteria of the order SPIROCHAETALES. INFECT SPIROCHAETALES INFECT SPIROCHETE Infection, Spirochaetales Infection, Spirochete Infections, Spirochaetales Infections, Spirochete SPIROCHAETALES INFECT SPIROCHETE INFECT Spirochaetales Infection Spirochaetales Infections Spirochetal infection Spirochete Infection Spirochete Infections Spirochetosis spirochaetales infections MONDO:0021845 A syndrome characterized by a unilateral linear basal cell nevus, diffuse osteoma cutis, unilateral anodontia (missing teeth), and abnormal bone mineralization. This is an n-of-1 use case where only one patient or family has been described with this disorder. https://github.com/monarch-initiative/mondo/issues/3700 basal cell nevus anodontia abnormal bone mineralization basal cell nevus, anodontia, abnormal bone mineralization unilateral linear basal cell nevus associated with diffuse osteoma cutis, unilateral anodontia, and abnormal bone mineralization Aloi Tomasini Isaia syndrome https://rarediseases.info.nih.gov/diseases/417/aloi-tomasini-isaia-syndrome MONDO:0021851 A syndrome characterized by total alopecia (hair loss), total vitíligo, and nail changes. The nail changes consist of fine pitting, associated with softness, and friability and may include horizontal splitting. The vitiligo is characterized by complete, rapid uniform loss of pigment which occurrs without going through a patchy state. The entire cutaneous surface is light and translucent-appearing and is prone to burning on exposure to the sun. alopecia universalis, onychodystrophy, and total vitiligo alopecia universalis onychodystrophy vitiligo https://rarediseases.info.nih.gov/diseases/615/alopecia-universalis-onychodystrophy-vitiligo MONDO:0021856 An autosomal recessive, oculo-reno-skeletal syndrome characterized by bilateral atypical macular coloboma, familial juvenile nephronophthisis and mesomelic skeletal dysplasia of upper limbs with bilateral radiohumeral fusion. atypical macular coloboma, familial juvenile nephronophthisis and skeletal abnormality Alsing syndrome https://rarediseases.info.nih.gov/diseases/9213/alsing-syndrome MONDO:0021879 A histologic variant of anaplastic large cell lymphoma characterized by the presence of a predominant population of small to medium size malignant cells with irregular nuclei. small cell variant anaplastic large cell lymphoma small cell variant of anaplastic large cell lymphoma anaplastic small cell lymphoma small cell variant anaplastic large cell lymphoma https://rarediseases.info.nih.gov/diseases/9477/anaplastic-small-cell-lymphoma MONDO:0021895 A common disorder noted with jaw movement. It may be caused by malocclusion, repetitive use injury, trauma or arthritis. It is more prevalent among females between their second and fourth decades. Clinical signs include preauricular pain, temporomandibular joint clicking (as the mandibular condyle slips from the articulation made with the capsular disc and temporal bone) and restriction of jaw motion. Clinical course is typically benign but may progress to associated headaches, ear and neck pain, tinnitus and dislocation of temporomandibular joint. Prognosis is favorable as a majority of cases will respond to conservative management. temporomandibular joint dysfunction syndrome Costen Syndrome Costen's Syndrome Costen's complex Costen's syndrome Costens Syndrome Joint Syndrome, Temporomandibular Mandibular dysfunction Myofascial Pain Dysfunction Syndrome, Temporomandibular Joint Myofascial pain - dysfunction syndrome of TMJ Snapping jaw Syndrome, Costen's Syndrome, TMJ Syndrome, Temporomandibular Joint TMJ Syndrome TMJ syndrome TMJPDS - Temporomandibular joint pain dysfunction syndrome Temporomandibular Joint Dysfunction Syndrome Temporomandibular Joint Syndrome Temporomandibular joint pain dysfunction syndrome Temporomandibular joint syndrome Temporomandibular joint-pain-dysfunction syndrome temporomandibular joint dysfunction syndrome MONDO:0021896 anterior spinal artery stroke https://rarediseases.info.nih.gov/diseases/9653/anterior-spinal-artery-stroke MONDO:0021902 A rare, congenital anomaly in the aorta in which a communication exists between the ascending aorta and the pulmonary artery. AP window APSD APW aortopulmonary septal defect aortopulmonary window aortic-pulmonary window aorto-pulmonary window Editor note: NCIT treats as disease but consider obsoleting in favor og HP aortopulmonary window https://rarediseases.info.nih.gov/diseases/745/aortopulmonary-window MONDO:0021905 apert like polydactyly syndrome apert-like polydactyly syndrome https://rarediseases.info.nih.gov/diseases/746/apert-like-polydactyly-syndrome MONDO:0021907 Aplasia cutis with autosomal recessive inheritance. aplasia cutis autosomal recessive https://rarediseases.info.nih.gov/diseases/749/aplasia-cutis-autosomal-recessive MONDO:0021908 Aplasia cutis congenita with with autosomal dominant inheritance with reduced penetrance. aplasia cutis congenita dominant https://rarediseases.info.nih.gov/diseases/751/aplasia-cutis-congenita-dominant MONDO:0021913 Aquagenic pruritus is a conditionin which contact with water of any temperature causes intense itching, without any visible skin changes. The symptoms may begin immediately after contact and can last for an hour or more. The cause of aquagenic pruritus is unknown; however, familial cases have been described. It may be a symptom of polycythemia vera or another underlying condition. Overall, treatment is a challenge. Antihistamines, UVB phototherapy, PUVA therapy and various medications have been tried with varying degrees of success. aquagenic pruritus water-induced itching aquagenic pruritus https://rarediseases.info.nih.gov/diseases/10278/aquagenic-pruritus MONDO:0021915 A rare autosomal dominant inherited metabolic disorder characterized by deficiency of the enzyme tetrahydrofolate-methyltransferase. It results in the abnormal metabolism of methylcobalamin. Signs and symptoms include mental retardation, megaloblastic anemia, hypotonia, epilepsy, and hepatosplenomegaly. Arakawa syndrome II Arakawa's syndrome 2 Arakawa's syndrome II homocystinuria-megaloblastic Anemia, cblG complementation type methionine synthase deficiency methylcobalamin deficiency, cblG type tetrahydrofolate methyltransferase deficiency N5-methylhomocysteine transferase deficiency tetrahydrofolate-methyltransferase deficiency syndrome arakawa syndrome 2 MONDO:0021918 spastic paraplegia with iron deposits in basal ganglia arena syndrome https://rarediseases.info.nih.gov/diseases/9223/arena-syndrome MONDO:0021921 corneal crystals myopathy and nephropathy corneal crystals myopathy and neuropathy Arnold stickler bourne syndrome https://rarediseases.info.nih.gov/diseases/366/arnold-stickler-bourne-syndrome MONDO:0021923 A syndrome characterized by bilateral anophthalmia (absence of one or both eyes), esophageal atresia (the upper esophagus ends and does not connect with the lower esophagus and stomach), and cryptorchidism (a condition in which one or both of the testes fail to descend from the abdomen into the scrotum). This is an n-of-1 use case where only one patient or family has been described with this disorder. bilateral anophthalmia, esophageal atresia, and right cryptorchidism Arroyo Garcia Cimadevilla syndrome https://rarediseases.info.nih.gov/diseases/771/arroyo-garcia-cimadevilla-syndrome MONDO:0021925 Inflammation of the tracheobronchial tree. tracheobronchitis Tracheobronchitis tracheobronchitis MONDO:0021927 arthrogryposis multiplex congenita with epileptic seizures and migrational brain disorder arthrogryposis epileptic seizures migrational brain disorder https://rarediseases.info.nih.gov/diseases/781/arthrogryposis-epileptic-seizures-migrational-brain-disorder MONDO:0021929 Myositis Ossificans resulting from trauma. traumatic myositis ossificans Myositis ossificans circumscripta Myositis ossificans traumatica Traumatic Myositis Ossificans Traumatic myositis ossificans myositis ossificans circumscripta myositis ossificans traumatica traumatic myositis ossificans MONDO:0021932 Trypanosomiasis caused by infection by Trypanosoma brucei gambiense. Infection by Trypanosoma gambiense Gambian sleeping sickness Gambian trypanosomiasis Gambiense trypanosomiasis infection Infection caused by Trypanosoma gambiense chronic sleeping sickness infection by Trypanosoma gambiense MONDO:0021935 A infectious disease involving the Aspergillus niger. Aspergillus niger infection Aspergillus niger infection, pulmonary infections, Aspergillus niger aspergillus niger infection https://rarediseases.info.nih.gov/diseases/9716/aspergillus-niger-infection MONDO:0021941 An infection with Trypanosoma brucei rhodesiense. infection by trypanosoma rhodesiense rhodesian trypanosomiasis acute sleeping sickness infection caused by trypanosoma rhodesiense rhodesian sleeping sickness infection by Trypanosoma rhodesiense MONDO:0021943 A tumor-like mass resulting from the enlargement of a tuberculous lesion. Tuberculoma Tuberculomas tuberculoma MONDO:0021944 A hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception. ANSD auditory dys-synchrony auditory neuropathy auditory neuropathy spectrum disorder familial auditory neuropathy progressive auditory neuropathy Editor note: OMIMPS seems to refer to a more restricted concept auditory neuropathy https://rarediseases.info.nih.gov/diseases/9274/auditory-neuropathy MONDO:0021945 A disorder characterized by the partial or complete loss of the ability to detect sounds due to damage to the ear structures or inability of the brain to properly interpret or process the auditory signals it receives from the anatomic structures of the ear. hearing disorder auditory alteration disorder of hearing hearing disorder MONDO:0021948 https://github.com/monarch-initiative/mondo/issues/4143 cutaneous tuberculosis tuberculosis of skin Cutaneous Tuberculoses Cutaneous Tuberculosis Cutaneous tuberculosis Skin Tuberculoses Skin Tuberculosis Tuberculoderma Tuberculoses, Cutaneous Tuberculoses, Skin Tuberculosis cutis Tuberculosis of skin Tuberculosis, Cutaneous Tuberculosis, Skin tuberculoderma tuberculosis cutis cutaneous tuberculosis MONDO:0021950 Autoimmune oophoritis is a rare cause of primary ovarian insufficiency (POI). It happens when the body's immune system mistakenly attacks the ovaries causing inflammation, atrophy and fibrosis. These changes stop the ovaries from working normally. The main symptoms of autoimmune oophorotis are irregular or absent menstrual period (amenorrhea) and symptoms related to ovarian cysts such as abdominal cramping, bloating, nausea and vomiting. Autoimmune oophoritis may occur as part of autoimmune polyglandular syndrome type I and type II but has also been associated with lupus, pernicious anemia, myasthenia gravis and other autoimmune conditions. The underlying cause of autoimmune oophoritis is unknown. Diagnosis involves a special blood test which looks for anti-steroid or anti-ovarian antibodies, a pelvic ultrasound to look for enlarged cystic ovaries and tests to rule out other possible causes of POI. Management of autoimmune oophoritis involves emotional support, possible estrogen replacement therapy and management of other autoimmune conditions. autoimmune oophoritis https://rarediseases.info.nih.gov/diseases/9461/autoimmune-oophoritis MONDO:0021952 Autoimmune progesterone dermatitis (APD) is primarily characterized by a recurrent skin rash that varies in severity depending on the phase of the menstrual cycle. The rash generally appears during the second half of the cycle when levels of the hormone, progesterone, begin to rise and it subsides shortly after menstruation. Although the exact underlying cause of APD is not well understood, it is thought to involve an abnormal immune reaction (autoimmune response) triggered by a woman's own progesterone. Depending on the severity of the condition, treatment may include topical (applied to the skin) medications, systemic corticosteroids, hormone therapy to suppress the production of progesterone, and/or surgical removal of the ovaries. autoimmune progesterone dermatitis autoimmune progesterone dermatitis/urticaria APD autoimmune progesterone urticaria progesterone dermatitis autoimmune progesterone dermatitis https://rarediseases.info.nih.gov/diseases/9139/autoimmune-progesterone-dermatitis MONDO:0021953 Scarring of the lung parenchyma caused by pulmonary tuberculosis. tuberculous fibrosis of lung Tuberculous Fibrosis of Lung Tuberculous fibrosis of lung tuberculous fibrosis of lung MONDO:0021957 https://github.com/monarch-initiative/mondo/issues/4069 congenital nuclear cataract, autosomal recessive autosomal recessive nonsyndromic congenital nuclear cataract https://rarediseases.info.nih.gov/diseases/9492/autosomal-recessive-nonsyndromic-congenital-nuclear-cataract MONDO:0021960 An acute or chronic inflammatory process affecting the ureter. ureteritis Inflammation of ureter Ureteritis ureteritis MONDO:0021962 hypoplastic right-sided heart complex baetz-greenwalt syndrome https://rarediseases.info.nih.gov/diseases/9216/baetz-greenwalt-syndrome MONDO:0021964 macrocephaly short limbs deafness macrocephaly, hypertelorism, short limbs, hearing loss, and developmental delay bagatelle Cassidy syndrome https://rarediseases.info.nih.gov/diseases/398/bagatelle-cassidy-syndrome MONDO:0021966 A very rare syndrome characterized by craniosynostosis (premature fusion of skull bones), hydrocephalus (an abnormal increase of cerebrospinal fluid in the ventricles of the brain) and abnormal development of the channel or duct in the middle of the brain that connects the third and fourth ventricles. This is an n-of-1 use case where only one patient or family has been described with this disorder. hydrocephalus with cerebral aqueductal dysgenesis and craniofacial anomalies baker Vinters syndrome https://rarediseases.info.nih.gov/diseases/808/baker-vinters-syndrome MONDO:0021969 A syndrome characterized by hypochromic anemia with leukopenia, splenomegaly, late onset hepatic cirrhosis and death from gastric hemorrhages. Banti's disease Banti's syndrome idiopathic congestive splenomegaly idiopathic portal hypertension Banti syndrome https://rarediseases.info.nih.gov/diseases/5888/bantis-syndrome MONDO:0021977 A type of pilosebaceous hamartoma characterized by basal cell epitheliomata, epidermoid cysts and comedones, and epidermal atrophy. basal cell nevus with comedones basaloid follicular hamartoma basaloid follicular hamartoma https://rarediseases.info.nih.gov/diseases/2354/basaloid-follicular-hamartoma MONDO:0021979 A congenital hypotrichosis that is characterized by trichorrhexis nodosa and trichoptilosis, dry skin, keratosis pilaris and leukonychia totalis. Other features include progressive transgrediens type of palmoplantar keratoderma, and hyperkeratotic lesions on the knees, elbows and perianal region. keratoderma, hypotrichosis and leukonychia totalis Basaran Yilmaz syndrome https://rarediseases.info.nih.gov/diseases/833/basaran-yilmaz-syndrome MONDO:0021994 Berk Tabatznik syndrome cleft nare, brachydactyly, short stature dwarfism cleft nare, brachydactyly, short stature-dwarfism congenital optic atrophy and brachytelephalangy kyphosis brachyphalangy optic atrophy short stature, congenital optic atrophy, and hypoplasia of the cervical vertebral bodies and distal phalanges Berk-Tabatznik syndrome https://rarediseases.info.nih.gov/diseases/5109/berk-tabatznik-syndrome MONDO:0022007 A condition resulting from the excessive retention of water with sodium depletion. water intoxication syndrome WATER INTOX Water Intoxication Water intoxication Water intoxication syndrome water intoxication MONDO:0022011 Bobble-head doll syndrome (BHDS) is a rare neurological condition thatis typically first seen in childhood. The signs and symptoms of BHDS includecharacteristic up and downhead movements that increase during walking and excitement and decrease during concentration.Although the specific cause of this condition is unknown, BHDS is often seen with cysts in the third ventricle of the brain that alsocause hydrocephalus (water on the brain). Treatment for BHDS may involve surgical removal of the cyst causing the condition or using a shunt to drain excess water on the brain. BHDS bobble head doll syndrome bobble-head doll syndrome https://rarediseases.info.nih.gov/diseases/9731/bobble-head-doll-syndrome MONDO:0022013 A syndrome characterized by spontaneous longitudinal transmural rupture of the esophagus, usually in its distal part. Boerhaave syndrome spontaneous rupture of esophagus Boerhaave's syndrome Boerhave syndrome boerhaave's syndrome spontaneous esophageal perforation spontaneous perforation of esophagus spontaneous perforation of the esophagus spontaneous rupture of the esophagus Boerhaave syndrome https://rarediseases.info.nih.gov/diseases/9261/boerhaave-syndrome MONDO:0022020 Familial syndrome combining short stature, microcephaly, mental deficiency, seizures, hearing loss, and skin lesions https://github.com/monarch-initiative/mondo/issues/5588 Boudhina Yedes Khiari syndrome https://rarediseases.info.nih.gov/diseases/945/boudhina-yedes-khiari-syndrome MONDO:0022022 Dysplastic papular lesions presenting on the genitalia of either sex. The lesions are associated with human papillomavirus infection. The majority of cases have a benign clinical course, although, a small number of cases with malignant transformation have been reported. Bowenoid papulosis bowenoid papulosis BP bowenoid papulosis https://rarediseases.info.nih.gov/diseases/5951/bowenoid-papulosis MONDO:0022025 congenital hypomyelination neuropathy with arthrogryposis multiplex congenita boylan dew greco syndrome https://rarediseases.info.nih.gov/diseases/954/boylan-dew-greco-syndrome MONDO:0022034 Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection. Disease caused by Lentivirus Disease due to Lentivirus Infection, Lentivirus Infections, Lentivirus Lentivirus Infection Lentivirus Infections lentivirus infection MONDO:0022037 Malignant lymphoma characterized by the presence of immunoblasts with uniformly round-to-oval nuclei, one or more prominent nucleoli, and abundant cytoplasm. This class may be subdivided into plasmacytoid and clear-cell types based on cytoplasmic characteristics. A third category, pleomorphous, may be analogous to some of the peripheral T-cell lymphomas (LYMPHOMA, T-CELL, PERIPHERAL) recorded in both the United States and Japan. Diffuse Immunoblastic Lymphosarcoma Diffuse Immunoblastic Lymphosarcomas Diffuse non-Hodgkin lymphoma, immunoblastic Diffuse non-Hodgkin's immunoblastic (diffuse) lymphoma Diffuse non-Hodgkin's lymphoma, immunoblastic Diffuse non-Hodgkin's lymphoma, immunoblastic (clinical) IMMUNOBLASTIC LARGE LYMPHOMA Immunoblastic Large Cell Lymphoma Immunoblastic Large-Cell Lymphoma Immunoblastic Large-Cell Lymphomas Immunoblastic Lymphoma Immunoblastic Lymphoma, Large-Cell Immunoblastic Lymphomas, Large-Cell Immunoblastic Lymphosarcoma, Diffuse Immunoblastic Lymphosarcomas, Diffuse Immunoblastic Sarcoma Immunoblastic Sarcomas Immunoblastic malignant lymphoma - large cell Immunoblastoma Immunoblastomas LARGE IMMUNOBLASTIC LYMPHOMA LYMPHOMA IMMUNOBLASTIC LARGE LYMPHOMA LARGE IMMUNOBLASTIC Large Cell Immunoblastic Lymphoma Large cell immunoblastic lymphoma Large-Cell Immunoblastic Lymphoma Large-Cell Immunoblastic Lymphomas Large-Cell Lymphoma, Immunoblastic Large-Cell Lymphomas, Immunoblastic Lymphoma, Immunoblastic Large-Cell Lymphoma, Immunoblastic, Large Cell Lymphoma, Immunoblastic, Large-Cell Lymphoma, Large Cell, Immunoblastic Lymphoma, Large-Cell Immunoblastic Lymphoma, Large-Cell, Immunoblastic Lymphoma, immunoblastic, high grade Lymphomas, Immunoblastic Large-Cell Lymphomas, Large-Cell Immunoblastic Lymphosarcoma, Diffuse Immunoblastic Lymphosarcomas, Diffuse Immunoblastic Malignant lymphoma - immunoblastic Sarcoma, Immunoblastic Sarcomas, Immunoblastic large-cell immunoblastic lymphoma MONDO:0022055 craniosynostosis, limb abnormalities, brevicollis, micrognathia, pulmonary stenosis, and genital defects Calabro syndrome https://rarediseases.info.nih.gov/diseases/8584/calabro-syndrome MONDO:0022057 A slow growing, locally invasive neoplasm arising from tooth-forming tissues. It most often grows intraosseously in the mandible and less frequently in the maxilla. In a minority of cases it grows extraosseously in the gingiva. It is characterized by the presence of a fibrous stroma, epithelial cells with abundant eosinophilic cytoplasm, and amyloid material which is often calcified. Small tumors may be successfully treated with enucleation. Local resection is usually required for larger tumors. Recurrences have been reported in a minority of cases. Pindborg tumor calcifying epithelial odontogenic tumor CEOT calcifying epithelial odontogenic tumor https://rarediseases.info.nih.gov/diseases/6256/calcifying-epithelial-odontogenic-tumor MONDO:0022060 primary amenorrhoea with coloboma and total agenesis of the corpus callosum calloso-genital dysplasia https://rarediseases.info.nih.gov/diseases/1055/calloso-genital-dysplasia MONDO:0022067 https://github.com/monarch-initiative/mondo/issues/5588 severe mental deficiency proportionate dwarfism and delayed sexual maturation severe mental deficiency, proportionate dwarfism, and delayed sexual maturation Cantu sanchez-corona fragoso syndrome https://rarediseases.info.nih.gov/diseases/1081/cantu-sanchez-corona-fragoso-syndrome MONDO:0022070 Mild mental deficiency, short stature, macrocranium, cardiac anomalies, cutis laxa, peculiar facies, wrinkled palms and soles, small vertebral bodies Cantu sanchez-corona hernandez syndrome https://rarediseases.info.nih.gov/diseases/1083/cantu-sanchez-corona-hernandez-syndrome MONDO:0022071 Carbon baby syndrome, also known as universal acquired melanosis, is a rare form of hyperpigmentation. The skin of affected infants progressively darkens over the first years of life in the absence of other symptoms. The cause of the condition is unknown. universal acquired melanosis carbon baby syndrome https://rarediseases.info.nih.gov/diseases/1089/carbon-baby-syndrome MONDO:0022089 Triphalyngeal thumbs and brachyectrodactyly Carnevale hernandez castillo syndrome https://rarediseases.info.nih.gov/diseases/1117/carnevale-hernandez-castillo-syndrome MONDO:0022094 https://github.com/monarch-initiative/mondo/issues/5588 Growth retardation, severe intellectual disability, acral limb deficiencies with poorly keratinized nails Growth retardation, severe mental retardation, acral limb deficiencies with poorly keratinized nails Cartwright Nelson Fryns syndrome https://rarediseases.info.nih.gov/diseases/1132/cartwright-nelson-fryns-syndrome MONDO:0022096 A disorder of the skin, the oral mucosa, and the gingiva, that usually presents as a solitary polypoid capillary hemangioma often resulting from trauma. It is manifested as an inflammatory response with similar characteristics to those of a granuloma. Capillary Hemangioma, Lobular Capillary hemangioma of granulation tissue type Granulation Tissue-Type Hemangioma Granuloma Pyogenicum Granuloma Telangiecticum Granuloma pyogenicum Granuloma telangiectaticum Granuloma, Pyogenic Granulomata Pyogenicum Lobular Capillary Hemangioma Lobular Hemangioma Lobular capillary hemangioma PG - Pyogenic granuloma Pyogenic Granuloma angiogranuloma angiogranulomas hemangioma, Lobular Capillary hemangiomatous Granulation Tissue pyogenic granuloma MONDO:0022098 Catamenial pneumothorax is an extremely rare condition that affects women. Pneumothorax is the medical term for a collapsed lung, a condition in which air or gas is trapped in the space surrounding the lungs causing the lungs to collapse. Women with catamenial pneumothorax have recurrent episodes of pneumothorax that occur within 72 hours before or after the start of menstruation. The exact cause of catamenial pneumothorax is unknown and several theories have been proposed. Many cases are associated with the abnormal development of endometrial tissue outside of the uterus (endometriosis). Some believe that catamenial pneumothorax is the most common form of thoracic endometriosis (a condition in which the endometrial tissue grows in or around the lungs). A diagnosis of catamenial pneumothorax is usually suspected when a woman of reproductive age and with endometriosis has episodes of pneumothorax.Treatment is with hormones and surgery. catamenial pneumothorax premenstrual pneumothorax catamenial pneumothorax https://rarediseases.info.nih.gov/diseases/9858/catamenial-pneumothorax MONDO:0022103 An infectious or non-infectious chronic inflammatory process that affects the prostate gland. chronic prostatitis Chronic Prostatitis Chronic prostatitis chronic prostatitis MONDO:0022113 central centrifugal cicatricial alopecia CCCA CENTRAL CENTRIFUGAL CICATRICIAL ALOPECIA central centrifugal alopecia hot comb alopecia central centrifugal cicatricial alopecia https://rarediseases.info.nih.gov/diseases/10826/central-centrifugal-cicatricial-alopecia MONDO:0022140 Charles Bonnet syndrome (CBS) refers to the presenceof visual hallucinations in individuals with visual acuity loss without havingpsychosis or dementia. The condition is likely caused by the brain continuing to interpret images, even in their absence. Underlying conditions of vision loss associated with Charles Bonnet syndrome are diverse (including conditions such as macular degeneration and stroke) and may affect the eye, optic nerve, or brain. Hallucinations often resolve if the underlying vision deficit is corrected and can also remit in some individuals with static or progressive vision loss. Treatment is individualized. charles bonnet syndrome CBS Charles bonnet syndrome https://rarediseases.info.nih.gov/diseases/10343/charles-bonnet-syndrome MONDO:0022151 bowed tibiae, radial anomalies, osteopenia, multiple fractures and developmental delay Chitty Hall Webb syndrome https://rarediseases.info.nih.gov/diseases/1277/chitty-hall-webb-syndrome MONDO:0022171 A rare condition characterized by the secretion of colored sweat, caused by the deposition of lipofuscin in the sweat glands. Usually chromhidrosis affects the apocrine glands, mainly on the face and underarms. chromhidrosis secretion of colored sweat chromhidrosis https://rarediseases.info.nih.gov/diseases/10749/chromhidrosis MONDO:0022173 https://github.com/monarch-initiative/mondo/issues/3492 https://github.com/monarch-initiative/mondo/issues/4278 11q duplication 11q trisomy Duplication 11q chromosome 11q duplication partial duplication of chromosome 11q partial duplication of the long arm of chromosome 11 partial duplication of the long arm of chromosome type 11 partial trisomy 11q partial trisomy of chromosome 11q partial trisomy of the long arm of chromosome 11 trisomy 11q chromosome 11q trisomy MONDO:0022174 A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 12. https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome 12p partial deletion of the short arm of chromosome 12 partial deletion of the short arm of chromosome type 12 partial monosomy of chromosome 12p partial monosomy of the short arm of chromosome 12 12p del 12p deletion 12p monosomy 12p- del(12p) deletion 12p loss of chromosome 12p monosomy 12p partial monosomy 12p chromosome 12p deletion https://rarediseases.info.nih.gov/diseases/6068/chromosome-12p-deletion MONDO:0022177 https://github.com/monarch-initiative/mondo/issues/3492 https://github.com/monarch-initiative/mondo/issues/4278 13q duplication 13q trisomy Duplication 13q chromosome 13q duplication partial duplication of chromosome 13q partial duplication of the long arm of chromosome 13 partial duplication of the long arm of chromosome type 13 partial trisomy 13q partial trisomy of chromosome 13q partial trisomy of the long arm of chromosome 13 trisomy 13q chromosome 13q trisomy MONDO:0022178 Mosiacism of chromosome 13q chromosome 13q-mosaicism MONDO:0022180 mosaic trisomy 16 trisomy 16 trisomy chromosome 16 chromosome 16 trisomy https://rarediseases.info.nih.gov/diseases/7060/chromosome-16-trisomy MONDO:0022196 chronic erosive gastritis ceg - chronic erosive gastritis diffuse varioliform gastritis idiopathic chronic, erosive gastritis varioliform gastritis chronic erosive gastritis https://rarediseases.info.nih.gov/diseases/6099/chronic-erosive-gastritis MONDO:0022202 disseminated MONDO:0022205 pustular psoriasis Pustular psoriasis pustular psoriasis MONDO:0022208 crystal arthropathy Arthritides, Crystal Arthritides, Crystalline Arthritis, Crystal Arthritis, Crystalline Arthropathies, Crystal Arthropathies, Crystalline Arthropathy, Crystal Arthropathy, Crystalline Crystal Arthritides Crystal Arthritis Crystal Arthropathies Crystal Arthropathy Crystal arthropathy Crystal-induced arthritis AND/OR synovitis Crystal-related arthropathy and periarthropathy Crystalline Arthritides Crystalline Arthritis Crystalline Arthropathies Crystalline Arthropathy Crystalline arthritis crystal-induced arthritis and/or synovitis crystal-related arthropathy and periarthropathy crystalline arthritis crystal arthropathy MONDO:0022220 A rare syndrome affecting conjugate vertical eye movement. It is often caused by a dorsal midbrain neoplasm, commonly a pinealoma, but may also be attributable to demyelinating diseases or stroke. Clinical signs include limitation of upward gaze, light-near dissociation of the pupillary response, eyelid retraction (Collier's sign) and convergence-retraction nystagmus. Clinical course is dependent on effective treatment of underlying cause. Parinaud syndrome Parinaud's syndrome Parinauds syndrome syndrome, Parinaud syndrome, Parinaud's Parinaud's ophthalmoplegia dorsal midbrain syndrome paralysis of vertical movement vertical gaze palsy - Parinaud Parinaud syndrome MONDO:0022236 Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain - are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken. colpocephaly https://rarediseases.info.nih.gov/diseases/10008/colpocephaly MONDO:0022293 A non-neoplastic or neoplastic disorder that affects the blood vessels of the penis. Representative examples include atherosclerosis, venous leak, and hemangioma. penile vascular disorder Penile Vascular Disorder Penile vascular disorder Penis vascular disorder Vascular disorder of penis vascular disorder of penis MONDO:0022308 A progressive neurodegenerative condition affecting the cerebral cortex and basal ganglia. The disorder is characterized by varying degrees of cognitive and motor impairment. https://github.com/monarch-initiative/mondo/issues/5085 cortical basal ganglionic degeneration corticobasal degeneration CBGD cortical-basal ganglionic degeneration cortico-basal ganglionic Degeneration (CBGD) corticobasal syndrome corticodentatonigral degeneration with neuronal achromasia corticobasal degeneration disorder https://rarediseases.info.nih.gov/diseases/46/corticobasal-degeneration MONDO:0022311 ectodermal dysplasia osteosclerosis cote katsantoni syndrome https://rarediseases.info.nih.gov/diseases/1554/cote-katsantoni-syndrome MONDO:0022316 Syndrome with the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit, without a demonstrable metabolic aberration. It has been described in three sisters born to consanguineous parents. https://github.com/monarch-initiative/mondo/issues/4390 Calderon Gonzalez-Cantu syndrome Calderón-González-Cantu syndrome hair defect with photosensitivity and intellectual disability syndrome hair defect-photosensitivity-intellectual disability syndrome hair defect with photosensitivity and intellectual disability hair defect with photosensitivity and mental retardation kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive intellectual disability kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardation hair defect with photosensitivity and intellectual disability syndrome MONDO:0022321 Editor note: todo split Wikipedia:2-methylacetoacetyl-CoA_thiolase 2-methylacetoacetyl CoA thiolase deficiency https://rarediseases.info.nih.gov/diseases/8382/2-methylacetoacetyl-coa-thiolase-deficiency MONDO:0022323 2-HEMA sensitization sensitization to 2-hydroxyethyl methacrylate 2-hydroxyethyl methacrylate sensitization https://rarediseases.info.nih.gov/diseases/8635/2-hydroxyethyl-methacrylate-sensitization MONDO:0022330 4-hydroxyphenylacetic aciduria https://rarediseases.info.nih.gov/diseases/8155/4-hydroxyphenylacetic-aciduria MONDO:0022333 5'-Nucleotidase syndrome 5'NT syndrome 5-nucleotidase syndrome https://rarediseases.info.nih.gov/diseases/8242/5-nucleotidase-syndrome MONDO:0022337 AIDS dysmorphic syndrome https://rarediseases.info.nih.gov/diseases/5765/aids-dysmorphic-syndrome MONDO:0022338 anaplastic lymphoma kinase positive histiocytosis ALK+ histiocytosis https://rarediseases.info.nih.gov/diseases/10577/alk-histiocytosis MONDO:0022349 The absence of the septum pellucidum is a rare condition that affects the structure of the brain. Specifically, a thin membrane called the septum pellucidum is missing from its normal position in the middle of the brain. When it is missing, symptoms may include learning difficulties, behavioral changes, seizures, and changes in vision. Absence of the septum pellucidum is not typically seen as an isolated finding. Instead, absence of the septum pellucidum is associated with other conditions such as septo-optic dysplasia. Treatment options for the condition vary depending on the underlying disorder. Diagnosis of absence of the septum pellucidum can be made through imaging such as an MRI. Symptoms of absence of the septum pellucidum typically present during childhood, but a diagnosis can also be made before an individual is born (prenatally). If an individual is found to be missing the septum pellucidum, a search for an underlying disorder should be made. https://github.com/monarch-initiative/mondo/issues/4069 absence of septum pellucidum Editor note: consider representing as finding congenital absence of septum pellucidum https://rarediseases.info.nih.gov/diseases/9253/absence-of-septum-pellucidum MONDO:0022357 acardia congenital absence of the heart Editor note: axiomatize using HPO; check parent class MONDO:0002254 congenital acardia https://rarediseases.info.nih.gov/diseases/9823/acardia MONDO:0022380 A disease characterized by acute lymphoblastic leukemia with the presence of congenital sporadic aniridia, the absence of an iris, where neither parent has aniridia. acute lymphoblastic leukemia congenital sporadic aniridia https://rarediseases.info.nih.gov/diseases/523/acute-lymphoblastic-leukemia-congenital-sporadic-aniridia MONDO:0022394 Cervical Dysplasia Cervical Intraepithelial Neoplasia Cervical Intraepithelial Neoplasm Cervical Intraepithelial Neoplasms Cervical intraepithelial neoplasia Cervix Intraepithelial Neoplasia Cervix Uteri Intraepithelial Neoplasia Intraepithelial Neoplasia of Cervix Intraepithelial Neoplasia of Cervix Uteri Intraepithelial Neoplasia of Uterine Cervix Intraepithelial Neoplasia of the Cervix Intraepithelial Neoplasia of the Cervix Uteri Intraepithelial Neoplasia of the Uterine Cervix Intraepithelial Neoplasia, Cervical Intraepithelial Neoplasm, Cervical Intraepithelial Neoplasms, Cervical NEOPL CERVICAL INTRAEPITHELIAL Neoplasia, Cervical Intraepithelial Neoplasm, Cervical Intraepithelial Neoplasms, Cervical Intraepithelial Uterine Cervix Intraepithelial Neoplasia cervical intraepithelial neoplasia MONDO:0022397 retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene MONDO:0022398 A disease characterized by complete absence of tongue that can also be associated with limb deformities, syndromes and aberrant positioning of the visceral organs. Editor note: check relationship to MONDO:0008740 aglossia and situs inversus https://rarediseases.info.nih.gov/diseases/9211/aglossia-and-situs-inversus MONDO:0022399 retinal ciliopathy due to mutation in the RPGR gene MONDO:0022400 retinal ciliopathy due to mutation in the RPGRIP gene MONDO:0022401 Cortical malformations characterized by no gyri, broad gyri and/or an excessive number of abnormally small gyri that result in an irregular cortical surface with lumpy aspect. agyria pachygyria polymicrogyria https://rarediseases.info.nih.gov/diseases/572/agyria-pachygyria-polymicrogyria MONDO:0022402 A disorder of neuronal migration that is characterized by abnormal cortex morphology, with pathological features including a variably decreased brain size, enlarged ventricles representing a stage of fetal development rather than hydrocephalus, heterotopia of the inferior olivary bodies that lie between the corpus pontobulbare and their normal location, aberrant or absent corticospinal tract, heterotopia of cerebellar granules and abnormally shaped dentate nuclei. Bielchowsky type of lissencephaly type I lissencephaly agyria-pachygyria type 1 https://rarediseases.info.nih.gov/diseases/573/agyria-pachygyria-type-1 MONDO:0022403 A syndrome characterized by galactorrhea and amenorrhea with symptoms of estrogenic insufficiency and absence of urinary gonadotropins. Argonz Ahumada Del Castillo syndrome Argonz Del Castillo syndrome amenorrhea galactorrhea FSH decrease syndrome galactorrhea amenorrhea without pregnancy nonpuerperal galactorrhe amenorrhea Ahumada Del Castillo syndrome https://rarediseases.info.nih.gov/diseases/5763/ahumada-del-castillo-syndrome MONDO:0022404 retinal ciliopathy due to mutation in Usher gene MONDO:0022405 retinal ciliopathy due to mutation in nephronophthisis gene MONDO:0022407 retinal ciliopathy due to mutation in Bardet-Biedl gene MONDO:0022409 nephropathy-associated ciliopathy MONDO:0022410 retinal ciliopathy MONDO:0022413 Albright like syndrome Albright-like syndrome https://rarediseases.info.nih.gov/diseases/596/albright-like-syndrome MONDO:0022414 acro cephalo synostosis craniosynostosis synostoses hypertensive nephropathy allain-babin-demarquez syndrome https://rarediseases.info.nih.gov/diseases/124/allain-babin-demarquez-syndrome MONDO:0022417 alopecia congenita with hyperkeratosis of the palms and soles alopecia congenita with keratosis palmoplantaris alopecia congenita keratosis palmoplantaris MONDO:0022424 alpha-mannosidosis type 1 MONDO:0022425 Abuelo Forman Rubin syndrome homozygous alpha-thalassemia, genital abnormalities, and terminal transverse limb defects alpha-thalassemia-abnormal morphogenesis https://rarediseases.info.nih.gov/diseases/362/alpha-thalassemia-abnormal-morphogenesis MONDO:0022428 Aluminosis is characterized as diffuse interstitial fibrosis which is mainly located in the upper and middle lobes of the lung. In advanced stages it is characterized by subpleural bullous emphysema with an increased risk of spontaneous pneumothorax. aluminosis of lung pulmonary aluminosis aluminium lung aluminosis https://rarediseases.info.nih.gov/diseases/8357/aluminium-lung MONDO:0022430 A cardiopulmonary disorder characterized by systemic arterial hypoxemia secondary to pulmonary hypertension and extrapulmonary right to left shunting across the foramen ovale and ductus arteriosus. https://github.com/monarch-initiative/mondo/issues/5537 PPHN persistent fetal circulation persistent pulmonary hypertension of the newborn Editor note: consider relationship to MONDO:0009934 persistent fetal circulation syndrome MONDO:0022432 ectodermal dysplasia syndrome of hypotrichosis, onychodysplasia, hyperkeratosis, kyphoscoliosis, and cataract alves Castelo dos Santos syndrome MONDO:0022435 A complication of poorly controlled type 1 diabetes mellitus in children characterized by linear growth impairment, glycogenic hepatopathy, and Cushingoid features. Mauriac syndrome Mauriac's syndrome dwarfism-hepatomegaly-obesity-juvenile diabetes syndrome Mauriac syndrome MONDO:0022444 Amyloidosis with tracheobronchial deposits in diffuse plaques that can cause stenosis or parenchymal nodules or masses. amyloidosis bronchopulmonary https://rarediseases.info.nih.gov/diseases/1026/amyloidosis-bronchopulmonary MONDO:0022453 An uncommon benign proliferation of smooth muscle, blood vessels, collagenous stroma, and adipocytes, most commonly affecting inguinal lymph node. angiomyomatous hamartoma https://rarediseases.info.nih.gov/diseases/8313/angiomyomatous-hamartoma MONDO:0022454 Angiosarcoma of the scalp is a rare cancer which most commonly affects the elderly. This condition is characterized by bruise-like lesions that escalate to elevated, nodular, or ulcerated tumors. Extensive local growth is common and metastasis to regional lymph nodes and to the lungs may occur. The cause of angiosarcoma of the scalp is unknown, although several associations have been reported, including lymphedema, prior radiation treatment, and environmental exposures. Treatment may include surgery, radiation and chemotherapy. angiosarcoma (disease) of scalp scalp angiosarcoma (disease) angiosarcoma of the scalp https://rarediseases.info.nih.gov/diseases/5814/angiosarcoma-of-the-scalp MONDO:0022456 ankle defects short stature https://rarediseases.info.nih.gov/diseases/694/ankle-defects-short-stature MONDO:0022457 ankyloblepharon filiforme imperforate anus https://rarediseases.info.nih.gov/diseases/697/ankyloblepharon-filiforme-imperforate-anus MONDO:0022458 A syndrome characterized by congenital constriction bands, often deformity of the nails with distally located bands, and commonly a malformation of the hand. annular constricting bands https://rarediseases.info.nih.gov/diseases/704/annular-constricting-bands MONDO:0022461 A syndrome characterized by bilateral anophthalmos, hypospadias, bifid scrotum, micrognathia, and cleft palate with normal chromosomes. anophthalmia cleft palate micrognathia https://rarediseases.info.nih.gov/diseases/715/anophthalmia-cleft-palate-micrognathia MONDO:0022462 A syndrome characterized by bilateral anophthalmia, esophageal atresia, and cryptorchidism. This is an n-of-1 use case where only one patient or family has been described with this disorder. anophthalmia esophageal atresia cryptorchidism https://rarediseases.info.nih.gov/diseases/716/anophthalmia-esophageal-atresia-cryptorchidism MONDO:0022465 A syndrome characterized by anotia (congenital absence of the pinna) with a normal cochlea and vestibular apparatus, with facial paralysis caused by congenital absence of the entire right facial nerve, and congenital heart disease, which may present as atrioventricular septal defects or variations of tetralogy of Fallot. anotia facial palsy cardiac defect https://rarediseases.info.nih.gov/diseases/725/anotia-facial-palsy-cardiac-defect MONDO:0022468 An inborn errors of metabolism disorder caused by homozygosity for mutations in the TAP2 gene. It is characterizeed by nonhealing, chronic, ulcerative granulomatous leg lesions combined with recurrent otitis media and sinopulmonary infections. antigen processing (TAP) deficiency syndrome TAP 2 deficiency antigen-peptide-transporter 2 deficiency https://rarediseases.info.nih.gov/diseases/732/antigen-peptide-transporter-2-deficiency MONDO:0022470 A syndrome characterized by arterial dissections, multiple lentigines, and cystic medial necrosis. aortic dissection lentiginosis https://rarediseases.info.nih.gov/diseases/742/aortic-dissection-lentiginosis MONDO:0022471 aortic valves stenosis of the child childhood aortic valve stenosis https://rarediseases.info.nih.gov/diseases/744/aortic-valves-stenosis-of-the-child MONDO:0022481 APO A-i deficiency https://rarediseases.info.nih.gov/diseases/758/apo-a-i-deficiency MONDO:0022496 A syndrome characterized by severe intrauterine growth retardation, psychomotor delay and recurrent infections, craniofacial dysostosis, a progeroid appearance, arthrogryposis and camptodactylia. Van Bervliet syndrome arthrogryposis IUGR thoracic dystrophy https://rarediseases.info.nih.gov/diseases/782/arthrogryposis-iugr-thoracic-dystrophy MONDO:0022500 A syndrome characterized by congenital contractures, scarce facial expressions, central nervous system dysfunction, and early death, as well as extensive deposits of calcium compounds in the nervous system and of skeletal muscle. arthrogryposis multiplex congenita CNS calcification https://rarediseases.info.nih.gov/diseases/785/arthrogryposis-multiplex-congenita-cns-calcification MONDO:0022504 arthrogryposis spinal muscular atrophy https://rarediseases.info.nih.gov/diseases/795/arthrogryposis-spinal-muscular-atrophy MONDO:0022509 Asternia, also known as a complete congenital sternal cleft, is a condition in which a bone called thesternum does not form properly.The sternumusuallyconnects to the ribs to form the ribcage. Individuals with asternia are missing this bone and may appear to have a rut or trench under the skin in the middle of the chest. Most individuals with asternia have no symptoms, though some may have difficulty breathing. Asternia is sometimes associated with other conditions, such as heart problems. The cause of asternia is currently unknown. Treatment consists of surgery to close the gap between the ribs. absent sternum asternia https://rarediseases.info.nih.gov/diseases/9221/asternia MONDO:0022510 atlantoaxial fusion atlantoaxial joint fusion atlanto-axial fusion https://rarediseases.info.nih.gov/diseases/9219/atlanto-axial-fusion MONDO:0022513 Atrophoderma of Pierini and Pasini is thought to possibly represent a late stage of morphea a type of localized scleroderma. Signs and symptoms ofatrophoderma of Pierini and Pasini include multiple oval, darkened (hyperpigmented) plaques in which tissue under the skin breaks downso that there is a depression (dent) within the skin. Some findings suggest that atrophoderma of Pierini and Pasini may be associated with B burgdorferi, a bacteria that causesLyme disease, in some cases. congenital atrophoderma of Pasini and Pierini idiopathic atrophoderma of Pasini and Pierini atrophoderma of Pierini and Pasini https://rarediseases.info.nih.gov/diseases/5866/atrophoderma-of-pierini-and-pasini MONDO:0022518 A syndrome characterized by rapidly progressive sensorineural hearing loss (SNHL), that is often bilateral, and is potentially reversible. AIED autoimmune inner ear disease MONDO:0022519 Autoimmune myocarditis is an autoimmune disease that affects the heart. The condition is characterized by inflammation of the heart muscle (myocardium). Some people with autoimmune myocarditis have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. The exact underlying cause of the condition is currently unknown; however, autoimmune conditions, in general, occur when the immune system mistakenly attacks healthy tissue. Treatment is based on the signs and symptoms present in each person. In some cases, medications that suppress the immune system may be recommended. autoimmune myocarditis MONDO:0022529 BK virus nephropathy BKN PVAN Polyomavirus nephropathy kidney disease caused by BK polyomavirus nephropathy caused by BK polyomavirus nephropathy from BK virus polyomavirus associated nephropathy BK-virus nephropathy MONDO:0022535 carotidynia Autonomic facial cephalgia Carotidynia Carotodynia autonomic facial cephalgia MONDO:0022538 A clinical term that indicates the presence of a white patch on the surface of the gum which cannot be characterized as any other disease. It may be a precancerous condition and in most cases histologic examination reveals keratosis. gingival leukoplakia leukoplakia of gingiva Gingival Leukoplakia Leukoplakia of Gingiva Leukoplakia of gingiva leukoplakia of gingiva MONDO:0022545 Barnicoat-Baraitser syndrome polysyndactyly overgrowth syndrome Editor note: GARD cross-references an Orphanet term that appears not to exist. Barnicoat Baraitser syndrome https://rarediseases.info.nih.gov/diseases/825/barnicoat-baraitser-syndrome MONDO:0022551 A polygenic and multifactorial disease that develops as a result of a complex interplay between genetic susceptibility and environmental and endogenous factors, which leads to the loss of immune tolerance to thyroid antigens and in particular to the TSH receptor. Coma basedovicum Karl Adolph von Basedow Basedow's coma https://rarediseases.info.nih.gov/diseases/8177/basedows-coma MONDO:0022552 Bazopoulou Kyrkanidou syndrome MONDO:0022553 BD syndrome https://rarediseases.info.nih.gov/diseases/841/bd-syndrome MONDO:0022555 familial ankylosing vertebral hyperostosis with tylosis Beardwell syndrome MONDO:0022557 https://github.com/monarch-initiative/mondo/issues/4251 Behrens-Baumann-Vogel syndrome oculo-cerebral dysplasia microphthalmia-optic nerve dysplasia unilateral aplasia of the optic nerve with cryptophthalmus and contralateral microphthalmus Behrens Baumann dust syndrome https://rarediseases.info.nih.gov/diseases/4021/oculo-cerebral-dysplasia MONDO:0022559 A central nervous system vasculitis that has a benign course, with acute onset of neurologic symptoms, usually in the form of severe headache and/or a focal neurologic event. BACNS benign angiitis of the central nervous system https://rarediseases.info.nih.gov/diseases/8704/benign-angiitis-of-the-central-nervous-system MONDO:0022560 A rare disorder that affects women with a history of uterine leiomyoma, which is found to metastasise within extrauterine sites.The disease develops as a proliferation of multiple nodules composed of smooth muscle cells.The most frequent site of metastasis is the lungs, although other areas may also be affected as well, including some atypical locations, e.g. the heart or spinal cord. benign metastasizing leiomyoma MONDO:0022567 bhaskar jagannathan syndrome MONDO:0022568 bidirectional ventricular tachycardia bidirectional tachycardia https://rarediseases.info.nih.gov/diseases/878/bidirectional-tachycardia MONDO:0022572 bilateral renal agenesis dominant type https://rarediseases.info.nih.gov/diseases/885/bilateral-renal-agenesis-dominant-type MONDO:0022573 biliary atresia intrahepatic non syndromic form https://rarediseases.info.nih.gov/diseases/887/biliary-atresia-intrahepatic-non-syndromic-form MONDO:0022574 biliary atresia intrahepatic syndromic form https://rarediseases.info.nih.gov/diseases/888/biliary-atresia-intrahepatic-syndromic-form MONDO:0022575 A syndromic disease characterised by a small ductal system and reduction in the number of interlobular bile ducts. Editor note: consider making this a finding biliary hypoplasia https://rarediseases.info.nih.gov/diseases/8383/biliary-hypoplasia MONDO:0022576 bilirubin induced brain injury in the newborn https://rarediseases.info.nih.gov/diseases/9243/bilirubin-induced-brain-injury-in-the-newborn MONDO:0022577 A congenital malformation syndrome characterized by partial duplication of the left lower limb and aplasia of the ipsilateral kidney, plus other congenital malformations. billet-bear syndrome Lower limb partial duplication renal agenesis Billet bear syndrome https://rarediseases.info.nih.gov/diseases/892/billet-bear-syndrome MONDO:0022578 A rare carcinoma of the bladder that occurs during childhood. bladder cancer childhood bladder cancer childhood bladder carcinoma bladder cancer childhood bladder cancer, childhood bladder carcinoma, childhood childhood bladder carcinoma https://rarediseases.info.nih.gov/diseases/9305/bladder-cancer-childhood MONDO:0022580 A syndrome characterized by expressionless facies, thickened facial skin, telecanthus with blepharophimosis, lacrimal duct anomalies, unusual nasal shape, and mild excess interdigital webbing. blepharo naso facial syndrome van Maldergem type https://rarediseases.info.nih.gov/diseases/902/blepharo-naso-facial-syndrome-van-maldergem-type MONDO:0022586 bone dysplasia Moore type https://rarediseases.info.nih.gov/diseases/923/bone-dysplasia-moore-type MONDO:0022587 bone dysplasia corpus callosum agenesis https://rarediseases.info.nih.gov/diseases/921/bone-dysplasia-corpus-callosum-agenesis MONDO:0022598 brachydactyly absence of distal phalanges https://rarediseases.info.nih.gov/diseases/961/brachydactyly-absence-of-distal-phalanges MONDO:0022599 brachydactyly anonychia https://rarediseases.info.nih.gov/diseases/962/brachydactyly-anonychia MONDO:0022602 brachydactyly small stature face anomalies https://rarediseases.info.nih.gov/diseases/974/brachydactyly-small-stature-face-anomalies MONDO:0022603 brachydactyly tibial hypoplasia https://rarediseases.info.nih.gov/diseases/977/brachydactyly-tibial-hypoplasia MONDO:0022606 A disease that involves the pharyngeal system development. disease of pharyngeal system development disorder of pharyngeal system development pharyngeal system development disease branchial arch disease MONDO:0022607 A Brenner tumor that involves the vagina. extraovarian Brenner tumor of the vagina vagina Brenner tumor Brenner tumor of the vagina extraovarian Brenner tumor of the vagina https://rarediseases.info.nih.gov/diseases/10006/brenner-tumor-of-the-vagina MONDO:0022608 brittle bone syndrome lethal type https://rarediseases.info.nih.gov/diseases/1018/brittle-bone-syndrome-lethal-type MONDO:0022609 bronchial carcinoids bronchial adenomas/carcinoids childhood https://rarediseases.info.nih.gov/diseases/9313/bronchial-adenomascarcinoids-childhood MONDO:0022610 bronchiectasis oligospermia https://rarediseases.info.nih.gov/diseases/1023/bronchiectasis-oligospermia MONDO:0022611 mesomelia, radial hypoplasia bifid thumb unusual facies mesomelic dwarfism, skeletal abnormalities, and ectodermal dysplasia Brunoni syndrome MONDO:0022612 Brunsting Perry syndrome cicatricial pemphigoid of the Brunsting-Perry type localized cicatricial pemphigoid Brunsting-Perry syndrome https://rarediseases.info.nih.gov/diseases/10454/brunsting-perry-syndrome MONDO:0022613 bruyn scheltens syndrome https://rarediseases.info.nih.gov/diseases/1034/bruyn-scheltens-syndrome MONDO:0022615 burn goodship syndrome https://rarediseases.info.nih.gov/diseases/1041/burn-goodship-syndrome MONDO:0022618 BMS-3 Psychiatric disorders coexisting with burning mouth syndrome type 3 burning mouth syndrome burning mouth syndrome type 3 https://rarediseases.info.nih.gov/diseases/8558/burning-mouth-syndrome-type-3 MONDO:0022622 CDG syndrome type 4 congenital disorder of glycosylation syndrome type 4 congenital disorder of glycosylation syndrome type 4 https://rarediseases.info.nih.gov/diseases/1174/cdg-syndrome-type-4 MONDO:0022623 CDK4 linked melanoma https://rarediseases.info.nih.gov/diseases/1175/cdk4-linked-melanoma MONDO:0022633 camptodactyly joint contractures and facial skeletal dysplasia MONDO:0022634 camptodactyly and sacral vertebral fusion camptodactyly and sacral vertebral fusion (subtype) camptodactyly vertebral fusion https://rarediseases.info.nih.gov/diseases/1070/camptodactyly-vertebral-fusion MONDO:0022636 candida glabrata Torulopsis glabrata (formerly) candida glabrata infection https://rarediseases.info.nih.gov/diseases/8171/candida-glabrata MONDO:0022639 Cantu sanchez-corona Garcia-Cruz syndrome https://rarediseases.info.nih.gov/diseases/1082/cantu-sanchez-corona-garcia-cruz-syndrome MONDO:0022642 A rare carcinoid tumor that occurs during childhood. carcinoid tumor (disease) of childhood childhood carcinoid tumor childhood carcinoid tumor (disease) pediatric carcinoid tumor (disease) carcinoid tumor childhood childhood carcinoid tumor https://rarediseases.info.nih.gov/diseases/9315/carcinoid-tumor-childhood MONDO:0022643 A carcinoma that involves the laryngeal vocal fold. carcinoma of laryngeal vocal fold laryngeal vocal fold carcinoma carcinoma of the vocal tract MONDO:0022644 Cardiac hydatidosis cardiac hydatid cysts with intracavitary expansion https://rarediseases.info.nih.gov/diseases/199/cardiac-hydatid-cysts-with-intracavitary-expansion MONDO:0022645 cardioencephalomyopathy https://rarediseases.info.nih.gov/diseases/10673/cardioencephalomyopathy MONDO:0022646 cardiofacial syndrome short limbs https://rarediseases.info.nih.gov/diseases/1097/cardiofacial-syndrome-short-limbs MONDO:0022647 cardiomelic syndrome stratton Koehler type https://rarediseases.info.nih.gov/diseases/1099/cardiomelic-syndrome-stratton-koehler-type MONDO:0022648 A specific change in the MTTK gene causes a condition characterized by weakened heart muscle (cardiomyopathy) and hearing loss. Affected individuals may also have myopathy and ataxia. This mutation replaces the DNA building block (nucleotide) guanine with the nucleotide adenine at position 8363 (written as G8363A) within the gene. It is unclear how this alteration in the MTTK gene results in cardiomyopathy, hearing loss, and other symptoms. cardiomyopathy and deafness due to tRNA lysine gene mutation cardiomyopathy and deafness due to MTTK gene mutation cardiomyopathy and deafness due to tRNA lysine gene mutation https://rarediseases.info.nih.gov/diseases/1108/cardiomyopathy-and-deafness-due-to-trna-lysine-gene-mutation MONDO:0022650 cardiomyopathy diabetes deafness https://rarediseases.info.nih.gov/diseases/1103/cardiomyopathy-diabetes-deafness MONDO:0022653 cardiomyopathy due to anthracyclines https://rarediseases.info.nih.gov/diseases/1107/cardiomyopathy-due-to-anthracyclines MONDO:0022654 cardiomyopathy-hypogonadism-collagenoma syndrome cardiomyopathy hypogonadism collagenoma syndrome MONDO:0022655 cardiomyopathy hypogonadism metabolic anomalies https://rarediseases.info.nih.gov/diseases/1109/cardiomyopathy-hypogonadism-metabolic-anomalies MONDO:0022656 cardiomyopathy spherocytosis https://rarediseases.info.nih.gov/diseases/1110/cardiomyopathy-spherocytosis MONDO:0022662 carpo tarsal osteolysis recessive https://rarediseases.info.nih.gov/diseases/1129/carpo-tarsal-osteolysis-recessive MONDO:0022666 cassavism https://rarediseases.info.nih.gov/diseases/10442/cassavism MONDO:0022672 A syndromic cataract that has autosomal dominant inheritance. cataract congenital autosomal dominant autosomal dominant cataract https://rarediseases.info.nih.gov/diseases/1143/cataract-congenital-autosomal-dominant MONDO:0022673 CCP PCC autosomal dominant nonnuclear polymorphic congenital cataract cataract congenital dominant non nuclear cataract, Nonnuclear polymorphic congenital, autosomal dominant cataract, polymorphic congenital autosomal dominant non-nuclear cataract https://rarediseases.info.nih.gov/diseases/1144/cataract-congenital-dominant-non-nuclear MONDO:0022675 cataract skeletal anomalies https://rarediseases.info.nih.gov/diseases/1158/cataract-skeletal-anomalies MONDO:0022682 hydrocephalus cataract microphthalmos cennamo gangemi syndrome https://rarediseases.info.nih.gov/diseases/1179/cennamo-gangemi-syndrome MONDO:0022685 cerebellar agenesis https://rarediseases.info.nih.gov/diseases/1187/cerebellar-agenesis MONDO:0022687 Degeneration of the cerebellum. It may be an inherited condition, a paraneoplastic syndrome, or secondary to autoimmune disorders. Brain degeneration cerebellar Degeneration cerebellar degeneration cerebellum neurodegenerative disease neurodegenerative disease of cerebellum cerebral degeneration cerebellar degeneration https://rarediseases.info.nih.gov/diseases/6019/cerebellar-degeneration MONDO:0022691 Cerebelloolivary atrophy cerebello-olivary atrophy https://rarediseases.info.nih.gov/diseases/1198/cerebello-olivary-atrophy MONDO:0022693 cerebral calcification cerebellar hypoplasia https://rarediseases.info.nih.gov/diseases/1201/cerebral-calcification-cerebellar-hypoplasia MONDO:0022694 cerebral calcifications opalescent teeth phosphaturia https://rarediseases.info.nih.gov/diseases/1202/cerebral-calcifications-opalescent-teeth-phosphaturia MONDO:0022697 A subtype of cerebral palsy characterized by involuntary, purposeless writhing movements which affect the hands, feet, arms, and legs; the face and tongue may be affected as well, leading to involuntary grimacing, drooling, dysarthria and difficulty eating. athetoid cerebral palsy athetoid dyskinetic cerebral palsy dyskinetic cerebral palsy ADCP cerebral palsy dyskinetic athetoid cerebral palsy https://rarediseases.info.nih.gov/diseases/10449/cerebral-palsy-athetoid MONDO:0022699 spastic hemiplegia cerebral palsy spastic hemiplegic cerebral palsy cerebral palsy spastic hemiplegic https://rarediseases.info.nih.gov/diseases/10448/cerebral-palsy-spastic-hemiplegic MONDO:0022700 spastic monoplegia cerebral palsy spastic monoplegic cerebral palsy cerebral palsy spastic monoplegic https://rarediseases.info.nih.gov/diseases/10446/cerebral-palsy-spastic-monoplegic MONDO:0022712 Chemke Oliver Mallek syndrome Chemke-Oliver-Mallek syndrome multiple ophthalmic anomalies and digital hypoplasia oculo digital syndrome https://rarediseases.info.nih.gov/diseases/4025/oculo-digital-syndrome MONDO:0022714 Chester porphyria is a unique type of porphyria with the signs and symptoms of acute intermittent porphyria (AIP) and the biochemical defects of both AIP and variegate porphyria (VP). Chester porphyria does not conform to any of the recognized types of acute porphyria. The symptoms associated with Chester porphyria are similar to those observed in other acute porphyrias. Treatment is symptomatic. PORC porphyria, Chester type chester porphyria https://rarediseases.info.nih.gov/diseases/10185/chester-porphyria MONDO:0022715 Arnold Chiari malformation type III Chiari malformation type III Chiari type III malformation Chiari malformation type 3 https://rarediseases.info.nih.gov/diseases/9233/chiari-malformation-type-3 MONDO:0022716 Arnold Chiari malformation type IV Chiari malformation type IV Chiari type IV malformation Chiari malformation type 4 https://rarediseases.info.nih.gov/diseases/9234/chiari-malformation-type-4 MONDO:0022723 chondrodysplasia chondrodysplasia MONDO:0022729 chondrodysplasia punctata with steroid sulfatase deficiency https://rarediseases.info.nih.gov/diseases/6050/chondrodysplasia-punctata-with-steroid-sulfatase-deficiency MONDO:0022733 choreoacanthocytosis amyotrophic https://rarediseases.info.nih.gov/diseases/1306/choreoacanthocytosis-amyotrophic MONDO:0022734 chorioretinopathy dominant form microcephaly https://rarediseases.info.nih.gov/diseases/1308/chorioretinopathy-dominant-form-microcephaly MONDO:0022735 choroid plexus cyst CPC - choroid plexus cyst choroid plexus cyst https://rarediseases.info.nih.gov/diseases/1309/choroid-plexus-cyst MONDO:0022736 Occupational inhalation disease Occupational lung disease Occupational lung disorder Occupational pulmonary disease Occupational respiratory disease occupational lung disease MONDO:0022737 This is an X-linked recessive retinal degenerative disease that leads to degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye. Hypopituitarism is the decreased (hypo) secretion of one or more of the eight hormones normally produced by the pituitary gland at the base of the brain. choroideremia hypopituitarism choroideraemia co-occurrent with hypopituitarism choroideraemia hypopituitarism choroideremia co-occurrent with hypopituitarism choroideremia hypopituitarism https://rarediseases.info.nih.gov/diseases/1312/choroideremia-hypopituitarism MONDO:0022739 Christian demyer franken syndrome https://rarediseases.info.nih.gov/diseases/1315/christian-demyer-franken-syndrome MONDO:0022740 Christian Johnson angenieta syndrome https://rarediseases.info.nih.gov/diseases/1316/christian-johnson-angenieta-syndrome MONDO:0022742 Asthma attacks caused, triggered, or exacerbated by OCCUPATIONAL EXPOSURE. occupational asthma Asthma, Occupational Asthmas, Occupational Industrial asthma Occupational Asthma Occupational Asthmas Occupational asthma industrial asthma occupational asthma MONDO:0022745 mixed dust pneumoconiosis Mixed dust pneumoconiosis labrador lung mixed dust pneumoconiosis MONDO:0022746 https://github.com/monarch-initiative/mondo/issues/3492 Duplication 13p chromosome 13p, trisomy trisomy 13p chromosome 13p duplication MONDO:0022749 A abnormal, congenital formation or mark on the skin or neighboring mucosa that does not show neoplastic growth. non-neoplastic nevus Non-Neoplastic Nevus Non-neoplastic nevus non-neoplastic nevus MONDO:0022752 https://github.com/monarch-initiative/mondo/issues/3664 RSTS, Severe Rubinstein-Taybi syndrome, Severe chromosome 16p13.3 deletion syndrome MONDO:0022754 A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 17. https://github.com/monarch-initiative/mondo/issues/3664 chromosome 17p deletion partial deletion of chromosome 17p partial deletion of the short arm of chromosome 17 partial monosomy of chromosome 17p partial monosomy of the short arm of chromosome 17 partial monosomy of the short arm of chromosome type 17 17p deletion 17p monosomy 17p- syndrome chromosome 17p deletion syndrome del(17p) deletion 17p deletion 17p syndrome interstitial deletion 17p loss of chromosome 17p monosomy 17p partial monosomy 17p chromosome 17p deletion MONDO:0022755 Mosaic monosomy 18 Mosaic monosomy chromosome 18 monosomy 18 mosaicism chromosome 18 mosaic monosomy MONDO:0022756 Chromosome 1q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on thelong arm (q) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. https://github.com/monarch-initiative/mondo/issues/3664 partial deletion of chromosome 1q partial deletion of the long arm of chromosome 1 partial deletion of the long arm of chromosome type 1 partial monosomy of chromosome 1q partial monosomy of the long arm of chromosome 1 1q deletion 1q monosomy deletion 1q monosomy 1q partial monosomy 1q chromosome 1q deletion https://rarediseases.info.nih.gov/diseases/8669/chromosome-1q-deletion MONDO:0022757 Chromosome 20 trisomy, (also called trisomy 20) is a condition in which a fetus or individual has an extra full or partial copy of chromosome 20 in some or allof of his/her cells. An extra full copy of chromosome 20 in all of a person's cells is rare, and almost all fetuses with this do not survive past the first trimester ofpregnancy. The presence of an extra copyof only part of chromosome 20 is called partial trisomy 20; and an extra copy of chromosome 20 in only some of a person's cells is called mosaic trisomy 20. Mosaic trisomy 20 is the most common type of chromosome 20 trisomy and is one of the more common chromosomal abnormalities found during prenatal diagnostic testing. Studies have shown that the child is normal in the vast majority of prenatally diagnosed individuals. However, features that have been reported include spinal abnormalities (including spinal stenosis, vertebral fusion, and kyphosis), hypotonia (decreased muscle tone), life long constipation, sloped shoulders, and significant learning disabilities despite normal intelligence. Trisomy 20 usually results from an error that occurs when an egg or sperm cell develops (before fertilization); mosaic trisomy 20 usually results from errors in cell division soon after fertilization. mosaic trisomy 20 trisomy 20 trisomy 20 mosaicism trisomy chromosome 20 chromosome 20 trisomy https://rarediseases.info.nih.gov/diseases/5332/chromosome-20-trisomy MONDO:0022758 Mosaic monosome 22 chromosome 22 mosaic monosomy chromosome 22, monosome mosaic MONDO:0022759 Trisomy 22 is a chromosome disorder in which an extra (third) copy of chromosome 22 is present in every cell of the body where there should normally only be two copies. This condition is commonly found in miscarriages, but only rarely in liveborn infants. Most affected individuals die shortly before or shortly after birth due to severe complications. Common features include an underdeveloped midface (midface hypoplasia)with flat/broad nasal bridge, malformed ears with pits or tags, cleft palate, hypertelorism (wide-spaced eyes), microcephaly and other cranial abnormalities, congenital heart disease, genital abnormalities, and intrauterine growth restriction (IUGR). chromosome 22 trisomy trisomy 22 https://rarediseases.info.nih.gov/diseases/5335/trisomy-22 MONDO:0022760 https://github.com/monarch-initiative/mondo/issues/3664 22q deletion 22q monosomy deletion 22q monosomy 22q partial deletion of chromosome 22q partial deletion of the long arm of chromosome 22 partial deletion of the long arm of chromosome type 22 partial monosomy 22q partial monosomy of chromosome 22q partial monosomy of the long arm of chromosome 22 chromosome 22q deletion https://rarediseases.info.nih.gov/diseases/8668/chromosome-22q-deletion MONDO:0022761 https://github.com/monarch-initiative/mondo/issues/3492 chromosome 3 duplication syndrome MONDO:0022762 https://github.com/monarch-initiative/mondo/issues/3664 4p deletion 4p monosomy chromosome 4p deletion deletion 4p monosomy 4p partial deletion of chromosome 4p partial deletion of the short arm of chromosome 4 partial deletion of the short arm of chromosome type 4 partial monosomy 4p partial monosomy of chromosome 4p partial monosomy of the short arm of chromosome 4 chromosome 4 short arm deletion MONDO:0022765 chronic demyelinizing neuropathy with IgM monoclonal https://rarediseases.info.nih.gov/diseases/1352/chronic-demyelinizing-neuropathy-with-igm-monoclonal MONDO:0022768 chronic polyradiculoneuritis https://rarediseases.info.nih.gov/diseases/1355/chronic-polyradiculoneuritis MONDO:0022769 ciliary dyskinesia-bronchiectasis https://rarediseases.info.nih.gov/diseases/1362/ciliary-dyskinesia-bronchiectasis MONDO:0022770 circumscribed cutaneous aplasia of the vertex https://rarediseases.info.nih.gov/diseases/1365/circumscribed-cutaneous-aplasia-of-the-vertex MONDO:0022771 circumscribed disseminated keratosis Jadassohn lew type https://rarediseases.info.nih.gov/diseases/1366/circumscribed-disseminated-keratosis-jadassohn-lew-type MONDO:0022772 A vascular sarcoma that commonly occurs in the lower extremities. It occurs predominantly in elderly male patients of southern European ancestry. It is characterized by the presence of purple, red-blue, or dark brown macular lesions, plaques and nodules. This disease is usually slow growing, although it can spread to the lungs and the gastrointestinal tract. If necessary, cutaneous lesions can be treated with radiation. Kaposi sarcoma classical type Kaposi sarcoma, classic Kaposi's sarcoma, classical type classic Kaposi sarcoma classic Kaposi's sarcoma classic Kaposi sarcoma MONDO:0022775 cleft lip and palate malrotation cardiopathy https://rarediseases.info.nih.gov/diseases/1371/cleft-lip-and-palate-malrotation-cardiopathy MONDO:0022776 cleft lip and/or palate with mucous cysts of lower https://rarediseases.info.nih.gov/diseases/1372/cleft-lip-andor-palate-with-mucous-cysts-of-lower MONDO:0022777 cleft lip palate dysmorphism kumar type https://rarediseases.info.nih.gov/diseases/1375/cleft-lip-palate-dysmorphism-kumar-type MONDO:0022778 cleft lip palate intellectual disability corneal opacity https://rarediseases.info.nih.gov/diseases/1380/cleft-lip-palate-mental-retardation-corneal-opacity MONDO:0022779 cleft lip palate oligodontia syndactyly pili torti https://rarediseases.info.nih.gov/diseases/1381/cleft-lip-palate-oligodontia-syndactyly-pili-torti MONDO:0022780 cleft lip palate pituitary deficiency https://rarediseases.info.nih.gov/diseases/1382/cleft-lip-palate-pituitary-deficiency MONDO:0022781 cleft lip palate-tetraphocomelia https://rarediseases.info.nih.gov/diseases/1383/cleft-lip-palate-tetraphocomelia MONDO:0022782 cleft lower lip cleft lateral canthi chorioretinal https://rarediseases.info.nih.gov/diseases/1386/cleft-lower-lip-cleft-lateral-canthi-chorioretinal MONDO:0022785 cleft palate cardiac defect ectrodactyly https://rarediseases.info.nih.gov/diseases/1387/cleft-palate-cardiac-defect-ectrodactyly MONDO:0022786 cleft palate colobomata radial synostosis deafness https://rarediseases.info.nih.gov/diseases/1388/cleft-palate-colobomata-radial-synostosis-deafness MONDO:0022787 cleft palate heart disease polydactyly absent tibia https://rarediseases.info.nih.gov/diseases/1389/cleft-palate-heart-disease-polydactyly-absent-tibia MONDO:0022790 bifid tongue cleft tongue syndrome cleft tongue https://rarediseases.info.nih.gov/diseases/1395/cleft-tongue MONDO:0022791 Sondheimer syndrome coarse face hypotonia constipation https://rarediseases.info.nih.gov/diseases/1412/coarse-face-hypotonia-constipation MONDO:0022792 Coccygodynia is a rare condition in that causes pain in and around the coccyx (tailbone). Although various causes have been described for the condition, the more commoncausesare direct falls and injury. coccydynia coccygodynia https://rarediseases.info.nih.gov/diseases/5168/coccygodynia MONDO:0022795 coenzyme Q cytochrome c reductase deficiency of deficiency of coenzyme q cytochrome c reductase https://rarediseases.info.nih.gov/diseases/1419/coenzyme-q-cytochrome-c-reductase-deficiency-of MONDO:0022798 Cohen lockood wyborney syndrome https://rarediseases.info.nih.gov/diseases/1423/cohen-lockood-wyborney-syndrome MONDO:0022799 Cold urticaria is a condition that affects the skin. Signs and symptoms generally include reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent within 2-5 minutes after exposure and can last for 1-2 hours. The exact cause of cold urticaria is poorly understood in most cases. Rarely, it may be associated with an underlying blood condition or infectious disease. Treatment generally consists of patient education, avoiding exposures that may trigger a reaction, and/or medications. cold contact urticaria primary idiopathic cold urticaria urticaria idiopathic cold cold urticaria https://rarediseases.info.nih.gov/diseases/6131/cold-urticaria MONDO:0022800 Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene. https://github.com/monarch-initiative/mondo/issues/3574 https://github.com/monarch-initiative/mondo/issues/3698 https://github.com/monarch-initiative/mondo/issues/4948 COL2A1 disease or disorder collagenopathy type 2 alpha 1 disease or disorder caused by mutation in COL2A1 COL2A1 cartilage collagen collagen II type 2 collagenopathy https://rarediseases.info.nih.gov/diseases/9246/collagenopathy-type-2-alpha-1 MONDO:0022802 Collins Sakati syndrome Collins-Sakati syndrome https://rarediseases.info.nih.gov/diseases/1429/collins-sakati-syndrome MONDO:0022803 coloboma porencephaly hydronephrosis https://rarediseases.info.nih.gov/diseases/1439/coloboma-porencephaly-hydronephrosis MONDO:0022804 colobomata unilobar lung heart defect https://rarediseases.info.nih.gov/diseases/1442/colobomata-unilobar-lung-heart-defect MONDO:0022805 colonic malakoplakia https://rarediseases.info.nih.gov/diseases/6137/colonic-malakoplakia MONDO:0022809 Colver Steer Godman syndrome https://rarediseases.info.nih.gov/diseases/1448/colver-steer-godman-syndrome MONDO:0022810 Combarros Calleja Leno syndrome https://rarediseases.info.nih.gov/diseases/1449/combarros-calleja-leno-syndrome MONDO:0022812 A disorder with basis in disruption of a complement receptor. complement receptor deficiency complement receptor deficiency https://rarediseases.info.nih.gov/diseases/9527/complement-receptor-deficiency MONDO:0022815 https://github.com/monarch-initiative/mondo/issues/4069 congenital absence of the sternocleidomastoid muscle https://rarediseases.info.nih.gov/diseases/9972/congenital-absence-of-the-sternocleidomastoid-muscle MONDO:0022817 https://github.com/monarch-initiative/mondo/issues/4069 congenital amputation https://rarediseases.info.nih.gov/diseases/1471/congenital-amputation MONDO:0022818 https://github.com/monarch-initiative/mondo/issues/4069 congenital aneurysms of the great vessels https://rarediseases.info.nih.gov/diseases/1472/congenital-aneurysms-of-the-great-vessels MONDO:0022819 https://github.com/monarch-initiative/mondo/issues/4069 congenital arteriovenous shunt https://rarediseases.info.nih.gov/diseases/6150/congenital-arteriovenous-shunt MONDO:0022820 congenital articular rigidity https://rarediseases.info.nih.gov/diseases/1473/congenital-articular-rigidity MONDO:0022821 https://github.com/monarch-initiative/mondo/issues/4069 congenital benign spinal muscular atrophy dominant https://rarediseases.info.nih.gov/diseases/1474/congenital-benign-spinal-muscular-atrophy-dominant MONDO:0022822 congenital cardiovascular shunt https://rarediseases.info.nih.gov/diseases/6154/congenital-cardiovascular-shunt MONDO:0022823 congenital contractures https://rarediseases.info.nih.gov/diseases/1477/congenital-contractures MONDO:0022824 congenital craniosynostosis maternal hyperthyroiditis https://rarediseases.info.nih.gov/diseases/1478/congenital-craniosynostosis-maternal-hyperthyroiditis MONDO:0022825 https://github.com/monarch-initiative/mondo/issues/4069 CCE congenital cystic eye https://rarediseases.info.nih.gov/diseases/10617/congenital-cystic-eye MONDO:0022826 https://github.com/monarch-initiative/mondo/issues/4069 congenital cystic eye multiple ocular and intracranial anomalies https://rarediseases.info.nih.gov/diseases/1479/congenital-cystic-eye-multiple-ocular-and-intracranial-anomalies MONDO:0022831 https://github.com/monarch-initiative/mondo/issues/4069 congenital heart disease ptosis hypodontia craniostosis https://rarediseases.info.nih.gov/diseases/1483/congenital-heart-disease-ptosis-hypodontia-craniostosis MONDO:0022832 https://github.com/monarch-initiative/mondo/issues/4069 congenital heart disease radio ulnar synostosis intellectual disability https://rarediseases.info.nih.gov/diseases/1484/congenital-heart-disease-radio-ulnar-synostosis-mental-retardation MONDO:0022839 congenital HIV neonatal HIV neonatal human immunodeficiency virus congenital human immunodeficiency virus https://rarediseases.info.nih.gov/diseases/10328/congenital-human-immunodeficiency-virus MONDO:0022841 https://github.com/monarch-initiative/mondo/issues/4069 congenital hypotrichosis milia https://rarediseases.info.nih.gov/diseases/1488/congenital-hypotrichosis-milia MONDO:0022843 https://github.com/monarch-initiative/mondo/issues/4069 congenital mumps https://rarediseases.info.nih.gov/diseases/1498/congenital-mumps MONDO:0022846 https://github.com/monarch-initiative/mondo/issues/4069 congenital nonhemolytic jaundice https://rarediseases.info.nih.gov/diseases/6177/congenital-nonhemolytic-jaundice MONDO:0022849 congenital stenosis of cervical medullary canal https://rarediseases.info.nih.gov/diseases/1504/congenital-stenosis-of-cervical-medullary-canal MONDO:0022851 A severe form of Hallermann-Streiff syndrome, observed in one family. This is an n-of-1 use case where only one patient or family has been described with this disorder. Dennis Fairhurst Moore syndrome Hallermam Streiff like syndrome Dennis-Fairhurst-Moore syndrome https://rarediseases.info.nih.gov/diseases/290/dennis-fairhurst-moore-syndrome MONDO:0022854 https://github.com/monarch-initiative/mondo/issues/4069 congenital unilateral pulmonary hypoplasia https://rarediseases.info.nih.gov/diseases/1507/congenital-unilateral-pulmonary-hypoplasia MONDO:0022855 https://github.com/monarch-initiative/mondo/issues/4069 congenital vagal hyperreflexivity https://rarediseases.info.nih.gov/diseases/1508/congenital-vagal-hyperreflexivity MONDO:0022858 continuous spike-wave during slow sleep syndrome https://rarediseases.info.nih.gov/diseases/1513/continuous-spike-wave-during-slow-sleep-syndrome MONDO:0022859 A congenital anatomic anomaly in which the heart has only two chambers. Cor Biloculare TWO-chambered heart cor biloculare absence of atrial and ventricular septa cor biloculare https://rarediseases.info.nih.gov/diseases/6193/cor-biloculare MONDO:0022862 cormier rustin munnich syndrome https://rarediseases.info.nih.gov/diseases/1523/cormier-rustin-munnich-syndrome MONDO:0022863 corneal crystals myopathy neuropathy https://rarediseases.info.nih.gov/diseases/1526/corneal-crystals-myopathy-neuropathy MONDO:0022865 corneal dystrophy ichthyosis microcephaly intellectual disability https://rarediseases.info.nih.gov/diseases/1528/corneal-dystrophy-ichthyosis-microcephaly-mental-retardation MONDO:0022866 corneal dystrophy pigmentary anomaly malabsorption https://rarediseases.info.nih.gov/diseases/1530/corneal-dystrophy-pigmentary-anomaly-malabsorption MONDO:0022869 https://github.com/monarch-initiative/mondo/issues/4069 coronary arteries congenital malformation https://rarediseases.info.nih.gov/diseases/1534/coronary-arteries-congenital-malformation MONDO:0022871 corpus callosum agenesis of blepharophimosis robin type https://rarediseases.info.nih.gov/diseases/1538/corpus-callosum-agenesis-of-blepharophimosis-robin-type MONDO:0022872 corpus callosum dysgenesis X-linked recessive https://rarediseases.info.nih.gov/diseases/1543/corpus-callosum-dysgenesis-x-linked-recessive MONDO:0022873 corpus callosum dysgenesis cleft spasm https://rarediseases.info.nih.gov/diseases/1541/corpus-callosum-dysgenesis-cleft-spasm MONDO:0022874 corpus callosum dysgenesis hypopituitarism https://rarediseases.info.nih.gov/diseases/1542/corpus-callosum-dysgenesis-hypopituitarism MONDO:0022875 cortada Koussef Matsumoto syndrome https://rarediseases.info.nih.gov/diseases/1546/cortada-koussef-matsumoto-syndrome MONDO:0022876 Cortes Lacassie syndrome https://rarediseases.info.nih.gov/diseases/1547/cortes-lacassie-syndrome MONDO:0022883 craniofacial and skeletal defects https://rarediseases.info.nih.gov/diseases/1570/craniofacial-and-skeletal-defects MONDO:0022884 Van Biervliet Hendrickx Van Ertbruggen syndrome craniofacial dysostosis arthrogryposis progeroid appearence https://rarediseases.info.nih.gov/diseases/1573/craniofacial-dysostosis-arthrogryposis-progeroid-appearence MONDO:0022887 craniofrontonasal syndrome Teebi type https://rarediseases.info.nih.gov/diseases/1579/craniofrontonasal-syndrome-teebi-type MONDO:0022888 craniostenosis cataract https://rarediseases.info.nih.gov/diseases/1584/craniostenosis-cataract MONDO:0022889 https://github.com/monarch-initiative/mondo/issues/4069 craniostenosis with congenital heart disease intellectual disability https://rarediseases.info.nih.gov/diseases/1585/craniostenosis-with-congenital-heart-disease-mental-retardation MONDO:0022890 craniosynostosis Fontaine type https://rarediseases.info.nih.gov/diseases/1595/craniosynostosis-fontaine-type MONDO:0022891 craniosynostosis Maroteaux Fonfria type https://rarediseases.info.nih.gov/diseases/1598/craniosynostosis-maroteaux-fonfria-type MONDO:0022892 craniosynostosis alopecia brain defect https://rarediseases.info.nih.gov/diseases/1586/craniosynostosis-alopecia-brain-defect MONDO:0022893 craniosynostosis arthrogryposis cleft palate https://rarediseases.info.nih.gov/diseases/1587/craniosynostosis-arthrogryposis-cleft-palate MONDO:0022894 craniosynostosis autosomal dominant https://rarediseases.info.nih.gov/diseases/1588/craniosynostosis-autosomal-dominant MONDO:0022895 craniosynostosis cleft lip palate arthrogryposis https://rarediseases.info.nih.gov/diseases/1590/craniosynostosis-cleft-lip-palate-arthrogryposis MONDO:0022896 craniosynostosis contractures cleft https://rarediseases.info.nih.gov/diseases/1591/craniosynostosis-contractures-cleft MONDO:0022897 craniosynostosis exostoses nevus epibulbar dermoid https://rarediseases.info.nih.gov/diseases/1593/craniosynostosis-exostoses-nevus-epibulbar-dermoid MONDO:0022898 craniosynostosis intellectual disability heart defects https://rarediseases.info.nih.gov/diseases/1600/craniosynostosis-mental-retardation-heart-defects MONDO:0022899 crawfurd syndrome https://rarediseases.info.nih.gov/diseases/1607/crawfurd-syndrome MONDO:0022900 Congenital hypothyroidism in which fetal deficiency was severe because of complete absence (athyreosis) of the gland. Physical features may include a larger anterior fontanel, persistence of a posterior fontanel, an umbilical hernia, and a large tongue (macroglossia) https://github.com/monarch-initiative/mondo/issues/4069 cretinism athyreotic athyreotic congenital hypothyroidism https://rarediseases.info.nih.gov/diseases/1610/cretinism-athyreotic MONDO:0022901 An Crohn disease involving a pathogenic inflammatory response in the esophagus. Crohn's disease of the esophagus Crohn disease of the esophagus MONDO:0022904 cryofibrinogenemia cryofibrinogenemia https://rarediseases.info.nih.gov/diseases/9908/cryofibrinogenemia MONDO:0022907 cutaneous sclerosis https://rarediseases.info.nih.gov/diseases/9752/cutaneous-sclerosis MONDO:0022908 cutis gyratum acanthosis nigricans craniosynostosis https://rarediseases.info.nih.gov/diseases/1635/cutis-gyratum-acanthosis-nigricans-craniosynostosis MONDO:0022909 cutis laxa osteoporosis https://rarediseases.info.nih.gov/diseases/1637/cutis-laxa-osteoporosis MONDO:0022912 cutis verticis gyrata mental deficiency https://rarediseases.info.nih.gov/diseases/1644/cutis-verticis-gyrata-mental-deficiency MONDO:0022913 cutler bass Romshe syndrome https://rarediseases.info.nih.gov/diseases/1646/cutler-bass-romshe-syndrome MONDO:0022919 A disease that has its basis in the disruption of cytokine receptor activity. cytokine receptor activity disease disorder of cytokine receptor activity Editor note: todo, align cytokine receptor deficiency https://rarediseases.info.nih.gov/diseases/9530/cytokine-receptor-deficiency MONDO:0022930 Aughton sloan Milad syndrome Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia https://rarediseases.info.nih.gov/diseases/137/dandy-walker-malformation-with-nasopharyngeal-teratoma-and-diaphragmatic-hernia MONDO:0022932 An n-of-1 disease characterized by hearing loss, almost white hair, a psoriasiform rash with hyperkaratotic papillomata, muscle contractures, and depressed granulocyte and monocyte chemotaxis, dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and muscle contractures, and depressed granulocyte and monocyte chemotaxis. This is an n-of-1 use case where only one patient or family has been described with this disorder. Davenport Donlan syndrome dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and depressed chemotaxis Editor note: this is obsoleted in ORDO but not Orphanet. Orphanet, UMLS, GARD and MESH all have entries for this but with little metadata. The origin seems to be a 1979 publication describing a single family - PMID:526579 Davenport-Donlan syndrome https://rarediseases.info.nih.gov/diseases/1672/davenport-donlan-syndrome MONDO:0022934 https://github.com/monarch-initiative/mondo/issues/5588 Lafer Davis syndrome intellectual disability unusual facies Davis Lafer type mental retardation unusual facies Davis Lafer type Davis Lafer syndrome https://rarediseases.info.nih.gov/diseases/1674/davis-lafer-syndrome MONDO:0022936 iris dysplasia, orbital hypertelorism, and psychomotor retardation de Hauwere Leroy adriaenssens syndrome MONDO:0022937 deafness conductive stapedial ear malformation facial palsy https://rarediseases.info.nih.gov/diseases/1684/deafness-conductive-stapedial-ear-malformation-facial-palsy MONDO:0022938 deafness goiter stippled epiphyses https://rarediseases.info.nih.gov/diseases/1689/deafness-goiter-stippled-epiphyses MONDO:0022941 deafness hypospadias metacarpal and metatarsal syndrome https://rarediseases.info.nih.gov/diseases/1692/deafness-hypospadias-metacarpal-and-metatarsal-syndrome MONDO:0022942 deafness mesenteric diverticula of small bowel neuropathy https://rarediseases.info.nih.gov/diseases/1693/deafness-mesenteric-diverticula-of-small-bowel-neuropathy MONDO:0022945 deafness peripheral neuropathy arterial disease https://rarediseases.info.nih.gov/diseases/1701/deafness-peripheral-neuropathy-arterial-disease MONDO:0022946 deafness progressive cataract autosomal dominant https://rarediseases.info.nih.gov/diseases/1702/deafness-progressive-cataract-autosomal-dominant MONDO:0022948 Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhoea Deal Barratt Dillon syndrome MONDO:0022949 defective apolipoprotein b-100 https://rarediseases.info.nih.gov/diseases/1720/defective-apolipoprotein-b-100 MONDO:0022953 A disease that has its basis in the disruption of 1-pyrroline-5-carboxylate dehydrogenase activity. 1-pyrroline-5-carboxylate dehydrogenase activity disease disorder of 1-pyrroline-5-carboxylate dehydrogenase activity delta-1-pyrroline-5-carboxylate dehydrogenase deficiency https://rarediseases.info.nih.gov/diseases/1798/delta-1-pyrroline-5-carboxylate-dehydrogenase-deficiency MONDO:0022960 dermatocardioskeletal syndrome boronne type https://rarediseases.info.nih.gov/diseases/1812/dermatocardioskeletal-syndrome-boronne-type MONDO:0022963 A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population consisting mainly of neoplastic astrocytes. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO) DIA Desmoplastic astrocytoma of infancy Desmoplastic infantile astrocytoma desmoplastic infantile astrocytoma https://rarediseases.info.nih.gov/diseases/9617/desmoplastic-infantile-astrocytoma MONDO:0022965 A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population of neoplastic astrocytes together with a variable neuronal component. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as a large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO) DIG Desmoplastic infantile ganglioglioma desmoplastic infantile ganglioglioma https://rarediseases.info.nih.gov/diseases/8648/desmoplastic-infantile-ganglioglioma MONDO:0022968 Dextrocardia with situs inversus is a condition that is characterized by abnormal positioning of the heart and other internal organs. In people affected by dextrocardia, the tip of the heart points towards the right side of the chest instead of the left side. Situs inversus refers to the mirror-image reversal of the organs in the chest and abdominal cavity. Some affected people have no obvious signs or symptoms. However, a small percentage of people also have congenital heart defects, usually transposition of the great vessels. Dextrocardia with situs inversus can also be associated with primary ciliary dyskinesia (also known as Kartagener syndrome). Treatment typically depends on the heart or physical problems the person may have in addition to dextrocardia with situs inversus. situs inversus totalis dextrocardia with situs inversus https://rarediseases.info.nih.gov/diseases/6268/dextrocardia-with-situs-inversus MONDO:0022971 diabetes persistent mullerian ducts https://rarediseases.info.nih.gov/diseases/1840/diabetes-persistent-mullerian-ducts MONDO:0022972 Diabetic mastopathy are noncancerous lesions in the breast most commonly diagnosed in premenopausal women with type 1 diabetes. The cause of this condition is unknown. Symptoms may include hard, irregular, easily movable, discrete, painless breast mass(es). diabetic fibrous breast disease diabetic fibrous mastopathy lymphocytic mastitis lymphocytic mastopathy sclerosing lymphocytic lobulitis diabetic mastopathy https://rarediseases.info.nih.gov/diseases/8322/diabetic-mastopathy MONDO:0022975 diaphragmatic agenesis radial aplasia omphalocele https://rarediseases.info.nih.gov/diseases/1843/diaphragmatic-agenesis-radial-aplasia-omphalocele MONDO:0022977 diaphragmatic hernia exomphalos corpus callosum agenesis https://rarediseases.info.nih.gov/diseases/1846/diaphragmatic-hernia-exomphalos-corpus-callosum-agenesis MONDO:0022978 diaphragmatic hernia upper limb defects https://rarediseases.info.nih.gov/diseases/1847/diaphragmatic-hernia-upper-limb-defects MONDO:0022981 die Smulders droog van dijk syndrome https://rarediseases.info.nih.gov/diseases/1857/die-smulders-droog-van-dijk-syndrome MONDO:0022982 die Smulders Vles Fryns syndrome https://rarediseases.info.nih.gov/diseases/1858/die-smulders-vles-fryns-syndrome MONDO:0022983 Dieterich disease Dieterich's disease avascular necrosis of the metacarpal head Dieterich disease https://rarediseases.info.nih.gov/diseases/204/dieterichs-disease MONDO:0022985 cavernous haemangioma of the rectum diffuse cavernous hemangioma of the rectum https://rarediseases.info.nih.gov/diseases/10750/diffuse-cavernous-hemangioma-of-the-rectum MONDO:0022986 A very rare condition characterized by generalized proliferation of pulmonary neuroendocrine cells. It manifests as progressive cough and dyspnea. It is considered a precursor for pulmonary carcinoid tumor. DIP-NECH DIPNECH diffuse idiopathic pulmonary neuroendocrine cell hyperplasia diffuse idiopathic pulmonary neuroendocrine cell hyperplasia https://rarediseases.info.nih.gov/diseases/10780/diffuse-idiopathic-pulmonary-neuroendocrine-cell-hyperplasia MONDO:0022989 diomedi bernardi placidi syndrome https://rarediseases.info.nih.gov/diseases/1870/diomedi-bernardi-placidi-syndrome MONDO:0022990 diphallus rachischisis imperforate anus https://rarediseases.info.nih.gov/diseases/1873/diphallus-rachischisis-imperforate-anus MONDO:0022991 Diploid-triploid mosaicism is a chromosome disorder. Individuals with diploid-triploid syndrome have some cells with three copies of each chromosome for a total of 69 chromosomes (called triploid cells) and some cells with the usual 2 copies of each chromosome for a total of 46 chromosomes (called diploid cells). Having two or more different cell types is called mosaicism. Diploid-triploid mosaicism can be associated withtruncal obesity, body/facial asymmetry, weak muscle tone (hypotonia), delays in growth,mild differences infacial features, fusion or webbing between some of the fingers and/or toes (syndactyly) and irregularities in the skin pigmentation. Intellectual disabilities may be present but are highly variable from person to person ranging from mild to more severe. The chromosome disorder is usually not present in the blood; a skin biopsy, or analyzing cells in the urine is needed to detect the triploid cells. Growth retardation, truncal obesity, facial asymmetry, hypotonia, small phallus, malformed low-set ears and micrognathia Mosaic triploidy diploid/triploid mixoploidy diploid/triploid mosaicism diploid-triploid mosaicism https://rarediseases.info.nih.gov/diseases/10715/diploid-triploid-mosaicism MONDO:0022993 Diabetes insipidus caused by excessive intake of water due to psychological factors or damage to the thirst-regulating mechanism. primary polydipsia Dipsogenic diabetes insipidus dipsogenic diabetes insipidus dipsogenic diabetes insipidus https://rarediseases.info.nih.gov/diseases/10703/dipsogenic-diabetes-insipidus MONDO:0022998 Moore Weaver syndrome distal arthrogryposis Moore weaver type MONDO:0022999 https://github.com/monarch-initiative/mondo/issues/4069 distichiasis heart congenital anomalies https://rarediseases.info.nih.gov/diseases/1890/distichiasis-heart-congenital-anomalies MONDO:0023002 atrio-ventricular and ventriculo-arterial double Discordia corrected transposition double discordia https://rarediseases.info.nih.gov/diseases/1905/double-discordia MONDO:0023003 Editor note: consider making a grouping class with MONDO:0007469 double fingernail of fifth finger https://rarediseases.info.nih.gov/diseases/1906/double-fingernail-of-fifth-finger MONDO:0023005 double uterus-hemivagina-renal agenesis https://rarediseases.info.nih.gov/diseases/1910/double-uterus-hemivagina-renal-agenesis MONDO:0023006 doxorubicin induced cardiomyopathy https://rarediseases.info.nih.gov/diseases/6285/doxorubicin-induced-cardiomyopathy MONDO:0023007 A rare genetic disorder, characterized by under-development of bone marrow and neurological disorders such as weakness on one side of the body, agenesis of corpus callosum and hydrocephalus. Drachtman Weinblatt Sitarz syndrome marrow hypoplasia associated with congenital neurologic anomalies Drachtman Weinblatt Sitarz syndrome https://rarediseases.info.nih.gov/diseases/1913/drachtman-weinblatt-sitarz-syndrome MONDO:0023011 Wilson-Mikity syndrome wilson-mikity syndrome Pulmonary dysmaturity Pulmonary dysmaturity syndrome pulmonary dysmaturity Wilson-Mikity syndrome MONDO:0023013 Duker Weiss Siber syndrome microphthalmos, microencephaly, intellectual disability, agenesis of the corpus callosum, hypospadius, and cryptorchidism microphthalmos, microencephaly, mental retardation, agenesis of the corpus callosum, hypospadius, and cryptorchidism Duker-Weiss-Siber syndrome https://rarediseases.info.nih.gov/diseases/1918/duker-weiss-siber-syndrome MONDO:0023015 duodenal atresia tetralogy of fallot https://rarediseases.info.nih.gov/diseases/1919/duodenal-atresia-tetralogy-of-fallot MONDO:0023016 duplication of leg mirror foot https://rarediseases.info.nih.gov/diseases/1976/duplication-of-leg-mirror-foot MONDO:0023017 duplication of the thumb unilateral biphalangeal https://rarediseases.info.nih.gov/diseases/1977/duplication-of-the-thumb-unilateral-biphalangeal MONDO:0023018 dupont sellier chochillon syndrome https://rarediseases.info.nih.gov/diseases/1983/dupont-sellier-chochillon-syndrome MONDO:0023019 dwarfism bluish sclerae https://rarediseases.info.nih.gov/diseases/1984/dwarfism-bluish-sclerae MONDO:0023020 dwarfism deafness retinitis pigmentosa https://rarediseases.info.nih.gov/diseases/1985/dwarfism-deafness-retinitis-pigmentosa MONDO:0023021 dwarfism lethal type advanced bone age https://rarediseases.info.nih.gov/diseases/1986/dwarfism-lethal-type-advanced-bone-age MONDO:0023022 dwarfism thin bones multiple fractures https://rarediseases.info.nih.gov/diseases/1992/dwarfism-thin-bones-multiple-fractures MONDO:0023023 Inflammation of the lacrimal sac in a newborn due to blocked drainage of tears or infection. neonatal dacryocystitis Neonatal Dacryocystitis Neonatal dacryocystitis neonatal dacryocystitis MONDO:0023030 dysmorphism cleft palate loose skin https://rarediseases.info.nih.gov/diseases/2009/dysmorphism-cleft-palate-loose-skin MONDO:0023035 Eagle syndrome is characterized by recurrent pain in the middle part of the throat (oropharynx) and face. 'Classic Eagle syndrome' is typically seen in patients after throat trauma or tonsillectomy. Symptoms include dull and persistent throat pain that may radiate to the ear and worsen with rotation of the head. Other symptoms may include difficulty swallowing, feeling that there is something stuck in the throat, tinnitus, and neck or facial pain. A second form of Eagle syndrome unrelated to tonsillectomy causes compression of the vessel that carries blood to the brain, neck, and face (carotid artery). This form can cause headache. Eagle syndrome is due to a calcified stylohyoid ligament or an elongated styloid process. The styloid process is a pointed part of the temporal bone that serves as an anchor point for several muscles associated with the tongue and larynx. The mainstay treatment for Eagle syndrome is surgery to shorten the styloid process (styloidectomy). Medical management may include the use of pain and anti-inflammatory medications, antidepressants, and/or steroids. The overall success rate for treatment (medical or surgical) is about 80%. Eagle's syndrome elongated styloid process syndrome elongated styloid process which causes cervico facial pain tinnitus and otalgia styloid-stylohoid syndrome Eagle syndrome https://rarediseases.info.nih.gov/diseases/9401/eagle-syndrome MONDO:0023038 eccentrochondrodysplasia https://rarediseases.info.nih.gov/diseases/6314/eccentrochondrodysplasia MONDO:0023039 eccrine mucinous carcinoma https://rarediseases.info.nih.gov/diseases/10465/eccrine-mucinous-carcinoma MONDO:0023040 ectodermal dysplasia Bartalos type https://rarediseases.info.nih.gov/diseases/2043/ectodermal-dysplasia-bartalos-type MONDO:0023041 ectodermal dysplasia Berlin type https://rarediseases.info.nih.gov/diseases/2044/ectodermal-dysplasia-berlin-type MONDO:0023042 ectodermal dysplasia margarita type https://rarediseases.info.nih.gov/diseases/2050/ectodermal-dysplasia-margarita-type MONDO:0023043 absence of body & scalp hair, rounded nails, thin dental enamel, preaxial polydactyly of the feet, and unusual facial appearance ectodermal dysplasia alopecia preaxial polydactyly https://rarediseases.info.nih.gov/diseases/2040/ectodermal-dysplasia-alopecia-preaxial-polydactyly MONDO:0023045 ectodermal dysplasia arthrogryposis diabetes mellitus https://rarediseases.info.nih.gov/diseases/2042/ectodermal-dysplasia-arthrogryposis-diabetes-mellitus MONDO:0023046 ectodermal dysplasia blindness https://rarediseases.info.nih.gov/diseases/2045/ectodermal-dysplasia-blindness MONDO:0023048 ectodermal dysplasia neurosensory deafness https://rarediseases.info.nih.gov/diseases/2053/ectodermal-dysplasia-neurosensory-deafness MONDO:0023050 Van Den Ende Brunner syndrome ectrodactyly of lower limbs, congenital heart defect and characteristic facies ectrodactyly cardiopathy dysmorphism https://rarediseases.info.nih.gov/diseases/2063/ectrodactyly-cardiopathy-dysmorphism MONDO:0023054 Klumpke paralysis is a type of brachial palsy in newborns. Signs and symptoms include weakness and loss of movement of the arm and hand. Some babies experience drooping of the eyelid on the opposite side of the face as well. This symptom may also be referred to as Horner syndrome. Klumpke paralysis is caused by an injury to the nerves of the brachial plexus which may result from a difficult delivery. This injury can cause a stretching (neuropraxia), tearing (called avulsion when the tear is at the spine, and rupture when it is not), or scarring (neuroma) of the brachial plexus nerves. Most infants with Klumpke paralysis have the more mild form of injury (neuropraxia) and often recover within 6 months. klumpke's paralysis klumpke-dC)jerine paralysis Dejerine Klumpke Palsy Dejerine-Klumpke Palsy Dejerine-Klumpke palsy Klumpke Palsy Klumpke Paralysis Klumpke paralysis Klumpke's Palsy Klumpke's palsy Klumpke's paralysis Klumpke-DC)jerine brachial plexus injury Klumpke-DC)jerine paralysis Klumpke-Dejerine paralysis Klumpkes Palsy Lower Brachial Plexus Palsy Lower brachial plexus palsy Palsy, Dejerine-Klumpke Palsy, Klumpke's Paralysis of the Lower Brachial Plexus Paralysis, Klumpke klumpke paralysis klumpke's palsy klumpke-dC)jerine brachial plexus injury klumpke-dejerine paralysis klumpke's paralysis MONDO:0023059 https://github.com/monarch-initiative/mondo/issues/5588 multiple congenital anomalies, severe psychomotor retardation and symmetrical circumferential skin creases of arms and legs Elliott ludman Teebi syndrome https://rarediseases.info.nih.gov/diseases/189/elliott-ludman-teebi-syndrome MONDO:0023061 enamel hypoplasia cataract hydrocephaly https://rarediseases.info.nih.gov/diseases/2106/enamel-hypoplasia-cataract-hydrocephaly MONDO:0023062 encephalocele anencephaly https://rarediseases.info.nih.gov/diseases/2109/encephalocele-anencephaly MONDO:0023066 Wallis cremin Beighton syndrome enchondromatosis dwarfism deafness https://rarediseases.info.nih.gov/diseases/294/enchondromatosis-dwarfism-deafness MONDO:0023067 African Kaposi sarcoma African/endemic Kaposi sarcoma endemic Kaposi sarcoma https://rarediseases.info.nih.gov/diseases/10431/endemic-kaposi-sarcoma MONDO:0023068 engelhard yatziv syndrome https://rarediseases.info.nih.gov/diseases/2124/engelhard-yatziv-syndrome MONDO:0023069 enlarged vestibular aqueduct syndrome enlarged vestibular aqueduct large vestibular aqueduct syndrome enlarged vestibular aqueduct syndrome https://rarediseases.info.nih.gov/diseases/8651/enlarged-vestibular-aqueduct-syndrome MONDO:0023071 enterovirus antenatal infection https://rarediseases.info.nih.gov/diseases/2130/enterovirus-antenatal-infection MONDO:0023073 Eosinophilic cystitis (EC) is a rare inflammatory bladder condition caused by the build up of eosinophils in the bladder. The exact cause of this condition is not known. However, EC has been found in those with allergies and asthma, and in those with a history of bladder trauma or infection, open bladder surgery, or surgery for a bladder tumor. EC has also been found in those who take certain medications. eosinophilic cystitis eosinophilic cryptitis https://rarediseases.info.nih.gov/diseases/6346/eosinophilic-cryptitis https://rarediseases.info.nih.gov/diseases/6347/eosinophilic-cystitis MONDO:0023076 Eosinophilic pustular folliculitis (EPF) is a skin disorder characterized by recurring itchy, red or skin-colored bumps and pustules (bumps containing pus). The condition is named after the fact that skin biopsies of this disorder find eosinophils (a type of immune cell) around hair follicles. The papules mostly appear on the face, scalp, neck and trunk and may persist for weeks or months. EPF affects males more than females.There are several variants of EPF includingclassic eosinophilic pustular folliculitis (mainly occurring in adults in Japan); HIV-associated EPF, also referred to as immunosuppression-associated EPF; and infantile EPF (with onset from birth or within the first year of life). Whether these are distinct disorders rather than variants of one disorder is controversial, partly because the underlying cause of EFP is not known.Several treatments have been described with variable results, including various oral or topical medications and phototherapy. In patients with HIV-associated disease, antiretroviral therapy tends to greatly diminish symptoms or even eliminate the condition. EPF Ofuji disease Ofuji's disease eosinophilic folliculitis eosinophilic folliculitis, pustular eosinophilic pustular folliculitis https://rarediseases.info.nih.gov/diseases/8534/eosinophilic-pustular-folliculitis MONDO:0023079 epidermal nevus vitamin D resistant rickets https://rarediseases.info.nih.gov/diseases/2136/epidermal-nevus-vitamin-d-resistant-rickets MONDO:0023083 epimetaphyseal dysplasia cataract https://rarediseases.info.nih.gov/diseases/2175/epimetaphyseal-dysplasia-cataract MONDO:0023084 epiphyseal dysplasia dysmorphism camptodactyly https://rarediseases.info.nih.gov/diseases/2177/epiphyseal-dysplasia-dysmorphism-camptodactyly MONDO:0023089 A clinical term that refers to the presence of a red flat and well defined lesion on the oral mucosa that is not caused by trauma, vascular, or inflammatory processes. It is a precancerous condition and is seen more commonly in middle aged or older males. It is associated with tobacco and alcohol consumption. Microscopic examination reveals severe epithelial dysplasia, carcinoma in situ, or invasive squamous cell carcinoma. erythroplakia erythroplakia https://rarediseases.info.nih.gov/diseases/6378/erythroplakia MONDO:0023091 esophageal atresia coloboma talipes https://rarediseases.info.nih.gov/diseases/2196/esophageal-atresia-coloboma-talipes MONDO:0023093 primary Exertional headache primary headache associated with sexual activity exertional headache https://rarediseases.info.nih.gov/diseases/10800/exertional-headache MONDO:0023094 Exogenous ochronosis refers tothe bluish-black discoloration of certain tissues, such as the ear cartilage, the ocular (eye) tissue, and other body locations when it is due toexposure to various substances.It has been reported most commonly with topical application of hydroquinones to the skin. The discolorationmay becaused byan effect ontyrosinase(an enzyme located in melanocytes, which are skincells that produce pigment), or by inhibiting homogentisic acid oxidase, resulting in the accumulation and deposition of homogentisic acid (HGA) in cartilage. The discoloration is often permanent, but when exogenous ochronosis is caused by topical hydroquinones, carbon dioxide lasers and dermabrasion have been reported to be helpful. Exogenous ochronosis is different from hereditary ochronosis, which is an inherited condition that occurs with alkaptonuria. exogenous ochronosis ochronosis, acquired ocular ochronosis pseudo-ochronosis exogenous ochronosis https://rarediseases.info.nih.gov/diseases/10757/exogenous-ochronosis MONDO:0023098 Char douglas Dungan syndrome extrasystoles short stature hyperpigmentation microcephaly https://rarediseases.info.nih.gov/diseases/2213/extrasystoles-short-stature-hyperpigmentation-microcephaly MONDO:0023099 FRAXD FRAXD syndrome https://rarediseases.info.nih.gov/diseases/2377/fraxd MONDO:0023100 facial clefting corpus callosum agenesis https://rarediseases.info.nih.gov/diseases/2220/facial-clefting-corpus-callosum-agenesis MONDO:0023101 facio digito genital syndrome recessive form https://rarediseases.info.nih.gov/diseases/2226/facio-digito-genital-syndrome-recessive-form MONDO:0023102 Ripperger Aase syndrome facio skeletal genital syndrome rippberger type https://rarediseases.info.nih.gov/diseases/2227/facio-skeletal-genital-syndrome-rippberger-type MONDO:0023106 Fairbank multiple epiphyseal dysplasia dysplasia epiphysealis multiplex epiphyseal dysplasia Fairbank type epiphyseal dysplasia, Fairbank type epiphyseal dysplasia, ribbing type Fairbank disease MONDO:0023111 familial capillaro-venous leptomeningeal angiomatosis https://rarediseases.info.nih.gov/diseases/9423/familial-capillaro-venous-leptomeningeal-angiomatosis MONDO:0023113 Familial colon cancer is a cluster of colon cancer within a family. Most cases of colon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes (mutations) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories. hereditary colorectal cancer colorectal cancer, familial familial colorectal cancer https://rarediseases.info.nih.gov/diseases/8533/familial-colorectal-cancer MONDO:0023119 familial myelofibrosis https://rarediseases.info.nih.gov/diseases/8516/familial-myelofibrosis MONDO:0023121 partial paralysis, familial familial partial paralysis https://rarediseases.info.nih.gov/diseases/8607/familial-partial-paralysis MONDO:0023122 Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 familial prostate cancer hereditary prostate cancer hereditary prostate carcinoma prostate cancer, autosomal dominant, somatic mutation prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation prostate cancer, somatic prostate cancer, susceptibility to, autosomal dominant, somatic mutation prostate cancer, familial prostate cancer, hereditary familial prostate carcinoma https://rarediseases.info.nih.gov/diseases/4520/familial-prostate-cancer MONDO:0023124 familial PAH, leucopenia and ASD familial pulmonary arterial hypertension, leucopenia and ASD familial pulmonary arterial hypertension leucopenia and atrial septal defect https://rarediseases.info.nih.gov/diseases/10455/familial-pulmonary-arterial-hypertension-leucopenia-and-atrial-septal-defect MONDO:0023129 familial oto-facio-cervical dysmorphia Fara Chlupackova syndrome https://rarediseases.info.nih.gov/diseases/2273/fara-chlupackova-syndrome MONDO:0023133 Faye-Petersen-Ward-Carey syndrome MONDO:0023134 Febrile ulceronecrotic Mucha-Habermann disease (FUMHD) is a rare and severe form of pityriasis lichenoides et varioliformis acuta (PLEVA). PLEVA is characterized by skin lesions that ulcerate, breakdown, form open sores, then form a red-brown crust. FUMHD often begins as PLEVA, but then rapidly and suddenly progresses to large, destructive ulcers. There may be fever and extensive, painful loss of skin tissue as well as secondary infection of the ulcers. Diagnosis of FUMHD is confirmed by biopsy of skin lesions. FUMHD occurs more frequently in children, peaking at age 5 to 10. Males tend to be affected more often than females. While some cases of FUMHD have resolved without therapy, others have resulted in death. Early diagnosis and prompt treatment may help to reduce morbidity and death. febrile ulceronecrotic Mucha-Habermann disease febrile ulceronecrotic pityriasis lichenoides acuta A severe variant of pityriasis lichenoides et varioliformis acuta (PLEVA) FUMHD ulceronecrotic Mucha-Habermann disease variant of Mucha-Habermann disease febrile ulceronecrotic Mucha-Habermann disease https://rarediseases.info.nih.gov/diseases/9516/febrile-ulceronecrotic-mucha-habermann-disease MONDO:0023137 feigenbaum Bergeron syndrome https://rarediseases.info.nih.gov/diseases/2280/feigenbaum-bergeron-syndrome MONDO:0023138 unusual facies, cleft palate, short stature, and intellectual disability unusual facies, cleft palate, short stature, and mental retardation Feingold trainer syndrome https://rarediseases.info.nih.gov/diseases/2282/feingold-trainer-syndrome MONDO:0023140 fenton Wilkinson Toselano syndrome https://rarediseases.info.nih.gov/diseases/2287/fenton-wilkinson-toselano-syndrome MONDO:0023142 fetal brain disruption sequence https://rarediseases.info.nih.gov/diseases/2297/fetal-brain-disruption-sequence MONDO:0023143 fetal enterovirus syndrome https://rarediseases.info.nih.gov/diseases/2302/fetal-enterovirus-syndrome MONDO:0023147 A syndrome caused by HPIV-3. Human respirovirus 3 caused infectious embryofetopathy Human respirovirus 3 infectious embryofetopathy fetal parainfluenza virus type 3 syndrome https://rarediseases.info.nih.gov/diseases/2309/fetal-parainfluenza-virus-type-3-syndrome MONDO:0023148 fetal phenothiazine syndrome https://rarediseases.info.nih.gov/diseases/2311/fetal-phenothiazine-syndrome MONDO:0023149 C. perfringens infection Clostridium perfringens Infection Clostridium perfringens Infections Clostridium perfringens infection Infection caused by Clostridium perfringens Infection due to Clostridium perfringens Infection, Clostridium perfringens Infections, Clostridium perfringens infection due to clostridium perfringens MONDO:0023152 Fibrocartilaginous embolism (FCE) is a rare type of embolism (sudden blocking of an artery) that occurs in the spinal cord. FCE occurs when materials that are usually found within the vertebral disc of the spine enter into the nearby vascular system (veins and arteries) and block one of the spinal cord vessels. The signs and symptoms of FCE often develop after a minor or even unnoticed btriggering eventb such as lifting, straining, or falling. Symptoms of FCE may include neck and/or back pain, progressive muscle weakness, and paralysis.The exact underlying cause of FCE is poorly understood. Most cases occur sporadically in people with no family history of the disease. Diagnosis is based on imaging of the spinal cord and ruling out other causes of a blockage of the vascular system within the spinal cord. Treatment is generally focused on preventing possible complications and improving quality of life with medications and physical therapy. embolism, fibrocartilaginous fibrocartilaginous embolism https://rarediseases.info.nih.gov/diseases/9718/fibrocartilaginous-embolism MONDO:0023153 A type of abdominal tuberculosis that is characterized by accumulation of fluid in the abdomen, a swollen abdomen, and slightly raised tubercles of 1–2 mm all over the peritoneum. tuberculous ascites tuberculous ascites MONDO:0023154 Jaffe Campanacci syndrome disseminated nonossifying fibromas in association with cafe-au-lait spots fibromatosis multiple non ossifying https://rarediseases.info.nih.gov/diseases/309/fibromatosis-multiple-non-ossifying MONDO:0023155 fibula aplasia complex brachydactyly https://rarediseases.info.nih.gov/diseases/2329/fibula-aplasia-complex-brachydactyly MONDO:0023157 fibular hypoplasia scapulo pelvic dysplasia absent https://rarediseases.info.nih.gov/diseases/2333/fibular-hypoplasia-scapulo-pelvic-dysplasia-absent MONDO:0023158 Fitz-Hugh-Curtis syndrome (FHCS) is a condition in which a woman has swelling of the tissue covering the liver as a result of having pelvic inflammatory disease (PID). Symptoms most often include pain in the upper right abdomen just below the ribs, fever, nausea, or vomiting. The symptoms of pelvic inflammatory disease - pain in the lower abdomen and vaginal discharge -are oftenpresent as well. FHCS is usually caused by an infection of chlamydia or gonorrhea that leads to PID; it is not known why PIDprogresses toFHCS in some women. Fitz-Hugh-Curtis syndrome is treatedwith antibiotics. gonococcal perihepatitis perihepatitis syndrome Editor note: check taxon Fitz-Hugh-Curtis syndrome https://rarediseases.info.nih.gov/diseases/6452/fitz-hugh-curtis-syndrome MONDO:0023161 Myocarditis that is caused by an infection with a viral agent. viral myocarditis Viral Myocarditis Viral myocarditis viral myocarditis MONDO:0023164 Pericarditis that is caused by an infection with a viral agent. viral pericarditis Viral Pericarditis Viral pericarditis viral pericarditis MONDO:0023165 cystic endosalpingiosis of the uterus florid cystic endosalpingiosis intramural florid cystic endosalpingiosis in lower uterine segment of the uterus intramural florid cystic endosalpingiosis of the uterus florid cystic endosalpingiosis of the uterus https://rarediseases.info.nih.gov/diseases/130/florid-cystic-endosalpingiosis-of-the-uterus MONDO:0023167 focal alopecia congenital megalencephaly https://rarediseases.info.nih.gov/diseases/2349/focal-alopecia-congenital-megalencephaly MONDO:0023170 focal or multifocal malformations in neuronal migration https://rarediseases.info.nih.gov/diseases/2350/focal-or-multifocal-malformations-in-neuronal-migration MONDO:0023171 Foix-Chavany-Marie syndrome (FCMS) is a cortico-subcortical suprabulbar or pseudobulbar palsy of the lower cranial nerves, characterized by severe dysarthria and dysphagia associated with bilateral central facio-pharyngo-glosso-masticatory paralysis, with prominent automatic-voluntary dissociation in which involuntary movements of the affected muscles are preserved. foix chavany Marie syndrome anterior opercular syndrome bilateral anterior opercular syndrome congenital Foix-Chavany-Marie syndrome congenital Foix-Chavany-Marie syndrome (subtype) facio-Labio-pharyngo-Glosso-laryngo-brachial paralysis facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation facio-pharyngo-glosso-masticatory diplegia opercular syndrome, anterior pseudobulbar paralysis, cortical type foix chavany Marie syndrome https://rarediseases.info.nih.gov/diseases/2351/foix-chavany-marie-syndrome MONDO:0023175 Fontaine farriaux blanckaert syndrome https://rarediseases.info.nih.gov/diseases/2358/fontaine-farriaux-blanckaert-syndrome MONDO:0023176 Formalin intoxication Formalin toxicity formaldehyde exposure formaldehyde toxicity formaldehyde poisoning https://rarediseases.info.nih.gov/diseases/2361/formaldehyde-poisoning MONDO:0023178 fragile X syndrome type 1 https://rarediseases.info.nih.gov/diseases/2366/fragile-x-syndrome-type-1 MONDO:0023179 fragile X syndrome type 2 https://rarediseases.info.nih.gov/diseases/2367/fragile-x-syndrome-type-2 MONDO:0023180 fragile X syndrome type 3 https://rarediseases.info.nih.gov/diseases/2368/fragile-x-syndrome-type-3 MONDO:0023182 Franceschini Vardeu Guala syndrome https://rarediseases.info.nih.gov/diseases/2371/franceschini-vardeu-guala-syndrome MONDO:0023186 chondrodysplasia, situs inversus totalis, cleft epiglottis and larynx, hexadactyly of hands and feet, pancreatic cystic dysplasia, renal dysplasia/abs Fraser Jequier Chen syndrome https://rarediseases.info.nih.gov/diseases/2373/fraser-jequier-chen-syndrome MONDO:0023188 Freiberg's disease is rare condition that primarily affects the second or third metatarsal (the long bones of the foot). Although people of all ages can be affected by this condition, Freiberg's disease is most commonly diagnosed during adolescence through the second decade of life. Common signs and symptoms include pain and stiffness in the front of the foot, which often leads to a limp. Affected people may also experience swelling, limited range of motion, and tenderness of the affected foot. Symptoms are generally triggered by weight-bearing activities, including walking. The exact underlying cause of Freiberg's disease is currently unknown. Treatment depends on many factors, including the severity of condition; the signs and symptoms present; and the age of the patient. Freiberg's disease Freiberg's infraction Freiberg-Kohler syndrome Kohler's second disease Osteochondrosis of the metatarsal head, usually the second second metatarsal osteochondrosis Freiberg disease https://rarediseases.info.nih.gov/diseases/2380/freibergs-disease MONDO:0023193 Friedman Goodman syndrome https://rarediseases.info.nih.gov/diseases/2387/friedman-goodman-syndrome MONDO:0023194 Symbrachydactyly of the hand and foot frints de Smet Fabry Fryns syndrome https://rarediseases.info.nih.gov/diseases/1680/frints-de-smet-fabry-fryns-syndrome MONDO:0023196 fronto nasal malformation cloacal exstrophy frontonasal malformation cloacal exstrophy https://rarediseases.info.nih.gov/diseases/2389/fronto-nasal-malformation-cloacal-exstrophy MONDO:0023197 frontonasal dysplasia Klippel feil syndrome https://rarediseases.info.nih.gov/diseases/2394/frontonasal-dysplasia-klippel-feil-syndrome MONDO:0023199 frontonasal dysplasia phocomelic upper limbs https://rarediseases.info.nih.gov/diseases/2395/frontonasal-dysplasia-phocomelic-upper-limbs MONDO:0023200 Fryns Fabry Remans syndrome https://rarediseases.info.nih.gov/diseases/2407/fryns-fabry-remans-syndrome MONDO:0023201 Fryns Smeets Thiry syndrome https://rarediseases.info.nih.gov/diseases/2409/fryns-smeets-thiry-syndrome MONDO:0023203 Fuchs atrophia gyrata chorioideae et retinae MONDO:0023204 Cerebromuscular dystrophy, Fukuyama type FCMD Fukuyama type muscular dystrophy muscular dystrophy, congenital progressive, with intellectual disability muscular dystrophy, congenital progressive, with mental retardation muscular dystrophy, congenital, Fukuyama type muscular dystrophy, congenital, with central nervous system involvement Fukuda-Miyanomae-Nakata syndrome https://rarediseases.info.nih.gov/diseases/2411/fukuda-miyanomae-nakata-syndrome https://rarediseases.info.nih.gov/diseases/6475/fukuyama-type-muscular-dystrophy MONDO:0023206 A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of a clinical syndrome that results from hormone hypersecretion. functional pancreatic NET functional pancreatic neuroendocrine tumor functioning PNET functioning pancreatic NET functioning pancreatic endocrine tumor functioning pancreatic neuroendocrine tumor functioning well differentiated pancreatic endocrine neoplasm functioning well differentiated pancreatic endocrine tumor functioning well-differentiated NEN of pancreas functioning well-differentiated neuroendocrine neoplasm of pancreas functioning well-differentiated pancreatic NEN functioning well-differentiated pancreatic neuroendocrine neoplasm syndromic pancreatic NET syndromic pancreatic neuroendocrine tumor functioning neuroendocrine tumor of pancreas functional pancreatic neuroendocrine tumor https://rarediseases.info.nih.gov/diseases/2414/functioning-pancreatic-endocrine-tumor MONDO:0023208 Fuqua Berkovitz syndrome https://rarediseases.info.nih.gov/diseases/2415/fuqua-berkovitz-syndrome MONDO:0023209 galactorrhoea-hyperprolactinaemia galactorrhea-hyperprolactinemia hyperprolactinaemia galactorrhoea-hyperprolactinaemia https://rarediseases.info.nih.gov/diseases/8400/galactorrhoea-hyperprolactinaemia MONDO:0023212 Garret Tripp syndrome Intellecutal disability with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip intellectual disability with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip mental retardation with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip polydactyly alopecia seborrheic dermatitis Garret-Tripp syndrome https://rarediseases.info.nih.gov/diseases/2435/garret-tripp-syndrome MONDO:0023214 post-fundoplication syndrome gas bloat syndrome https://rarediseases.info.nih.gov/diseases/6484/gas-bloat-syndrome MONDO:0023221 Gaucher ichthyosis restrictive dermopathy https://rarediseases.info.nih.gov/diseases/2444/gaucher-ichthyosis-restrictive-dermopathy MONDO:0023224 An instance of reflex epilepsy that is caused by an inherited modification of the individual's genome. hereditary reflex epilepsy inherited reflex epilepsy MONDO:0023226 gershinibaruch Leibo syndrome https://rarediseases.info.nih.gov/diseases/2464/gershinibaruch-leibo-syndrome MONDO:0023227 A form of diabetes insipidus that manifests during pregnancy (or in some cases, after pregnancy). It is characterized by theappearance of a polyuric-polydipsic syndrome that resultsin fluid intake ranging from 3 to 20 L/day. It is also charac-terized by excretion of abnormally high volumes of dilutedurine. This polyuria is insipid, i.e., the urine concentrationof dissolved substances is very low. Gestagenic diabetes insipidus diabetes insipidus gestational gestational diabetes insipidus https://rarediseases.info.nih.gov/diseases/10702/gestational-diabetes-insipidus MONDO:0023230 bilateral nanophthalmos, pigmentary retinal dystrophy, and angle closure glaucoma Ghose-Sachdev-Kumar syndrome https://rarediseases.info.nih.gov/diseases/2467/ghose-sachdev-kumar-syndrome MONDO:0023232 An often fatal inflammatory disorder that affects the myocardium. Morphologically, it is characterized by the presence of an inflammatory infiltrate in the myocardial tissue that includes multinucleated giant cells. It is often associated with the presence of an autoimmune disorder. Patients present with arrhythmias and/or heart failure. Heart transplantation is the only treatment option available. giant cell myocarditis GCM idiopathic giant-cell myocarditis giant cell myocarditis https://rarediseases.info.nih.gov/diseases/6502/giant-cell-myocarditis MONDO:0023238 giant hamartoma of the breast giant mammary hamartoma https://rarediseases.info.nih.gov/diseases/208/giant-mammary-hamartoma MONDO:0023240 gigantism advanced bone age hoarse cry https://rarediseases.info.nih.gov/diseases/2471/gigantism-advanced-bone-age-hoarse-cry MONDO:0023243 The Glass-Chapman-Hockley syndrome is a very rare disease. To date, the syndrome has only been reported in one family with five members affected in three generations. The first patients were two brothers that had an abnormally-shaped head due to coronal craniosynostosis. Their mother, maternal aunt, and maternal grandmother were also found to have the syndrome. The signs and symptoms varied from person to person; however, the signs and symptoms included coronal craniosynostosis, small middle part of the face (midfacial hypoplasia), and short fingers (brachydactyly).The inheritance is thought to be autosomal dominant. No genes have been identified for this syndrome. Treatment included surgery to correct the craniosynostosis. No issues with development and normal intelligence were reported. This is an n-of-1 use case where only one patient or family has been described with this disorder. craniosynostosis with facial dysmorphism and brachydactyly syndrome craniosynostosis - dysmorphism - brachydactyly craniosynostosis brachydactyly craniosynostosis-dysmorphism-brachydactyly syndrome glass chapman hockley syndrome glass-chapman-hockley syndrome https://rarediseases.info.nih.gov/diseases/2479/glass-chapman-hockley-syndrome MONDO:0023246 Linear porokeratosis is a rare skin condition characterized by streaks of reddish-brown patches surrounded by a ridge-like border.The patches usually develop in infants or young children, but they sometimes develop in adults. Congenital facial linear porokeratosis (type) Linear Porokeratosis Linear porokeratosis Porokeratosis, Linear Zosteriform porokeratosis linear porokeratosis MONDO:0023249 Juvenile polyarthritis rheumatoid factor negative Juvenile polyarthritis rheumatoid factor positive Polyarticular juvenile rheumatoid arthritis polyarticular juvenile rheumatoid arthritis MONDO:0023250 global disaccharide intolerance https://rarediseases.info.nih.gov/diseases/8386/global-disaccharide-intolerance MONDO:0023255 glossopalatine ankylosis micrognathia ear anomalies https://rarediseases.info.nih.gov/diseases/2495/glossopalatine-ankylosis-micrognathia-ear-anomalies MONDO:0023258 Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene. G6P translocase deficiency SLC37A4 glycogen storage disease I glucose-6-phosphate translocase deficiency glycogen storage disease I caused by mutation in SLC37A4 This class may be deprecated in future. There are two types of GSDI: glycogen storage disease type Ia (GSDIa) and glycogen storage disease type Ib (GSDIb). Two other forms of GSDI have been described, and they were originally named types Ic and Id. However, these types are now known to be variations of GSDIb; for this reason, GSDIb is sometimes called GSD type I non-a. https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-i glycogen storage disease type 1 due to SLC37A4 mutation https://rarediseases.info.nih.gov/diseases/2501/glucose-6-phosphate-translocase-deficiency MONDO:0023263 GAPDH deficiency glyceraldehyde-3-phosphate dehydrogenase deficiency https://rarediseases.info.nih.gov/diseases/2510/glyceraldehyde-3-phosphate-dehydrogenase-deficiency MONDO:0023267 long eyelashes, cataract, and hereditary spherocytosis trichomegaly, cataract, and hereditary spherocytosis goldstein hutt syndrome MONDO:0023272 goniodysgenesis intellectual disability short stature https://rarediseases.info.nih.gov/diseases/2545/goniodysgenesis-mental-retardation-short-stature MONDO:0023273 A morphologic variant of dermatofibrosarcoma protuberans characterized by the presence of melanin-pigmented dendritic cells. bednar tumor pigmented dermatofibrosarcoma protuberans pigmented dermatofibrosarcoma protuberans (bednar tumor) Bednar Tumor Bednar's Tumor Bednars Tumor DFSP, Pigmented DFSPs, Pigmented Dermatofibrosarcoma Protuberan, Pigmented Dermatofibrosarcoma Protuberans, Pigmented Pigmented DFSP Pigmented DFSPs Pigmented Dermatofibrosarcoma Protuberan Pigmented Dermatofibrosarcoma Protuberans Pigmented Dermatofibrosarcoma Protuberans (Bednar Tumor) Pigmented dermatofibrosarcoma Pigmented dermatofibrosarcoma protuberans Pigmented dermatofibrosarcoma protuberans of skin Pigmented storiform neurofibroma Protuberan, Pigmented Dermatofibrosarcoma Protuberans, Pigmented Dermatofibrosarcoma Tumor, Bednar Tumor, Bednar's pigmented dermatofibrosarcoma protuberans MONDO:0023275 Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987. Graham-Boyle-Troxell syndrome cystic hamartoma of lung and kidney graham Boyle Troxell syndrome cystic hamartomata of lung and kidney Graham-Boyle-Troxell syndrome https://rarediseases.info.nih.gov/diseases/2557/graham-boyle-troxell-syndrome MONDO:0023282 Granulomatous hypophysitis is rare pathology that mimics pituitary adenoma. idiopathic granulomatous hypophysitis granulomatous hypophysitis https://rarediseases.info.nih.gov/diseases/6547/granulomatous-hypophysitis MONDO:0023283 A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis. granulosa cell neoplasm of ovary granulosa cell neoplasm of the ovary granulosa cell tumor of ovary granulosa cell tumor of the ovary ovarian granulosa cell neoplasm ovarian granulosa cell tumor ovary granulosa cell tumor GCT of the ovary adult granulosa cell tumor of the ovary granulosa theca cell tumor granulosa theca cell tumor of the ovary ovarian granulosa cell tumor MONDO:0023286 graphite fibrosis of lung graphite pneumoconiosis carbon pneumoconiosis graphite fibrosis graphite lung disease graphitosis graphite pneumoconiosis https://rarediseases.info.nih.gov/diseases/8359/graphite-pneumoconiosis MONDO:0023288 anal anomalies, renal tract abnormalities, genital malformations, and syndactyly renal and anogenital malformations with syndactyly green sandford davison syndrome https://rarediseases.info.nih.gov/diseases/2447/green-sandford-davison-syndrome MONDO:0023290 craniofacial and osseous defects intellectual disability craniofacial and osseous defects mental retardation grix Blankenship Peterson syndrome https://rarediseases.info.nih.gov/diseases/2567/grix-blankenship-peterson-syndrome MONDO:0023297 Guttate psoriasis is a skin condition in which small, red, and scaly teardrop-shaped spots appear on the arms, legs, and middle of the body.It is a relatively uncommon form of psoriasis. The condition often develops very suddenly, and is usually triggered by an infection (e.g., strep throat, bacteria infection, upper respiratory infections or other viral infections). Other triggers include injury to the skin, including cuts, burns, and insect bites, certain malarial and heart medications, stress, sunburn, and excessive alcohol consumption. Treatment depends on the severity of the symptoms, ranging from at-home over the counter remedies to medicines that suppress the body's immunesystem to sunlight and phototherapy. guttate psoriasis psoriasis guttata psoriasis guttate guttate psoriasis https://rarediseases.info.nih.gov/diseases/10569/guttate-psoriasis MONDO:0023305 Heavy metal poisoning refers to when excessive exposure to a heavy metal affects the normal function of the body. Examples of heavy metals that can cause toxicity include lead, mercury, arsenic, cadmium, and chromium. Exposure may occur through the diet, from medications, from the environment, or in the course of work or play. Heavy metals can enter the body through the skin, or by inhalation or ingestion. Toxicity can result from sudden, severe exposure, or from chronic exposure over time. Symptoms can vary depending on the metal involved, the amount absorbed, and the age of the person exposed. For example, young children are more susceptible to the effects of lead exposure because they absorb more compared with adults and their brains are still developing. Nausea, vomiting, diarrhea, and abdominal pain are common symptoms of acute metal ingestion. Chronic exposure may cause various symptoms resulting from damage to body organs, and may increase the risk of cancer. Treatment depends on the circumstances of the exposure. heavy metal poisoning toxic effect of heavy metal chronic heavy metal poisoning heavy metal toxicity heavy metal toxicosis heavy metal poisoning https://rarediseases.info.nih.gov/diseases/6577/heavy-metal-poisoning MONDO:0023368 Cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, absent tibiae, bowed fibulae, preaxial polydactyly of the feet Ho Kaufman McAlister syndrome cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, absent tibiae, bowed fibulae, preaxial polydactyly of the feet Ho-Kaufman-McAlister syndrome https://rarediseases.info.nih.gov/diseases/1266/ho-kaufman-mcalister-syndrome MONDO:0023369 A disease that involves the facial skeleton. disease of facial skeleton disease or disorder of facial skeleton disorder of facial skeleton facial skeleton disease facial skeleton disease or disorder maxillo-facial disease maxillofacial anomaly disorder of facial skeleton MONDO:0023370 Either an isolated neoplasm or a syndrome with neoplasm as a major feature. neoplastic disease neoplastic disorder neoplastic disease or syndrome MONDO:0023388 Pityriasis rotunda is a rare skindisease characterized by round, scaly, pigmented patches that mainly occur on the trunk, arms and legs. There are two types of pityriasis rotunda. Pityriasis rotunda pityriasis rotunda MONDO:0023415 A fungal infection by any of the Candida species that is present at birth. https://github.com/monarch-initiative/mondo/issues/4069 congenital candidiasis Congenital Candidiasis Congenital candidiasis Congenital candidosis congenital candidiasis MONDO:0023419 Hyperprolinemia is when there isan excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms:hyperprolinemia type1 and hyperprolinemia type 2. People with hyperprolinemia type I often do not show any symptoms, although they have proline levels in their blood between 3 and 10 times the normal level. Less commonly, affected individuals can experience seizures, intellectual disability, or other neurological or psychiatric problems. Hyperprolinemia is caused by mutations in the PRODH gene and is inherited in an autosomal recessive pattern. hyperprolinemia type 1 proline hydrogenase deficiency proline oxidase deficiency hyperprolinemia https://rarediseases.info.nih.gov/diseases/2847/hyperprolinemia MONDO:0023472 impossible syndrome chondrodysplasia situs inversus imperforate anus polydactyly https://rarediseases.info.nih.gov/diseases/1299/chondrodysplasia-situs-inversus-imperforate-anus-polydactyly MONDO:0023483 An infectious process affecting the skeletal muscles. It can be caused by viruses (including HIV), bacteria, fungi, and parasites. Symptoms include muscle weakness and muscle pain. infectious myositis infective myositis infectious myositis https://rarediseases.info.nih.gov/diseases/9131/infective-myositis MONDO:0023510 Jaffer Beighton syndrome arachnodactyly, joint laxity, and spondylolisthesis Jaffer-Beighton syndrome https://rarediseases.info.nih.gov/diseases/3040/jaffer-beighton-syndrome MONDO:0023513 Editor note: TODO https://www.ncbi.nlm.nih.gov/pubmed/2325105 Jeune syndrome situs inversus https://rarediseases.info.nih.gov/diseases/303/jeune-syndrome-situs-inversus MONDO:0023521 dry skin, photophobia hyperkeratosis, abnormal fingernails keratodermia palmoplantar periorificial palmoplantar and perioroficial keratoderma with corneal epithelial dysplasia Judge Misch wright syndrome https://rarediseases.info.nih.gov/diseases/3061/judge-misch-wright-syndrome MONDO:0023528 A syndrome caused by Kaposi sarcoma-associated herpesvirus (KSHV) infection. It manifests with fever, weight loss, and fluid retention in the legs or abdomen. Patients are at risk of developing KSHV-related cancers including Kaposi sarcoma and lymphoma. KICS KSHV inflammatory cytokine syndrome Kaposi-sarcoma associated Herpesvirus (KSHV) inflammatory cytokine syndrome KSHV inflammatory cytokine syndrome https://rarediseases.info.nih.gov/diseases/10827/kshv-inflammatory-cytokine-syndrome MONDO:0023530 kallikrein attenuated hypertension kallikrein hypertension https://rarediseases.info.nih.gov/diseases/6811/kallikrein-hypertension MONDO:0023538 congenital hypopituitarism and microphthalmia hypopituitarism microphthalmia Kaplowitz-Bodurtha syndrome MONDO:0023540 Kashani Strom Utley syndrome hypoplastic pulmonary arteries and aorta with obstructive uropathy pulmonary aortic stenosis obstructive uropathy Kashani-Strom-Utley syndrome MONDO:0023541 Kasznica Carlson Coppedge syndrome ectrodactyly spina bifida cardiopathy ectrodactyly, retrognathism, abnormal ears, highly arched palate, spina bifida, congenital heart defect, single umbilical artery Kasznica-Carlson-Coppedge syndrome https://rarediseases.info.nih.gov/diseases/3080/kasznica-carlson-coppedge-syndrome MONDO:0023543 https://github.com/monarch-initiative/mondo/issues/5588 Katsantoni Papadakou Lagoyanni syndrome Trichodermal syndrome and intellectual disability Trichodermal syndrome and mental retardation Katsantoni-Papadakou-Lagoyanni syndrome https://rarediseases.info.nih.gov/diseases/3081/katsantoni-papadakou-lagoyanni-syndrome MONDO:0023551 C1q nephropathy is a kidney disease in which a large amount of protein is lost in the urine. It is one of the many diseases that can cause the nephrotic syndrome. C1q nephropathy C1q nephropathy MONDO:0023554 Testicular failure, the cause of which is not present at birth. acquired testicular failure Acquired Testicular Failure Acquired testicular failure acquired testicular failure MONDO:0023557 An infectious process affecting the vagina. Symptoms include pain and purulent discharge. vaginal infection Infective vaginitis PV - Vaginal infection Vaginal Infection Vaginal infection infective vaginitis MONDO:0023558 Kocher debre Semelaigne disease association of muscular pseudohypertrophy and hypothyroidism in children Kocher-debre-Semelaigne syndrome https://rarediseases.info.nih.gov/diseases/8270/kocher-debre-semelaigne-syndrome MONDO:0023561 https://github.com/monarch-initiative/mondo/issues/5588 Koone Rizzo Elias syndrome ichthyosis, intellectual disability and asymptomatic spasticity ichthyosis, mental retardation and asymptomatic spasticity Koone-Rizzo-Elias syndrome https://rarediseases.info.nih.gov/diseases/3131/koone-rizzo-elias-syndrome MONDO:0023563 albinism with immune and hematologic defects oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies Kotzot-Richter syndrome https://rarediseases.info.nih.gov/diseases/3134/kotzot-richter-syndrome MONDO:0023567 unusual facies, hooked clavicles, 13 pairs of ribs, widened metaphyses, square shaped vertebral bodies and communicating hydrocephalus Kozlowski Brown Hardwick syndrome https://rarediseases.info.nih.gov/diseases/3136/kozlowski-brown-hardwick-syndrome MONDO:0023569 agenesis of the corpus callosum with intellectual disability and osseous lesions agenesis of the corpus callosum with mental retardation and osseous lesions Kozlowski Ouvrier syndrome https://rarediseases.info.nih.gov/diseases/3139/kozlowski-ouvrier-syndrome MONDO:0023571 https://github.com/monarch-initiative/mondo/issues/5588 metaphyseal and epiphyseal dysplasia with unusual facies and cataract Kozlowski Rafinski Klicharska syndrome https://rarediseases.info.nih.gov/diseases/3140/kozlowski-rafinski-klicharska-syndrome MONDO:0023573 cloverleaf skull generalised bone dysplasia Kozlowski Warren Fisher syndrome https://rarediseases.info.nih.gov/diseases/353/kozlowski-warren-fisher-syndrome MONDO:0023575 telecanthus, hypertelorism, strabismus, and pes cavus syndrome Krauss Herman Holmes syndrome https://rarediseases.info.nih.gov/diseases/3143/krauss-herman-holmes-syndrome MONDO:0023577 autosomal dominant blepharophimosis with multiple congenital anomalies Krieble Bixler syndrome https://rarediseases.info.nih.gov/diseases/3144/krieble-bixler-syndrome MONDO:0023579 alopecia macular degeneration growth retardation alopecia, macular degeneration, and growth retardation Kuster Majewski Hammerstein syndrome https://rarediseases.info.nih.gov/diseases/3151/kuster-majewski-hammerstein-syndrome MONDO:0023581 cleft lip and palate, lower lip pits, and limb deficiency defects cleft lip palate lip pits limb deficiency Kuster syndrome https://rarediseases.info.nih.gov/diseases/3152/kuster-syndrome MONDO:0023595 Myotonic dystrophy that is present at birth. https://github.com/monarch-initiative/mondo/issues/4069 congenital myotonic dystrophy Congenital Myotonic dystrophies Congenital Myotonic dystrophy Congenital myotonic dystrophy MYOTONIC dystrophy CONGEN Myotonic dystrophies, Congenital Myotonic dystrophy, Congenital dystrophies, Congenital Myotonic dystrophy, Congenital Myotonic congenital myotonic dystrophy MONDO:0023597 Laryngeal papillomatosis is a form of recurrent respiratory papillomatosis where tumors (papillomas) grow in the larynx (voice box).Symptoms usually begin with hoarseness and/or a change in the voice.Some people mayexperience difficulty breathing (dyspnea) and/or experience other life-threatening complications if the papillomas block the airway. The tumors may vary in size and grow very quickly. They often grow back even when removed.Laryngeal papillomatosisis caused by two types of human papilloma virus (HPV), called HPV 6 and HPV 11. laryngeal papillomatosis Warts in the throat juvenile laryngeal papillomatosis juvenile laryngeal papillomatosis (subtype) recurrent laryngeal papillomatosis recurrent laryngeal papillomatosis (subtype) Editor note: compare with MONDO:0000935 laryngeal papillomatosis https://rarediseases.info.nih.gov/diseases/6864/laryngeal-papillomatosis MONDO:0023599 A form of skeletal dysplasia characterized by shortening of the bones of the middle segments of the limbs (i.e., the radii, ulnae, tibiae and fibulae). mesomelic dysplasia mesomelic dysplasias Mesomelic Dysplasia Mesomelic dwarf Mesomelic dysplasia mesomelic dysplasia MONDO:0023601 A milder form of congenital adrenal hyperplasia characterized by decreased activity of an enzyme in the steroidogenic pathway, typically presenting later in life, that does not require life-long cortisol replacement. https://github.com/monarch-initiative/mondo/issues/4069 late-onset congenital adrenal hyperplasia non-classic congenital adrenal hyperplasia LOCAH NCCAH attenuated congenital adrenal hyperplasia non classic congenital adrenal hyperplasia non-classic congenital adrenal hyperplasia MONDO:0023603 An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome. https://github.com/monarch-initiative/mondo/issues/3606 Mendelian connective tissue disorder connective tissue hereditary disorder hereditary connective tissue disorder Hereditary Connective Tissue Disorder Inherited disorder of connective tissue inherited disorder of connective tissue hereditary disorder of connective tissue MONDO:0023605 Laugier-Hunziker syndrome LHS Laugier and Hunziker pigmentation Laugier-Hunziker syndrome https://rarediseases.info.nih.gov/diseases/9669/laugier-hunziker-syndrome MONDO:0023607 Hirschsprung's disease associated with congenital heart malformation, broad big toes, and ulnar polydactyly Hirschsprung's disease associated with ulnar polydactyly, polysyndactyly of big toes and ventricular septal defect Laurence-Prosser-Rocker syndrome https://rarediseases.info.nih.gov/diseases/3201/laurence-prosser-rocker-syndrome MONDO:0023609 complex malformation syndrome with brachymesomelia le Marec-Bracq-Picaud syndrome https://rarediseases.info.nih.gov/diseases/171/le-marec-bracq-picaud-syndrome MONDO:0023619 Lentigo maligna melanoma (LMM) is a type of skin cancer that usually develops in older, fair-skinnedadults. The average age of diagnosis is65. LMM is thought to be caused by a history of sun exposure to the affected area. Treatment includes surgery to remove as much of the LMM as possible. lentigo maligna melanoma malignant lentigo melanoma Hutchison melanotic freckle LMM SKLMM lentigo maligna melanoma https://rarediseases.info.nih.gov/diseases/9962/lentigo-maligna-melanoma MONDO:0023628 Levator syndrome is characterized by sporadic pain in the rectum caused by spasm of a muscle near the anus (the levator ani muscle). The muscle spasm causes pain that typically is not related to defecation. The pain usually lasts less than 20 minutes. Pain may be brief and intense or a vague ache high in the rectum. It may occur spontaneously or with sitting and can waken a person from sleep. The pain may feel as if it would be relieved by the passage of gas or a bowel movement. In severe cases, the pain can persist for many hours and can recur frequently. A person may have undergone various unsuccessful rectal operations to relieve these symptoms. levator syndrome painful spasm of anus anorectal spasm levator ani spasm syndrome levator ani syndrome paroxysmal proctalgia proctalgia fugax psychogenic anal spasm levator syndrome https://rarediseases.info.nih.gov/diseases/6899/levator-syndrome MONDO:0023642 Weber-Gubler syndrome Midbrain stroke syndromes Weber Syndrome Weber syndrome MONDO:0023644 A carcinoma arising in the lip or oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma. Lip carcinomas are usually basal cell or squamous cell carcinomas. lip and oral cavity cancer lip and oral cavity carcinoma oral cancer oral carcinoma lip and oral cavity carcinoma https://rarediseases.info.nih.gov/diseases/9342/lip-and-oral-cavity-cancer MONDO:0023646 Lipodermatosclerosis refers to changes in the skin of the lower legs. It is a form of panniculitis (inflammation of the layer of fat under the skin). Signs and symptoms include pain, hardening of skin, change in skin color (redness), swelling, and a tapering of the legs above the ankles. The exact underlying cause is unknown; however, it appears to be associated with venous insufficiency and/or obesity. Treatment usually includes compression therapy. acute lipodermatosclerosis hypodermitis sclerodermaformis sclerosing panniculitis lipodermatosclerosis https://rarediseases.info.nih.gov/diseases/9671/lipodermatosclerosis MONDO:0023650 Littoral cell angioma is a rare primary vascular neoplasm of the spleen, composed of littoral cells that line the splenic sinuses of the red pulp. It was thought to be a benign, incidental lesion. However, many recent reports have described it to be a malignant lesion with congenital and immunological associations. The definitive diagnosis can only be made after histology and immunohistochemistry studies. littoral cell angioma littoral cell angioma of the spleen https://rarediseases.info.nih.gov/diseases/9714/littoral-cell-angioma-of-the-spleen MONDO:0023655 IMD14B immunodeficiency 14b, autosomal recessive MONDO:0023657 MRD65 mental retardation, autosomal dominant 65 intellectual developmental disorder, autosomal dominant 65 MONDO:0023659 DEE96 developmental and epileptic encephalopathy 96 MONDO:0023660 HAE6 angioedema, hereditary, 6 MONDO:0023662 LMPHM10 lymphatic malformation 10 MONDO:0023664 SPGF54 spermatogenic failure 54 MONDO:0023670 BBS20 Bardet-Biedl syndrome 20 MONDO:0023671 OPDM3 oculopharyngodistal myopathy 3 MONDO:0023679 Hematohidrosis is a rare condition characterized by blood oozing from intact skin and mucosa. Signs and symptoms include sweating blood, crying bloody tears, bleeding from the nose, bleeding from the ears, or oozing bloodfrom other skin surfaces. The episodes are usually self-limiting. Hematidrosis Hematohidrosis hematohidrosis MONDO:0023682 A benign or malignant middle ear paraganglioma arising from paraganglia around the tympanum. Signs and symptoms include a mass behind the tympanum, tinnitus, and conductive hearing loss. tympanic paraganglioma Glomus Tympanicum Tumor Glomus Tympanicum Tumors Glomus tympanicum paraganglioma Glomus tympanicum tumor Tumor, Glomus Tympanicum Tumors, Glomus Tympanicum Tympanic Paraganglioma Tympanic paraganglioma tympanic paraganglioma MONDO:0023691 A maple syrup urine disease caused by mutations in BCKDHA. maple syrup urine disease type 1A MSUD type 1A maple syrup urine disease type 1A https://rarediseases.info.nih.gov/diseases/8594/maple-syrup-urine-disease-type-1a MONDO:0023692 A maple syrup urine disease caused by mutations in BCKDHB. maple syrup urine disease type 1B MSUD due to deficiency of E1-beta subunit of branched-chain alpha-keto acid dehydrogenase complex MSUD type 3 (formerly) MSUD type IB maple syrup urine disease type 1B https://rarediseases.info.nih.gov/diseases/8597/maple-syrup-urine-disease-type-1b MONDO:0023693 A maple syrup urine disease caused by mutations in DBT. maple syrup urine disease type 2 MSUD type 2 MSUD2 maple syrup urine disease type 2 https://rarediseases.info.nih.gov/diseases/8596/maple-syrup-urine-disease-type-2 MONDO:0023696 A disease with similar features to Marinesco-Sjogren syndrome. Marinesco-Sjogren-like syndrome (MSLS) juvenile cataract, cerebellar atrophy, intellectual disability, and myopathy juvenile cataract, cerebellar atrophy, mental retardation, and myopathy Marinesco-Sjogren-like syndrome https://rarediseases.info.nih.gov/diseases/8745/marinesco-sjogren-like-syndrome-msls MONDO:0023699 apert syndrome with polydactyly of hands and feet apparent apert syndrome with polydactyly Maroteaux Fonfria syndrome https://rarediseases.info.nih.gov/diseases/3397/maroteaux-fonfria-syndrome MONDO:0023704 A form of blepharo-cheilo-dontic syndrome with with cleft lip and palate, complete absence of deciduous teeth, hypodontia of permanent teeth, hair alterations, hypertelorism, midface hypoplasia, abnormal EEG, syndactyly, and other findings. This is an n-of-1 use case where only one patient or family has been described with this disorder. cleft lip-palate-oligodontia-syndactyly-hair alterations cleft lip/palate oligodontia syndactyly hair alterations Martinez Monasterio Pinheiro syndrome https://rarediseases.info.nih.gov/diseases/3404/martinez-monasterio-pinheiro-syndrome MONDO:0023726 An extragonadal non-seminomatous malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of small pale cells with small amount of cytoplasm and round to oval nuclei with small nucleoli forming a variety of patterns, including microcystic, macrocystic, pseudopapillary, myxomatous, hepatoid, polyvesicular vitelline, and solid. It manifests with respiratory distress, thoracic pain, fever, and superior vena cava syndrome. endodermal sinus neoplasm of mediastinum endodermal sinus neoplasm of the mediastinum endodermal sinus tumor of mediastinum endodermal sinus tumor of the mediastinum mediastinal endodermal sinus neoplasm mediastinal endodermal sinus tumor mediastinal yolk Sac neoplasm mediastinal yolk Sac tumor mediastinum yolk sac tumor yolk Sac neoplasm of mediastinum yolk Sac neoplasm of the mediastinum yolk Sac tumor of mediastinum yolk Sac tumor of the mediastinum EST mediastinal endodermal sinus tumors mediastinal yolk sac tumor MONDO:0023757 Meralgia paresthetica is a condition characterized by tingling, numbness and burning pain in the outer thigh. These symptoms may become worse after walking or standing. The condition generally only affects one side of the body, although both sides may be involved in up to 20% of cases. Meralgia paresthetica is caused by compression of the lateral femoral cutaneous nerve (a sensory nerve to the skin on the outer thigh). This may be associated with a variety of causes such as tight clothing, obesity, and/or pregnancy. Treatment is based on the signs and symptoms present in each person and may include medications to manage pain. In most cases, conservative treatment by wearing looser clothing and/or losing weight generally resolves symptoms. Bernhardt-Roth syndrome bernhardt's paresthesia bernhardt-rot syndrome compression of lateral cutaneous femoral nerve of thigh entrapment of lateral cutaneous nerve of thigh lateral cutaneous femoral nerve of thigh syndrome lateral femoral cutaneous nerve entrapment meralgia paraesthetica familial (type) meralgia paresthetica https://rarediseases.info.nih.gov/diseases/9417/meralgia-paresthetica MONDO:0023809 Milner Khallouf Gibson syndrome microcephaly, short stature, slow growth, beak nose, micrognathia, skin dyspigmentation and forearm and thumb dysplasia Milner-Khallouf-Gibson syndrome https://rarediseases.info.nih.gov/diseases/3670/milner-khallouf-gibson-syndrome MONDO:0023820 Moebius syndrome with hypogonadotrophic hypogonadism and progressive peripheral neuropathy axonal and demyelinating type Moebius axonal neuropathy hypogonadism https://rarediseases.info.nih.gov/diseases/3698/moebius-axonal-neuropathy-hypogonadism MONDO:0023833 Multifocal choroiditis (MFC) is an inflammatory disorder characterized by swelling of the eye (called uveitis) and multiple lesions in the choroid, a layer of blood vessels between the white of the eye and the retina. Symptoms include blurry vision, floaters, sensitivity to light, blind spots and mild eye discomfort. Though the cause is unknown, multifocal choroiditis is seen most frequently in women ages 20 to 60, and usually affects both eyes. MFC is generally treated with steroid medication that can be taken orally or injected into the eye. Multifocal choroiditis is a chronic condition, thus symptoms may return or worsen even after successful treatment. multifocal choroiditis https://rarediseases.info.nih.gov/diseases/9824/multifocal-choroiditis MONDO:0023865 A viral or bacterial infectious process affecting the cornea. Symptoms include pain and redness in the eye, photophobia and eye watering. corneal infection infection of cornea infective keratitis keratitis caused by infection corneal infection MONDO:0023868 Melanoma-associated retinopathy (MAR) is a rare autoimmune condition that occurs in some people with melanoma (a type of skin cancer) and can affect the vision. Melanoma Associated Retinopathy Melanoma associated retinopathy Melanoma-Associated Retinopathies Melanoma-Associated Retinopathy Melanoma-associated retinopathy Retinopathies, Melanoma-Associated Retinopathy, Melanoma-Associated melanoma associated retinopathy MONDO:0023880 https://orcid.org/0000-0001-5208-3432 WHIM syndrome MONDO:0023910 https://orcid.org/0000-0001-5208-3432 Martsolf syndrome MONDO:0023961 https://orcid.org/0000-0001-5208-3432 visceral neuropathy, familial MONDO:0024171 Van Goethem syndrome radio-digito-facial dysplasia MONDO:0024182 endemic neuritis dry beriberi MONDO:0024183 wet beriberi MONDO:0024189 https://orcid.org/0000-0001-5208-3432 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset MONDO:0024193 https://orcid.org/0000-0001-5208-3432 portal hypertension, noncirrhotic MONDO:0024227 A miliaria that is characterized by pustules resulting from inflammation and bacterial infection. miliaria pustulosa MONDO:0024228 A miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash. miliaria profunda MONDO:0024229 A miliaria that is characterized by clear, superficial, noninflammed, subcorneal vesicles that easily rupture when rubbed and is located in the stratum corneum. miliaria crystallina MONDO:0024234 Bird-headed dwarfism microcephaly micrognathia Seckel like syndrome majoor-krakauer type https://rarediseases.info.nih.gov/diseases/4781/seckel-like-syndrome-majoor-krakauer-type MONDO:0024235 A usually benign tumor composed of solid and cystic nests of epithelial cells resembling transitional epithelium; it is surrounded by an abundant stromal component that is dense and fibroblastic in nature. https://github.com/monarch-initiative/mondo/issues/5537 Brenner tumor Brenner tumor MONDO:0024237 An inherited disorder characterized by progressive degeneration and atrophy of the nervous system. genetic neurodegenerative disease hereditary neurodegenerative disease hereditary neurodegenerative disorder inherited neurodegenerative disorder MONDO:0024238 A neurodegenerative disease that involves the telencephalon. cerebral degeneration neurodegenerative disease of telencephalon telencephalon neurodegenerative disease cerebral degeneration MONDO:0024239 A disease that has its basis in the disruption of cardiovascular system development. cardiovascular system development disease congenital Abnormality of the circulatory system congenital anomaly of cardiovascular system congenital cardiovascular Abnormality congenital cardiovascular anomaly disorder of cardiovascular system development congenital cardiovascular disorder congenital anomaly of cardiovascular system MONDO:0024240 An adenocarcinoma with eccrine differentiation arising from the sweat glands. It includes the following subtypes: ductal eccrine adenocarcinoma, papillary eccrine carcinoma, and eccrine porocarcinoma. carcinoma of eccrine sweat gland carcinoma, eccrine gland, malignant eccrine adenocarcinoma eccrine adenocarcinoma (morphologic abnormality) eccrine carcinoma eccrine carcinoma of skin eccrine sweat gland adenocarcinoma eccrine sweat gland carcinoma eccrine carcinoma MONDO:0024245 anaplastic syringoma ductal eccrine adenocarcinoma ductal eccrine carcinoma eccrine ductal carcinoma malignant acrospiroma sweat gland carcinoma of the hand eccrine ductal carcinoma (morphologic abnormality) eccrine ductal carcinoma of skin hidradenocarcinoma malignant hidradenoma primary mucoepidermoid cutaneous carcinoma ductal eccrine adenocarcinoma MONDO:0024246 A rare, benign eccrine neoplasm usually arising on acral areas as a solitary papular or nodular lesion. Multiple lesions are referred as syringofibroadenomatosis. It is characterized by the presence of epithelial cuboidal cells forming anastomosing cords in a fibrovascular stroma. acrosyringeal adenomatosis acrosyringeal nevus eccrine syringofibroadenoma eccrine syringofibroadenomatous hyperplasia syringofibroadenoma eccrine syringofibroadenoma of skin syringofibroadenoma MONDO:0024247 A non-metastasizing eccrine appendage sweat gland neoplasm. Representative examples include hidrocystoma, syringoma, and syringofibroadenoma. benign eccrine neoplasm benign eccrine neoplasm of skin benign eccrine neoplasm of the skin benign eccrine skin neoplasm benign eccrine skin tumor benign eccrine sweat gland neoplasm benign eccrine tumor benign eccrine tumor of skin benign eccrine tumor of the skin benign skin tumor with eccrine differentiation eccrine sweat gland neoplasm, benign benign eccrine neoplasm MONDO:0024249 A rare cutaneous disorder of unknown etiology that can present either as an acute condition, with multiple papular lesions which become vesicular and necrotic (pityriasis lichenoides et varioliformis acuta) or chronic, with small, scaling papules (pityriasis lichenoides chronica). Pityriasis Lichenoides pityriasis lichenoides acute Pityriasis Lichenoides chronic Pityriasis Lichenoides Pityriasis Lichenoides chronica Pityriasis Lichenoides et Varioliformis Acuta Pityriasis Lichenoides, acute Pityriasis Lichenoides, chronic parapsoriasis en gouttes parapsoriasis guttata pityriasis lichenoides MONDO:0024250 Habermann disease Habermann's disease Habermanns disease Mucha Habermann disease Mucha-Habermann disease PLEVA disease, Habermann disease, Habermann's disease, Mucha-Habermann mucha habermann disease mucha-habermann disease mucha-habermann syndrome parapsoriasis lichenoides et varioliformis acuta parapsoriasis varioliformis acuta acute lichenoid pityriasis MONDO:0024251 A neurological syndrome caused by severe mercury poisoning. Chisso-Minamata disease Minamata disease MONDO:0024252 https://github.com/monarch-initiative/mondo/issues/5588 global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome MONDO:0024257 An instance of motor neuron disease that is caused by an inherited modification of the individual's genome. genetic anterior horn cell disease genetic motor neuron disease hereditary motor neuron disease hereditary motor neuron disease MONDO:0024262 massive neonatal aspiration syndrome MONDO:0024263 Aspiration of meconium, blood, amniotic fluid or gastric contents around the time of delivery resulting in clinical symptoms from airway obstruction, parenchymal injury, and ventilation-perfusion mismatch. This may lead to persistent pulmonary hypertension in the newborn. Editor note: TODO axiomatize using ECTO neonatal aspiration syndrome MONDO:0024264 A congenital hypothyroidism that has material basis in heterozygous mutation in the PAX8 gene on chromosome 2q13. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 CHNG2 congenital hypothyroidism due to thyroid dysgenesis or hypoplasia hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia hypothyroidism, congenital, nongoitrous, 2 athyreotic hypothyroidism congenital nongoitrous hypothryoidism 2 congenital nongoitrous hypothyroidism 2 hypothyroidism, athyreotic hypothyroidism, congenital, due to thyroid dysgenesis resistance to thyrotropin thyroid agenesis thyroid dysgenesis thyroid hypoplasia thyroid, ectopic thyrotropin resistance hypothyroidism, congenital, nongoitrous, 2 MONDO:0024265 Duane syndrome type 1 is the most common type of Duane syndrome, an eye movement disorder that is present at birth. People with Duane syndrome have restricted ability to move the affected eye(s) outward toward the ear (abduction) and/or inward toward the nose (adduction). The different types are distinguished by the eye movements that are most restricted. Duane syndrome type 1 is characterized by absent to very restricted abduction and normal to mildly restricted adduction. The eye opening (palpebral fissure) narrows and the eyeball retracts into the orbit with adduction. With abduction, the reverse occurs. One or both eyes may be affected. The majority of cases are sporadic (not inherited), while about 10% are familial. 70% of affected people do not have any other abnormalities at birth (isolated Duane syndrome). Treatment is mainly supportive and may include glasses or contact lenses for vision correction, eye patches, or surgery. DURS1 Duane retraction syndrome 1 Drs Duane anomaly Duane syndrome retraction syndrome Duane syndrome type 1 https://rarediseases.info.nih.gov/diseases/10763/duane-syndrome-type-1 MONDO:0024266 Any patent ductus arteriosus in which the cause of the disease is a mutation in the PRDM6 gene. PDA3 PRDM6 patent ductus arteriosus patent ductus arteriosus 3 patent ductus arteriosus caused by mutation in PRDM6 patent ductus arteriosus 3 MONDO:0024268 A mycosis that is limited to the stratum corneum and essentially elicits no inflammation. steroid-modified tinea infection stratum corneum of epidermis fungal infectious disease piedra superficial mycosis MONDO:0024270 Infections of the INTESTINES with PARASITES, commonly involving PARASITIC WORMS. Infections with roundworms (NEMATODE INFECTIONS) and tapeworms (CESTODE INFECTIONS) are also known as HELMINTHIASIS. intestine parasitic infection parasitic intestinal disease disease, parasitic intestinal diseases, parasitic intestinal intestinal disease, parasitic parasitic intestinal diseases parasitic intestinal disorder MONDO:0024271 A parasitic helminthiasis infectious disease that involves the intestine. intestine parasitic helminthiasis infectious disease intestinal helminthiasis MONDO:0024275 Dysentery caused by intestinal amebic infection, chiefly with entamoeba histolytica. This condition may be associated with amebic infection of the liver and other distant sites. amebic dysentery amoebiasis due to Entamoeba histolytica amoebic dysentery due to Entamoeba histolytica Amebiases, intestinal Colitides, amebic Colitides, amoebic Entamoebiases, intestinal amebiasis, intestinal amebic colitides amebic colitis amebic dysenteries amoebiases, intestinal amoebiasis, intestinal amoebic Colitides amoebic colitis amoebic dysenteries amoebic dysentery colitis, amebic colitis, amoebic dysenteries, amebic dysenteries, amoebic dysentery, amoebic entamoebiasis, intestinal intestinal Amebiases intestinal Amoebiases intestinal Entamoebiases intestinal amebiasis intestinal amoebiasis intestinal entamoebiasis amebic dysentery MONDO:0024276 glandular cell epithelial neoplasm glandular cell epithelium neoplasm glandular cell neoplasm glandular cell tumor glandular cell neoplasm MONDO:0024277 neonatal thrombocytopenia neonatal purpura purpura of newborn neonatal thrombocytopenia MONDO:0024278 Inflammation of the rectum and colon. colorectum inflammation inflammation of colorectum proctocolitis proctocolitis MONDO:0024279 A non-granulomatous or granulomatous chronic inflammation of the endometrium. Causes include sexually transmitted pathogens and gynecological procedures. Patients may present with irregular bleeding. chronic endometritis endometritis, chronic chronic endometritis MONDO:0024280 An arthritis affecting five or more separate joints. polyarthritis polyarticular arthritis polyarticular arthritis MONDO:0024281 A group of conditions used to describe polyarthritis occurring in children. juvenile chronic polyarthritis juvenile chronic polyarthritis MONDO:0024282 An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract. It includes mucinous adenocarcinoma and mucinous adenocarcinofibroma. malignant ovarian mucinous neoplasm malignant ovarian mucinous tumor ovarian mucinous neoplasm, malignant mucinous ovarian cancer MONDO:0024283 A demodicidosis that involves the hair follicle. hair follicle demodicidosis Demodex folliculitis MONDO:0024284 A demodicidosis that involves the sebaceous gland. sebaceous gland demodicidosis demodicidosis of sebaceous gland MONDO:0024285 IgE heavy chain disease epsilon-heavy chain disease MONDO:0024286 A benign neoplasm arising from arteries or veins. benign blood vessel neoplasm benign blood vessel tumor benign blood vessel neoplasm MONDO:0024287 A congenital abnormality of the arteries and veins, lymph vessels or veins and lymph vessels. vascular malformation congenital vascular malformation congenital vascular malformation MONDO:0024288 A disease characterized by elevated level of the pigment bilirubin in the blood. hyperbilirubinemia bilirubinemia May be acquired or inherited hyperbilirubinemia MONDO:0024290 An elimination disorder characterized by urinary incontinence, whether involuntary or intentional, which is not due to a medical condition and which occurs at or beyond an age at which continence is expected (usually 5 years). enuresis enuresis MONDO:0024291 A non-neoplastic disorder that is the result of defects of vascular morphogenesis. vascular malformation malformation, vascular malformations, vascular The majority are present at birth. Some can be acquired. vascular malformation MONDO:0024292 A polypoid tumor that arises from any part of the gastrointestinal tract and protrudes into the lumen. Representative examples include adenomatous polyps, hyperplastic polyps, and hamartomatous polyps. GI polyp gastrointestinal polyp gastrointestinal tract polyp gastrointestinal polyp MONDO:0024294 Skin diseases caused by bacteria, fungi, parasites, or viruses. disease, infectious skin diseases, infectious skin infectious skin disease infectious skin diseases skin disease, infectious skin disorder caused by infection MONDO:0024295 Skin diseases caused by bacteria. Bacteria caused skin disease caused by infection Bacteria skin disease caused by infection bacterial skin disease bacterial skin diseases disease, bacterial skin diseases, bacterial skin skin disease, bacterial skin disease caused by bacterial infection MONDO:0024296 A benign, intermediate, or malignant neoplasm arising from vascular tissue including arteries, veins, venous sinuses, lymphatic vessels, arterioles and capillaries. It may occur in essentially any body location and is characterized by the presence of vascular channel formation and endothelial cells. neoplasm of vascular system neoplasm of vascular tissue neoplasms, vascular tumor of vascular system tumor of vascular tissue tumors, vascular vascular neoplasm vascular neoplasms vascular system neoplasm vascular system neoplasm (disease) vascular system tumor vascular tissue neoplasm vascular tissue tumor vascular tumor vascular tumors vascular neoplasm MONDO:0024298 A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency. avitaminosis vitamin deficiency vitamin deficiency disorder Avitaminoses deficiencies, vitamin deficiency, vitamin vitamin deficiencies vitamin deficiency disorder MONDO:0024299 VDDR vitamin D-dependent rickets MONDO:0024300 Rickets due to low serum phosphate concentrations, the cause of which can be nutritional or genetic. This condition is characterized by normal parathyroid hormone concentrations, usually caused by renal phosphate wasting occurring in isolation or as part of a renal tubular disorder, and characterized by resistance to treatment with ultraviolet radiation or vitamin D. Phosphopenic rickets hypophosphatemic rickets acquired vitamin D resistant rickets acquired vitamin D-resistant rickets Ricket, hypophosphatemic hypophosphatemia, vitamin D-resistant rickets hypophosphatemic Ricket hypophosphatemic vitamin D resistant rickets hypophosphatemic vitamin D-resistant rickets rickets, vitamin D resistant rickets, vitamin D-resistant vitamin D-resistant rickets hypophosphatemic rickets MONDO:0024301 An instance of mineral metabolism disease that is acquired during the lifetime of the individual. acquired mineral metabolism disease mineral metabolism disease acquired mineral metabolism disease MONDO:0024302 A condition resulting from accidental ingestion of leeches in drinking water. They may attach themselves to the wall of the pharynx, nasal cavity, or larynx. internal hirudiniasis MONDO:0024303 The attachment of leeches to the skin. After the leeches drop off, bleeding may continue as a result of the action of hirudin. Bites may become infected or ulcerate. external hirudiniasis MONDO:0024304 The most common form of ichthyosis. It is an autosomal dominant inherited or acquired disorder characterized by scaling and desquamation of the skin. https://github.com/monarch-initiative/mondo/issues/5537 ichthyosis vulgaris common ichthyosis fish scale disease ichthyosis vulgaris https://rarediseases.info.nih.gov/diseases/6752/ichthyosis-vulgaris MONDO:0024305 An instance of hyperprolactinemia (disease) that is acquired during the lifetime of the individual. Chiari-Frommel syndrome acquired hyperprolactinemia (disease) pregnancy-related A-G syndrome hyperprolactinemia acquired hyperprolactinemia MONDO:0024306 An instance of lactic acidosis that is acquired during the lifetime of the individual. acquired lactic acidosis lactic acidosis acquired lactic acidosis MONDO:0024307 prothrombin deficiency MONDO:0024308 An inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE pseudoxanthoma elasticum pseudoxanthoma elasticum (inherited or acquired) https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum MONDO:0024309 A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has material basis in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13 https://github.com/monarch-initiative/mondo/issues/4521 HSAN 2A HSAN2A HSN 2A hereditary sensory and autonomic neuropathy type IIA neuropathy, hereditary sensory and autonomic, type II neuropathy, hereditary sensory and autonomic, type IIA neuropathy, hereditary sensory, type 2A Morvan disease acroosteolysis, Giaccai type acroosteolysis, neurogenic hereditary sensory and autonomic neuropathy type 2A neuropathy, congenital sensory neuropathy, hereditary sensory radicular, autosomal recessive neuropathy, progressive sensory, of children Editor note: https://www.ncbi.nlm.nih.gov/medgen/148334 merges this with Morvan, but we dispute this. See https://github.com/monarch-initiative/mondo-build/issues/125 neuropathy, hereditary sensory and autonomic, type 2A MONDO:0024310 A angiodysplasia that involves the stomach. stomach angiodysplasia gastric angiodysplasia gastric vascular dysplasia angiodysplasia of stomach MONDO:0024311 A cancer that involves the limb bone. cancer of limb bone limb bone cancer malignant limb bone neoplasm malignant neoplasm of limb bone cancer affecting bone of limb skeleton MONDO:0024312 cancer of short bone of upper limb MONDO:0024313 An infection caused by Staphylococcus. staphylococcal infection staphylococcal infection MONDO:0024314 The presence of parasites (especially malarial parasites) in the blood. (Dorland, 27th ed) Parasitemias parasitemia MONDO:0024315 Infection of the epicondyles by a parasite. parasitic endophthalmitis parasitic endophthalmitis MONDO:0024316 A dysfunction in biological function that is due to a psychological process. physiological malfunction arising from mental Factor physiological malfunction arising from mental factor MONDO:0024317 Chronic form of disorder involving pain. chronic disorder involving pain chronic pain disease disorder involving pain, chronic chronic pain syndrome MONDO:0024318 viral infection of central nervous system central nervous system viral infection viral disease of central nervous system viral infection of central nervous system MONDO:0024320 A rare neoplasm that arises from the inner ear. Representative examples include lipoma and acoustic schwannoma. inner Ear neoplasm internal Ear neoplasm internal ear neoplasm internal ear neoplasm (disease) internal ear tumor neoplasm of internal ear tumor of internal ear inner ear neoplasm MONDO:0024321 A disease that has its basis in the disruption of GPI anchor biosynthetic process. GPI anchor biosynthetic process disease GPIBD disorder of GPI anchor biosynthetic process glycosylphosphatidylinositol biosynthesis defect May be inborn or somatic disorder of GPI anchor biosynthesis MONDO:0024322 A disease that has its basis in the disruption of glycosylation. disorder of glycosylation glycosylation disease May be inborn or somatic disorder of glycosylation MONDO:0024323 A morphologic variant of the glomus tumor with architectural features similar to solid glomus tumor. It is characterized by the presence of elongated glomus cells which resemble mature smooth muscle. glomangiomyoma glomangiomyoma MONDO:0024325 A glomangiomyoma that involves the zone of skin. glomangiomyoma of skin zone of skin glomangiomyoma cutaneous glomangiomyoma MONDO:0024326 A rare benign neoplasm that arises from the mesothelial cells of the pleura. It is characterized by a proliferation of epithelioid cells forming glandular and tubular patterns in a fibrous stroma. benign mesothelioma of pleura benign mesothelioma of the pleura pleura adenomatoid tumor pleural adenomatoid tumor pleural benign mesothelioma pleural mesothelioma, benign pleural adenomatoid tumor MONDO:0024327 Impairment of the renal function due to chronic kidney damage. CRF - chronic renal failure Chronic renal disease chronic kidney failure chronic renal failure chronic renal failure disease kidney failure, chronic chronic renal failure syndrome MONDO:0024330 Inflammation of the anatomical structures of the middle ear secondary to an infectious process. Bacterial etiology is most common, but both viral and fungal pathogens are also possible. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever. In severe infections, inflammation and edema of the structures of the middle ear can lead to perforation of the tympanic membrane secondary to the buildup of pressure in the narrow space. otitis media AOM acute otitis Media infectious otitis Media middle Ear infection infectious otitis media MONDO:0024331 A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. cancer of large bowel cancer of large intestine cancer of the large bowel cancer of the large intestine colorectal (colon or rectal) cancer colorectal cancer large bowel cancer large intestine cancer CRC carcinoma of colorectum carcinoma of large bowel carcinoma of large intestine carcinoma of the large bowel carcinoma of the large intestine colorectal carcinoma colorectum carcinoma large bowel carcinoma large intestine carcinoma colorectal carcinoma MONDO:0024332 Allergic rhinitis caused by indoor allergens and lasting year round. non-seasonal allergic rhinitis nonseasonal allergic rhinitis perennial allergic rhinitis perennial allergic rhinitis MONDO:0024333 A condition characterized by pain radiating from the back into the buttock and posterior/lateral aspects of the leg. Sciatica may be a manifestation of sciatic neuropathy; radiculopathy (involving the spinal nerve roots; L4, L5, S1, or S2, often associated with intervertebral disk displacement); or lesions of the cauda equina. bilateral sciatica bilateral sciaticas neuralgia, sciatic neuralgias, sciatic sciatic Neuralgias sciatic neuralgia sciatica, bilateral sciatica MONDO:0024334 peripheral nerve lesion MONDO:0024335 retrobulbar neuritis MONDO:0024336 An adenocarcinoma that arises from the vulva. Representative examples include Bartholin gland adenocarcinoma, eccrine adenocarcinoma, apocrine adenocarcinoma, and sebaceous carcinoma. adenocarcinoma of the vulva adenocarcinoma of vulva mammalian vulva adenocarcinoma vulva adenocarcinoma vulvar adenocarcinoma vulvar adenocarcinoma MONDO:0024337 A neoplasm involving a urothelium. neoplasm of urothelium transitional cell neoplasm of the urinary tract tumor of urothelium urothelial neoplasm urothelium neoplasm urothelium neoplasm (disease) urothelium tumor urothelial neoplasm MONDO:0024338 mucinous neoplasm mucinous tumor mucinous neoplasm MONDO:0024339 A neoplasm involving a lymph node. lymph node neoplasm lymph node neoplasm (disease) lymph node tumor neoplasm of lymph node tumor of lymph node lymph node neoplasm MONDO:0024340 A neuroblastoma arising from the retina. neuroblastoma of retina neuroblastoma of the retina retina neuroblastoma retinal neuroblastoma retinal neuroblastoma MONDO:0024341 A neoplasm arising from the neural retina. This category includes retinoblastoma and retinocytoma. retinal cell neoplasm retinal cell tumor retinal neural cell neoplasm retinal cell neoplasm MONDO:0024343 pityriasis simplex dandruff furfuracea pityriasis simplex MONDO:0024344 pityriasis folliculorum pityriasis folliculorum MONDO:0024345 pityriasis streptogenes pityriasis streptogenes MONDO:0024346 pityriasis amiantacea tinea amiantacea pityriasis amiantacea MONDO:0024349 pityriasis alba pityriasis alba MONDO:0024350 pityriasis steatoides pityriasis steatoides MONDO:0024352 A respiratory tract infection caused by a virus. Viruses represent the most common causes of upper and lower respiratory tract infections and include rhinoviruses, influenza viruses, parainfluenza viruses, and respiratory syncytial virus. viral respiratory tract infection viral respiratory tract infection MONDO:0024354 Pneumonia caused by cytomegalovirus. Most humans are exposed to cytomegalovirus. Healthy individuals do not develop signs and symptoms of infection. Patients with weakened immune system (e.g., AIDS patients, cancer patients who are being treated with chemotherapy, and patients who have received bone marrow or solid organ transplants) develop signs and symptoms of infection. They include cough, shortness of breath, fatigue, malaise, fever, muscle and joint pain, and excessive sweating. CMV pneumonia Cytomegaloviral pneumonia Cytomegalovirus caused pneumonia Cytomegalovirus pneumonia cytomegalovirus pneumonia cytomegalovirus pneumonia MONDO:0024355 Invasion of the host RESPIRATORY SYSTEM by microorganisms, usually leading to pathological processes or diseases. respiratory infection, upper upper respiratory infections upper respiratory tract infections infection, respiratory tract infections, respiratory infections, respiratory tract infections, upper respiratory infections, upper respiratory tract respiratory infections respiratory tract infection respiratory tract infectious disorder MONDO:0024356 primary central sleep apnea primary central sleep apnea syndrome MONDO:0024357 drug induced central sleep apnea drug induced central sleep apnea MONDO:0024358 A distinct form of sleep-disordered breathing characterized as central sleep apnea (CSA), and presents in obstructive sleep apnea (OSA) patients during initial treatment with a continuous positive airway pressure (CPAP) device. CompSAS complex sleep apnea mixed sleep apnea complex sleep apnea MONDO:0024359 central sleep apnea due to periodic breathing central sleep apnea due to periodic breathing MONDO:0024360 central sleep apnea caused by high altitude central sleep apnea due to high altitude central sleep apnea caused by high altitude MONDO:0024361 A persistent or recurrent pattern of sleep disruption that is primarily due to an alteration of the circadian system or to a misalignment between the endogenous circadian rhythm and the sleep-wake schedule required by an individual's physical environment or social or professional schedule.(DSM IV) circadian sleep disorder disorders of the sleep-wake schedule sleep-wake schedule disorder circadian rhythm sleep disorder MONDO:0024363 repeated rapid eye movement sleep interruptions rapid eye movement sleep disorder MONDO:0024376 disorders of initiating and maintaining sleep sleep disorder, initiating and maintaining sleep MONDO:0024377 A circadian sleep disorder in which the individual's internal body clock is delayed with respect to the external day/night cycle. DSPD DSPS delayed sleep phase syndrome sleep wake schedule disorder, delayed phase type sleep-wake schedule disorder, delayed phase sleepwake schedule disorder, delayed phase circadian rhythm sleep disorder, delayed sleep phase type MONDO:0024378 A circadian sleep disorder characterized by bedtime and wake-up time much earlier than normal, although sleep quality is normal. ASPS advanced sleep phase syndrome circadian rhythm sleep disorder, advanced sleep phase type sleep-wake schedule disorder, advanced phase type circadian rhythm sleep disorder, advanced sleep phase circadian rhythm sleep disorder, advanced sleep phase type MONDO:0024379 A circadian sleep disorder characterized by at least three sleep episodes per 24-hour period, irregularly from day to day. ISWD irregular sleep-wake disorder irregular sleep-wake pattern circadian rhythm sleep disorder, irregular sleep wake type MONDO:0024381 A circadian sleep disorder that results from travelling across time zones. jet lag circadian rhythm sleep disorder, jet lag type MONDO:0024382 A circadian sleep disorder that occurs when work schedules force people to be awake when their circadian rhythms dictate that they should be sleeping. It is classified as a Circadian Rhythm Disorder (CRD) and is extrinsic, i.e. caused by external behavioral factors. circadian rhythm sleep disorder of shift work type shift work disorder circadian rhythm sleep disorder, shift work type MONDO:0024386 A morphologic variant of large cell lung carcinoma characterized by a predominance of clear cells that may or may not contain glycogen. clear cell carcinoma of lung, large cell type clear cell carcinoma of the lung, large cell type clear cell lung carcinoma, large cell type large cell lung carcinoma, clear cell variant clear cell carcinoma of the lung large cell lung carcinoma, clear cell variant MONDO:0024387 A sex cord-stromal tumor arising from the ovary, without metastatic potential. Sex cord stromal tumor, benign benign Sex cord-stromal neoplasm of ovary benign Sex cord-stromal neoplasm of the ovary benign Sex cord-stromal tumor of ovary benign Sex cord-stromal tumor of the ovary benign ovarian Sex cord-stromal neoplasm benign ovarian Sex cord-stromal tumor ovarian SEX cord-stromal tumor, benign ovarian sex cord-stromal tumor, benign benign ovarian sex cord-stromal tumor MONDO:0024388 Infections with bacteria of the genus clostridium. Clostridium infection commensal Clostridium infection commensal infection, Clostridium commensal infections, Clostridium infection, Clostridium infections, Clostridium Clostridium infectious disease MONDO:0024389 anaerobic bacterial infection infection caused by anaerobic bacteria infection due to anaerobic bacteria Editor note: DP anaerobic bacteria infectious disease MONDO:0024392 anaerobic balanitis anaerobic balanitis MONDO:0024410 A disease caused by infection with Bifidobacterium. Bifidobacterium caused disease or disorder Bifidobacterium disease or disorder Bifidobacterium infectious disease infection caused by Bifidobacterium Bifidobacterium infection infection caused by Bifidobacterium MONDO:0024412 A disease caused by infection with Peptostreptococcus. Peptostreptococcus caused disease or disorder Peptostreptococcus disease or disorder Peptostreptococcus infection Peptostreptococcus infectious disease MONDO:0024414 anaerobic cellulitis anaerobic cellulitis MONDO:0024415 hemorrhagic duodenitis erosive duodenitis multiple duodenal erosions hemorrhagic duodenitis MONDO:0024416 A disease caused by infection with Neorickettsia. Neorickettsia caused disease or disorder Neorickettsia disease or disorder neorickettsiosis Neorickettsia infectious disease MONDO:0024417 Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body. perceptual disorders MONDO:0024418 Editor note: not in ORDO as of Apr 29 2018 muscular fibrosis multifocal obstructed vessels MONDO:0024419 Inflammation at the site of insertion of ligaments, tendons, and other fibrous structures into bone. enthesis inflammation enthesitis inflammation of enthesis inflammatory enthesopathy enthesitis MONDO:0024421 Hennekam Koss de Geest syndrome Editor note: disappeared from Orphanet? short stature contractures hypotonia MONDO:0024422 Acquired or developmental cognitive disorders of AUDITORY PERCEPTION characterized by a reduced ability to perceive information contained in auditory stimuli despite intact auditory pathways. Affected individuals have difficulty with speech perception, sound localization, and comprehending the meaning of inflections of speech. disorder of sensory perception of sound sensory perception of sound disease Inattentions, auditory Psychoacoustical disorder Psychoacoustical disorders acoustic perceptual disorder acoustic perceptual disorders auditory Inattentions auditory comprehension disorder auditory comprehension disorders auditory inattention auditory perceptual disorder auditory processing disorder auditory processing disorders comprehension disorder, auditory comprehension disorders, auditory disorder, Psychoacoustical disorder, acoustic perceptual disorder, auditory comprehension disorder, auditory processing disorders, Psychoacoustical disorders, acoustic perceptual disorders, auditory comprehension disorders, auditory processing inattention, auditory perceptual disorder, acoustic perceptual disorder, auditory perceptual disorders, acoustic perceptual disorders, auditory processing disorder, auditory processing disorders, auditory auditory perceptual disorders MONDO:0024429 A disorienting neuropsychological condition that affects perception. People experience size distortion such as micropsia, macropsia, pelopsia, or teleopsia. Size distortion may occur of other sensory modalities. Alice in Wonderland syndrome MONDO:0024430 A neurological disorder in which a sensory stimulus, usually tactile but more rarely other sensory modalities, is misperceived in a location distant from the original stimulus. Allachesthesia Allachesthesias Allesthesias Alloesthesia Alloesthesias Dyschirias allochiria dyschiria false allochiria allesthesia MONDO:0024431 disorder of bilirubin metabolism bilirubin metabolism disease MONDO:0024432 A disease that involves the nerve plexus. disease of nerve plexus disease or disorder of nerve plexus disorder of nerve plexus nerve plexus disease nerve plexus disease or disorder nerve plexus disorder plexopathy nerve plexus disorder MONDO:0024454 A disease that involves the sacral nerve plexus. disease of sacral nerve plexus disease or disorder of sacral nerve plexus disorder of sacral nerve plexus sacral nerve plexus disease or disorder sacral nerve plexus disorder sacral plexopathy sacral nerve plexus disorder MONDO:0024455 Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the WNT5A gene. https://github.com/monarch-initiative/mondo/issues/3711 https://github.com/monarch-initiative/mondo/issues/4948 DRS1 Robinow syndrome, autosomal dominant 1 WNT5A autosomal dominant Robinow syndrome autosomal dominant Robinow syndrome caused by mutation in WNT5A dysostosis acral with facial and genital abnormalities Robinow dwarfism acral dysostosis with Facial and genital abnormalities fetal face syndrome autosomal dominant Robinow syndrome 1 https://rarediseases.info.nih.gov/diseases/2013/dysostosis-acral-with-facial-and-genital-abnormalities MONDO:0024456 An iridogoniodysgenesis that results from alterations in the forkhead transcription factor gene (FOXC1) https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5789 ASGD3 FOXC1 iridogoniodysgenesis IGDA IGDA syndrome IRID1 anterior segment dysgenesis 3 anterior segment dysgenesis 3, multiple subtypes iridogoniodysgenesis anomaly, autosomal dominant iridogoniodysgenesis caused by mutation in FOXC1 iridogoniodysgenesis type 1 iridogoniodysgenesis, type 1 glaucoma iridogoniodysgenesia glaucoma iridogoniodysplasia, familial iris hypoplasia with glaucoma Editor note: check GARD re 2482 anterior segment dysgenesis 3 https://rarediseases.info.nih.gov/diseases/2482/glaucoma-iridogoniodysgenesia MONDO:0024457 Seitelberger disease NBIA2A PLAN inaD infantile neuroaxonal dystrophy infantile neuroaxonal dystrophy 1 neurodegeneration with brain iron accumulation 2A neurodegeneration with brain iron accumulation type 2A neurodegeneration with brain iron accumulation type 2a neurodegeneration, PLA2G6-associated neurodegeneration, Pla2G6-associated neurodegeneration, Pla2g6-associated phospholipase A2-associated neurodegeneration Hunter Carpenter Macdonald syndrome Hunter-Carpenter-McDonald syndrome INAD1 KARAK syndrome, included infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy neuroaxonal dystrophy presenting with neonatal dysmorphic features, early onset of peripheral gangrene neuroaxonal dystrophy, infantile AR PLA2G6 neurodegeneration with brain iron accumulation 2A https://rarediseases.info.nih.gov/diseases/2751/hunter-carpenter-macdonald-syndrome MONDO:0024458 A disease that involves the visual system. disease of visual system disease or disorder of visual system disorder of visual system visual system disease visual system disease or disorder visual system disorder disorder of visual system MONDO:0024459 intestinal infection caused by Aeromonas hydrophila intestinal infection due to Aeromonas hydrophila Aeromonas hydrophila intestinal disease MONDO:0024461 A benign diffuse vascular proliferation usually occurring in young adults. It is characterized by the formation of capillary-sized and cavernous vascular spaces. Patients present with diffuse persistent swelling. angiomatosis diffuse angiomatosis diffuse hemangioma multiple hemangiomas angiomatoses Editor note: check this angiomatosis MONDO:0024462 An instance of cutaneous melanoma (disease) that is caused by an inherited modification of the individual's genome. hereditary cutaneous melanoma (disease) familial cutaneous melanoma MONDO:0024463 ODG1 ovarian dysgenesis 1 XX gonadal dysgenesis XXGD gonadal dysgenesis, 20 type gonadal dysgenesis, XX type ovarian dysgenesis, hypergonadotropic, autosomal recessive ovarian dysgenesis, hypergonadotropic, with normal karyotype ovarian failure, hypergonadotropic ovarian dysgenesis 1 MONDO:0024464 Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the POU1F1 gene. https://github.com/monarch-initiative/mondo/issues/4521 CPHD1 POU1F1 combined pituitary hormone deficiencies, genetic form combined pituitary hormone deficiencies, genetic form caused by mutation in POU1F1 pituitary hormone deficiency, combined or isolated, 1 pituitary hormone deficiency, combined, 1 pituitary hormone deficiency, combined 1 pituitary hormone deficiency, combined, 1 MONDO:0024465 SMDP2 desquamative interstitial pneumonitis due to surfactant Protein C deficiency interstitial lung disease due to surfactant Protein C deficiency pulmonary alveolar proteinosis, congenital, 2 surfactant metabolism dysfunction, pulmonary, 2 surfactant metabolism dysfunction, pulmonary, 2 MONDO:0024466 HCFP1 facial paresis, hereditary congenital, 1 Mobius syndrome 2 Mobius syndrome 2, formerly Moebius syndrome 2 Moebius syndrome 2, formerly facial palsy, congenital, unilateral or bilateral facial paresis, hereditary congenital, 1 MONDO:0024467 A disease that involves the apocrine sweat gland. apocrine sweat gland disease apocrine sweat gland disease or disorder disease of apocrine sweat gland disease or disorder of apocrine sweat gland disorder of apocrine sweat gland apocrine sweat gland disorder MONDO:0024468 A disease that involves the adenohypophysis. adenohypophysis disease adenohypophysis disease or disorder disease of adenohypophysis disease or disorder of adenohypophysis disorder of adenohypophysis disorder of anterior pituitary disorder of anterior pituitary gland anterior pituitary gland disorder MONDO:0024469 A benign, intermediate, or malignant cartilaginous matrix-producing neoplasm. Representative examples include osteochondroma, chondroblastoma, and chondrosarcoma. cartilaginous neoplasm cartilaginous tumor chondrogenic neoplasm chondrogenic tumor chondromatous neoplasm chondromatous tumor neoplasm of cartilage neoplasm of the cartilage tumor of cartilage tumor of the cartilage chondrogenic neoplasm MONDO:0024470 A non-metastasizing cartilaginous matrix-producing neoplasm characterized by the presence of neoplastic chondrocytes. Representative examples include osteochondroma and chondroma. benign cartilaginous neoplasm benign cartilaginous tumor benign chondrogenic neoplasm benign chondrogenic tumor benign neoplasm of cartilage benign neoplasm of the cartilage benign tumor of cartilage benign tumor of the cartilage chondrogenic neoplasm, benign benign chondrogenic neoplasm MONDO:0024471 non-inflammatory vasculopathy MONDO:0024472 An infectious disease of the Mediterranean area, the Crimea, Africa, and India, caused by infection with rickettsia conorii subsp. coronorii. https://github.com/monarch-initiative/mondo/issues/4671 Rickettsia conorii spotted fever African tick typhus Conor and Bruch's disease Kenya fever Kenya tick typhus Kenyan tick typhus Mediterranean spotted fever Mediterranean tick fever South African tick-bite fever boutonneuse disease boutonneuse fever fievre boutonneuse marseilles fever tick typhus due to rickettsia conorii boutonneuse fever MONDO:0024473 An infectious disease of the Astrakhan region, Chad, Kosovo, caused by infection with rickettsia conorii subsp. caspia. Astrakhan spotted fever MONDO:0024474 A precancerous neoplastic process that affects the squamous, glandular, or transitional cell epithelium without evidence of invasion. According to the degree of nuclear atypia, number of mitotic figures, and presence of architectural distortion, it is classified as low grade (mild dysplasia) or high grade (moderate or severe dysplasia). epithelial dysplasia intraepithelial neoplasia intraepithelial neoplasm intraepithelial neoplasia MONDO:0024475 SIN sil squamous cell intraepithelial neoplasia squamous intraepithelial lesion squamous cell intraepithelial neoplasia MONDO:0024476 A epithelial neoplasm that involves the rectum. rectal epithelial neoplasm rectal epithelial tumor rectum epithelial neoplasm epithelial neoplasm of rectum MONDO:0024477 A benign or malignant neoplasm that affects the liver parenchyma or intrahepatic bile ducts. Representative examples of benign neoplasms include hepatocellular adenoma, and bile duct adenoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, and lymphoma. https://github.com/monarch-initiative/mondo/issues/5166 epithelial hepatic and intrahepatic bile duct neoplasm hepatic and intrahepatic bile duct neoplasm liver and intrahepatic bile duct epithelial neoplasm liver and intrahepatic bile duct neoplasm liver neoplasm liver neoplasm (disease) liver tumor neoplasm of liver tumor of liver liver and intrahepatic bile duct neoplasm MONDO:0024478 mesenchymal hamartoma mesenchymal hamartoma MONDO:0024479 A epithelial neoplasm that involves the colon. colon epithelial neoplasm epithelial tumor of colon MONDO:0024480 dermatosis of eyelid dermatosis of eyelid MONDO:0024481 A disease that involves the cutaneous appendage. cutaneous appendage disease cutaneous appendage disease or disorder disease of cutaneous appendage disease or disorder of cutaneous appendage disorder of cutaneous appendage disorder of skin appendage disease of epidermal appendage disease of epidermal appendages skin appendage disorder MONDO:0024482 A hamartoma characterized by localized eccrine sweat gland malformation. eccrine sweat gland hamartoma eccrine sweat gland hamartoma (disease) hamartoma of eccrine sweat gland hamartoma of the eccrine sweat gland eccrine sweat gland hamartoma MONDO:0024483 Hyperplasia of the transitional epithelium of the urinary tract. Morphologically it is subdivided into flat and papillary hyperplasia. -- 2003 urothelial hyperplasia urothelium hyperplasia urothelial hyperplasia MONDO:0024485 A type of hyperplasia that is characterized by variable thickening of the urinary tract epithelium and a slight papillary growth. The latter is not associated with the presence of fibrovascular cores. There is no evidence of atypia. The relationship between this lesion and papillary urothelial neoplasia is not clear. -- 2003 papillary urothelial hyperplasia papillary urothelial hyperplasia MONDO:0024487 An infectious process affecting the nail. nail infection nail infection MONDO:0024488 A modifier that can be applied to a tumor class describing abnormal tumor histology or morphology. It is an indicator of how quickly a tumor is likely to grow and spread tumor grading characteristic MONDO:0024489 A term that refers to the cellular differentiation of a malignant cellular infiltrate. A cancer is defined through grades I-IV (or 1-4), or as well, moderately, poorly differentiated or undifferentiated. disease grade qualifier general tumor grading characteristic MONDO:0024490 undetermined grade tumor grade X, general grading system MONDO:0024491 A morphologic qualifier indicating that a cancerous lesion is well differentiated. G1 grade 1 grade I low grade well differentiated tumor grade 1, general grading system MONDO:0024492 A morphologic qualifier indicating that a cancerous lesion is moderately differentiated. G2 grade 2 grade II intermediate grade moderately differentiated tumor grade 2, general grading system MONDO:0024493 A morphologic qualifier indicating that a cancerous lesion is poorly differentiated. high grade G3 grade 3 grade III poorly differentiated tumor grade 3, general grading system MONDO:0024494 A morphologic qualifier indicating that a cancerous lesion is undifferentiated. high grade G4 grade 4 grade IV undifferentiated tumor grade 4, general grading system MONDO:0024495 grade 1/2 tumor grade 1 or 2, general grading system MONDO:0024496 A morphologic qualifier indicating that a neoplastic lesion is moderately to poorly differentiated. grade 2/3 tumor grade 2 or 3, general grading system MONDO:0024497 Used to describe tumor samples that exhibit poorly differentiated or undifferentiated cells. They are generally expected to be fast growing and aggressive. grade 3/4 high grade tumor grade 3 or 4, general grading system MONDO:0024498 https://github.com/monarch-initiative/mondo/issues/4521 GLM1 glioblastoma, somatic glioma susceptibility 1 glioma susceptibility 1, autosomal dominant, somatic mutation glioma, susceptibility to, somatic astrocytoma ependymoma glioblastoma multiforme glioma of brain, familial oligodendroglioma subependymoma glioma susceptibility 1 MONDO:0024499 A benign, intermediate, or malignant vascular neoplasm that arises from the bone. bone vascular neoplasm bone vascular tumor osseous vascular neoplasm osseous vascular tumor vascular bone neoplasm vascular neoplasm of bone vascular neoplasm of the bone vascular tumor of bone vascular tumor of the bone vascular bone neoplasm MONDO:0024500 A neuroendocrine neoplasm that involves the duodenum. duodenum NET duodenum neuroendocrine neoplasm duodenum neuroendocrine tumor duodenum neuroendocrine tumor, well differentiated, low or intermediate grade neuroendocrine neoplasm of duodenum duodenal neuroendocrine neoplasm MONDO:0024501 A neoplasm with neuroendocrine differentiation that arises from the appendix. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). appendix neuroendocrine neoplasm neuroendocrine neoplasm of vermiform appendix vermiform appendix NET vermiform appendix neuroendocrine neoplasm vermiform appendix neuroendocrine tumor vermiform appendix neuroendocrine tumor, well differentiated, low or intermediate grade appendix neuroendocrine neoplasm MONDO:0024502 A neoplasm with neuroendocrine differentiation that arises from the gallbladder. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). gall bladder NET gall bladder neuroendocrine neoplasm gall bladder neuroendocrine tumor gall bladder neuroendocrine tumor, well differentiated, low or intermediate grade gallbladder neuroendocrine neoplasm neuroendocrine neoplasm of gall bladder gallbladder neuroendocrine neoplasm MONDO:0024503 A neoplasm with neuroendocrine differentiation arising from the digestive system. It includes neuroendocrine tumors (well-differentiated endocrine tumors or carcinoid tumors and well differentiated endocrine carcinomas) and neuroendocrine carcinomas (poorly differentiated neuroendocrine carcinomas, small cell carcinomas, and large cell neuroendocrine carcinomas). alimentary part of gastrointestinal system NET alimentary part of gastrointestinal system neuroendocrine neoplasm alimentary part of gastrointestinal system neuroendocrine tumor alimentary part of gastrointestinal system neuroendocrine tumor, well differentiated, low or intermediate grade carcinoid tumor of digestive system digestive system NET digestive system neuroendocrine neoplasm digestive system neuroendocrine tumor digestive system neuroendocrine tumor, well differentiated, low or intermediate grade gastro-enteropancreatic neuroendocrine tumor gastroenteropancreatic endocrine tumor gastroenteropancreatic neuroendocrine neoplasm gastrointestinal neuroendocrine neoplasm gastrointestinal system neuroendocrine neoplasm neuroendocrine neoplasm of alimentary part of gastrointestinal system neuroendocrine neoplasm of digestive system GEP tumors GEP-NEN GEP-NET carcinoid tumor digestive system neuroendocrine neoplasm https://rarediseases.info.nih.gov/diseases/2437/gastro-enteropancreatic-neuroendocrine-tumor MONDO:0024504 A usually slow-growing, grade 1 pancreatic neuroendocrine tumor that secretes serotonin. When it metastasizes to the liver, it produces the clinical symptoms of the carcinoid syndrome. EC cell, serotonin producing pancreatic NET EC cell, serotonin producing pancreatic neuroendocrine tumor carcinoid neoplasm of pancreas carcinoid neoplasm of the pancreas carcinoid tumor of pancreas carcinoid tumor of the pancreas enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor pancreatic carcinoid tumor pancreatic serotonin producing neoplasm pancreatic serotonin producing tumor serotonin-producing PNET serotonin-producing pancreatic NET serotonin-producing pancreatic neuroendocrine tumor serotonin-producing tumor of pancreas serotonin-producing tumor of the pancreas serotonin-producing neuroendocrine tumor of pancreas enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor MONDO:0024506 Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the ARHGAP31 gene. https://github.com/monarch-initiative/mondo/issues/4948 AOS1 ARHGAP31 Adams-Oliver syndrome Adams-Oliver syndrome 1 Adams-Oliver syndrome caused by mutation in ARHGAP31 AOS absence defect of limbs, scalp, and skull aplasia cutis congenita with terminal transverse limb defects aplasia cutis congenita, congenital heart defect, and frontonasal cysts congenital scalp defects with distal limb reduction anomalies Adams-Oliver syndrome 1 MONDO:0024507 https://github.com/monarch-initiative/mondo/issues/4521 aniridia AN1 aniridia 1 cataract with late-onset corneal dystrophy aniridia II aniridia II, formerly cataract, congenital, with late-onset corneal dystrophy aniridia 1 MONDO:0024508 HWE1 epilepsy, hot water, 1 bathing epilepsy water immersion epilepsy epilepsy, hot water, 1 MONDO:0024512 SPDA spondyloarthropathy, susceptibility to MONDO:0024516 An instance of hidradenitis suppurativa that is caused by an inherited modification of the individual's genome. ACNINV familial hidradenitis suppurativa hereditary hidradenitis suppurativa familial acne inversa MONDO:0024517 https://github.com/monarch-initiative/mondo/issues/4521 SWNTS1 schwannomatosis, somatic SCHWANNOMATOSIS 1 neurilemmomatosis, congenital cutaneous schwannomatosis-1, susceptibility to schwannomatosis 1 MONDO:0024518 A thrombocytosis caused by an underlying condition, such as an infection. secondary thrombocytosis reactive thrombocytosis MONDO:0024519 RHDA1 renal hypodysplasia/aplasia 1 Selig Benacerraf Greene syndrome hereditary renal aplasia renal adysplasia renal agenesis renal aplasia renal dysplasia, megalocystis, and sirenomelia renal hypodysplasia/aplasia 1 MONDO:0024520 RHDA3 renal hypodysplasia/aplasia 3 renal hypodysplasia/aplasia 3 MONDO:0024521 https://github.com/monarch-initiative/mondo/issues/4521 AAA1 aortic aneurysm, familial abdominal 1 aortic aneurysm, familial abdominal, 1 abdominal aortic aneurysm aneurysm, abdominal aortic aortic aneurysm, familial abdominal, 1 MONDO:0024522 Any primary cutaneous amyloidosis in which the cause of the disease is a mutation in the OSMR gene. OSMR primary cutaneous amyloidosis PLCA1 amyloidosis 9 amyloidosis, primary cutaneous, 1 amyloidosis, primary localized cutaneous, 1 amyloidosis, primary localized cutaneous, type 1 primary cutaneous amyloidosis caused by mutation in OSMR PCA amyloidosis, familial cutaneous lichen lichen amyloidosis, familial amyloidosis, primary localized cutaneous, 1 MONDO:0024523 Any aortic valve disease in which the cause of the disease is a mutation in the NOTCH1 gene. AOVD1 NOTCH1 aortic valve disease Notch1 aortic valve disease aortic valve disease 1 aortic valve disease caused by mutation in NOTCH1 aortic valve disease caused by mutation in Notch1 aortic stenosis, calcific aortic valve disease aortic valve, bicuspid aortic valve, calcification of bicuspid aortic valve aortic valve disease 1 MONDO:0024524 DUH1 dyschromatosis universalis hereditaria 1 dyschromatosis universalis hereditaria 1 MONDO:0024525 DeToni-Debré-Fanconi syndrome FRTS1 Fanconi renotubular syndrome 1 primary Fanconi renal syndrome primary Fanconi renotubular syndrome Fanconi renotubular syndrome Fanconi syndrome without cystinosis Luder-Sheldon syndrome adult Fanconi syndrome renal Fanconi syndrome Fanconi renotubular syndrome 1 MONDO:0024526 Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the KCNH1 gene. KCNH1 Zimmermann-Laband syndrome ZLS1 Zimmermann-Laband syndrome 1 Zimmermann-Laband syndrome caused by mutation in KCNH1 Laband syndrome fibromatosis, gingival, with abnormal fingers, fingernails, Nose, and ears, and splenomegaly Zimmermann-Laband syndrome 1 MONDO:0024527 GFND1 glomerulopathy with fibronectin deposits 1 glomerulopathy with giant fibrillar deposits lobular glomerulopathy, familial glomerulopathy with fibronectin deposits 1 MONDO:0024528 Any autosomal dominant progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene. PEOA1 POLG autosomal dominant progressive external ophthalmoplegia autosomal dominant progressive external ophthalmoplegia caused by mutation in POLG progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 progressive external ophthalmoplegia, autosomal dominant 1 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 MONDO:0024529 MVP1 PMV barlow syndrome click-murmur syndrome floppy mitral valve mitral regurgitation, familial mitral valve prolapse 1 mitral valve prolapse, familial mitral valve prolapse, familial, X-linked mitral valve prolapse, myxomatous 1 myxomatous mitral valve prolapse 1 myxomatous valvular disease, familial prolapsed mitral valve MVP1 MONDO:0024530 Bethlem myopathy 1 BTHLM1 Bethlem myopathy muscular dystrophy, benign congenital myopathy, benign congenital, with contractures Bethlem myopathy 1 MONDO:0024531 Any tubular aggregate myopathy in which the cause of the disease is a mutation in the STIM1 gene. STIM1 tubular aggregate myopathy myopathy, tubular aggregate, 1 tubular aggregate myopathy caused by mutation in STIM1 TAM1 myopathy, tubular aggregate tubular aggregate myopathy myopathy, tubular aggregate, 1 MONDO:0024532 Any otofaciocervical syndrome in which the cause of the disease is a mutation in the EYA1 gene. https://github.com/monarch-initiative/mondo/issues/4521 OFC OTFCS otofaciocervical syndrome EYA1 otofaciocervical syndrome otofaciocervical syndrome 1 otofaciocervical syndrome caused by mutation in EYA1 OFC1 otofaciocervical syndrome 1 MONDO:0024533 Any primary pulmonary hypertension in which the cause of the disease is a mutation in the BMPR2 gene. https://github.com/monarch-initiative/mondo/issues/4521 BMPR2 primary pulmonary hypertension primary pulmonary hypertension caused by mutation in BMPR2 pulmonary hypertension, familial primary, 1, with or without HHT pulmonary hypertension, primary, 1 pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated PHT PPH1 Pph1 with Hht pulmonary arterial hypertension pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia pulmonary hypertension, primary, Dexfenfluramine-associated pulmonary hypertension, primary, Fenfluramine-associated pulmonary hypertension, primary, 1 MONDO:0024534 Any Dowling-Degos disease in which the cause of the disease is a mutation in the KRT5 gene. Dowling-Degos disease 1 Dowling-Degos disease caused by mutation in KRT5 KRT5 Dowling-Degos disease DDD DDD1 reticular pigment anomaly of flexures Dowling-Degos disease 1 MONDO:0024535 Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the IFIH1 gene. https://github.com/monarch-initiative/mondo/issues/4948 IFIH1 singleton-Merten dysplasia singleton-Merten dysplasia caused by mutation in IFIH1 SGMRT1 singleton-Merten syndrome 1 Singleton-Merten syndrome 1 MONDO:0024536 Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MC2R gene. https://github.com/monarch-initiative/mondo/issues/4521 MC2R familial glucocorticoid deficiency familial glucocorticoid deficiency caused by mutation in MC2R glucocorticoid deficiency 1 glucocorticoid deficiency, due to ACTH unresponsiveness ACTH resistance GCCD1 adrenal unresponsiveness to ACTH familial glucocorticoid deficiency 1 glucocorticoid deficiency 1 MONDO:0024537 Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A3 gene. Brown-Vialetto-Van Laere syndrome 1 Brown-Vialetto-van Laere syndrome 1 Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A3 RTD2 Riboflavin transporter deficiency 2 SLC52A3 Brown-Vialetto-van Laere syndrome rfvt2-related riboflavin transporter deficiency BVVLS1 bulbar palsy, progressive, with sensorineural deafness pontobulbar palsy with deafness Brown-Vialetto-van Laere syndrome 1 MONDO:0024538 https://github.com/monarch-initiative/mondo/issues/4277 IBGC1 IBGC2 basal ganglia calcification, idiopathic, 1 basal ganglia calcification, idiopathic, 2 basal ganglia calcification, idiopathic, type 1 idiopathic basal ganglia calcification 1 Fahr disease, familial Fahr disease, familial, formerly basal ganglia calcification, idiopathic, 3 basal ganglia calcification, idiopathic, 3, formerly cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset ferrocalcinosis, cerebrovascular striopallidodentate calcinosis, autosomal dominant, adult-onset striopallidodentate calcinosis, bilateral basal ganglia calcification, idiopathic, 1 MONDO:0024539 Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene. https://github.com/monarch-initiative/mondo/issues/4521 GUCY2D central areolar choroidal dystrophy central areolar choroidal dystrophy caused by mutation in GUCY2D choroidal dystrophy, central areolar 1 choroidal dystrophy, central areolar, 1 CACD1 choroidal dystrophy, central areolar choroidal sclerosis choroidal dystrophy, central areolar, 1 MONDO:0024540 Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNQ1 gene. https://github.com/monarch-initiative/mondo/issues/4521 Jervell and Lange-Nielsen syndrome Jervell and Lange-Nielsen syndrome 1 Jervell and Lange-Nielsen syndrome caused by mutation in KCNQ1 KCNQ1 Jervell and Lange-Nielsen syndrome Cardioauditory syndrome of Jervell and Lange-Nielsen JLNS1 Surdo-Cardiac syndrome deafness, congenital, and functional heart disease prolonged QT interval in Ekg and sudden death Jervell and Lange-Nielsen syndrome 1 MONDO:0024541 Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the TTC37 gene. TRICHOHEPATOENTERIC syndrome 1 TTC37 tricho-hepato-enteric syndrome tricho-hepato-enteric syndrome caused by mutation in TTC37 trichohepatoenteric syndrome 1 THES1 The syndrome diarrhea, fatal infantile, with trichorrhexis nodosa diarrhea, syndromic trichohepatoenteric syndrome 1 MONDO:0024542 Any dysequilibrium syndrome in which the cause of the disease is a mutation in the VLDLR gene. https://github.com/monarch-initiative/mondo/issues/4521 VLDLR dysequilibrium syndrome cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 1 cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 1 cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 dysequilibrium syndrome caused by mutation in VLDLR CAMRQ1 cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 1 cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1 cerebellar ataxia, congenital, and intellectual disability, autosomal recessive cerebellar ataxia, congenital, and mental retardation, autosomal recessive cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 cerebellar hypoplasia, VLDLR-associated dysequilibrium syndrome cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 MONDO:0024543 Any brittle cornea syndrome in which the cause of the disease is a mutation in the ZNF469 gene. ZNF469 brittle cornea syndrome brittle cornea syndrome 1 brittle cornea syndrome caused by mutation in ZNF469 BCS1 Ehlers-Danlos syndrome, type Vib Ehlers-Danlos syndrome, type Vib, formerly Fragilitas oculi with Joint hyperextensibility corneal fragility, keratoglobus, blue sclerae, Joint hyperextensibility dysgenesis Mesodermalis corneae Et sclerae brittle cornea syndrome 1 MONDO:0024545 Any Miyoshi myopathy in which the cause of the disease is a mutation in the DYSF gene. DYSF Miyoshi myopathy Miyoshi myopathy caused by mutation in DYSF MIYOSHI muscular dystrophy 1 MMD1 Miyoshi myopathy muscular dystrophy, distal, late-onset, autosomal recessive Miyoshi muscular dystrophy 1 https://rarediseases.info.nih.gov/diseases/9676/miyoshi-myopathy MONDO:0024546 Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the HPGD gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 HPGD primary hypertrophic osteoarthropathy hypertrophic osteoarthropathy, primary, autosomal recessive 1 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 primary hypertrophic osteoarthropathy caused by mutation in HPGD Cranioosteoarthropathy Currarino idiopathic osteoarthropathy PDP, autosomal recessive PHOAR1 Pho, autosomal recessive Touraine-Solente-Gole syndrome familial idiopathic osteoarthropathy of childhood pachydermoperiostosis, autosomal recessive hypertrophic osteoarthropathy, primary, autosomal recessive, 1 MONDO:0024547 Any pancreatic agenesis in which the cause of the disease is a mutation in the PDX1 gene. PDX1 pancreatic agenesis pancreatic agenesis 1 pancreatic agenesis caused by mutation in PDX1 PAGEN1 Pagen pancreatic hypoplasia, congenital pancreatic agenesis 1 MONDO:0024548 Any peeling skin syndrome in which the cause of the disease is a mutation in the CDSN gene. CDSN peeling skin syndrome PSS type B generalized deciduous skin type B generalized peeling skin syndrome type B inflammatory peeling skin syndrome peeling skin syndrome 1 peeling skin syndrome caused by mutation in CDSN peeling skin syndrome type B PSS PSS1 deciduous skin keratolysis exfoliativa congenita skin peeling, familial continuous generalized peeling skin syndrome 1 MONDO:0024549 MCOPCB1 microphthalmia, colobomatous, isolated 1 microphthalmia, isolated, with coloboma 1 microphthalmia with coloboma 1 MONDO:0024550 Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the FLNA gene. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 FLNA frontometaphyseal dysplasia frontometaphyseal dysplasia 1, X-linked recessive frontometaphyseal dysplasia caused by mutation in FLNA FMD1 FRONTOMETAPHYSEAL dysplasia 1 Fmd frontometaphyseal dysplasia 1 MONDO:0024551 A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked SH2D1A gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells. https://github.com/monarch-initiative/mondo/issues/4521 X-linked lymphoproliferative disease due to SH2D1A deficiency lymphoproliferative syndrome, X-linked, 1, X-linked recessive Duncan disease EBV infection, Severe, susceptibility to Epstein-Barr Virus infection, familial fatal Lyp Purtilo syndrome XLP1 Xlp immunodeficiency 5 immunodeficiency, X-linked progressive combined variable infectious mononucleosis, Severe, susceptibility to lymphoproliferative disease, X-linked lymphoproliferative syndrome, X-linked, 1 X-linked lymphoproliferative disease due to SH2D1A deficiency MONDO:0024552 Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the HCCS gene. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 HCCS microphthalmia with linear skin defects syndrome linear skin defects with multiple congenital anomalies 1 linear skin defects with multiple congenital anomalies 1, X-linked dominant microphthalmia with linear skin defects syndrome caused by mutation in HCCS LSDMCA1 Midas syndrome microphthalmia with linear skin defects microphthalmia, dermal aplasia, and sclerocornea microphthalmia, syndromic 7 Editor note: this is in two OMIMPSs, see notes on parent linear skin defects with multiple congenital anomalies 1 MONDO:0024553 Any myopathy, lactic acidosis, and sideroblastic anemia in which the cause of the disease is a mutation in the PUS1 gene. PUS1 myopathy, lactic acidosis, and sideroblastic anemia myopathy, lactic acidosis, and sideroblastic anemia 1 myopathy, lactic acidosis, and sideroblastic anemia caused by mutation in PUS1 MLASA1 mitochondrial myopathy and sideroblastic anemia myopathy, lactic acidosis, and sideroblastic anemia 1 MONDO:0024554 Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the D2HGDH gene. https://github.com/monarch-initiative/mondo/issues/4521 D-2-hydroxyglutaric aciduria D-2-hydroxyglutaric aciduria 1 D-2-hydroxyglutaric aciduria caused by mutation in D2HGDH D2HGDH D-2-hydroxyglutaric aciduria D2HGA1 D-2-hydroxyglutaric aciduria 1 MONDO:0024555 https://github.com/monarch-initiative/mondo/issues/4521 megalencephalic leukoencephalopathy with subcortical cysts megalencephalic leukoencephalopathy with subcortical cysts 1 Lvm MLC1 VL Vacuolating megalencephalic leukoencephalopathy with subcortical cysts Van Der Knaap disease leukoencephalopathy with swelling and cysts megalencephalic leukoencephalopathy with subcortical cysts 1 MONDO:0024556 Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the DEPDC5 gene. DEPDC5 epilepsy, familial focal, with variable foci epilepsy, familial focal, with variable foci 1 epilepsy, familial focal, with variable foci caused by mutation in DEPDC5 FFEVF1 epilepsy, familial focal, with variable foci epilepsy, partial, with variable foci epilepsy, familial focal, with variable foci 1 MONDO:0024557 Any ataxia-telangiectasia-like disorder in which the cause of the disease is a mutation in the MRE11 gene. MRE11 ataxia - telangiectasia-like disorder MRE11 ataxia-telangiectasia-like disorder ataxia - telangiectasia-like disorder caused by mutation in MRE11 ataxia-telangiectasia-like disorder 1 ataxia-telangiectasia-like disorder caused by mutation in MRE11 ATLD1 Atld ataxia-telangiectasia-like disorder 1 MONDO:0024558 Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the HOXA11 gene. https://github.com/monarch-initiative/mondo/issues/4948 HOXA11 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in HOXA11 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 RUSAT1 Rusat thrombocytopenia, congenital, with radioulnar synostosis radioulnar synostosis with amegakaryocytic thrombocytopenia 1 MONDO:0024559 AAT1 Erdheim cystic medial necrosis of aorta FAA1 aneurysm, thoracic aortic annuloaortic ectasia aortic aneurysm, familial thoracic aortic dissection, familial aortic aneurysm, familial thoracic 1 MONDO:0024560 https://github.com/monarch-initiative/mondo/issues/4521 PDA1 patent ductus arteriosus, susceptibility to PDA patent ductus arteriosus 1 PDA1 MONDO:0024561 Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene. PRPH2 vitelliform macular dystrophy vitelliform macular dystrophy caused by mutation in PRPH2 VMD3 foveomacular dystrophy, adult-onset foveomacular dystrophy, adult-onset, with or without choroidal neovascularization macular dystrophy, vitelliform, 3 vitelliform macular dystrophy, adult-onset vitelliform macular dystrophy 3 MONDO:0024562 Any sick sinus syndrome in which the cause of the disease is a mutation in the SCN5A gene. SCN5A sick sinus syndrome sick sinus syndrome 1 sick sinus syndrome caused by mutation in SCN5A SSS1 sick sinus syndrome, congenital sinus bradycardia syndrome, familial sinus node disease, familial, autosomal recessive sinus rhythm, congenital absence of sick sinus syndrome 1 MONDO:0024563 A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the UNC93B1 gene. https://github.com/monarch-initiative/mondo/issues/4882 UNC93B1 herpes simplex encephalitis herpes simplex encephalitis caused by mutation in UNC93B1 herpes simplex encephalitis, susceptibility to, 1 IIAE1 encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 1 encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 1 encephalopathy, acute, infection-induced, susceptibility to, 1 herpes simplex encephalitis, susceptibility to, 1 MONDO:0024564 Any Coats plus syndrome in which the cause of the disease is a mutation in the CTC1 gene. https://github.com/monarch-initiative/mondo/issues/4521 cerebroretinal microangiopathy with calcifications and cysts CTC1 Coats plus syndrome Coats plus syndrome caused by mutation in CTC1 cerebroretinal microangiopathy with calcifications and cysts 1 CRMCC1 Coats plus syndrome Crmcc cerebroretinal microangiopathy with calcifications and cysts 1 MONDO:0024565 Any ectodermal dysplasia-syndactyly syndrome in which the cause of the disease is a mutation in the NECTIN4 gene. NECTIN4 ectodermal dysplasia-syndactyly syndrome ectodermal dysplasia-syndactyly syndrome 1 ectodermal dysplasia-syndactyly syndrome caused by mutation in NECTIN4 EDSS1 ectodermal dysplasia-syndactyly syndrome 1 MONDO:0024566 febrile seizures, familial, 11 FEB11 convulsions, familial febrile, 11 febrile seizures, familial, 11 MONDO:0024567 Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the NALCN gene. NALCN hypotonia, infantile, with psychomotor retardation and characteristic facies hypotonia, infantile, with psychomotor retardation and characteristic facies 1 hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in NALCN IHPRF1 Ihprf hypotonia, infantile, with psychomotor retardation and characteristic facies 1 MONDO:0024568 Any infantile liver failure in which the cause of the disease is a mutation in the LARS gene. LARS infantile liver failure Lars infantile liver failure infantile liver failure caused by mutation in LARS infantile liver failure caused by mutation in Lars infantile liver failure syndrome 1 infantile liver failure syndrome type 1 ILFS1 acute infantile liver failure - multisystemic involvement syndrome infantile liver failure syndrome 1 MONDO:0024569 OPA8 optic atrophy 8 optic atrophy 8 MONDO:0024570 Any familial isolated hyperparathyroidism in which the cause of the disease is a mutation in the GCM2 gene. https://github.com/monarch-initiative/mondo/issues/4948 GCM2 familial isolated hyperparathyroidism familial isolated hyperparathyroidism caused by mutation in GCM2 hyperparathyroidism 4 hyperparathyroidism type 4 HRPT4 hyperparathyroidism 4 MONDO:0024571 A non-neoplastic or neoplastic disorder arising as a result of the immunologic defects caused by Autoimmune deficiency Syndrome. AIDS-related complications AIDS-related disorder AIDS/HIV - relatedDisease associated with AIDS disease associated with AIDS AIDS-related disorder MONDO:0024572 A non-neoplastic or neoplastic disorder that develops in a patient with immunodeficiency. Representative examples include AIDS-related disorders and disorders that develop following organ transplantation. Immunodepression-related disorder Immunosuppression disorders Immunosuppression-related disorder immunodeficiency-related disorder immunodeficiency-related disorder MONDO:0024573 Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions. cardiomyopathy, familial hypertrophic familial hypertrophic cardiomyopathy familila or idiopathic hypertrophic obstructive cardiomyopathy hereditary hypertrophic cardiomyopathy hypertrophic familial cardiomyopathy familial hypertrophic cardiomyopathy MONDO:0024574 Hereditary or acquired coagulation disorder characterized by a qualitative or quantitative deficiency of the von Willebrand factor. The latter plays an important role in platelet adhesion. Signs and symptoms include bruises, nose bleeding, gum bleeding following a dental procedure, heavy menstrual bleeding, and gastrointestinal bleeding. VWD von Willebrand disorder von Willebrand's disease von Willebrand disease von Willebrand disease (hereditary or acquired) MONDO:0024575 A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor. complication of pregnancy or childbirth disorder of pregnancy disorder of pregnancy, childbirth, or puerperium pregnancy disease pregnancy disorder Complications, pregnancy complication, pregnancy pregnancy complication pregnancy disorder MONDO:0024582 A benign, borderline, or malignant neoplasm that affects the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign testicular Sertoli cell tumor, prostatic intraepithelial neoplasia, prostate carcinoma, testicular seminoma, and testicular embryonal carcinoma. Male reproductive system neoplasm Male reproductive system tumor male reproductive organ neoplasm male reproductive organ tumor neoplasm of Male reproductive system neoplasm of male reproductive organ neoplasm of the Male reproductive system tumor of Male reproductive system tumor of male reproductive organ tumor of the Male reproductive system male reproductive system neoplasm MONDO:0024607 A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13. https://github.com/monarch-initiative/mondo/issues/4069 MDCCAID muscular dystrophy, congenital, with cataracts and intellectual disability congenital muscular dystrophy with cataracts and intellectual disability MONDO:0024608 Gastrointestinal infection with organisms of the genus dientamoeba. Dientamoeba caused disease or disorder Dientamoeba disease or disorder Dientamoeba infectious disease intestinal trichomoniasis Dientamoebiases dientamoebiasis MONDO:0024609 An invasive squamous cell carcinoma arising from the vulva. Risk factors include the human papilloma virus and cigarette smoking. Precursor lesions include the vulvar intraepithelial neoplasia, lichen sclerosus with associated squamous cell hyperplasia, and chronic granulomatous vulvar disease such as granuloma inguinale. Symptoms include vulvar pruritus or irritation, discharge, bleeding, and pain. The following morphologic variants have been identified: keratinizing, non-keratinizing, basaloid, warty, verrucous, keratoacanthoma-like, and squamous cell carcinoma with tumor giant cells. Risk factors for recurrence include advanced stage, tumor diameter greater than 2.5 cm, multifocality, capillary-like space involvement, associated vulvar intraepithelial neoplasia grades 2 or 3, and margins of resection involved by tumor. (WHO, 2003) epidermoid carcinoma of the vulva epidermoid carcinoma of vulva epidermoid cell carcinoma of the vulva epidermoid cell carcinoma of vulva mammalian vulva squamous cell carcinoma squamous cell carcinoma of the vulva squamous cell carcinoma of vulva vulva epidermoid carcinoma vulva epidermoid cell carcinoma vulva squamous cell carcinoma vulvar epidermoid carcinoma vulvar epidermoid cell carcinoma vulvar squamous cell cancer vulvar squamous cell carcinoma vulvar squamous cell carcinoma MONDO:0024610 Skin diseases caused by ARTHROPODS; HELMINTHS; or other parasites. parasitic skin disease disease, parasitic skin diseases, parasitic skin parasitic skin diseases skin disease, parasitic parasitic skin disorder MONDO:0024611 A benign or malignant neoplasm that affects the orbit. neoplasm of orbit neoplasm of orbit of skull neoplasm of the orbit orbit neoplasm orbit of skull neoplasm orbit of skull tumor orbit tumor orbital neoplasm orbital neoplasms orbital tumor tumor of orbit tumor of orbit of skull tumor of the orbit orbit neoplasm MONDO:0024612 The manic phase of bipolar disorder. bipolar affective disorder, current episode manic manic bipolar affective disorder manic-depressive - now manic manic bipolar affective disorder MONDO:0024613 The depressive stage of bipolar disorder. bipolar affective disorder, current episode depression bipolar depression manic-depressive - now depressed bipolar depression MONDO:0024614 A term used for any state of depression that is not psychotic. neurotic depression neurotic depression MONDO:0024615 T-cell and NK-cell neoplasm T-cell neoplasm T-cell and NK-cell neoplasm MONDO:0024616 An inflammatory disease involving a pathogenic inflammatory response in the tympanic membrane. inflammation of tympanic membrane myringitis tympanic membrane inflammation tympanitis MONDO:0024617 xanthogranuloma xanthogranuloma MONDO:0024618 An disease or disorder caused by infection with Enterovirus C. Enterovirus C caused disease or disorder Enterovirus C disease or disorder Enterovirus C infectious disease human poliovirus infection infection caused by human poliovirus Editor note: TODO placeholder class for poliovirus in NCIT poliovirus infection MONDO:0024619 An infectious process that affects the brain and/or spinal cord. Representative examples include encephalitis, poliomyelitis, arachnoiditis, and meningitis. central nervous system infectious disease central nervous system infectious disorder infectious disease of central nervous system central nervous system infection infections, central nervous system central nervous system infectious disorder MONDO:0024620 meningitis caused by human poliovirus polio virus meningitis meningitis caused by poliovirus MONDO:0024621 A malignant serous cystic neoplasm usually involving the ovary or the pancreas. It is characterized by the presence of invasive malignant glandular epithelial cells which often form papillary structures. serous adenocarcinoma serous cystadenocarcinoma serous cystadenocarcinoma MONDO:0024622 An adenocarcinoma arising from the follicular cells of the thyroid gland. According to the degree of differentiation, it is classified either as differentiated carcinoma (extensive evidence of follicular cell differentiation), or poorly differentiated carcinoma (limited evidence of follicular cell differentiation). thyroid adenocarcinoma thyroid gland adenocarcinoma thyroid gland adenocarcinoma MONDO:0024623 Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases. ear, nose and throat disorder ear, nose or throat disorder ear/nose/throat disease otolaryngologic disorder otorhinolaryngologic disease ENT disease ENT diseases disease, ENT disease, otolaryngologic disease, otolaryngological disease, otorhinolaryngologic disease, otorhinolaryngological diseases, ENT diseases, otolaryngologic diseases, otolaryngological diseases, otorhinolaryngologic diseases, otorhinolaryngological otolaryngologic disease otolaryngologic diseases otolaryngological disease otolaryngological diseases otorhinolaryngological disease otorhinolaryngological diseases Editor note: consider uberon class otorhinolaryngologic disease MONDO:0024625 A disease that involves the lacrimal gland. disease of lacrimal gland disease or disorder of lacrimal gland disorder of lacrimal gland lacrimal gland disease lacrimal gland disease or disorder disorder of lacrimal gland MONDO:0024626 defective phagocytic cell killing defective phagocytic cell engulfment MONDO:0024627 defective phagocytosis phagocytic cell dysfunction phagocytic cell dysfunction MONDO:0024630 defective phagocytic cell chemotaxis defective phagocytic cell chemotaxis MONDO:0024632 defective phagocytic cell opsonization defective phagocytic cell opsonization MONDO:0024633 Kidney damage that results from chronically elevated blood pressure; complications include glomerular damage resulting in proteinuria and hematuria. https://github.com/monarch-initiative/mondo/issues/3600 HNP1 hypertensive nephropathy hypertensive renal disease hypertensive nephropathy MONDO:0024634 A disease that involves the large intestine. disease of large intestine disease or disorder of large intestine disorder of large intestine large intestine disease or disorder large intestine disorder MONDO:0024635 A disease that involves the small intestine. disease of small intestine disease or disorder of small intestine disorder of small intestine small intestine disease or disorder small intestine disorder MONDO:0024636 An inflammatory disease involving a pathogenic inflammatory response in the heart layer. carditis heart layer inflammation inflammation of heart layer MONDO:0024637 A malignant neoplasm arising exclusively from the soft tissues. malignant neoplasm of soft tissue malignant neoplasm of the soft tissue malignant soft tissue neoplasm malignant soft tissue tumor malignant tumor of soft tissue malignant tumor of the soft tissue malignant soft tissue neoplasm MONDO:0024638 A neuroendocrine tumor arising from the pancreas. It is characterized by inappropriate secretion of gastrin and associated with Zollinger Ellison syndrome. The latter is characterized by the presence of peptic ulcer, gastroesophageal reflux disease, abdominal pain, diarrhea, and malabsorption. pancreatic gastrinoma pancreatic gastrinoma MONDO:0024639 A well differentiated neuroendocrine tumor that arises from the stomach. It produces serotonin and it may occasionally be found in association with a carcinoid syndrome. gastric EC cell serotonin-producing NET gastric EC-cell serotonin-producing neuroendocrine tumor gastric enterochromaffin cell serotonin-producing neuroendocrine tumor gastric enterochromaffin cell serotonin-producing neuroendocrine tumor MONDO:0024642 A well differentiated, intermediate grade tumor with neuroendocrine differentiation that arises from the stomach. The mitotic count is 2-20 per 10 HPF and/or the Ki67 index is 3 to 20 percent. gastric NET G2 gastric neuroendocrine tumor G2 gastric neuroendocrine tumor G2 MONDO:0024643 A disorder that affects the muscle tissue of the heart. Representative examples include myocardial infarction, myocarditis, and cardiomyopathy. disease of myocardium disease or disorder of myocardium disorder of myocardium myocardial disease myocardial disorder myocardium disease myocardium disease or disorder disorder of heart muscle myocardial disorder MONDO:0024644 A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (coronary artery disease), to obstruction by a thrombus (coronary thrombosis), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (myocardial infarction). IHD ischemic disease of myocardium ischemic heart disease myocardium ischemic disease disease, ischemic heart diseases, ischemic heart heart disease, ischemic heart diseases, ischemic ischemia, myocardial ischemias, myocardial ischemic heart diseases myocardial Ischemias myocardial ischemia MONDO:0024645 A benign or malignant neoplasm that affects the retroperitoneum. neoplasm of retroperitoneal space retroperitoneal neoplasm retroperitoneal space neoplasm retroperitoneal space tumor tumor of retroperitoneal space retroperitoneal neoplasm MONDO:0024647 Stone(s) within the urinary tract. kidney stone calculus urinary stones urolithiasis urolithiasis MONDO:0024648 A meningioma that affects the visual pathway. meningioma (disease) of optic tract meningioma of optic tract meningioma of the optic tract meningioma of the visual pathway meningioma of visual pathway optic tract meningioma optic tract meningioma (disease) visual pathway meningioma optic tract meningioma MONDO:0024649 An astrocytoma that affects the optic tract. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group. astrocytoma (excluding glioblastoma) of optic tract optic tract astrocytoma optic tract astrocytoma (excluding glioblastoma) visual pathway astrocytoma optic tract astrocytoma MONDO:0024650 drug-induced osteoporosis drug-induced osteoporosis MONDO:0024651 osteoporosis due to corticosteroid osteoporosis caused by corticosteroid corticosteroid-induced osteoporosis MONDO:0024652 embryonic cyst of fallopian tube cyst of mesenteric remnant embryonic cyst of fallopian tube MONDO:0024653 A benign or malignant neoplasm that affects the bones and structures of the skull. neoplasm of skull neoplasm of the skull skull neoplasm skull tumor tumor of skull tumor of the skull skull neoplasm MONDO:0024654 A non-neoplastic or neoplastic disorder that affects structures of the skull. disease of skull disease or disorder of skull disorder of skull skull disease skull disease or disorder skull disorder skull disorder MONDO:0024655 rheumatic pericarditis rheumatic pericarditis MONDO:0024656 An extranodal lymphoma that arises from the colon or rectum. The majority are B-cell non-Hodgkin lymphomas. colorectal lymphoma large intestinal lymphoma large intestine lymphoma lymphoma of large intestine primary colorectal lymphoma colorectal lymphoma MONDO:0024658 A malignant soft tissue neoplasm that arises from the extrahepatic bile ducts. Representative examples include Kaposi sarcoma, leiomyosarcoma, and rhabdomyosarcoma. extrahepatic bile duct sarcoma sarcoma of extrahepatic bile duct sarcoma of the extrahepatic bile duct extrahepatic bile duct sarcoma MONDO:0024659 A Kaposi sarcoma that arises from the colon or rectum. Kaposi's sarcoma (disease) of large intestine colorectal Kaposi sarcoma large intestinal Kaposi sarcoma large intestine Kaposi's sarcoma (disease) colorectal Kaposi sarcoma MONDO:0024660 A usually polypoid neoplasm arising from the glandular epithelium. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features. Representative examples include the tubular adenomas of the colon and rectum. adenoma, tubular cell, benign tubular adenoma tubular adenoma MONDO:0024661 An epithelial neoplasm morphologically characterized by the presence of a villous and a tubular architectural pattern. Most often it occurs in the large intestine, small intestine, and the stomach in which the neoplastic epithelial cells show dysplastic features. tubulovillous adenoma tubulovillous adenoma MONDO:0024662 A neoplasm that arises from the glandular epithelium of the colonic and rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features. colorectal tubulovillous adenoma large bowel tubulovillous adenoma tubulovillous adenoma of large bowel tubulovillous adenoma of the large bowel colorectal tubulovillous adenoma MONDO:0024663 primary cutaneous meningioma primary meningioma of skin primary meningioma of the skin primary skin meningioma primary skin meningioma MONDO:0024664 A hypertensive disorder that develops during pregnancy. hypertension associated disorders of pregnancy hypertension-associated pregnancy disorder pregnancy-induced hypertension gestational hypertension hypertension complicating pregnancy hypertension induced by pregnancy hypertension, gestational hypertension, pregnancy induced hypertension, pregnancy transient hypertensions, pregnancy induced induced Hypertensions, pregnancy induced hypertension, pregnancy pregnancy induced hypertension pregnancy transient hypertension transient hypertension, pregnancy hypertension, pregnancy-induced MONDO:0024665 gynandrism indeterminate sex and/or pseudohermaphroditism MONDO:0024666 A form of epithelial skin neoplasm without malignant characteristics. benign epithelial skin neoplasm benign epithelial skin tumor benign skin epithelium neoplasm benign skin epithelium tumor epithelial skin neoplasm, benign benign epithelial skin neoplasm MONDO:0024673 A lymphangioma arising from the skin. cutaneous lymphangioma skin lymphangioma skin lymphangioma MONDO:0024674 A rare neoplastic syndrome characterized by obstruction of the thoracic outlet leading to compression of the brachial plexus and vessels within. It is usually caused by a malignant neoplasm in the superior pulmonary sulcus. The most commonly involved neoplasms are non-small cell lung carcinomas. Clinical signs include Horner's syndrome, shoulder pain radiating down the arm in the ulnar distribution followed by edema and atrophy of the affected extremity. Clinical course usually leads to early local invasion of the bony thoracic structures. Prognosis is highly stage-dependent. Pancoast syndrome Pancoast's syndrome Pancoast tumor Pancoasts syndrome superior pulmonary sulcus syndrome syndrome, Pancoast syndrome, Pancoast's tumor, Pancoast Pancoast syndrome MONDO:0024675 Wilms tumor of the kidney which occurs in adults. adenosarcoma of adult kidney adenosarcoma of the adult kidney adult kidney Wilms tumor adult kidney adenosarcoma adult nephroblastoma adult renal Wilms tumor adult renal Wilms' tumor adult renal adenosarcoma kidney Wilms tumor of adults adult kidney Wilms tumor MONDO:0024676 A Wilms tumor of the kidney which occurs in children. Wilms tumor kidney Wilms tumor childhood Wilms tumor childhood kidney Wilms tumor childhood renal Wilms tumor childhood renal Wilms' tumor childhood kidney Wilms tumor MONDO:0024677 An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin. insulinoma islet cell adenoma pancreatic insulinoma Insulinomas Insulomas adenoma, beta cell adenoma, beta-cell adenomas, beta-cell beta cell tumor beta-cell adenoma beta-cell adenomas beta-cell tumor beta-cell tumors insulinoma tumor suppressor GENE locus insuloma tumor, beta-cell tumors, beta-cell Editor note: NCIT definition core part identical to pancreatic insulin-producing neuroendocrine tumor. In mesh this is an adenoma pancreatic insulinoma MONDO:0024685 Ph1-positive granulocytic leukemia Ph1-positive myelocytic leukemia Ph1-positive myelogenous leukemia Ph1-positive myeloid leukemia Philadelphia-positive granulocytic leukemia Philadelphia-positive myelocytic leukemia Philadelphia-positive myelogenous leukemia Philadelphia-positive myeloid leukemia Philadelphia-positive myelogenous leukemia MONDO:0024686 A locally aggressive, diffusely infiltrating tumor, arising in the tendon sheath. It is composed of synovial-like mononuclear cells, hemosiderin-laden macrophages, foam cells, and inflammatory cells. Multinucleated osteoclast-like giant cells are usually present, although in a minority of cases they may be absent or rare. It predominantly affects young adults. Symptoms include joint swelling, pain, and joint effusion. https://github.com/monarch-initiative/mondo/issues/4610 TGCT TSGCT diffuse giant cell neoplasm of Tenosynovium diffuse giant cell neoplasm of tendon sheath diffuse giant cell neoplasm of the Tenosynovium diffuse giant cell tumor of Tenosynovium diffuse giant cell tumor of tendon sheath diffuse giant cell tumor of the Tenosynovium diffuse tenosynovial giant cell neoplasm diffuse tenosynovial giant cell tumor pigmented villonodular synovitis tenosynovial giant cell tumor, diffuse type villous tenosynovitis diffuse pigmented villonodular synovitis diffuse-type GCT diffuse-type giant cell tumor localized pigmented villonodular synovitis tenosynovial giant cell tumor tenosynovial giant cell tumor diffuse type tenosynovial giant cell tumors villonodular synovitis tenosynovial giant cell tumor, diffuse type https://rarediseases.info.nih.gov/diseases/7396/pigmented-villonodular-synovitis MONDO:0024711 A mixed epithelial stromal tumor of the kidney with malignant stromal features. malignant MEST malignant mixed epithelial stromal tumor of the kidney mixed epithelial stromal tumor of the kidney, malignant malignant mixed epithelial stromal tumor of the kidney MONDO:0024715 A benign neoplasm arising from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath and localized giant cell tumor of tendon sheath. benign neoplasm of synovium benign neoplasm of the synovium benign synovial neoplasm benign synovial tumor benign synovioma benign synovium neoplasm benign tumor of synovium benign tumor of the synovium synovioma, benign synovium neoplasm, benign benign synovial neoplasm MONDO:0024744 A neoplasm that arises from the choroid plexus in the brain and occurs during childhood. choroid plexus neoplasm childhood choroid plexus neoplasm choroid plexus neoplasm of childhood pediatric choroid plexus neoplasm childhood choroid plexus neoplasm MONDO:0024746 A teratoma composed of immature, fetal-type tissues. embryonal teratoma hrade 2 Teratoma immature teratoma immature teratoma MONDO:0024757 A benign or malignant neoplasm that affects the heart and/or vessels. Representative examples of benign neoplasms include atrial myxoma, hemangioma, and lymphangioma. Representative examples of malignant neoplasms include pericardial malignant mesothelioma and angiosarcoma. cardiovascular neoplasm cardiovascular system neoplasm cardiovascular system tumor cardiovascular tumor neoplasm of cardiovascular system tumor of cardiovascular system cardiovascular neoplasm MONDO:0024770 AIFBL2 autoinflammatory syndrome, familial, X-linked, Behcet-like 2 deficiency 1n ELF4, X-linked autoinflammatory syndrome, familial, X-linked, Behcet-like 2 MONDO:0024771 MPD7 myopathy, distal, 7, adult-onset, X-linked myopathy, distal, 7, adult-onset, X-linked MONDO:0024772 https://github.com/monarch-initiative/mondo/issues/5588 MRXSP intellectual developmental disorder, X-linked, syndromic, Pilorge type intellectual developmental disorder, X-linked, syndromic, Pilorge type MONDO:0024773 SPGFX4 spermatogenic failure, X-linked, 4 spermatogenic failure, X-linked, 4 MONDO:0024777 An immunodeficiency disease characterized by onset of recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life. Mostly males are affected; carrier females may have mild symptoms. Laboratory studies show evidence of immune dysregulation, including hypogammaglobulinemia with reduced memory B cells, skewed T-cell subsets, increased levels of proinflammatory cytokines, activated T cells and monocytes, and autoimmune cytopenias, including neutropenia. https://github.com/monarch-initiative/mondo/issues/5261 IMD98 X-linked immunodeficiency with autoinflammation immunodeficiency 98 with autoinflammation, X-linked inflammation, neutropenia, bone marrow failure, and lymphoproliferation caused by TLR8 immunodeficiency 98 with autoinflammation, X-linked MONDO:0024781 An X-linked recessive immunologic disorder characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias. Affected individuals have bacterial, viral, and fungal infections, as well as hemolytic anemia, thrombocytopenia, lymphopenia, and decreased NK cells. Laboratory studies show defective T-cell proliferation and function, likely due to signaling abnormalities. The disorder may also manifest as a hyperinflammatory state with immune dysregulation. https://github.com/monarch-initiative/mondo/issues/5261 IMD102 SASH3 deficiency immunodeficiency 102 immunodeficiency 102 MONDO:0024797 A brainstem neoplasm that occurs in an adult. adult brain stem neoplasm adult brain stem tumor adult brainstem neoplasm adult brainstem tumor brainstem neoplasm of adults neoplasm of adult brain stem neoplasm of adult brainstem neoplasm of the adult brain stem neoplasm of the adult brainstem tumor of adult brain stem tumor of adult brainstem tumor of the adult brain stem tumor of the adult brainstem adult brain stem neoplasm MONDO:0024813 A neoplasm originating from the apical lung. Most superior sulcus neoplasms are bronchogenic carcinomas. This tumor may be associated with Pancoast syndrome. It is also known as Pancoast tumor. pulmonary sulcus neoplasm pulmonary sulcus tumor pulmonary sulcus neoplasm MONDO:0024857 An immature teratoma that develops as a primary tumor in an anatomic site other than the testis or ovary. extragonadal primary malignant teratoma immature extragonadal teratoma malignant extragonadal teratoma primary malignant extragonadal teratoma immature extragonadal teratoma MONDO:0024861 mixed teratoma and seminoma mixed teratoma and seminoma MONDO:0024863 small size posterior uveal melanoma small size posterior uveal melanoma MONDO:0024864 medium/large size posterior uveal melanoma medium/large size posterior uveal melanoma MONDO:0024868 A carcinoma that has spread to the adrenal medulla from an adjacent or distant anatomic site. metastatic carcinoma in the adrenal medulla metastatic carcinoma to the adrenal medulla metastatic carcinoma in the adrenal medulla MONDO:0024873 A carcinoma that arises from the clitoris. clitoral cancer carcinoma of clitoris carcinoma of the clitoris clitoral carcinoma clitoris carcinoma clitoral carcinoma MONDO:0024876 A disease that involves the tendon sheath. disease of tendon sheath disease or disorder of tendon sheath disorder of tendon sheath tendon sheath disease tendon sheath disease or disorder tendon sheath disorder tendon sheath disorder MONDO:0024877 A neoplasm involving a clitoris. clitoral neoplasm clitoris tumor neoplasm of clitoris tumor of clitoris clitoris neoplasm MONDO:0024878 A carcinoma that arises from a pre-existing lower grade epithelial lesion, or as a result of a primary carcinoma that has spread to secondary sites, or due to a complication of a cancer treatment. secondary carcinoma Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future. secondary carcinoma MONDO:0024879 A carcinoma which has spread from the original site of growth to another anatomic site. metastatic carcinoma Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future. metastatic carcinoma MONDO:0024880 A malignant tumor that has spread from its original (primary) site of growth to another site close to or distant from the primary site. malignant metastatic neoplasm metastatic cancer metastatic malignant neoplasm metastatic neoplasm, malignant Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future. metastatic malignant neoplasm MONDO:0024881 A malignant neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment. secondary cancer secondary malignancy secondary malignant neoplasm Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future. secondary malignant neoplasm MONDO:0024882 A neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment. secondary neoplasm secondary tumor Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future. secondary neoplasm MONDO:0024883 A tumor that has spread from its original (primary) site of growth to another site, close to or distant from the primary site. Metastasis is characteristic of advanced malignancies, but in rare instances can be seen in neoplasms lacking malignant morphology. metastatic disease metastatic neoplasm metastatic tumor Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future. metastatic neoplasm MONDO:0024884 A carcinoma that has spread to the bone from another, primary anatomic site. Bone is one of the most frequent sites of metastatic carcinoma. Common sites of origin include lung, breast, and prostate. metastatic carcinoma in the bone metastatic carcinoma to the bone metastatic carcinoma in the bone MONDO:0024885 An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia. It includes serous adenocarcinoma and serous adenocarcinofibroma. malignant ovarian serous tumor ovarian serous tumor, malignant malignant ovarian serous tumor MONDO:0024886 A benign adenofibroma characterized by the presence of serous secretory cells and minute cystic spaces filled with watery fluid. A representative example is the ovarian serous adenofibroma. Cases with epithelial atypia described in the ovary lacking stromal invasion are designated as borderline serous adenofibromas and have a low grade malignant potential. serous adenofibroma serous adenofibroma MONDO:0024888 An epithelial neoplasm of the female reproductive system arising from mesonephric remnants. Wolffian duct neoplasm Wolffian duct tumor mesonephric duct neoplasm mesonephric duct tumor mesonephric neoplasm mesonephric tumor mesonephroma neoplasm of mesonephric duct tumor of mesonephric duct mesonephric neoplasm MONDO:0024889 A benign epithelial neoplasm of the female reproductive system arising from mesonephric remnants. Mesonephroma, benign Mesonephroma, benign (morphologic abnormality) Wolffian duct adenoma benign Mesonephroma benign mesonephric neoplasm mesonephric adenoma mesonephric duct adenoma mesonephric neoplasm, benign benign mesonephroma MONDO:0024890 A neoplasm arising from the pineocyte, a cell with photosensory and neuroendocrine functions. It may be composed of mature elements or primitive, immature cells. The cellular composition determines the biological behavior and clinical outcome. Three types are recognized: pineoblastoma, pineocytoma, and pineal parenchymal tumor of intermediate differentiation (Adapted from WHO.) neoplasm of pineal gland neoplasm of the pineal gland pineal gland neoplasm pineal gland tumor pineal parenchymal cell neoplasm pineal parenchymal cell tumor pineal parenchymal neoplasm pineal parenchymal tumor pineocytic neoplasm pineocytic tumor tumor of pineal gland tumor of the pineal gland pineal parenchymal cell neoplasm MONDO:0024891 non-infective meningitis non-infectious meningitis MONDO:0024892 A soft tissue neoplasm composed of acellular amyloid material. amyloid neoplasm amyloid tumor (morphologic abnormality) soft tissue amyloid neoplasm soft tissue amyloid tumor amyloid tumor soft tissue amyloid neoplasm MONDO:0024893 Human infection with the larvae of canine or feline roundworms Toxocara catis infection (feline roundworms) toxocara canis infection (canine roundworms) MONDO:0024954 A condition produced in humans by the prolonged migration of animal nematode larvae in extraintestinal tissues other than skin; characterized by persistent hypereosinophilia, hepatomegaly, and frequently pneumonitis, commonly caused by Toxocara canis and Toxocara cati. Migran, visceral larva larva Migran, visceral migrans, visceral larva visceral larva Migran visceral larva migrans visceral larva migrans syndrome larva migrans, visceral MONDO:0024988 A reproductive organ benign neoplasm that arises in the ovary or testis and that is composed of granulosa cells, Leydig cells, Sertoli cells, and/or fibroblasts. sex cord-stromal benign neoplasm MONDO:0025193 Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset hereditary muscle disease. People with OPDM present with progressive eye and throat (pharyngeal) problems and involvement of the muscles of the lower legs and arms. Symptoms may include eyelid drooping (ptosis), swallowing difficulty, hoarse and nasal voice, leg and arm weakness, as well as muscle wasting in the face and in the legs and arms. Many people have respiratory problems due to respiratory muscle weakness. In rare cases, there is also hearing loss, as well as severe weakness in muscles of the forearms and thighs. As the disease progresses, other muscles may be affected. A blood exam may show an increased creatine kinase level and an abnormal EMG. Inheritance may be autosomal dominant or autosomal recessive. The specific cause is still unknown. OPDM oculopharyngeal distal myopathy oculopharyngodistal myopathy faciooculolaryngopharyngeal myopathy with distal and respiratory involvement oculopharyngodistal myopathy https://rarediseases.info.nih.gov/diseases/12592/oculopharyngodistal-myopathy MONDO:0025294 Bacterial, viral, or parasitic diseases transmitted to humans and animals by the bite of infected ticks. The families Ixodidae and Argasidae contain many bloodsucking species that are important pests of man and domestic birds and mammals and probably exceed all other arthropods in the number and variety of disease agents they transmit. Many of the tick-borne diseases are zoonotic. Tick borne diseases Tick borne infections Tick-borne disease Tick-borne infection Tick-borne infections disease, Tick-borne diseases, Tick-borne infection, Tick-borne infections, Tick borne infections, Tick-borne tick-borne infectious disease MONDO:0025303 An disease or disorder caused by infection with Anaplasma. https://github.com/monarch-initiative/mondo/issues/5537 anaplasma caused disease or disorder anaplasma disease or disorder anaplasma infectious disease anaplasmosis MONDO:0025351 https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 Linked syndrome MCAND multiple congenital anomalies-neurodevelopmental syndrome, X-linked, X-linked recessive multiple congenital anomalies-neurodevelopmental syndrome, X-linked MONDO:0025353 https://github.com/monarch-initiative/mondo/issues/4521 DEE90 developmental and epileptic encephalopathy 90 developmental and epileptic encephalopathy 90, X-linked recessive, X-linked dominant developmental and epileptic encephalopathy, 90 MONDO:0025354 https://github.com/monarch-initiative/mondo/issues/4521 SPGFX3 spermatogenic failure, X-linked, 3 spermatogenic failure, X-linked, 3, X-linked recessive spermatogenic failure, X-linked, 3 MONDO:0025356 https://github.com/monarch-initiative/mondo/issues/4521 OAZON azoospermia, obstructive, with nephrolithiasis, X-linked recessive azoospermia, obstructive, with nephrolithiasis MONDO:0025371 Virus infections caused by the parvoviridae. Parvoviridae caused disease or disorder Parvoviridae disease or disorder disease due to Parvoviridae Parvoviridae infection Parvovirus infection Parvovirus infections disease caused by Parvoviridae infection, Parvoviridae infection, Parvovirus infections, Parvoviridae infections, Parvovirus Parvoviridae infectious disease MONDO:0025445 Grouping for the X-linked form seen mostly in males and female-restricted Wieacker-Wolff syndrome (spectrum) MONDO:0025481 An infectious disease of non-human animals that may be transmitted to humans or may be transmitted from humans to non-human animals, caused by a pathogen (an infectious agent, including bacteria, viruses, parasites, prions, etc). https://github.com/monarch-initiative/mondo/issues/5898 2023-05-01 zoonoses zoonotic disease zoonotic diseases zoonotic infection zoonotic infections disease, zoonotic disease, zoonotic infectious diseases, zoonotic diseases, zoonotic infectious infection, zoonotic infections, zoonotic infectious disease, zoonotic infectious diseases, zoonotic zoonotic infectious disease zoonotic infectious diseases Reason of obsoletion: out of scope - MONDO:excludeEvent. Term to consider: - zoonosis MONDO:0025511 An instance of neuroendocrine neoplasm that is caused by an inherited modification of the individual's genome. hereditary neuroendocrine neoplasm genetic neuroendocrine tumor inherited neuroendocrine tumor MONDO:0025512 A disease that has its basis in the disruption of type II hypersensitivity. disorder of type II hypersensitivity type II hypersensitivity disease Note that DO combines autoimmune and type II hypersensitivity in one concept (2018-06-22) type II hypersensitivity reaction disease MONDO:0025513 An autoimmune form of urticaria (disease). autoimmune urticaria autoimmune urticaria (disease) autoimmune urticaria MONDO:0025514 Livedoid vasculopathy is a blood vessel disorder that causes painful ulcers and scarring (atrophie blanche) on the feet and lower legs. These symptoms can persist for months to years and the ulcers often recur.Livedoid vasculopathy lesions appear as painful red or purple marks and spots that may progress to small, tender, irregular ulcers. Symptoms tend to worsen in the winter and summer months, and affect women more often then men. Livedoid vasculopathy may occur alone or in combination with another condition, such as lupus or thrombophilia. https://github.com/monarch-initiative/mondo/issues/5537 livedoid vasculitis livedoid vasculopathy idiopathic atrophic blanche livedo reticularis with summer ulcerations livedo reticularis with winter ulcerations livedo vasculitis segmental hyalinizing vasculopathy white atrophy livedoid vasculopathy MONDO:0025556 isocyanates allergic asthma isocyanate induced asthma MONDO:0025598 An pneumonia caused by infection with Chlamydia. Chlamydia caused pneumonia Chlamydia pneumonia chlamydia pneumonia chlamydial pneumonia pneumonia caused by chlamydia MONDO:0025622 CMTMA1 Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1 MONDO:0025667 limbal stem cell deficiency MONDO:0025690 MEDS2 microcephaly, epilepsy, and diabetes syndrome 2 MONDO:0025691 DYT30 dystonia 30 MONDO:0025699 CSS12 Coffin-Siris syndrome 12 MONDO:0025701 HLD22 leukodystrophy, hypomyelinating, 22 MONDO:0025708 MMIHS2 megacystis-microcolon-intestinal hypoperistalsis syndrome 2 MONDO:0025712 HAE4 angioedema, hereditary, 4 MONDO:0025713 HAE7 angioedema, hereditary, 7 MONDO:0025956 Ovarian remnant syndrome (ORS) is characterized by the presence of residual ovarian tissue after a woman has had surgery to remove one ovary or both ovaries (oophorectomy). Signs and symptoms may include pelvic pain, a pelvic mass, or the absence of menopause after oophorectomy. The condition may be caused by surgical factors leading to incomplete removal of ovarian tissue, including factors that limit surgical exposure of the ovary or compromise surgical technique. Factors may include pelvic adhesions (limiting ability to see the ovary or causing it to adhere to other tissues); anatomic variations; bleeding during surgery; or poor surgical technique. Treatment is indicated for people with symptoms and typically involves surgery to remove the residual tissue. Therapy for those who refuse surgery, cannot have surgery, or do not have a pelvic mass may include hormonal therapy to suppress ovarian function. ovarian remnant syndrome MONDO:0025986 megacystis-microcolon-intestinal hypoperistalsis syndrome MONDO:0026045 Prurigonodularis (PN) is a skin disease in which hard crusty lumps are formed on the skin that itches intensely. Repetitive rubbing, scratching, and touching results in more lesions in the skin. The itching is so intense that people scratch themselves to the point of bleeding or pain. The lumps formed in the skin are hard, and have about a half inch across, with a dry and rough top that is often scratched open. They tend to be located in the areas most easily reached and are worse on the outer sides: arms, shoulders and legs. The trunk, face and even palms can also be affected. The exact cause is unknown but some factors triggering PN include liver and kidneys problems, nervous and mental conditions and other skin diseases. Prurigo nodulares, in some cases, can be seen in other diseases such as lymphoma, chronic autoimmune cholestatic hepatitis, HIV infection, severe anemia,or a chronic kidney disease-related itching known as uremic pruritus. Treatment is very difficult, and may include corticoids, antihistaminic and other medication such as thalidomide and similar (Lenalidomide). In some cases, cryotherapy, photochemotherapy and habit reversal therapy for the itch-scratch cycle has improved the symptoms. PN can last for many years, and the itching is so intense that may affect all the everyday activities. prurigo nodularis MONDO:0026404 https://github.com/monarch-initiative/mondo/issues/4521 X inactivation, familial skewed, 1 X-inactivation, familial skewed X-inactivation, familial skewed, 1 SXI1 X INACTIVATION, FAMILIAL SKEWED, 1 X inactivation, familial skewed, 1 MONDO:0026426 X-inactivation, familial skewed, 2 SXI2 X INACTIVATION, FAMILIAL SKEWED, 2 X inactivation, familial skewed, 2 MONDO:0026720 https://github.com/monarch-initiative/mondo/issues/4521 mitochondrial complex i deficiency, nuclear type 12, X-linked recessive MC1DN12 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 mitochondrial complex 1 deficiency, nuclear type 12 MONDO:0026721 MC1DN30 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30 mitochondrial complex 1 deficiency, nuclear type 30 MONDO:0026722 MKMS MULLEGAMA-KLEIN-MARTINEZ SYNDROME Neurodevelopmental Disorder, X-Linked, With Craniofacial Abnormalities Mullegama-Klein-Martinez syndrome MONDO:0026723 https://github.com/monarch-initiative/mondo/issues/4521 intellectual developmental disorder, X-linked 108, X-linked recessive INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108 MRX108 Mental Retardation, X-Linked 108 intellectual developmental disorder, X-linked 108 MONDO:0026724 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 Paganini-Miozzo syndrome, X-linked recessive mental retardation, X-Linked, syndromic, Paganini-Miozzo type MRXSPM PAGANINI-MIOZZO SYNDROME Paganini-Miozzo syndrome MONDO:0026726 NEPHROTIC SYNDROME, TYPE 20 NPHS20 nephrotic syndrome, type 20 MONDO:0026727 https://github.com/monarch-initiative/mondo/issues/4521 Shukla-Vernon syndrome, X-linked recessive SHUKLA-VERNON SYNDROME SHUVER Shukla-Vernon syndrome MONDO:0026729 https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 congenital disorder of glycosylation, type Icc, X-linked recessive CDG1CC CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc congenital disorder of glycosylation, type ICC MONDO:0026730 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 Basilicata-Akhtar syndrome Basilicata-Akhtar syndrome, X-linked dominant MRXSBA Mental Retardation, X-Linked, Syndromic 36 Mental Retardation, X-Linked, Syndromic, Basilicata-Akhtar Type Basilicata-Akhtar syndrome MONDO:0026731 https://github.com/monarch-initiative/mondo/issues/4069 CHNG8 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8 hypothyroidism, congenital, nongoitrous, 8 MONDO:0026732 https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 hypothyroidism, congenital, nongoitrous, 9, X-linked recessive CHNG9 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9 hypothyroidism, congenital, nongoitrous, 9 MONDO:0026733 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type, X-linked recessive INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE MRXSHD Mental Retardation, X-Linked, With Marfanoid Habitus, 2 intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type MONDO:0026762 https://github.com/monarch-initiative/mondo/issues/4521 Wieacker-Wolff syndrome, female-restricted, X-linked dominant WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED WRWFFR Wieacker-Wolff syndrome, female-restricted MONDO:0026763 https://github.com/monarch-initiative/mondo/issues/4521 holoprosencephaly 13, X-linked, X-linked recessive, X-linked dominant HOLOPROSENCEPHALY 13, X-LINKED HPE13 holoprosencephaly 13, X-linked MONDO:0026765 https://github.com/monarch-initiative/mondo/issues/4521 congenital disorder of glycosylation, type IIr, X-linked recessive CDG IIr CDG2R CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr congenital disorder of glycosylation, type IIr MONDO:0026767 https://github.com/monarch-initiative/mondo/issues/4521 immunodeficiency 74, COVID19-related, X-linked, X-linked recessive IMD74 IMMUNODEFICIENCY 74, COVID19-RELATED, X-LINKED TLR7 deficiency respiratory insufficiency due to SARS-CoV-2 viral infection immunodeficiency 74, COVID-19-related, X-linked MONDO:0026771 https://github.com/monarch-initiative/mondo/issues/4521 DEE85, with or without midline brain defects EIEE85 developmental and epileptic encephalopathy 85, with or without midline brain defects, X-linked dominant epileptic encephalopathy, early infantile, 85, with or without midline brain defects developmental and epileptic encephalopathy, 85, with or without midline brain defects MONDO:0026777 An adult-onset inflammatory disease that affects only males and is caused by somatic, not germline, mutations. The disorder is characterized by adult onset of rheumatologic symptoms at a mean age of 64 years. Features include recurrent fevers, pulmonary and dermatologic inflammatory manifestations, vasculitis, deep vein thrombosis, arthralgias, and ear and nose chondritis. Laboratory studies indicate hematologic abnormalities, including macrocytic anemia, as well as increased levels of acute-phase reactants; about half of patients have positive autoantibodies. Bone marrow biopsy shows degenerative vacuolization restricted to myeloid and erythroid precursor cells, as well as variable hematopoietic dyspoiesis and dysplasias. The condition does not respond to rheumatologic medications and the features may result in premature death. https://github.com/monarch-initiative/mondo/issues/4521 VEXAS VEXAS syndrome, somatic vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome VEXAS syndrome MONDO:0027026 A verrucous carcinoma of the skin or mucosa that occurs in the anogenital region. Buschke Lowenstein tumor giant condyloma acuminatum involving the prepuce and glans penis giant condyloma of Buschke and Lowenstein Buschke-Lowenstein tumor GCBL Giant condyloma Acuminatum Giant condyloma Acuminatums Giant condyloma of Buschke and Lowenstein Lowenstein tumor, Buschke anogenital type verrucous carcinoma condyloma Acuminatum, Giant condyloma Acuminatums, Giant tumor, Buschke Lowenstein tumor, Buschke-Lowenstein Buschke Lowenstein tumor MONDO:0027029 HHV-6 encephalitis refers to inflammation of the brain due to an infection with human herpesvirus 6. People who have undergone allogeneic hematopoietic cell transplantation are at an increased risk for developing HHV-6 encephalitis, particularly when umbilical cord blood stem cells are used. People with immune system disorders may also be at an increased risk for developing this infection. Signs and symptoms vary, but often include confusion, anterograde amnesia (difficulty learning new information following the onset of amnesia), short-term memory loss, and seizures.Diagnosis often involves lumbar puncture, virus testing, and MRI. EEG 's may also be recommendedwhen seizures are suspected. HHV-6 encephalitis is treated with an antiviral agent with activity against HHV-6. Long term outlook (chance of full recovery) can vary considerably depending individual patient factors. Human Herpesvirus 6 encephalitis Variant A or HHV-6A Variant B or HHV-6B HHV-6 encephalitis MONDO:0027048 https://github.com/monarch-initiative/mondo/issues/4521 DFNY2 deafness, y-linked 2, y-linked deafness, Y-linked 2 MONDO:0027068 Any mitochondrial complex 1 deficiency, mitochondrial type 1, in which the cause of the disease is a mutation in the MTND3 gene. MC1DM1 mitochondrial complex I deficiency, mitochondrial type 1 mitochondrial complex 1 deficiency, mitochondrial type 1 MONDO:0027069 MC5DM1 mitochondrial complex V (ATP synthase) deficiency, mitochondrial type 1 mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 MONDO:0027091 sialadenitis, xanthogranulomatous xanthogranulomatous salivary gland disease xanthogranulomatous sialadenitis MONDO:0027353 A dyskeratosis congenita that has material basis in an autosomal recessive mutation of TERT on chromosome 5p15.33. DKCB4 dyskeratosis congenita, autosomal recessive 4 OMIM includes this term with with DKCA2 autosomal recessive dyskeratosis congenita 4 MONDO:0027407 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of EHMT1 on chromosome 9q34.3. 9q-syndrome KLEFS1 Kleefstra syndrome chromosome 9q34.3 deletion syndrome Kleefstra syndrome 1 Kleefstra syndrome 1 MONDO:0027451 An autosomal recessive cutis laxa type II classic type characterized by cardiovascular and neurologic involvement and that has material basis in homozygous mutation in the ATP6V1A gene on chromosome 3q13. ARCL2D autosomal recessive cutis laxa type IID cutis laxa, autosomal recessive, type 2D cutis laxa, autosomal recessive, type IID autosomal recessive cutis laxa type 2D MONDO:0027462 An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has material basis in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11. ARCL2C autosomal recessive cutis laxa type IIC cutis laxa, autosomal recessive, type 2C cutis laxa, autosomal recessive, type IIC autosomal recessive cutis laxa type 2C MONDO:0027652 https://github.com/monarch-initiative/mondo/issues/5507 https://github.com/monarch-initiative/mondo/issues/5652 This Orphent class is meant to represent specific biomarkers that predispose an individual to 5-flourouracil toxicity. 5-fluorouracil toxicity MONDO:0027653 abacavir toxicity MONDO:0027655 allopurinol toxicity MONDO:0027664 cisplatin toxicity MONDO:0027666 codeine toxicity MONDO:0027667 efavirenz toxicity MONDO:0027668 flucloxacilline toxicity MONDO:0027675 irinotecan toxicity MONDO:0027676 Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the TBX18 gene. TBX18 congenital anomaly of kidney and urinary tract congenital anomalies of kidney and urinary tract 2 congenital anomalies of kidney and urinary tract type 2 congenital anomaly of kidney and urinary tract caused by mutation in TBX18 CAKUT2 hydronephrosis due to Pujo multicystic renal dysplasia, bilateral pelviureteric junction obstruction ureteropelvic junction obstruction congenital anomalies of kidney and urinary tract 2 MONDO:0027677 isoniazid toxicity MONDO:0027687 raltegravir toxicity MONDO:0027694 ALS23 amyotrophic lateral sclerosis 23 amyotrophic lateral sclerosis type 23 MONDO:0027696 voriconazole toxicity MONDO:0027749 serpinopathy MONDO:0027766 Almost complete absence of subcutaneous and/or visceral adipose tissue. complete generalized lipodystrophy generalized lipodystrophy MONDO:0027767 Loss and redistribution of subcutaneous and/or visceral adipose tissue from specific regions of the body. partial lipodystrophy MONDO:0027772 A morphologic variant of lung adenocarcinoma characterized by the presence of mucin pools containing islands of well differentiated adenocarcinoma cells. lung colloid adenocarcinoma lung mucinous cystadenocarcinoma lung mucinous cystic tumor of borderline malignancy mucinous lung adenocarcinoma lung colloid adenocarcinoma MONDO:0028226 autosomal recessive severe congenital neutropenia MONDO:0028618 gastroenteric neuroendocrine neoplasm MONDO:0029000 A condition or physical state produced by the ingestion, injection, inhalation of or exposure to a deleterious agent. Poisonings intoxication poisoning syndrome poisoning MONDO:0029130 polydactyly, postaxial, type A8 PAPA8 polydactyly, postaxial, type A8 MONDO:0029131 peripheral neuropathy, autosomal recessive, with or without impaired intellectual development PNRIID peripheral neuropathy, autosomal recessive, with or without impaired intellectual development MONDO:0029132 Liddle syndrome 3 LIDLS3 Liddle syndrome 3 MONDO:0029133 muscular dystrophy, limb-girdle, autosomal dominant 4 LGMDD4 muscular dystrophy, limb-girdle, type 1I muscular dystrophy, limb-girdle, autosomal dominant 4 MONDO:0029134 IMD58 immunodeficiency 58 severe combined immunodeficiency due to CARMIL2 deficiency MONDO:0029135 https://github.com/monarch-initiative/mondo/issues/4521 LGMD-POMGNT2 related myopathy muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 MDDGC8 Muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related muscular dystrophy, limb-girdle, autosomal recessive 24 muscular dystrophy-dystroglycanopathy (limb-girdle), TYPE C, 8 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 MONDO:0029136 laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 muscular dystrophy, limb-girdle, autosomal recessive 23 LGMDR23 muscular dystrophy, limb-girdle, autosomal recessive 23 MONDO:0029137 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA74 deafness, autosomal dominant 74 hearing loss, autosomal dominant 74 MONDO:0029138 https://github.com/monarch-initiative/mondo/issues/4521 DEE67 EIEE67 developmental and epileptic encephalopathy 67 epileptic encephalopathy, early infantile, 67 developmental and epileptic encephalopathy, 67 MONDO:0029140 https://github.com/monarch-initiative/mondo/issues/4521 developmental and epileptic encephalopathy 95 glycosylphosphatidylinositol biosynthesis defect 18 GPIBD18 glycosylphosphatidylinositol biosynthesis defect 18 MONDO:0029141 Usher syndrome, type IV USH4 Usher syndrome, type 4 MONDO:0029142 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB111 deafness, autosomal recessive 111 hearing loss, autosomal recessive 111 MONDO:0029143 IDDHDF INTELLECTUAL DEVELOPMENTAL disorder WITH HYPERTELORISM AND DISTINCTIVE FACIES chromosome 14q32 deletion syndrome intellectual developmental disorder with hypertelorism and distinctive facies MONDO:0029144 https://github.com/monarch-initiative/mondo/issues/4521 extraoral halitosis due to MTO deficiency EHMTO EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY METHANETHIOL Oxidase Deficiency MTO Deficiency extraoral halitosis with dimethylsulfoxiduria extraoral halitosis due to methanethiol oxidase deficiency MONDO:0029145 Cleft 51P With or Without Cleft Palate, Nonsyndromic, 8 OFC8 OROFACIAL CLEFT 8 orofacial cleft 8 MONDO:0029147 SPERMATOGENIC FAILURE 33 SPGF33 spermatogenic failure 33 MONDO:0029148 SPERMATOGENIC FAILURE 34 SPGF34 spermatogenic failure 34 MONDO:0029465 MRD69 intellectual developmental disorder, autosomal dominant 69 mental retardation, autosomal dominant 69 intellectual developmental disorder, autosomal dominant 69 MONDO:0030004 AUTISM, SUSCEPTIBILITY TO, 20 AUTS20 autism, susceptibility to, 20 autism, susceptibility to, 20 MONDO:0030005 EPEDD EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY epilepsy, early-onset, with or without developmental delay epilepsy, early-onset, with or without developmental delay MONDO:0030006 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40 COXPD40 combined oxidative phosphorylation deficiency 40 combined oxidative phosphorylation deficiency 40 MONDO:0030007 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41 COXPD41 combined oxidative phosphorylation deficiency 41 combined oxidative phosphorylation deficiency 41 MONDO:0030008 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42 COXPD42 combined oxidative phosphorylation deficiency 42 combined oxidative phosphorylation deficiency 42 MONDO:0030009 ALOPECIA-MENTAL RETARDATION SYNDROME 4 APMR4 alopecia-intellectual disability syndrome 4 alopecia-mental retardation syndrome 4 alopecia-intellectual disability syndrome 4 MONDO:0030010 HH25 HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA hypogonadotropic hypogonadism 25 with anosmia hypogonadotropic hypogonadism 25 with anosmia MONDO:0030012 DIETS-JONGMANS SYNDROME DIJOS Intellectual Developmental Disorder With Distinctive Facial Dysmorphism diets-jongmans syndrome Diets-Jongmans syndrome MONDO:0030013 IMD66 IMMUNODEFICIENCY 66 immunodeficiency 66 immunodeficiency 66 MONDO:0030014 LGMDR26 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26 muscular dystrophy, limb-girdle, autosomal recessive 26 muscular dystrophy, limb-girdle, autosomal recessive 26 MONDO:0030015 BMFS6 BONE MARROW FAILURE SYNDROME 6 bone marrow failure syndrome 6 bone marrow failure syndrome 6 MONDO:0030017 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43 COXPD43 combined oxidative phosphorylation deficiency 43 combined oxidative phosphorylation deficiency 43 MONDO:0030018 AIEFL AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY Cleavage-Resistant Ripk1-Induced Autoinflammatory Syndrome Cria Syndrome autoinflammation with episodic fever and lymphadenopathy autoinflammation with episodic fever and lymphadenopathy MONDO:0030019 ANAUXETIC DYSPLASIA 3 ANXD3 anauxetic dysplasia 3 anauxetic dysplasia 3 MONDO:0030020 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44 COXPD44 combined oxidative phosphorylation deficiency 44 combined oxidative phosphorylation deficiency 44 MONDO:0030024 https://github.com/monarch-initiative/mondo/issues/3680 NEDASB NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities MONDO:0030025 https://github.com/monarch-initiative/mondo/issues/3680 NEDHYMS NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES neurodevelopmental disorder with hypotonia, microcephaly, and seizures neurodevelopmental disorder with hypotonia, microcephaly, and seizures MONDO:0030026 RDLKD RETINAL DYSTROPHY WITH LEUKODYSTROPHY retinal dystrophy with leukodystrophy retinal dystrophy with leukodystrophy MONDO:0030027 ETM6 TREMOR, HEREDITARY ESSENTIAL, 6 tremor, hereditary essential, 6 tremor, hereditary essential, 6 MONDO:0030028 CONATOC NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline MONDO:0030029 SDJLABA SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE skeletal dysplasia, mild, with joint laxity and advanced bone age skeletal dysplasia, mild, with joint laxity and advanced bone age MONDO:0030030 NIZIDS NIZON-ISIDOR SYNDROME nizon-isidor syndrome Nizon-Isidor syndrome MONDO:0030031 LIS10 LISSENCEPHALY 10 lissencephaly 10 lissencephaly 10 MONDO:0030033 https://github.com/monarch-initiative/mondo/issues/4521 SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS SENEBAC seizures, early-onset, with neurodegeneration and brain calcification seizures, early-onset, with neurodegeneration and brain calcifications seizures, early-onset, with neurodegeneration and brain calcifications MONDO:0030034 EPILEPSY, PROGRESSIVE MYOCLONIC, 11 EPM11 epilepsy, progressive myoclonic, 11 epilepsy, progressive myoclonic, 11 MONDO:0030035 LEUDEN LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME Leuden Syndrome leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome MONDO:0030036 LEMSPAD LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME Lemspad Syndrome leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome MONDO:0030037 https://github.com/monarch-initiative/mondo/issues/3680 Glycosylphosphatidylinositol Biosynthesis Defect 22 NEDHCAS NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures MONDO:0030038 GLAUCOMA, PRIMARY CLOSED-ANGLE GLCC glaucoma, primary closed-angle glaucoma, primary closed-angle MONDO:0030042 https://github.com/monarch-initiative/mondo/issues/4521 PROCHOB PROTEINURIA, CHRONIC BENIGN proteinuria, chronic benign proteinuria, chronic benign MONDO:0030043 https://github.com/monarch-initiative/mondo/issues/4069 CDG2T CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt Cdg Iit congenital disorder of glycosylation, type iit MONDO:0030044 PSEUDO-TORCH SYNDROME 3 PTORCH3 pseudo-torch syndrome 3 pseudo-TORCH syndrome 3 MONDO:0030045 A progressive disorder involving connective tissue, bone, retina, ear, and brain, characterized by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature. https://github.com/monarch-initiative/mondo/issues/4928 LIBF Liberfarb syndrome short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome spondyloepimetaphyseal dysplasia, Liberfarb Type Liberfarb syndrome MONDO:0030046 https://github.com/monarch-initiative/mondo/issues/3680 NEDBASS NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity MONDO:0030047 MDBH MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME microcephaly, developmental delay, and brittle hair syndrome microcephaly, developmental delay, and brittle hair syndrome MONDO:0030048 HARDEROPORPHYRIA HARPO harderoporphyria harderoporphyria MONDO:0030049 46,XX SEX REVERSAL 5 46,xx sex reversal 5 SRXX5 46,xx sex reversal 5 MONDO:0030051 IDDALDS INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES intellectual developmental disorder with autistic features and language delay, with or without seizures intellectual developmental disorder with autistic features and language delay, with or without seizures MONDO:0030054 https://github.com/monarch-initiative/mondo/issues/4521 DEE86 EIEE86 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 86 developmental and epileptic encephalopathy 86 epileptic encephalopathy, early infantile, 86 developmental and epileptic encephalopathy, 86 MONDO:0030055 SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY SORDD Sorbitol Dehydrogenase Deficiency sorbitol dehydrogenase deficiency with peripheral neuropathy sorbitol dehydrogenase deficiency with peripheral neuropathy MONDO:0030056 FANCONI RENOTUBULAR SYNDROME 5 FRTS5 Fanconi Renotubular Syndrome, Acadian Variant Fanconi renotubular syndrome 5 Fanconi renotubular syndrome 5 MONDO:0030057 NEDJED NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME neurodevelopmental, jaw, eye, and digital syndrome neurodevelopmental, jaw, eye, and digital syndrome MONDO:0030058 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA77 deafness, autosomal dominant 77 hearing loss, autosomal dominant 77 MONDO:0030059 https://github.com/monarch-initiative/mondo/issues/4521 DEE87 EIEE87 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 87 developmental and epileptic encephalopathy 87 epileptic encephalopathy, early infantile, 87 developmental and epileptic encephalopathy, 87 MONDO:0030060 https://github.com/monarch-initiative/mondo/issues/3680 NEDLIB NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES neurodevelopmental disorder with language impairment and behavioral abnormalities neurodevelopmental disorder with language impairment and behavioral abnormalities MONDO:0030061 PERIVENTRICULAR NODULAR HETEROTOPIA 9 PVNH9 periventricular nodular heterotopia 9 periventricular nodular heterotopia 9 MONDO:0030062 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14 ARVD14 Arrhythmogenic Right Ventricular Cardiomyopathy 14 arrhythmogenic right ventricular dysplasia, familial, 14 arrhythmogenic right ventricular dysplasia, familial, 14 MONDO:0030063 https://github.com/monarch-initiative/mondo/issues/3680 https://github.com/monarch-initiative/mondo/issues/4521 NEDSHBA NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities MONDO:0030064 EA9 EPISODIC ATAXIA, TYPE 9 episodic ataxia, type 9 episodic ataxia, type 9 MONDO:0030065 ACOGS AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME agenesis of corpus callosum, cardiac, ocular, and genital syndrome agenesis of corpus callosum, cardiac, ocular, and genital syndrome MONDO:0030066 https://github.com/monarch-initiative/mondo/issues/4521 CGD5 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5 Granulomatous Disease, Chronic, Due to Cybc1 Deficiency chronic granulomatous disease 5, autosomal recessive granulomatous disease, chronic, autosomal recessive, 5 granulomatous disease, chronic, autosomal recessive, 5 MONDO:0030067 https://github.com/monarch-initiative/mondo/issues/4521 TCS4 TREACHER COLLINS SYNDROME 4 Treacher-Collins syndrome 4 treacher collins syndrome 4 Treacher Collins syndrome 4 MONDO:0030069 HIES5 HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE hyper-IgE recurrent infection syndrome 5, autosomal recessive hyper-IgE recurrent infection syndrome 5, autosomal recessive MONDO:0030070 HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY HTX9 heterotaxy, visceral, 9, autosomal, with male infertility heterotaxy, visceral, 9, autosomal, with male infertility MONDO:0030071 RETINITIS PIGMENTOSA 89 RP89 retinitis pigmentosa 89 retinitis pigmentosa 89 MONDO:0030072 https://github.com/monarch-initiative/mondo/issues/4521 DEE88 EIEE88 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 88 developmental and epileptic encephalopathy 88 epileptic encephalopathy, early infantile, 88 developmental and epileptic encephalopathy, 88 MONDO:0030073 https://github.com/monarch-initiative/mondo/issues/5083 ACOX1 dysregulation MITCH Mitchell syndrome Mitchell syndrome MONDO:0030074 SMDCD SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY spondylometaphyseal dysplasia with corneal dystrophy spondylometaphyseal dysplasia with corneal dystrophy MONDO:0030077 Congenital Nad Deficiency Disorder 3 VCRL3 VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3 vertebral, cardiac, renal, and limb defects syndrome 3 vertebral, cardiac, renal, and limb defects syndrome 3 MONDO:0030087 https://github.com/monarch-initiative/mondo/issues/4521 DIABETES MELLITUS, PERMANENT NEONATAL 2 Developmental Delay, Epilepsy, and Neonatal Diabetes 1 PNDM2 diabetes mellitus, permanent neonatal 2 diabetes, permanent neonatal 2, with or without neurologic features diabetes mellitus, permanent neonatal 2 MONDO:0030088 https://github.com/monarch-initiative/mondo/issues/4521 DIABETES MELLITUS, PERMANENT NEONATAL 3 Developmental Delay, Epilepsy, and Neonatal Diabetes 2 PNDM3 diabetes mellitus, permanent neonatal 3 diabetes mellitus, permanent neonatal 3, with or without neurologic features diabetes mellitus, permanent neonatal 3 MONDO:0030089 DIABETES MELLITUS, PERMANENT NEONATAL 4 PNDM4 diabetes mellitus, permanent neonatal 4 diabetes mellitus, permanent neonatal 4 MONDO:0030105 https://github.com/monarch-initiative/mondo/issues/4985 https://github.com/monarch-initiative/mondo/issues/5835 GALAC4 GALACTOSEMIA IV Galactose Mutarotase Deficiency galactosemia iv GALM mutarotase deficiency galactosemia 4 MONDO:0030116 SILVER-RUSSELL SYNDROME 2 SRS2 Uniparental Disomy, Maternal, Chromosome 7 silver-russell syndrome 2 silver-russell syndrome 2 MONDO:0030118 SILVER-RUSSELL SYNDROME 4 SRS4 silver-russell syndrome 4 silver-russell syndrome 4 MONDO:0030134 OCULOPHARYNGODISTAL MYOPATHY 2 OPDM2 oculopharyngodistal myopathy 2 oculopharyngodistal myopathy 2 MONDO:0030258 PCH14 pontocerebellar hypoplasia, type 14 pontocerebellar hypoplasia, type 14 MONDO:0030259 PCH15 pontocerebellar hypoplasia, type 15 pontocerebellar hypoplasia, type 15 MONDO:0030260 PCH1E pontocerebellar hypoplasia, type 1E pontocerebellar hypoplasia, type 1E MONDO:0030261 PCH1F pontocerebellar hypoplasia, type 1F pontocerebellar hypoplasia, type 1F MONDO:0030263 HLD21 leukodystrophy, hypomyelinating, 21 leukodystrophy, hypomyelinating, 21 MONDO:0030266 An autosomal recessive immunologic disorder with variable manifestations. One patient with infantile-onset of chronic cytomegalovirus (CMV) infection associated with severely decreased NK cells has been reported. Another family with 3 affected fetuses showing restrictive cardiomyopathy and hypoplasia of the spleen and thymus has also been reported. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5261 IMD80 MCM10 deficiency immunodeficiency 80 with or without cardiomyopathy immunodeficiency 80 with or without congenital cardiomyopathy immunodeficiency with or without congenital cardiomyopathy immunodeficiency 80 with or without congenital cardiomyopathy MONDO:0030268 https://github.com/monarch-initiative/mondo/issues/4521 DEE6B developmental and epileptic encephalopathy 6B developmental and epileptic encephalopathy 6B, non-Dravet developmental and epileptic encephalopathy 6B MONDO:0030270 LMPHM9 lymphatic malformation 9 lymphatic malformation 9 MONDO:0030281 AMC6 arthrogryposis multiplex congenita 6 arthrogryposis multiplex congenita 6 MONDO:0030293 HAE5 angioedema, hereditary, 5 angioedema, hereditary, 5 MONDO:0030294 MMIHS3 megacystis-microcolon-intestinal hypoperistalsis syndrome 3 megacystis-microcolon-intestinal hypoperistalsis syndrome 3 MONDO:0030296 MMIHS4 megacystis-microcolon-intestinal hypoperistalsis syndrome 4 megacystis-microcolon-intestinal hypoperistalsis syndrome 4 MONDO:0030298 HAE8 angioedema, hereditary, 8 angioedema, hereditary, 8 MONDO:0030300 CMD2D cardiomyopathy, dilated, 2D cardiomyopathy, dilated, 2D MONDO:0030302 A human immunodeficiency characterized by early-onset life-threatening infections, combined T and B cell immunodeficiency, severe neutrophil defects, and impaired platelet aggregation, caused by a variation in the SLP76 gene. https://github.com/monarch-initiative/mondo/issues/5261 IMD81 T-B+ severe combined immunodeficiency due to SLP76 deficiency immunodeficiency 81 immunodeficiency 81 MONDO:0030307 SPGF55 spermatogenic failure 55 spermatogenic failure 55 MONDO:0030308 A complex autosomal dominant immunologic disorder characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease. One of the more common features is inflammation of the stomach and bowel. Most patients develop symptoms in infancy or early childhood; the severity is variable. There may be accompanying fever, elevated white blood cell count, decreased B cells, hypogammaglobulinemia, increased C-reactive protein (CRP), and a generalized hyperinflammatory state. Immunologic workup shows variable B- and T-cell abnormalities such as skewed subgroups. Patients have a propensity for the development of lymphoma, usually in adulthood. At the molecular level, the disorder results from a gain-of-function mutation that leads to constitutive and enhanced activation of the intracellular inflammatory signaling pathway. https://github.com/monarch-initiative/mondo/issues/5261 IMD82 immunodeficiency 82 with systemic inflammation immunodeficiency with systemic inflammation immunodeficiency 82 with systemic inflammation MONDO:0030309 LHONAR Leber hereditary optic neuropathy, autosomal recessive mitochondrial complex 1 deficiency, nuclear type 38 Leber hereditary optic neuropathy, autosomal recessive MONDO:0030311 COXPD52 combined oxidative phosphorylation deficiency 52 combined oxidative phosphorylation deficiency 52 MONDO:0030312 Barakat-Van Ham-Kaya syndrome SCAR29 neurodevelopmental disorder with hypotonia and cerebellar ataxia spinocerebellar ataxia, autosomal recessive 29 spinocerebellar ataxia, autosomal recessive 29 MONDO:0030313 https://github.com/monarch-initiative/mondo/issues/4882 https://github.com/monarch-initiative/mondo/issues/5671 IIAE10 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 herpes simplex encephalitis, susceptibility to, 7 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 MONDO:0030314 https://github.com/monarch-initiative/mondo/issues/4521 IBD31 inflammatory bowel disease (infantile ulcerative colitis) 31 inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive inflammatory bowel disease, early-onset, autosomal recessive inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive MONDO:0030316 LMPHM11 lymphatic malformation 11 lymphatic malformation 11 MONDO:0030317 CMH28 cardiomyopathy, familial hypertrophic, 28 cardiomyopathy, familial hypertrophic, 28 MONDO:0030318 SCAR30 spinocerebellar ataxia, autosomal recessive 30 spinocerebellar ataxia, autosomal recessive 30 MONDO:0030323 SCAR31 spinocerebellar ataxia, autosomal recessive 31 spinocerebellar ataxia, autosomal recessive 31 MONDO:0030326 MTDPS16B mitochondrial dna depletion syndrome 16B (neuroophthalmic type) mitochondrial dna depletion syndrome 16B (neuroophthalmic type) MONDO:0030329 MMIHS5 megacystis-microcolon-intestinal hypoperistalsis syndrome 5 megacystis-microcolon-intestinal hypoperistalsis syndrome 5 MONDO:0030330 RCM6 cardiomyopathy, familial restrictive, 6 cardiomyopathy, familial restrictive, 6 MONDO:0030331 RTSC4 Ritscher-Schinzel syndrome 4 Ritscher-Schinzel syndrome 4 MONDO:0030332 CILD46 ciliary dyskinesia, primary, 46 ciliary dyskinesia, primary, 46 MONDO:0030333 https://github.com/monarch-initiative/mondo/issues/5261 IMD84 immunodeficiency 84 immunodeficiency due to IKZF3 deficiency immunodeficiency 84 MONDO:0030334 https://github.com/monarch-initiative/mondo/issues/4882 IIAE11 encephalitis, acute, infection (viral)-induced, susceptibility to, 11 encephalitis, acute, infection (viral)-induced, susceptibility to, 11 MONDO:0030335 DIAR12 diarrhea 12, with microvillus atrophy microvillus inclusion disease 2 diarrhea 12, with microvillus atrophy MONDO:0030337 https://github.com/monarch-initiative/mondo/issues/4521 ARCL2E cutis laxa, autosomal recessive, type 2E cutis laxa, autosomal recessive, type IIE cutis laxa, autosomal recessive, type 2E MONDO:0030338 ANPH2 anencephaly 2 anencephaly 2 MONDO:0030339 MCPH28 microcephaly 28, primary, autosomal recessive microcephaly 28, primary, autosomal recessive MONDO:0030341 https://github.com/monarch-initiative/mondo/issues/4069 CMS7B myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive MONDO:0030346 CILD47 ciliary dyskinesia, primary, 47, and lissencephaly ciliary dyskinesia, primary, 47, and lissencephaly MONDO:0030353 JBTS38 Joubert syndrome 38 Joubert syndrome 38 MONDO:0030354 FSHD3 facioscapulohumeral muscular dystrophy 3, digenic facioscapulohumeral muscular dystrophy 3, digenic MONDO:0030355 https://github.com/monarch-initiative/mondo/issues/4521 FSHD4 facioscapulohumeral muscular dystrophy 4, digenic facioscapulohumeral muscular dystrophy 4, digenic, digenic dominant facioscapulohumeral muscular dystrophy 4, digenic MONDO:0030356 SRTD21 short-rib thoracic dysplasia 21 without polydactyly short-rib thoracic dysplasia 21 without polydactyly MONDO:0030360 PFIC6 cholestasis, progressive familial intrahepatic, 6 cholestasis, progressive familial intrahepatic, 6 MONDO:0030361 A type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration ending in premature death. Brain imaging shows diffusely abnormal white matter, severe cerebral atrophy, and intracranial calcification. https://github.com/monarch-initiative/mondo/issues/5261 AGS8 Aicardi-Goutieres syndrome 8 Aicardi-Goutieres syndrome 8 MONDO:0030362 A type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration. Patients present in infancy with irritability and spasticity. Brain imaging shows diffusely abnormal white matter, cerebral atrophy, and intracranial calcification. Premature death has been associated with renal and/or hepatic failure. https://github.com/monarch-initiative/mondo/issues/5261 AGS9 Aicardi-Goutieres syndrome 9 Aicardi-Goutieres syndrome 9 MONDO:0030366 CMD2E cardiomyopathy, dilated, 2E cardiomyopathy, dilated, 2E MONDO:0030374 WHIMS2 WHIM syndrome 2 MONDO:0030375 IMNEPD2 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 MONDO:0030376 MARTS2 Martsolf syndrome 2 MONDO:0030378 An autosomal recessive disorder characterized by hypomyelination, microcephaly, liver dysfunction, and recurrent hypomyelination. https://github.com/monarch-initiative/mondo/issues/5261 COXPD53 combined oxidative phosphorylation deficiency due to C2orf69 deficiency combined oxidative phosphorylation deficiency 53 MONDO:0030397 NCPH2 portal hypertension, noncirrhotic, 2 MONDO:0030399 VSCN2 visceral neuropathy, familial, 2, autosomal recessive MONDO:0030423 CDG2V congenital disorder of glycosylation, type 2v MONDO:0030428 IMD85 immunodeficiency 85 and autoimmunity MONDO:0030430 SPGF56 spermatogenic failure 56 MONDO:0030433 CMT2FF Charcot-Marie-Tooth neuropathy Charcot-Marie-Tooth disease, axonal, type 2FF MONDO:0030434 EIG18 epilepsy, idiopathic generalized, susceptibility to, 18 MONDO:0030436 SIDBA5 anemia, sideroblastic, 5 MONDO:0030437 CDG2W congenital disorder of glycosylation, type IIw MONDO:0030438 PCH16 pontocerebellar hypoplasia, type 16 MONDO:0030439 SPGF57 spermatogenic failure 57 MONDO:0030440 CORD22 cone-rod dystrophy 22 MONDO:0030448 IMD86 immunodeficiency 86 MONDO:0030449 DFNB118 deafness, autosomal recessive 118, with cochlear aplasia MONDO:0030453 DEE97 developmental and epileptic encephalopathy 97 MONDO:0030454 JBTS39 Joubert syndrome 39 MONDO:0030455 DYT31 dystonia 31 MONDO:0030456 LGMDR27 muscular dystrophy, limb-girdle, autosomal recessive 27 MONDO:0030457 An autosomal recessive immunologic disorder with wide phenotypic variation and severity. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus (EBV), as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. Laboratory studies may show low or normal lymphocyte numbers, often with skewed T-cell subset ratios. The disorder results primarily from defects in T-cell function, which causes both immunodeficiency and overall immune dysregulation. https://github.com/monarch-initiative/mondo/issues/5261 IMD87 immunodeficiency due to DEF6 deficiency immunodeficiency 87 and autoimmunity MONDO:0030458 CMT2HH Charcot-Marie-Tooth disease, axonal, Type 2HH MONDO:0030462 JBTS40 Joubert syndrome 40 MONDO:0030463 SPGF58 spermatogenic failure 58 MONDO:0030465 CTRCT49 cataract 49 MONDO:0030471 GAMOS9 Galloway-Mowat syndrome 9 MONDO:0030472 DEE98 developmental and epileptic encephalopathy 98 MONDO:0030473 DEE99 developmental and epileptic encephalopathy 99 MONDO:0030474 HTX10 heterotaxy, visceral, 10, autosomal, with male infertility MONDO:0030475 HTX11 heterotaxy, visceral, 11, autosomal, with male infertility MONDO:0030476 GAMOS10 Galloway-Mowat syndrome 10 MONDO:0030480 DFNB119 deafness, autosomal recessive 119 hearing loss, autosomal recessive 119 MONDO:0030482 SPG84 spastic paraplegia 84, autosomal recessive MONDO:0030483 An autosomal recessive immune disorder characterized specifically by the development of disseminated mycobacterial disease following vaccination with BCG. The single patient described did not develop other clinical infectious diseases, although serology documented exposure to various viruses and bacteria. Immunologic workup shows defective development of certain innate immunologic cells and decreased production of gamma-interferon (IFNG). Additional manifestations include persistent reactive airway disease associated with increased production of Th2 cytokines. https://github.com/monarch-initiative/mondo/issues/5261 IMD88 Mendelian susceptibility to mycobacterial diseases due to TBX21 deficiency immunodeficiency 88 MONDO:0030484 IMD89 immunodeficiency 89 and autoimmunity MONDO:0030486 DYT32 dystonia 32 MONDO:0030487 SMDP spondylometaphyseal dysplasia, pagnamenta type MONDO:0030489 EBS2A epidermolysis bullosa simplex 2A, generalized severe MONDO:0030490 OOMD11 oocyte maturation defect 11 MONDO:0030491 An autosomal recessive immunodeficiency caused by a variation in the ZNFX1 gene, characterized by severe infections by both RNA and DNA viruses and virally triggered inflammatory episodes with hemophagocytic lymphohistiocytosis-like disease, early-onset seizures, and renal and lung disease. https://github.com/monarch-initiative/mondo/issues/5261 IMD91 immunodeficiency, autosomal recessive, due to ZNFX1 deficiency: immunodeficiency 91 and hyperinflammation MONDO:0030492 SPGF59 spermatogenic failure 59 MONDO:0030493 SPGF60 spermatogenic failure 60 MONDO:0030498 An autosomal recessive primary immunodeficiency characterized by the onset of recurrent infections in infancy or early childhood. Infectious agents are broad, including bacterial, viral, fungal, and parasitic, including Cryptosporidium and Mycobacteria. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets. Hematopoietic stem cell transplantation may be curative. https://github.com/monarch-initiative/mondo/issues/5261 IMD92 immunodeficiency due to REL deficiency immunodeficiency 92 MONDO:0030500 LDS6 Loeys-Dietz syndrome 6 MONDO:0030502 A chromosomal disorder consisting of the presence of two chromosomes of the same type in addition to the normal diploid number. tetrasomy MONDO:0030503 PFIC7 cholestasis, progressive familial intrahepatic, 7, with or without hearing loss MONDO:0030505 PFIC8 cholestasis, progressive familial intrahepatic, 8 MONDO:0030506 ODG9 ovarian dysgenesis 9 MONDO:0030507 SPGF61 spermatogenic failure 61 MONDO:0030508 SPGF62 spermatogenic failure 62 MONDO:0030512 SPG85 spastic paraplegia 85, autosomal recessive MONDO:0030513 DYT33 dystonia 33 MONDO:0030514 HLD23 leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy MONDO:0030515 SPGF63 spermatogenic failure 63 MONDO:0030517 TTD8 trichothiodystrophy 8, nonphotosensitive MONDO:0030518 TTD9 trichothiodystrophy 9, nonphotosensitive MONDO:0030519 An autosomal recessive primary immunodeficiency characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells. Additional features include failure to thrive and skin involvement. The severity is variable: more severe cases may require hematopoietic stem cell transplantation, whereas others can be treated effectively with Ig replacement therapy. https://github.com/monarch-initiative/mondo/issues/5261 AGM9 agammaglobulinemia 9, autosomal recessive MONDO:0030522 SPGF64 spermatogenic failure 64 MONDO:0030523 OOMD12 oocyte maturation defect 12 MONDO:0030524 MPS10 mucopolysaccharidosis, type 10 MONDO:0030525 EBS2B epidermolysis bullosa simplex 2B, generalized intermediate MONDO:0030527 EBS2C epidermolysis bullosa simplex 2C, localized MONDO:0030528 An autosomal recessive disorder characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life. Immunologic workup typically shows decreased circulating B cells and hypo- or agammaglobulinemia, sometimes with neutropenia or T-cell lymphocytosis, although laboratory findings may be variable among patients. Ig replacement therapy is beneficial. Cardiac involvement can also include atrial septal defect, valvular insufficiency, and pre-excitation syndrome. Rare myopathic or neurologic involvement has been reported, but these features are not consistently part of the disorder and may be related to other genetic defects. https://github.com/monarch-initiative/mondo/issues/5261 IMD93 immunodeficiency and hypertrophic cardiomyopathy immunodeficiency 93 and hypertrophic cardiomyopathy MONDO:0030529 An agammaglobulinemia characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system. Laboratory studies show low or absent circulating B cells and hypo- or agammaglobulinemia. Affected individuals may have adverse reactions to certain vaccinations, such as the polio vaccine. Treatment with replacement Ig is effective; hematopoietic stem cell transplantation has also been reported. https://github.com/monarch-initiative/mondo/issues/5261 AGM10 agammaglobulinemia 10, autosomal dominant MONDO:0030531 SPGF65 spermatogenic failure 65 MONDO:0030533 MRT73 intellectual developmental disorder, autosomal recessive 73 MONDO:0030534 HH26 hypogonadotropic hypogonadism 26 with or without anosmia MONDO:0030535 EBS2D epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive MONDO:0030537 CCHS2 central hypoventilation syndrome, congenital, 2, and autonomic dysfunction central hypoventilation syndrome, congenital, 2, and autonomic dysfunction MONDO:0030538 DYT34 dystonia 34, myoclonic MONDO:0030539 CCHS3 central hypoventilation syndrome, congenital, 3 central hypoventilation syndrome, congenital, 3 MONDO:0030543 COXPD54 combined oxidative phosphorylation deficiency 54 MONDO:0030549 DFNA81 hearing loss, autosomal dominant 81 deafness, autosomal dominant 81 hearing loss, autosomal dominant 81 MONDO:0030553 AMD4 acromesomelic dysplasia 4 MONDO:0030602 An pneumonia caused by infection with Klebsiella. Klebsiella caused pneumonia pneumonia due to Klebsiella pneumoniae pneumonia due to Klebsiella pneumoniae (disorder) pneumonia caused by Klebsiella pneumoniae Klebsiella pneumonia MONDO:0030603 Infections with bacteria of the genus KLEBSIELLA. Klebsiella caused disease or disorder Klebsiella disease or disorder Klebsiella infection infection, Klebsiella infections, Klebsiella Klebsiella infectious disease MONDO:0030604 A variant of Wilms tumor of the kidney characterized by the presence of cystic spaces separated by septa. The septa contain immature epithelial cells, immature stromal cells, and blastema cells. Surgical resection is usually curative. cystic partially differentiated nephroblastoma malignant cystic nephroma malignant multilocular cystic nephroma cystic partially differentiated nephroblastoma MONDO:0030606 BRYLIB1 Bryant-Li-Bhoj neurodevelopmental syndrome 1 MONDO:0030607 BRYLIB2 Bryant-Li-Bhoj neurodevelopmental syndrome 2 MONDO:0030608 ILD1 interstitial lung disease 1 interstitial lung disease 1 MONDO:0030619 RP92 retinitis pigmentosa 92 retinitis pigmentosa 92 MONDO:0030625 DSKOR dyskinesia with orofacial involvement, autosomal recessive dyskinesia with orofacial involvement, autosomal recessive MONDO:0030634 HDLS2 leukoencephalopathy, hereditary diffuse, with spheroids 2 leukoencephalopathy, hereditary diffuse, with spheroids, swedish IIA leukoencephalopathy, hereditary diffuse, with spheroids 2 MONDO:0030639 Teebi hypertelorism syndrome MONDO:0030669 A severe autosomal recessive developmental disorder characterized by multiple intestinal atresia apparent soon after birth. Affected infants have a distended abdomen and do not pass meconium. There is some evidence of inflammatory bowel disease. Death occurs in the first weeks of life. Some patients may also have immunodeficiency. GIDID2 gastrointestinal defects and immunodeficiency syndrome 2 multiple intestinal atresia with or without leukopenia gastrointestinal defects and immunodeficiency syndrome 2 MONDO:0030673 SPG86 spastic paraplegia 86, autosomal recessive spastic paraplegia 86, autosomal recessive MONDO:0030674 TBHS2 Teebi hypertelorism syndrome 2 Teebi hypertelorism syndrome 2 MONDO:0030676 PKDYS3 parkinsonism-dystonia 3, childhood-onset parkinsonism-dystonia 3, childhood-onset MONDO:0030677 CMT1I Charcot-Marie-Tooth disease neuropathy, IIA 1I Charcot-Marie-Tooth disease, demyelinating, IIA 1I Charcot-Marie-Tooth disease, demyelinating, IIA 1I MONDO:0030679 NS14 Noonan syndrome 14 Noonan syndrome 14 MONDO:0030680 CMD2F cardiomyopathy, dilated, 2F cardiomyopathy, dilated, 2F MONDO:0030681 IMD94 immunodeficiency 94 with autoinflammation and dysmorphic facies immunodeficiency 94 with autoinflammation and dysmorphic facies MONDO:0030684 HH27 hypogonadotropic hypogonadism 27 without anosmia hypogonadotropic hypogonadism 27 without anosmia MONDO:0030689 CMT1H Charcot-Marie-Tooth disease, demyelinating, IIA 1H Charcot-Marie-Tooth neuropathy, IIA 1H hereditary motor and sensory neuropathy, 1h neuropathy, hereditary, with or without age-related macular degeneration Charcot-Marie-Tooth disease, demyelinating, IIA 1H MONDO:0030690 PFBMFT6 pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 MONDO:0030692 IMD95 immunodeficiency 95 immunodeficiency 95 MONDO:0030693 An autosomal recessive disorder characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood. Other infections, including gastrointestinal and urinary tract infections, may also occur. Laboratory studies show hypogammaglobulinemia, lymphopenia with increased gamma/delta T cells, and erythrocyte macrocytosis. The disorder results from defective cellular DNA repair. https://github.com/monarch-initiative/mondo/issues/5261 IMD96 immunodeficiency 96 immunodeficiency, autosomal recessive due to LIG1 deficiency immunodeficiency 96 MONDO:0030695 DEE100 developmental and epileptic encephalopathy 100 developmental and epileptic encephalopathy 100 MONDO:0030696 MTDPS20 mitochondrial DNA depletion syndrome 20 (mngie type) mitochondrial neurogastrointestinal encephalomyopathy syndrome, lig3-related mitochondrial DNA depletion syndrome 20 (mngie type) MONDO:0030697 MYP28 myopia 28, autosomal recessive myopia 28, autosomal recessive MONDO:0030700 An autoimmune form of glomerulonephritis (disease). autoimmune glomerulonephritis (disease) autoimmune glomerulonephritis MONDO:0030701 An autoimmune form of cardiomyopathy. autoimmune cardiomyopathy MONDO:0030702 An autoimmune form of atherosclerosis. autoimmune atherosclerosis MONDO:0030703 An autoimmune form of vasculitis. autoimmune vasculitis MONDO:0030705 Infection of the prostate gland caused by Trichomonas vaginalis. Trichomonas prostatitis Trichomonas vaginalis caused prostatitis (disease) Trichomonas vaginalis prostatitis (disease) trichomonal prostatitis Trichomonas prostatitis MONDO:0030706 An cystitis caused by infection with Trichomonas vaginalis. Trichomonas cystitis Trichomonas vaginalis caused cystitis Trichomonas vaginalis cystitis trichomonal cystitis cystitis in trichomoniasis Trichomonas cystitis MONDO:0030707 Trichomonas balanoposthitis Trichomonas balanoposthitis MONDO:0030708 An cervicitis (disease) caused by infection with Trichomonas vaginalis. Trichomonas cervicitis Trichomonas vaginalis caused cervicitis (disease) Trichomonas vaginalis cervicitis (disease) Trichomonas cervicitis MONDO:0030711 CDA, IIA IIIB CDAN3B anemia, congenital dyserythropoietic, IIA IIIB, autosomal recessive Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive MONDO:0030712 OPDM4 oculopharyngodistal myopathy 4 oculopharyngodistal myopathy 4 MONDO:0030714 OI22 osteogenesis imperfecta, IIA 22 osteogenesis imperfecta, IIA 22 MONDO:0030716 SPGF66 spermatogenic failure 66 spermatogenic failure 66 MONDO:0030717 An autosomal recessive complex immunologic disorder with variable features. Affected individuals present in the first decade of life with inflammatory interstitial lung disease or colitis due to abnormal tissue infiltration by activated T cells. Patients develop autoimmune cytopenias and may have lymphadenopathy; 1 reported patient had features of hemophagocytic lymphohistiocytosis (HLH). Some patients may have recurrent infections associated with mild lymphopenia, hypogammaglobulinemia, and NK cell dysfunction. Immunologic workup indicates signs of significant immune dysregulation with elevation of inflammatory serum markers, variable immune cell defects involving neutrophils, NK cells, and myeloid cells, and disrupted levels of T regulatory cells (Tregs). Two unrelated patients have been reported. https://github.com/monarch-initiative/mondo/issues/5261 IMD97 immunodeficiency 97 with autoinflammation immunodeficiency 97 with autoinflammation MONDO:0030718 SPGF67 spermatogenic failure 67 spermatogenic failure 67 MONDO:0030719 DFNA82 deafness, autosomal dominant 82 deafness, autosomal dominant 82 MONDO:0030720 An vulvovaginitis caused by infection with Trichomonas vaginalis. Trichomonas vaginalis caused vulvovaginitis Trichomonas vaginalis vulvovaginitis trichomonal vulvovaginitis leukorrhea vaginalis - trichomonal trichomonal leukorrhea trichomonal vulvovaginitis MONDO:0030721 SPGF68 spermatogenic failure 68 spermatogenic failure 68 MONDO:0030723 DFNA83 deafness, autosomal dominant 83 hearing loss, autosomal dominant 83 MONDO:0030724 DFNA84 deafness, autosomal dominant 84 hearing loss, autosomal dominant 84 MONDO:0030726 SCN9 neutropenia, severe congenital, 9, autosomal dominant neutropenia, severe congenital, 9, autosomal dominant MONDO:0030727 DEE101 developmental and epileptic encephalopathy 101 developmental and epileptic encephalopathy 101 MONDO:0030729 TEVANED1 Tessadori-van Haaften neurodevelopmental syndrome 1 Tessadori-van Haaften neurodevelopmental syndrome 1 MONDO:0030730 TEVANED2 Tessadori-van Haaften neurodevelopmental syndrome 2 Tessadori-van Haaften neurodevelopmental syndrome 2 MONDO:0030731 AAT12 aortic aneurysm, familial thoracic 12 aortic aneurysm, familial thoracic 12 MONDO:0030732 SPGF69 spermatogenic failure 69 spermatogenic failure 69 MONDO:0030733 SPGF70 spermatogenic failure 70 spermatogenic failure 70 MONDO:0030736 ODG10 ovarian dysgenesis 10 ovarian dysgenesis 10 MONDO:0030746 JEB2A epidermolysis bullosa, junctional 2A, generalized intermediate epidermolysis bullosa, junctional 2A, intermediate epidermolysis bullosa, junctional 2A, non-herlitz IIA epidermolysis bullosa, junctional 2A, intermediate MONDO:0030747 JEB2B epidermolysis bullosa, junctional 2B, generalized severe epidermolysis bullosa, junctional 2B, herlitz IIA epidermolysis bullosa, junctional 2B, severe epidermolysis bullosa, junctional 2B, severe MONDO:0030748 JEB3A epidermolysis bullosa, junctional 3A, generalized intermediate epidermolysis bullosa, junctional 3A, intermediate epidermolysis bullosa, junctional 3A, non-herlitz IIA epidermolysis bullosa, junctional 3A, intermediate MONDO:0030749 JEB3B epidermolysis bullosa, junctional 3B, generalized severe epidermolysis bullosa, junctional 3B, herlitz IIA epidermolysis bullosa, junctional 3B, severe epidermolysis bullosa, junctional 3B, severe MONDO:0030750 JEB4 epidermolysis bullosa, generalized atrophic benign epidermolysis bullosa, junctional 4, intermediate epidermolysis bullosa, junctional 4, non-herlitz IIA epidermolysis bullosa, junctional, localisata variant epidermolysis bullosa, junctional 4, intermediate MONDO:0030756 STWS2 Stuve-Wiedemann syndrome 2 Stuve-Wiedemann syndrome 2 MONDO:0030768 JEB5A epidermolysis bullosa, junctional 5A, generalized intermediate epidermolysis bullosa, junctional 5A, intermediate epidermolysis bullosa, junctional 5A, non-herlitz IIA epidermolysis bullosa, junctional 5A, intermediate MONDO:0030770 CDDG2 congenital disorder of deglycosylation 2 congenital disorder of deglycosylation 2 MONDO:0030781 RSDM2 restrictive dermopathy 2 restrictive dermopathy 2, lethal restrictive dermopathy 2 MONDO:0030785 MRT75 intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly MONDO:0030787 SPGF71 spermatogenic failure 71 spermatogenic failure 71 MONDO:0030796 leukoencephalopathy, hereditary diffuse, with spheroids MONDO:0030797 RP93 retinitis pigmentosa 93 retinitis pigmentosa 93 MONDO:0030798 An autosomal recessive immunologic disorder characterized by the onset of recurrent sinopulmonary infections in early childhood. Laboratory studies reveal hypogammaglobulinemia with decreased memory B cells that show impaired class-switch recombination (CSR) and decreased somatic hypermutation (SHM). Due to abnormal antibody production and impaired self-tolerance, patients may develop autoimmune cytopenias, such as thrombocytopenia, or autoimmune features, such as vitiligo. There are also defects in the T-cell compartment. https://github.com/monarch-initiative/mondo/issues/5261 IMD99 immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias MONDO:0030800 PFIC9 cholestasis, progressive familial intrahepatic, 9 cholestasis, progressive familial intrahepatic, 9 MONDO:0030801 M7MLS2 monosomy 7 myelodysplasia and leukemia syndrome 2 monosomy 7 myelodysplasia and leukemia syndrome 2 MONDO:0030805 SCA49 spinocerebellar ataxia 49 spinocerebellar ataxia 49 MONDO:0030809 SPGF72 spermatogenic failure 72 spermatogenic failure 72 MONDO:0030810 PFIC10 cholestasis, progressive familial intrahepatic, 10 cholestasis, progressive familial intrahepatic, 10 MONDO:0030813 IMD101 immunodeficiency 101 (varicella zoster virus-specific) immunodeficiency 101 (varicella zoster virus-specific) MONDO:0030815 PFIC11 cholestasis, progressive familial intrahepatic, 11 cholestasis, progressive familial intrahepatic, 11 MONDO:0030818 SPGF73 spermatogenic failure 73 spermatogenic failure 73 MONDO:0030819 MKS14 meckel syndrome 14 meckel syndrome 14 MONDO:0030822 RHDA4 renal hypodysplasia/aplasia 4 renal hypodysplasia/aplasia 4 MONDO:0030827 MACTHC2 macrothrombocytopenia, isolated, 2, autosomal dominant macrothrombocytopenia, isolated, 2, autosomal dominant MONDO:0030831 gastrointestinal defect and immunodeficiency syndrome MONDO:0030835 DIGFAN developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy MONDO:0030837 An autosomal dominant neurodevelopmental disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, including ataxia and spasticity, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. Dysmorphic facial features may also be observed. Most patients have early-onset seizures; some may develop a demyelinating peripheral neuropathy. The clinical features suggest involvement of both the central and peripheral nervous systems. https://github.com/monarch-initiative/mondo/issues/3680 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5167 NEDMILEG NEDMILEG, AD neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities MONDO:0030839 THMA2 thyroid hormone metabolism, abnormal, 2 thyroid hormone metabolism, abnormal, 2 MONDO:0030840 MMRCS2 mismatch repair cancer syndrome 2 mismatch repair cancer syndrome 2 MONDO:0030841 MMRCS3 mismatch repair cancer syndrome 3 mismatch repair cancer syndrome 3 MONDO:0030843 MMRCS4 mismatch repair cancer syndrome 4 mismatch repair cancer syndrome 4 MONDO:0030844 SPGF47 spermatogenic failure 47 spermatogenic failure 47 MONDO:0030846 SPGF48 spermatogenic failure 48 spermatogenic failure 48 MONDO:0030847 DA1C arthrogryposis, distal, type 1C arthrogryposis, distal, type 1C MONDO:0030849 IDDSAPN intellectual developmental disorder with speech delay and axonal peripheral neuropathy MONDO:0030852 https://github.com/monarch-initiative/mondo/issues/3680 https://github.com/monarch-initiative/mondo/issues/4521 NEDFASB neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities MONDO:0030854 OIEDS Syndrome 1 OIEDS1 combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 MONDO:0030855 OIEDS Syndrome 2 OIEDS2 combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 MONDO:0030856 DEE89 developmental and epileptic encephalopathy 89 developmental and epileptic encephalopathy 89 MONDO:0030858 IMD75 immunodeficiency 75 immunodeficiency 75 MONDO:0030859 COACH2 COACH syndrome 2 MONDO:0030860 Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the BSCL2 gene. DHMN5C HMN5C neuropathy, distal hereditary motor, type VC spinal muscular atrophy, distal, type 5C neuronopathy, distal hereditary motor, type 5C MONDO:0030861 https://github.com/monarch-initiative/mondo/issues/4521 OI21 osteogenesis imperfecta 21 osteogenesis imperfecta, TYPE XXI osteogenesis imperfecta, type 21 MONDO:0030862 COACH3 COACH syndrome 3 MONDO:0030864 RTSC3 Ritscher-Schinzel syndrome 3 Ritscher-Schinzel syndrome 3 MONDO:0030866 https://github.com/monarch-initiative/mondo/issues/3680 NEDCASB neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities MONDO:0030867 THC7 Thrombocytopenia, Autosomal Dominant, 7 thrombocytopenia 7 thrombocytopenia 7 MONDO:0030868 SPGF49 spermatogenic failure 49 spermatogenic failure 49 MONDO:0030869 https://github.com/monarch-initiative/mondo/issues/4521 spermatogenic failure SPGF50 spermatogenic failures 50 spermatogenic failures 50 MONDO:0030870 POF17 premature ovarian failure 17 premature ovarian failure 17 MONDO:0030871 VHO vertebral hypersegmentation and orofacial anomalies MONDO:0030872 FTDALS8 frontotemporal dementia and/or amyotrophic lateral sclerosis 8 frontotemporal dementia and/or amyotrophic lateral sclerosis 8 MONDO:0030873 CFNDS cardiofacioneurodevelopmental syndrome MONDO:0030875 FTDALS5 frontotemporal dementia and/or amyotrophic lateral sclerosis 5 frontotemporal dementia and/or amyotrophic lateral sclerosis 5 MONDO:0030876 CAFD1 cardioacrofacial dysplasia 1 cardioacrofacial dysplasia 1 MONDO:0030877 https://github.com/monarch-initiative/mondo/issues/4521 CAFD2 cardioacrofacial dysplasia 2 cardioacrofacial dysplasia 2, autosomal dominant, somatic mosaicism cardioacrofacial dysplasia 2 MONDO:0030878 KABAMAS Kaya-Barakat-Masson syndrome MONDO:0030880 MDPS mandibuloacral dysplasia progeroid syndrome MONDO:0030881 DEE102 developmental and epileptic encephalopathy 102 developmental and epileptic encephalopathy 102 MONDO:0030883 CTS2 carpal tunnel syndrome 2 carpal tunnel syndrome 2 MONDO:0030885 ALS26 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia MONDO:0030886 HPE14 holoprosencephaly 14 holoprosencephaly 14 MONDO:0030887 CMD2G cardiomyopathy, dilated, 2G cardiomyopathy, dilated, 2G MONDO:0030890 PCH17 pontocerebellar hypoplasia, IIA 17 pontocerebellar hypoplasia, IIA 17 MONDO:0030891 MRD66 intellectual developmental disorder, autosomal dominant 66 mental retardation, autosomal dominant 66 intellectual developmental disorder, autosomal dominant 66 MONDO:0030893 LEPID leukoencephalopathy, progressive, infantile-onset, with or without deafness MONDO:0030894 AMED syndrome, digenic AMEDS AMeD syndrome aplastic anemia-intellectual disability-dwarfism syndrome bone marrow failure syndrome 7, digenic AMED syndrome, digenic MONDO:0030895 NPHS22 nephrotic syndrome, type 22 nephrotic syndrome, type 22 MONDO:0030896 chromosome 13q33-q34 deletion syndrome MONDO:0030897 LESKRES Lessel-Kreienkamp syndrome MONDO:0030898 An autosomal recessive primary immunologic disorder characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show T-cell lymphopenia and may show variable B-cell or immunoglobulin abnormalities. More variable features found in some patients include lymphoma and neurologic features. Although bone marrow transplantation may be curative, many patients die in childhood. https://github.com/monarch-initiative/mondo/issues/5261 IMD76 immunodeficiency 76 immunodeficiency due to FCHO1 deficiency immunodeficiency 76 MONDO:0030899 https://github.com/monarch-initiative/mondo/issues/4521 OCA8 oculocutaneous albinism, type 8 oculocutaneous albinism, type VIII oculocutaneous albinism type 8 MONDO:0030900 IDDPADS intellectual developmental disorder with paroxysmal dyskinesia or seizures MONDO:0030902 https://github.com/monarch-initiative/mondo/issues/4521 MC1DN36 mitochondrial complex 1 deficiency, nuclear type 36 mitochondrial complex I deficiency, nuclear type 36 mitochondrial complex 1 deficiency, nuclear type 36 MONDO:0030903 Hermansky-Pudlak syndrome HPS11 Hermansky-Pudlak syndrome 11 MONDO:0030905 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB117 deafness, autosomal recessive 117 hearing loss, autosomal recessive 117 MONDO:0030906 An disease or disorder caused by infection with Trichomonas tenax. Trichomonas tenax caused disease or disorder Trichomonas tenax disease or disorder Trichomonas tenax trichomoniasis Trichomonas tenax infectious disease MONDO:0030907 https://github.com/monarch-initiative/mondo/issues/4521 intellectual developmental disorder, X-linked 106, X-linked recessive intellectual disability, X-linked 106 MRX106 X-linked intellectual disability 106 X-linked mental retardation 106 mental retardation, X-linked 106 intellectual disability, X-linked 106 MONDO:0030908 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 intellectual developmental disorder, X-linked, syndromic, 35, X-linked recessive intellectual disability, X-linked, syndromic, 35 MRXS35 mental retardation, X-linked, syndromic, 35 syndromic X-linked intellectual disability 35 syndromic X-linked mental retardation 35 intellectual disability, X-linked, syndromic, 35 MONDO:0030909 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 intellectual developmental disorder, X-linked, syndromic, Houge type intellectual disability, X-linked, syndromic, Houge type MRXSHG intellectual disability, X-linked, syndromic, HOUGE type mental retardation, X-linked, syndromic, HOUGE type mental retardation, X-linked, syndromic, Houge type syndromic X-linked intellectual disability Hough type syndromic X-linked mental retardation Hough type intellectual disability, X-linked, syndromic, Houge type MONDO:0030910 intellectual disability, autosomal dominant 45 MRD45 autosomal dominant intellectual disability 45 autosomal dominant mental retardation 45 mental retardation, autosomal dominant 45 intellectual disability, autosomal dominant 45 MONDO:0030911 intellectual disability, autosomal dominant 46 MRD46 autosomal dominant intellectual disability 46 autosomal dominant mental retardation 46 mental retardation, autosomal dominant 46 intellectual disability, autosomal dominant 46 MONDO:0030912 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome intellectual disability, autosomal dominant 47 MRD47 autosomal dominant intellectual disability 47 autosomal dominant mental retardation 47 mental retardation, autosomal dominant 47 intellectual disability, autosomal dominant 47 MONDO:0030913 https://github.com/monarch-initiative/mondo/issues/5588 intellectual disability, autosomal dominant 48 MRD48 autosomal dominant intellectual disability 48 autosomal dominant mental retardation 48 mental retardation, autosomal dominant 48 microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom intellectual disability, autosomal dominant 48 MONDO:0030914 Clark-Baraitser syndrome MRD49 intellectual disability, autosomal dominant 49 Baraitser syndrome autosomal dominant intellectual disability 49 autosomal dominant mental retardation 49 intellectual disability, tall stature, obesity, macrocephaly and typical facial features mental retardation, autosomal dominant 49 mental retardation, tall stature, obesity, macrocephaly and typical facial features Clark-Baraitser syndrome https://rarediseases.info.nih.gov/diseases/9994/clark-baraitser-syndrome MONDO:0030915 An autosomal recessive non-syndromic intellectual disability that has material basis in an autosomal recessive mutation of the RUSC2 gene on chromosome 9p13. intellectual disability, autosomal recessive 61 Alwadei syndrome MRT61 autosomal recessive intellectual disability 61 autosomal recessive mental retardation 61 mental retardation, autosomal recessive 61 intellectual disability, autosomal recessive 61 MONDO:0030916 https://github.com/monarch-initiative/mondo/issues/4521 intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities intellectual disability, autosomal dominant 50 MRD50 autosomal dominant intellectual disability 50 autosomal dominant mental retardation 50 mental retardation, autosomal dominant 50 intellectual disability, autosomal dominant 50 MONDO:0030917 intellectual disability, autosomal dominant 51 MRD51 autosomal dominant intellectual disability 51 autosomal dominant mental retardation 51 mental retardation, autosomal dominant 51 intellectual disability, autosomal dominant 51 MONDO:0030918 intellectual disability, autosomal dominant 52 MRD52 autosomal dominant intellectual disability 52 autosomal dominant mental retardation 52 mental retardation, autosomal dominant 52 intellectual disability, autosomal dominant 52 MONDO:0030919 intellectual disability, autosomal dominant 53 MRD53 autosomal dominant intellectual disability 53 autosomal dominant mental retardation 53 mental retardation, autosomal dominant 53 intellectual disability, autosomal dominant 53 MONDO:0030920 intellectual disability, autosomal dominant 54 MRD54 autosomal dominant intellectual disability 54 autosomal dominant mental retardation 54 mental retardation, autosomal dominant 54 intellectual disability, autosomal dominant 54 MONDO:0030921 intellectual disability, autosomal dominant 55, with seizures MRD55 autosomal dominant intellectual disability 55 autosomal dominant mental retardation 55 mental retardation, autosomal dominant 55, with seizures intellectual disability, autosomal dominant 55, with seizures MONDO:0030922 intellectual disability, autosomal dominant 56 MRD56 autosomal dominant intellectual disability 56 autosomal dominant mental retardation 56 mental retardation, autosomal dominant 56 intellectual disability, autosomal dominant 56 MONDO:0030923 https://orcid.org/0000-0001-5208-3432 frontotemporal dementia and/or amyotrophic lateral sclerosis MONDO:0030924 PRAAS5 proteasome-associated autoinflammatory syndrome 5 proteasome-associated autoinflammatory syndrome 5 MONDO:0030925 OOMD10 oocyte maturation defect 10 oocyte maturation defect 10 MONDO:0030926 SPGF51 spermatogenic failure 51 spermatogenic failure 51 MONDO:0030927 MFM11 myofibrillar myopathy 11 myopathy, congenital, with eccentric cores myofibrillar myopathy 11 MONDO:0030928 https://github.com/monarch-initiative/mondo/issues/3738 MCPH26 microcephaly 26, primary, autosomal dominant microcephaly 26, primary, autosomal dominant MONDO:0030929 https://github.com/monarch-initiative/mondo/issues/3738 MCPH27 microcephaly 27, primary, autosomal dominant microcephaly 27, primary, autosomal dominant MONDO:0030930 https://github.com/monarch-initiative/mondo/issues/3680 NEDEGE neurodevelopmental disorder with or without early-onset generalized epilepsy MONDO:0030931 PRAAS4 proteasome-associated autoinflammatory syndrome 4 proteasome-associated autoinflammatory syndrome 4 MONDO:0030933 JBTS37 Joubert syndrome 37 Joubert syndrome 37 MONDO:0030934 MRD64 intellectual developmental disorder, autosomal dominant 64 mental retardation, autosomal dominant 64 intellectual developmental disorder, autosomal dominant 64 MONDO:0030935 https://github.com/monarch-initiative/mondo/issues/4521 MC2DN2 mitochondrial complex 2 deficiency, nuclear type 2 mitochondrial complex II deficiency, nuclear type 2 mitochondrial complex 2 deficiency, nuclear type 2 MONDO:0030936 EPM12 epilepsy, progressive myoclonic, 12 epilepsy, progressive myoclonic, 12 MONDO:0030937 https://github.com/monarch-initiative/mondo/issues/4521 MC2DN3 mitochondrial complex 2 deficiency, nuclear type 3 mitochondrial complex II deficiency, nuclear type 3 mitochondrial complex 2 deficiency, nuclear type 3 MONDO:0030938 SPGF52 spermatogenic failure 52 spermatogenic failure 52 MONDO:0030939 POF18 premature ovarian failure 18 premature ovarian failure 18 MONDO:0030941 EKVP7 erythrokeratodermia variabilis et progressiva 7 erythrokeratodermia variabilis et progressiva 7 MONDO:0030947 https://github.com/monarch-initiative/mondo/issues/4521 CONRIBA neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities MONDO:0030953 https://github.com/monarch-initiative/mondo/issues/4521 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies SSFSC2 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 MONDO:0030957 DEE103 developmental and epileptic encephalopathy 103 developmental and epileptic encephalopathy 103 MONDO:0030958 DYT35 dystonia 35, childhood-onset dystonia 35, childhood-onset MONDO:0030961 OLMS2 Olmsted syndrome 2 palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 2 Olmsted syndrome 2 MONDO:0030962 NPHS23 nephrotic syndrome, type 23 nephrotic syndrome, type 23 MONDO:0030963 LICAS Li-Campeau syndrome MONDO:0030964 MRD67 intellectual developmental disorder, autosomal dominant 67 mental retardation, autosomal dominant 67 intellectual developmental disorder, autosomal dominant 67 MONDO:0030966 NFSRA Neurodevelopmental Disorder With Corpus Callosum Agenesis, Craniofacial Dysmorphism, and Skeletal Anomalies, With or Without Renal Agenesis neurofacioskeletal syndrome with or without renal agenesis MONDO:0030967 DEAPLE deafness, congenital, and adult-onset progressive leukoencephalopathy MONDO:0030968 MRT76 intellectual developmental disorder, autosomal recessive 76 mental retardation, autosomal recessive 76 intellectual developmental disorder, autosomal recessive 76 MONDO:0030969 MRD68 intellectual developmental disorder, autosomal dominant 68 mental retardation, autosomal dominant 68 intellectual developmental disorder, autosomal dominant 68 MONDO:0030970 IFNAR1 deficiency IMD106 immunodeficiency 106, susceptibility to viral infections immunodeficiency 106, susceptibility to viral infections MONDO:0030971 IMD78 TPP2 deficiency immunodeficiency 78 with autoimmunity and developmental delay immunodeficiency 78 with autoimmunity and developmental delay MONDO:0030972 SPGF74 spermatogenic failure 74 spermatogenic failure 74 MONDO:0030973 IMD77 immunodeficiency 77 immunodeficiency 77 MONDO:0030974 https://github.com/monarch-initiative/mondo/issues/4521 MC2DN4 mitochondrial complex 2 deficiency, nuclear type 4 mitochondrial complex II deficiency, nuclear type 4 mitochondrial complex 2 deficiency, nuclear type 4 MONDO:0030975 POF20 premature ovarian failure 20 premature ovarian failure 20 MONDO:0030976 OCABSN oculomotor-abducens synkinesis MONDO:0030977 HMNMYO neuropathy, hereditary motor, with myopathic features MONDO:0030978 ENDOVESL Mesomelia of Lower Extremities With Hand and Foot Anomalies endove syndrome, limb-only type MONDO:0030979 ENDOVESLB Mesomelia of Lower Extremities With Hand, Foot, and Brain Anomalies endove syndrome, limb-brain type MONDO:0030981 https://github.com/monarch-initiative/mondo/issues/5062 CD4 Deficiency IMD79 immunodeficiency 79 immunodeficiency 79 https://rarediseases.info.nih.gov/diseases/9523/cd4-deficiency MONDO:0030982 SQORD sulfide:quinone oxidoreductase deficiency sulfide quinone oxidoreductase deficiency MONDO:0030983 WS2F Waardenburg syndrome, IIa 2F Waardenburg syndrome, IIa 2F MONDO:0030984 SPGF75 spermatogenic failure 75 spermatogenic failure 75 MONDO:0030985 POF19 premature ovarian failure 19 premature ovarian failure 19 MONDO:0030986 ABOLM blistering, acantholytic, of oral and laryngeal mucosa MONDO:0030987 VCTERL VCTERL syndrome vertebral, cardiac, tracheoesophageal, renal, and limb defects MONDO:0030988 DEFDA developmental delay with dysmorphic facies and dental anomalies MONDO:0030989 SPGF53 spermatogenic failure 53 spermatogenic failure 53 MONDO:0030990 KTZSL Kohlschutter-Tonz syndrome-like MONDO:0030991 BACD1 bile acid conjugation defect 1 MONDO:0030992 SOFM short stature, oligodontia, dysmorphic facies, and motor delay MONDO:0030993 TEVANED3 Tessadori-Van Haaften neurodevelopmental syndrome 3 Tessadori-Van Haaften neurodevelopmental syndrome 3 MONDO:0030994 https://github.com/monarch-initiative/mondo/issues/3680 NEDAUS neurodevelopmental disorder with or without autism or seizures neurodevelopmental disorder with or without autism or seizures MONDO:0030995 GDSBA global developmental delay with speech and behavioral abnormalities MONDO:0030996 https://github.com/monarch-initiative/mondo/issues/4521 BDPLT24 Glanzmann Thrombasthenia-Like With Macrothrombocytopenia 2 bleeding disorder, platelet-type, 24 bleeding disorder, platelet-type, 24, autosomal dominant bleeding disorder, platelet-type, 24 MONDO:0030997 https://github.com/monarch-initiative/mondo/issues/4521 MC1DN37 mitochondrial complex 1 deficiency, nuclear type 37 mitochondrial complex I deficiency, nuclear type 37 mitochondrial complex 1 deficiency, nuclear type 37 MONDO:0030998 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA80 deafness, autosomal dominant 80 hearing loss, autosomal dominant 80 MONDO:0030999 https://github.com/monarch-initiative/mondo/issues/3680 NEDCAFD neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism MONDO:0031000 TEVANED4 Tessadori-Van Haaften neurodevelopmental syndrome 4 Tessadori-Van Haaften neurodevelopmental syndrome 4 MONDO:0031001 VPED vitreoretinopathy with phalangeal epiphyseal dysplasia MONDO:0031002 BARMACS neurodevelopmental disorder with cataracts and variable microcephaly Baralle-Macken syndrome MONDO:0031003 https://github.com/monarch-initiative/mondo/issues/4521 FHCA2 NTCP Deficiency hypercholanemia, familial 2 hypercholanemia, familial, 2 MONDO:0031006 NDAXOA neurodegeneration with ataxia and late-onset optic atrophy MONDO:0031007 https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4937 SHILCA SHILCA syndrome spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis MONDO:0031008 NPHS24 idiopathic SRNS idiopathic steroid-resistant nephrotic syndrome nephrotic syndrome, type 24 MONDO:0031009 GT2 Glanzmann thrombasthenia 2 bleeding disorder, platelet-type, 23 Glanzmann thrombasthenia 2 MONDO:0031010 https://github.com/monarch-initiative/mondo/issues/4521 ODCD2 ondontochondrodysplasia 2 with hearing loss and diabetes odontochondrodysplasia 2 with hearing loss and diabetes MONDO:0031011 https://github.com/monarch-initiative/mondo/issues/3680 NEDDFAS neurodevelopmental disorder with dysmorphic facies and variable seizures MONDO:0031012 An autoimmune form of uveitis (disease). autoimmune uveitis (disease) autoimmune uveitis MONDO:0031013 An autoimmune form of optic neuritis. autoimmune optic neuritis MONDO:0031014 Inflammation of the body fundic mucosa of the stomach. It results from the development of autoantibodies against the parietal and chief cells. It is associated with the presence of intestinal metaplasia and an increased risk of developing gastric carcinoma. autoimmune gastritis (disease) autoimmune gastritis MONDO:0031019 SPG87 spastic paraplegia 87, autosomal recessive spastic paraplegia 87, autosomal recessive MONDO:0031021 DEE104 developmental and epileptic encephalopathy 104 developmental and epileptic encephalopathy 104 MONDO:0031028 DEE105 developmental and epileptic encephalopathy 105 with hypopituitarism developmental and epileptic encephalopathy 105 with hypopituitarism MONDO:0031030 IMD107 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection MONDO:0031031 MRT77 intellectual developmental disorder, autosomal recessive 77 intellectual developmental disorder, autosomal recessive 77 MONDO:0031037 A rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages. familial brain cavernous angioma familial brain cavernous hemangioma familial cerebral cavernoma familial cerebral cavernous malformation famililal cerebral cavernous malformations hereditary brain cavernous angioma hereditary brain cavernous hemangioma hereditary cerebral cavernoma hereditary cerebral cavernous malformation CCM cavernous angioma, familial cavernous angiomatous malformations cavernous malformations of CNS and retina cerebral capillary malformations cerebral cavernous malformations hyperkeratotic cutaneous capillary-Venous malformations associated with cerebral capillary malformations famililal cerebral cavernous malformations MONDO:0031040 PFIC12 cholestasis, isolated low-ggt cholestasis, progressive familial intrahepatic, 12 cholestasis, progressive familial intrahepatic, 12 MONDO:0031043 LMPHM12 central conducting lymphatic anomaly lymphatic malformation 12 lymphatic malformation 12 MONDO:0031044 FASPS4 advance sleep phase syndrome, familial, 4 advance sleep phase syndrome, familial, 4 MONDO:0031045 DA11 arthrogryposis, distal, IIa 11 arthrogryposis, distal, IIa 11 MONDO:0031047 STL6 stickler syndrome, IIa 6 stickler syndrome, IIa 6 MONDO:0031052 DEE106 developmental and epileptic encephalopathy 106 developmental and epileptic encephalopathy 106 MONDO:0031054 CILD48 ciliary dyskinesia, primary, 48, without situs inversus ciliary dyskinesia, primary, 48, without situs inversus MONDO:0031055 DEE107 developmental and epileptic encephalopathy 107 developmental and epileptic encephalopathy 107 MONDO:0031057 DKCD dyskeratosis congenita, digenic dyskeratosis congenita, digenic MONDO:0031060 MCPH29 microcephaly 29, primary, autosomal recessive microcephaly 29, primary, autosomal recessive MONDO:0031061 NPHS26 nephrotic syndrome, IIa 26 nephrotic syndrome, IIa 26 MONDO:0031062 PKD7 polycystic kidney disease 7 polycystic kidney disease 7 MONDO:0031068 CMT2II charcot-marie-tooth disease, axonal, IIa 2II charcot-marie-tooth neuropathy, IIa 2II charcot-marie-tooth disease, axonal,IIa 2II MONDO:0031071 DBA21 diamond-blackfan anemia 21 diamond-blackfan anemia 21 MONDO:0031077 SPGF76 spermatogenic failure 76 spermatogenic failure 76 MONDO:0031083 SPGF77 spermatogenic failure 77 spermatogenic failure 77 MONDO:0031084 AI1K amelogenesis imperfecta, IIa 1K amelogenesis imperfecta, hypoplastic IIa 1K amelogenesis imperfecta, IIa 1K MONDO:0031115 dyskinesia with orofacial involvement MONDO:0031166 macular dystrophy, retinal MONDO:0031169 odontochondrodysplasia MONDO:0031178 https://github.com/monarch-initiative/mondo/issues/5923 2023-05-01 Reason: duplicate. This will be merged with MONDO:0044645 familial monosomy 7 syndrome monosomy 7 myelodysplasia and leukemia syndrome MONDO:0031199 inherited interstitial lung disease MONDO:0031200 Bryant-Li-Bhoj neurodevelopmental syndrome MONDO:0031213 restrictive dermopathy MONDO:0031219 mismatch repair cancer syndrome MONDO:0031230 https://orcid.org/0000-0001-5208-3432 mitochondrial complex II deficiency, nuclear type MONDO:0031240 familial panic disorder MONDO:0031257 A rare pulmonary condition characterized by non-cardiogenic pulmonary edema occurring in otherwise healthy individuals within days of an ascent above 2500-3000 m. Early symptoms include exertional dyspnea, non-productive cough, chest tightness, and reduced exercise performance, followed by dyspnea at rest and possibly orthopnea, as well as gurgling in the chest and pink frothy sputum in advanced cases. Clinical signs are cyanosis, tachypnea, tachycardia, crackles or wheezing, and elevated body temperature (generally not exceeding 38.5°C). Signs of concomitant high-altitude cerebral edema may also be observed. Chest x-rays typically show patchy opacities predominantly in the right middle lobe. high altitude pulmonary edema MONDO:0031280 Stuve-Wiedemann syndrome MONDO:0031322 A craniofacial malformation with prosencephalic duplication; the presence of three eyes. https://github.com/monarch-initiative/mondo/issues/4788 The definition is based on a single case report [PMID:7548108]. triopia MONDO:0031323 cardiac valvular defect MONDO:0031329 https://github.com/monarch-initiative/mondo/issues/5619 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome MONDO:0031332 A bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia Glanzmann thrombasthenia Glanzmann's thrombasthenia BDPLT2 Glanzmann thrombasthenia 1 Thrombocytasthenia deficiency of GP IIb-IIIa complex deficiency of glycoprotein complex IIb-IIIa deficiency of platelet fibrinogen receptor glycoprotein IIb/IIIa defect platelet glycoprotein IIb-IIIa deficiency platelet-type bleeding disorder 2 thrombasthenia thrombasthenia of Glanzmann and Naegeli Diacyclothrombopathia 2B 3A GP IIb-IIIa Complex, deficiency of GT Glanzmann thrombasthenia type A Platelet fibrinogen receptor, deficiency of Platelet glycoprotein 2B 3A deficiency Platelet glycoprotein IIb-IIIa deficiency bleeding disorder, Platelet-type, 2 deficiency of GP 2B 3A complex glycoprotein Complex IIb-IIIa, deficiency of Glanzmann thrombasthenia 1 MONDO:0031376 congenital disorder of deglycosylation MONDO:0031384 autoinflammatory syndrome, familial, Behcet-like MONDO:0031386 cardioacrofacial dysplasia MONDO:0031400 Tessadori-Van-Haaften neurodevelopmental syndrome MONDO:0031415 https://github.com/monarch-initiative/mondo/issues/5619 Carey-Fineman-Ziter syndrome MONDO:0031421 https://orcid.org/0000-0001-5208-3432 Olmsted syndrome MONDO:0031422 familial mucolipidosis MONDO:0031432 thyroid hormone metabolism, abnormal MONDO:0031439 https://orcid.org/0000-0001-5208-3432 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies MONDO:0031446 A very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent. hereditary hypercholanemia FHCA1 hypercholanemia, familial 1 MONDO:0031447 macrothrombocytopenia, isolated MONDO:0031481 https://github.com/monarch-initiative/mondo/issues/4521 microcephaly, epilepsy, and diabetes syndrome MEDS1 primary microcephaly-epilepsy-permanent neonatal diabetes syndrome microcephaly, epilepsy, and diabetes syndrome 1 MONDO:0031520 familial severe combined immunodeficiency MONDO:0031615 familial bent bone dysplasia syndrome MONDO:0031632 https://github.com/monarch-initiative/mondo/issues/5619 developmental delay with short stature, dysmorphic facial features, and sparse hair MONDO:0031646 Braddock-Carey syndrome MONDO:0032485 INTELLECTUAL DEVELOPMENTAL DISORDER 61 MRD61 Mental Retardation, Autosomal Dominant 61 intellectual developmental disorder 61 MONDO:0032526 SCA48 SPINOCEREBELLAR ATAXIA 48 spinocerebellar ataxia 48 MONDO:0032564 HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3 HKLLS3 hennekam lymphangiectasia-lymphedema syndrome 3 MONDO:0032565 EORVA OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES ophthalmoplegia, external, with rib and vertebral anomalies MONDO:0032566 SQSD SQUALENE SYNTHASE DEFICIENCY neurodevelopmental disorder with low cholesterol and abnormal urine organic acids squalene synthase deficiency MONDO:0032567 https://github.com/monarch-initiative/mondo/issues/4521 growth hormone deficiency, isolated, type IV Dwarfism of Sindh IGHD4 ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV Isolated Growth Hormone Deficiency, Type Ib Isolated Growth Hormone Deficiency, Type Ib, Formerly isolated growth hormone deficiency, type 4 MONDO:0032568 IDDMSSD INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY intellectual developmental disorder with macrocephaly, seizures, and speech delay MONDO:0032569 https://github.com/monarch-initiative/mondo/issues/4521 pituitary hormone deficiency, combined or isolated, 7 IGHD5 ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V isolated growth hormone deficiency, type 5 MONDO:0032570 JBTS35 JOUBERT SYNDROME 35 Joubert syndrome 35 MONDO:0032571 https://github.com/monarch-initiative/mondo/issues/5280 Immunoosseous Dysplasia, Krakow Type SEMDK SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE spondyloepimetaphyseal dysplasia, Krakow type MONDO:0032572 CAFDADD CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY cardiac, facial, and digital anomalies with developmental delay MONDO:0032573 BMFS5 BONE MARROW FAILURE SYNDROME 5 bone marrow failure syndrome 5 MONDO:0032574 OCBMD OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS osteochondrodysplasia, brachydactyly, and overlapping malformed digits MONDO:0032575 DIAR9 DIARRHEA 9 diarrhea 9 MONDO:0032577 RETINITIS PIGMENTOSA 83 RP83 retinitis pigmentosa 83 MONDO:0032578 CDCBM9 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 cortical dysplasia, complex, with other brain malformations 9 MONDO:0032579 WARBURG-CINOTTI SYNDROME WRCN warburg-cinotti syndrome MONDO:0032580 NEPHROTIC SYNDROME, TYPE 17 NPHS17 nephrotic syndrome, type 17 MONDO:0032581 NEPHROTIC SYNDROME, TYPE 18 NPHS18 nephrotic syndrome, type 18 MONDO:0032582 NEPHROTIC SYNDROME, TYPE 19 NPHS19 nephrotic syndrome, type 19 MONDO:0032583 MCPH24 MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE microcephaly 24, primary, autosomal recessive MONDO:0032584 ECTD14 ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis MONDO:0032586 DIAR10 DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE diarrhea 10, protein-losing enteropathy type MONDO:0032588 PERIVENTRICULAR NODULAR HETEROTOPIA 8 PVNH8 periventricular nodular heterotopia 8 MONDO:0032590 ODG8 OVARIAN DYSGENESIS 8 ovarian dysgenesis 8 MONDO:0032591 https://github.com/monarch-initiative/mondo/issues/4948 HRPTTN hyperparathyroidism, transient neonatal hyperparathyroidism, transient neonatal MONDO:0032592 CARDIOMYOPATHY, DILATED, 2C CMD2C cardiomyopathy, dilated, 2c MONDO:0032594 IDDRP INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA intellectual developmental disorder and retinitis pigmentosa; IDDRP MONDO:0032596 https://github.com/monarch-initiative/mondo/issues/4069 CMS23 MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC myasthenic syndrome, congenital, 23, presynaptic MONDO:0032597 https://github.com/monarch-initiative/mondo/issues/4069 CMS24 MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC myasthenic syndrome, congenital, 24, presynaptic MONDO:0032598 https://github.com/monarch-initiative/mondo/issues/4521 DEE68 EIEE68 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 developmental and epileptic encephalopathy 68 epileptic encephalopathy, early infantile, 68 developmental and epileptic encephalopathy, 68 MONDO:0032599 IMD15A IMMUNODEFICIENCY 15A immunodeficiency 15a MONDO:0032600 intellectual developmental disorder with macrocephaly, speech delay, and dysmorphic facies SNIBCPS SNIJDERS BLOK-CAMPEAU SYNDROME Snijders Blok-Campeau syndrome MONDO:0032601 IBDIMDE INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY inflammatory bowel disease, immunodeficiency, and encephalopathy MONDO:0032603 PAPA9 POLYDACTYLY, POSTAXIAL, TYPE A9 polydactyly, postaxial, type A9 MONDO:0032604 RETINITIS PIGMENTOSA 84 RP84 retinitis pigmentosa 84 MONDO:0032605 https://github.com/monarch-initiative/mondo/issues/4521 intellectual developmental disorder, autosomal recessive 66 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66 MRT66 intellectual disability, autosomal recessive 66 MONDO:0032606 MC1DN2 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 mitochondrial complex 1 deficiency, nuclear type 2 MONDO:0032607 VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION VETD vertebral anomalies and variable endocrine and T-cell dysfunction MONDO:0032608 MC1DN3 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 mitochondrial complex 1 deficiency, nuclear type 3 MONDO:0032609 MC1DN4 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 mitochondrial complex 1 deficiency, nuclear type 4 MONDO:0032610 MC1DN5 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 mitochondrial complex 1 deficiency, nuclear type 5 MONDO:0032611 MC1DN6 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6 mitochondrial complex 1 deficiency, nuclear type 6 MONDO:0032612 MC1DN7 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 mitochondrial complex 1 deficiency, nuclear type 7 MONDO:0032613 MC1DN8 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 mitochondrial complex 1 deficiency, nuclear type 8 MONDO:0032614 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 epidermodysplasia verruciformis 2 EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2 EV2 epidermodysplasia verruciformis, susceptibility to, 2 MONDO:0032615 MC1DN9 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 mitochondrial complex 1 deficiency, nuclear type 9 MONDO:0032616 MC1DN10 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 mitochondrial complex 1 deficiency, nuclear type 10 MONDO:0032617 MC1DN11 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 mitochondrial complex 1 deficiency, nuclear type 11 MONDO:0032618 MC1DN13 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13 mitochondrial complex 1 deficiency, nuclear type 13 MONDO:0032619 MC1DN14 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 mitochondrial complex 1 deficiency, nuclear type 14 MONDO:0032620 MC1DN15 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 mitochondrial complex 1 deficiency, nuclear type 15 MONDO:0032621 MC1DN16 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 mitochondrial complex 1 deficiency, nuclear type 16 MONDO:0032622 MC1DN17 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 mitochondrial complex 1 deficiency, nuclear type 17 MONDO:0032623 MC1DN18 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 mitochondrial complex 1 deficiency, nuclear type 18 MONDO:0032624 MC1DN19 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 mitochondrial complex 1 deficiency, nuclear type 19 MONDO:0032625 MC1DN21 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 mitochondrial complex 1 deficiency, nuclear type 21 MONDO:0032626 MC1DN22 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 mitochondrial complex 1 deficiency, nuclear type 22 MONDO:0032627 MC1DN23 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23 mitochondrial complex 1 deficiency, nuclear type 23 MONDO:0032628 MC1DN24 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24 mitochondrial complex 1 deficiency, nuclear type 24 MONDO:0032629 MC1DN25 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 mitochondrial complex 1 deficiency, nuclear type 25 MONDO:0032630 MC1DN26 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 mitochondrial complex 1 deficiency, nuclear type 26 MONDO:0032631 MC1DN27 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27 mitochondrial complex 1 deficiency, nuclear type 27 MONDO:0032632 MC1DN28 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 mitochondrial complex 1 deficiency, nuclear type 28 MONDO:0032633 MC1DN29 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29 mitochondrial complex 1 deficiency, nuclear type 29 MONDO:0032634 MC1DN31 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 mitochondrial complex 1 deficiency, nuclear type 31 MONDO:0032635 MC1DN32 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 mitochondrial complex 1 deficiency, nuclear type 32 MONDO:0032636 MC1DN33 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 mitochondrial complex 1 deficiency, nuclear type 33 MONDO:0032637 CILD39 CILIARY DYSKINESIA, PRIMARY, 39 Ciliary Dyskinesia, Primary, 39, With or Without Situs Inversus ciliary dyskinesia, primary, 39 MONDO:0032639 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB112 deafness, autosomal recessive 112 hearing loss, autosomal recessive 112 MONDO:0032641 MIRROR MOVEMENTS 4 MRMV4 mirror movements 4 MONDO:0032642 ACCIID ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development MONDO:0032643 COASY-related pontocerebellar hypoplasia PCH12 PONTOCEREBELLAR HYPOPLASIA, TYPE 12 pontocerebellar hypoplasia, type 12 MONDO:0032644 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 epidermodysplasia verruciformis 3 EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3 EV3 epidermodysplasia verruciformis, susceptibility to, 3 MONDO:0032645 THNS TRICHOHEPATONEURODEVELOPMENTAL SYNDROME trichohepatoneurodevelopmental syndrome MONDO:0032646 CAKUT3 CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3 congenital anomalies of kidney and urinary tract 3 MONDO:0032648 MCCCHCM MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations MONDO:0032649 HYPOTRICHOSIS 14 HYPT14 hypotrichosis 14 MONDO:0032650 CONDCA NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY neurodegeneration, childhood-onset, with cerebellar atrophy MONDO:0032651 https://github.com/monarch-initiative/mondo/issues/4521 FINCA syndrome FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS FINCA fibrosis, neurodegeneration, and cerebral angiomatosis MONDO:0032653 CARDIAC-UROGENITAL SYNDROME CUGS cardiac-urogenital syndrome MONDO:0032654 HIES3 HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE hyper-IgE recurrent infection syndrome 3, autosomal recessive MONDO:0032655 VIPB VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI visual impairment and progressive phthisis bulbi MONDO:0032656 MCIDDS MICROCEPHALY, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSTONIA WITH ABNORMAL STRIATUM microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum MONDO:0032657 https://github.com/monarch-initiative/mondo/issues/4521 DEE69 EIEE69 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69 developmental and epileptic encephalopathy 69 epileptic encephalopathy, early infantile, 69 developmental and epileptic encephalopathy, 69 MONDO:0032658 MACID MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT Macrocephaly, Acquired, With Mental Retardation macrocephaly, acquired, with impaired intellectual development MONDO:0032659 CMCU MUCOCUTANEOUS ULCERATION, CHRONIC mucocutaneous ulceration, chronic MONDO:0032660 https://github.com/monarch-initiative/mondo/issues/4521 spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant SMALED2B SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant MONDO:0032661 https://github.com/monarch-initiative/mondo/issues/3680 NEDIDHA NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia MONDO:0032662 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67 MRT67 Mental Retardation, Autosomal Recessive 67 intellectual developmental disorder, autosomal recessive 67 MONDO:0032663 https://github.com/monarch-initiative/mondo/issues/4521 DEE70 EIEE70 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70 developmental and epileptic encephalopathy 70 epileptic encephalopathy, early infantile, 70 developmental and epileptic encephalopathy, 70 MONDO:0032664 CILD40 CILIARY DYSKINESIA, PRIMARY, 40 Ciliary Dyskinesia, Primary, 40, With or Without Situs Inversus ciliary dyskinesia, primary, 40 MONDO:0032665 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68 MRT68 Mental Retardation, Autosomal Recessive 68 intellectual developmental disorder, autosomal recessive 68 MONDO:0032666 EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4 EV4 epidermodysplasia verruciformis, susceptibility to, 4 MONDO:0032667 EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5 EV5 epidermodysplasia verruciformis, susceptibility to, 5 MONDO:0032668 DBA18 DIAMOND-BLACKFAN ANEMIA 18 Diamond-Blackfan anemia 18 MONDO:0032669 DBA19 DIAMOND-BLACKFAN ANEMIA 19 Diamond-Blackfan anemia 19 MONDO:0032670 DBA20 DIAMOND-BLACKFAN ANEMIA 20 Diamond-Blackfan anemia 20 MONDO:0032672 IDDCDF INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES intellectual developmental disorder with cardiac defects and dysmorphic facies MONDO:0032673 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE IBGC7 basal ganglia calcification, idiopathic, 7, autosomal recessive MONDO:0032675 https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 myasthenic syndrome, congenital, 25 CMS25 MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC myasthenic syndrome, congenital, 25, presynaptic MONDO:0032677 LIS9 LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION lissencephaly 9 with complex brainstem malformation MONDO:0032678 https://github.com/monarch-initiative/mondo/issues/4521 DEE71 EIEE71 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 71 developmental and epileptic encephalopathy 71 epileptic encephalopathy, early infantile, 71 Glutaminase Deficiency With Neonatal Epileptic Encephalopathy developmental and epileptic encephalopathy, 71 MONDO:0032679 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37 COXPD37 combined oxidative phosphorylation deficiency 37 MONDO:0032680 GDDI GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT global developmental delay with or without impaired intellectual development MONDO:0032681 https://github.com/monarch-initiative/mondo/issues/5671 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS PEERB encephalopathy, progressive, early-onset, with episodic rhabdomyolysis MONDO:0032684 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 IMAGE-I syndrome IMAGEI INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY Imagei Syndrome intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency MONDO:0032685 infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development CASGID INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032686 SPERMATOGENIC FAILURE 35 SPGF35 spermatogenic failure 35 MONDO:0032687 IDDABS INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE intellectual developmental disorder with abnormal behavior, microcephaly, and short stature MONDO:0032688 https://github.com/monarch-initiative/mondo/issues/4521 polymicrogyria with or without vascular-type EDS PMGEDSV POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME polymicrogyria with or without vascular-type ehlers-danlos syndrome MONDO:0032689 RETINITIS PIGMENTOSA 85 RP85 retinitis pigmentosa 85 MONDO:0032690 MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS MIGSB microcephaly, growth deficiency, seizures, and brain malformations MONDO:0032691 GALLOWAY-MOWAT SYNDROME 6 GAMOS6 Galloway-Mowat syndrome 6 MONDO:0032692 GALLOWAY-MOWAT SYNDROME 7 GAMOS7 Galloway-Mowat syndrome 7 MONDO:0032693 GALLOWAY-MOWAT SYNDROME 8 GAMOS8 Galloway-Mowat syndrome 8 MONDO:0032694 MCPH25 MICROCEPHALY 25, PRIMARY, AUTOSOMAL RECESSIVE microcephaly 25, primary, autosomal recessive MONDO:0032696 OOCYTE MATURATION DEFECT 6 OOMD6 oocyte maturation defect 6 MONDO:0032697 https://github.com/monarch-initiative/mondo/issues/3680 NEDLBA NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES neurodevelopmental disorder and language delay with or without structural brain abnormalities MONDO:0032698 https://github.com/monarch-initiative/mondo/issues/3680 NEDCPMD NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION neurodevelopmental disorder with central and peripheral motor dysfunction MONDO:0032699 https://github.com/monarch-initiative/mondo/issues/2543 EIG15 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 15 epilepsy, idiopathic generalized, susceptibility to, 15 MONDO:0032702 Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCC2 gene. https://github.com/monarch-initiative/mondo/issues/3939 SMARCC2-related BAFopathy COFFIN-SIRIS SYNDROME 8 CSS8 Editor note: Fix placement after https://github.com/monarch-initiative/mondo/issues/1466 Coffin-Siris syndrome 8 MONDO:0032703 https://github.com/monarch-initiative/mondo/issues/4948 SHORT STATURE, AMELOGENESIS IMPERFECTA, AND SKELETAL DYSPLASIA WITH SCOLIOSIS SSASKS short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis MONDO:0032705 https://github.com/monarch-initiative/mondo/issues/3542 https://github.com/monarch-initiative/mondo/issues/3680 MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome NEDMEHM NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination MONDO:0032706 SCAR27 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27 spinocerebellar ataxia, autosomal recessive 27 MONDO:0032707 Neurocardioskeletal Syndrome TPFS TURNPENNY-FRY SYNDROME turnpenny-fry syndrome MONDO:0032710 https://github.com/monarch-initiative/mondo/issues/4521 DEE72 EIEE72 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 72 developmental and epileptic encephalopathy 72 epileptic encephalopathy, early infantile, 72 developmental and epileptic encephalopathy, 72 MONDO:0032712 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38 COXPD38 combined oxidative phosphorylation deficiency 38 MONDO:0032714 FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME FHEIG facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome MONDO:0032715 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69 MRT69 Mental Retardation, Autosomal Recessive 69 intellectual developmental disorder, autosomal recessive 69 MONDO:0032716 acute reversible leukoencephalopathy due to SLC13A3 deficiency acute reversible leukoencephalopathy due to sodium-dependent dicarboxylate transporter deficiency acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate ARLIAK LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate MONDO:0032717 AI3C AMELOGENESIS IMPERFECTA, TYPE IIIC Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Recessive amelogenesis imperfecta, type 3c MONDO:0032721 SEDKF SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE Sed With Elevated Blood Lysosomal Enzymes spondyloepiphyseal dysplasia, kondo-fu type MONDO:0032723 https://github.com/monarch-initiative/mondo/issues/4521 immunodeficiency 60 and autoimmunity IMD60 IMMUNODEFICIENCY 60 Immunodeficiency and Autoimmunity, Bach2-Related immunodeficiency 60 MONDO:0032724 https://github.com/monarch-initiative/mondo/issues/4948 SEMDJL3 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3 spondyloepimetaphyseal dysplasia with joint laxity, type 3 MONDO:0032725 https://github.com/monarch-initiative/mondo/issues/4521 DEE74 EIEE74 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 74 developmental and epileptic encephalopathy 74 epileptic encephalopathy, early infantile, 74 developmental and epileptic encephalopathy, 74 MONDO:0032726 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 COXPD39 combined oxidative phosphorylation deficiency 39 MONDO:0032728 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE CMT2EE Charcot-Marie-Tooth Neuropathy, Type 2Ee Charcot-Marie-Tooth disease, axonal, type 2EE MONDO:0032729 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70 MRT70 Mental Retardation, Autosomal Recessive 70 intellectual developmental disorder, autosomal recessive 70 MONDO:0032730 HLD18 LEUKODYSTROPHY, HYPOMYELINATING, 18 leukodystrophy, hypomyelinating, 18 MONDO:0032732 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB113 deafness, autosomal recessive 113 hearing loss, autosomal recessive 113 MONDO:0032733 GDPAG GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE Glutaminase Deficiency With Impaired Intellectual Development and Progressive Ataxia global developmental delay, progressive ataxia, and elevated glutamine MONDO:0032735 CATARACT 48 CTRCT48 cataract 48 MONDO:0032736 MECREN METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression MONDO:0032737 SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT SPG80 spastic paraplegia 80, autosomal dominant MONDO:0032738 GDRM GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy MONDO:0032739 SPERMATOGENIC FAILURE 36 SPGF36 spermatogenic failure 36 MONDO:0032740 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB100 deafness, autosomal recessive 100 hearing loss, autosomal recessive 100 MONDO:0032741 https://github.com/monarch-initiative/mondo/issues/3680 NEDISHM NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS neurodevelopmental disorder with impaired speech and hyperkinetic movements MONDO:0032742 https://github.com/monarch-initiative/mondo/issues/5671 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9 IIAE9 encephalopathy, acute, infection-induced, susceptibility to, 9 MONDO:0032744 SPERMATOGENIC FAILURE 37 SPGF37 spermatogenic failure 37 MONDO:0032745 developmental delay with variable intellectual impairment and behavioral abnormalities DDVIBA DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES developmental delay with variable intellectual impairment and behavioral abnormalities MONDO:0032746 HYDATIDIFORM MOLE, RECURRENT, 3 HYDM3 hydatidiform mole, recurrent, 3 MONDO:0032747 HYDATIDIFORM MOLE, RECURRENT, 4 HYDM4 hydatidiform mole, recurrent, 4 MONDO:0032748 SPERMATOGENIC FAILURE 38 SPGF38 spermatogenic failure 38 MONDO:0032749 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB94 deafness, autosomal recessive 94 hearing loss, autosomal recessive 94 MONDO:0032750 DA2B2 arthrogryposis, distal, type 2B2 arthrogryposis, distal, type 2B2 MONDO:0032751 https://github.com/monarch-initiative/mondo/issues/4521 DA2B3 arthrogryposis, distal, type 2B3 arthrogryposis, distal, type 2B3 (Sheldon-Hall) distal arthrogryposis type 2B3 (Sheldon-Hall) arthrogryposis, distal, type 2B3 MONDO:0032752 https://github.com/monarch-initiative/mondo/issues/4521 DEE75 EIEE75 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 75 developmental and epileptic encephalopathy 75 epileptic encephalopathy, early infantile, 75 developmental and epileptic encephalopathy, 75 MONDO:0032753 SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE SPAX9 spastic ataxia 9, autosomal recessive MONDO:0032755 https://github.com/monarch-initiative/mondo/issues/3680 NEDBA NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES neurodevelopmental disorder with or without variable brain abnormalities; NEDBA MONDO:0032756 LONG QT SYNDROME 8 LQT8 long qt syndrome 8 MONDO:0032757 CILD41 CILIARY DYSKINESIA, PRIMARY, 41 ciliary dyskinesia, primary, 41 MONDO:0032758 NDCAMA NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia MONDO:0032759 IDDSSA INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES intellectual developmental disorder with short stature and variable skeletal anomalies MONDO:0032760 DEDDFA DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM developmental delay with or without dysmorphic facies and autism MONDO:0032761 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB114 deafness, autosomal recessive 114 hearing loss, autosomal recessive 114 MONDO:0032762 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB115 deafness, autosomal recessive 115 hearing loss, autosomal recessive 115 MONDO:0032763 immunodeficiency 62 IMD62 IMMUNODEFICIENCY 62 immunodeficiency 62 MONDO:0032764 3K Syndrome 3KS KHAN-KHAN-KATSANIS SYNDROME Khan-Khan-Katsanis syndrome MONDO:0032765 BDPLT22 BLEEDING DISORDER, PLATELET-TYPE, 22 bleeding disorder, platelet-type, 22 MONDO:0032766 https://github.com/monarch-initiative/mondo/issues/4521 ApoA-I and apoC-III deficiency, combined HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2 hypoalphalipoproteinemia, primary, 2, with or without corneal clouding Apolipoprotein A-I Deficiency High Density Lipoprotein Deficiency hypoalphalipoproteinemia, primary, 2 MONDO:0032767 PARAGANGLIOMAS 6 PGL6 paragangliomas 6 MONDO:0032768 https://github.com/monarch-initiative/mondo/issues/4521 DEE76 EIEE76 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76 developmental and epileptic encephalopathy 76 epileptic encephalopathy, early infantile, 76 Developmental Delay, Epileptic Encephalopathy, Cerebral Atrophy, and Abnormal Myelination developmental and epileptic encephalopathy, 76 MONDO:0032770 Any BAFopathy in which the cause of the disease is a mutation in the ACTL6B gene. https://github.com/monarch-initiative/mondo/issues/3939 ACTL6B-related BAFopathy IDDSSAD INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS intellectual developmental disorder with severe speech and ambulation defects MONDO:0032771 PARAGANGLIOMAS 7 PGL7 paragangliomas 7 MONDO:0032772 BANDDOS BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS brain abnormalities, neurodegeneration, and dysosteosclerosis MONDO:0032773 https://github.com/monarch-initiative/mondo/issues/4521 uridine-cytidineuria URCTU URIDINE-CYTIDINEURIA uridine-cytidineuria MONDO:0032774 CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME COFG cerebellar, ocular, craniofacial, and genital syndrome MONDO:0032775 https://github.com/monarch-initiative/mondo/issues/3680 NEDSSWI NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT neurodevelopmental disorder with seizures and speech and walking impairment MONDO:0032776 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB99 deafness, autosomal recessive 99 hearing loss, autosomal recessive 99 MONDO:0032777 GEFSP10 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10 Gefs+, Type 10 generalized epilepsy with febrile seizures plus, type 10 MONDO:0032778 AMCM arthrogryposis multiplex congenita, myogenic type arthrogryposis multiplex congenita 3, myogenic type MONDO:0032779 https://github.com/monarch-initiative/mondo/issues/3680 NEDMIBA NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES neurodevelopmental disorder with microcephaly and structural brain anomalies MONDO:0032780 HIDEA HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities MONDO:0032781 https://github.com/monarch-initiative/mondo/issues/4069 CHEDDA CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES congenital hypotonia, epilepsy, developmental delay, and digital anomalies MONDO:0032782 Cd122 Deficiency IMD63 IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY Il2Rb Deficiency Interleukin 2 Receptor, Beta, Deficiency of immunodeficiency 63 with lymphoproliferation and autoimmunity MONDO:0032783 AORTIC VALVE DISEASE 3 AOVD3 aortic valve disease 3 MONDO:0032784 https://github.com/monarch-initiative/mondo/issues/3680 NEDNEH NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements MONDO:0032785 PAPA10 POLYDACTYLY, POSTAXIAL, TYPE A10 polydactyly, postaxial, type a10 MONDO:0032786 NOONAN SYNDROME 11 NS11 Noonan syndrome 11 MONDO:0032787 https://github.com/monarch-initiative/mondo/issues/4521 holoprosencephaly 12, with or without pancreatic agenesis HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS HPE12 holoprosencephaly 12 with or without pancreatic agenesis MONDO:0032788 CASVDD CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY cerebellar atrophy with seizures and variable developmental delay MONDO:0032789 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71 MRT71 Mental Retardation, Autosomal Recessive 71 intellectual developmental disorder, autosomal recessive 71 MONDO:0032790 https://github.com/monarch-initiative/mondo/issues/3680 NEDCFSA NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities MONDO:0032791 COFFIN-SIRIS SYNDROME 10 CSS10 Coffin-Siris syndrome 10 MONDO:0032792 CMT 6C CMT6C Charcot-Marie-Tooth Disease, Type 6C HMSN 6C HMSN6C neuropathy, hereditary motor and sensory, type VIc, with optic atrophy neuropathy, hereditary motor and sensory, type VIc, with optic atrophy MONDO:0032793 O'Donnell-Luria-Rodan syndrome ODLURO O'Donnell-Luria-Rodan syndrome MONDO:0032794 https://github.com/monarch-initiative/mondo/issues/4069 LCA19 LEBER CONGENITAL AMAUROSIS 19 leber congenital amaurosis 19 MONDO:0032795 intellectual developmental disorder 59 INTELLECTUAL DEVELOPMENTAL DISORDER 59 MRD59 Mental Retardation, Autosomal Dominant 59 intellectual developmental disorder 59 MONDO:0032796 https://github.com/monarch-initiative/mondo/issues/4521 hyper-IgE recurrent infection syndrome 4B, autosomal recessive HIES4 HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE hyper-IgE recurrent infection syndrome 4, autosomal recessive MONDO:0032797 MYOPATHY, CONGENITAL, WITH TREMOR MYOTREM Myogenic Tremor myopathy, congenital, with tremor MONDO:0032798 https://github.com/monarch-initiative/mondo/issues/4521 ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES IKSHD ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features MONDO:0032799 MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE) MTDPS16 mitochondrial DNA depletion syndrome 16 (hepatic type) MONDO:0032800 ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 RRS2 robinow syndrome, autosomal recessive 2 MONDO:0032801 EKVP6 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6 erythrokeratodermia variabilis et progressiva 6 MONDO:0032802 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DEAFNESS, AUTOSOMAL DOMINANT 37 DFNA37 deafness, autosomal dominant 37 hearing loss, autosomal dominant 37 MONDO:0032803 IMD64 IMMUNODEFICIENCY 64 immunodeficiency 64 MONDO:0032804 ECTD15 ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE ectodermal dysplasia 15, hypohidrotic/hair type MONDO:0032805 HOD HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT hypopigmentation, organomegaly, and delayed myelination and development MONDO:0032806 TRICHOTHIODYSTROPHY 7, NONPHOTOSENSITIVE TTD7 trichothiodystrophy 7, nonphotosensitive MONDO:0032807 https://github.com/monarch-initiative/mondo/issues/3680 NEDVIBA NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES neurodevelopmental disorder with visual defects and brain anomalies MONDO:0032808 DEE77 EIEE77 epileptic encephalopathy, early infantile, 77 multiple congenital anomalies-hypotonia-seizures syndrome 4 glycosylphosphatidylinositol biosynthesis defect 19 developmental and epileptic encephalopathy, 77 MONDO:0032809 FVH HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO hepatitis, fulminant viral, susceptibility to MONDO:0032810 OOCYTE MATURATION DEFECT 7 OOMD7 oocyte maturation defect 7 MONDO:0032811 https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 CSNB1I NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I night blindness, congenital stationary, type 1I night blindness, congenital stationary, type1i MONDO:0032812 https://github.com/monarch-initiative/mondo/issues/4521 DEE78 EIEE78 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 78 developmental and epileptic encephalopathy 78 epileptic encephalopathy, early infantile, 78 developmental and epileptic encephalopathy, 78 MONDO:0032813 https://github.com/monarch-initiative/mondo/issues/4521 DEE79 EIEE79 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 79 developmental and epileptic encephalopathy 79 epileptic encephalopathy, early infantile, 79 developmental and epileptic encephalopathy, 79 MONDO:0032814 Dementia, Hereditary Multi-Infarct, Swedish Type MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT PADMAL microangiopathy and leukoencephalopathy, pontine, autosomal dominant MONDO:0032815 MITOCHONDRIAL DNA DEPLETION SYNDROME 17 MTDPS17 mitochondrial DNA depletion syndrome 17 MONDO:0032816 https://github.com/monarch-initiative/mondo/issues/3680 NEDAHM NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY neurodevelopmental disorder with ataxia, hypotonia, and microcephaly MONDO:0032817 https://github.com/monarch-initiative/mondo/issues/3680 NDCAGF NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies MONDO:0032818 https://github.com/monarch-initiative/mondo/issues/3680 NEDCHS NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY neurodevelopmental disorder with cerebellar hypoplasia and spasticity MONDO:0032819 https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/5106 TRH resistance syndrome central hypothyroidism due to TRH receptor deficiency hypothyroidism, congenital, nongoitrous, 7 resistance to thyrotropin-releasing hormone syndrome CHNG7 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7 thyrotropin-releasing hormone resistance, generalized hypothyroidism, congenital, nongoitrous, 7 MONDO:0032820 https://github.com/monarch-initiative/mondo/issues/3680 NEDBAF NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES neurodevelopmental disorder with structural brain anomalies and dysmorphic facies MONDO:0032821 MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS MYOSCO myopathy, congenital, progressive, with scoliosis MONDO:0032822 https://github.com/monarch-initiative/mondo/issues/4521 DEE80 EIEE80 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80 developmental and epileptic encephalopathy 80 epileptic encephalopathy, early infantile, 80 Glycosylphosphatidylinositol Biosynthesis Defect 20 developmental and epileptic encephalopathy, 80 MONDO:0032823 INTELLECTUAL DEVELOPMENTAL DISORDER 60 WITH SEIZURES MRD60 Mental Retardation, Autosomal Dominant 60, With Seizures intellectual developmental disorder 60 with seizures MONDO:0032824 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 21 GPIBD21 Neurodevelopmental Disorder With Brain Anomalies, Seizures, and Scoliosis glycosylphosphatidylinositol biosynthesis defect 21 MONDO:0032826 NEPHROTIC SYNDROME, TYPE 21 NPHS21 nephrotic syndrome, type 21 MONDO:0032827 https://github.com/monarch-initiative/mondo/issues/2543 EIG16 epilepsy, idiopathic generalized, susceptibility to, 16 MONDO:0032828 SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE STAHP Sod1 Deficiency, Autosomal Recessive spastic tetraplegia and axial hypotonia, progressive MONDO:0032829 https://github.com/monarch-initiative/mondo/issues/3680 neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities NEDHIB NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities MONDO:0032830 SNIBFIS SNIJDERS BLOK-FISHER SYNDROME snijders blok-fisher syndrome MONDO:0032831 PCH13 PONTOCEREBELLAR HYPOPLASIA, TYPE 13 pontocerebellar hypoplasia, type 13 MONDO:0032832 Chromosome 12Q15 Deletion Syndrome IDNADFS INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies MONDO:0032833 https://github.com/monarch-initiative/mondo/issues/4069 LOWER URINARY TRACT OBSTRUCTION, CONGENITAL LUTO lower urinary tract obstruction, congenital MONDO:0032834 RETINITIS PIGMENTOSA 86 RP86 retinitis pigmentosa 86 MONDO:0032835 SEDN SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE spondyloepiphyseal dysplasia, nishimura type MONDO:0032836 weiss-kruszka syndrome WEISS-KRUSZKA SYNDROME WSKA weiss-kruszka syndrome MONDO:0032837 ABDOMINAL OBESITY-METABOLIC SYNDROME 4 AOMS4 abdominal obesity-metabolic syndrome 4 MONDO:0032838 https://github.com/monarch-initiative/mondo/issues/3680 NEDMABA NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies MONDO:0032839 NOONAN SYNDROME 12 NS12 noonan syndrome 12 MONDO:0032841 USH1M USHER SYNDROME, TYPE 1M Usher syndrome, type 1M MONDO:0032842 Deafness, Dystonia, Developmental Delay, and Poor Growth SIDDIQI SYNDROME SIDDIS Siddiqi syndrome MONDO:0032843 OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1 OPML1 oculopharyngeal myopathy with leukoencephalopathy 1 MONDO:0032844 ILFS3 INFANTILE LIVER FAILURE SYNDROME 3 infantile liver failure syndrome 3 MONDO:0032845 SPERMATOGENIC FAILURE 39 SPGF39 spermatogenic failure 39 MONDO:0032846 OI20 OSTEOGENESIS IMPERFECTA, TYPE XX osteogenesis imperfecta, type 20 MONDO:0032848 IMD65 IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS immunodeficiency 65, susceptibility to viral infections MONDO:0032849 https://github.com/monarch-initiative/mondo/issues/3680 https://github.com/monarch-initiative/mondo/issues/4521 Halperin-Birk syndrome NEDSOSB NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies MONDO:0032850 NEUROOCULOCARDIOGENITOURINARY SYNDROME NOCGUS neurooculocardiogenitourinary syndrome MONDO:0032851 IDDILF INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES intellectual developmental disorder with impaired language and dysmorphic facies MONDO:0032852 https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 myopathy, congenital with structured cores and z-line abnormalities MYOCOZ MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES Multiple Structured Core Disease myopathy, congenital, with structured cores and z-line abnormalities MONDO:0032853 https://github.com/monarch-initiative/mondo/issues/4521 myopathy, distal, 6, adult onset MPD6 MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT myopathy, distal, 6, adult-onset, autosomal dominant MONDO:0032854 ZIMMERMANN-LABAND SYNDROME 3 ZLS3 zimmermann-laband syndrome 3 MONDO:0032855 https://github.com/monarch-initiative/mondo/issues/3680 NEDDFSA NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies MONDO:0032857 DIAR11 DIARRHEA 11, MALABSORPTIVE, CONGENITAL Intractable Diarrhea of Infancy Syndrome diarrhea 11, malabsorptive, congenital MONDO:0032858 https://github.com/monarch-initiative/mondo/issues/4521 DEE81 EIEE81 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 81 developmental and epileptic encephalopathy 81 epileptic encephalopathy, early infantile, 81 developmental and epileptic encephalopathy, 81 MONDO:0032859 SPERMATOGENIC FAILURE 40 SPGF40 spermatogenic failure 40 MONDO:0032860 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72 MRT72 Mental Retardation, Autosomal Recessive 72 intellectual developmental disorder, autosomal recessive 72 MONDO:0032862 https://github.com/monarch-initiative/mondo/issues/4069 HYDCC1 HYDROCEPHALUS, CONGENITAL COMMUNICATING, 1 hydrocephalus, congenital communicating, 1 MONDO:0032863 SPERMATOGENIC FAILURE 41 SPGF41 spermatogenic failure 41 MONDO:0032864 IDDSADF INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES intellectual developmental disorder with speech delay, autism, and dysmorphic facies MONDO:0032865 PFBMFT5 PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 5 pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 MONDO:0032866 CDCBM10 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10 cortical dysplasia, complex, with other brain malformations 10 MONDO:0032867 PANCREATIC CANCER, SUSCEPTIBILITY TO, 5 PNCA5 pancreatic cancer, susceptibility to, 5 MONDO:0032868 LESSEL-KUBISCH SYNDROME LSKB lessel-kubisch syndrome MONDO:0032869 MC5DN6 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6 mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6 MONDO:0032870 IDDSSBA INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES intellectual developmental disorder with short stature and behavioral abnormalities MONDO:0032871 HLD19 LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE leukodystrophy, hypomyelinating, 19, transient infantile MONDO:0032872 CILD42 CILIARY DYSKINESIA, PRIMARY, 42 Ciliary Dyskinesia, Primary, 42, Without Situs Inversus ciliary dyskinesia, primary, 42 MONDO:0032873 RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT RP87 retinitis pigmentosa 87 with choroidal involvement MONDO:0032874 CILD43 CILIARY DYSKINESIA, PRIMARY, 43 Ciliary Dyskinesia, Primary, 43, With or Without Situs Inversus ciliary dyskinesia, primary, 43 MONDO:0032875 SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES SSMGA short stature and microcephaly with genital anomalies MONDO:0032876 https://github.com/monarch-initiative/mondo/issues/3680 Ito-Raymond Syndrome NEDALVS NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES neurodevelopmental disorder with absent language and variable seizures MONDO:0032877 https://github.com/monarch-initiative/mondo/issues/3680 neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures NEDBAS NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures MONDO:0032878 https://github.com/monarch-initiative/mondo/issues/3680 NEDBASH NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia MONDO:0032879 MEGABLADDER, CONGENITAL MGBL megabladder, congenital MONDO:0032880 https://github.com/monarch-initiative/mondo/issues/4521 DEE82 EIEE82 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 82 developmental and epileptic encephalopathy 82 epileptic encephalopathy, early infantile, 82 Glutamate Oxaloacetate Transaminase, Mitochondrial, Deficiency of Got2 Deficiency developmental and epileptic encephalopathy, 82 MONDO:0032881 POF16 PREMATURE OVARIAN FAILURE 16 premature ovarian failure 16 MONDO:0032882 HESJAS HEYN-SPROUL-JACKSON SYNDROME Microcephaly, Short Stature, and Impaired Intellectual Development Heyn-Sproul-Jackson syndrome MONDO:0032883 IDDBCS INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures MONDO:0032884 https://github.com/monarch-initiative/mondo/issues/4521 ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES EDFAOB ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies MONDO:0032885 SEMDIST SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE spondyloepimetaphyseal dysplasia, Isidor-Toutain type MONDO:0032886 LIANG-WANG SYNDROME LIWAS Liang-Wang syndrome MONDO:0032887 https://github.com/monarch-initiative/mondo/issues/3680 NEDMCMS NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY Vandervore-Schot Syndrome neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity MONDO:0032888 https://github.com/monarch-initiative/mondo/issues/3680 NEDBAVC NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies MONDO:0032889 https://github.com/monarch-initiative/mondo/issues/3680 POBINDS POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME Poirier-Bienvenu neurodevelopmental syndrome MONDO:0032890 NEUROMUSCULAR DISEASE AND OCULAR OR AUDITORY ANOMALIES WITH OR WITHOUT SEIZURES NMOAS neuromuscular disease and ocular or auditory anomalies with or without seizures MONDO:0032891 ANEURYSM, INTRACRANIAL BERRY, 12 ANIB12 aneurysm, intracranial berry, 12 MONDO:0032892 BAIDCS STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS structural brain anomalies with impaired intellectual development and craniosynostosis MONDO:0032893 PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES PAMDDFS pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures MONDO:0032894 https://github.com/monarch-initiative/mondo/issues/3680 NEDESBA NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy MONDO:0032895 https://github.com/monarch-initiative/mondo/issues/4521 DEE83 EIEE83 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 83 developmental and epileptic encephalopathy 83 epileptic encephalopathy, early infantile, 83 Barakat-Perenthaler Syndrome developmental and epileptic encephalopathy, 83 MONDO:0032896 SPERMATOGENIC FAILURE 42 SPGF42 spermatogenic failure 42 MONDO:0032897 IDDHBA INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES intellectual developmental disorder with hypotonia and behavioral abnormalities MONDO:0032898 SPERMATOGENIC FAILURE 43 SPGF43 spermatogenic failure 43 MONDO:0032899 NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT Neutropenia, Severe Congenital, 8, Autosomal Dominant, With or Without Pancreatic Dysfunction And/Or Neurologic Abnormalities SCN8 Shwachman-Diamond Syndrome-Like neutropenia, severe congenital, 8, autosomal dominant MONDO:0032900 https://github.com/monarch-initiative/mondo/issues/3680 NEDHAHM NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements MONDO:0032901 CATIFA CATIFA SYNDROME Cleft Lip, Cataract, Tooth Abnormality, Impaired Intellectual Development, Facial Dysmorphism, and Attention-Deficit Hyperactivity Disorder Catifa syndrome MONDO:0032902 JBTS36 JOUBERT SYNDROME 36 Joubert syndrome 36 MONDO:0032903 AMCNACC arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum Zain Syndrome arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum MONDO:0032904 https://github.com/monarch-initiative/mondo/issues/4521 meesmann corneal dystrophy 2 CORNEAL DYSTROPHY, MEESMANN, 2 MECD2 corneal dystrophy, Meesmann, 2 MONDO:0032905 SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE SPG81 spastic paraplegia 81, autosomal recessive MONDO:0032906 SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE SPG82 spastic paraplegia 82, autosomal recessive MONDO:0032907 LMPHM8 LYMPHATIC MALFORMATION 8 lymphatic malformation 8 MONDO:0032908 MCTT MN1 C-terminal truncation syndrome CEBALID CEBALID SYNDROME Craniofacial Defects, Dysmorphic Ears, Structural Brain Abnormalities, Expressive Language Delay, and Impaired Intellectual Development CEBALID syndrome MONDO:0032909 MC3DN10 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10 mitochondrial complex 3 deficiency, nuclear type 10 MONDO:0032910 MC1DN34 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34 mitochondrial complex 1 deficiency, nuclear type 34 MONDO:0032911 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DEAFNESS, AUTOSOMAL DOMINANT 75 DFNA75 deafness, autosomal dominant 75 hearing loss, autosomal dominant 75 MONDO:0032912 COFFIN-SIRIS SYNDROME 11 CSS11 Coffin-Siris syndrome 11 MONDO:0032913 https://github.com/monarch-initiative/mondo/issues/4069 CHTD7 CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7 congenital heart defects, multiple types, 7 MONDO:0032914 CILD44 CILIARY DYSKINESIA, PRIMARY, 44 Ciliary Dyskinesia, Primary, 44, Without Situs Inversus ciliary dyskinesia, primary, 44 MONDO:0032915 long QT syndrome 16 LQT16 Ventricular Tachycardia, Catecholaminergic Polymorphic 6 long QT syndrome 16 MONDO:0032916 IMAGAWA-MATSUMOTO SYNDROME IMMAS Imagawa-Matsumoto syndrome MONDO:0032917 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DEAFNESS, AUTOSOMAL DOMINANT 76 DFNA76 deafness, autosomal dominant 76 hearing loss, autosomal dominant 76 MONDO:0032918 https://github.com/monarch-initiative/mondo/issues/4521 DEE84 EIEE84 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 84 developmental and epileptic encephalopathy 84 epileptic encephalopathy, early infantile, 84 Jamuar Syndrome developmental and epileptic encephalopathy, 84 MONDO:0032919 INTELLECTUAL DEVELOPMENTAL DISORDER 62 MRD62 Mental Retardation, Autosomal Dominant 62 intellectual developmental disorder 62 MONDO:0032920 JUVAR JUVENILE ARTHRITIS juvenile arthritis due to defect in LACC1 MONDO:0032921 https://github.com/monarch-initiative/mondo/issues/3680 NEDHRIT NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation MONDO:0032922 BECK-FAHRNER SYNDROME BEFAHRS Beck-Fahrner syndrome MONDO:0032923 SCAR28 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28 spinocerebellar ataxia, autosomal recessive 28 MONDO:0032924 CILD45 CILIARY DYSKINESIA, PRIMARY, 45 Ciliary Dyskinesia, Primary, 45, Without Situs Inversus ciliary dyskinesia, primary, 45 MONDO:0032925 https://github.com/monarch-initiative/mondo/issues/4069 JRRP RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL respiratory papillomatosis, juvenile recurrent, congenital MONDO:0032926 SANDESTIG-STEFANOVA SYNDROME SANDSTEF sandestig-stefanova syndrome MONDO:0032927 TKFCD TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME triokinase and FMN cyclase deficiency syndrome MONDO:0032928 T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT TLIND T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant MONDO:0032930 IDPOGSA INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA intellectual developmental disorder with poor growth and with or without seizures or ataxia MONDO:0032931 fatal pontocerebellar hypoplasia-hypotonia-respiratory distress syndrome fatal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome Chromosome 1P36.33 Deletion Syndrome, Atad3 Gene Cluster, Autosomal Recessive PHRINL PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL Phrinl Syndrome pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal MONDO:0032932 MITOCHONDRIAL DNA DEPLETION SYNDROME 18 MTDPS18 mitochondrial DNA depletion syndrome 18 MONDO:0032933 CHROMOSOME 1p36.33 DUPLICATION SYNDROME, ATAD3 GENE CLUSTER, AUTOSOMAL DOMINANT chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant MONDO:0032934 https://github.com/monarch-initiative/mondo/issues/4521 genitourinary and/or brain malformation syndrome genitourinary and/or/brain malformation syndrome GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME GUBS genitourinary and/or brain malformation syndrome MONDO:0032935 RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES RLSDF rhizomelic limb shortening with dysmorphic features MONDO:0032936 MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES MYORIBF myopathy, congenital, with respiratory insufficiency and bone fractures MONDO:0032937 MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS MYOPMIL myopathy, congenital proximal, with minicore lesions MONDO:0032938 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE IBGC8 basal ganglia calcification, idiopathic, 8, autosomal recessive MONDO:0032939 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY MRD63 Mental Retardation, Autosomal Dominant 63, With Macrocephaly intellectual developmental disorder, autosomal dominant 63, with macrocephaly MONDO:0032940 RETINITIS PIGMENTOSA 88 RP88 retinitis pigmentosa 88 MONDO:0032941 MYOPIA 27 MYP27 myopia 27 MONDO:0032942 https://github.com/monarch-initiative/mondo/issues/3680 https://github.com/monarch-initiative/mondo/issues/4521 nabais sa-de vries syndrome, type 1 NEDMIDF NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND DYSMORPHIC FACIES neurodevelopmental disorder with microcephaly and dysmorphic facies MONDO:0032943 https://github.com/monarch-initiative/mondo/issues/3680 https://github.com/monarch-initiative/mondo/issues/4521 nabais sa-de vries syndrome, type 2 NEDMACE NEURODEVELOPMENTAL DISORDER WITH RELATIVE MACROCEPHALY AND WITH OR WITHOUT CARDIAC OR ENDOCRINE ANOMALIES neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies MONDO:0033004 A autosomal dominant polycystic kidney disease that has material basis in mutation in the PKD4 gene. https://github.com/monarch-initiative/mondo/issues/4521 polycystic kidney disease 4 polycystic kidney disease 4, with or without hepatic disease PKD3 PKD3, formerly PKD4 hepatic fibrosis, congenital polycystic kidney and hepatic disease 1 polycystic kidney disease 4 with or without hepatic disease polycystic kidney disease 4 with or without polycystic liver disease polycystic kidney disease, autosomal recessive polycystic kidney disease, infantile, type 1 polycystic kidney disease 4 MONDO:0033005 Galloway-Mowat syndrome 1 GAMOS1 Galloway syndrome cerebellar ataxia with intellectual disability, optic atrophy, and skin abnormalities cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities microcephaly, hiatal hernia, and nephrotic syndrome nephrosis-microcephaly syndrome nephrosis-neuronal dysmigration syndrome spinocerebellar ataxia, autosomal recessive 5 spinocerebellar ataxia, autosomal recessive 5, formerly Galloway-Mowat syndrome 1 MONDO:0033006 https://github.com/monarch-initiative/mondo/issues/4521 Galloway-Mowat syndrome 2, X-linked Galloway-Mowat syndrome 2, X-linked, X-linked recessive GAMOS2 Galloway-Mowat syndrome 2 Galloway-Mowat syndrome 2, X-linked MONDO:0033007 Galloway-Mowat syndrome 3 GAMOS3 Galloway-Mowat syndrome 3 MONDO:0033008 Galloway-Mowat syndrome 4 GAMOS4 Galloway-Mowat syndrome 4 MONDO:0033009 Galloway-Mowat syndrome 5 GAMOS5 Galloway-Mowat syndrome 5 MONDO:0033010 EKVP1 Greither disease erythrokeratodermia Figurata, congenital familial, in plaques erythrokeratodermia variabilis erythrokeratodermia variabilis ET progressiva 1 erythrokeratodermia variabilis Et progressiva erythrokeratodermia variabilis with erythema Gyratum Repens erythrokeratodermia, progressive symmetric keratosis palmoplantaris transgrediens Et progrediens erythrokeratodermia variabilis et progressiva 1 MONDO:0033012 EKVP2 erythrokeratodermia variabilis ET progressiva 2 erythrokeratodermia variabilis et progressiva 2 MONDO:0033013 EKVP3 erythrokeratodermia variabilis ET progressiva 3 erythrokeratodermia variabilis et progressiva 3 MONDO:0033014 erythrokeratodermia variabilis et progressiva 4 EKVP4 erythrokeratodermia variabilis ET progressiva 4 erythrokeratodermia variabilis et progressiva 4 MONDO:0033015 EKVP5 erythrokeratodermia variabilis ET progressiva 5 erythrokeratodermia variabilis et progressiva 5 MONDO:0033043 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy SPAX8 spastic ataxia 8 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy MONDO:0033044 Meckel syndrome 13 Meckel syndrome, type 13 Joubert syndrome 29 MKS13 Meckel syndrome 13 MONDO:0033045 OFD16 Ofds 16 oral-Facial-digital syndrome, type 16 orofaciodigital syndrome XVI orofaciodigital syndrome 16 MONDO:0033046 Meier-Gorlin syndrome 8 MGORS8 Meier-Gorlin syndrome 8 MONDO:0033047 Perrault syndrome 6 PRLTS6 Perrault syndrome 6 MONDO:0033091 ichthyosis, congenital, autosomal recessive 14 ARCI14 autosomal recessive congenital ichthyosis 14 ichthyosis, congenital, autosomal recessive 14 MONDO:0033092 ichthyosis, congenital, autosomal recessive 13 ARCI13 autosomal recessive congenital ichthyosis 13 ichthyosis, congenital, autosomal recessive 13 MONDO:0033115 spinocerebellar ataxia, autosomal recessive 25 SCAR25 autosomal recessive spinocerebellar ataxia 25 spinocerebellar ataxia, autosomal recessive 25 MONDO:0033116 spinocerebellar ataxia, autosomal recessive 26 SCAR26 autosomal recessive spinocerebellar ataxia 26 spinocerebellar ataxia, autosomal recessive 26 MONDO:0033123 exudative vitreoretinopathy 7 EVR7 exudative vitreoretinopathy 7 MONDO:0033135 A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs. CMT1G Charcot-Marie-Tooth disease, demyelinating, type 1G PMP2-related Charcot-Marie-Tooth disease type 1 Charcot-Marie-Tooth disease, demyelinating, type 1G MONDO:0033169 curariform drugs toxicity MONDO:0033170 statin toxicity MONDO:0033181 phenytoin or carbamazepine toxicity MONDO:0033187 https://github.com/monarch-initiative/mondo/issues/5760 2023-04-01 Reason: duplicate. This will be merged with MONDO:0014781 combined oxidative phosphorylation deficiency 29 combined oxidative phosphorylation defect type 29 MONDO:0033198 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB106 autosomal recessive nonsyndromic deafness 106 deafness autosomal recessive 106 deafness, autosomal recessive 106 hearing loss, autosomal recessive 106 MONDO:0033199 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB107 autosomal recessive nonsyndromic deafness 107 deafness, autosomal recessive 107 hearing loss, autosomal recessive 107 MONDO:0033200 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB108 autosomal recessive nonsyndromic deafness 108 deafness, autosomal recessive 108 hearing loss, autosomal recessive 108 MONDO:0033201 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB57 deafness, autosomal recessive 57 hearing loss, autosomal recessive 57 MONDO:0033202 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB109 deafness, autosomal recessive 109 hearing loss, autosomal recessive 109 MONDO:0033203 nephrotic syndrome 14 nephrotic syndrome, type 14 primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency NPHS14 familial steroid-resistant nephrotic syndrome with adrenal insufficiency nephrotic syndrome 14 MONDO:0033204 ciliary dyskinesia, primary, 37 CILD37 ciliary dyskinesia, primary, 37, with or without situs inversus primary ciliary dyskinesia 37 ciliary dyskinesia, primary, 37 MONDO:0033211 diencephalic-mesencephalic junction dysplasia syndrome MONDO:0033258 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA71 autosomal dominant nonsyndromic deafness 71 deafness, autosomal dominant 71 hearing loss, autosomal dominant 71 MONDO:0033259 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA72 autosomal dominant nonsyndromic deafness 72 deafness, autosomal dominant 72 hearing loss, autosomal dominant 72 MONDO:0033260 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA73 autosomal dominant nonsyndromic deafness 73 deafness, autosomal dominant 73 hearing loss, autosomal dominant 73 MONDO:0033261 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA34 autosomal dominant nonsyndromic deafness 34 deafness, autosomal dominant 34, with or without inflammation hearing loss, autosomal dominant 34, with or without inflammation MONDO:0033262 nephrotic syndrome 15 nephrotic syndrome, type 15 NPHS15 nephrotic syndrome 15 MONDO:0033280 nephrotic syndrome 16 nephrotic syndrome, type 16 NPHS16 nephrotic syndrome 16 MONDO:0033281 Any polycystic kidney disease in which the cause of the disease is a mutation in the DZIP1L gene. DZIP1L polycystic kidney disease polycystic kidney disease 5 polycystic kidney disease caused by mutation in DZIP1L PKD5 polycystic kidney disease 5 MONDO:0033282 multiple mitochondrial dysfunctions syndrome 5 MMDS5 multiple mitochondrial dysfunctions syndrome 5 MONDO:0033304 nonsyndromic deafness, Y-linked MONDO:0033308 Joubert syndrome 30 JBTS30 Joubert syndrome 30 MONDO:0033309 Joubert syndrome 32 JBTS32 Joubert syndrome 32 MONDO:0033310 Joubert syndrome 31 JBTS31 Joubert syndrome 31 MONDO:0033311 Joubert syndrome 33 JBTS33 Joubert syndrome 33 MONDO:0033312 https://github.com/monarch-initiative/mondo/issues/4521 schizophrenia 19 SCZD19 schizophrenia 19 with or without an affective disorder schizophrenia 19, susceptibility to schizophrenia 19 MONDO:0033352 https://github.com/monarch-initiative/mondo/issues/4069 CHN neuropathy, congenital hypomelinating MONDO:0033361 https://github.com/monarch-initiative/mondo/issues/4521 DEE52 EIEE52 developmental and epileptic encephalopathy 52 epileptic encephalopathy, early infantile, 52 developmental and epileptic encephalopathy, 52 MONDO:0033362 https://github.com/monarch-initiative/mondo/issues/4521 DEE53 EIEE53 developmental and epileptic encephalopathy 53 epileptic encephalopathy, early infantile, 53 developmental and epileptic encephalopathy, 53 MONDO:0033363 https://github.com/monarch-initiative/mondo/issues/4521 DEE54 EIEE54 developmental and epileptic encephalopathy 54 epileptic encephalopathy, early infantile, 54 developmental and epileptic encephalopathy, 54 MONDO:0033364 https://github.com/monarch-initiative/mondo/issues/4521 DEE55 EIEE55 developmental and epileptic encephalopathy 55 epileptic encephalopathy, early infantile, 55 glycosylphosphatidylinositol biosynthesis defect 14 infantile epileptic encephalopathy 55 developmental and epileptic encephalopathy, 55 MONDO:0033365 https://github.com/monarch-initiative/mondo/issues/4521 DEE56 EIEE56 developmental and epileptic encephalopathy 56 epileptic encephalopathy, early infantile, 56 infantile epileptic encephalopathy 56 developmental and epileptic encephalopathy, 56 MONDO:0033366 https://github.com/monarch-initiative/mondo/issues/4521 DEE57 EIEE57 developmental and epileptic encephalopathy 57 epileptic encephalopathy, early infantile, 57 infantile epileptic encephalopathy 57 developmental and epileptic encephalopathy, 57 MONDO:0033367 https://github.com/monarch-initiative/mondo/issues/4521 DEE58 EIEE58 developmental and epileptic encephalopathy 58 epileptic encephalopathy, early infantile, 58 infantile epileptic encephalopathy 58 developmental and epileptic encephalopathy, 58 MONDO:0033368 https://github.com/monarch-initiative/mondo/issues/4521 DEE59 EIEE59 developmental and epileptic encephalopathy 59 epileptic encephalopathy, early infantile, 59 infantile epileptic encephalopathy 59 developmental and epileptic encephalopathy, 59 MONDO:0033369 https://github.com/monarch-initiative/mondo/issues/4521 DEE60 EIEE60 developmental and epileptic encephalopathy 60 epileptic encephalopathy, early infantile, 60 developmental and epileptic encephalopathy, 60 MONDO:0033370 https://github.com/monarch-initiative/mondo/issues/4521 DEE61 EIEE61 developmental and epileptic encephalopathy 61 epileptic encephalopathy, early infantile, 61 developmental and epileptic encephalopathy, 61 MONDO:0033371 https://github.com/monarch-initiative/mondo/issues/4521 DEE62 EIEE62 developmental and epileptic encephalopathy 62 epileptic encephalopathy, early infantile, 62 developmental and epileptic encephalopathy, 62 MONDO:0033372 https://github.com/monarch-initiative/mondo/issues/4521 DEE63 EIEE63 developmental and epileptic encephalopathy 63 epileptic encephalopathy, early infantile, 63 developmental and epileptic encephalopathy, 63 MONDO:0033373 https://github.com/monarch-initiative/mondo/issues/4521 DEE64 EIEE64 developmental and epileptic encephalopathy 64 epileptic encephalopathy, early infantile, 64 developmental and epileptic encephalopathy, 64 MONDO:0033374 https://github.com/monarch-initiative/mondo/issues/4521 DEE65 EIEE65 developmental and epileptic encephalopathy 65 epileptic encephalopathy, early infantile, 65 developmental and epileptic encephalopathy, 65 MONDO:0033375 OFD17 Ofds 17 oral-Facial-digital syndrome, type 17 orofaciodigital syndrome XVII orofaciodigital syndrome 17 MONDO:0033479 spinocerebellar ataxia 44 SCA44 spinocerebellar ataxia 44 MONDO:0033480 spinocerebellar ataxia 45 SCA45 spinocerebellar ataxia 45 MONDO:0033481 spinocerebellar ataxia 46 SCA46 spinocerebellar ataxia, 46, autosomal dominant, with sensory axonal neuropathy spinocerebellar ataxia 46 MONDO:0033482 spinocerebellar ataxia 47 SCA47 spinocerebellar ataxia 47 MONDO:0033483 Any familial polycythemia in which the cause of the disease is a mutation in the EPO gene. EPO familial polycythemia erythrocytosis, familial, 5 familial polycythemia caused by mutation in EPO ECYT5 familial erythrocytosis 5 erythrocytosis, familial, 5 MONDO:0033485 short-rib thoracic dysplasia 19 with or without polydactyly SRTD19 short-rib thoracic dysplasia 19 with or without polydactyly MONDO:0033486 leukodystrophy, hypomyelinating, 14 HLD14 hypomyelinating leukodystrophy 14 leukodystrophy, hypomyelinating, 14 MONDO:0033492 Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID2 gene. https://github.com/monarch-initiative/mondo/issues/3939 ARID2-related BAFopathy Coffin-Siris syndrome 6 COFFIN-SIRIS syndrome 6 CSS6 Coffin-Siris syndrome 6 MONDO:0033493 fibromatosis, gingival, 5 GGF5 GINGF5 fibromatosis, gingival, hereditary, 5 gingival fibromatosis 5 fibromatosis, gingival, 5 MONDO:0033532 SULEHS SULEIMAN-EL-HATTAB SYNDROME Suleiman-El-Hattab syndrome MONDO:0033533 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45 COXPD45 combined oxidative phosphorylation deficiency 45 MONDO:0033534 https://github.com/monarch-initiative/mondo/issues/4521 combined oxidative phosphorylation defiency 46 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46 COXPD46 combined oxidative phosphorylation deficiency 46 MONDO:0033537 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47 COXPD47 combined oxidative phosphorylation deficiency 47 MONDO:0033541 https://github.com/monarch-initiative/mondo/issues/4521 immunodeficiency 69, mycobacteriosis IMD69 IMMUNODEFICIENCY 69 Ifng Deficiency, Autosomal Recessive Immunodeficiency 69, Mycobacteriosis, Autosomal Recessive immunodeficiency 69 MONDO:0033542 IMD70 IMMUNODEFICIENCY 70 immunodeficiency 70 MONDO:0033543 https://github.com/monarch-initiative/mondo/issues/4069 CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE CRSDS cone-rod synaptic disorder syndrome, congenital nonprogressive MONDO:0033544 TOLCAS TOLCHIN-LE CAIGNEC SYNDROME intellectual developmental disorder With behavioral abnormalities and variable bone defects Tolchin-Le Caignec syndrome MONDO:0033545 MITOCHONDRIAL DNA DEPLETION SYNDROME 19 MTDPS19 mitochondrial DNA depletion syndrome 19 MONDO:0033546 NERIB NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE Smvt Deficiency Sodium-Dependent Multivitamin Transporter Deficiency neurodegeneration, infantile-onset, biotin-responsive MONDO:0033547 https://github.com/monarch-initiative/mondo/issues/4521 Li-Ghorgani-Weisz-Hubshman syndrome LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME LIGOWS Li-Ghorbani-Weisz-Hubshman syndrome MONDO:0033548 https://github.com/monarch-initiative/mondo/issues/4069 MYODRIF MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES Myopathy, Congenital, Due to Myod1 Deficiency myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies MONDO:0033549 OPA12 OPTIC ATROPHY 12 optic atrophy 12 MONDO:0033551 IMD72 IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION immunodeficiency 72 with autoinflammation MONDO:0033554 IMD73B immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia MONDO:0033555 IMD73C IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia MONDO:0033556 https://github.com/monarch-initiative/mondo/issues/4069 MDDGB15 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15 Muscular Dystrophy, Congenital, Dpm3-Related muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15 MONDO:0033557 https://github.com/monarch-initiative/mondo/issues/4521 immune dysregulation and systemic hyperinflammation syndrome FHL6 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 6 hemophagocytic lymphohistiocytosis, familial, 6 MONDO:0033558 AIIDE AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA Atopic Dermatitis, Enteritis, Colitis, and Eosinophilia autoinflammation, immune dysregulation, and eosinophilia MONDO:0033559 IDDSELD INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY intellectual developmental disorder with seizures and language delay MONDO:0033560 MC1DN35 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35 mitochondrial complex 1 deficiency, nuclear type 35 MONDO:0033561 DEEAH DEEAH SYNDROME Developmental Delay With Endocrine, Exocrine, Autonomic, and Hematologic Abnormalities deeah syndrome MONDO:0033562 https://github.com/monarch-initiative/mondo/issues/3680 https://github.com/monarch-initiative/mondo/issues/4521 neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia NEDDISH NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia MONDO:0033563 RETINITIS PIGMENTOSA 90 RP90 retinitis pigmentosa 90 MONDO:0033564 OOCYTE MATURATION DEFECT 8 OOMD8 oocyte maturation defect 8 MONDO:0033565 OOCYTE MATURATION DEFECT 9 OOMD9 oocyte maturation defect 9 MONDO:0033566 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48 COXPD48 combined oxidative phosphorylation deficiency 48 MONDO:0033569 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49 COXPD49 combined oxidative phosphorylation deficiency 49 MONDO:0033570 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50 COXPD50 combined oxidative phosphorylation deficiency 50 MONDO:0033572 IDDEBF INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies MONDO:0033613 https://github.com/monarch-initiative/mondo/issues/3680 https://github.com/monarch-initiative/mondo/issues/3807 NEDSWMA cerebral palsy, spastic quadriplegic, 1 cerebral palsy, spastic quadriplegic, type 1 CPSQ1 cerebral palsy spastic quadriplegic neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities https://rarediseases.info.nih.gov/diseases/10447/cerebral-palsy-spastic-quadriplegic MONDO:0033614 SPG83 spastic paraplegia 83, autosomal recessive MONDO:0033615 COQ10D9 coenzyme q10 deficiency, primary, 9 MONDO:0033618 VIBOS Vissers-Bodmer syndrome MONDO:0033619 MEPCA myopathy, epilepsy, and progressive cerebral atrophy MONDO:0033620 MFM10 myofibrillar myopathy 10 MONDO:0033621 SMAJI spinal muscular atrophy, infantile, James type MONDO:0033622 SPGF44 spermatogenic failure 44 MONDO:0033630 https://github.com/monarch-initiative/mondo/issues/3680 NEDSID neurodevelopmental disorder with speech impairment and dysmorphic facies MONDO:0033631 COXPD51 combined oxidative phosphorylation deficiency 51 MONDO:0033635 https://github.com/monarch-initiative/mondo/issues/4521 MC4DN3 mitochondrial complex IV deficiency, nuclear type 3 mitochondrial complex 4 deficiency, nuclear type 3 MONDO:0033636 https://github.com/monarch-initiative/mondo/issues/4521 MC4DN4 mitochondrial complex IV deficiency, nuclear type 4 mitochondrial complex 4 deficiency, nuclear type 4 MONDO:0033637 https://github.com/monarch-initiative/mondo/issues/4521 MC4DN7 mitochondrial complex IV deficiency, nuclear type 7 mitochondrial complex 4 deficiency, nuclear type 7 MONDO:0033638 https://github.com/monarch-initiative/mondo/issues/4521 MC4DN8 mitochondrial complex IV deficiency, nuclear type 8 mitochondrial complex 4 deficiency, nuclear type 8 MONDO:0033639 https://github.com/monarch-initiative/mondo/issues/4521 MC4DN10 mitochondrial complex IV deficiency, nuclear type 10 mitochondrial complex 4 deficiency, nuclear type 10 MONDO:0033640 VDDR3 vitamin D-dependent rickets, type 3 MONDO:0033641 CPPRDD cleft palate, proliferative retinopathy, and developmental delay MONDO:0033642 https://github.com/monarch-initiative/mondo/issues/3680 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4985 https://github.com/monarch-initiative/mondo/issues/5336 Bachmann-Bupp syndrome NEDABA global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome neurodevelopmental disorder with alopecia and brain abnormalities MONDO:0033643 https://github.com/monarch-initiative/mondo/issues/4521 IBD30 inflammatory bowel disease (Crohn disease) 30 inflammatory bowel disease 30 MONDO:0033644 MRCS1 microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 MONDO:0033645 https://github.com/monarch-initiative/mondo/issues/4521 MC4DN11 mitochondrial complex IV deficiency, nuclear type 11 mitochondrial complex 4 deficiency, nuclear type 11 MONDO:0033646 https://github.com/monarch-initiative/mondo/issues/4521 MC4DN12 mitochondrial complex IV deficiency, nuclear type 12 mitochondrial complex 4 deficiency, nuclear type 12 MONDO:0033649 https://github.com/monarch-initiative/mondo/issues/4521 MC4DN14 mitochondrial complex IV deficiency, nuclear type 14 mitochondrial complex 4 deficiency, nuclear type 14 MONDO:0033650 https://github.com/monarch-initiative/mondo/issues/4521 MC4DN15 mitochondrial complex IV deficiency, nuclear type 15 mitochondrial complex 4 deficiency, nuclear type 15 MONDO:0033651 https://github.com/monarch-initiative/mondo/issues/4521 MC4DN16 mitochondrial complex IV deficiency, nuclear type 16 mitochondrial complex 4 deficiency, nuclear type 16 MONDO:0033652 https://github.com/monarch-initiative/mondo/issues/4521 MC4DN17 mitochondrial complex IV deficiency, nuclear type 17 mitochondrial complex 4 deficiency, nuclear type 17 MONDO:0033653 https://github.com/monarch-initiative/mondo/issues/4521 MC4DN18 mitochondrial complex IV deficiency, nuclear type 18 mitochondrial complex 4 deficiency, nuclear type 18 MONDO:0033654 https://github.com/monarch-initiative/mondo/issues/4521 MC4DN19 mitochondrial complex IV deficiency, nuclear type 19 mitochondrial complex 4 deficiency, nuclear type 19 MONDO:0033655 https://github.com/monarch-initiative/mondo/issues/4521 MC4DN20 mitochondrial complex IV deficiency, nuclear type 20 mitochondrial complex 4 deficiency, nuclear type 20 MONDO:0033656 https://github.com/monarch-initiative/mondo/issues/4521 MC4DN21 mitochondrial complex IV deficiency, nuclear type 21 mitochondrial complex 4 deficiency, nuclear type 21 MONDO:0033657 HLD20 leukodystrophy, hypomyelinating, 20 MONDO:0033658 https://github.com/monarch-initiative/mondo/issues/3680 NEDSEBA neurodevelopmental disorder with seizures and brain atrophy MONDO:0033662 https://github.com/monarch-initiative/mondo/issues/3680 NEDMISB neurodevelopmental disorder with microcephaly, seizures, and brain atrophy MONDO:0033664 An autosomal recessive multisystem disorder characterized by neurologic, gastrointestinal, and secretory dysfunction. Affected individuals present at birth with hypotonia, feeding difficulties, mild dysmorphic features, and sensorineural hearing loss. They show poor overall growth associated with gastrointestinal anomalies such as gastroesophageal reflux or midgut malrotation, as well as profound global developmental delay with inability to sit or speak. Tear, sweat, and saliva production is also impaired, causing dry mouth and recurrent bronchial mucus plugging. Some of the clinical features are reminiscent of cystic fibrosis. KILQS Kilquist syndrome MONDO:0033665 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA78 deafness, autosomal dominant 78 hearing loss, autosomal dominant 78 MONDO:0033667 DELMNES Delpire-McNeill syndrome MONDO:0033668 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNA79 deafness, autosomal dominant 79 hearing loss, autosomal dominant 79 MONDO:0033669 NS13 Noonan syndrome 13 MONDO:0033670 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB116 deafness, autosomal recessive 116 hearing loss, autosomal recessive 116 MONDO:0033671 SPGF45 spermatogenic failure 45 MONDO:0033672 Duane anomaly-myopathy-scoliosis syndrome is characterised by the association of bilateral Duane anomaly type 3, severe scoliosis of early onset, congenital myopathy with hypotonia without muscular weakness, delayed motor development, and short stature. It has been described in one pair of sibs. The Duane type 3 anomaly consists of eye abduction and adduction palsy, globe retraction and narrowing of the palpebral fissure. Muscular biopsy shows aspecific myopathy. Intellectual development is normal. The syndrome is most likely inherited in an autosomal recessive manner. It differs from the Crisfield-Dretakis-Sharpe syndrome, in which short stature and muscular features are absent. Surgery of the scoliosis is necessary. Functional prognosis depends on the severity of the visual handicap. Duane anomaly-myopathy-scoliosis syndrome MONDO:0033673 SPGF46 spermatogenic failure 46 MONDO:0033682 skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome MONDO:0033683 https://github.com/monarch-initiative/mondo/issues/4069 MYSM1 deficiency congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome MONDO:0033717 A rare hereditary ataxia characterized by delayed motor milestones in early infancy, hypotonia, ataxic gait, intention tremor, nystagmus, dysarthric speech, and variable learning difficulties. Neuroimaging shows a mixed picture of cerebellar hypoplasia and degeneration, with an almost absent inferior lobule and thinning of the folia of the vermis. In addition, cisterna magna and fourth ventricle are enlarged with relative sparing of the brain stem volume. congenital cerebellar ataxia due to RNU12 mutation MONDO:0033809 isolated blepharochalasis MONDO:0033810 isolated iridoschisis MONDO:0033816 An insidious, chronic and recurrent disorder, characterized by small and elevated oval corneal intraepithelial, whitish-gray opacities, extending to the entire anterior surface of the cornea of both eyes. Corneal lesions show a tendency for the central pupillary area distribution with mild or absent conjunctival inflammation and no association to systemic disease. thygeson superficial punctate keratopathy MONDO:0033818 A distinct marginal thinning of the cornea which causes high degree of against-the-rule astigmatism Terrien's marginal degeneration Terrien marginal degeneration MONDO:0033821 fungal keratitis MONDO:0033838 radiation-induced plexopathy MONDO:0033839 osteoradionecrosis of the mandible MONDO:0033850 autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect MONDO:0033853 https://github.com/monarch-initiative/mondo/issues/4069 congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome MONDO:0033856 A rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men. This is an n-of-1 use case where only one patient or family has been described with this disorder. https://github.com/monarch-initiative/mondo/issues/3601 LAMA5-related multisystemic syndrome MONDO:0033862 primary autoimmune enteropathy MONDO:0033864 https://github.com/monarch-initiative/mondo/issues/4521 Baker-Gordon syndrome infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome MONDO:0033885 https://orcid.org/0000-0001-5208-3432 mitochondrial complex IV deficiency, nuclear-type MONDO:0033925 pediatric-onset Graves disease MONDO:0033926 prepubertal anorexia nervosa MONDO:0033938 https://github.com/monarch-initiative/mondo/issues/5537 Acute radiation sickness acute radiation syndrome MONDO:0033946 Forms of hereditary angioedema that occur due to mutations in the gene for complement C1 inhibitor protein. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein. https://github.com/monarch-initiative/mondo/issues/4521 angioedema, hereditary, 1 and 2 angioedema, hereditary, type 1/2 C1 esterase inhibitor, deficiency of HAE1 angioedema, hereditary, type 1 angioedema, hereditary, type 2 angioedema, hereditary, type I angioneurotic edema, hereditary hereditary angioedema with C1Inh deficiency MONDO:0033947 hereditary angioedema with normal C1Inh MONDO:0033948 acquired angioedema with C1Inh deficiency MONDO:0033954 monoclonal mast cell activation syndrome MONDO:0033968 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome MONDO:0033969 inflammatory bowel disease-recurrent sinopulmonary infections syndrome MONDO:0033980 RELA fusion-positive ependymoma MONDO:0034021 spondylodysplastic EDS spondylodysplastic Ehlers-Danlos syndrome MONDO:0034022 BTHLM2 Bethlem myopathy 2 Bethlem myopathy caused by mutation in COL12A1 Bethlem myopathy type 2 COL12A1 Bethlem myopathy EDS, myopathic type Ehlers-Danlos syndrome, myopathic type myopathic EDS myopathic Ehlers-Danlos syndrome Bethlem myopathy 2 MONDO:0034024 A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP14 (formerly FKBP22), and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype. https://github.com/monarch-initiative/mondo/issues/4918 EDS VI kyphoscoliotic EDS kyphoscoliotic Ehlers-Danlos syndrome MONDO:0034041 A rare, congenital, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia. https://github.com/monarch-initiative/mondo/issues/4069 congenital axonal neuropathy with encephalopathy MONDO:0034054 https://github.com/monarch-initiative/mondo/issues/4521 lymphoproliferative syndrome 3 severe combined immunodeficiency due to CD70 deficiency MONDO:0034092 optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome MONDO:0034099 A rare genetic developmental and epileptic encephalopathy (DEE) characterized by developmental delay, generalized epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD). SYNGAP1-related developmental and epileptic encephalopathy MONDO:0034103 infection-related hemolytic uremic syndrome MONDO:0034106 https://github.com/monarch-initiative/mondo/issues/4521 DEE73 developmental and epileptic encephalopathy 73 epileptic encephalopathy, early infantile, 73 rnf13-related severe early-onset epileptic encephalopathy developmental and epileptic encephalopathy, 73 MONDO:0034109 https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 myopathy, congenital, with fast-twitch (type II) fiber atrophy congenital myopathy with reduced type 2 muscle fibers MONDO:0034110 atypical Fanconi syndrome-neonatal hyperinsulinism syndrome MONDO:0034121 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 PEBEL2 NAD(P)HX dehydratase deficiency MONDO:0034127 IgA pemphigus MONDO:0034142 pancreatic agenesis-holoprosencephaly syndrome MONDO:0034143 early-onset calcifying leukoencephalopathy-skeletal dysplasia MONDO:0034145 Cataracts, Early-Onset, With Skeletal and Dental Anomalies OCSKD oculoskeletodental syndrome oculocerebrodental syndrome MONDO:0034146 spastic ataxia-dysarthria due to glutaminase deficiency MONDO:0034147 neonatal epileptic encephalopathy due to glutaminase deficiency MONDO:0034150 idiopathic gastroparesis MONDO:0034186 autosomal recessive extra-oral halitosis MONDO:0034189 primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome MONDO:0034204 https://github.com/monarch-initiative/mondo/issues/4069 syndromic congenital sodium diarrhea MONDO:0034212 methotrexate toxicity MONDO:0034216 resistance to thyroid hormone alpha resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha MONDO:0034217 resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta MONDO:0034556 Vibratory angioedema is a rare, inherited or sporadic, urticaria characterized by localized, typically long-lasting (hours to days), initially pruritic, painful, normocutaneous or erythematous, mucosal and/or cutaneous edema which is triggered by vibration. Laryngeal snoring-induced swelling may be life-threatening. vibratory angioedema MONDO:0034661 syndromic biliary atresia MONDO:0034669 non-syndromic preaxial polydactyly MONDO:0034670 non-syndromic postaxial polydactyly MONDO:0034671 non-syndromic complex polydactyly MONDO:0034676 A rare overgrowth syndrome with skeletal involvement characterized by long and slim body habitus and multiple skeletal manifestations, such as scoliosis, macrodactyly of the big toes, arachnodactyly of fingers and toes, camptodactyly and clinodactyly, and progressive valgus deformities of the feet. Epimetaphyseal dysplasia, bowing of the tibiae, and dysmorphic facial features (hypertelorism, high palate, or micrognathia), as well as aortic root dilatation and umbilical hernia have also been reported. https://github.com/monarch-initiative/mondo/issues/4948 overgrowth syndrome with 2q37 translocation MONDO:0034820 A rare genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability characterized by unilateral or bilateral cleft lip and palate and craniofacial dysmorphism (including frontal bossing, hypertelorism, broad flat nasal bridge, cupped ears/thickened helices, and micrognathia). Additional manifestations are variable congenital cardiac anomalies, pectus excavatum, abnormalities of the hands and feet, ocular abnormalities (myopia, cataract, staphyloma), and conductive or sensorineural hearing loss. cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome hyaluronidase 2 deficiency cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome MONDO:0034823 A rare ciliopathy characterized by oral anomalies (multiple oral frenula, missing incisors), facial dysmorphism (such as square face with small forehead, upslanting palpebral fissures, and cleft lip, among other features), digital anomalies (brachydactyly, brachymesophalangy, polydactyly), and short stature. Additional reported manifestations include short femoral neck, bilateral cervical ribs, abnormal vertebral bodies, and gracile long bones. OFD18 oral-facial-digital syndrome type 18 orofaciodigital syndrome type 18 oral-facial-digital syndrome with short stature and brachymesophalangy MONDO:0034846 A rare intestinal disease characterized by congenital partial or complete lack of the collagen mesh network in the intestinal wall, resulting in hypoperistalsis or aperistalsis. The enteric nervous system is normal or near-normal in the affected areas, although hypo- and dysganglionosis may be found in some proximal segments of the colon and/or small bowel. Patients present with chronic intractable slow transit constipation. primary desmosis coli MONDO:0034872 large granular lymphocyte leukemia MONDO:0034895 A rare syndromic esophageal malformation characterized by severe congenital brachyesophagus with midline diaphragmatic hernia and secondary intrathoracic stomach, and vertebral anomalies (in particular rachischisis of the cervical/thoracic spine). Additional reported manifestations include intrauterine growth restriction, short neck, intestinal malrotation, herniation of other abdominal organs, and cleft lip, among others. The condition is mostly fatal in the neonatal or early infantile period. serpentine-like syndrome congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome MONDO:0034901 ATP13A2-related parkinsonism MONDO:0034954 syndromic vitreoretinopathy MONDO:0034971 A rare eyelid malposition disorder characterized by congenital abnormal inversion of the eyelid towards the globe, potentially causing mechanical irritation of the ocular surface by the eyelashes, which may lead to corneal abrasion and scarring with visual impairment. Typical initial symptoms are foreign body sensation, redness, tearing, and ocular discharge. isolated congenital entropion MONDO:0034976 iatrogenic Creutzfeldt-Jakob disease MONDO:0034978 A rare macular disorder characterized mostly by a variable degree of decreased visual acuity, jerk or pendular nystagmus, and typical ocular findings at imaging. The disease is usually bilateral. Rarely, nystagmus can be absent. Locally, the disease is characterized by underdeveloped foveal pit, absence of foveal pigmentation and/or foveal avascular zone, and persistence of inner retinal layers at the fovea, in absence of concomitant ocular or systemic pathology. isolated foveal hypoplasia MONDO:0034987 intraductal tubulopapillary neoplasm of pancreas MONDO:0034989 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine and postnatal growth restriction, global developmental delay, intellectual disability, and dysmorphic facial features (such as broad nasal root, anteverted nares, long philtrum, low-set and posteriorly rotated ears, and short neck). Additional reported manifestations are microcephaly, short stature, vertebral abnormalities, joint laxity, ocular, cardiac, and renal defects, and minor limb anomalies. Brain imaging may show hypoplastic corpus callosum, delayed myelination, and cerebral atrophy. intellectual disability-cardiac anomalies-short stature-joint laxity syndrome MONDO:0034991 A rare genetic disease characterized by the presence of multiple café-au-lait macules and elevated rates of sister chromatid exchange demonstrated on cytogenetic testing. Pre- and postnatal growth deficiency with short stature, microcephaly, mild developmental delay, cardiomyopathy, and symptomatic gastro-esophageal reflux have also been described, while malar rash is typically absent. intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome MONDO:0035002 isolated inherited retinal disorder MONDO:0035004 https://github.com/monarch-initiative/mondo/issues/5588 serine biosynthesis pathway deficiency, infantile/juvenile form MONDO:0035008 isolated splenic vein thrombosis MONDO:0035009 isolated mesenteric vein thrombosis MONDO:0035014 primary orthostatic disorder MONDO:0035018 A rare syndromic frontonasal dysplasia characterized by distinctive facial dysmorphic features including hypertelorism, almond-shaped palpebral fissures, nasal deformity with creased ridge, depressed or absent tip, and asymmetry and partial absence of nasal bones, and downturned corners of the mouth. Additional reported manifestations are limb anomalies (e. g. Poland anomaly, transverse limb agenesis, and anomalies of the hands and feet, such as camptodactyly, oligodactyly, clinodactyly, and syndactyly), frontonasal encephalocele, choanal atresia, congenital renal/cardiac malformations, and corpus callosum agenesis. frontonasal dysplasia-bifid nose-upper limb anomalies syndrome MONDO:0035027 microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome MONDO:0035075 secondary early-onset glaucoma of genetic origin MONDO:0035105 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported. diaphragmatic hernia-short bowel-asplenia syndrome MONDO:0035112 AML with BCR-ABL1 AML with t(9;22)(q34.1;q11.2) acute myeloid leukemia with t(9;22)(q34.1;q11.2) acute myeloid leukemia with BCR-ABL1 MONDO:0035117 PUM1-associated developmental disability-ataxia-seizure syndrome MONDO:0035121 myeloid/lymphoid neoplasms with PCM1-JAK2 myeloid/lymphoid neoplasm associated with JAK2 rearrangement MONDO:0035122 https://github.com/monarch-initiative/mondo/issues/5588 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder MONDO:0035124 linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies MONDO:0035133 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4803 https://github.com/monarch-initiative/mondo/issues/5588 Chung-Jansen syndrome developmental delay, intellectual disability, obesity, and dysmorphic features DIDOD PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome MONDO:0035136 isolated melanotic schwannoma MONDO:0035149 Secondary erythermalgia secondary erythromelalgia MONDO:0035151 A rare, genetic, multiple congenital anomalies/dysmorphic features-intellectual disability syndrome characterized by developmental and speech delay, intellectual disability, feeding difficulties, failure to thrive, growth retardation, and associated malformations such as abnormality of fingers and toes (i.e. clinodactyly of the 5th finger, 2-3 toe syndactyly), microcephaly, heart defects, and upper airways anomalies. Observed facial dysmorphism includes hypertelorism, small, narrow or downslanting palpebral fissures, ptosis, epicanthus, ear malformations, broad nasal bridge, bulbous/prominent nose, short philtrum, thin lips, retrognathia/micrognathia, arched/cleft palate, and dental anomalies. Additional variable manifestations include hearing and visual impairment, seizures, joint anomalies, obesity, and behavioral/psychiatric disorders. Del(17)(q24) 17q24.2 microdeletion syndrome MONDO:0035153 Acephalic spermatozoa syndrome male infertility due to acephalic spermatozoa MONDO:0035159 A rare congenital tumor characterized by a benign cyst with epithelial and epidermoid components, originating from embryologic displacement and ectopic growth of ectodermal tissue in the central nervous system. In contrast to epidermoid cysts, dermoid cysts also contain dermis and skin appendages. Most common location is the lumbosacral region, as well as the cerebellopontine angle and parasellar area for intracranial lesions. Clinical presentation depends on the location and size of the tumor and includes pain, muscle weakness, motor and sensory disturbances, and incontinence for intraspinal lesions, and intracranial hypertension, gait disturbances, cranial nerve dysfunction, and visual deficits for intracranial tumors. The cysts may rupture and cause chemical meningitis. Dermoid or epidermoid cyst of the CNS dermoid or epidermoid cyst of the central nervous system MONDO:0035160 early onset familial encephalopathy with neuroserpin inclusion bodies progressive myoclonic epilepsy with neuroserpin inclusion bodies MONDO:0035161 late-onset familial encephalopathy with neuroserpin inclusion bodies progressive dementia with neuroserpin inclusion bodies MONDO:0035162 PROS PIK3CA-related overgrowth syndrome MONDO:0035173 A rare, genetic, intellectual disability malformation syndrome characterized by global developmental delay, intellectual disability, delayed speech and language development, epilepsy, autistic behavior, and moderate facial dysmorphism (including elongated face, narrow forehead, arched eyebrows, horizontal palpebral fissures, hypertelorism, epicanthus, midface flattening, short nose, long and featureless philtrum, thin upper lip, macrostomia, and prominent chin). Additional variable manifestations include microcephaly, hypotonia, hypertrichosis, and strabismus. 9q21.13 microdeletion syndrome MONDO:0035220 PLG-related HAE with normal C1 inhibitor PLG-related hereditary angioedema with normal C1inh MONDO:0035235 A rare subtype of pyoderma gangrenosum disease characterized by rapidly progressive, single or multiple, painful, aseptic ulcers which present overhanging, violaceous and undermined borders, surrounding induration and erythema, and granulation tissue (occasionally necrotic tissue and/or a purulent exudate) at the base, mainly affecting the legs (but other body surfaces may also be involved), leading to chronic ulcerations and often regressing with cribriform mutilating scars. The disease presents a chronic relapsing course and systemic features (e.g. fever, malaise, arthralgia, myalgia) may be associated. Ulcerative pyoderma gangrenosum classic pyoderma gangrenosum MONDO:0035236 A rare subtype of pyoderma gangrenosum characterized by multiple painful, sterile pustules with a surrounding erythematous halo, predominantly occurring on the trunk and extensor surfaces of the limbs, and potentially persisting for months. Histopathology shows a dermal neutrophilic infiltrate and subcorneal neutrophilic micropustules. The condition is commonly associated with inflammatory bowel disease. pustular pyoderma gangrenosum MONDO:0035237 A rare subtype of pyoderma gangrenosum disease characterized by grouped vesicles that rapidly spread and coalesce to form large bullae, which evolve into ulcerations that have an erythematous peripheral halo and central necrosis, mainly affecting the upper limbs and face. Lymphoproliferative diseases are frequently associated, thus prognosis is often compromised. Phemphigoid pyoderma gangrenosum bullous pyoderma gangrenosum MONDO:0035238 A rare subtype of pyoderma gangrenosum disease characterized by a solitary, erythematous, ulcerated plaque, which lacks the violaceous border typically present in classic pyoderma gangrenosum, usually affecting individuals who are otherwise healthy. Histologically, the lesion presents a central layer containing neutrophilic inflamation, surrounded by a palisade of histiocytes, which are rimmed by a lymphocytic infiltrate. In comparison with the other variants of pyoderma gangrenosum, this subtype usually shows a good response to less aggressive treatments and underlying systemic disorders are less frequently associated. It is considered the most benign and uncommon clinical variant of pyoderma gangrenosum. Granulomatous pyoderma gangrenosum vegetative pyoderma gangrenosum MONDO:0035290 Atypical HUS with complement gene abnormality aHUS with complement gene abnormality atypical hemolytic uremic syndrome with complement gene abnormality MONDO:0035293 S. pneumoniae-associated HUS SP-HUS streptococcus pneumoniae-associated hemolytic uremic syndrome MONDO:0035295 congenital primary megaureter, refluxing and obstructed form MONDO:0035312 A subtype of inflammatory pseudotumor of the liver characterized by a benign, well-circumscribed tumor with fibrohistiocytic infiltration (including xanthogranulomatous inflammation, multinucleated giant cells, and neutrophilic infiltration), typically localized in the peripheral hepatic parenchyma. Presentation may be of non-specific symptoms (fever, malaise, and abdominal pain) or as an incidental finding. fibrohistiocytic inflammatory pseudotumor of the liver MONDO:0035313 A subtype of inflammatory pseudotumor of the liver characterized by a benign, well-circumscribed tumor with diffuse lymphoplasmacytic infiltration with histological features of IgG4-related disease (numerous IgG4-positive plasma cells, prominent eosinophils, stromal fibrosis, fibroblastic proliferations and, frequently, obliterative phlebitis), and that is likely located around the hepatic hilum. Most often it is discovered as an incidental finding. IgG4-related inflammatory pseudotumor of the liver lymphoplasmacytic inflammatory pseudotumor of the liver MONDO:0035320 A rare type of familial hypoaldosteronism characterized by early infantile onset of vomiting, diarrhea, severe dehydration, and failure to thrive. Analysis of plasma electrolytes shows hyponatremia, hyperkalemia, and acidosis. Plasma renin activity is elevated, and aldosterone levels are low. Early-onset familial hyperreninemic hypoaldosteronism Severe aldosterone synthase deficiency early-onset familial hypoaldosteronism MONDO:0035321 A rare form of familial hypoaldosteronism characterized by adult onset of subnormal plasma aldosterone with elevated plasma renin activity, hyperkalemia, metabolic acidosis, and hypotension. Signs and symptoms are typically mild, and affected individuals may be clinically asymptomatic and diagnosed only after biochemical screening. Late-onset familial hyperreninemic hypoaldosteronism Mild aldosterone synthase deficiency late-onset familial hypoaldosteronism MONDO:0035337 A rare neurologic disease characterized by the presence of Duane retraction syndrome (i. e. a congenital cranial dysinnervation disorder with unilateral or bilateral limitation of abduction and/or adduction of the eye, as well as globe retraction and palpebral fissure narrowing on attempted adduction) in combination with congenital unilateral or bilateral hearing loss. The sidedness of hearing loss corresponds to the sidedness of the retraction syndrome. DRS with deafness DRS with hearing loss DURS with deafness DURS with hearing loss Duane retraction syndrome with congenital hearing loss Duane retraction syndrome with congenital deafness MONDO:0035344 A rare neurologic disease characterized by lethargy, hypotonia, poor feeding, opisthotonus, and a typical high-pitched cry due to bilirubin accumulation in the globus pallidus, sub-thalamic nuclei, and other brain regions, resulting from severe neonatal unconjugated hyperbilirubinemia. Onset of symptoms is typically within the first three to five days of life. Additional features include fever, apnea, seizures, and coma. Especially respiratory failure or refractory seizures may lead to a fatal outcome. ABE Acute kernicterus acute bilirubin encephalopathy MONDO:0035345 A rare neurologic disease characterized by the chronic consequences of bilirubin toxicity in the globus pallidus, sub-thalamic nuclei, and other brain regions, after exposure to high levels of unconjugated bilirubin in the neonatal period. Symptoms begin after the acute phase of bilirubin encephalopathy in the first year of life, evolve slowly over several years, and include mild to severe extrapyramidal disturbances (especially dystonia and athetosis), auditory neuropathy spectrum disorder, and oculomotor and dental abnormalities. BIND Bilirubin-induced neurological dysfunction CBE KSD Kernicterus spectrum disorder chronic bilirubin encephalopathy MONDO:0035349 A localized form of dystrophic epidermolysis bullosa characterized by blisters confined primarily to the hands and feet (acral form) or to the pretibial region (pretibial form). Nail dystrophy or loss is common and may be an isolated finding (nail only form). This disease can be inherited via autosomal dominant or autosomal recessive inheritance. localized DEB localized dystrophic epidermolysis bullosa MONDO:0035350 letrozole toxicity MONDO:0035357 PSVD portosinusoidal vascular disease MONDO:0035362 Any inflammatory bowel disease in which the cause of the disease is a mutation in the TRIM22 gene. https://github.com/monarch-initiative/mondo/issues/3540 TRIM22-related IBD This was considered for obsoletion but upon further review it seems like a valid disease. TRIM22-related inflammatory bowel disease MONDO:0035370 Any inflammatory bowel disease in which the cause of the disease is a mutation in the ALPI gene. https://github.com/monarch-initiative/mondo/issues/3543 ALPI-related inflammatory bowel disease MONDO:0035375 MIS-C/A multisystem inflammatory syndrome in children and adults MONDO:0035383 A rare genetic neurological disorder characterized by early onset of microcephaly, severe global developmental delay and cognitive impairment, dyskinesia and hyperkinetic movements, visual impairment, autistic behavior, stereotypies, sleep disturbance, epilepsy, and cerebral malformations (such as corpus callosum hypogenesis, forebrain anomaly, and delayed myelination). Speech is minimal or absent, and ambulation is not attained. Patients with a larger 14q12 microdeletion show a more severe phenotype than those with intragenic alterations, with the addition of facial dysmorphism and agenesis of the corpus callosum. FOXG1-related epileptic-dyskinetic encephalopathy FOXG1 syndrome MONDO:0035400 A form of autoimmune hepatitis characterized by the features of classic autoimmune hepatitis (i. e. clinical presentation as acute or chronic cryptogenic hepatitis, interface hepatitis on histological examination, elevated serum aspartate aminotransferase and alanine aminotransferase levels, hypergammaglobulinemia/elevated immunoglobulin G, therapeutic response to corticosteroids) in the absence of serum autoantibodies. Clinical manifestations include fatigue, malaise, arthralgia, jaundice, at later stages also signs of advanced chronic liver disease, such as spider nevi, caput medusae, splenomegaly, ascites, and palmar erythema. Presence of concurrent autoimmune diseases is frequently observed. Seronegative AIH autoantibody-negative autoimmune hepatitis seronegative autoimmune hepatitis MONDO:0035401 isolated anencephaly MONDO:0035402 isolated exencephaly MONDO:0035403 Serous cystadenoma of ovary in childhood serous cystadenoma of childhood MONDO:0035404 Mucinous cystadenoma of ovary in childhood mucinous cystadenoma of childhood MONDO:0035405 Seromucinous cystadenoma of ovary in childhood seromucinous cystadenoma of childhood MONDO:0035406 furunculoid myiasis due to Dermatobia hominis furunculous myiasis due to Dermatobia hominis furuncular myiasis due to Dermatobia hominis MONDO:0035407 furunculoid myiasis due to Cordylobia anthropophaga furunculous myiasis due to Cordylobia anthropophaga furuncular myiasis due to Cordylobia anthropophaga MONDO:0035408 furunculoid myiasis due to Cordylobia rodhaini furunculous myiasis due to Cordylobia rodhaini furuncular myiasis due to Cordylobia rodhaini MONDO:0035410 isolated congenital aglossia MONDO:0035411 isolated congenital hypoglossia MONDO:0035423 Neutral lipid storage disease with severe cardiovascular involvement TGCV triglyceride deposit cardiomyovasculopathy MONDO:0035432 LGMD type R24 POMGNT2-related LGMD R24 POMGNT2-related muscular dystrophy limb-girdle muscular dystrophy type R24 POMGNT2-related limb-girdle muscular dystrophy R24 MONDO:0035433 LGMD type D4 LGMD1I calpain-3-related LGMD D4 limb-girdle muscular dystrophy type D4 calpain-3-related limb-girdle muscular dystrophy D4 MONDO:0035437 A rare genetic autoinflammatory syndrome with immune deficiency characterized by a combination of autoinflammation, immunodeficiency, and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present recurrent attacks of abdominal pain, high fever, and systemic inflammation lasting four to five days and occurring every few weeks. Attacks may be accompanied by nailbed, tongue, submandibular, and gluteal abscesses, intra-abdominal granulomas, pyoderma gangrenosum, and buccal ulcerations. Frequent episodes of purulent paronychia, superficial skin and mucosal infections, and purulent upper respiratory tract infections have also been reported. CAIN CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome MONDO:0035441 A rare isolated constitutional thrombocytopenia characterized by neonatal onset of small-platelet thrombocytopenia with significantly increased bleeding tendency. Bleeding symptoms include petechial rash, mucosal bleeding, and heavy menstrual bleeding. Growth and development are normal, and there is no increased susceptibility to infections. CARST congenital autosomal recessive small-platelet thrombocytopenia MONDO:0035444 A rare systemic mastocytosis characterized by the presence of at least 20% usually immature and atypical mast cells in bone marrow aspirate smears. In classic mast cell leukemia, mast cells account for at least 10% of peripheral white blood cells, although the aleukemic variant with less than 10% mast cells is more common. C-findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption), indicative of organ damage due to mast cell infiltration, are usually present at diagnosis, while skin lesions are absent in most cases. Prognosis is generally poor. Acute MCL acute mast cell leukemia MONDO:0035445 A rare form of mast cell leukemia characterized by the presence of at least 20% mast cells in bone marrow aspirate smears but often mature mast cell morphology, low proliferation rate, and absence of organ damage and C findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption). The disease course is less aggressive than in the acute form, although patients may later progress. Chronic MCL chronic mast cell leukemia MONDO:0035447 A rare neoplastic disease characterized by the presence of ten or more hepatocellular adenomas in a background of normal appearing hepatic parenchyma. The majority of reported cases are female. There is no association with steroid use. The condition is considered benign, although the risk of complications (such as malignant transformation or spontaneous rupture with intraperitoneal hemorrhage) is much higher than in isolated hepatic adenoma. Hepatocellular carcinoma develops in less than 10% of cases. Hepatic adenomatosis liver adenomatosis MONDO:0035449 atelencephalic microcephaly atelencephaly MONDO:0035450 aprosencephaly MONDO:0035452 A rare bone disease characterized by spontaneous adult-onset tarsal navicular osteonecrosis. Patients present with chronic mid- and hindfoot pain, swelling and tenderness over the dorsomedial aspect of the midfoot, flattening of the medial longitudinal arch, and pes planovarus. Radiographic findings include comma-shaped deformity due to collapse of the lateral part of the navicular bone and medial or dorsal protrusion of a portion or the entire bone. The condition may be bilateral or asymmetric and associated with pathological fractures. Brailsford disease Mueller-Weiss osteonecrosis of the tarsal bone mueller-weiss syndrome MONDO:0035454 BILU syndrome Hoffman syndrome B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome MONDO:0035459 idiopathic multidrug-resistant nephrotic syndrome MONDO:0035460 idiopathic steroid-resistant nephrotic syndrome with sensitivity to intensified immunosuppression idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy MONDO:0035472 A rare genetic primary lymphedema characterized by lymphedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association. GJC2-related late-onset primary lymphedema MONDO:0035473 A rare primary lymphedema characterized by extensive, multisegmental lymphedema, associated with persistent, widespread infections with various genital high- and low-risk human papillomaviruses, resulting in multifocal anogenital dysplasia. Laboratory examination shows abnormalities in lymphocyte subsets, in particular CD4+ T-cells. Epidermal nevi and capillary malformations have also been reported. WILD syndrome disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome MONDO:0035474 A rare genetic primary lymphedema characterized by uniform, widespread lymphedema, often with systemic involvement such as intestinal and pulmonary lymphangiectasia, pleural and pericardial effusions, and chylothorax. There is a high incidence of non-immune hydrops fetalis, which may result in fetal demise or fully resolve after birth. Severe, recurrent facial cellulitis is observed in some patients. Presence of epicanthic folds or micrognathia has occasionally been reported, while intelligence is normal, and seizures are absent. PIEZO1-related LRHF/GLD PIEZO1-related generalized lymphatic dysplasia with systemic involvement PIEZO1-related lymphatic-related hydrops fetalis generalized lymphatic dysplasia of Fotiou PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis MONDO:0035475 A rare primary lymphedema characterized by a highly variable lymphatic phenotype ranging from severe lymphatic-related hydrops fetalis, which may cause perinatal demise or fully resolve to become completely asymptomatic, to a mild presentation in older patients with persistent varicose veins, peripheral edema, and impaired lymph drainage in the lower limbs. Atrial septal defect has been described in association and may be the only anomaly in some patients. EPHB4-related LRHF/GLD EPHB4-related generalized lymphatic dysplasia with atrial septal defect EPHB4-related generalized lymphatic dysplasia with non-immune hydrops fetalis EPHB4-related lymphatic-related hydrops fetalis MONDO:0035499 A rare genetic primary lymphedema characterized by unilateral or bilateral lower limb lymphedema of variable severity. The condition shows almost complete penetrance with onset in childhood or adolescence in females, whereas in males it shows incomplete penetrance with later onset of disease. Lymphoscintigraphy in more severely affected individuals reveals lymphatic abnormalities consistent with lymphangiectasia, valve dysfunction, and thoracic duct reflux. CELSR1-related late-onset primary lymphedema MONDO:0035500 A rare primary lymphedema characterized by bilateral, painless lower limb swelling present at birth. Prominent veins around the ankles and on the dorsa of the feet, dysplastic and upslanting toenails due to edema of the nailbed, and subtle dysmorphic facial features (such as high forehead, hypertelorism, depressed nasal bridge, mild bilateral ear dysplasia, and short neck) have also been described. The degree of lymphatic impairment is milder than in the otherwise clinically similar Milroy disease, as evidenced by slightly less severe lymphedema and significantly more uptake of tracers on lymphoscintigraphy. VEGFC-related congenital primary lymphedema congenital primary lymphedema of Gordon MONDO:0035511 A rare disorder due to poisoning characterized by acute onset of potentially life-threatening illness following ingestion, inhalation, or injection of ricin, a lectin present in the seeds of <i>Ricinus communis</i>, the castor oil plant. Clinical presentation depends on the route of administration, inhalation being the most toxic route, followed by oral ingestion. Presenting signs and symptoms include nausea, vomiting, diarrhea, hematemesis, and melena (upon ingestion), cough, wheezing, dyspnea, sore throat, and congestion (upon inhalation), and erythema, induration, blisters, capillary leak syndrome, and localized necrosis (upon injection). The condition can progress to seizures, shock, organ failure, pulmonary edema, and respiratory failure. ricin poisoning MONDO:0035521 3q23 microdeletion syndrome BPES plus blepharophimosis-ptosis-epicanthus inversus syndrome plus MONDO:0035524 BPES type 1 blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian failure blepharophimosis-ptosis-epicanthus inversus syndrome type 1 MONDO:0035525 BPES type 2 blepharophimosis-ptosis-epicanthus inversus syndrome without premature ovarian failure blepharophimosis-ptosis-epicanthus inversus syndrome type 2 MONDO:0035529 A rare genetic respiratory disease characterized by infantile onset of pulmonary alveolar proteinosis with hypogammaglobulinemia. Patients have normal respiratory function at birth, but subsequently develop recurrent, mainly viral, infections and progressive respiratory failure, often leading to death in infancy or early childhood. Additional reported features include leukocytosis and splenomegaly. OAS1 deficiency OAS1-related infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia MONDO:0035534 A rare autosomal recessive microcephalic primordial dwarfism characterized by congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe. DONSON-related microcephaly-short stature-limb abnormalities spectrum MONDO:0035540 A rare neuroendocrine tumor arising from chromaffin cells of the adrenal medulla (pheochromocytoma) or from sympathetic and parasympathetic ganglia (paraganglioma). These tumors are most often benign and may produce catecholamines in excess causing hypertension and sometimes severe acute cardiovascular complications. pheochromocytoma-paraganglioma MONDO:0035547 predisposition to severe viral infection due to IRF7 deficiency MONDO:0035548 Autosomal recessive MSMD due to partial JAK1 deficiency autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency MONDO:0035551 A rare genetic cerebral small vessel disease characterized by an adult-onset primary microangiopathy with severe atherosclerosis of arterioles and secondary leukoencephalopathy. Patients may present with migraine, transient ischemic attacks, stroke with central facial palsy, cognitive dysfunction with impaired concentration, dementia, depression, movement disorder, vertigo, dysphagia, dysarthria, sicca syndrome, impaired REM sleep, and therapy-resistant hypertension, among others. Brain MRI typically shows a leukoencephalopathy that is disproportionately severe and extensive compared to the clinical disease. CARASAL cathepsin a-related arteriopathy-strokes-leukoencephalopathy MONDO:0035561 idiopathic human prion disease sporadic human prion disease MONDO:0035562 infectious human prion disease acquired human prion disease MONDO:0035584 A rare ophthalmic disorder characterized by typically bilateral, asymmetric, yellowish, punctate chorioretinal lesions of the posterior pole forming a linear branching pattern and progressing to atrophic scars. Subretinal neovascular membranes occur in many cases. Vitritis is always absent. Patients may present with blurred vision, scotoma, floaters, photopsia, and metamorphopsia. Choroidal neovascular membrane formation and subretinal fibrosis are the major causes of visual loss. The condition predominantly occurs in young myopic females. punctate inner choroidopathy MONDO:0035586 Cramp-fasciculation syndrome MONDO:0035592 CIL-F facial infused lipomatosis fibroadipose infiltrating lipomatosis congenital infiltrating lipomatosis of the face MONDO:0035605 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality MONDO:0035614 A rare sporadic human prion disease characterized by adult onset of progredient neurodegeneration presenting as a combination of psychiatric, sleep, and oculomotor disturbances, with development of progressive cognitive impairment (the predominantly affected cognitive domains being memory, temporal and/or spatial orientation, language, executive functions, and attention), postural instability, and sometimes additional motor abnormalities and autonomic hyperactivity, in the course of the disease. Bilateral thalamic hypometabolism on FDG-PET imaging and positive prion seeding activity in the cerebrospinal fluid are present in many cases. The disease is fatal within typically two to three years. sporadic fatal insomnia MONDO:0035639 MPAL with t(9;22)(q34.1;q11.2); BCR-ABL1 mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) MONDO:0035642 MPAL with t(v;11q23.3); KMT2A rearranged MPAL with t(v;11q23.3); MLL rearranged mixed phenotype acute leukemia with t(v;11q23.3) MONDO:0035645 inherited gynecological cancer-predisposing syndrome MONDO:0035646 Congenital-onset Steinert disease Congenital-onset myotonic dystrophy type 1 congenital-onset Steinert myotonic dystrophy MONDO:0035647 Childhood-onset Steinert disease Childhood-onset myotonic dystrophy type 1 childhood-onset Steinert myotonic dystrophy MONDO:0035648 Juvenile-onset Steinert disease Juvenile-onset myotonic dystrophy type 1 juvenile-onset Steinert myotonic dystrophy MONDO:0035649 Adult-onset Steinert disease Adult-onset myotonic dystrophy type 1 adult-onset Steinert myotonic dystrophy MONDO:0035650 Late-onset Steinert disease Late-onset myotonic dystrophy type 1 late-onset Steinert myotonic dystrophy MONDO:0035651 KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome MONDO:0035660 GNAO1-related spectrum GNAO1-related developmental delay-seizures-movement disorder spectrum MONDO:0035661 A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay or regression, variable congenital heart defects (such as patent ductus arteriosus, atrial or ventricular septal defects, and double outlet right ventricle, among others), and dysmorphic features (including ptosis, epicanthal folds, abnormally set/dysplastic ears, low hairline or excess nuchal skin, wide-spaced/inverted nipples, umbilical hernia or diastasis recti, and digital anomalies). Additional variable manifestations are hyper- or hypotonia, seizures, hearing loss, cortical blindness, and optic atrophy. Brain imaging may show cerebral and cerebellar atrophy and hydrocephalus. TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome MONDO:0035663 NMOSD with anti-AQP4 antibodies Neuromyelitis optica spectrum disorder with anti-aquaporin 4 antibodies neuromyelitis optica spectrum disorder with anti-AQP4 antibodies MONDO:0035664 NMOSD with anti-MOG antibodies Neuromyelitis optica spectrum disorder with anti-myelin oligodendrocyte glycoprotein antibodies neuromyelitis optica spectrum disorder with anti-MOG antibodies MONDO:0035665 NMOSD without anti-MOG antibodies and without anti-AQP4 antibodies Neuromyelitis optica spectrum disorder without anti-Myelin oligodendrocyte glycoprotein and without anti-Aquaporin-4 antibodies neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies MONDO:0035666 Acute transverse myelitis with anti-myelin oligodendrocyte glycoprotein antibodies acute transverse myelitis with anti-MOG antibodies MONDO:0035667 Isolated optic neuritis without anti-myelin oligodendrocyte glycoprotein antibodies isolated optic neuritis without anti-MOG antibodies MONDO:0035668 Isolated optic neuritis with anti-myelin oligodendrocyte glycoprotein antibodies isolated optic neuritis with anti-MOG antibodies MONDO:0035669 ADEM with anti-MOG antibodies Acute disseminated encephalomyelitis with anti-myelin oligodendrocyte glycoprotein antibodies acute disseminated encephalomyelitis with anti-MOG antibodies MONDO:0035670 Acute disseminated encephalomyelitis without anti-myelin oligodendrocyte glycoprotein antibodies acute disseminated encephalomyelitis without anti-MOG antibodies MONDO:0035678 Classical Timothy syndrome with cutaneous syndactyly. https://github.com/monarch-initiative/mondo/issues/4746 LQT8 type 1 TS1 Timothy syndrome type 1 MONDO:0035679 Classical Timothy syndrome without cutaneous syndactyly. https://github.com/monarch-initiative/mondo/issues/4746 LQT8 type 2 TS2 Timothy syndrome type 2 MONDO:0035682 FD/MAS spectrum FD/MAS syndrome Fibrous dysplasia/McCune-Albright spectrum fibrous dysplasia/McCune-Albright syndrome MONDO:0035684 EBS without extracutaneous involvement epidermolysis bullosa simplex without extracutaneous involvement MONDO:0035685 EBS with extracutaneous involvement epidermolysis bullosa simplex with extracutaneous involvement MONDO:0035689 syndrome of reduced sensitivity to thyroid hormone MONDO:0035694 CID due to RELA haploinsufficiency combined immunodeficiency due to RELA haploinsufficiency MONDO:0035696 A histopathological form of portosinusoidal vascular disease characterized by the presence of incomplete, thin, perforated, or blind-ended septa, which intermittently delimit rudimentary nodules, although complete cirrhotic-type regenerative nodules are not seen. Isolated collagen bundles can also be observed within the parenchyma. Incomplete septal fibrosis incomplete septal cirrhosis MONDO:0035706 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome MONDO:0035707 blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome MONDO:0035713 FOXG1 syndrome due to intragenic alteration MONDO:0035734 hereditary angioedema with normal C1inh not related to F12 or PLG variant MONDO:0035735 An acquired form of hemophilia A, resulting in spontaneous bleeding in individuals with no history of bleeding disorders. It is believed to be caused by spontaneous inhibition of clotting factor VIII by autoantibodies, and is usually associated with other autoimmune conditions. AHA acquired hemophilia A MONDO:0035736 AHB acquired hemophilia B MONDO:0035737 acquired factor V deficiency MONDO:0035738 acquired factor VII deficiency MONDO:0035740 aFXI acquired factor XI deficiency MONDO:0035742 FV short isoforms-related bleeding disorder factor V short isoforms-related bleeding disorder MONDO:0035743 factor V amsterdam bleeding disorder MONDO:0035759 factor V atlanta bleeding disorder MONDO:0035763 Idiopathic non-lupus FHN idiopathic non-lupus full-house nephropathy MONDO:0035764 Idiopathic SSNS with secondary steroid resistance Secondary SRNS Secondary steroid-resistant nephrotic syndrome idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance MONDO:0035774 A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability and absence of expressive language. Muscular hypotonia, seizures, autistic behavior and stereotypic movements are common. NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance MONDO:0035775 CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome MONDO:0035776 combined deficiency of factor VII and factor X MONDO:0035777 A rare hepatic disease characterized by intrahepatic cholestasis and deterioration of liver function in patients receiving parenteral nutrition for extended periods of time (signs may appear as early as within the first two weeks of initiation of parenteral nutrition). The condition commonly occurs in neonates and usually resolves with transition to enteral feeding, although severe cases may progress to liver fibrosis, cirrhosis, and portal hypertension. PNAC parenteral nutrition-associated cholestasis MONDO:0035782 Non-syndromic ARM with rectobulbar fistula Non-syndromic ARM with rectourethral fistula, bulbar type Non-syndromic anorectal malformation with rectobulbar fistula non-syndromic anorectal malformation with rectourethral fistula, bulbar type MONDO:0035783 Non-syndromic ARM with rectoprostatic fistula Non-syndromic ARM with rectourethral fistula, prostatic type Non-syndromic anorectal malformation with rectoprostatic fistula non-syndromic anorectal malformation with rectourethral fistula, prostatic type MONDO:0035819 CIMDAG syndrome cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome MONDO:0035821 isolated female hypospadias MONDO:0035823 KLHL7-related BOS-like syndrome KLHL7-related Bohring-Opitz-like syndrome MONDO:0035824 KLHL7-related Crisponi-like syndrome KLHL7-related cold-induced sweating-like syndrome MONDO:0035826 Symptomatic form of X-linked myotubular myopathy in female carriers Symptomatic form of XLCNM in female carriers Symptomatic form of XLMTM in female carriers symptomatic form of X-linked centronuclear myopathy in female carriers MONDO:0035838 HHV-8-negative multicentric Castleman disease Human herpesvirus-8-negative multicentric Castleman disease idiopathic multicentric Castleman disease MONDO:0035875 ivermectin toxicity MONDO:0035876 belinostat toxicity or dose selection MONDO:0035879 Facial granuloma of Lever Granuloma of Lever granuloma faciale MONDO:0035882 CIUE chronic intervillositis of unknown etiology MONDO:0035892 A rare, acquired motor neuron disease characterized by a slowly progressive, unilateral, ascending or descending hemplegia, associated to unilateral or asymmetrical pyramidal signs and no sensory loss. It is a diagnosis of exclusion and contorversy exists regarding whether the presence of bulbar symptoms, sphincter disturbances, fasciculations or cognitive manifestations characterize the disease. Mills syndrome MONDO:0035930 3-phosphoserine phosphatase deficiency, prenatal form neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency MONDO:0035940 B-ALL with t(9;22)(q34.1;q11.2) BCR-ABL1-like B-ALL Philadelphia chromosome-like B-ALL B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) MONDO:0035941 B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged B lymphoblastic leukemia lymphoma with t(v;11q23); MLL rearranged B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) MONDO:0035942 B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) MONDO:0035943 B-lymphoblastic leukemia/lymphoma with hyperdiploidy MONDO:0035944 Hypodiploid ALL B-lymphoblastic leukemia/lymphoma with hypodiploidy MONDO:0035945 B lymphoblastic leukemia lymphoma with t(5;14)(q31;q32); IL3-IGH B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) MONDO:0036025 toxicity to dolutegravir MONDO:0036042 KAT6B-related disorder KAT6B-related multiple congenital anomalies syndrome MONDO:0036045 Euthyroid dystransthyretinemic hyperthyroxinemia euthyroid dysprealbuminemic hyperthyroxinemia MONDO:0036189 OGIN Syndrome oculogastrointestinal-neurodevelopmental syndrome MONDO:0036192 ENDOVE syndrome ENDOVES EN1-related dorsoventral syndrome MONDO:0036193 parkinsonism with polyneuropathy MONDO:0036212 Fatty acyl-CoA reductase 1 superactivity spastic paraparesis-cataracts-speech delay syndrome MONDO:0036217 lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation MONDO:0036218 Lethal 1p36.33 deletion syndrome lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster MONDO:0036482 retinitis pigmentosa 81 RP81 retinitis pigmentosa 81 MONDO:0036483 short-rib thoracic dysplasia 18 with polydactyly SRTD18 short-rib thoracic dysplasia 18 with polydactyly MONDO:0036484 Charcot-Marie-Tooth disease, dominant intermediate G CMTDIG Charcot-Marie-Tooth disease dominant intermediate G Charcot-Marie-Tooth disease, dominant intermediate G MONDO:0036501 A malignant neoplasm that does not respond to treatment. refractory cancer refractory malignant neoplasm resistant cancer clinical resistance refractory malignant neoplasm MONDO:0036511 A malignant neoplasm that affects the kidney and occurs in childhood. childhood kidney cancer childhood malignant kidney neoplasm childhood malignant kidney tumor childhood malignant renal neoplasm childhood malignant renal tumor kidney cancer of childhood pediatric kidney cancer childhood malignant kidney neoplasm MONDO:0036591 A benign or malignant (primary or metastatic) neoplasm affecting the adrenal cortex. (NCI05) adrenal cortex neoplasm adrenal cortex tumor adrenocortical neoplasm adrenocortical tumor neoplasm of adrenal cortex tumor of adrenal cortex adrenal cortex neoplasm MONDO:0036595 A benign or malignant sex cord-stromal tumor arising from the ovary. It is characterized by the presence of neoplastic Leydig cells. Signs and symptoms include hirsutism, menorrhagia and metrorrhagia. It may be associated with trisomy 8. Sertoli-Leydig cell tumor of ovary Sertoli-Leydig cell tumor of the ovary Sertoli-Leydig neoplasm of ovary Sertoli-Leydig neoplasm of the ovary androblastoma arrhenoblastoma ovarian Sertoli-Leydig cell neoplasm ovarian Sertoli-Leydig cell tumor ovarian Sertoli-Leydig cell tumor MONDO:0036688 A benign mesenchymal tumor arising from skeletal or cardiac muscle. Rhabdomyomatous neoplasm rhabdomyoma rhabdomyoma, benign rhabdomyoma MONDO:0036696 A benign or malignant neoplasm that affects the spleen. Representative examples include hemangioma, lymphoma, splenic involvement by leukemia, and angiosarcoma. neoplasm of spleen spleen tumor splenic neoplasm tumor of spleen spleen neoplasm MONDO:0036779 A benign or malignant neoplasm that affects the structures of the axilla. Representative examples include axillary lipoma, axillary lymph node lymphoma, and metastatic carcinoma to the axillary lymph nodes. axilla neoplasm axilla tumor axillary neoplasm neoplasm of axilla tumor of axilla axillary neoplasm MONDO:0036781 A non-metastasizing neoplasm that arises from the structures of the axilla. axillary neoplasm, benign benign axillary neoplasm benign axillary neoplasm MONDO:0036870 A benign or malignant neoplasm arising from the lymphatic vessels. lymph vessel neoplasm lymph vessel tumor lymphatic vessel neoplasm lymphatic vessel tumor neoplasm of lymph vessel neoplasm of lymphatic vessel neoplasm of the lymph vessel neoplasm of the lymphatic vessel tumor of lymph vessel tumor of lymphatic vessel tumor of the lymph vessel tumor of the lymphatic vessel lymphatic vessel neoplasm MONDO:0036915 A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of neoplastic epithelium that resembles the epithelium of the endocervix or gastrointestinal tract. It includes mucinous adenofibroma, mucinous cystadenofibroma, and mucinous cystadenoma. benign ovarian mucinous neoplasm benign ovarian mucinous tumor ovarian mucinous neoplasm, benign benign ovarian mucinous tumor MONDO:0036918 punctate acrokeratoderma freckle-like pigmentation MONDO:0036976 A neoplasm arising from the epithelial cells. It is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign epithelial neoplasms remain confined to the original site of growth and only rarely metastasize to other anatomic sites. benign epithelial neoplasm benign epithelial tumor benign epithelioma benign neoplasm of epithelium benign neoplasm of the epithelium benign tumor of epithelium benign tumor of the epithelium epithelial neoplasm, benign epithelioma, benign benign epithelial neoplasm MONDO:0036990 A Leydig cell tumor which does not recur or metastasize. Morphologically, there is no evidence of cellular atypia, increased mitotic activity, necrosis, or vascular invasion. Leydig cell tumor, benign adenoma, interstitial benign Leydig cell neoplasm benign Leydig cell tumor benign interstitial cell neoplasm benign interstitial cell tumor benign Leydig cell tumor MONDO:0037002 A benign, circumscribed fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It is characterized by the presence of epithelial structures which are arranged in clefts and by a hypercellular mesenchymal stroma which is organized in leaf-like structures. There is no evidence of cellular atypia or sarcomatous features. benign cystosarcoma phyllodes benign phyllodes neoplasm benign phyllodes tumor phyllodes tumor, benign benign phyllodes tumor MONDO:0037003 A phyllodes tumor with sarcomatous stroma. The sarcomatous component is usually of the fibrosarcomatous type. Liposarcomatous, chondrosarcomatous, osteosarcomatous, or rhabdomyosarcomatous differentiation may also occur in the stroma. It may recur and metastasize following surgical resection. The lung and skeleton are the anatomic sites most frequently involved by metastases. malignant cystosarcoma phyllodes malignant phyllodes neoplasm malignant phyllodes tumor phyllodes tumor, malignant malignant phyllodes tumor MONDO:0037105 A germ cell tumor that arises from the lung. lung germ cell neoplasm lung germ cell tumor lung germ cell tumor MONDO:0037149 X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome HSD10 deficiency, atypical type Syndromic X-linked intellectual disability type 10 HSD10 disease, atypical type MONDO:0037250 A neoplasm that arises from the testis during childhood. childhood neoplasm of testis childhood neoplasm of the testis childhood testicular neoplasm neoplasm of testis of childhood pediatric neoplasm of testis pediatric neoplasm of the testis pediatric testicular neoplasm testicular tumor, childhood childhood testicular neoplasm MONDO:0037251 congestive splenomegaly banti syndrome banti's spleen fibrocongestive splenomegaly congestive splenomegaly MONDO:0037252 An ovarian or testicular stromal tumor characterized by the presence of lipid-rich neoplastic spindle cells. In females, uterine bleeding is the most common symptom. A minority of post-menopausal women with thecoma have an associated endometrial adenocarcinoma or rarely a malignant mixed mullerian tumor or endometrial stromal sarcoma. Rare cases with nuclear atypia and mitotic activity may metastasize. In males, thecomas are rare and they usually present as slow growing, sometimes painful masses. Metastases have not been reported. thecoma thecoma MONDO:0037253 A stromal tumor that arises from the ovary and is characterized by the presence of cells that contain lipid and resemble theca cells. The vast majority of cases are benign. ovarian theca cell neoplasm ovarian theca cell tumor ovarian thecoma ovary thecoma theca cell neoplasm of ovary theca cell neoplasm of the ovary theca cell tumor of ovary theca cell tumor of the ovary thecoma of ovary thecoma of the ovary ovarian thecoma MONDO:0037254 transitional cell neoplasm transitional cell tumor transitional cell neoplasm MONDO:0037255 A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that, in well differentiated tumors, resemble the epithelial cells of the fallopian tube and, in poorly differentiated tumors, show anaplastic features. Approximately thirty to fifty percent of the tumors are bilateral. Grossly, the better differentiated tumors consist of cystic masses, usually unilocular, containing a clear but sometimes viscous fluid. Papillary formations are often present. The more malignant tumors tend to be solid and invasive, with areas of necrosis and hemorrhage. ovarian serous neoplasm ovarian serous tumor serous neoplasm of ovary serous neoplasm of the ovary serous tumor of ovary serous tumor of the ovary ovarian serous tumor MONDO:0037256 serous neoplasm serous neoplasm MONDO:0037398 A rare pulmonary disease characterized by primary or nonbacteremic pneumonia most frequently arising in an intensive care setting, or bacteremic pneumonia, which is typically associated with neutropenia. Chronic lower respiratory tract infection with development of episodes of pneumonia is common in patients with cystic fibrosis. Acute infections are potentially life-threatening. Patients present with fever, chills, dyspnea, cyanosis, productive cough, as well as signs of severe systemic toxicity. Alveolar hemorrhage, necrosis, and, eventually, cavity formation, are commonly seen. pneumonia caused by pseudomonas aeruginosa infection MONDO:0037735 A cancer that involves the sebaceous gland. cancer of sebaceous gland malignant neoplasm of sebaceous gland malignant neoplasm of the sebaceous gland malignant sebaceous gland neoplasm malignant sebaceous gland tumor malignant sebaceous neoplasm malignant sebaceous tumor malignant tumor of sebaceous gland malignant tumor of the sebaceous gland sebaceous gland cancer MONDO:0037736 A benign or malignant neoplasm that occurs in brain parenchymal tissue below the tentorium cerebelli. brain neoplasms, infratentorial infratentorial neoplasm infratentorial neoplasms infratentorial tumor infratentorial tumors neoplasms, infratentorial infratentorial neoplasm MONDO:0037737 A rare, usually benign fibroblastic neoplasm that arises from the peritoneum. It is characterized by the presence of prominent hemangiopericytoma-like vessels. peritoneal solitary fibrous tumor peritoneal solitary fibrous tumor MONDO:0037738 A cancer that involves the cauda equina. cancer of cauda equina malignant cauda equina neoplasm malignant neoplasm of cauda equina cauda equina cancer MONDO:0037739 A benign neoplasm that involves the cauda equina. benign neoplasm of cauda equina benign neoplasm of cauda equina MONDO:0037740 A metastasizing mesenchymal, non-meningothelial neoplasm that arises from the central nervous system. central nervous system mesenchymal non-meningothelial tumor, malignant malignant CNS soft tissue neoplasm malignant CNS soft tissue tumor malignant central nervous system mesenchymal non-meningothelial tumor malignant central nervous system mesenchymal, non-meningothelial neoplasm malignant central nervous system mesenchymal, non-meningothelial tumor malignant central nervous system soft tissue neoplasm malignant central nervous system soft tissue tumor malignant soft tissue neoplasm of CNS malignant soft tissue neoplasm of central nervous system malignant soft tissue neoplasm of the CNS malignant soft tissue neoplasm of the central nervous system malignant soft tissue tumor of CNS malignant soft tissue tumor of central nervous system malignant soft tissue tumor of the CNS malignant soft tissue tumor of the central nervous system soft tissue cancer of central nervous system soft tissue cancer of the central nervous system malignant central nervous system mesenchymal, non-meningothelial neoplasm MONDO:0037742 A category of mesenchymal gynecologic neoplasms. It includes endometrial stromal nodule, endometrioid stromal sarcoma, and undifferentiated sarcoma. Endometrial stromal nodule has been described in the uterine corpus only. Histologically, it is characterized by the lack of infiltration of the surrounding tissues. Endometrioid stromal sarcoma affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma. Undifferentiated sarcoma was previously also known as high grade endometrial stromal sarcoma. In 2014, high grade endometrial stromal sarcoma was reclassified and is currently considered a distinct and rare neoplasm that affects the uterine corpus only. It appears to have a prognosis that falls between low grade endometrial stromal sarcoma and undifferentiated sarcoma. The latter affects the uterine corpus and rarely the remainder of the anatomic sites. endometrioid stromal and related neoplasms endometrioid stromal and related tumors endometrioid stromal and related neoplasms MONDO:0037743 A malignant neoplasm that arises from the soft tissues of the mediastinum. malignant mediastinal mesenchymal tumor malignant mediastinal soft tissue neoplasm malignant mediastinal soft tissue tumor malignant soft tissue neoplasm of mediastinum malignant soft tissue neoplasm of the mediastinum malignant soft tissue tumor of mediastinum malignant soft tissue tumor of the mediastinum mediastinal mesenchymal tumor, malignant mediastinal soft tissue cancer MONDO:0037744 neoplasm of retromolar area tumor of retromolar area neoplasm of retromolar area MONDO:0037745 A soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle-shaped to round cells in a fibromyxoid stroma. Metaplastic bone formation may or may not be present. fibromyxoid neoplasm fibromyxoid tumor fibromyxoma fibromyxoma, benign fibromyxoid tumor MONDO:0037746 A malignant neoplasm that arises from the vagina and is characterized by the presence of an epithelial and a mesenchymal component. This category includes adenosarcoma, carcinosarcoma, and malignant mixed tumor resembling synovial sarcoma. malignant vaginal mixed epithelial and mesenchymal neoplasm malignant vaginal mixed epithelial and mesenchymal tumor malignant vaginal mixed epithelial and mesenchymal neoplasm MONDO:0037747 A injury that involves the vertebral column. injury of vertebral column vertebral column injury spinal injury MONDO:0037748 An elevated concentration of lipoproteins. hyperlipoproteinemia hyperlipoproteinemia MONDO:0037792 A disease that has its basis in the disruption of carbohydrate metabolic process. carbohydrate metabolic process disease disorder of carbohydrate metabolic process disorder of carbohydrate metabolism carbohydrate metabolism disease MONDO:0037807 A disease that has its basis in the disruption of glycerol metabolic process. disorder of glycerol metabolic process disorder of glycerol metabolism glycerol metabolic process disease glycerol metabolism disease MONDO:0037821 A disease that has its basis in the disruption of porphyrin-containing compound metabolic process. disorder of porphyrin metabolism disorder of porphyrin-containing compound metabolic process porphyrin-containing compound metabolic process disease disorder of porphyrin and heme metabolism porphyrin metabolism disease MONDO:0037829 A disease that has its basis in the disruption of purine nucleobase metabolic process. disorder of purine metabolism disorder of purine nucleobase metabolic process purine nucleobase metabolic process disease purine metabolism disease MONDO:0037847 A disease that involves the intervertebral joint. disease of intervertebral joint disease or disorder of intervertebral joint disorder of intervertebral joint disorder of joint of spine intervertebral joint disease intervertebral joint disease or disorder spondyloarthropathy vertebral joint disorder MONDO:0037858 A group of genetic disorders that result from the inability to produce or use an enzyme required to oxidize fatty acids, resulting in an inability to generate energy from fatty acid sources. disorder of fatty acid metabolism fatty acid metabolism disorder inherited fatty acid metabolism disorder disorder of fat oxidation disorders of fatty-acid metabolism inherited fatty acid metabolism disorder MONDO:0037870 A disease that has its basis in the disruption of valine metabolic process. disorder of valine metabolic process disorder of valine metabolism valine metabolic process disease valine metabolism disease MONDO:0037871 A disease that has its basis in the disruption of cellular amino acid metabolic process. amino acid metabolism disorder cellular amino acid metabolic process disease disorder of amino acid metabolism disorder of cellular amino acid metabolic process amino acid disorder amino acidopathy amino acid metabolism disease MONDO:0037872 Any disease caused by infection with organisms of the genus Bordetella. Bordetella caused disease or disorder Bordetella disease or disorder Bordetella infectious disease bordetellosis Bordetella Infection Bordetella Infections Bordetella infection Bordetellosis INFECT BORDETELLA Infection, Bordetella Infections, Bordetella B. bronchiseptica infects a wide range of mammals (including humans), whereas B. pertussis infects only humans and, under experimental conditions, mice and pigs. In contrast, B. parapertussis, also a causative agent of pertussis, displays a unique host specificity with 2 subgroups, one infecting only humans and the other infecting only sheep. bordetellosis MONDO:0037937 A disease that has its basis in the disruption of pyrimidine nucleobase metabolic process. disorder of pyrimidine metabolism disorder of pyrimidine nucleobase metabolic process pyrimidine nucleobase metabolic process disease pyrimidine metabolism disease MONDO:0037938 An inherited metabolic disease that is has its basis in the disruption of aspartate family amino acid metabolic process. inborn aspartate family amino acid metabolic process disorder inborn error of aspartate family amino acid metabolic process rare inborn error of aspartate family amino acid metabolic process inborn disorder of aspartate family metabolism MONDO:0037939 Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting the skin or nervous system. Most types are inherited, but porphyria cutanea tarda may also be due to increased iron in the liver, hepatitis C, alcohol, or HIV/AIDS. porphyria Represents both genetic and sporadic forms porphyria MONDO:0037940 An instance of auditory system disease that is caused by an inherited modification of the individual's genome. auditory system hereditary disorder hereditary auditory system disease inherited auditory system disease inherited auditory system disease MONDO:0038268 autoimmune neurological channelopathy MONDO:0040500 glycosylphosphatidylinositol biosynthesis defect 16 GPIBD16 intellectual disability, autosomal recessive 62 mental retardation, autosomal recessive 62 glycosylphosphatidylinositol biosynthesis defect 16 MONDO:0040501 EDS 7B EDS VIIB EDSARTH2 Ehlers-Danlos syndrome, arthrochalasia type, 2 Ehlers-Danlos syndrome, type VIIb, Autosomal dominant ehlers-danlos syndrome, arthrochalasia type, 2 MONDO:0040502 glucocorticoid deficiency 5 GCCD5 glucocorticoid deficiency 5 MONDO:0040503 Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CTNND1 gene. CTNND1 blepharo-cheilo-odontic syndrome blepharo-cheilo-odontic syndrome caused by mutation in CTNND1 BCDS2 BLEPHAROCHEILODONTIC syndrome 2 blepharocheilodontic syndrome 2 MONDO:0040566 An inherited metabolic disease that is has its basis in the disruption of glutathione metabolic process. https://github.com/monarch-initiative/mondo/issues/4985 disorder of glutathione metabolism glutathione metabolism disorder, inherited inborn error of glutathione metabolic process inborn error of glutathione metabolism inborn glutathione metabolic process disorder rare inborn error of glutathione metabolic process inherited glutathione metabolism disease MONDO:0040653 Autosomal recessive form of ocular albinism (disease). autosomal recessive ocular albinism autosomal recessive ocular albinism (disease) ocular albinism (disease), autosomal recessive AROA autosomal recessive ocular albinism MONDO:0040654 Autosomal dominant form of oculocutaneous albinism. autosomal dominant oculocutaneous albinism oculocutaneous albinism, autosomal dominant autosomal dominant oculocutaneous albinism MONDO:0040671 G6PD deficiency G6PD class V variant anemia glucose-6-phosphate dehydrogenase deficiency class V variant anemia favism Editor note: TODO, see PMID:2633878 class V glucose-6-phosphate dehydrogenase deficiency MONDO:0040673 A malignant germ cell tumor that affects the peritoneum. malignant peritoneal germ cell tumor malignant peritoneal germ cell tumor MONDO:0040674 orgasm disorder abnormal orgasm orgasmic dysfunction orgasm disorder MONDO:0040675 A benign, well circumscribed soft tissue neoplasm characterized by the presence of spindle shaped myofibroblasts and mast cells in a collagenous stroma. myofibroblastoma myofibroblastoma MONDO:0040676 A malignant neoplasm arising from the great vessels. cancer of great vessel of heart great vessel cancer great vessel of heart cancer malignant great vessel neoplasm malignant great vessel of heart neoplasm malignant great vessel tumor malignant neoplasm of great vessel of heart great vessel cancer MONDO:0040677 A carcinoma that is not confined to the epithelium, and has spread to the surrounding stroma. invasive carcinoma invasive carcinoma MONDO:0040678 A invasive carcinoma that involves the urothelium. infiltrating transitional cell carcinoma of the urinary tract infiltrating urothelial carcinoma infiltrating urothelial carcinoma MONDO:0040679 A malignant neoplasm derived from the transitional epithelium of the urinary tract (urinary bladder, ureter, urethra, or renal pelvis). It is frequently papillary. Uroepithelial carcinoma transitional cell car. -uroth. transitional cell carcinoma of the urinary tract transitional cell carcinoma of the urothelial tract urothelial carcinoma urothelial carcinoma MONDO:0040698 subacute bursitis subacute bursitis MONDO:0040699 A severe form of scleritis with subtypes: necrotising zonal granulomatous inflammation, diffuse non-granulomatous chronic inflammation, mixed pattern of acute purulent inflammation mixed with granulomatous inflammation and sarcoidal pattern. necrotizing scleritis MONDO:0040700 A benign congenital tumor that affects the orbit. It is one of the most common orbital tumors. It is characterized by the presence of a cystic structure that is lined by keratinizing epithelium and contains adnexal structures. Complete surgical excision is curative. dermoid cyst of orbit dermoid cyst of the orbit epidermal dermoid cyst orbit dermoid cyst orbital dermoid cyst MONDO:0040728 infection by Campylobacter fetus infection by vibrio fetus infection caused by Campylobacter fetus infection caused by vibrio fetus Campylobacter fetus infectious disease MONDO:0040732 infection due to Pseudomonas aeruginosa infection caused by Pseudomonas aeruginosa Pseudomonas aeruginosa infectious disease MONDO:0040753 Mycobacterium tuberculosis infection that does not induce infectious expression of the disease in the affected person, although it can cause continuous immune response generated towards TB antigens; person having LTBI are asymptomatic and acting as a reservoir of active tuberculosis tuberculosis cases and Mycobacterium tuberculosis and run a 5-10% risk of reactivating tuberculosis throughout their lives. LTBI inactive TB inactive tuberculosis tuberculosis infection latent latent tuberculosis infection MONDO:0040870 A form of polydipsia characterised by excessive fluid intake in the absence of physiological stimuli to drink. primary polydipsia MONDO:0040871 A form of primary polydipsia caused by underlying psychiatric symptoms, including those caused by psychoses and rarely by affective disorders. psychogenic polydipsia psychogenic polydipsia MONDO:0040872 A form of primary polydipsia not caused by underlying psychiatric symptoms. idiopathic polydipsia non-psychogenic polydipsia MONDO:0040922 latent early syphilis latent early syphilis MONDO:0040923 Latent syphilis when infection was acquired more than twelve months previously. late latent syphilis late latent syphilis MONDO:0040925 latent yaws latent yaws MONDO:0040998 infection by Pasteurella multocida infection caused by Pasteurella multocida Pasteurella multocida infectious disease MONDO:0041052 postherpetic neuralgia PHN - post-herpetic neuralgia post-zoster neuralgia postherpetic neuralgia MONDO:0041086 mixed anxiety and depressive disorder anxiety depression mixed anxiety and depressive disorder MONDO:0041093 central retinal vein occlusion with macular edema central retinal vein occlusion with macular edema MONDO:0041095 An malignant otitis externa caused by infection with Pseudomonas aeruginosa. Pseudomonas aeruginosa caused malignant otitis externa Pseudomonas aeruginosa malignant otitis externa malignant otitis externa caused by Pseudomonas aeruginosa malignant otitis externa due to Pseudomonas aeruginosa malignant otitis externa caused by Pseudomonas aeruginosa MONDO:0041114 Deficient blood distribution to the limbs caused by narrowing or obstruction of the lumen of the peripheral arteries. peripheral ischemia peripheral ischemic vascular disease peripheral ischemia MONDO:0041154 functional disorder of bladder neck and sphincter mechanism disorder of neck of urinary bladder MONDO:0041167 A life-threatening complication of carcinoid syndrome, and is generally found in people who already have carcinoid syndrome. The crisis may occur suddenly, or it can be associated with stress, chemotherapy, or anesthesia. carcinoid crisis Editor note: consider ceding to HPO carcinoid crisis MONDO:0041182 polymorphic light eruption polymorphous light eruption polymorphic photodermatitis polymorphic light eruption MONDO:0041186 A form of lupus erythematosus (discoid or systemic) with annular lesions of the skin like erythema multiforme associated with a characteristic pattern of immunological abnormalities. lupus erythematosus and erythema multiforme-like syndrome Rowell's syndrome Rowell syndrome MONDO:0041259 An myocarditis caused by infection with Corynebacterium diphtheriae. Corynebacterium diphtheriae caused myocarditis Corynebacterium diphtheriae myocarditis diphtheritic myocarditis diphtheritic myocarditis MONDO:0041261 disorder of acid-base balance disturbance of acid-base balance disorder of acid-base balance MONDO:0041284 A epilepsy that involves the primary motor cortex. epilepsy of primary motor cortex primary motor cortex epilepsy Jacksonian epilepsy motor cortex epilepsy Editor note: TODO. Request Jacksonian seizures from HP? primary motor cortex epilepsy MONDO:0041295 Acute form of kidney papillary necrosis. acute kidney papillary necrosis acute papillary necrosis kidney papillary necrosis, acute acute necrotizing papillitis acute renal medullary necrosis acute papillary necrosis MONDO:0041366 Acute form of epiglottitis. acute epiglottitis epiglottitis, acute acute epiglottitis and supraglottitis acute epiglottitis MONDO:0041403 A condition where a toxic reaction in the optic nerve results in visual loss. Various poisonous substances may cause the condition as well as nutritional factors. nutritional optic neuropathy tobacco amblyopia toxic amblyopia MONDO:0041447 The spread of a malignant neoplasm to the colon. This may be from a primary large intestine malignant neoplasm, or from a malignant neoplasm at a distant site. metastatic malignant neoplasm in the colon metastatic malignant neoplasm to the colon metastatic neoplasm to the colon metastatic tumor to the colon metastatic malignant neoplasm in the colon MONDO:0041448 metastasis from malignant tumor of colon metastasis from malignant tumor of colon MONDO:0041526 pregnancy with abortive outcome pregnancy disorder with abortive outcome MONDO:0041535 An mesenteric lymphadenitis caused by infection with Yersinia pseudotuberculosis. Masshoff's syndrome Yersinia pseudotuberculosis caused mesenteric lymphadenitis Yersinia pseudotuberculosis mesenteric lymphadenitis lymphadenitis mesenterialis Masshoff mesenteric lymphadenitis due to Yersinia pseudotuberculosis mesenteric lymphadenitis due to Yersinia infection MONDO:0041536 A severe inflammatory disease that occurs sporadically and in outbreaks in Russia and Japan, caused by Yersinia pseudotubuclosis infection, an organism that typically causes self-limiting gastroenteritis in Europe. FESLF Izumi fever Far-East scarlet-like fever MONDO:0041656 A very serious type of heart attack during which one of the heart’s major arteries (one of the arteries that supplies oxygen and nutrient-rich blood to the heart muscle) is blocked. ST-segment elevation is an abnormality detected on the 12-lead ECG. ST segment elevation myocardial infarction STEMI acute-ST segment elevation myocardial infarction ST-elevation myocardial infarction MONDO:0041751 A lepromatous form of leprosy that is characterized by numerous infiltrated skin lesions displaying high bacillary loads, impaired peripheral nerves, possible involvement of internal organs, and a Th2-mediated immune response. multibacillary leprosy lepromatous leprosy multibacillary leprosy MONDO:0041752 A tuberculoid form of leprosy that is characterized by a small number of hypopigmented, well-bordered, anesthetic skin lesions with a low bacillary load, early peripheral nerve impairment, and a T-helper 1 (Th1)–mediated immune response. paucibacillary leprosy tuberculoid leprosy paucibacillary leprosy MONDO:0041755 twin reversal arterial perfusion syndrome twin reversal arterial perfusion syndrome MONDO:0041775 intraoperative floppy iris syndrome intraoperative floppy iris syndrome MONDO:0041806 Tuberculosis disease caused by Mycobacterium tuberculosis isolate that is resistant to one or more of the antitubercular medications. drug resistant tuberculosis drug-resistant tuberculosis MONDO:0041825 bacterial meningitis caused by gram-negative bacteria bacterial meningitis due to gram-negative bacteria gram-negative bacterial meningitis meningitis with gram negative bacteria bacterial meningitis caused by gram-negative bacteria MONDO:0041850 pneumonia caused by gram negative bacteria pneumonia due to gram negative bacteria gram negative pneumonia pneumonia caused by gram-negative bacteria pneumonia due to gram-negative bacteria pneumonia caused by gram negative bacteria MONDO:0041879 An pneumonia caused by infection with Staphylococcus aureus. Staphylococcus aureus caused pneumonia Staphylococcus aureus pneumonia pneumonia due to staphylococcus aureus staphylococcus aureus pneumonia pneumonia caused by staphylococcus aureus staphylococcus aureus pneumonia MONDO:0041903 gonococcal infection of joint gonococcal arthritis gonococcal joint infection gonococcal rheumatism gonococcal infection of joint MONDO:0041959 fibrosis of bile duct biliary duct fibrosis biliary sclerosis fibrosis of bile duct MONDO:0041996 thallium poisoning thallium poisoning MONDO:0042233 Systemic candidiasis occurs when Candida yeast enters the bloodstream and may spread (becoming disseminated candidiasis) to other organs, including the central nervous system, kidneys, liver, bones, muscles, joints, spleen, or eyes. disseminated candidiasis disseminated candida disseminated candidosis invasive candidiasis systemic candida infections systemic candidiasis disseminated candidiasis MONDO:0042370 infection by Yersinia enterocolitica infection caused by Yersinia enterocolitica Yersinia enterocolitica infectious disease MONDO:0042433 An endocarditis (disease) caused by infection with Fungi. Fungi caused endocarditis (disease) Fungi endocarditis (disease) mycotic endocarditis fungal endocarditis mycotic endocarditis MONDO:0042451 An inflammation of the endometrium and the myometrium. endomyometritis endomyometritis MONDO:0042452 tertiary lesion of yaws tertiary stage of yaws tertiary yaws tertiary lesion of yaws MONDO:0042458 An disease or disorder caused by infection with Trichinella spiralis. Trichinella spiralis caused disease or disorder Trichinella spiralis disease or disorder infection by larvae of Trichinella spiralis infection caused by larvae of Trichinella spiralis trichinelliasis caused by Trichinella spiralis trichinellosis caused by Trichinella spiralis trichiniasis caused by Trichinella spiralis trichinosis caused by Trichinella spiralis Trichinella spiralis infectious disease MONDO:0042484 disseminated sporotrichosis disseminated sporotrichosis MONDO:0042485 The inflammation of one or more joints caused by any infectious pathogen within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint. infective arthritis septic arthritis infective arthritis MONDO:0042486 https://github.com/monarch-initiative/mondo/issues/4521 polyposis syndrome, hereditary mixed 1 polyposis syndrome, hereditary mixed, 1 HMPS1 chromosome 15Q13-q14 Duplication syndrome, 40-Kb colorectal adenoma and carcinoma 1 colorectal cancer, susceptibility to, 4 colorectal cancer, susceptibility to, on chromosome 15 polyposis syndrome, hereditary mixed, 1 MONDO:0042487 Stage 0 includes: (Tis, N0, M0). Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.) - 2003 CIN 3 aJCC v6 CIN III CIN III - carcinoma in situ of cervix CIN III - severe dyskaryosis CIN grade 3 aJCC v6 FIGO stage 0 carcinoma of cervix FIGO stage 0 carcinoma of cervix uteri FIGO stage 0 carcinoma of the cervix FIGO stage 0 carcinoma of the cervix uteri FIGO stage 0 carcinoma of the uterine cervix FIGO stage 0 carcinoma of uterine cervix FIGO stage 0 cervical carcinoma FIGO stage 0 cervix carcinoma FIGO stage 0 cervix uteri carcinoma FIGO stage 0 uterine cervix carcinoma carcinoma in situ of cervix carcinoma in situ of cervix aJCC v6 carcinoma in situ of cervix uteri aJCC v6 carcinoma in situ of the cervix aJCC v6 carcinoma in situ of the cervix uteri aJCC v6 carcinoma in situ of the uterine cervix aJCC v6 carcinoma in situ of uterine cervix carcinoma in situ of uterine cervix aJCC v6 carcinoma of cervix stage 0 cervical Severe dysplasia aJCC v6 cervical cancer stage 0 aJCC v6 cervical carcinoma in situ aJCC v6 cervical intraepithelial neoplasia grade 3 aJCC v6 cervical intraepithelial neoplasia grade III with severe dysplasia cervix Ca in situ cervix Severe dysplasia aJCC v6 cervix carcinoma in situ aJCC v6 cervix intraepithelial neoplasia grade 3 aJCC v6 cervix uteri Severe dysplasia aJCC v6 cervix uteri carcinoma in situ aJCC v6 cervix uteri intraepithelial neoplasia grade 3 aJCC v6 grade 3 cervical intraepithelial neoplasia aJCC v6 intraepithelial neoplasia of cervix grade 3 aJCC v6 intraepithelial neoplasia of cervix uteri grade 3 aJCC v6 intraepithelial neoplasia of the cervix grade 3 aJCC v6 intraepithelial neoplasia of the cervix uteri grade 3 aJCC v6 intraepithelial neoplasia of the uterine cervix grade 3 aJCC v6 intraepithelial neoplasia of uterine cervix grade 3 aJCC v6 severe cervical dysplasia aJCC v6 severe dysplasia of cervix severe dysplasia of cervix aJCC v6 severe dysplasia of cervix uteri aJCC v6 severe dysplasia of the cervix aJCC v6 severe dysplasia of the cervix uteri aJCC v6 severe dysplasia of the uterine cervix aJCC v6 severe dysplasia of uterine cervix aJCC v6 squamous intraepithelial neoplasia, grade III stage 0 cervical cancer stage 0 cervical cancer aJCC v6 stage 0 uterine cervix carcinoma uterine cervix Severe dysplasia aJCC v6 uterine cervix carcinoma in situ aJCC v6 uterine cervix intraepithelial neoplasia grade 3 aJCC v6 cervix uteri carcinoma in situ uterine cervix carcinoma in situ MONDO:0042488 Infections with true tapeworms of the helminth subclass Cestoda. Cestoda caused disease or disorder Cestoda disease or disorder Cestoda infectious disease cestode infection Bertielliases Bertielliasis Cenuriases Cenuriasis Cestodiasis Cestodosis Coenuriases Coenuriasis Dipylidiases Dipylidiasis Raillietiniases Raillietiniasis cestode infestation disease due to Cestoda infection, cestode infection, tapeworm infections, cestode infections, tapeworm tapeworm infection tapeworm infections Cestode infectious disease MONDO:0042489 A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases. diatheses diathesis disease susceptibilities susceptibilities, disease susceptibility, disease disease susceptibility MONDO:0042490 https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 neutropenia, severe congenital 1, autosomal dominant neutropenia, severe congenital, 1, autosomal dominant SCN1 neutropenia, severe congenital, 1, autosomal dominant MONDO:0042491 A neoplastic process that affects the squamous epithelium of the cervix. It is classified as cervical squamous intraepithelial neoplasia 1, 2, or 3, according to the degree of squamous cell maturation and cellular atypia, and the number of mitotic figures. CIN cervical sil cervical squamous intraepithelial lesion cervical squamous intraepithelial neoplasia cervix squamous intraepithelial lesion cervix uteri sil cervix uteri squamous intraepithelial lesion squamous intraepithelial lesion of cervix squamous intraepithelial lesion of cervix uteri squamous intraepithelial lesion of the cervix squamous intraepithelial lesion of the cervix uteri squamous intraepithelial lesion of the uterine cervix squamous intraepithelial lesion of uterine cervix uterine cervix sil uterine cervix squamous intraepithelial lesion cervical squamous intraepithelial neoplasia MONDO:0042493 An extranodal non-Hodgkin lymphoma that arises from the stomach with the bulk of the mass located in the stomach. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue. gastric non-Hodgkin lymphoma gastric non-Hodgkin's lymphoma non-Hodgkin lymphoma of stomach non-Hodgkin's lymphoma of stomach non-Hodgkin's lymphoma of the stomach primary gastric non-Hodgkin's lymphoma stomach non-Hodgkin lymphoma lymphoma, gastric non Hodgkins type non-Hodgkins gastric lymphoma stomach lymphoma, non-Hodgkins type gastric non-hodgkin lymphoma MONDO:0042494 A melanoma that occurs during childhood. childhood melanoma childhood melanoma (disease) melanoma (disease) of childhood pediatric melanoma (disease) malignant melanoma, childhood childhood malignant melanoma MONDO:0042495 A arteriosclerosis disorder that involves the retina. arteriosclerosis disorder of retina arteriosclerotic retinopathy retina arteriosclerosis disorder arteriosclerosis, retina retinal arteriosclerosis retinopathy, arteriosclerotic arteriosclerotic retinopathy MONDO:0042496 Poisoning caused by ingesting ergotized grain or by the misdirected or excessive use of ergot as a medicine. ergotism Saint Anthony fire Saint Anthony's fire Saint Anthonys fire St Anthony's fire St. Anthony fire St. Anthony's fire St. Anthonys fire ergot poisoning ergot poisonings ergotisms fire, St. Anthonys poisoning, ergot poisonings, ergot ergotism MONDO:0042497 Poisoning caused by the ingestion of mycotoxins (toxins of fungal origin). Fungi caused poisoning Fungi poisoning Mycotoxicoses Poisonings, fungus fungus Poisonings fungus poisoning poisoning, fungus mycotoxicosis MONDO:0042498 Ruzicka Goerz Anton syndrome ichthyosis congenita, neurosensory deafness, oligophrenia, dental aplasia, brachydactyly, clinodactyly, accessory cervical ribs and thyroid carcinoma ichthyosis deafness intellectual disability skeletal anomalies ichthyosis deafness mental retardation skeletal anomalies Ruzicka-Goerz-Anton syndrome MONDO:0042499 BFIC1 BFIS1 benign familial infantile convulsions syndrome benign familial infantile convulsions syndrome 1 benign infantile familial convulsions benign infantile familial convulsions 1 convulsions, benign familial infantile, 1 seizures, benign familial infantile, 1 benign familial neonatal-infantile seizures 1 MONDO:0042600 Sammartino Decreccio syndrome superficial annular corneal dystrophy, ichthyosis nigrans, microcephaly and mild mental subnormality Sammartino-Decreccio syndrome MONDO:0042601 Samson Gardner syndrome craniosynostosis, microcephaly, hydrancephaly, humero-radial synostosis, and thumb aplasia Samson-Gardner syndrome MONDO:0042602 Samson Viljoen syndrome lateral facial cleft, cleft lip and palate, anophthalmia, microtia, clavicular agenesis and asternia Samson-Viljoen syndrome MONDO:0042603 Sanderson Fraser syndrome proptosis, Robin association, clenched hands, and multiple abnormalities Sanderson-Fraser syndrome MONDO:0042604 Sandhaus Ben-Ami syndrome patella hypoplasia skeletal malformations Sandhaus-Ben-Ami syndrome MONDO:0042605 DAZ Y chromosome infertility Y chromosome microdeletions deleted in azoospermia male sterility due to Y-chromosome deletions Y chromosome infertility due to DAZ1 deletion MONDO:0042705 prostatic malacoplakia with prostatic and seminal vesicle abscess prostatic malacoplakia associated with prostatic abscess MONDO:0042717 Saul Wilkes Stevenson syndrome Saul-Wilkes-Stevenson syndrome MONDO:0042724 Volcke Soekarman syndrome macrocephaly, intellectual disability, short stature, spastic paraplegia and cns malformations MONDO:0042726 Kuzniecky Andermann syndrome macrogyria, pseudobulbar palsy and intellectual disability MONDO:0042727 A teratoma that is found at the base of the coccyx. It is the most commonly seen tumor in newborns. pre-sacral teratoma presacral teratoma sacrococcygeal teratoma sacrococcygeal teratoma MONDO:0042902 Say Carpenter syndrome metaphyseal dysplasia hypertelorism hypospadias Say-Carpenter syndrome MONDO:0042911 Schwartz Cohen-Addad Lambert syndrome congenital melanocytosis with myelomeningocele and hydrocephalus Schwartz-Cohen-addad-Lambert syndrome MONDO:0042912 Schlegelberger Grote syndrome syndrome with triphalangia of thumbs, thrombasthenia Glanzmann and deafness of internal ear triphalangeal thumbs thrombocytopathy deafness Schlegelberger-Grote syndrome MONDO:0042913 Schrander-Stumpel Theunissen Hulsmans syndrome vitiligo vulgaris, cleft palate, somatic and psychomotor retardation and facial dysmorphism vitiligo, psychomotor retardation, cleft palate and facial dysmorphism Schrander-stumpel-Theunissen-Hulsmans syndrome MONDO:0042924 Vagneur Triolle Ripert syndrome hypertelorism, short midface, arachnodactyly, coloboma of iris and delayed bone age Vagneur-Triolle-Ripert syndrome MONDO:0042956 Saal Bulas syndrome ectrodactyly, diaphragmatic hernia, congenital heart defect, and agenesis of the corpus callosum Saal-Bulas syndrome MONDO:0042960 Aur syndrome Sackey Sakati Aur syndrome multiple dysmorphic features and pancytopenia pancytopenia multiple congenital anomalies Sackey-Sakati-Aur syndrome MONDO:0042961 sacral hemangiomas multiple congenital abnormalities MONDO:0042962 Slti Salem syndrome hypogonadism and frontoparietal alopecia hypogonadotropic hypogonadism alopecia Slti-Salem syndrome MONDO:0042963 A condition characterized by an abnormal spleen position due to loss, weakness, or malformation of one or more of the ligaments that hold the spleen in its normal position in the left upper abdomen. It may present as a birth defect or follow injuries or pregnancy. Signs and symptoms include abdominal discomfort and splenomegaly. wandering spleen Ptoses, splenic Splenoptoses displaced spleen displaced spleens drifting spleen drifting spleens floating spleen floating spleens ptosis, splenic spleen, displaced spleen, drifting spleen, floating spleen, wandering spleens, displaced spleens, drifting spleens, floating spleens, wandering splenic Ptoses splenic ptosis splenoptosis wandering spleens wandering spleen MONDO:0042964 A subtype of Machado-Joseph disease characterized by Parkinsonian symptoms that respond particularly well to levodopa treatment. azorean disease, type iv Machado-Joseph disease type 4 MONDO:0042965 A subtype of Machado-Joseph disease characterized by resemblance to Hereditary Spastic Paraplegia; however, more research is needed to conclude the relationship between Type V MJD and hereditary spastic paraplegia. azorean disease, type V Machado-Joseph disease type 5 MONDO:0042966 An instance of mitral valve disease that is caused by an inherited modification of the individual's genome. congenital anomaly of mitral valve hereditary mitral valve disease congenital malformation of mitral valve congenital mitral valve abnormality inherited mitral valve disease MONDO:0042967 A rheumatologic disorder that involves the mitral valve. mitral valve rheumatologic disorder rheumatic disease of mitral valve rheumatologic disorder of mitral valve rheumatic mitral valve changes rheumatic mitral valve disease rheumatic disease of mitral valve MONDO:0042968 https://github.com/monarch-initiative/mondo/issues/3492 partial duplication of chromosome 12 MONDO:0042969 Chromosome 12q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 12. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 12q duplication include developmental delay, intellectual disability, behavioral problems, growth delay, and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. https://github.com/monarch-initiative/mondo/issues/3492 12q duplication 12q trisomy Duplication 12q chromosome 12q duplication partial trisomy 12q trisomy 12q partial duplication of the long arm of chromosome 12 MONDO:0042970 A disease that has its basis in the disruption of glutamate decarboxylase activity. deficiency of glutamate decarboxylase disorder of glutamate decarboxylase activity glutamate decarboxylase activity disease glutamate decarboxylase deficiency disorder of glutamate decarboxylase MONDO:0042971 An infectious embryofetopathy caused by infection with Herpesviridae. Herpesviridae caused infectious embryofetopathy Herpesviridae infectious embryofetopathy congenital herpes virus infection congenital infection caused by herpes virus congenital herpes virus infection MONDO:0042972 meningococcemia meningococcal septicemia meningococcemia MONDO:0042973 An instance of osteosclerosis that is caused by an inherited modification of the individual's genome. hereditary osteosclerosis familial osteosclerosis MONDO:0042974 Parainfluenza virus type 3 is one of a group of common viruses known as human parainfluenza viruses (HPIV) that cause a variety of respiratory illnesses. Symptoms usually develop between 2 and 7 days from the time of exposure and typically resolve in 7-10 days. Symptoms may include fever, runny nose, and cough. HPIV-3 can also cause bronchiolitis, bronchitis, and pneumonia. Infants and young children are particularly susceptible to HPIV-3 infections, though older adults and those with a weakened immune system are also at risk for complications. HPIVs are usually spread from an infected person to others through coughing, sneezing, and/or touching. There is currently no vaccine to protect against parainfluenza virus infections. Most HPIV infections resolve on their own and do not require special treatment, though medical intervention may be necessary for severe breathing problems. Most adults have antibodies against parainfluenza but can get repeat infections. human respirovirus 3 caused disease or disorder human respirovirus 3 disease or disorder human respirovirus 3 infectious disease infection due to human parainfluenza virus 3 PIV3 human parainfluenza virus type 3 infection caused by human parainfluenza virus 3 infection caused by parainfluenza virus 3 infection due to parainfluenza virus 3 parainfluenza virus type 3 infectious disease MONDO:0042975 pseudoachondroplastic dysplasia 2 recessive pseudoachondroplasia spondyloepiphyseal dysplasia pseudoachondroplastic 2 pseudoachondroplastic dysplasia 2 MONDO:0042976 A condition due to deficiency in any member of the vitamin B complex. These B vitamins are water-soluble and must be obtained from the diet because they are easily lost in the urine. Unlike the lipid-soluble vitamins, they cannot be stored in the body fat. deficiencies, vitamin B deficiency, vitamin B vitamin B deficiencies vitamin B deficiency MONDO:0042977 trichoepithelioma, multiple familial, 1 Brooke-Fordyce Trichoepitheliomas MFT1 epithelioma adenoides cysticum of Brooke epithelioma, hereditary multiple benign cystic multiple familial trichoepithelioma 1 trichoepithelioma multiple familial 1 trichoepithelioma, multiple familial, 1 MONDO:0042979 hypokalemic periodic paralysis, type 1 HOKPP1 hypokalemic periodic paralysis, type 1 MONDO:0042980 Westphal disease HD- Westphal variant Westphal variant of Huntington's disease Westphal disease MONDO:0042981 Aortic valve stenosis (AVS) is a condition characterized by narrowing of the heart's aortic valve opening. This narrowing prevents the valve from opening fully, which obstructs blood flow from the heart into the aorta, and onward to the rest of the body. AVS can range from mild to severe. Signs and symptoms typically develop when the narrowing of the opening is severe and may include chest pain (angina) or tightness; shortness of breath or fatigue (especially during exertion); feeling faint or fainting; heart palpitations; and heart murmur. Individuals with less severe congenital AVS (present at birth) may not develop symptoms until adulthood. Individuals with severe cases may faint without warning. AVS can have several causes including abnormal development before birth (such as having 1 or 2 valve leaflets instead of 3); calcium build-up on the valve in adulthood; and rheumatic fever. https://github.com/monarch-initiative/mondo/issues/4636 AS aortic stenosis rheumatic aortic stenosis rheumatic aortic valve stenosis stenosed aortic valve valvular aortic stenosis aortic valve stenosis MONDO:0042982 A disorder arising from deficiency in the GATA2 with a wide spectrum of phenotypes. Autosomal dominant mutations of GATA2 cause a haploinsufficiency, which, in consequence, cause individuals to develop hematological, immunological, lymphatic, or other presentations. These often progress to severe organ (e.g. lung) failure, opportunistic infections, myelodysplastic syndrome, and/or acute myeloid leukemia. The most common clinical denominator is the propensity for myeloid neoplasia (myelodysplastic syndrome [MDS], myeloproliferative neoplasms [MPN], chronic myelomonocytic leukemia [CMML], acute myeloid leukemia [AML]). GATA2 deficiency GATA2 deficiency with susceptibility to MDS/AML GATA2 deficiency/MonoMac syndrome The most penetrant phenotype among all of the GATA2 related disease entities (MonoMAC, Emberger Syndrome, familial MDS/AML) is myeloid neoplasia; due to the absence of clearly defined and/or distinct differences in molecular mechanism (haploinsufficiency), coupled with noted phenotypic variability (both intra- and inter-familial) these entities appear to be part of a broader disease entity GATA2 deficiency with susceptibility to MDS/AML MONDO:0042983 A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs. neurocutaneous syndrome Phacomatoses Phacomatosis Phakomatoses neurocutaneous disorder neurocutaneous disorders neuroectodermal dysplasia neuroectodermal dysplasia syndrome neuroectodermal dysplasia syndromes phakomatosis syndrome, neurocutaneous syndrome, neuroectodermal dysplasia syndromes, neurocutaneous syndromes, neuroectodermal dysplasia A number of genetic and acquired diseases come in this category and may affect one or more of these tissues. However, in some conditions, such as von Hippel-Lindau disease, ectodermal presentation is minimal. Editor note: Phakomatoses are inconsistently defined, and there is a lack of consensus about what conditions are included in this category neurocutaneous syndrome MONDO:0043003 An instance of acanthosis nigricans (disease) that is caused by an inherited modification of the individual's genome. hereditary acanthosis nigricans (disease) acanthosis nigricans familial acanthosis nigricans MONDO:0043004 A jauncice caused by severe leptospirosis. Weil's disease Icterohemorrhagic leptospirosis Weil disease Weils disease disease, Weil disease, Weil's icteric leptospirosis jaundice, spirochetal leptospirosis, icterohemorrhagic spirochetal jaundice Weil's disease MONDO:0043009 An instance of lethal multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome. hereditary lethal multiple congenital anomalies/dysmorphic syndrome genetic lethal multiple congenital anomalies/dysmorphic syndrome MONDO:0043069 https://github.com/monarch-initiative/mondo/issues/5588 postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and intellectual disability postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and mental retardation Zerres Rietschel Majewski syndrome MONDO:0043071 https://github.com/monarch-initiative/mondo/issues/5588 aniridia, ectopia lentis, abnormal upper incisors and intellectual disability aniridia, ectopia lentis, abnormal upper incisors and mental retardation aniridia, lens luxation, intellectual disability aniridia, lens luxation, mental retardation Zazam Sheriff Phillips syndrome MONDO:0043073 dermoid cysts, hypothyroidism, cleft palate and hypodontia dermoid cysts, hypothyroidism, cleft palate, and hypodontia Zadik-Barak-Levin syndrome MONDO:0043075 CNS disorder characterized by severe behavioral retardation, hypotonia, inability to talk, marked tremors, gait disturbances and inability to concentr Maccario Mena weir syndrome neuroaxonal dystrophy renal tubular acidosis MONDO:0043077 cardiomyopathy, hypogonadism and metabolic anomalies primary testicular insufficiency with normal virilization, blindness, deafness and metabolic abnormalities weinstein kliman scully syndrome MONDO:0043079 acute articular rheumatism acute rheumatic arthritis acute rheumatism acute articular rheumatism MONDO:0043083 asymmetrical coronal synostosis, cutaneous syndactyly of the fingers and toes, and jejunal atresia coronal synostosis, syndactyly and jejunal atresia MONDO:0043085 Mosaic trisomy 1q12 q21 uniparental disomy 1q12 q21 chromosome 1, uniparental disomy 1q12 q21 MONDO:0043087 thickened earlobes with conductive deafness from incus-stapes abnormalities Schweitzer Kemink Graham syndrome conductive hearing loss, middle ear ossicular anomalies, malformed thickened lop auricles, and micrognathia thickened earlobes with conductive deafness from incus-stapes abnormalities MONDO:0043089 Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) is an acquired, inflammatory eye condition affecting the retina, retinal pigment epithelium (pigmented layer of the retina), and choroid. It usually affects both eyes and is characterized by multiple, yellow-white lesions in the back of the eye. The condition can significantly impair visual acuity if the macula is involved. APMPPE typically resolves on its own in weeks to months. While the cause is unknown, about a third of cases appear to develop after a flu-like illness. Non-ocular symptoms are uncommon, but cerebral vasculitis can be present and may cause permanent and/or severe neurological complications. acute posterior multifocal placoid pigment epitheliopathy AMPPE APMPPE acute multifocal placoid pigment epitheliopathy acute placoid pigment epitheliopathy amppe - acute multifocal placoid pigment epitheliopathy apmppe epitheliopathy, acute posterior multifocal placoid pigment multifocal placoid pigment epitheliopathy pigment epitheliopathy, disseminated retinitis and retinochoroiditis acute posterior multifocal placoid pigment epitheliopathy MONDO:0043094 https://github.com/monarch-initiative/mondo/issues/2114 follicular ichthyosis ichthyosis, follicular MONDO:0043096 Holoacardius amorphus amorphous globosus amorphus globosus fetus anideus holoacardius amorphus MONDO:0043099 https://github.com/monarch-initiative/mondo/issues/5588 acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and intellectual disability acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and mental retardation Hordnes Engebretsen Knudtson syndrome MONDO:0043101 Hypothalamic dysfunction refers to a condition in which the hypothalamus is not working properly. The hypothalamus produces hormones that control body temperature, hunger, moods, release of hormones from many glands such as the pituitary gland, sex drive, sleep, and thirst. The signs and symptoms patients havevary depending on the hormones missing.Anumber of different causes including anorexia, bleeding, genetic disorder, tumors, and more have been linked to hypothalamic dysfunction. Treatment depends on the cause of the hypothalamic dysfunction. hypothalamic dysfunction hypothalamic syndrome hypothalamic dysfunction MONDO:0043103 A condition associated with reduced active import of iodide across the basolateral membrane of the follicular cells of the thyroid gland. Inactivating mutations in the SLC5A5 gene encoding the sodium-iodide symporter are responsible for the condition. hypothyroidism due to iodide transport defect iodide Transport defect iodide transport defect hypothyroidism due to iodide concentration defect iodide transport failure iodine accumulation defect iodine transport defect hypothyroidism due to iodide transport defect MONDO:0043106 https://github.com/monarch-initiative/mondo/issues/2114 ichthyosis linearis circumflexa ichthyosis linearis circumflexa MONDO:0043108 infantile striato thalamic degeneration MONDO:0043110 aplasia cutis cleft palate epidermolysis aplasia cutis congenita, cleft palate, epidermolysis bullosa, and ectrodactyly ptosis, ectropion, thin skin, beaked nose jones hersh yusk syndrome MONDO:0043112 hereditary renal disease and preauricular pits lachiewicz sibley syndrome MONDO:0043114 hydrops, ectrodactyly, syndactyly, duplication of the great toes Landy-Donnai syndrome MONDO:0043116 craniosynostosis with joint contractures, ear deformity, cleft palate, scoliosis, and other features iida kannari syndrome MONDO:0043120 male pseudohermaphroditism due to defective lh molecule MONDO:0043123 arthrogryposis multiplex congenita associated with lissencephaly massa casaer ceulemans syndrome MONDO:0043125 dominantly inherited ptosis, strabismus and ectopic pupils mcpherson robertson cammarano syndrome MONDO:0043127 congenital heart disease, ptosis, hypodontia, and craniosynostosis mehta lewis patton syndrome MONDO:0043129 familial opposable triphalangeal thumbs associated with duplication of the big toes merlob grunebaum reisner syndrome MONDO:0043131 Mullerian aplasia with hypoplastic thumbs Mullerian aplasia with unilateral hypoplasia of the thumbs and skeletal spine deformities michels caskey syndrome MONDO:0043133 microcephaly micropenis convulsions microcephaly micropenis seizures microcephaly seizures genital hypoplasia microcephaly micropenis convulsions MONDO:0043135 microcephaly microphthalmos blindness MONDO:0043137 Nonsyndromal microcephaly microcephaly, non-syndromic nonsyndromic microcephaly isolated microcephaly MONDO:0043139 https://github.com/monarch-initiative/mondo/issues/5588 microcephaly sparse hair intellectual disability seizures MONDO:0043141 microdontia, hypodontia, short bulbous roots and root canals with strabismus, short stature, and borderline mentality microdontia hypodontia short stature MONDO:0043143 Thomas Jewett Raines syndrome Thomas-Jewett-Raines syndrome fetal akinesia with characteristic facial appearance, severe microphthalmia, microtia, and truncus arteriosus microphthalmia-microtia-fetal akinesia microphthalmia microtia fetal akinesia MONDO:0043152 RF-ve CP rheumatoid factor negative erosive chronic polyarthritis rheumatoid factor-negative polyarthritis negative rheumatoid factor polyarthritis MONDO:0043154 fetal ovarian cyst neonatal ovarian cyst MONDO:0043156 Glastre Cochat Bouvier syndrome familial infantile nephrotic syndrome with ocular abnormalities nephrotic syndrome ocular anomalies MONDO:0043162 septo-optic dysplasia with digital anomalies pagon stephan syndrome MONDO:0043164 familial hydrocephalus with a low-insertion umbilicus hydrocephaly - low insertion umbilicus palmer pagon syndrome MONDO:0043166 pancreatic lipomatosis and duodenal atresia pancreatic lipomatosis duodenal stenosis MONDO:0043168 unusual facial appearance, bone fragility, hyperphosphatasemia, and hypophosphatemia panostotic fibrous dysplasia MONDO:0043170 Pavone Fiumara Rizzo syndrome syndactyly type 1 with cataracts and intellectual disability syndactyly type 1 with cataracts and mental retardation Pavone Fiumara Rizzo syndrome MONDO:0043172 asymmetrical coronal synostosis, cutaneous syndactyly of fingers and toes, and jejunal atresia pfeiffer rockelein syndrome MONDO:0043174 https://github.com/monarch-initiative/mondo/issues/5588 sagittal craniostenosis, bilateral coloboma of the iris, craniofacial dysmorphy, asymmetrical split hand malformation, bilateral syndactyly of 2nd-4th Pfeiffer Tietze Welte syndrome MONDO:0043176 deafness hyperuricemia neurologic ataxia PRPP synthetase deficiency phosphoribosylpyrophosphate synthetase deficiency https://rarediseases.info.nih.gov/diseases/4337/phosphoribosylpyrophosphate-synthetase-superactivity MONDO:0043179 short ribs, polysyndactyly, cranial synostosis, cleft palate cardiovascular and urogenital anomalies and severe ossification defect piepkorn karp hickok syndrome MONDO:0043183 meningoencephalocele, arthrogryposis and hypoplastic thumbs podder-tolmie syndrome MONDO:0043185 skeletal abnormalities, camptodactyly, facial anomalies, and feeding difficulties pointer syndrome MONDO:0043187 agenesis of pulmonary artery pulmonary artery agenesis congenital absence of pulmonary artery pulmonary artery absent pulmonary artery agenesis MONDO:0043191 Bruce Winship syndrome Bruce winship syndrome bilateral radial defects club foot deformity micrognathia and cleft palate bilateral radial defects, club foot deformity, micrognathia and cleft palate radial defect robin sequence MONDO:0043193 Richieri-costa Guion-Almeida Cohen syndrome Richieri Costa Guion-Almeida dwarfism acrofacial dysostosis Richieri Costa Guion-Almeida type overgrowth - craniosynostosis - arthrogryposis richieri-costa guion-almeida cohen syndrome MONDO:0043195 Broad terminal phalanges of the thumbs and great toes, antimongoloid slant of the palpebral fissures, and characteristic beaked noses Rubinstein Taybi like syndrome MONDO:0043197 onset of senility in the early teens, atrophic skin, hypogonadism, retinal and vascular sclerosis ruvalcaba churesigaew myhre syndrome MONDO:0043199 Colavita Kozlowski syndrome short limb dwarf lethal colavita kozlowski type MONDO:0043206 Trichostasis spinulosa (TS) is a condition where instead of one hair protruding from a hair follicle, a bundle or bush of hair come out of a single follicle. This results in elevated, dark spiny papules on the head, face (usually the nose), and trunk. In this condition, there are numerous tiny open pores filled with multiple tiny short hairs, usually only visible with a magnifying glass. TS usually does not cause problems andmay only be noticed as an incidental finding. The exact cause is unknown. trichostasis spinulosa elevated dark spiny papules on the face or trunk trichostasis spinulosa MONDO:0043207 early urethral obstruction sequence EUOS renal dysplasia or hydronephrosis, oligohydramnios and subsequent lung hypoplasia due to urethral obstruction urethral obstruction sequence MONDO:0043209 A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair, or skin. albinism This groups multiple types, including those restricted to the eyes, the skin or both albinism MONDO:0043218 A disorder of the nervous system related to a vascular etiology. disease of nervous system vasculature nervous system disorder of vasculature neurovascular disorder vasculature nervous system disorder neurovascular disorder MONDO:0043219 A migraine disorder characterized by episodes that are preceded by focal neurological symptoms originating in the brainstem. basilar artery migraine with aura basilar migraine basilar-type migraine Bickerstaff migraine MBA basilar artery migraine bickerstaff's migraine brainstem migraine vertebrobasilar migraine migraine with brainstem aura MONDO:0043224 A common form of dementia caused by multiple cortical or subcortical cerebral infarctions. multi infarct dementia multi-infarct dementia Binswanger disease Binswanger's disease Dementias, Multiinfarct Dementias, lacunar Dementias, multi-infarct Multiinfarct Dementias Multiinfarct dementia arteriosclerotic dementia dementia multi infarct dementia multi-infarct dementia multi-infarcts dementia, Multiinfarct dementia, lacunar dementia, multi infarct lacunar Dementias lacunar dementia multi-infarct Dementias multi-infarct, dementia multi-infarcts, dementia multi-infarct dementia MONDO:0043226 postpartum amenorrhea-galactorrhea syndrome Chiari Frommel syndrome Chiari-frommel syndrome Frommel disease Frommel's disease disease, Frommel disease, Frommel's persistent postpartum amenorrhea-galactorrhea syndrome postpartum amenorrhoea-galactorrhea syndrome syndrome, Chiari-Frommel postpartum amenorrhea-galactorrhea syndrome MONDO:0043230 Poisoning caused by ingestion of seafood containing microgram levels of ciguatoxins. The poisoning is characterized by gastrointestinal, neurological and cardiovascular disturbances. ciguatera fish poisoning ciguatoxin causing toxic effect Poisonings, ciguatera Poisonings, ciguatera fish ciguatera ciguatera Poisonings ciguatera fish Poisonings ciguatera poisoning poisoning, ciguatera poisoning, ciguatera fish toxic effect of ciguatera fish poisoning ciguatera fish poisoning MONDO:0043233 The widespread involvement of the skin by a scaly, erythematous dermatitis occurring either as a secondary or reactive process to an underlying cutaneous disorder (e.g., atopic dermatitis, psoriasis, etc.), or as a primary or idiopathic disease. It is often associated with the loss of hair and nails, hyperkeratosis of the palms and soles, and pruritus. (From Dorland, 27th ed) exfoliative dermatitis Dermatitides, exfoliative Erythrodermas dermatitis exfoliativa erythroderma exfoliative Dermatitides exfoliative dermatitis MONDO:0043237 Painful sensations in the tongue, including a sensation of burning. glossodynia Glossalgias Glossodynias Glossopyroses glossalgia glossopyrosis painful tongue soreness of tongue glossodynia MONDO:0043240 A form of arthritis that affects hemophiliacs, which is characterized by bleeding into the joint space. hemophilic arthritis hemophilic arthropathy arthropathy in hemophilia hemophilic arthropathy MONDO:0043243 A white patch or plaque on a mucous membrane that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition. keratotic plaque leukoplakia lesion, leukoplakic lesions, leukoplakic leukokeratoses leukokeratosis leukoplakias leukoplakic lesion leukoplakic lesions leukoplakia MONDO:0043247 A disorder characterized by upper gastrointestinal tract bleeding caused by longitudinal mucosal tears in the gastroesophageal junction. The tears result from retching or forceful coughing. It was initially described in alcoholics. https://github.com/monarch-initiative/mondo/issues/5660 Mallory-Weiss syndrome Lacerations-gastroesophageal junction, mucosal Lacerations-gastroesophageal junctions, mucosal Mallory Weiss laceration Mallory Weiss syndrome Mallory Weiss tear Mallory-Weiss laceration Mallory-Weiss tear gastro-esophageal laceration-hemorrhage syndrome gastroesophageal laceration hemorrhage gastroesophageal laceration-hemorrhage gastroesophageal laceration-hemorrhage syndrome gastroesophageal laceration-hemorrhages junction, mucosal Lacerations-gastroesophageal junctions, mucosal Lacerations-gastroesophageal laceration, Mallory-Weiss laceration-hemorrhage, gastroesophageal laceration-hemorrhages, gastroesophageal mucosal Lacerations gastroesophageal junction mucosal Lacerations-gastroesophageal junction mucosal Lacerations-gastroesophageal junctions mucosal lacerations - gastroesophageal junction syndrome, Mallory-Weiss Mallory-Weiss syndrome MONDO:0043251 A benign, slow growing, and painless hamartomatous tumor occurring in tooth-bearing areas of the jaws. According to the presence or absence of tooth-like structures, it is classified as complex type or compound type. Odontoma of complex type is characterized by the presence of enamel and dentin and the absence of tooth-like structures. It is treated with local excision. If it is incompletely removed, it may recur. Odontoma of compound type is characterized by the presence of tooth-like structures. It is treated by local excision. Recurrences have not been reported. fibro-odontoma fibroodontoma odontoma odontoma, benign ameloblastic fibro-odontoma ameloblastic fibro-odontomas compound odontoma compound odontomas fibro odontoma fibro odontoma, ameloblastic fibro-odontoma, ameloblastic fibro-odontomas fibro-odontomas, ameloblastic fibroodontomas odontoma, compound odontomas odontomas, compound odontoma MONDO:0043254 papular urticaria prurigo simplex bullous papular urticaria - type lichen urticatus strophulus urticaria papulosa of hebra papular urticaria MONDO:0043257 Brazilian pemphigus foliaceus Brazilian pemphigus FS South American pemphigus amendola's syndrome endemic pemphigus foliaceus fogo selvagem wild fire wildfire pemphigus pemphigus and fogo selvagem MONDO:0043264 Recurrent seizures causally related to CRANIOCEREBRAL TRAUMA. Seizure onset may be immediate but is typically delayed for several days after the injury and may not occur for up to two years. The majority of seizures have a focal onset that correlates clinically with the site of brain injury. Cerebral cortex injuries caused by a penetrating foreign object (CRANIOCEREBRAL TRAUMA, PENETRATING) are more likely than closed head injuries (HEAD INJURIES, CLOSED) to be associated with epilepsy. Concussive convulsions are nonepileptic phenomena that occur immediately after head injury and are characterized by tonic and clonic movements. (From Rev Neurol 1998 Feb;26(150):256-261; Sports Med 1998 Feb;25(2):131-6) post-traumatic epilepsy Epilepsies, post-traumatic Epilepsies, traumatic PTE - post-traumatic epilepsy concussive convulsion concussive convulsions convulsion, concussive convulsions, concussive disorder, post-traumatic seizure disorders, post-traumatic seizure early post traumatic seizures early post-traumatic seizure early post-traumatic seizures epilepsy, post traumatic epilepsy, traumatic impact seizure impact seizures late post traumatic seizures late post-traumatic seizure late post-traumatic seizures post traumatic seizure disorder post-traumatic Epilepsies post-traumatic seizure disorder post-traumatic seizure disorders post-traumatic seizure, early post-traumatic seizure, late post-traumatic seizures, early post-traumatic seizures, late seizure disorder, post traumatic seizure disorder, post-traumatic seizure disorders, post-traumatic seizure, early post-traumatic seizure, late post-traumatic seizures, early post-traumatic seizures, late post-traumatic traumatic Epilepsies traumatic epilepsy post-traumatic epilepsy MONDO:0043267 Necrotizing VASCULITIS of small and medium size vessels, developing as a complication in RHEUMATOID ARTHRITIS patients. It is characterized by peripheral vascular lesions, cutaneous ulcers, peripheral gangrene, and mononeuritis multiplex. rheumatoid vasculitis Vasculitides, rheumatoid rheumatoid Vasculitides vasculitis, rheumatoid rheumatoid vasculitis MONDO:0043275 A syndrome that results from a group of infections that affect the fetus or the newborn. The group of infections includes Toxoplasma gondii, rubella, cytomegalovirus, herpes simplex virus, and other infections. The other infections include varicella-zoster virus, hepatitis B virus, human immunodeficiency virus, parvovirus B19, and syphilis. Signs and symptoms include fever, feeding difficulties, petechial rash, jaundice, hepatosplenomegaly, chorioretinitis, and microcephaly. TORCH infection TORCH syndrome torch syndrome toxoplasmosis, Other infections, Rubella, Cytomegalovirus, and Herpes simplex Virus (TORCH) syndrome Toxoplasma, rubella, cytomegalovirus and herpes simplex mixed infection toxoplasmosis, other infections, rubella, cytomegalovirus, and herpes simplex virus (torch) syndrome toxoplasmosis, other infections, rubella, cytomegalovirus, and herpes simplex virus syndrome TORCH syndrome MONDO:0043277 Trisomy 6 is a rare prenatal finding. Trisomy 6 conceptions have not been observed in the large case reports of chromosomal mosaicism detected during chorionic villus sampling (Hahnemann & Vejerslev 1997). trisomy 6 trisomy 6 mosaicism Editor notes: TODO DPs for partial/complete/mosaic mosaic trisomy 6 MONDO:0043280 A condition caused by degeneration, atrophy, and destruction of the distal part of a nerve fiber's axon and myelin, when continuity with the neural cell nucleus has been severed due to injury. Signs and symptoms include muscle weakness, altered sensation, and limb numbness. https://github.com/monarch-initiative/mondo/issues/2312 Wallerian Degeneration Degeneration, Wallerian Wallerian degeneration of the pyramidal tract Wallerian degeneration MONDO:0043283 siderosilicosis silicosiderosis hematite miners' lung disease hematite pneumoconiosis iron miners lung silicosiderosis MONDO:0043287 Obstruction of the blood flow in the superior vena cava caused by a malignant neoplasm, thrombosis, or aneurysm. It is a medical emergency requiring immediate treatment. Signs and symptoms include swelling and cyanosis of the face, neck, and upper arms, cough, orthopnea, and headache. superior vena cava syndrome SVC obstruction SVC syndrome SVCS superior vena cava obstruction superior vena cava thrombosis superior vena cava syndrome MONDO:0043291 An abnormality characterized by macroscopic or microscopic outpouchings of gallbladder mucosa into the muscle of the gallbladder wall. It may be associated with cholecystitis or gallstones. Aschoff-Rokitansky sinuses Rokitansky-Aschoff sinuses intramural diverticulosis of the gallbladder Rokitansky-Aschoff sinuses of the gallbladder MONDO:0043294 A type of localized scleroderma characterized by a long strip of indurated skin, which is typically found unilaterally on an arm or leg, and sometimes on the forehead or trunk. This disorder often affects the tissues beneath the skin, causing damage to bones, muscle or other organs. It can limit movement, alter growth, and disfigure the affected area. linear Scleroderma linear scleroderma Scleroderma, linear en coup de sabre linear morphea linear scleroderma MONDO:0043297 An disease or disorder caused by infection with Vibrio vulnificus. Vibrio vulnificus caused disease or disorder Vibrio vulnificus disease or disorder Vibrio vulnificus infectious disease vibrio vulnificus infection vibrio vulnificus infectious disease vibrio vulnificus infectious disease MONDO:0043300 actinic cheilitis actinic cheilosis solar keratosis of lip actinic cheilitis MONDO:0043303 A disorder in which an individual has an abnormally low noise tolerance, and increased sensitivity to sounds. hyperacusis Phonophobias auditory Hyperesthesias auditory hyperesthesia disturbance, loudness perception disturbances, loudness perception hyperacuses hyperacusia hyperacusias hyperesthesia, auditory hyperesthesias, auditory loudness Recruitments loudness perception disturbance loudness perception disturbances loudness recruitment low tolerance to sound oversensitive hearing perception disturbance, loudness perception disturbances, loudness phonophobia recruitment, loudness sounds seem unnaturally loud hyperacusis MONDO:0043310 Transient complete or partial monocular blindness due to retinal ischemia. This may be caused by emboli from the CAROTID ARTERY (usually in association with CAROTID STENOSIS) and other locations that enter the central RETINAL ARTERY. (From Adams et al., Principles of Neurology, 6th ed, p245) amaurosis fugax amaurosis fugax (one sided temporary vision loss) blindness, monocular, transient blindness, transient monocular momentary blindness monocular blindness, transient transient monocular blindness amaurosis fugax MONDO:0043314 A skin condition caused by Mycobacterium marinum, characterized by a skin lesion that presents roughly three weeks after exposure. Mycobacterium marinum caused skin disease Mycobacterium marinum skin disease aquarium granuloma fish tank granuloma M. marinum Mycobacterium marinum infection swimming pool granuloma aquarium granuloma MONDO:0043317 Amyopathic dermatomyositis is a form of dermatomyositis characterized by the presence of typicalskin findingswithout muscle weakness.Some of the skinchanges that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair.While patients with amyopathic dermatomyositis should not have clinically evident muscle weakness, minor muscle abnormalities may be included.Fatigue is reported in at least 50% of patients. Some cases have beenassociated with internal malignancy and/or interstitial lung disease. Treatment may include sun avoidance, ample use of sunscreen, topical corticosteroids, antimalarial agents, methotrexate, mycophenolate mofetil, or intravenous (IV) immunoglobulin. amyopathic dermatomyositis dermatomyositis sine myositis ADM amyopathic dermatomyositis MONDO:0043320 A condition referring to irritation or compression of the proximal sciatic nerve, secondary to contraction of the piriformis muscle. It results in pain in the hip or the back of the leg mimicking disk-related sciatica. piriformis muscle syndrome piriformis syndrome Pseudosciatica deep gluteal syndrome hip socket neuropathy muscle syndrome, piriformis muscle syndromes, piriformis pelvic outlet syndrome piriformis muscle syndromes piriformis syndromes pyriformis syndrome syndrome, piriformis syndrome, piriformis muscle syndromes, piriformis syndromes, piriformis muscle wallet sciatica piriformis syndrome MONDO:0043327 Discharge of cerebrospinal fluid through a hole through the skull bone most commonly draining from the nose (CEREBROSPINAL FLUID RHINORRHEA) or the ear (CEREBROSPINAL FLUID OTORRHEA). cerebrospinal fluid leak CSF leak CSF otorrhea CSF rhinorrhea Drainages, cerebrospinal fluid Leakages, cerebrospinal fluid Leaks, cerebrospinal fluid cerebrospinal fluid Drainages cerebrospinal fluid Leakages cerebrospinal fluid Leaks cerebrospinal fluid drainage cerebrospinal fluid drainage, post traumatic cerebrospinal fluid drainage, post-traumatic cerebrospinal fluid drainage, spontaneous cerebrospinal fluid drainage, traumatic cerebrospinal fluid leak, post traumatic cerebrospinal fluid leak, post-traumatic cerebrospinal fluid leak, spontaneous cerebrospinal fluid leak, traumatic cerebrospinal fluid leakage cerebrospinal fluid leakage, post traumatic cerebrospinal fluid leakage, post-traumatic cerebrospinal fluid leakage, spontaneous cerebrospinal fluid leakage, traumatic csf - cerebrospinal fluid leak drainage, cerebrospinal fluid fluid Drainages, cerebrospinal fluid Leakages, cerebrospinal fluid Leaks, cerebrospinal fluid drainage, cerebrospinal fluid leak, cerebrospinal fluid leakage, cerebrospinal leak, cerebrospinal fluid leakage, cerebrospinal fluid spinal CSF leak spinal cerebrospinal fluid leak spinal cerebrospinal fluid leak, post traumatic spinal cerebrospinal fluid leak, post-traumatic spinal cerebrospinal fluid leak, spontaneous spinal cerebrospinal fluid leak, traumatic cerebrospinal fluid leak MONDO:0043330 Complication of cholelithiasis characterized by obstructive jaundice; abdominal pain, and fever. Mirizzi syndrome mirizzi's syndrome Mirizzi's syndrome Mirizzis syndrome hepatic duct dystonia syndrome syndrome, Mirizzi syndrome, Mirizzi's Mirizzi syndrome MONDO:0043339 A paralytic condition of the legs caused by ingestion of lathyrogens, especially beta-aminopropionitrile or beta-N-oxalyl amino-L-alanine, which are found in the seeds of plants of the genus lathyrus. Lathyrus species poisoning lathyrism Neurolathyrism vetchling poisoning lathyrism MONDO:0043343 Interposition of a portion of the colon (e.g., sigmoid colon) between the liver and the diaphragm. It is associated with abdominal pain, vomiting, constipation, anorexia and volvulus. Chilaiditi anomaly refers to asymptomatic interposition. subphrenic interposition syndrome Chilaiditi anomaly Chilaiditi's anomaly Chilaiditi's syndrome Chilaiditis anomaly Chilaiditis syndrome anomaly, Chilaiditi anomaly, Chilaiditi's chilaiditi's syndrome hepatodiaphragmatic colonic interposition syndrome, Chilaiditi syndrome, Chilaiditi's Chilaiditi syndrome MONDO:0043346 Progressive transformation of germinal centers is a condition in which a lymph node becomes very enlarged (lymphadenopathy). Typically, only one lymph node is affected, though PTGC can involve multiple lymph nodes. Theneck is the most common location of affected lymph nodes, but PTGC may also affect lymph nodes in the groin and armpits. adults are more frequently affected than children, but children have a higher chance of developing PTGC multiple times (recurrence). PTGC is not considered a precancerous condition, though it has been associated with Hodgkin lymphoma. progressive transformation of Germinal centers PTGC Editor note: represents a finding in NCIT progressive transformation of germinal centers MONDO:0043349 A reactive, well-circumscribed vascular lesion. It is characterized by the formation of thin papillae projecting within the lumen of blood vessels. The papillae are lined by plump endothelial cells. Blood clots are also present. Masson lesion Masson pseudotumor Masson's pseudosarcoma Masson's pseudotumor Masson's vegetant hemangioma intravascular papillary endothelial hyperplasia papillary endothelial hyperplasia Masson's pseudoangiosarcoma Masson's tumor Masson's vegetant intravascular hemangio-endothelioma masson's pseudosarcoma intravascular papillary endothelial hyperplasia MONDO:0043352 An acute necrotic infection of the SCROTUM; PENIS; or PERINEUM. It is characterized by scrotum pain and redness with rapid progression to gangrene and sloughing of tissue. Fournier gangrene is usually secondary to perirectal or periurethral infections associated with local trauma, operative procedures, or urinary tract disease. fournier gangrene fournier's gangrene Fournier disease Fournier's disease Fournier's gangrene Fourniers disease Fourniers gangrene gangrene, Fournier gangrene, Fournier's fournier gangrene MONDO:0043355 A rare type of gastritis characterized by gastric subepithelial collagen deposition and inflammatory infiltrates in the lamina propria. The pathogenesis of this disorder is unclear although an association with autoimmune disorders has been reported. It affects both children and adults. Children present with iron deficiency anemia and have a nodular stomach on gastroscopy. adults present with chronic watery diarrhea and may have an associated collagenous colitis. collagenous gastritis collagenous gastritis MONDO:0043358 A toxicity of hematopoietic stem cell transplantation that manifests as fever, rash and pulmonary deterioration which becomes evident at marrow engraftment. It occurs unexpectedly and is occasionally fatal. It can occur after an autogeneic or an allogeneic hematopoietic cell transplantation. engraftment syndrome engraftment syndrome MONDO:0043361 A compression of ILIAC VEIN that results in a decreased flow in the vein and in the left LOWER EXTREMITY due to a vascular malformation. It may result in left leg EDEMA, pain, iliofemoral DEEP VENOUS THROMBOSIS and POSTTHROMBOTIC SYNDROME. Compression of the left common ILIAC VEIN by the right common ILIAC ARTERY against the underlying fifth LUMBAR VERTEBRA is the typical underlying malformation. May-Thurner syndrome iliac vein compression syndrome Cockett syndrome Iliac vein compression syndrome Iliocaval compression syndrome Iliocaval compression syndromes May Thurner syndrome compression syndrome, Iliocaval compression syndromes, Iliocaval syndrome, Cockett syndrome, Iliocaval compression syndrome, May-Thurner syndromes, Iliocaval compression May-Thurner syndrome MONDO:0043364 A rare abnormality of eosinophil granulocytes characterized by decreased or absent peroxidase activity and decreased volume of the granule matrix. https://github.com/monarch-initiative/mondo/issues/4521 eosinophil peroxidase deficiency EPXD Presentey anomaly eosinophil peroxidase deficiency, Partial eosinophil peroxidase deficiency, partial peroxidase and phospholipid deficiency in eosinophils presentey anomaly eosinophil peroxidase deficiency MONDO:0043370 A hormonal disorder that occurs when lack of corticotropin-releasing hormone (CRH) secretion from the hypothalamus or adrenocorticotropic hormone (ACTH) secretion from the pituitary is responsible for hypofunction of the adrenal cortex. central Hypoadrenalism central adrenal insufficiency hypocortisolism secondary to another disorder secondary adrenal insufficiency secondary adrenocortical insufficiency secondary hypocortisolism secondary adrenal insufficiency MONDO:0043373 Sensorineural hearing loss which develops suddenly over a period of hours or a few days. It varies in severity from mild to total deafness. Sudden deafness can be due to head trauma, vascular diseases, infections, or can appear without obvious cause or warning. sudden hearing loss sudden sensorineural hearing loss acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma deafness, sudden sudden deafness sudden sensorineural hearing loss MONDO:0043377 A group of chronic, inflammatory childhood diseases characterized by arthritis and enthesitis. This disorder can affect the axial skeleton in late childhood or young adulthood. JSpA juvenile Spondyloarthritis juvenile spondyloarthropathy juvenile spondyloarthropathy MONDO:0043424 A viral, bacterial, fungal, or parasitic infectious process that affects the digestive system. digestive system infection gastrointestinal infection gastrointestinal system infection infection of gastrointestinal tract digestive system infectious disorder MONDO:0043452 A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells. chromosome 8 duplication trisomy 8 chromosome 8, trisomy MONDO:0043455 Hypercalcemia generally develops as a late complication of malignancy; its appearance has grave prognostic significance. It remains unclear, however, whether death is associated with hypercalcemic crisis (uncontrolled or recurrent progressive hypercalcemia) or with advanced disease. Symptoms include central nervous system impairment such as delirium with prominent symptoms of personality change, cognitive dysfunction, disorientation, incoherent speech, and psychotic symptoms such as hallucinations and delusions, smooth muscle hypotonicity, and altered cardiovascular function. humoral hypercalcemia of malignancy hypercalcemia of malignancy hhm mahc malignancy associated hypercalcemia malignant hypercalcemia humoral hypercalcemia of malignancy MONDO:0043458 Harmful effects of non-experimental exposure to ionizing or non-ionizing radiation in VERTEBRATES. radiation injury Injuries, radiation Sicknesses, radiation injury, radiation radiation Sicknesses radiation sickness radiation syndrome radiation syndromes sickness, radiation syndrome, radiation syndromes, radiation radiation injury MONDO:0043459 A non-neoplastic or neoplastic disorder which results from exposure to radiation. Examples of non-neoplastic disorders include dermatitis, enteritis, stomatitis, pneumonitis, and cerebritis. Examples of neoplastic disorders include myelodysplastic syndromes, leukemias, and sarcomas. radiation-induced Abnormality radiation-induced abnormalities radiation-induced disorder Abnormality, radiation-induced abnormalities, radiation induced radiation induced abnormalities radiation-induced disorder MONDO:0043465 Absence of hydrochloric acid in the gastric juice. achlorhydria absent gastric acidity achylia gastrica gastric anacidity hypochlorhydria achlorhydria MONDO:0043468 A chronic eruption of fibrous papules that develop and fuse to form a thick sclerotic, hypertrophic band at a site of deep folliculitis, usually along the posterior hairline of the scalp. It is most commonly seen in men of African descent. acne keloid keloidal folliculitis Acnes, nuchal keloid Capillitii, dermatitis papillaris Capillitius, dermatitis papillaris Keloidalis nuchae, folliculitis Keloidalis nuchae, lichen acne Keloidalis acne keloids acne, keloidal acne, nuchal keloid dermatitis papillaris Capillitii dermatitis papillaris Capillitius folliculitis Keloidalis folliculitis Keloidalis nuchae keloid Acnes, nuchal keloid acne, nuchal keloid, acne keloidal Acnes keloidal acne keloids, acne lichen Keloidalis nuchae nuchae, folliculitis Keloidalis nuchae, lichen Keloidalis nuchal keloid Acnes nuchal keloid acne papillaris Capillitii, dermatitis papillaris Capillitius, dermatitis acne keloid MONDO:0043472 A syndrome characterized by abnormal secretion of adrenocorticotrophic hormone in conjunction with neoplastic growth occurring anywhere in the body. The most common associations are tumors of the bronchus (oat cell or carcinoid), thymic tumors (epithelial or carcinoid), and pancreatic endocrine tumor. (DeVita et al. Cancer, p 1364. 4th edition. Lippincott) ectopic ACTH secretion ectopic ACTH secretion syndrome ectopic ACTH syndrome hypercortisolism due to nonpituitary tumor ACTH syndromes, ectopic ectopic ACTH secretion causing Cushing's syndrome ectopic ACTH syndromes syndrome, ectopic ACTH syndromes, ectopic ACTH ectopic ACTH secretion syndrome MONDO:0043475 An episode of sudden and transient loss of consciousness sometimes associated with seizures. It is caused by a sudden decrease of the cardiac output that results from a sudden cardiac dysrhythmia. Typically patients develop an initial pallor, followed by facial flush during recovery. Stokes-Adams syndrome Adam Stokes attacks Adam-Stokes attacks Adams Stokes syndrome Stokes Adams attacks Stokes Adams syndrome Stokes-Adams attacks Stokes-Adams-morgagni syndrome attacks, Adam-Stokes attacks, Stokes-Adams syndrome, Adams-Stokes syndrome, Stokes-Adams Adams-Stokes syndrome MONDO:0043479 An infectious process caused by adenovirus. The virus may cause respiratory illness, conjunctivitis, gastroenteritis, and cystitis. Adenoviridae caused disease or disorder Adenoviridae disease or disorder Adenoviridae infectious disease adenoviridae infectious disease adenovirus infection disease due to adenovirus Adenoviridae infection adenovirus infections disease caused by adenovirus infection, Adenoviridae infection, adenovirus infections, Adenoviridae infections, adenovirus Editor note: check adenovirus vs adenoviridae adenoviridae infectious disease MONDO:0043494 An inflammatory process affecting an artery. arteritis artery inflammation inflammation of artery Arteritides Inflammation, arterial arterial Inflammation arteritis MONDO:0043510 Acute and chronic (see also brain INJURIES, CHRONIC) injuries to the brain, including the cerebral hemispheres, CEREBELLUM, and brain STEM. Clinical manifestations depend on the nature of injury. Diffuse trauma to the brain is frequently associated with DIFFUSE AXONAL INJURY or COMA, POST-TRAUMATIC. Localized injuries may be associated with NEUROBEHAVIORAL MANIFESTATIONS; HEMIPARESIS, or other focal neurologic deficits. brain injury injury of brain brain Traumas brain trauma brain injury MONDO:0043512 Encephalopathy resulting from trauma. traumatic encephalopathy dementia due to head trauma post-traumatic brain syndrome post-traumatic dementia Editor note: consider separate class for dementia traumatic encephalopathy MONDO:0043519 A traumatic injury involving interruption of tissue cohesiveness that results from exposure to caustic chemicals, extreme heat, extreme cold or excessive radiation. Burn Burn(s) burn burn MONDO:0043523 Poisoning occurring after exposure to cadmium compounds or fumes. It may cause gastrointestinal syndromes, anemia, or pneumonitis. cadmium poisoning Itai Itai Itai-Itai Poisonings, cadmium cadmium Poisonings poisoning, cadmium cadmium poisoning MONDO:0043529 Cardiac manifestation of gastrointestinal CARCINOID TUMOR that metastasizes to the liver. Substances secreted by the tumor cells, including SEROTONIN, promote fibrous plaque formation in ENDOCARDIUM and its underlying layers. These deposits cause distortion of the TRICUSPID VALVE and the PULMONARY VALVE eventually leading to STENOSIS and valve regurgitation. carcinoid heart disease carcinoid heart diseases heart disease, carcinoid heart diseases, carcinoid carcinoid heart disease MONDO:0043537 A headache disorder that is characterized by periodic severe, unilateral orbital, supraorbital, and/or temporal pain, and is associated with ipsilateral cranial autonomic symptoms. Cephalgia, histamine Cephalgias, histamine Horton headache Horton syndrome Horton's headache Horton's neuralgia Horton's syndrome Hortons syndrome ciliary neuralgia ciliary neuralgias cluster headache cluster headache syndrome cluster migraine erythromelalgia of the head erythroprosopalgia of bing histamine cephalgia histamine cephalgias histamine headache migraine, neuralgic migraines, neuralgic migrainous neuralgia red migraine atypical cluster headache atypical cluster headaches beuralgias, ciliary chronic cluster headache chronic cluster headaches cluster headache syndromes cluster headache, atypical cluster headache, chronic cluster headache, episodic cluster headaches cluster headaches, atypical cluster headaches, chronic cluster headaches, episodic episodic cluster headache episodic cluster headaches headache syndrome, cluster headache syndromes, cluster headache, atypical cluster headache, chronic cluster headache, cluster headache, episodic cluster headaches, atypical cluster headaches, chronic cluster headaches, cluster headaches, episodic cluster neuralgia, ciliary neuralgic migraine neuralgic migraines syndrome, Horton syndrome, Horton's syndrome, cluster headache syndromes, cluster headache vasomotor headache cluster headache syndrome MONDO:0043541 Conjunctivitis resulting from viral infection. Viruses caused conjunctivitis (disease) Viruses conjunctivitis (disease) viral conjunctivitis Conjunctivitides, viral viral Conjunctivitides viral conjunctivitis MONDO:0043543 Any adverse condition in a patient occurring as the result of treatment by a physician, surgeon, or other health professional, especially infections acquired by a patient during the course of treatment. iatrogenic disorder condition, hospital-acquired conditions, hospital-acquired disease, iatrogenic diseases, iatrogenic hospital acquired condition hospital-acquired condition hospital-acquired conditions iatrogenic diseases iatrogenic disease MONDO:0043544 An infection acquired in a hospital or other healthcare setting. HAI Healthcare-associated infection hospital-acquired infection hospital-onset infection nosocomial infection nosocomial infectious disease Cross infections Healthcare associated infection Healthcare associated infections associated infection, Healthcare associated infections, Healthcare health care associated infection health care associated infections hospital infection hospital infections infection, Cross infection, Healthcare associated infection, hospital infection, nosocomial infections, Cross infections, Healthcare associated infections, hospital infections, nosocomial nosocomial infections nosocomial infection MONDO:0043549 A medical condition characterized by major shock and renal failure after a crushing injury to skeletal muscle. crush syndrome acute renal failure due to rhabdomyolysis bywaters' syndrome crush kidney crush syndromes ischemic muscular necrosis syndrome myoglobinuric acute renal failure myoglobinuric nephrosis renal failure following crushing injury syndrome, crush syndromes, crush crush syndrome MONDO:0043555 Diarrhea occurring in infants from newborn to 24-months old. diarrheal disease of infancy infantile diarrhea infantile diarrheal disease infantile onset diarrheal disease toddler diarrhea Diarrheas, infantile infantile Diarrheas infantile diarrhea MONDO:0043576 Inflammation of the arterial intima. endarteritis inflammation of tunica intima of artery tunica intima of artery inflammation Endarteritides endarteritis MONDO:0043579 Inflammation of the small intestine. enteritis enteritis of small intestine inflammation of small intestine small intestine inflammation Enteritides enteritis, inflammatory disorder of small intestine enteritis MONDO:0043589 Fractures of the short, constricted portion of the thigh bone between the femur head and the trochanters. It excludes intertrochanteric fractures which are HIP FRACTURES. bone fracture of neck of femur femoral neck fracture fracture of neck of femur neck of femur bone fracture femur neck fracture femur neck fractures fracture of hip nof - fracture of neck of femur femoral neck fracture MONDO:0043653 A lesion caused by type 1 or type 2 herpes simplex virus, typically involving the oralfacial region. https://github.com/monarch-initiative/mondo/issues/3348 cold sore cold sores herpes labialis Herpes simplex, labial Sore, cold Sores, cold blister, fever blisters, fever fever blister fever blisters herpes simplex labialis labial Herpes simplex herpes labialis MONDO:0043678 Chromosomal disorder consisting of the presence a chromosome rearrangement in which a segment has been turned through 180 degrees (inverted), and inserted back into its original location on the chromosome. Inversions, chromosomal Inversions, chromosome chromosomal Inversions chromosomal inversion chromosome Inversions inv inversion inversion, chromosomal inversion, chromosome inverted chromosome chromosome inversion disorder MONDO:0043683 An atherosclerotic disorder of the peripheral vascular system affecting mostly males in their later decades. It is caused by thrombotic occlusion of the abdominal aorta just above the level of the bifurcation. Clinical signs include impotence, intermittent claudication, diminished femoral pulses and cold, pallid lower extremities. Prognosis is favorable with surgical or endovascular intervention. Leriche syndrome leriche's syndrome Leriche's syndrome Leriches syndrome syndrome, Leriche syndrome, Leriche's Leriche syndrome MONDO:0043693 A disorder caused by damage to the liver parenchyma due to alcohol consumption. It may present with an acute onset or follow a chronic course, leading to cirrhosis. alcoholic liver disease alcoholic liver diseases alcoholic liver damage liver disease, alcoholic alcoholic liver diseases MONDO:0043723 Fracture in the proximal half of the shaft of the ulna, with dislocation of the head of the radius. monteggia's fracture Monteggia fracture Monteggias fracture fracture, Monteggia's monteggia fracture monteggia fracture dislocation monteggia's dislocation Monteggia's fracture MONDO:0043726 The development of potentially reversible physiologic derangement involving two or more organ systems not involved in the disorder that resulted in intensive care unit (ICU) admission, and arising in the wake of a potentially life-threatening physiologic insult. multiorgan failure multiple organ dysfunction syndrome multiple organ failure multiple organ system failure MODS failure, multiple organ multi-organ failure multiple organ failures multiple organ systems failure multiple systems organ failure multisystem organ failure organ dysfunction syndrome, multiple organ failure, multiple multiple organ dysfunction syndrome MONDO:0043731 Dissolution of bone that particularly involves the removal or loss of calcium. lytic metastatic bone lesion osteolysis osteolytic lesion Osteolyses Editor note: finding in NCIT lytic metastatic bone lesion MONDO:0043735 Necrosis of bone following radiation injury. osteoradionecrosis Osteoradionecroses radiation necrosis of bone osteoradionecrosis MONDO:0043759 Ectopic pregnancy characterized by the implantation of the embryo in the peritoneal cavity or abdominal organs. abdomen ectopic pregnancy abdominal pregnancy ectopic pregnancy of abdomen intra-abdominal pregnancy Pregnancies, abdominal abdominal Pregnancies abdominal ectopic pregnancy MONDO:0043762 An abnormal pregnancy in which the conception is implanted in the fallopian tube. ectopic pregnancy of fallopian tube fallopian tube ectopic pregnancy tubal pregnancy Pregnancies, tubal fallopian pregnancy fallopian tube pregnancy tubal Pregnancies tubal pregnancy MONDO:0043765 Bilateral hearing loss caused by progressive degeneration of cochlear structures and central auditory pathways, typically associated with the aging process. presbycusis Presbycuses age-related hearing loss presbyacusia senile deafness presbycusis MONDO:0043768 Purpura associated with a reduction in circulating blood platelets which can result from a variety of factors. thrombocytopenic purpura purpura, thrombopenic purpuras, thrombocytopenic purpuras, thrombopenic thrombocytopenic purpuras thrombopenic purpura thrombopenic purpuras thrombocytopenic purpura MONDO:0043771 A cutaneous inflammatory reaction occurring as a result of exposure to biologically effective levels of ionizing radiation. dermatitis radiation radiation dermatitis radiation-induced dermatitis radiodermatitis Dermatitides, radiation recall Dermatitides, radiation-induced Radiodermatitides dermatitis, radiation induced dermatitis, radiation recall dermatitis, radiation-induced radiation induced dermatitis radiation recall Dermatitides radiation recall dermatitis radiation recall reaction radiation recall reactions radiation-induced Dermatitides reaction, radiation recall reactions, radiation recall recall reaction, radiation recall reactions, radiation radiodermatitis MONDO:0043775 Complete or severe weakness of the muscles of respiration. This condition may be associated with motor neuron diseases; peripheral nerve diseases; neuromuscular junction diseases; spinal cord diseases; injury to the phrenic nerve; and other disorders. paralysis of diaphragm diaphragmatic paralysis muscle paralyses, respiratory muscle paralysis, respiratory paralysis, diaphragmatic paralysis, respiratory paralysis, respiratory muscle respiratory muscle paralysis respiratory paralysis MONDO:0043777 Progressive enlargement of the nose due to hypertrophy of the sebaceous glands of the tip of the nose and fibrosis. It usually affects older men and is associated with long-standing acne rosacea. It presents as a pink lobulated mass with dilated vessels in the nose. rhinophyma Rhinophymas hypertrophic rosacea rhinophyma MONDO:0043783 A diffuse hardening of skin and subcutaneous adipose tissue, associated with minimal inflammation without fat necrosis, that typically affects critically ill preterm neonates during the first week of life. sclerema neonatorum sclerema adiposum underwood's disease sclerema neonatorum MONDO:0043786 Inflammation of a serous membrane. inflammation of serous membrane serositis serous membrane inflammation Serositides serositis MONDO:0043789 Delayed-type hypersensitivity reaction to foreign proteins derived from an animal serum. It occurs approximately six to twenty one days following the administration of the foreign antigen. Symptoms include fever, arthralgias, myalgias, skin eruptions, lymphadenopathy, chest pain, and dyspnea. Certain drugs (e.g., antibiotics, anticancer agents, and anti-inflammatory medications) and infectious disorders (e.g., hepatitis B) may also cause serum sickness-like reaction. serum sickness transfusion reaction due to serum protein reaction Sicknesses, serum intoxication by serum protein sickness serum Sicknesses serum reaction sickness, serum serum sickness MONDO:0043797 Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces (e.g., WOUNDS, GUNSHOT; WHIPLASH INJURIES; etc.). injury of spinal cord spinal cord injury Contusions, spinal cord Injuries, spinal cord Lacerations, spinal cord Myelopathies, post-traumatic Myelopathies, traumatic Transections, spinal cord Traumas, spinal cord contusion, spinal cord cord Contusions, spinal cord Injuries, spinal cord Lacerations, spinal cord Transections, spinal cord Traumas, spinal cord contusion, spinal cord injury, spinal cord laceration, spinal cord transection, spinal cord trauma, spinal injury, spinal cord laceration, spinal cord myelopathy, post-traumatic myelopathy, traumatic post traumatic myelopathy post-traumatic Myelopathies post-traumatic myelopathy spinal cord Contusions spinal cord Lacerations spinal cord Transections spinal cord Traumas spinal cord contusion spinal cord laceration spinal cord transection spinal cord trauma transection, spinal cord trauma, spinal cord traumatic Myelopathies traumatic myelopathy spinal cord injury MONDO:0043836 Tuberculosis of the vertebrae. pott disease pott's disease tuberculosis of vertebral column Potts disease Tuberculoses, spinal disease, pott disease, pott's pott's paraplegia spinal Tuberculoses spinal tuberculosis tuberculosis of spine (pott's) tuberculosis of vertebral column - pott's tuberculous spondylitis tuberculosis, spinal MONDO:0043839 A lesion on the surface of the skin or a mucous surface, produced by the sloughing of inflammatory necrotic tissue. ulcer ulceration ulcerative ulcers ulcerated ulcer disease MONDO:0043862 A pathologic process in the larynx that affects the production of speech. Causes include vocal cord paresis, vocal cord nodule, vocal cord polyp, and laryngitis. neurologic voice disorder voice disorder neurologic dysphonia voice disorders MONDO:0043875 A condition of metabolic abnormalities that result from a spontaneous or therapy-related cytolysis of tumor cells. Tumor lysis syndrome typically occurs in aggressive, rapidly proliferating lymphoproliferative disorders. Burkitt lymphoma and T cell acute lymphoblastic leukemia are commonly associated with this syndrome. Metabolic abnormalities include hyperuricemia, lactic acidosis, hyperkalemia, hyperphosphatemia and hypocalcemia and may result in renal failure, multiple organ failure, and death. tumor lysis syndrome syndrome, tumor lysis syndrome, tumour lysis syndromes, tumor lysis syndromes, tumour lysis tumor lysis syndromes tumour lysis syndrome tumour lysis syndromes tumor lysis syndrome MONDO:0043878 A family of inherited disorders characterized by progressive loss of vision secondary to death of the retinal ganglion cell axons that comprise the optic nerve. hereditary optic atrophy Atrophies, hereditary optic atrophy, hereditary optic hereditary optic Atrophies optic atrophy, hereditary hereditary optic atrophy MONDO:0043885 An infectious process affecting any part of the eye. Causes include viruses and bacteria. Symptoms include itching and discomfort in the eye, watery eyes, eye pain and discharge, and blurring vision. Representative examples include pink eye, blepharitis, and trachoma. eye infection infection, eye infection, ocular infections, eye infections, ocular ocular infection ocular infections eye infectious disorder MONDO:0043892 A bacterial infection related to a device used to replace a missing body part. The infection may occur during the operation from direct contamination or post-operatively through hematogenous spread. device related infection prosthesis-related infection infections, prosthesis-related prosthesis related infections prosthesis-related infectious disease MONDO:0043895 Harm or hurt to the ankle or ankle joint usually inflicted by an external source. ankle injury injury of ankle injury of tarsal region tarsal region injury Injuries, ankle Injuries, syndesmotic Sprains, ankle ankle Sprains ankle sprain injury, ankle injury, syndesmotic sprain, ankle syndesmotic Injuries syndesmotic injury ankle injury MONDO:0043904 A form of LEISHMANIASIS, CUTANEOUS caused by Leishmania aethiopica in Ethiopia and Kenya, L. pifanoi in Venezuela, L. braziliensis in South America, and L. mexicana in Central America. This disease is characterized by massive dissemination of skin lesions without visceral involvement. diffuse cutaneous leishmaniasis Leishmaniases, diffuse cutaneous cheloid leishmaniasis cutaneous Leishmaniases, diffuse cutaneous leishmaniasis, diffuse dcl - diffuse cutaneous leishmaniasis diffuse cutaneous Leishmaniases leproid leishmaniasis lepromatous cutaneous leishmaniasis leishmaniasis, diffuse cutaneous MONDO:0043905 An inflammatory process affecting the lung parenchyma. It is a milder form of lung inflammation compared to pneumonia. inflammation of lung parenchyma lung parenchyma inflammation pneumonitis Pneumonitis typically refers to non-infectious inflammation, whereas pneumonia refers to infectious pneumonitis MONDO:0043919 Inflammation of the lung due to harmful effects of ionizing or non-ionizing radiation. radiation pneumonitis Pneumonias, radiation Pneumonitides, radiation fibrosis, radiation pneumonia, radiation pneumonitis, radiation pulmonary radiation alveolitis radiation Pneumonias radiation Pneumonitides radiation fibrosis radiation pneumonia radiation pneumonitis MONDO:0043923 A chronic, autoimmune inflammatory condition of the mucous membranes in the oral cavity that affects approximately two percent of the population and is most often seen in middle aged women. It is characterized by white, lacy patches; red, swollen tissue; papules and plaques; or open sores. The lesions are typically bilateral. oral lichen planus olp - oral lichen planus lichen planus, oral MONDO:0043953 Infections with bacteria of the genus Burkholderia. Burkholderia caused disease or disorder Burkholderia disease or disorder Burkholderia infectious disease burkholderia infectious disease infection caused by Burkholderia Burkholderia infection infection, Burkholderia infections, Burkholderia burkholderia infectious disease MONDO:0043959 A neoplastic process that resembles a malignant lymphoma, but has a benign course. pseudolymphoma benign lymphoid hyperplasia hyperplasia, reactive lymphoid hyperplasias, reactive lymphoid lymphocytoma lymphocytomas lymphoid Hyperplasias, reactive lymphoid hyperplasia, reactive pseudolymphomas reactive lymphoid Hyperplasias reactive lymphoid hyperplasia pseudolymphoma MONDO:0043969 A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night. dystonia, hypnogenic paroxysmal dystonia, nocturnal paroxysmal dystonia, nocturnal, paroxysmal dystonia, sleep-related dystonias, hypnogenic paroxysmal dystonias, nocturnal paroxysmal dystonias, sleep-related hypnogenic paroxysmal dystonia hypnogenic paroxysmal dystonias nocturnal paroxysmal dystonias paroxysmal dystonia, hypnogenic paroxysmal dystonia, nocturnal paroxysmal dystonias, hypnogenic paroxysmal dystonias, nocturnal sleep related dystonia sleep-related dystonia sleep-related dystonias nocturnal paroxysmal dystonia MONDO:0043975 A syndrome associated with damage to the spinal cord above the mid thoracic level (see SPINAL CORD INJURIES) characterized by a marked increase in the sympathetic response to minor stimuli such as bladder or rectal distention. Manifestations include HYPERTENSION; TACHYCARDIA (or reflex bradycardia); FEVER; FLUSHING; and HYPERHIDROSIS. Extreme hypertension may be associated with a STROKE. (From Adams et al., Principles of Neurology, 6th ed, pp538 and 1232; J Spinal Cord Med 1997;20(3):355-60) autonomic dysreflexia Dysreflexia, autonomic Dysreflexia, spinal autonomic Dysreflexias, autonomic Dysreflexias, spinal autonomic autonomic Dysreflexia, spinal autonomic Dysreflexias autonomic Dysreflexias, spinal autonomic Hyperreflexias autonomic hyperreflexia dysreflexia hyperreflexia, autonomic hyperreflexias, autonomic spinal autonomic Dysreflexia spinal autonomic Dysreflexias autonomic dysreflexia MONDO:0043982 Compression of the ULNAR NERVE in the cubital tunnel, which is formed by the two heads of the flexor carpi ulnaris muscle, humeral-ulnar aponeurosis, and medial ligaments of the elbow. This condition may follow trauma or occur in association with processes which produce nerve enlargement or narrowing of the canal. Manifestations include elbow pain and PARESTHESIA radiating distally, weakness of ulnar innervated intrinsic hand muscles, and loss of sensation over the hypothenar region, fifth finger, and ulnar aspect of the ring finger. (Joynt, Clinical Neurology, 1995, Ch51, p43) cubital tunnel syndrome cubital tunnel syndromes syndrome, cubital tunnel syndromes, cubital tunnel tunnel syndrome, cubital tunnel syndromes, cubital ulnar nerve compression, cubital tunnel ulnar nerve entrapment, elbow cubital tunnel syndrome MONDO:0043985 Inflammation that includes the brain, spinal cord and surrounding tissues secondary to systemic lupus erythematosus (SLE); it is associated with neurological and/or psychiatric features. CNS lupus central nervous system lupus Meningoencephalitides, lupus central nervous system lupus vasculitis central nervous system systemic lupus Erythematosis lupus Meningoencephalitides lupus meningoencephalitis meningoencephalitis, lupus neuropsychiatric systemic lupus erythematosus systemic lupus Erythematosis, central nervous system central nervous system lupus MONDO:0043988 Herpes zoster but without eruption of vesicles. Patients exhibit the characteristic pain minus the skin rash, sometimes making diagnosis difficult. zoster sine herpete Zoster sine Eruptione zoster sine herpete MONDO:0043994 Acute inflammation of the gallbladder. acute cholecystitis acute cholecystitis MONDO:0044001 Hearing loss characterized by a combination of conductive and sensorineural hearing loss. It is caused by problems in both the inner ear and middle or outer ear. mixed conductive and sensorineural deafness mixed conductive and sensorineural hearing loss mixed hearing loss Losses, mixed hearing hearing loss, mixed hearing loss, mixed conductive sensorineural loss, mixed hearing mixed deafness mixed type deafness hearing loss, mixed conductive-sensorineural MONDO:0044013 Disorders or diseases associated with puerperium, the six-to-eight-week period immediately after parturition in humans. disorder of puerperium puerperal disorder disorder, puerperal disorders, puerperal postpartum disorder puerperal disorder MONDO:0044014 A transient autoimmune Inflammatory disorder of thyroid gland that occurs postpartum due to any partum problem. It is characterized by the presence of high titers of autoantibodies against thyroid peroxidase and thyroglobulin. Clinical signs include the triphasic thyroid hormone pattern: beginning with thyrotoxicosis, followed with hypothyroidism, then return to euthyroid state by 1 year postpartum postpartum thyroiditis post partum thyroiditis post-partum thyroiditides post-partum thyroiditis postpartum thyroiditides thyroiditides, post-partum thyroiditides, postpartum thyroiditis, post-partum thyroiditis, postpartum postpartum thyroiditis MONDO:0044033 An acute or subacute reversible condition characterized by headaches, mental status changes, visual disturbances, and seizures associated with imaging findings of posterior leukoencephalopathy. It has been observed in association with hypertensive encephalopathy, eclampsia, and immunosuppressive and cytotoxic drug treatment. PRES Posterior reversible encephalopathy syndrome RPLE posterior reversible encephalopathy syndrome reversible Posterior cerebral edema syndrome reversible Posterior leukoencephalopathy syndrome reversible occipital parietal encephalopathy reversible posterior leukoencephalopathy syndrome leukoencephalopathy syndrome, Posterior leukoencephalopathy syndromes, Posterior syndrome, Posterior leukoencephalopathy syndromes, Posterior leukoencephalopathy posterior leukoencephalopathy syndrome MONDO:0044037 A condition characterized by a reticular or fishnet pattern on the skin of lower extremities and other parts of the body. This red and blue pattern is due to deoxygenated blood in unstable dermal blood vessels. The condition is intensified by cold exposure and relieved by rewarming. livedo reticularis livedo racemosa livedo reticularis MONDO:0044067 A fungal infection by any of the Candida species in a sterile body compartment. candidiases, invasive invasive candidiases invasive candidiasis candidiasis, invasive MONDO:0044070 A form of invasive candidiasis where species of candida are present in the blood. candidemia Candidemias candidemia MONDO:0044079 A disorder of the heart and kidneys in which dysfunction of one of the organs induces dysfunction of the other organ. cardiorenal syndrome Reno Cardiac syndrome Reno-Cardiac syndrome Reno-Cardiac syndromes Renocardiac syndrome Renocardiac syndromes cardio renal syndrome cardio-renal syndromes cardiorenal syndromes syndrome, Reno-Cardiac syndrome, Renocardiac syndrome, cardio-renal syndrome, cardiorenal syndromes, Reno-Cardiac syndromes, Renocardiac syndromes, cardio-renal syndromes, cardiorenal cardio-renal syndrome MONDO:0044083 Opportunistic fungal infection by a member of Alternaria genus. cutaneous alternariosis Alternarioses Alternarioses, cutaneous Alternarioses, dermal Alternarioses, subcutaneous Alternariosis, cutaneous Alternariosis, dermal Alternariosis, subcutaneous cutaneous Alternarioses cutaneous Alternariosis dermal Alternarioses dermal Alternariosis subcutaneous Alternarioses subcutaneous Alternariosis alternariosis MONDO:0044092 A rare disorder affecting the digestive tract. Its cause is unclear but may be attributed, in part, to increased collagen synthesis without adequate fibrolysis. It is characterized histologically by atrophy of mucosal villi and crypts with extensive subepithelial collagen deposition. Clinical signs include nausea, vomiting, diarrhea and weight loss. Unlike celiac sprue (celiac disease), a gluten-free diet does not predict a certain regression of the disease. The clinical course follows a progression of malabsorption leading to nutritional deficiencies, small bowel ulceration/perforation, lymphoma and infection. Prognosis is usually dismal. collagenous sprue non-gluten sensitive enteropathy syndrome Sprues, collagenous collagenous Sprues collagenous enteropathy collagenous enteropathy syndrome non-gluten intolerance syndrome sprue, collagenous collagenous sprue MONDO:0044098 An abnormal pregnancy in which the conception is implanted on the ovary. ectopic pregnancy of ovary ovarian pregnancy ovary ectopic pregnancy Pregnancies, ovarian ovarian Pregnancies ovarian ectopic pregnancy MONDO:0044101 An abnormal pregnancy in which the conception is implanted and develops in the cornu of uterus. cornual pregnancy ectopic pregnancy of uterine horn uterine horn ectopic pregnancy Pregnancies, cornual cornual Pregnancies rudimentary horn pregnancy pregnancy, cornual MONDO:0044113 A manifestation of systemic lupus erythematosus with a widespread vesiculobullous eruption. BSLE bullous systemic lupus erythematosus bullous systemic lupus erythematosus MONDO:0044137 Any disease affecting the vitreous body of the eye. disease of vitreous body disease or disorder of vitreous body disorder of vitreous body vitreous body disease vitreous body disease or disorder vitreous body disorder vitreous body disorder MONDO:0044138 Inflammatory intraocular reaction with clouding and cells in vitreous; often accompanies inflammation of ciliary body, iris, choroid, or retina. Vitreitis Vitritis hyalitis hyaloiditis vitritis hyalitis MONDO:0044141 A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is not a component of this disorder. panic disorder without agoraphobia panic disorder without agoraphobia MONDO:0044144 A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is a component of this disorder. panic disorder with agoraphobia panic disorder with agoraphobia MONDO:0044200 T-B+ severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. T-B+ SCID T-cell negative B-cell positive SCID Editor note: add logical definition T-B+ severe combined immunodeficiency MONDO:0044201 T+B+ SCID T-cell positive B-cell positive SCID T+ B+ severe combined immunodeficiency MONDO:0044202 Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia, characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements. EKD familial PKD familial paroxysmal kinesigenic dyskinesia paroxysmal kinesigenic choreathetosis episodic kinesigenic dyskinesia MONDO:0044203 Underdevelopment of the fovea centralis. FVH foveal hypoplasia MONDO:0044204 https://github.com/monarch-initiative/mondo/issues/4948 Shwachman-Diamond syndrome 1 SDS1 Shwachman-Bodian syndrome Shwachman-Diamond syndrome lipomatosis of pancreas, congenital pancreatic insufficiency and bone marrow dysfunction Shwachman-Diamond syndrome 1 MONDO:0044205 Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia ({1:Stepensky et al., 2017}).nnFor a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM:260400). https://github.com/monarch-initiative/mondo/issues/4948 Shwachman-Diamond syndrome 2 SDS2 Shwachman-Diamond syndrome 2 MONDO:0044206 https://github.com/monarch-initiative/mondo/issues/4948 otospondylomegaepiphyseal dysplasia, autosomal recessive Nance-Insley syndrome Nance-Sweeney chondrodysplasia OSMED OSMEDB Weissenbacher-Zweymuller syndrome Weissenbacher-Zweymuller syndrome, formerly chondrodystrophy with sensorineural deafness otospondylomegaepiphyseal dysplasia, autosomal recessive MONDO:0044207 Any specific granule deficiency in which the cause of the disease is a mutation in the CEBPE gene. https://github.com/monarch-initiative/mondo/issues/4521 specific granule deficiency CEBPE specific granule deficiency specific granule deficiency 1 specific granule deficiency caused by mutation in CEBPE SGD1 lactoferrin-deficient neutrophils neutrophil lactoferrin deficiency specific granule deficiency 1 MONDO:0044208 Specific granule deficiency-2 is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include hypercellularity, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and most patients die in early childhood unless they undergo hematopoietic stem cell transplantation. Some patients may have additional findings, including delayed development, mild dysmorphic features, and distal skeletal anomalies (summary by {2:Witzel et al., 2017}).nnFor a discussion of genetic heterogeneity of SGD, see SGD1 (OMIM:245480). specific granule deficiency 2 SGD2 specific granule deficiency 2 MONDO:0044209 A disease that has its basis in the disruption of complement activation, lectin pathway. complement activation, lectin pathway disease disorder of complement activation, lectin pathway disorder of lectin complement activation pathway MONDO:0044210 The inheritance of only one mutated beta-globin allele (beta+ or beta0). beta thalassemia trait thalassemia minor MONDO:0044211 idiopathic angioedema-urticaria idiopathic urticaria MONDO:0044212 Chronic form of idiopathic urticaria. chronic idiopathic urticaria idiopathic urticaria, chronic chronic idiopathic urticaria MONDO:0044213 Acute form of idiopathic urticaria. acute idiopathic urticaria idiopathic urticaria, acute acute idiopathic urticaria MONDO:0044299 https://github.com/monarch-initiative/mondo/issues/4069 myasthenic syndrome, congenital, 22 CMS22 Prepl deficiency myasthenic syndrome, congenital, 22 MONDO:0044300 Familial adenomatous polyposis-4 is an autosomal recessive tumor predisposition syndrome characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer. Proliferative lesions in other tissues may also occur (summary by {1:Adam et al., 2016}).nnFor a discussion of genetic heterogeneity of familial adenomatous polyposis, see FAP1 (OMIM:175100). FAP4 familial adenomatous polyposis 4 familial adenomatous polyposis type 4 familial adenomatous polyposis 4 MONDO:0044301 aortic aneurysm, familial thoracic 11, susceptibility to AAT11 aortic aneurysm, familial thoracic 11, susceptibility to MONDO:0044302 CHDFIDD congenital heart defects, dysmorphic FACIAL features, and intellectual developmental disorder congenital heart defects, dysmorphic facial features, and intellectual developmental disorder MONDO:0044303 https://github.com/monarch-initiative/mondo/issues/4069 congenital heart defects and ectodermal dysplasia CHDED congenital heart defects and ectodermal dysplasia MONDO:0044304 Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is an autosomal recessive disorder characterized by increased serum phenylalanine usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities and intellectual disability. Laboratory analysis shows dopamine and serotonin deficiencies in the cerebrospinal fluid, and normal BH4 metabolism. Evidence suggests that treatment with neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy (summary by {1:Anikster et al., 2017}). hyperphenylalaninemia due to DNAJC12 deficiency HPANBH4 hyperphenylalaninemia, mild, non-BH4-deficient hyperphenylalaninemia due to DNAJC12 deficiency MONDO:0044305 ectodermal dysplasia 13, hair/tooth type ECTD13 ectodermal dysplasia 13, hair/tooth type MONDO:0044306 Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination is a syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Affected children have hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk, and they tend to show repetitive stereotypic behaviors. Brain imaging shows cerebral atrophy and delayed myelination (summary by {1:Schoch et al., 2017}). https://github.com/monarch-initiative/mondo/issues/3680 https://github.com/monarch-initiative/mondo/issues/5588 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination NECFM severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination MONDO:0044308 BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment ({1:Heon et al., 2016}; {2:Khan et al., 2016}).nnFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM:209900). BBS21 Bardet-Biedl syndrome 21 bardet-biedl syndrome 21 MONDO:0044309 Diamond-Blackfan anemia 16 DBA16 Diamond-Blackfan anemia 16 MONDO:0044310 Diamond-Blackfan anemia 17 DBA17 Diamond-Blackfan anemia 17 MONDO:0044311 BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by {2:Paolini et al., 2017}). brachycephaly, trichomegaly, and developmental delay BTDD Macinnes syndrome brachycephaly, trichomegaly, and developmental delay MONDO:0044312 https://github.com/monarch-initiative/mondo/issues/4948 IMMUNOSKELETAL dysplasia with neurodevelopmental abnormalities ISDNA immunoskeletal dysplasia with neurodevelopmental abnormalities MONDO:0044313 intellectual disability, autosomal recessive 60 MRT60 mental retardation, autosomal recessive 60 intellectual disability, autosomal recessive 60 MONDO:0044314 retinitis pigmentosa 78 RP78 retinitis pigmentosa 78 MONDO:0044315 Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by {1:Fitzpatrick, 2013}).nnFor a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM:123100). https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4882 craniosynostosis 7 craniosynostosis 7, susceptibility to CRS7 Crs7, digenic craniosynostosis 7, digenic craniosynostosis 7 MONDO:0044316 thrombocytopenia, anemia, and myelofibrosis THAMY thrombocytopenia, anemia, and myelofibrosis MONDO:0044317 premature ovarian failure 13 POF13 premature ovarian failure 13 MONDO:0044318 IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by {1:Jansen et al., 2017}). https://github.com/monarch-initiative/mondo/issues/3680 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 Jansen de Vries syndrome intellectual developmental disorder with gastrointestinal difficulties and high pain threshold IDDGIP intellectual developmental disorder with gastrointestinal difficulties and high pain threshold MONDO:0044319 IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by {1:Santiago-Sim et al., 2017}). https://github.com/monarch-initiative/mondo/issues/5588 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies IDDFSDA intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies MONDO:0044320 retinitis pigmentosa 79 RP79 retinitis pigmentosa 79 MONDO:0044321 structural heart defects and renal anomalies syndrome SHDRA structural heart defects and renal anomalies syndrome MONDO:0044322 Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by {2:Srour et al., 2017}). https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/926 intellectual developmental disorder with neuropsychiatric features IDDNPF intellectual developmental disorder with neuropsychiatric features MONDO:0044323 Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. The overgrowth is apparent in infancy and may lessen with time or persist. The phenotype is highly variable; some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. The disorder is thought to result from a defect in epigenetic regulation (summary by {1:Tatton-Brown et al., 2017}). https://github.com/monarch-initiative/mondo/issues/5588 Rahman syndrome RMNS Rahman syndrome MONDO:0044324 Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by {1:Windpassinger et al., 2017}). https://github.com/monarch-initiative/mondo/issues/5588 AL KAISSI syndrome ALKAS Growth retardation, spine malformation, dysmorphic facies, and developmental delay Al Kaissi syndrome MONDO:0044325 Fanconi anemia, complementation group W FANCW Fanconi anemia, complementation group W MONDO:0044326 DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by {1:Hamdan et al., 2017}). https://github.com/monarch-initiative/mondo/issues/3680 https://github.com/monarch-initiative/mondo/issues/5588 developmental delay and seizures with or without movement abnormalities DEDSM developmental delay and seizures with or without movement abnormalities MONDO:0044327 An autosomal dominant disease characterized by adult-onset of liver cysts arising from the bile duct epithelium, caused by heterozygous mutation in the LRP5 gene. Some patients may develop a few kidney cysts, but these are often incidental and do not result in renal failure. polycystic liver disease 4 with or without kidney cysts PCLD4 polycystic liver disease 4 with or without kidney cysts MONDO:0044328 Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {1:Huber and Cormier-Daire, 2012} and {2:Schmidts et al., 2013}).nnThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, OMIM:218330). short-rib thoracic dysplasia 20 with polydactyly SRTD20 short-rib thoracic dysplasia 20 with polydactyly MONDO:0044329 Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life ({1:Doyard et al., 2018}). https://github.com/monarch-initiative/mondo/issues/4948 OI18 osteogenesis imperfecta, type XVIII osteogenesis imperfecta, type 18 MONDO:0044330 Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by {2:Piard et al., 2018}).nnFor a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 (OMIM:149400). hyperekplexia 4 HKPX4 hyperekplexia 4 MONDO:0044332 childhood-onset benign chorea with striatal involvement MONDO:0044333 A syndrome which occurs in individuals with a history of alcohol abuse. It is caused by prolonged alcohol-induced neurological damage and malnutrition including vitamin and electrolyte deficiencies. Clinical signs include altered mental status, visual impairment and decreased muscle coordination. The clinical course varies and is, in part, dependent upon the severity of symptoms at presentation. The prognosis is poor and worsens if alcohol abuse continues. alcohol-induced Wernicke-Korsakoff's syndrome alcohol-induced amnestic syndrome alcoholic Korsakoff's psychosis Editor note: we follow NCIT in making a subtype of KW for alcoholic form, but other sources treat these as equivalent. TODO - check this. alcohol-induced Wernicke-Korsakoff's syndrome MONDO:0044334 A benign, intermediate, or malignant neoplasm that affects the connective and soft tissue. connective and soft tissue neoplasm connective and soft tissue tumor musculoskeletal and soft tissue neoplasm musculoskeletal and soft tissue tumor neoplasm of skeletal and soft tissue neoplasm of soft tissue and bone neoplasm of soft tissue and skeleton skeletal and soft tissue neoplasm skeletal and soft tissue tumor soft tissue and bone neoplasm soft tissue and bone tumor tumor of skeletal and soft tissue tumor of soft tissue and bone tumor of soft tissue and skeleton Editor note: we follow NCIT in making this a grouping of all soft tissue and connective tissue neoplasms, including bone connective and soft tissue neoplasm MONDO:0044335 A non-metastasizing neoplasm that arises from the soft tissue. benign neoplasm of soft tissue benign neoplasm of the soft tissue benign soft tissue neoplasm benign soft tissue tumor benign tumor of soft tissue benign tumor of the soft tissue soft tissue neoplasm, benign benign soft tissue neoplasm MONDO:0044336 An invasive colorectal adenocarcinoma characterized by the presence of malignant glandular epithelial cells with prominent intracytoplasmic mucin resulting in the displacement of the nuclei. The malignant glandular cells with intracytoplasmic mucin constitute more than 50% of the malignant cellular infiltrate. colorectal signet Ring cell carcinoma colorectal signet ring cell carcinoma MONDO:0044337 A malignant neoplasm characterized by the presence of atypical mesenchymal-stromal cells. Representative examples include endometrial stromal sarcoma and prostate stromal sarcoma. stromal sarcoma stromal sarcoma, malignant stromal tumor, malignant stromal sarcoma MONDO:0044338 An autoimmune form of primary ovarian failure. primary ovarian failure arising through autoimmunity autoimmune primary ovarian failure MONDO:0044339 Any degenerative disorder affecting one or more vertebral discs of the lumbar spine. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5633 IDD degenerative disc disease degenerative disc disorder intervertebral DISC disease intervertebral disc disease degeneration of lumbar intervertebral disc intervertebral disc degenerative disorder of lumbar region of vertebral column intervertebral disc disease, susceptibility to lumbar Disc Degeneration lumbar Disc degenerative disease lumbar Disc degenerative disorder lumbar disc disease, susceptibility to lumbar region of vertebral column intervertebral disc degenerative disorder lumbar disc degeneration, susceptibility to lumbar disc disease lumbar disc herniation, susceptibility to lumbar disc degenerative disorder MONDO:0044342 Any degenerative disorder affecting one or more vertebral discs of the thoracic spine. degeneration of thoracic intervertebral disc intervertebral disc degenerative disorder of thoracic region of vertebral column thoracic Disc Degeneration thoracic Disc degenerative disease thoracic Disc degenerative disorder thoracic region of vertebral column intervertebral disc degenerative disorder thoracic disc degenerative disorder MONDO:0044343 Any degenerative disorder affecting one or more vertebral discs of the cervical spine. cervical Disc Degeneration cervical Disc degenerative disease cervical Disc degenerative disorder cervical region of vertebral column intervertebral disc degenerative disorder degeneration of cervical intervertebral disc intervertebral disc degenerative disorder of cervical region of vertebral column cervical disc degenerative disorder MONDO:0044344 An infection that is caused by Schistosoma japonicum. Schistosoma japonicum caused disease or disorder Schistosoma japonicum disease or disorder Schistosoma japonicum infection Asiatic schistosomiasis Katamaya fever Katamaya syndrome Katayama disease schistosomiasis japonicum Schistosoma japonicum infectious disease MONDO:0044345 An infection that is caused by Schistosoma mansoni. Schistosoma mansoni caused disease or disorder Schistosoma mansoni disease or disorder Schistosoma mansoni infection Schistosoma mansoni infectious disease MONDO:0044346 An disease or disorder caused by infection with Echinococcus granulosus. Echinococcus granulosus caused disease or disorder Echinococcus granulosus disease or disorder Echinococcus granulosus infectious disease echinococcus granulosus infection echinococcus granulosus infectious disease unilocular hydatid disease echinococcus granulosus infectious disease MONDO:0044347 A disease or disorder that involves the erythrocyte. disease of erythrocyte disease or disorder of erythrocyte disorder of erythrocyte erythrocyte disease erythrocyte disease or disorder red blood cell disease red blood cell disorder erythrocyte disorder MONDO:0044348 hemoglobinopathy globin abnormality hemoglobin disease hemoglobin disorder hemoglobinopathy MONDO:0044349 An instance of hemoglobinopathy that is acquired during the lifetime of the individual. acquired hemoglobinopathy acquired hemoglobinopathy MONDO:0044350 hyperparathyroidism, primary, caused by water clear cell hyperplasia hyperparathyroidism, primary, caused by water clear cell hyperplasia MONDO:0044351 An disease or disorder caused by infection with Schistosoma intercalatum. Schistosoma intercalatum caused disease or disorder Schistosoma intercalatum disease or disorder infection by Schistosoma intercalatum infection caused by Schistosoma intercalatum Schistosoma intercalatum infectious disease MONDO:0044355 Isolated sternocostoclavicular hyperostosis is a rare rheumatologic disease characterized by predominantly bilateral, chronic, sterile inflammation and progressive sclerosis and hyperostosis of the sternocostoclavicular joint, with adjacent soft tissue ossification, in the absence of other joint involvement. It presents as recurrent episodes of pain, edema and/or erythema of the sternoclavicular region. Palmoplantar pustulosis may be additionally observed in some cases. isolated SCCH isolated sternocostoclavicular hyperostosis MONDO:0044406 Stoll-Alembik-Finck syndrome arthrogryposis-ectodermal dysplasia-other anomalies syndrome MONDO:0044617 https://github.com/monarch-initiative/mondo/issues/5682 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome MONDO:0044618 https://github.com/monarch-initiative/mondo/issues/5588 CLCN4-related X-linked intellectual disability syndrome MONDO:0044619 Propylthiouracil embryofetopathy is a rare teratologic disease characterized by variable congenital anomalies resulting from maternal treatment and prenatal exposure to propylthiouracil. Anomalies frequently encountered include ear malformations (e.g. accessory auricle, preauricular sinus/fistula/cyst), urinary system malformations (e.g. isolated unilateral kidney, congenital hydronephrosis), gastrointestinal anomalies (e.g. congenital bands with intestinal malrotation) and cardiac defects (e.g. situs inversus dextrocardia, cardiac outflow tract defects). PTU embryofetopathy PTU embryopathy propylthiouracil embryopathy propylthiouracil embryofetopathy MONDO:0044621 16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers. tetrasomy 16p12.1-p12.3 tetrasomy 16p12.1p12.3 trip(16)(p12.1p12.3) 16p12.1p12.3 triplication syndrome MONDO:0044622 EMILIN-1-related connective tissue disease MONDO:0044624 childhood-onset collagenous gastritis pediatric collagenous gastritis MONDO:0044625 CMT2 due to DGAT2 mutation autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation MONDO:0044626 female infertility due to oocyte meiotic arrest MONDO:0044627 AMNR acute macular neuroretinopathy MONDO:0044628 SIX2-related FND six2-related frontonasal dysplasia MONDO:0044629 https://github.com/monarch-initiative/mondo/issues/4069 amyoplasia congenita congenital amyoplasia MONDO:0044631 early-onset familial noncirrhotic portal hypertension MONDO:0044632 ECAA Ecca extracranial carotid artery aneurysm MONDO:0044633 IPPFE idiopathic pleuropulmonary fibroelastosis idiopathic pleuroparenchymal fibroelastosis MONDO:0044634 https://github.com/monarch-initiative/mondo/issues/4521 retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome short stature, hearing loss, retinitis pigmentosa, and distinctive facies retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome MONDO:0044635 DIAPH1-related sensorineural deafness-thrombocytopenia syndrome diaph1-related sensorineural hearing loss-thrombocytopenia syndrome diaph1-related sensorineural hearing loss-thrombocytopenia syndrome MONDO:0044637 infantile-onset orofacial-trunk-limbs dyskinesia infantile-onset generalized dyskinesia with orofacial involvement MONDO:0044638 A squamous cell carcinoma that involves the hypopharynx. epidermoid carcinoma of hypopharynx epidermoid carcinoma of the hypopharynx hypopharyngeal epidermoid carcinoma hypopharyngeal squamous cell carcinoma hypopharyngeal throat squamous cell cancer squamous cell carcinoma of hypopharynx squamous cell carcinoma of the hypopharynx hypopharynx squamous cell carcinoma MONDO:0044640 AR-CMT2T CMT2T autosomal recessive axonal Charcot-Marie-Tooth disease type 2T Charcot-Marie-Tooth disease type 2T MONDO:0044641 https://github.com/monarch-initiative/mondo/issues/3664 9q33.3-q34.11 microdeletion syndrome Del(9)(q33.3q34.11) deletion 9q33.3q34.11 monosomy 9q33.3-q34.11 monosomy 9q33.3q34.11 9q33.3q34.11 microdeletion syndrome MONDO:0044642 C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy hypomyelinating leukodystrophy due to hikeshi deficiency c11orf73-related autosomal recessive hypomyelinating leukodystrophy MONDO:0044643 https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/5588 congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome MONDO:0044644 https://github.com/monarch-initiative/mondo/issues/4069 congenital absence of the scrotum congenital scrotal absence congenital scrotal agenesis congenital agenesis of the scrotum MONDO:0044645 familial monosomy 7 syndrome MONDO:0044646 https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/5671 PEBAT encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum; PEBAT early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome MONDO:0044647 kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome MONDO:0044648 kyphoscoliosis-lateral tongue atrophy-HSP syndrome kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome MONDO:0044649 Gershoni-Baruch syndrome omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome MONDO:0044651 https://github.com/monarch-initiative/mondo/issues/5588 early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome MONDO:0044655 https://github.com/monarch-initiative/mondo/issues/5588 C12ORF65-related COXPD c12orf65-related combined oxidative phosphorylation defect MONDO:0044656 Epidermal nevus with epidermolytic hyperkeratosis epidermolytic epidermal nevus epidermolytic verrucous epidermal nevus epidermolytic nevus MONDO:0044657 MME-related autosomal dominant CMT2 MME-related autosomal dominant hereditary motor and sensory neuropathy type 2 MME-related autosomal dominant Charcot Marie Tooth disease type 2 MONDO:0044660 https://github.com/monarch-initiative/mondo/issues/4521 luteal-phase-dependent febrile episode luteal-phase-dependent periodic fever menstrual cycle-dependent febrile episode periodic fever, menstrual cycle dependent periodic fever, menstrual cycle-dependent menstrual cycle-dependent periodic fever MONDO:0044663 Aquagenic syringeal acrokeratoderma is a rare condition affecting the palms of the hands. It is characterized by the appearance or worsening of a palmar eruption, following brief exposure to water. The palmar eruption is made up of small, white or shining pimples that can conjoin into plaques. The feet are unaffected. Symptoms include a burning pain and a tightening sensation in the palms, as well as too much sweating. There are two variants. Most commonly, it is a temporary and recurrent condition that appears after submersion in water, known as the bhand in the bucket sign,b that gets better within minutes to hours of drying. A less common variant is characterized by persistent lesions that are worsened after water submersion. The cause of aquagenic syringeal acrokeratoderma is unknown, but likely relates to sweating. Several studies have found that it is present in about 40% to 84% of cystic fibrosis patients and also in carriers, which suggest that it may be caused by mutations in the CFTR gene. It is more often found in young women. Besides cystic fibrosis, it is also seen in wasting (marasmus) and nephrotic syndrome and also with the use of aspirin and other drugs such as rofecoxib and celecoxib. In most cases it does not need any treatment and resolves spontaneously. When necessary, it can be treated with topical aluminum chloride or salicylic acid ointment or with tap water iontophoresis. aquagenic keratoderma aquagenic palmoplantar keratoderma aquagenic syringeal acrokeratoderma aquagenic wrinkling of the palms transient reactive papulotranslucent acrokeratoderma Transient reactive papulotranslucent acrokeratoderma aquagenic wrinkling of the hands aquagenic palmoplantar keratoderma MONDO:0044675 LRP5-related primary osteoporosis MONDO:0044682 MYBPC1-related autosomal recessive non-lethal AMC syndrome MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome MONDO:0044683 https://github.com/monarch-initiative/mondo/issues/5802 2023-04-01 Reason of obsoletion: out of scope - cross-reference obsolete at the source (MONDO:excludeObsoleteSource). Term to consider: none- limbic encephalitis with neurexin-3 antibodies MONDO:0044685 autoimmune/inflammatory optic neuropathy MONDO:0044687 CRION chronic recurrent isolated optic neuritis chronic relapsing inflammatory optic neuropathy MONDO:0044688 ion isolated optic neuritis MONDO:0044689 RINR recurrent idiopathic neuroretinitis MONDO:0044690 OPN optic perineuritis MONDO:0044696 https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/5671 PEBAS encephalopathy, progressive, early-onset, with brain atrophy and spasticity early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome MONDO:0044699 https://github.com/monarch-initiative/mondo/issues/5588 SIN3A-related intellectual disability syndrome MONDO:0044700 SIN3A-related intellectual disability syndrome due to a point mutation MONDO:0044701 https://github.com/monarch-initiative/mondo/issues/5588 UBTF-related disorder CONDBA neurodegeneration, childhood-onset, with brain atrophy childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder MONDO:0044702 https://github.com/monarch-initiative/mondo/issues/4521 DFNX7 deafness, X-linked 7 deafness, X-linked 7, X-linked recessive X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome MONDO:0044704 A squamous cell carcinoma that involves the oropharynx. epidermoid carcinoma of oropharynx epidermoid carcinoma of the oropharynx oropharyngeal epidermoid carcinoma oropharyngeal squamous cell carcinoma oropharyngeal throat squamous cell cancer squamous cell carcinoma of oropharynx squamous cell carcinoma of the oropharynx oropharynx squamous cell carcinoma MONDO:0044705 A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid, frontal, maxillary, or sphenoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis. epidermoid carcinoma of paranasal sinus epidermoid carcinoma of the paranasal sinus paranasal sinus epidermoid carcinoma paranasal sinus squamous cell carcinoma squamous cell carcinoma of paranasal sinus squamous cell carcinoma of the nasal cavity and sinuses squamous cell carcinoma of the paranasal sinus squamous cell carcinoma of the nasal cavity and paranasal sinuses paranasal sinus squamous cell carcinoma MONDO:0044709 cochleovestibular dysplasia MONDO:0044710 A squamous cell carcinoma arising from the lip or the oral cavity. The oral cavity squamous cell carcinoma usually arises from the buccal mucosa, tongue, or gums. It occurs predominantly in adults who use tobacco and alcohol and has a tendency to metastasize early to lymph nodes. lip and oral cavity squamous cell cancer lip and oral cavity squamous cell carcinoma lip/oral cavity squam. cell car. squamous cell carcinoma of oral cavity and lip lip and oral cavity squamous cell carcinoma MONDO:0044714 mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome MMYAT myopathy, mitochondrial, and ataxia mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044715 metopic ridging-ptosis-facial dysmorphism syndrome MONDO:0044717 https://github.com/monarch-initiative/mondo/issues/3664 proximal del(4)(q25) proximal monosomy 4q25 4q25 proximal deletion syndrome MONDO:0044718 ACER3-related early childhood-onset progressive leukodystrophy leukodystrophy due to alkaline ceramidase 3 deficiency PLDECO leukodystrophy, progressive, early childhood-onset alkaline ceramidase 3 deficiency MONDO:0044719 A severe, sometimes life-threatening, form of erythema multiforme. It is considered to be a hypersensitivity skin reaction triggered by a variety of stimuli, including infections and medication. It is characterized by raised, edematous papules in the extremities; involvement of one or more mucous membranes; and epidermal detachment involving less than ten percent of the total body surface area. erythema exsudativum multiforme majus erythema multiforme majus erythema multiforme major MONDO:0044720 https://github.com/monarch-initiative/mondo/issues/4894 CABV syndrome CANVAS cerebellar ataxia with bilateral vestibulopathy syndrome cerebellar ataxia, neuropathy, and vestibular areflexia syndrome cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome MONDO:0044721 SCID due to LAT deficiency IMD52 immunodeficiency 52 severe combined immunodeficiency due to LAT deficiency MONDO:0044723 3-methylglutaconic aciduria type VIII, MGCA8 3-methylglutaconic aciduria, type VIII 3-methylglutaconic aciduria, type VIII; MGCA8 MGA8 MGCA8 3-Methylglutaconic aciduria, type 8 3-methylglutaconic aciduria type VIII 3-methylglutaconic aciduria type 8 MONDO:0044724 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome 3-methylglutaconic acuduria type IX, MGCA9 MGA9 3-METHYLGLUTACONIC aciduria, type IX 3-Methylglutaconic aciduria, type 9 3-methylglutaconic acuduria type IX MGCA9 3-methylglutaconic aciduria type 9 MONDO:0044725 https://github.com/monarch-initiative/mondo/issues/3191 CID due to GINS1 deficiency combined immunodeficiency with intrauterine growth retardation-NK cell deficiency-neutropenia combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia IMD55 immunodeficiency 55 combined immunodeficiency due to GINS1 deficiency MONDO:0044726 Cerebrorenal syndrome, Perez type BILAPES Birk-Landau-Perez syndrome psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome MONDO:0044727 A rare carcinoma with a poor prognosis, characterized by the presence of a mixture of exocrine and neuroendocrine malignant epithelial cells in both the pancreas and metastatic sites. Symptoms include jaundice, abdominal pain, and weight loss. MiNEN of pancreas mixed exocrine-endocrine carcinoma of the pancreas pancreatic MiNEN pancreatic carcinoma with mixed differentiation pancreatic mixed neuroendocrine-nonneuroendocrine neoplasm mixed neuroendocrine-nonneuroendocrine neoplasm of pancreas pancreatic carcinoma with mixed differentiation MONDO:0044737 https://github.com/monarch-initiative/mondo/issues/5588 autosomal recessive complex SPG due to Kennedy pathway dysfunction autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction MONDO:0044738 https://github.com/monarch-initiative/mondo/issues/5588 YY1 haploinsufficiency syndrome GADEVS Gabriele-De Vries syndrome Gabriele-de Vries syndrome Gabriele de Vries syndrome MONDO:0044739 SJS/TEN overlap syndrome Stevens-Johnson/TEN overlap syndrome Stevens-Johnson/toxic epidermal necrolysis overlap syndrome Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome MONDO:0044740 A squamous cell carcinoma arising from the salivary glands. The majority of patients are in their sixth through eight decades. It usually presents as a rapidly enlarging mass, which may be painful. It usually has an aggressive clinical course. SCC of salivary gland SCC of the salivary gland epidermoid carcinoma of salivary gland epidermoid carcinoma of the salivary gland saliva-secreting gland squamous cell carcinoma salivary gland SCC salivary gland epidermoid carcinoma salivary gland squamous cell cancer salivary gland squamous cell carcinoma squamous cell carcinoma of salivary gland squamous cell carcinoma of the salivary gland squamous cell carcinoma of salivary glands salivary gland squamous cell carcinoma MONDO:0044742 AREI autosomal recessive epidermolytic ichthyosis MONDO:0044743 A primary or metastatic malignant neoplasm affecting the major salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma. cancer of major salivary gland malignant major salivary gland neoplasm malignant major salivary gland tumor malignant neoplasm of major salivary gland malignant neoplasm of the major salivary gland malignant tumor of major salivary gland malignant tumor of the major salivary gland malignant neoplasm of major salivary glands major salivary gland cancer MONDO:0044744 A condition characterized by the congenital or acquired deficiency of prekallikrein. This deficiency is usually not associated with bleeding. The congenital deficiency is very rare. Acquired deficiency may occur in diffuse intravascular coagulation, infections, and sickle cell disease. prekallikrein deficiency prekallikrein deficiency MONDO:0044745 Traumatic injuries to the brain, cranial nerves, spinal cord, autonomic nervous system, or neuromuscular system, including iatrogenic injuries induced by surgical procedures. injury of nervous system nervous system injury Injuries, craniocervical Injuries, nervous system craniocervical Injuries craniocervical injury injury, craniocervical injury, nervous system nervous system Injuries nervous system Traumas nervous system trauma nervous system injury MONDO:0044746 A bacterial infection that is transmitted from animals to people. https://github.com/monarch-initiative/mondo/issues/5898 2023-05-01 Bacteria caused zoonoses Bacteria zoonoses zoonotic bacterial disease zoonotic bacterial infection Reason of obsoletion: out of scope - MONDO:excludeEvent. Term to consider: - zoonotic bacterial infection MONDO:0044747 An infection that is caused by Anaplasma phagocytophilum, which is transmitted to humans by infected ticks; it is characterized by fever, headache, chills, and myalgia. https://github.com/monarch-initiative/mondo/issues/5537 anaplasmoses anaplasmosis human anaplasmosis human anaplasmosis MONDO:0044749 X-linked congenital stationary night blindness (XLCSNB) is a disorder of the retina. People with this condition typically experience night blindness and other vision problems, including loss of sharpness (reduced visual acuity), severe nearsightedness (myopia), nystagmus,and strabismus. Color vision is typically not affected. These vision problems are usually evident at birth, but tend to be stable (stationary) over time. There aretwo major types of XLCSNB: the complete form and the incomplete form. Bothtypes have very similar signs and symptoms. However, everyone with the complete form has night blindness, while not all people with the incomplete form have night blindness. The types are distinguished by their genetic cause. https://github.com/monarch-initiative/mondo/issues/4069 X-linked CSNB XLCSNB congenital stationary night blindness, X-linked X-linked congenital stationary night blindness MONDO:0044750 Lassa virus infection infection caused by Lassa virus lassa virus infectious disease MONDO:0044751 Chronic form of diarrheal disease. chronic diarrhea diarrheal disease, chronic chronic diarrheal disease MONDO:0044753 A spinal stenosis that involves the lumbar region of vertebral column. lumbar region of vertebral column spinal stenosis lumbar spinal stenosis spinal stenosis of lumbar region spinal stenosis of lumbar region of vertebral column lumbar spinal stenosis MONDO:0044762 A diarrhea that results from increased motility in the bowel; significant increases in bowel motility can deliver excessively large volumes of stool to the colon. Diarrhea can result when the maximum colonic absorptive capacity of 4 liters a day is exceeded. Also, an alteration in colonic motility such that bowel contents are emptied before adequate absorption can occur has been offered as a possible explanation for the diarrhea associated with irritable bowel disease. motility-related diarrhea diarrhea from increased bowel motility diarrheal disease secondary to increased bowel motility MONDO:0044763 A diarrhea that results from decreased motility in the bowel; the resultant bowel stasis encourages bacterial overgrowth and subsequent bile salt deconjugation. Diarrhea is then the direct result of fat malabsorption and increased colonic secretion. diarrhea from decreased bowel motility diarrheal disease secondary to decreased bowel motility MONDO:0044764 benign choroid plexus neoplasm benign choroid plexus neoplasms benign choroid plexus tumor benign choroid plexus tumors benign neoplasm of choroid plexus benign neoplasm of the choroid plexus benign tumor of choroid plexus benign tumor of the choroid plexus benign choroid plexus neoplasm MONDO:0044765 Nephrotic syndrome, occurring in the pediatric population, in which proteinuria does not normalize with administration of steroids; this condition is unresponsive to a minimum of four weeks administration of oral corticosteroids. nephrotic syndrome of childhood - steroid resistant nephrotic syndrome-steroid-resistant steroid-resistant nephrotic syndrome nephrotic syndrome, idiopathic, steroid-resistant nephrotic syndrome, steroid-resistant, autosomal recessive NPHS2 SRNS - steroid-resistant nephrotic syndrome steroid-unresponsive nephrotic syndrome steroid-resistant nephrotic syndrome MONDO:0044767 A rare pheochromocytoma of the adrenal gland that occurs during childhood. childhood adrenal gland pheochromocytoma malignant childhood adrenal gland pheochromocytoma pheochromocytoma, childhood childhood adrenal gland pheochromocytoma MONDO:0044768 A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the vagus nerve. Patients may present with a slow growing, painless mass in the neck, hoarseness, vocal cord paralysis, and dysphagia. paraganglioma of the vagal body paraganglioma of the vagus nerve paraganglioma of vagal body paraganglioma of vagus nerve vagal body paraganglioma vagal paraganglioma vagus nerve paraganglioma vagus nerve paraganglioma MONDO:0044776 Premature ovarian failure-10 (POF10) represents a syndrome characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells.nnFor a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (OMIM:311360).nnFor a discussion of genetic heterogeneity of age at natural menopause, see MENOQ1 (OMIM:300488). premature ovarian failure 10 Pof10 menopause, natural, Age At, quantitative trait locus 3 premature ovarian failure 10 MONDO:0044777 premature ovarian failure 14 GDF9-related primary ovarian insufficiency POF14 premature ovarian failure 14 MONDO:0044778 A monoclonal B-cell neoplasm characterized by a nodular, or a nodular and diffuse proliferation of scattered large neoplastic cells known as popcorn or lymphocyte predominant cells (LP cells)- formerly called L&H cells for lymphocytic and/or histiocytic Reed-Sternberg cell variants. The LP cells lack CD15 and CD30 in nearly all instances. Patients are predominantly male, frequently in the 30-50 year age group. Most patients present with limited stage disease (localized peripheral lymphadenopathy, stage I or II). (WHO 2008) Hodgkin lymphoma nodular LP, NOS Hodgkin lymphoma nodular lymphocyte predominant type, NOS NLPHL nodular lymphocyte predominant Hodgkin lymphoma nodular lymphocyte predominant Hodgkin's lymphoma nodular lymphocyte-predominant Hodgkin lymphoma nodular lymphocyte predominant Hodgkin lymphoma MONDO:0044781 Nephrotic syndrome, occurring in the pediatric population, characterized by the normalization of proteinuria with the administration of corticosteroids. nephrotic syndrome of childhood - steroid sensitive steroid-responsive nephrotic syndrome steroid-sensitive nephrotic syndrome nephrotic syndrome of childhood - steroid sensitive MONDO:0044782 An ulcerated lesion in the esophageal wall. esophageal ulcer esophagus ulcer esophagus ulcer disease ulcer disease of esophagus esophageal ulcer MONDO:0044783 A well circumscribed, low grade neoplasm that arises from the breast. It is characterized by the presence of sheets of malignant epithelial cells that are supported by fibrovascular structures. When there is an invasive component present, it is usually a mucinous carcinoma. solid Papillary breast carcinoma solid Papillary carcinoma of the breast solid papillary breast carcinoma MONDO:0044784 A benign soft tissue neoplasm characterized by the presence of spindle and stellate cells, lobulated growth pattern, and myxoid stroma formation. https://github.com/monarch-initiative/mondo/issues/5537 MYXOMA, BENIGN Myxoma myxoma MONDO:0044785 A melanoma of the skin characterized by a proliferation of atypical spindled melanocytes in the dermis, in a background of abundant collagen. It usually presents as an amelanotic raised nodular lesion. desmoplastic cutaneous (skin) melanoma desmoplastic melanoma desmoplastic melanoma MONDO:0044786 A low-grade malignant neoplasm that arises from the exocrine pancreas. It is characterized by the presence of uniform cells that form solid and pseudopapillary patterns, cystic changes, and hemorrhage. Perineural invasion, vascular invasion, and invasion into surrounding tissues may be present. It usually presents as an encapsulated, solitary, and lobulated pancreatic mass. It is usually found incidentally during physical examination or it may present with abdominal discomfort and pain. It occurs predominantly in young women. Complete removal of the tumor is curative in the majority of cases. Frantz tumor solid pseudopapillary neoplasm of the pancreas solid pseudopapillary tumor of the pancreas solid pseudopapillary neoplasm of the pancreas MONDO:0044787 A rare, keratinizing or non-keratinizing squamous cell carcinoma arising from the mucosal epithelium of the nasal cavity or the paranasal sinuses. It affects most often the maxillary sinus. Less frequently, it arises from the nasal cavity, ethmoid sinus, sphenoid sinus, and frontal sinus. Symptoms include nasal fullness, epistaxis, rhinorhea, pain, and paresthesia. Patients with nasal squamous cell carcinoma usually present earlier than patients with maxillary sinus carcinoma and have a better prognosis compared to the latter group. nasal cavity and paranasal sinus squamous cell cancer nasal cavity and paranasal sinus squamous cell carcinoma Editor note: TODO add uberon term nasal cavity and paranasal sinus squamous cell carcinoma MONDO:0044788 An intrahepatic cholangiocarcinoma that arises from the intrahepatic large bile ducts. perihilar ICC perihilar bile duct carcinoma perihilar intrahepatic cholangiocarcinoma perihilar cholangiocarcinoma perihilar intrahepatic cholangiocarcinoma MONDO:0044789 An adenocarcinoma arising from the sweat glands. Most cases present as nodular lesions on the digits, usually in the hands. It is characterized by the presence of epithelial cells in the dermis forming nodules. Cystic structures containing papillary projections are also present. It may recur and metastasize, most commonly to the lungs. digit papillary eccrine carcinoma digital papillary carcinoma digital papillary carcinoma of skin digital papillary eccrine carcinoma papillary digital eccrine carcinoma papillary eccrine carcinoma of digit digital papillary eccrine carcinoma MONDO:0044791 A rare tumor containing unequivocal elements of both hepatocellular and cholangiocarcinoma that are intimately admixed. This tumor should be distinguished from separate hepatocellular carcinoma and cholangiocarcinoma arising in the same liver. The prognosis of this tumor is poor. carcinoma of liver and intrahepatic biliary tract liver and intrahepatic biliary tract carcinoma Cholangiohepatoma Hepatocholangiocarcinoma Mixed hepatocellular cholangiocarcinoma carcinoma of the liver and intrahepatic biliary tract combined hepatocellular cancer and cholangiocarcinoma (bile duct cancer) combined hepatocellular cancer and intrahepatic bile duct cancer (cholangiocarcinoma) combined hepatocellular carcinoma and cholangiocarcinoma combined hepatocellular carcinoma and cholangiocarcinoma MONDO:0044792 A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4659 GMN LCMN bathing trunk nevus congenital melanocytic nevi congenital melanocytic nevus congenital melanocytic nevus of skin congenital melanocytic nevus of the skin congenital nevus of skin congenital nevus of the skin congenital pigmented melanocytic Nevus congenital pigmented nevus congenital pigmented nevus of skin congenital pigmented nevus of the skin congenital pigmented skin nevus congenital skin nevus giant congenital nevus giant pigmented hairy nevus giant pigmented nevus of skin giant pigmented nevus of the skin large congenital melanocytic nevus melanocytic nevus syndrome, congenital, somatic spitz nevus or nevus spilus, somatic CMNS GPHN congenital giant pigmented nevus congenital hairy nevus congenital nevus giant congenital melanocytic nevus giant congenital pigmented Nevus giant hairy nevus giant pigmented nevus melanocytic nevus syndrome, congenital nevus spilus pigmented moles spitz nevus large congenital melanocytic nevus https://rarediseases.info.nih.gov/diseases/2469/giant-congenital-nevus MONDO:0044793 A benign, acquired or congenital, usually single skin lesion. It can occur on any area of the body, but most commonly occurs on the face of children and the thighs of young females. It is characterized by a proliferation of large spindle, oval, or large epithelioid melanocytes in the dermal-epidermal junction. The melanocytic proliferation subsequently extends into the dermis. benign juvenile melanoma juvenile nevus spindle and/ or epithelioid cell Nevus spitz nevus spitz naevus spitz nevi spitz nevus MONDO:0044794 A benign, circumscribed proliferation of melanocytes in the skin. Variants include the Spitz nevus, halo nevus, blue nevus, and balloon cell nevus. benign melanocytic nevus benign melanocytic nevus of skin benign melanocytic nevus of the skin benign melanocytic skin nevus benign mole benign nevus of skin benign nevus of the skin benign skin nevus Editor note: TODO logical def benign melanocytic skin nevus MONDO:0044795 A nevus characterized by the presence of large epithelioid melanocytes. epithelioid cell nevus epithelioid cell nevus MONDO:0044796 A nevus characterized by the presence of spindle-shaped melanocytes. spindle cell nevus spindle cell nevus MONDO:0044797 A benign melanocytic nevus characterized by the presence of desmoplastic stroma. Desmoplastic Nevus desmoplastic nevus MONDO:0044800 A Spitz nevus associated with fibrous stroma formation. Desmoplastic spitz Nevus desmoplastic spitz nevus MONDO:0044807 An instance of dystonic disorder that is caused by an inherited modification of the individual's genome. familial dystonia hereditary dystonic disorder rare genetic dystonia rare genetic dystonic disorder inherited dystonia MONDO:0044811 Torsion dystonia for which no underlying cause has been identified. Idiopathic torsion dystonia idiopathic torsion dystonia primary torsion dystonia Schwalbe disease Ziehen-oppenheim disease dystonia deformans progressiva dystonia musculorum deformans idiopathic torsion dystonia MONDO:0044816 An instance of idiopathic torsion dystonia that is caused by an inherited modification of the individual's genome. familial Idiopathic dystonia hereditary idiopathic torsion dystonia idiopathic familial dystonia genetic torsion dystonia familial idiopathic torsion dystonia MONDO:0044817 An instance of idiopathic torsion dystonia that is acquired during the lifetime of the individual. acquired idiopathic torsion dystonia idiopathic non-familial dystonia non-Familial Idiopathic dystonia acquired idiopathic torsion dystonia MONDO:0044843 torsion dystonia torsion dystonia MONDO:0044870 An instance of torsion dystonia that is acquired during the lifetime of the individual. acquired torsion dystonia acquired torsion dystonia MONDO:0044871 FTSD dystonia, focal, task-specific musician's cramp focal hand dystonia focal task-specific dystonia musician's dystonia occupational cramp occupational dystonia task-specific dystonia task-specific focal dystonia dystonia, focal, task-specific MONDO:0044872 An acute or chronic disorder, affecting the sympathetic or parasympathetic nervous system. It can be primary, the result of central nervous system degeneration, or secondary due to diabetes or alcoholism. Patients with the chronic form of this disorder usually have a progressive clinical course and a poor prognosis. dysautonomia dysautonomia MONDO:0044873 An uncommon hematologic malignancy occurring during childhood. Many of the morphologic, immunophenotypic, and genetic changes seen in adult myelodysplastic syndromes are also observed in the childhood variants of the disease. Children present with neutropenia and thrombocytopenia more often than adults, and bone marrow hypocellularity is more often seen in children than adults. myelodysplastic syndrome childhood MDS childhood myelodysplastic syndrome childhood myelodysplastic syndrome MONDO:0044874 The most common subtype of the myelodysplastic syndromes affecting children. It is characterized by persistent cytopenia with less than 5% blasts in the bone marrow and less than 2% blasts in the peripheral blood. RCC refractory cytopenia of childhood refractory cytopenia of childhood MONDO:0044875 A disorder affecting the smallest coronary arteries. Causes include atherosclerosis and arterial spasm. Chest pain is a frequently observed symptom. CMD coronary microvascular disease heart disease of microvascular endothelium microvascular endothelium heart disease coronary microvascular disorder MONDO:0044876 A potentially life-threatening hypersensitivity reaction to a pharmacologic substance that is characterized by rash, lymphadenopathy, fever, hematologic abnormalities and involvement of one or more internal organs. https://github.com/monarch-initiative/mondo/issues/5537 DHS Drug hypersensitivity syndrome Drug reaction with eosinophilia and Systemic symptoms dress drug hypersensitivity syndrome MONDO:0044877 A rare, immune-mediated disorder characterized by cerebellar degeneration due to the presence of an often undetected malignancy (usually carcinoma or lymphoma) in an anatomic site other than the cerebellum. Signs and symptoms include progressive ataxia, dysarthria, and nystagmus. paraneoplastic cerebellar Degeneration paraneoplastic cerebellar degeneration MONDO:0044878 A germ cell tumor that occurs during adulthood. germ cell tumor Adult germ cell tumor germ cell tumor of adults adult germ cell tumor MONDO:0044879 A non-invasive or invasive cystic epithelial neoplasm that affects almost exclusively females. It is characterized by the presence of columnar mucin-producing epithelial cells and ovarian-type stroma formation. Pancreatic mucinous cystic neoplasm Pancreatic mucinous-cystic neoplasm mucinous cystic neoplasm pancreatic mucinous-cystic neoplasm MONDO:0044880 cystic tumor of the pancreas MONDO:0044881 A neoplasm arising from hematopoietic cells found in the bone marrow, peripheral blood, lymph nodes and spleen (organs of the hematopoietic system). Hematopoietic cell neoplasms can also involve other anatomic sites (e.g. central nervous system, gastrointestinal tract), either by metastasis, direct tumor infiltration, or neoplastic transformation of extranodal lymphoid tissues. The commonest forms are the various types of leukemia, Hodgkin and non-Hodgkin lymphomas, myeloproliferative neoplasms, and myelodysplastic syndromes. HEMOLYMPHORETICULAR tumor, malignant hematologic cancer hematologic malignancy hematologic neoplasm hematological neoplasm hematological tumor hematopoietic and lymphoid cell neoplasm hematopoietic and lymphoid neoplasms hematopoietic cancer hematopoietic cell tumor hematopoietic malignancy, NOS hematopoietic neoplasm hematopoietic neoplasms including lymphomas hematopoietic tumor hematopoietic, Including myeloma malignant hematologic neoplasm malignant hematopoietic neoplasm hematopoietic and lymphoid cell neoplasm MONDO:0044884 A primary lymphoma that affects the tonsil and the bulk of the tumor is in this anatomic area. The majority of cases are B-cell non-Hodgkin lymphomas. Primary tonsillar lymphoma lymphoma of the tonsil lymphoma of tonsil tonsil lymphoma tonsillar lymphoma tonsillar lymphoma MONDO:0044885 A benign adipose tissue neoplasm of the tonsils. lipoma of the tonsil lipoma of tonsil tonsil lipoma tonsillar lipoma tonsillar lipoma MONDO:0044887 A non-Hodgkin lymphoma that arises from the central nervous system. Central nervous system non-Hodgkin lymphoma Primary Central nervous system non-Hodgkin lymphoma central nervous system non-Hodgkin lymphoma non-Hodgkin lymphoma of central nervous system central nervous system non-hodgkin lymphoma MONDO:0044889 A term that refers to high grade B-cell lymphoma, not otherwise specified or high grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements. HGBL high grade B-cell lymphoma high-grade B-cell lymphoma high grade B-cell lymphoma MONDO:0044903 A partial or complete replacement of the bone marrow stroma by fibrous tissue. It can be a primary bone marrow lesion as part of the chronic myeloproliferative disorders (chronic idiopathic myelofibrosis), a manifestation of acute myeloid leukemia (acute panmyelosis with myelofibrosis), or a secondary phenomenon due to bone marrow involvement by a metastatic tumor (e.g., metastatic breast carcinoma). --2003 myelofibrosis myelofibrosis MONDO:0044906 A benign neoplasm of the bladder that involves the transitional epithelium projecting above the surrounding epithelial surface and consisting of villous or arborescent outgrowths of fibrovascular stroma. bladder transitional cell papilloma bladder urothelial papilloma urinary bladder transitional cell papilloma urinary bladder urothelial papilloma bladder urothelial papilloma MONDO:0044907 A squamous cell carcinoma which has spread from its original site of growth to another anatomic site. Metastatic squamous cell carcinoma metastatic squamous cell carcinoma MONDO:0044912 A malignant neoplasm that has spread to the spinal cord from another anatomic site or system. Representative examples include carcinoma, lymphoma, and melanoma. Metastatic malignant neoplasm in the spinal cord Metastatic malignant neoplasm to the spinal cord Metastatic neoplasm to the spinal cord Metastatic tumor to the spinal cord Secondary malignant neoplasm to the spinal cord Secondary malignant tumor to the spinal cord metastasis to spinal cord metastatic malignant neoplasm in the spinal cord MONDO:0044913 A malignant neoplasm that has spread to the eye from another anatomic site. Metastases to eye Metastases to the eye Metastatic malignant neoplasm in the eye Metastatic malignant neoplasm to the eye Metastatic neoplasm to the eye Metastatic tumor to the eye eye metastasis metastasis to eye metastasis to the eye metastatic malignant neoplasm in the eye MONDO:0044915 An aggressive, high grade adenocarcinoma that arises from the salivary glands. It usually affects elderly males and presents as a rapidly enlarging mass. It metastasizes to regional lymph nodes and distant anatomic sites. carcinoma of duct of salivary gland carcinoma of salivary duct carcinoma of the salivary duct duct of salivary gland carcinoma high grade salivary duct carcinoma salivary duct carcinoma salivary duct carcinoma MONDO:0044916 A rhabdoid tumor which arises in the soft tissues. It occurs in infants and children and may be associated with loss of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. extrarenal rhabdoid tumor malignant extrarenal rhabdoid neoplasm rhabdoid tumor of soft tissue extrarenal rhabdoid tumor MONDO:0044917 The most frequent type of lymphoblastic lymphoma. It comprises approximately 85-90% of cases. It is more frequently seen in adolescent males. It frequently presents with a mass lesion in the mediastinum. Pleural effusions are common. (WHO, 2001) Precur. T-lymphoblastic lymphoma T Lymphoblastic lymphoma T-Lymphoblastic lymphoma T-lymphoblastic lymphoma precursor T Lymphoblastic lymphoma precursor T-Lymphoblastic lymphoma precursor T-cell Lymphoblastic lymphoma precursor T-lymphoblastic lymphoma T-lymphoblastic lymphoma MONDO:0044919 A primary or metastatic malignant neoplasm that affects the renal pelvis. cancer of renal pelvis malignant neoplasm of renal pelvis malignant neoplasm of the renal pelvis malignant renal pelvis neoplasm malignant renal pelvis tumor malignant tumor of renal pelvis malignant tumor of the renal pelvis renal pelvis cancer malignant renal pelvis neoplasm MONDO:0044921 atypical lymphoid hyperplasia atypical lymphoproliferative disorder atypical lymphoproliferative disorder MONDO:0044923 An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features. It usually responds to induction therapy. https://github.com/monarch-initiative/mondo/issues/3452 https://github.com/monarch-initiative/mondo/issues/3583 AML with mutated NPM1 AML, Mutation of the Nucleophosmin Gene AML, NPM1 Mutation AML, NPM1 gene mutation AML, Nucleophosmin Gene Mutation NPMc+ AML acute myeloid leukemia with cytoplasmic nucleophosmin acute myeloid leukemia with mutated NPM1 acute myeloid leukemia, NPM1 gene mutation acute myeloid leukemia with mutated NPM1 MONDO:0044925 A carcinoma arising in the oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma. oral cavity cancer carcinoma of mouth carcinoma of oral cavity carcinoma of the oral cavity mouth carcinoma oral cavity carcinoma oral cavity carcinoma MONDO:0044926 Carcinoma, predominantly squamous cell, arising from the epithelial cells of the oropharynx. cancer of oropharynx cancer of the oropharynx oropharyngeal cancer oropharyngeal throat cancer carcinoma of oropharynx carcinoma of the oropharynx oropharyngeal carcinoma oropharynx carcinoma oropharyngeal carcinoma MONDO:0044937 A malignant epithelial neoplasm that arises from the rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. cancer of rectum cancer of the rectum rectal cancer carcinoma of rectum carcinoma of the rectum rectal carcinoma rectum carcinoma rectal carcinoma MONDO:0044956 A rare carcinoma that arises from the paranasal sinus. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. accessory sinus mucoepidermoid carcinoma mucoepidermoid carcinoma of accessory sinus mucoepidermoid carcinoma of paranasal sinus mucoepidermoid carcinoma of the accessory sinus mucoepidermoid carcinoma of the paranasal sinus paranasal sinus mucoepidermoid carcinoma paranasal sinus mucoepidermoid carcinoma MONDO:0044964 A mucoepidermoid carcinoma arising from the minor salivary glands in the oral cavity. It is often asymptomatic and detected during a routine dental examination. mucoepidermoid carcinoma of oral cavity mucoepidermoid carcinoma of the oral cavity oral cavity mucoepidermoid cancer oral cavity mucoepidermoid carcinoma oral cavity mucoepidermoid carcinoma MONDO:0044970 mitochondrial disease MONDO:0044972 A disease or disorder that involves the eosinophil. disease of eosinophil disease or disorder of eosinophil disorder of eosinophil eosinophil disease or disorder eosinophil disorder MONDO:0044981 pseudoallergy to substance pseudoallergy MONDO:0044982 drug pseudoallergy drug allergy drug pseudoallergy MONDO:0044983 A benign mesenchymal neoplasm composed of adipose (fatty) tissue. The most common representative of this category is the lipoma. adipose tissue benign connective and soft tissue neoplasm benign adipose tissue neoplasm benign adipose tissue tumor benign connective and soft tissue neoplasm of adipose tissue benign lipomatous neoplasm benign lipomatous tumor benign neoplasm of adipose tissue benign neoplasm of the adipose tissue benign tumor of the adipose tissue benign tumor of adipose tissue benign lipomatous neoplasm MONDO:0044984 A disease or disorder that involves the nasolacrimal duct. disease of nasolacrimal duct disease or disorder of nasolacrimal duct disorder of nasolacrimal duct nasolacrimal duct disease nasolacrimal duct disease or disorder nasolacrimal duct disorder MONDO:0044986 A disease or disorder that involves the lymphoid system. disease of lymphoid system disease or disorder of lymphoid system disorder of lymphoid system lymphoid system disease lymphoid system disease or disorder lymphoid system disorder MONDO:0044991 A disease or disorder that involves the upper digestive tract. disease of upper digestive tract disease or disorder of upper digestive tract disorder of upper digestive tract disorder of upper gastrointestinal tract upper digestive tract disease or disorder upper gastrointestinal tract disease upper digestive tract disorder MONDO:0044992 A disease or disorder that involves the mouth mucosa. disease of mouth mucosa disease or disorder of mouth mucosa disorder of mouth mucosa disorder of oral mucous membrane mouth mucosa disease or disorder oral mucous membrane disease mouth mucosa disorder MONDO:0044993 A disease or disorder that involves the sympathetic nervous system. disease of sympathetic nervous system disease or disorder of sympathetic nervous system disorder of sympathetic nervous system sympathetic nervous system disease sympathetic nervous system disease or disorder sympathetic nervous system disorder MONDO:0044995 A disease or disorder that involves the parasympathetic nervous system. disease of parasympathetic nervous system disease or disorder of parasympathetic nervous system disorder of parasympathetic nervous system parasympathetic nervous system disease parasympathetic nervous system disease or disorder parasympathetic nervous system disorder MONDO:0044996 A disease or disorder that involves the cerebral cortex. cerebral cortex disease cerebral cortex disease or disorder disease of cerebral cortex disease or disorder of cerebral cortex disorder of cerebral cortex cerebral cortex disorder MONDO:0044997 A disease or disorder that involves the midbrain. disease of midbrain disease or disorder of midbrain disorder of midbrain midbrain disease midbrain disease or disorder midbrain disorder MONDO:0045001 A disease or disorder that involves the cardiac ventricle. cardiac ventricle disease cardiac ventricle disease or disorder disease of cardiac ventricle disease or disorder of cardiac ventricle disorder of cardiac ventricle cardiac ventricle disorder MONDO:0045002 A disease or disorder that involves the vertebra. disease of vertebra disease or disorder of vertebra disorder of vertebra vertebra disease vertebra disease or disorder vertebral disorder MONDO:0045003 A disease or disorder that involves the scrotum. disease of scrotum disease or disorder of scrotum disorder of scrotum scrotum disease scrotum disease or disorder scrotal disorder MONDO:0045004 A disease or disorder that involves the skeletal ligament. disease of skeletal ligament disease or disorder of skeletal ligament disorder of skeletal ligament skeletal ligament disease or disorder skeletal ligament disorder MONDO:0045008 A disease that has its basis in the disruption of cholesterol metabolic process. cholesterol metabolic process disease cholesterol metabolism disease disorder of cholesterol metabolic process disorder of cholesterol metabolism Examples: disorder of cholesterol catabolism (disorder), disorder of cholesterol synthesis (disorder) cholesterol metabolism disease MONDO:0045010 A disease that has its basis in the disruption of glycoprotein metabolic process. disorder of glycoprotein metabolic process disorder of glycoprotein metabolism glycoprotein metabolic process disease glycoprotein metabolism disease Examples: alpha-n-acetylgalactosaminidase deficiency (disorder), carbohydrate-deficient glycoprotein syndrome (disorder), alpha-1-antitrypsin deficiency (disorder), alpha-2-antitrypsin deficiency (disorder), sialidosis (disorder), aspartylglucosaminuria (disorder), fucosidosis (disorder), mannosidosis (disorder), i-cell disease (disorder), glycoprotein storage disorder (disorder) glycoprotein metabolism disease MONDO:0045011 disorder of keratinization keratinization disease keratinization disease MONDO:0045012 A disease that has its basis in the disruption of steroid metabolic process. disorder of steroid metabolic process disorder of steroid metabolism steroid metabolic process disease steroid metabolism disease steroid metabolism disease MONDO:0045013 A disease or disorder that involves the extraembryonic membrane. disease of extraembryonic membrane disease or disorder of extraembryonic membrane disorder of extraembryonic membrane extraembryonic membrane disease extraembryonic membrane disease or disorder disorder of extraembryonic membrane MONDO:0045014 A disease that has its basis in the disruption of tetrahydrobiopterin metabolic process. disorder of tetrahydrobiopterin metabolic process disorder of tetrahydrobiopterin metabolism tetrahydrobiopterin metabolism disease tetrahydrobiopterin metabolic process disease MONDO:0045015 A disease that has its basis in the disruption of carbohydrate transport. carbohydrate transport disease disorder of carbohydrate transport carbohydrate transport disease MONDO:0045016 A disease that has its basis in the disruption of cholesterol catabolic process. cholesterol catabolism disease disorder of cholesterol catabolic process disorder of cholesterol catabolism cholesterol catabolic process disease MONDO:0045017 A disease that has its basis in the disruption of cholesterol biosynthetic process. cholesterol synthesis disease disorder of cholesterol biosynthetic process disorder of cholesterol synthesis cholesterol biosynthetic process disease MONDO:0045018 A disease that has its basis in the disruption of creatine biosynthetic process. creatine synthesis disease disorder of creatine biosynthetic process disorder of creatine synthesis creatine biosynthetic process disease MONDO:0045019 disorder of lactation lactation disease lactation disease MONDO:0045020 A disease that has its basis in the disruption of glycine metabolic process. disorder of glycine metabolic process disorder of glycine metabolism glycine metabolic process disease glycine metabolism disease glycine metabolism disease MONDO:0045022 A disease that has its basis in the disruption of organic acid metabolic process. disorder of organic acid metabolic process disorder of organic acid metabolism organic acid metabolic process disease organic acid metabolism disorder disorder of organic acid metabolism MONDO:0045023 An instance of adrenogenital syndrome that is acquired during the lifetime of the individual. acquired adrenogenital syndrome acquired adrenogenital syndrome MONDO:0045024 Any disorder that features disrupted cell proliferation. Includes hyperplasia, neoplastic syndrome and isolated neoplasm diseases as well as precancerous conditions. cell proliferation disorder neoplasm cancer or benign tumor MONDO:0045030 non-infective diarrhea presumed non-infectious diarrhea non-infectious diarrheal disease MONDO:0045032 https://github.com/monarch-initiative/mondo/issues/4069 congenital secretory diarrhea congenital secretory diarrhea MONDO:0045033 A mycosis that arises from infection in an immunologically compromised host and is systemic. opportunistic systemic mycosis MONDO:0045034 infectious disease characteristic MONDO:0045035 A characteristic of an infectious disease in which the disease affects an immunologically compromised host. opportunistic infectious MONDO:0045036 A characteristic of an infectious disease in which the disease affects an immunologically normal host. primary infectious MONDO:0045037 An opportunistic infection caused by a heterogeneous group of mitosporic fungi with clear (hyalo-) hyphae in the host. Common causative agents include acremonium; aspergillus; chrysosporium; fusarium; paecilomyces; penicillium; pseudallescheria; scedosporium; and scopulariopsis. Normally a dermatomycoses, it can become invasive in the immunocompromised host. hyalohyphomycosis hyalohyphomycosis MONDO:0045038 cutaneous basidiobolomycosis MONDO:0045039 disseminated basidiobolomycosis systemic basidiobolomycosis MONDO:0045040 locational disease characteristic MONDO:0045042 localized restricted to specific location MONDO:0045043 A disease or disorder that involves the broad ligament of uterus. broad ligament of uterus disease broad ligament of uterus disease or disorder disease of broad ligament of uterus disease or disorder of broad ligament of uterus disorder of broad ligament disorder of broad ligament of uterus disorder of uterine broad ligament MONDO:0045044 A disease or disorder that involves the ligament. disease of ligament disease or disorder of ligament disorder of ligament ligament disease or disorder ligament disorder MONDO:0045045 A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of immunoglobulin class G (IgG). Deficiencies of IgG present variably according to subclass. IgG deficiencies are typically relative among subclasses and not absolute. Thus even with a given selective IgG subclass deficiency, total IgG levels may still fall within normal range. The clinical course and prognosis is dependent upon the severity of the deficiency and associated morbidity. selective IgG immunodeficiency IgG deficiency IgG subclass deficiency selective IgG immunodeficiency MONDO:0045046 An inherited metabolic disease that is has its basis in the disruption of thyroid hormone metabolic process. inborn error of thyroid hormone metabolic process inborn thyroid hormone metabolic process disorder inherited disorder of thyroid metabolism rare inborn error of thyroid hormone metabolic process inherited thyroid metabolism disease MONDO:0045047 A sarcoidosis that involves the nervous system. nervous system sarcoidosis neurosarcoidosis sarcoidosis of nervous system neurosarcoidosis MONDO:0045048 A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria. toxemia of pregnancy toxemia of pregnancy MONDO:0045049 hypermature cataract hypermature cataract MONDO:0045050 A cataract (disease) that involves the lens nucleus. cataract (disease) of lens nucleus lens nucleus cataract (disease) nuclear cataract MONDO:0045051 A cataract (disease) that involves the lens cortex. cataract (disease) of lens cortex lens cortex cataract (disease) cortical cataract MONDO:0045052 A non-metastasizing bone-forming neoplasm. This category includes osteoma, osteoid osteoma, and osteoblastoma. benign osteogenic neoplasm benign osteogenic tumor osteogenic neoplasm, benign benign osseous neoplasm benign osseous tumor benign osteogenic neoplasm MONDO:0045053 A benign, intermediate, or malignant bone-forming neoplasm. Representative examples include osteoma, osteoblastoma, and osteosarcoma. osteogenic neoplasm osteogenic tumor osseous neoplasm osseous tumor osteogenic neoplasm MONDO:0045054 A disorder either associated with an increased risk for malignant transformation (e.g., intraepithelial neoplasia, leukoplakia, dysplastic nevus, myelodysplastic syndrome) or that develops as a result of the presence of an existing malignant neoplasm (e.g., paraneoplastic syndrome). cancer related problem/condition cancer-related condition cancer-related problem or condition oncologic complications problem/condition, cancer related problem/condition, cancer-related cancer-related condition MONDO:0045055 A carcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen. A representative example is the glycogen-rich, clear cell breast carcinoma. Glycogen-rich carcinoma glycogen-rich carcinoma MONDO:0045056 An atypical meningioma which may recur in approximately 29-40% of the cases. This category includes the atypical meningioma, chordoid meningioma, and clear cell meningioma. WHO grade II meningioma grade 2 meningioma grade II meningioma grade II meningioma MONDO:0045057 A disorder characterized by confusion; inattentiveness; disorientation; illusions; hallucinations; agitation; and in some instances autonomic nervous system overactivity. It may result from toxic/metabolic conditions or structural brain lesions. (From Adams et al., Principles of Neurology, 6th ed, pp411-2) OBS syndrome organic brain syndrome delirium MONDO:0045058 An adenoma or carcinoma of the pituitary gland that produces corticotropin. ACTH producing pituitary gland neoplasm ACTH-producing pituitary gland neoplasm ACTH-producing pituitary neoplasm ACTH-producing pituitary tumor ACTH-secreting tumor of pituitary ACTH-secreting tumor of the pituitary adrenocorticotropin producing pituitary gland tumor adrenocorticotropin secreting neoplasm of pituitary adrenocorticotropin secreting neoplasm of the pituitary adrenocorticotropin secreting pituitary gland tumor adrenocorticotropin secreting tumor of pituitary adrenocorticotropin secreting tumor of the pituitary corticotropin secreting pituitary gland neoplasm pituitary corticotropin secreting neoplasm pituitary corticotropin secreting tumor ACTH-producing pituitary gland neoplasm MONDO:0045059 cribriform carcinoma ductal carcinoma, cribriform type cribriform carcinoma of breast MONDO:0045060 A ductal carcinoma in situ of the breast characterized by the presence of a cribriform architectural pattern. DCIS of breast with cribriform pattern DCIS of the breast with cribriform pattern cribriform DCIS of breast cribriform DCIS of the breast cribriform ductal breast carcinoma in situ cribriform ductal carcinoma in situ of breast cribriform ductal carcinoma in situ of the breast ductal carcinoma in situ of breast with cribriform pattern ductal carcinoma in situ of the breast with cribriform pattern intraductal cribriform breast adenocarcinoma non-infiltrating cribriform ductal breast carcinoma non-invasive cribriform ductal breast carcinoma intraductal cribriform breast adenocarcinoma MONDO:0045063 An aggressive carcinoma that arises from the major salivary glands. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues. adenoid cystic carcinoma of major salivary gland adenoid cystic carcinoma of the major salivary gland major salivary gland adenoid cystic cancer major salivary gland adenoid cystic carcinoma major salivary gland adenoid cystic carcinoma MONDO:0045068 An aggressive carcinoma that arises from the minor salivary glands. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. adenoid cystic carcinoma of minor salivary gland adenoid cystic carcinoma of the minor salivary gland minor salivary gland adenoid cystic carcinoma minor salivary gland adenoid cystic carcinoma MONDO:0045069 A carcinoma that arises from the minor salivary glands. Representative examples include adenoid cystic carcinoma, acinic cell carcinoma, polymorphous low grade adenocarcinoma, and mucinous adenocarcinoma. carcinoma of minor salivary gland carcinoma of the minor salivary gland minor salivary gland cancer minor salivary gland carcinoma minor salivary gland carcinoma MONDO:0045070 A melanoma that arises from any part of the digestive system. digestive system melanoma digestive system melanoma (disease) gastrointestinal melanoma melanoma (disease) of digestive system digestive system melanoma MONDO:0045071 mycosis fungoides variant mycosis fungoides variant MONDO:0045072 Abnormal secretion of hormones in conjunction with neoplastic growth occurring anywhere in the body. https://github.com/monarch-initiative/mondo/issues/324 ectopic hormone secretion syndrome associated with neoplasia neoplasm associated ectopic hormone secretion syndrome ectopic hormone secretion syndrome associated with neoplasia MONDO:0049221 myopia 26, X-linked, female-limited MYP26 myopia 26, X-linked, female-limited MONDO:0049222 https://github.com/monarch-initiative/mondo/issues/4521 intellectual developmental disorder, X-linked 107 intellectual disability, X-linked 107 MRX107 mental retardation, X-linked 107 intellectual disability, X-linked 107 MONDO:0049223 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 osteogenesis imperfecta, type XIX, X-linked recessive OI19 osteogenesis imperfecta, type XIX osteogenesis imperfecta, type 19 MONDO:0054549 https://github.com/monarch-initiative/mondo/issues/2632 peroxisome biogenesis disorder 10B PBD10B peroxisome biogenesis disorder 10B MONDO:0054550 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 avascular necrosis of femoral head, primary, 1 avascular necrosis of the femoral head ANFH1 Femoral head, avascular necrosis of femoral head, aseptic necrosis of ischemic necrosis of femoral head osteonecrosis of femoral head avascular necrosis of femoral head, primary, 1 MONDO:0054551 avascular necrosis of femoral head, primary, 2 ANFH2 avascular necrosis of femoral head, primary, 2 MONDO:0054559 https://github.com/monarch-initiative/mondo/issues/4069 COG2-CDG COG2-related congenital disorder of glycosylation CDG Iiq CDG2Q congenital disorder of glycosylation, type IIq MONDO:0054560 anauxetic dysplasia 1 ANXD1 anauxetic dysplasia spondyloepimetaphyseal dysplasia, anauxetic type spondylometaepiphyseal dysplasia, Menger type spondylometaepiphyseal dysplasia, anauxetic type anauxetic dysplasia 1 MONDO:0054561 https://github.com/monarch-initiative/mondo/issues/4948 anauxetic dysplasia 2 ANXD2 anauxetic dysplasia 2 MONDO:0054565 SRTD17 short-rib thoracic dysplasia 17 with or without POLYDACTYLY short-rib thoracic dysplasia 17 with or without polydactyly MONDO:0054573 Lopes-Maciel-Rodan syndrome LOMARS Lopes-Maciel-Rodan syndrome MONDO:0054577 bleeding disorder, platelet-type, 21 BDPLT21 bleeding disorder, platelet-type, 21 MONDO:0054581 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 Townes-Brocks syndrome 1 townes-brocks branchiootorenal-like syndrome TBS1 Townes-Brocks-branchiootorenal-like syndrome anus, imperforate, with hand, Foot, and Ear anomalies deafness, sensorineural, with imperforate anus and thumb anomalies rear syndrome renal-ear-anal-radial syndrome Townes-Brocks syndrome 1 MONDO:0054582 Townes-Brocks syndrome 2 TBS2 Townes-Brocks syndrome 2 MONDO:0054588 Noonan syndrome-like disorder with loose anagen hair 2 NSLH2 Noonan syndrome-like disorder with loose anagen hair 2 MONDO:0054591 A neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems. https://github.com/monarch-initiative/mondo/issues/3680 Stankiewicz-Isidor syndrome STISS Stankiewicz-Isidor syndrome MONDO:0054593 https://github.com/monarch-initiative/mondo/issues/3738 microcephaly 18, primary, autosomal dominant MCPH18 primary autosomal dominant microcephaly 18 microcephaly 18, primary, autosomal dominant MONDO:0054601 pituitary adenoma 5, multiple types PITA5 pituitary adenoma 5, multiple types MONDO:0054602 gaze palsy, familial horizontal, with progressive scoliosis, 2 HGPPS2 gaze palsy, familial horizontal, with progressive scoliosis, 2 MONDO:0054615 spermatogenic failure 18 SPGF18 spermatogenic failure 18 MONDO:0054636 Skraban-Deardorff syndrome SKDEAS intellectual disability with seizures, abnormal Gait, and distinctive Facial features Skraban-Deardorff syndrome MONDO:0054637 https://github.com/monarch-initiative/mondo/issues/4521 NSLH NSLH1 Noonan syndrome-like disorder with loose anagen hair 1 Noonan syndrome-like with loose anagen hair 1 Tosti syndrome Noonan syndrome-like disorder with loose anagen hair 1 MONDO:0054654 combined oxidative phosphorylation deficiency 32 COXPD32 combined oxidative phosphorylation deficiency 32 MONDO:0054665 https://github.com/monarch-initiative/mondo/issues/4521 pituitary adenoma 3, multiple types pituitary adenoma 3, multiple types, somatic PITA3 pituitary adenoma 3, multiple types MONDO:0054666 ovarian dysgenesis 5 ODG5 ovarian dysgenesis 5 MONDO:0054669 PCH11 Pontocerebellar hypoplasia due to TBC1D23 pontocerebellar hypoplasia, type 11 pontocerebellar hypoplasia, type 11 MONDO:0054677 combined oxidative phosphorylation deficiency 33 COXPD33 combined oxidative phosphorylation deficiency 33 MONDO:0054680 https://github.com/monarch-initiative/mondo/issues/4948 epiphyseal dysplasia, multiple, 7 EDM7 multiple epiphyseal dysplasia 7 epiphyseal dysplasia, multiple, 7 MONDO:0054691 immunodeficiency, common variable, 14 CVID14 immunodeficiency, COMMON variable, 14 immunodeficiency, common variable, 14 MONDO:0054695 https://github.com/monarch-initiative/mondo/issues/4521 centronuclear myopathy 6 with fiber-type disproportion myopathy, centronuclear, 6, with fiber-type disproportion CNM6 myopathy, centronuclear, 6, with FIBER-type disproportion myopathy, centronuclear, 6, with fiber-type disproportion MONDO:0054696 immunodeficiency 53 IMD53 immunodeficiency 53 MONDO:0054697 IMD11B atopic dermatitis, elevated IgE, and eosinophilia immunodeficiency 11B with ATOPIC dermatitis immunodeficiency 11b with atopic dermatitis MONDO:0054698 https://github.com/monarch-initiative/mondo/issues/4521 PRAAS1 proteasome-associated autoinflammatory syndrome 1 proteasome-associated autoinflammatory syndrome 1 and digenic forms JMP syndrome Nakajo-Nishimura syndrome autoinflammation, lipodystrophy, and dermatosis syndrome chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome joint contractures, muscular atrophy, microcytic Anemia, and panniculitis-induced lipodystrophy proteasome-associated autoinflammatory syndrome 1, digenic proteasome-associated autoinflammatory syndrome 1 MONDO:0054699 https://github.com/monarch-initiative/mondo/issues/4521 proteasome-associated autoinflammatory syndrome 3 proteasome-associated autoinflammatory syndrome 3 and digenic forms PRAAS3 proteasome-associated autoinflammatory syndrome 3, digenic proteasome-associated autoinflammatory syndrome 3 MONDO:0054700 proteasome-associated autoinflammatory syndrome 2 PRAAS2 proteasome-associated autoinflammatory syndrome 2 MONDO:0054701 Kleefstra syndrome 2 KLEFS2 Kleefstra syndrome 2 MONDO:0054708 RETINITIS pigmentosa 80 RP80 retinitis pigmentosa 80 MONDO:0054716 MCPH19 microcephaly 19, PRIMARY, autosomal recessive primary autosomal recessive microcephaly 19 microcephaly 19, primary, autosomal recessive MONDO:0054722 https://github.com/monarch-initiative/mondo/issues/4948 GELEOPHYSIC dysplasia 3 GPHYSD3 geleophysic dysplasia 3 MONDO:0054723 spermatogenic failure 19 SPGF19 spermatogenic failure 19 MONDO:0054724 spermatogenic failure 20 SPGF20 spermatogenic failure 20 MONDO:0054725 spermatogenic failure 21 SPGF21 spermatogenic failure 21 MONDO:0054726 spermatogenic failure 22 SPGF22 spermatogenic failure 22 MONDO:0054727 spermatogenic failure 23 SPGF23 spermatogenic failure 23 MONDO:0054728 spermatogenic failure 24 SPGF24 spermatogenic failure 24 MONDO:0054729 spermatogenic failure 25 SPGF25 spermatogenic failure 25 MONDO:0054730 spermatogenic failure 26 SPGF26 spermatogenic failure 26 MONDO:0054731 spermatogenic failure 27 SPGF27 spermatogenic failure 27 MONDO:0054732 spermatogenic failure 28 SPGF28 spermatogenic failure 28 MONDO:0054733 spermatogenic failure 29 SPGF29 spermatogenic failure 29 MONDO:0054736 MOSAIC variegated aneuploidy syndrome 3 MVA3 mosaic variegated aneuploidy syndrome 3 MONDO:0054737 Fraser syndrome 1 FRASRS1 Fraser syndrome cryptophthalmos with Other malformations cryptophthalmos-syndactyly syndrome Fraser syndrome 1 MONDO:0054738 Fraser syndrome 2 FRASRS2 Fraser syndrome 2 MONDO:0054739 Fraser syndrome 3 FRASRS3 Fraser syndrome 3 MONDO:0054740 Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CDH1 gene. CDH1 blepharo-cheilo-odontic syndrome blepharo-cheilo-odontic syndrome caused by mutation in CDH1 blepharocheilodontic syndrome 1 BCD syndrome BCDS1 Lagophthalmia with bilateral cleft 51P and palate blepharocheilodontic syndrome clefting, ectropion, and conical teeth ectropion, Inferior, with cleft 51P and/Or palate elschnig syndrome blepharocheilodontic syndrome 1 MONDO:0054741 combined oxidative phosphorylation deficiency 34 COXPD34 combined oxidative phosphorylation deficiency 34 MONDO:0054742 combined oxidative phosphorylation deficiency 35 COXPD35 combined oxidative phosphorylation deficiency 35 MONDO:0054743 Any polycystic kidney disease in which the cause of the disease is a mutation in the ALG8 gene, that presents with or without kidney cysts. polycystic liver disease 3 with or without kidney cysts PCLD3 polycystic liver disease 3 with or without kidney cysts MONDO:0054748 Fanconi anemia, complementation group S FANCS Fanconi anemia, complementation GROUP S Fanconi anemia, complementation group S MONDO:0054750 https://github.com/monarch-initiative/mondo/issues/4882 amyotrophic lateral sclerosis, susceptibility to, 24 ALS24 amyotrophic lateral sclerosis, susceptibility to, 24 MONDO:0054752 https://github.com/monarch-initiative/mondo/issues/4948 multiple synostoses syndrome 4 SYNS4 multiple synostoses syndrome 4 MONDO:0054754 https://github.com/monarch-initiative/mondo/issues/5671 Herpes simplex encephalitis, Susceptibility to, 6 IIAE8 encephalopathy, ACUTE, infection-induced (HERPES-specific), susceptibility to, 8 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 MONDO:0054761 MCPH20 microcephaly 20, PRIMARY, autosomal recessive microcephaly 20, primary, autosomal recessive MONDO:0054763 neurodegeneration with brain iron accumulation 7 NBIA7 neurodegeneration with brain iron accumulation 7 MONDO:0054764 neurodegeneration with brain iron accumulation 8 NBIA8 neurodegeneration with brain iron accumulation 8 MONDO:0054765 PLCA3 amyloidosis cutis dyschromica amyloidosis, PRIMARY LOCALIZED cutaneous, 3 amyloidosis, primary localized cutaneous, 3 MONDO:0054770 OFD18 Ofds 18 oral-Facial-digital syndrome, type 18 orofaciodigital syndrome XVIII orofaciodigital syndrome 18 MONDO:0054771 keratoconus 9 KTCN9 keratoconus 9 MONDO:0054776 FFEVF4 epilepsy, FAMILIAL focal, with variable foci 4 epilepsy, familial focal, with variable foci 4 MONDO:0054780 https://github.com/monarch-initiative/mondo/issues/4521 anemia, neonatal hemolytic, fatal or near-fatal elliptocytosis 3 elliptocytosis-3 EL3 anemia, perinatal hemolytic, fatal or near-fatal elliptocytosis 3 MONDO:0054781 combined oxidative phosphorylation deficiency 36 COXPD36 combined oxidative phosphorylation deficiency 36 MONDO:0054782 leukodystrophy, hypomyelinating, 15 HLD15 leukodystrophy, hypomyelinating, 15 MONDO:0054785 MMDS6 PMPCB deficiency multiple mitochondrial dysfunctions syndrome 6 multiple mitochondrial dysfunctions syndrome type 6 multiple mitochondrial dysfunctions syndrome 6 MONDO:0054791 leukodystrophy, hypomyelinating, 16 HLD16 leukodystrophy, hypomyelinating, 16 MONDO:0054794 https://github.com/monarch-initiative/mondo/issues/4069 HYC3 hydrocephalus, CONGENITAL, 3, with brain anomalies hydrocephalus, nonsyndromic, autosomal recessive 3 hydrocephalus, nonsyndromic, autosomal recessive 3, formerly hydrocephalus, congenital, 3, with brain anomalies MONDO:0054801 https://github.com/monarch-initiative/mondo/issues/4521 erythrocytosis 6 ECYT6 erythrocytosis, Beta-globin type erythrocytosis, FAMILIAL, 6 polycythemia, Beta-globin type erythrocytosis, familial, 6 MONDO:0054802 https://github.com/monarch-initiative/mondo/issues/4521 erythrocytosis 7 ECYT7 erythrocytosis, Alpha-globin type erythrocytosis, FAMILIAL, 7 polycythemia, Alpha-globin type erythrocytosis, familial, 7 MONDO:0054804 MCPH21 microcephaly 21, PRIMARY, autosomal recessive microcephaly 21, primary, autosomal recessive MONDO:0054805 MCPH22 microcephaly 22, PRIMARY, autosomal recessive microcephaly 22, primary, autosomal recessive MONDO:0054806 MCPH23 microcephaly 23, PRIMARY, autosomal recessive microcephaly 23, primary, autosomal recessive MONDO:0054813 EDSCLL2 Ehlers-Danlos syndrome, classic-like, 2 Ehlers-Danlos syndrome, classic-like, 2 MONDO:0054817 leukodystrophy, hypomyelinating, 17 HLD17 leukodystrophy, hypomyelinating, 17 MONDO:0054831 Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the DPF2 gene. https://github.com/monarch-initiative/mondo/issues/3939 COFFIN-SIRIS syndrome 7 CSS7 Coffin-Siris syndrome 7 MONDO:0054832 PPCD4 corneal dystrophy, POSTERIOR polymorphous, 4 corneal dystrophy, posterior polymorphous, 4 MONDO:0054833 CMT2DD Charcot-Marie-Tooth neuropathy, type 2Dd Charcot-Marie-tooth disease, axonal, type 2DD charcot-marie-tooth disease, axonal, type 2DD MONDO:0054835 Classic Dopamine Transporter Deficiency Syndrome describes a subset of SLC6A3-related DTDS cases which present in early infancy. This disorder is usually first identified by neonatal distress and irritability, feeding difficulties, and motor developmental delay. https://github.com/monarch-initiative/mondo/issues/5523 PKDYS PKDYS1 Parkinsonism-dystonia, infantile, 1 classic DTDS dopamine transporter deficiency syndrome classic dopamine transporter deficiency syndrome MONDO:0054836 PKDYS2 Parkinsonism-dystonia, infantile, 2 parkinsonism-dystonia, infantile, 2 MONDO:0054837 https://github.com/monarch-initiative/mondo/issues/4521 intellectual developmental disorder, autosomal dominant 57 intellectual disability, autosomal dominant 57 MRD57 mental retardation, autosomal dominant 57 intellectual disability, autosomal dominant 57 MONDO:0054838 CMH27 cardiomyopathy, FAMILIAL hypertrophic 27 cardiomyopathy, familial hypertrophic 27 MONDO:0054842 Any polycystic kidney disease in which the cause of the disease is a mutation in the DNAJB11 gene. DNAJB11 polycystic kidney disease polycystic kidney disease 6 with or without polycystic liver disease polycystic kidney disease caused by mutation in DNAJB11 PKD6 polycystic kidney disease 6 with or without polycystic liver disease MONDO:0054843 CILD38 ciliary dyskinesia, PRIMARY, 38 ciliary dyskinesia, Primary, 38, with or without situs inversus ciliary dyskinesia, primary, 38 MONDO:0054844 pontocerebellar hypoplasia, type 1D PCH1D pontocerebellar hypoplasia, type 1D MONDO:0054845 https://github.com/monarch-initiative/mondo/issues/4521 DEE66 EIEE66 developmental and epileptic encephalopathy 66 epileptic encephalopathy, early infantile, 66 developmental and epileptic encephalopathy, 66 MONDO:0054846 FAME6 benign Adult Familial myoclonic epilepsy 6 cortical myoclonic tremor with epilepsy, Familial, 6 epilepsy, FAMILIAL ADULT myoclonic, 6 epilepsy, familial adult myoclonic, 6 MONDO:0054847 FAME7 benign Adult Familial myoclonic epilepsy 7 cortical myoclonic tremor with epilepsy, Familial, 7 epilepsy, FAMILIAL ADULT myoclonic, 7 epilepsy, familial adult myoclonic, 7 MONDO:0054849 inflammatory bowel disease 29 IBD29 inflammatory bowel disease 29 MONDO:0054850 ovarian dysgenesis 6 ODG6 ovarian dysgenesis 6 MONDO:0054852 peeling skin syndrome 6 PSS6 peeling skin syndrome 6 MONDO:0054860 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 DFNB110 deafness, autosomal recessive 110 hearing loss, autosomal recessive 110 MONDO:0054861 intellectual disability, autosomal recessive 63 MRT63 mental retardation, autosomal recessive 63 intellectual disability, autosomal recessive 63 MONDO:0054862 premature ovarian failure 15 POF15 premature ovarian failure 15 MONDO:0054865 encephalopathy due to defective mitochondrial and peroxisomal fission encephalopathy due to mitochondrial and peroxisomal fission defect encephalopathy due to mitochondrial and peroxisomal fission defect MONDO:0054866 sudden arrhythmic death syndrome SADS sudden cardiac death due to cardiac arrhythmia sudden arrhythmia death syndrome MONDO:0054867 Paraomphalocele, epigastric Paraomphalocele, hypogastric paraomphalocele MONDO:0054868 Small intestinal obstruction that results from the impaction of thick meconium in the distal small intestine. meconium ileus meconium ileus MONDO:0054869 NDM nondystrophic myotonia MONDO:0056795 https://github.com/monarch-initiative/mondo/issues/3633 SPGFX1 spermatogenic failure, X-linked, type 1 Del Castillo syndrome Germinal cell aplasia Sertoli cell-only syndrome spermatogenic failure, X-linked, 1 X-linked spermatogenic failure 1 MONDO:0056796 Renal damage and impaired renal function secondary to urinary tract obstruction. congenital obstructive nephropathy obstructive nephropathy obstructive nephropathy MONDO:0056797 https://github.com/monarch-initiative/mondo/issues/3680 https://github.com/monarch-initiative/mondo/issues/5588 NEDMHM neurodevelopmental disorder with midbrain and hindbrain malformations neurodevelopmental disorder with midbrain and hindbrain malformations MONDO:0056798 A disease or disorder that involves the vermiform appendix. appendiceal disease appendix disease disease of appendix disease of vermiform appendix disease or disorder of vermiform appendix disorder of appendix disorder of vermiform appendix vermiform appendix disease vermiform appendix disease or disorder disorder of appendix MONDO:0056799 A disease or disorder that involves the layer of synovial tissue. disease of layer of synovial tissue disease or disorder of layer of synovial tissue disorder of layer of synovial tissue disorder of synovium layer of synovial tissue disease layer of synovial tissue disease or disorder synovium disorder MONDO:0056802 A disease or disorder that involves the synovial bursa. disease of synovial bursa disease or disorder of synovial bursa disorder of bursa disorder of synovial bursa synovial bursa disease or disorder synovial bursa disorder MONDO:0056803 A disease that has its basis in the disruption of sulfur compound metabolic process. disorder of sulfur compound metabolic process disorder of sulfur metabolic process disorder of sulfur metabolism disorder of sulphur metabolism sulfur compound metabolic process disease sulfur metabolism disease MONDO:0056804 benign neoplasm of peripheral nervous system MONDO:0056805 A benign granular cell tumor that involves the nerve. benign granular cell neoplasm of peripheral nerve benign granular cell neoplasm of the peripheral nerve benign granular cell tumor of nerve benign granular cell tumor of peripheral nerve benign granular cell tumor of the peripheral nerve benign peripheral nerve granular cell neoplasm benign peripheral nerve granular cell tumor nerve benign granular cell tumor benign peripheral nerve granular cell tumor MONDO:0056806 A squamous cell carcinoma that arises from the lung. It is characterized by the presence of large malignant cells. It includes the clear cell and papillary variants of squamous cell carcinoma. non-small cell squamous lung cancer non-small cell squamous lung carcinoma squamous non-small cell lung carcinoma non-small cell squamous lung carcinoma MONDO:0056813 Breast carcinoma that does not respond to hormone therapy. hormone-refractory breast cancer hormone-resistant breast cancer hormone-resistant breast carcinoma hormone-resistant breast carcinoma MONDO:0056814 Prostate carcinoma that does not respond to hormone therapy. hormone-resistant prostate cancer hormone-resistant prostate carcinoma hormone-resistant prostate carcinoma MONDO:0056815 A rare carcinoma that arises from the intrahepatic bile ducts and is composed of malignant glandular cells and malignant squamous cells. liver adenosquamous cancer liver adenosquamous carcinoma liver adenosquamous carcinoma MONDO:0056816 A neuroendocrine carcinoma that arises from the vulva. This category includes small cell and large cell neuroendocrine carcinoma. Most small cell neuroendocrine carcinomas of the vulva are Merkel cell carcinomas. mammalian vulva neuroendocrine carcinoma neuroendocrine carcinoma of mammalian vulva vulvar Neuroendocrine cancer vulvar Neuroendocrine carcinoma vulvar high grade Neuroendocrine carcinoma vulvar high grade Neuroendocrine neoplasm vulvar neuroendocrine carcinoma MONDO:0056817 An unusual rectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas. rectal adenosquamous cancer rectal adenosquamous carcinoma rectal adenosquamous carcinoma MONDO:0056818 An uncommon carcinoma that arises from the skin. It is characterized by the presence of malignant glandular and malignant squamous cellular components. skin adenosquamous cancer skin adenosquamous carcinoma skin adenosquamous carcinoma MONDO:0056819 A carcinoma arising from the nasal cavity or paranasal sinuses. nasal cavity and paranasal sinus cancer nasal cavity and paranasal sinus carcinoma paranasal sinus and nasal cavity cancer sinonasal carcinoma Editor note: TODO add uberon term nasal cavity and paranasal sinus carcinoma MONDO:0056820 A benign or malignant neoplasm that affects the nasal cavity or paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. nasal cavity and paranasal sinus neoplasm Editor note: TODO add uberon term nasal cavity and paranasal sinus neoplasm MONDO:0056822 amyotonia congenita Oppenheim disease amyotonia congenita MONDO:0060455 https://github.com/monarch-initiative/mondo/issues/4521 hemolytic anemia, congenital, X-linked, X-linked recessive hemolytic anemia, congenital, X-linked X-linked congenital hemolytic anemia MONDO:0060456 cerebral sclerosis, diffuse, scholz type cerebral sclerosis, diffuse, scholz type MONDO:0060457 AIADK AUTOINFLAMMATION with arthritis and dyskeratosis autoinflammation with arthritis and dyskeratosis MONDO:0060486 arthrogryposis multiplex congenita, neurogenic, with myelin defect AMCNMY arthrogryposis multiplex congenita 1, neurogenic, with myelin defect MONDO:0060489 https://github.com/monarch-initiative/mondo/issues/4521 46, XX sex reversal 4 46,XX SEX reversal 4 46,XX Sex reversal, Sry-Negative SRXX4 46,XX sex reversal 4 MONDO:0060490 A rare genetic syndromic intellectual disability characterized by infantile onset of global developmental delay and profound intellectual disability in association with a heterogeneous spectrum of manifestations, such as features of lower motor neuron disease, hypotonia, spasticity, contractures, seizures, respiratory insufficiency, and optic atrophy, among others. Dysmorphic craniofacial features include microcephaly, tall forehead, bitemporal narrowing, flat nasal bridge, low-set ears, and high-arched palate. Brain imaging may show cerebral and cerebellar atrophy, delayed myelination, and thin corpus callosum. https://github.com/monarch-initiative/mondo/issues/3680 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies NMIHBA neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MONDO:0060491 https://github.com/monarch-initiative/mondo/issues/3680 neurodevelopmental disorder with involuntary movements NEDIM Editor note: todo - check orphanet xref neurodevelopmental disorder with involuntary movements MONDO:0060496 https://github.com/monarch-initiative/mondo/issues/3680 neurodevelopmental disorder with hypotonia, neuropathy, and deafness NEDHND myopathy, Congenital, with neuropathy and Deafness neurodevelopmental disorder with hypotonia, neuropathy, and deafness MONDO:0060502 https://github.com/monarch-initiative/mondo/issues/3680 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies NDMSBA neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies MONDO:0060507 https://github.com/monarch-initiative/mondo/issues/4521 retinal dystrophy with macular staphyloma retinal dystrophy with or without macular staphyloma RDMS retinal dystrophy with or without macular staphyloma MONDO:0060510 Cohen-Gibson syndrome COGIS Cohen-Gibson syndrome MONDO:0060527 https://github.com/monarch-initiative/mondo/issues/4521 maleylacetoacetate isomerase deficiency MAAI deficiency MAAID benign hypersuccinylacetonemia hypersuccinylacetonemia, mild maleylacetoacetate isomerase deficiency MONDO:0060532 congenital heart defects and skeletal malformations syndrome CHDSKM congenital heart defects and skeletal malformations syndrome MONDO:0060533 microcephaly, short stature, and limb abnormalities MISSLA microcephaly, short stature, and limb abnormalities MONDO:0060549 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay CAKUTHED congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay MONDO:0060550 PAPA7 polydactyly, postaxial, type A7 polydactyly, postaxial, type a7 MONDO:0060551 cerebellar atrophy, developmental delay, and seizures CADEDS cerebellar atrophy, developmental delay, and seizures MONDO:0060554 https://github.com/monarch-initiative/mondo/issues/4948 vertebral, cardiac, renal, and limb defects syndrome 1 3-hydroxyanthranilic acidemia VCRL1 congenital NAD deficiency Disorder 1 vertebral, cardiac, renal, and limb defects syndrome 1 MONDO:0060555 https://github.com/monarch-initiative/mondo/issues/4948 vertebral, cardiac, renal, and limb defects syndrome 2 VCRL2 congenital NAD deficiency disorder 2 kynureninase deficiency, complete vertebral, cardiac, renal, and limb defects syndrome 2 MONDO:0060556 https://github.com/monarch-initiative/mondo/issues/4948 joint laxity, short stature, and myopia JLSM joint laxity, short stature, and myopia MONDO:0060562 https://github.com/monarch-initiative/mondo/issues/5671 encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities NELABA lipoyltransferase 2 deficiency encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities MONDO:0060564 HELIX HELIX syndrome hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia HELIX syndrome MONDO:0060568 Pilarowski-Bjornsson syndrome PILBOS developmental delay and speech apraxia with or without seizures Pilarowski-Bjornsson syndrome MONDO:0060577 https://github.com/monarch-initiative/mondo/issues/3680 neurodevelopmental disorder with microcephaly, ataxia, and seizures NEDMAS neurodevelopmental disorder with microcephaly, ataxia, and seizures MONDO:0060578 https://github.com/monarch-initiative/mondo/issues/3680 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures NEMMLAS neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures MONDO:0060582 ANOA auditory neuropathy and optic atrophy auditory neuropathy-optic atrophy syndrome MONDO:0060583 https://github.com/monarch-initiative/mondo/issues/4521 immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia platelet abnormalities with eosinophilia and immune-mediated inflammatory disease PLTEID platelet abnormalities with eosinophilia and immune-mediated inflammatory disease MONDO:0060585 HMN9 neuronopathy, distal hereditary motor, type IX neuropathy, distal hereditary motor, type 9 neuronopathy, distal hereditary motor, type 9 MONDO:0060589 https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 facial palsy, congenital, with ptosis and velopharyngeal dysfunction facial palsy, congenitla, with ptosis and velopharyngeal dysfunction FPVEPD facial palsy, congenital, with ptosis and velopharyngeal dysfunction MONDO:0060591 immunodeficiency, developmental delay, and hypohomocysteinemia IMDDHH immunodeficiency, developmental delay, and hypohomocysteinemia MONDO:0060592 Sweeney-Cox syndrome SWCOS Sweeney-Cox syndrome MONDO:0060596 https://github.com/monarch-initiative/mondo/issues/3680 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies NEDDFL Editor note: Check ORDO class, may refer to more generic class neurodevelopmental disorder with dysmorphic facies and distal limb anomalies MONDO:0060611 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia CIMAH methylenetetrahydrofolate dehydrogenase 1 deficiency combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia MONDO:0060621 https://github.com/monarch-initiative/mondo/issues/3680 neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy NDMSCA neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy MONDO:0060622 https://github.com/monarch-initiative/mondo/issues/3680 neurodevelopmental disorder with severe motor impairment and absent language NEDMIAL neurodevelopmental disorder with severe motor impairment and absent language MONDO:0060624 https://github.com/monarch-initiative/mondo/issues/3680 NDAGSCW neurodevelopmental disorder with ataxic GAIT, absent speech, and decreased cortical WHITE matter neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter MONDO:0060627 glycosylphosphatidylinositol biosynthesis defect 15 GPIBD15 developmental delay, epilepsy, cerebellar atrophy, and osteopenia glycosylphosphatidylinositol biosynthesis defect 15 MONDO:0060629 https://github.com/monarch-initiative/mondo/issues/3680 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive NDHMSR neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive MONDO:0060631 Alkuraya-Kucinskas syndrome ALKKUCS Alkuraya-Kucinskas syndrome MONDO:0060640 https://github.com/monarch-initiative/mondo/issues/3680 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy NEDMEBA neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy MONDO:0060641 https://github.com/monarch-initiative/mondo/issues/3680 neurodevelopmental disorder with or without seizures and gait abnormalities NEDSGA neurodevelopmental disorder with or without seizures and gait abnormalities MONDO:0060642 https://github.com/monarch-initiative/mondo/issues/3680 neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features NEDMAGA neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features MONDO:0060650 https://github.com/monarch-initiative/mondo/issues/4069 Leber congenital amaurosis with early-onset deafness LCAEOD Leber congenital amaurosis with early-onset deafness MONDO:0060659 https://github.com/monarch-initiative/mondo/issues/3680 neurodevelopmental disorder with poor language and loss of hand skills NDPLHS neurodevelopmental disorder with poor language and loss of hand skills MONDO:0060662 Diamond-Blackfan anemia-like DBAL Diamond-Blackfan anemia-like MONDO:0060663 https://github.com/monarch-initiative/mondo/issues/4069 CHTD5 CONGENITAL heart defects, multiple types, 5 congenital heart defects, multiple types, 5 MONDO:0060664 https://github.com/monarch-initiative/mondo/issues/3680 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities NEDMCR neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities MONDO:0060666 hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome HADDTS hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome MONDO:0060670 https://github.com/monarch-initiative/mondo/issues/4882 amyotrophic lateral sclerosis, susceptibility to, 25 ALS25 amyotrophic lateral sclerosis, susceptibility to, 25 MONDO:0060671 epilepsy, juvenile myoclonic, susceptibility to, 10 EJM10 epilepsy, juvenile myoclonic, susceptibility to, 10 MONDO:0060677 https://github.com/monarch-initiative/mondo/issues/3664 chromosome 1p35 deletion syndrome chromosome 1p35 deletion syndrome MONDO:0060688 hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency hyperthyroxinemia, euthyroid, due to decreased peripheral conversion of T4 hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency MONDO:0060690 https://github.com/monarch-initiative/mondo/issues/5529 phenytoin toxicity arene oxide detoxification defect diphenylhydantoin, defect in hydroxylation of fetal hydantoin syndrome phenytoin toxicity MONDO:0060702 https://github.com/monarch-initiative/mondo/issues/4948 SEMDDR spondyloepimetaphyseal dysplasia, Di Rocco type spondyloepimetaphyseal dysplasia, di rocco type MONDO:0060704 https://github.com/monarch-initiative/mondo/issues/3680 neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures Elhattab-Alkuraya syndrome NEDSBAS neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures MONDO:0060707 Ververi-Brady syndrome VERBRAS Ververi-Brady syndrome MONDO:0060711 Jaberi-Elahi syndrome JABELS Jaberi-Elahi syndrome MONDO:0060713 DCHE deafnes, congenital heart defects, and posterior embryotoxon deafness, congenital heart defects, and posterior embryotoxon MONDO:0060714 https://github.com/monarch-initiative/mondo/issues/4948 tumoral calcinosis, hyperphosphatemic, familial, 2 HFTC2 tumoral calcinosis, hyperphosphatemic, familial, 2 MONDO:0060715 https://github.com/monarch-initiative/mondo/issues/4948 tumoral calcinosis, hyperphosphatemic, familial, 3 HFTC3 tumoral calcinosis, hyperphosphatemic, familial, 3 MONDO:0060720 congenital disorder of glycosylation with defective fucosylation CDGF congenital disorder of glycosylation with defective fucosylation MONDO:0060724 glycosylphosphatidylinositol biosynthesis defect 17 GPIBD17 glycosylphosphatidylinositol biosynthesis defect 17 MONDO:0060729 protoporphyria, erythropoietic, 2 EPP2 protoporphyria, erythropoietic, 2 MONDO:0060732 https://github.com/monarch-initiative/mondo/issues/4948 tetraamelia syndrome 2 TETAMS2 tetraamelia syndrome 2 with pulmonary agenesis tetraamelia syndrome 2 MONDO:0060733 humerofemoral hypoplasia with radiotibial ray deficiency HHRRD Hfhrtrd humerofemoral hypoplasia with radiotibial ray deficiency MONDO:0060745 intellectual developmental disorder with or without epilepsy or cerebellar ataxia IDDECA intellectual developmental disorder with or without epilepsy or cerebellar ataxia MONDO:0060752 https://github.com/monarch-initiative/mondo/issues/3680 neurodevelopmental disorder with spasticity and poor growth NEDSG neurodevelopmental disorder with spasticity and poor growth MONDO:0060758 spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits SCA42ND spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits MONDO:0060759 https://github.com/monarch-initiative/mondo/issues/3541 https://github.com/monarch-initiative/mondo/issues/3680 IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures NEDAMSS neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MONDO:0060760 https://github.com/monarch-initiative/mondo/issues/5588 IDDFBA INTELLECTUAL developmental disorder with DYSMORPHIC facies and behavioral abnormalities intellectual developmental disorder with dysmorphic facies and behavioral abnormalities MONDO:0060761 https://github.com/monarch-initiative/mondo/issues/3680 neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum NEDEHCC neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum MONDO:0060763 Any BAFopathy in which the cause of the disease is a mutation in the BCL11B gene. https://github.com/monarch-initiative/mondo/issues/3939 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 BCL11B-related BAFopathy intellectual developmental disorder with dysmorphic facies, speech delay, and t-cell abnormalities IDDSFTA INTELLECTUAL developmental disorder with speech delay, DYSMORPHIC facies, and T-cell abnormalities intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities MONDO:0060764 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 Tetra-amelia syndrome 1 tetraamelia syndrome 1 TETAMS1 tetraamelia syndrome, autosomal recessive tetraamelia syndrome 1 MONDO:0060765 A polypoid lesion composed of fibrous tissue and epithelium. Representative examples include skin tag, anal fibroepithelial polyp, and gingival fibroepithelial polyp. fibroepithelial polyp fibropapilloma, benign fibroepithelial polyp MONDO:0060766 A non-neoplastic or neoplastic polypoid lesion that arises from the anus. Representative examples include the fibroepithelial polyp and squamous papilloma. anal polyp polyp of anus polyp of the anus anal polyp MONDO:0060768 A non-neoplastic nodular lesion that arises from the gingiva. It is composed of epithelial cells lining connective tissue stroma. fibroepithelial polyp of gingiva fibroepithelial polyp of gum fibroepithelial polyp of the gingiva fibroepithelial polyp of the gum gingival fibroepithelial polyp gum fibroepithelial polyp gingival fibroepithelial polyp MONDO:0060774 A superficial polypoid lesion that arises from the vagina. It is characterized by the presence of a fibroblastic stroma which is often myxoid, covered by squamous epithelial cells. fibroepithelial polyp of the vagina fibroepithelial polyp of vagina vaginal fibroepithelial polyp vaginal fibroepithelial stromal polyp vaginal fibroepithelial polyp MONDO:0060777 A usually solitary polypoid lesion that arises from the cervix. It usually affects women in their reproductive years. It is characterized by the presence of a connective tissue core and overlying epithelium. Cervical fibroepithelial polyp uterine cervix fibroepithelial polyp cervical fibroepithelial polyp MONDO:0060778 Probably related to a recessive gene, this is Fanconi Syndrome, characterised by adult onset. adult Fanconi syndrome adult Fanconi's syndrome adult Fanconi syndrome MONDO:0060779 Fanconi Syndrome caused by exposure to noxious agents. acquired Fanconi syndrome acquired Fanconi syndrome MONDO:0060781 Fanconi syndrome caused by degraded tetracycline Preeyasombat-Varavithya syndrome MONDO:0060782 A hematologic disorder which does not display the morphologic and/or clinical characteristics of an overt malignancy. Representative examples include atypical lymphoproliferative disorders and myelodysplastic syndromes. premalignant hematologic condition premalignant hematological system disease MONDO:0060783 A severe form of congenital adrenal hyperplasia characterized by very low or absent activity of an enzyme in the steroidogenic pathway typically presenting early in life, and requiring life-long cortisol replacement. classic CAH classic congenital adrenal hyperplasia classic congenital adrenal hyperplasia MONDO:0100000 An X-linked syndromic intellectual disability that that includes subtypes of the heterogeneous, eponymously named Lujan-Fryns syndrome, X-linked Ohdo syndrome, and Optiz-Kaveggia/ FG syndrome, which is caused by mutations in the gene MED12. The common and most penetrant phenotype shared amongst these disease entities is intellectual disability, with dysgenesis or agenesis of the corpus callosum, blepharophimosis, and marfanoid habitus having variable phenotypic expressivity. https://github.com/monarch-initiative/mondo/issues/5588 2018-03-09T01:45:27Z MED12 X-linked syndromic intellectual disability MED12-related intellectual disability syndrome X-linked syndromic intellectual disability caused by mutation in MED12 MED12-related intellectual disability syndrome MONDO:0100001 An IgE antibody response to a mammalian oligosaccharide epitope, galactose-alpha-1,3-galactose (alpha-gal). https://github.com/monarch-initiative/mondo/issues/102 2018-03-13T04:40:23Z AGS allergic galactose-alpha-1,3-galactose disease alpha-gal allergy red meat allergy tick bite meat allergy alpha-gal syndrome MONDO:0100002 A benign inflammatory colitis caused by a non-IgE-mediated immune reaction to ingested food proteins. 2018-03-14T03:32:19Z allergic proctocolitis FPIPC milk protein proctocololitis food protein-induced allergic proctocolitis MONDO:0100003 An inherited susceptibility or predisposition to developing renin-angiotensin-aldosterone system-blocker-induced angioedema. https://github.com/monarch-initiative/mondo/issues/2760 https://github.com/monarch-initiative/mondo/issues/4521 https://orcid.org/0000-0001-5208-3432 angioedema induced by ACE inhibitors, susceptibility to susceptibility to angioedema induced by ACE inhibitors MONDO:0100004 A clinically defined disease states with a largely unknown morphological background. Acute mast cell activation (MCA) is commonly seen in allergic reactions and often leads to the clinical signs and symptoms of anaphylaxis. Severe or even life‐threatening MCA may occur when the burden of mast cells is high and/or these cells are in an hyperactivated state. Mastocytosis may be associated with mast cell activation syndrome (MCAS). https://github.com/monarch-initiative/mondo/issues/5537 2018-07-17T21:32:53Z MACS disorder of mast cell activation mast cell activation disease mast cell activation syndrome MONDO:0100005 Mast cell activation syndrome where KIT-mutated and clonal mast cells are detected. 2018-07-17T21:43:00Z primary MACS primary mast cell activation syndrome MONDO:0100006 Mast cell activation syndrome where an underlying inflammatory disease is present, often in the form of an IgE-dependent allergy, but there are no KIT-mutated mast cells. 2018-07-17T21:45:26Z secondary MACS secondary mast cell activation syndrome MONDO:0100008 An eosinophilic gastrointestinal disorder triggered by food that is non-IgE-mediated. 2018-06-22T21:10:26Z FPIES delayed food allergy food protein-induced enterocolitis syndrome MONDO:0100009 Any congenital heart disease in which the cause of the disease is a mutation in the GATA4 gene. https://github.com/monarch-initiative/mondo/issues/5796 http://orcid.org/0000-0001-5208-3432 structural congenital heart disease, multiple types - GATA4 MONDO:0100010 Disorders that are causes by overuse of tendons. https://github.com/monarch-initiative/mondo/issues/5537 2018-07-17T15:51:39Z disease of tendon disease or disorder of tendon disorder of tendon tendon disease tendon disease or disorder tendinopathy MONDO:0100011 The chronic degeneration of a tendon without inflammation. 2018-07-17T15:58:43Z tendinosis MONDO:0100012 Inflammation of the outer layer of the tendon (paratenon) alone, whether or not the paratenon is lined by synovium. 2018-07-17T16:02:16Z paratenonitis MONDO:0100013 Paratenonitis associated with intratendinous degeneration. 2018-07-17T16:02:57Z paratenonitis with tendinosis MONDO:0100014 An autoimmune disease characterized by sudden onset of photopsias and scotomata in patients with no family history of retinitis pigmentosa, followed by visual field and central vision loss. 2018-05-23T00:32:51Z AIR autoimmune disease of retina retina autoimmune disease autoimmune retinopathy MONDO:0100015 2018-05-25T20:41:39Z DYT-GNAL an adult-onset, focal or segmental, isolated dystonia that is characterized by cervical or cranial dystonia that often begins in the fourth decade (range 7-54 years). adult-onset segmental dystonia MONDO:0100016 2018-05-25T20:53:07Z A generalized isolated dystonia characterized by early-onset, which may be clinically indistinguishable from DYT-TOR1A and may be the most common cause of early-onset generalized dystonia, at least outside the Askenazi Jewish population. DYT-KMT2B early-onset, generalized dystonia with mild syndromic features early-onset generalized isolated dystonia early-onset generalized dystonia MONDO:0100017 A group of skin conditions that cause constant inflammation and scaling of the skin. People with PRP have reddish, scaly patches that may occur everywhere on the body, or only on certain areas. Some people with PRP also develop thickened skin on the underside of the hands and feet (palmoplantar keratoderma), various nail abnormalities, and/or thinning of the hair. There are several types of PRP classified by age when symptoms begin, body areas involved, and whether other conditions are present. This condition occurs in adults (adult onset PRP) as well as children (juvenile onset PRP). https://github.com/monarch-initiative/mondo/issues/3470 https://orcid.org/0000-0001-5208-3432 pityriasis rubra pilaris https://rarediseases.info.nih.gov/diseases/7401/pityriasis-rubra-pilaris MONDO:0100018 A pityriasis rubra pilaris that occurs around the fifth or sixth decade of life. https://github.com/monarch-initiative/mondo/issues/3470 https://orcid.org/0000-0001-5208-3432 adult onset PRP adult onset pityriasis rubra pilaris MONDO:0100019 A paroxysmal dyskinesia which manifest as dystonic movements brought on by sustained exercise, that is correlated with a deficiency in the gene ECHS1 (caused by a missence mutation). Onset is typically between age two and four years. 2018-05-25T21:46:36Z ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesia ECHS1-related paroxysmal dyskinesia MONDO:0100020 A childhood-onset epilepsy that is characterized by frequent seizures of multiple types, including nocturnal focal motor and fronto-parietal opercular seizures, and daytime focal motor seizures with negative myoclonus and atypical absence seizures. Centrotemporal sharp waves are seen on EEG. During the phase of the epilepsy when seizures are frequent, neuropsychological deficits and motor impairment may be present. These deficits improve when seizures remit. 2018-06-22T22:43:29Z atonic-benign childhood epilepsy with centrotemporal spikes atypical benign partial epilepsy of childhood pseudo-Lennox syndrome atypical childhood epilepsy with centrotemporal spikes MONDO:0100021 A childhood-onset epilepsy that is characterized by the presence of visually-induced focal occipital lobe seizures. A proportion of patients with this syndrome have developmental delays and learning difficulty. 2018-06-22T22:48:33Z photosensitive occipital lobe epilepsy MONDO:0100022 An epilepsy sydrome that has an onset during the neonatal or infantile stage of life. https://github.com/monarch-initiative/mondo/issues/1640 2018-06-22T23:34:03Z This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. neonatal/infantile epilepsy syndrome MONDO:0100023 A neonatal/infantile epilepsy sndrome that is characterized by the onset of seizures that start in the in the neonate between day 4 and 7 of life and are often unilateral clonic events that recur and may alternate sides from seizure to seizure. Seizures can be repetitive over hours to days. Seizures remit by 4-6 months of age. A proportion of those affected may have seizures in later life. The child is expected to have normal developmental progress. https://github.com/monarch-initiative/mondo/issues/5740 2018-06-22T23:38:16Z self-limited familial neonatal-infantile epilepsy Some cases have seizure onset just outside of the neonatal period (in the first 2 months of life), and the syndrome in this case is called self-limited familial neonatal-infantile epilepsy. self-limited familial and non-familial neonatal seizures MONDO:0100024 This syndrome is characterized by the onset of seizures between 3 and 20 months of age (peak 6 months). Seizures may be frequent at onset but usually remit within 1 year from the onset. In untreated cases there can be isolated or brief clusters of seizures within the period from onset to remission. A minority of individuals may have epilepsy in later life. Some patients (with PRRT2 mutations) may develop paroxysmal kinesiogenic dyskinesia in later life. https://github.com/monarch-initiative/mondo/issues/5740 https://github.com/monarch-initiative/mondo/issues/5792 2018-06-22T23:46:09Z self-limited familial and non-familial infantile seizures self-limited familial infantile epilepsy MONDO:0100025 This syndrome is characterized by onset of refractory focal seizures in the first year of life, with associated severe encephalopathy. Focal seizures arise independently in both hemispheres and can migrate from one cortical region to another randomly but consecutively in the same seizure. Seizures are often prolonged with episodes of status epilepticus. Prognosis is poor with severe neurological disability and reduced life expectancy, although a milder evolution has been reported in a few children. 2018-06-22T23:54:03Z epilepsy of infancy with migrating focal seizures MONDO:0100026 This group of epilepsies are typically is characterized by onset of seizures from day 1 of life to 5 years (peak 12 months). Both sexes are affected, however the male to female ratio is 1:2. Antecedent (including birth) history, head size, neurological and developmental findings reflect the underlying cause (if known). Myoclonic status epilepticus is often the initial presenting seizure type, however other initial seizure types may also occur. Prognosis is unfavorable with severe neurological and developmental impairments typically seen. 2018-06-22T23:56:39Z myoclonic encephalopathy in non-progressive disorder MONDO:0100028 Epilepsies that have a distinct immune-mediated etiology with evidence of central nervous system inflammation, that has been demonstrated to be associated with a substantially increased risk of developing epilepsy. 2018-06-23T00:11:14Z immune epilepsy MONDO:0100029 An immune epilepsy where the underlying cause is antibody mediated. 2018-06-23T00:52:42Z antibody mediated epilepsy MONDO:0100030 An epilepsy syndrome that has an onset during the adolescent or adult stage of life. https://github.com/monarch-initiative/mondo/issues/1640 2018-06-23T01:43:18Z This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. adolescent/adult-onset epilepsy syndrome MONDO:0100031 A genetic focal epilepsy, with focal sensory auditory seizures seen in family members. Seizures often comprise such mild symptoms that they are undiagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled. 2018-06-23T01:47:18Z autosomal dominant partial/lateral temporal epilepsy with auditory features adolescent/adult onset autosomal dominant epilepsy with auditory features MONDO:0100032 This syndrome is identified in an individual who has seizures with temporal lobe features with a family history of similar seizures. Seizures often comprise such mild symptoms that they are undiagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled. 2018-06-23T01:48:38Z familial temporal lobe epilepsy syndrome MONDO:0100033 Metabolic epilepsies are conceptualized as having a distinct metabolic abnormality that has been demonstrated to be associated with a substantially increased risk of developing epilepsy in appropriately designed studies. Metabolic disorders have genetic origin; however, the metabolic abnormalities are a separate disorder interposed between the genetic defect and the epilepsy. 2018-06-23T18:55:00Z metabolic epilepsy MONDO:0100034 Cerebral folate deficiency is defined as a neurological syndrome associated with low CSF 5-methyltetrahydrofolate (5MTHF), the active folate metabolite, in the presence of normal folate metabolism outside the nervous system. Cerebral folate deficiency can result from either disturbed folate transport or from increased folate turnover within the central nervous system. 2018-06-23T19:01:19Z cerebral folate deficiency MONDO:0100035 Structural epilepsies are conceptualized as having a distinct structural brain abnormality that has been demonstrated to be associated with a substantially increased risk of epilepsy in appropriately designed studies. The structural brain abnormality can be acquired (such as due to stroke, trauma or infection) or may be of genetic origin; however, as we currently understand it, the structural brain abnormality is a separate disorder interposed between the acquired or genetic defect and the epilepsy. 2018-06-23T19:24:32Z structural epilepsy MONDO:0100036 An epilepsy syndrome that has an onset during variable ages and stages of life. 2018-06-23T19:42:08Z variable age at onset electroclinical syndrome variable age onset epilepsy MONDO:0100037 A pityriasis rubra pilaris that has a juvenile onset. The peak incidence has a bimodal distribution, with the first peak at age six to seven yearss. The classical childhood-onset subtype of PRP usually develops in the late teenage years but may also be seen in the first few years of life. https://github.com/monarch-initiative/mondo/issues/3470 https://orcid.org/0000-0001-5208-3432 juvenile onset PRP juvenile onset pityriasis rubra pilaris MONDO:0100038 A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy). https://github.com/monarch-initiative/mondo/issues/3680 2018-06-29T18:21:11Z complex neurodevelopmental disorder complex neurodevelopmental disorder MONDO:0100039 A monogenic disease that has material basis in mutation in the CDKL5 gene. https://github.com/monarch-initiative/mondo/issues/202 https://github.com/monarch-initiative/mondo/issues/5588 2018-06-29T18:32:48Z CDKL5 disorder CDKL5 inherited genetic disease inherited genetic disease caused by mutation in CDKL5 CDKL5 CDKL5-related disorder Subtypes of the heterogeneous, eponymously named Early Infantile Epileptic Encephalopathy, Atypical Rett Syndrome, West Syndrome are caused by mutations in the gene CDKL5. The common and most penetrant phenotype shared among these disease entities is early onset epilepsy, progressive microcephaly, dysmorphic facial features, and intellectual disability, with stereotypic hand movements, respiratory impairment with breath holding and hyperventilation having variable phenotypic expressivity. CDKL5 disorder MONDO:0100040 A monogenic disease that has material basis in mutation in the FOXG1 gene. https://github.com/monarch-initiative/mondo/issues/5588 2018-06-29T19:29:48Z FOXG1 disorder FOXG1 inherited genetic disease inherited genetic disease caused by mutation in FOXG1 Subtypes of the heterogeneous, eponymously named Congenital variant of Rett Syndrome, and Atypical Rett Syndrome are caused by mutations in the gene FOXG1. The common and most penetrant phenotype shared among these disease entities is neurodevelopmental impairment present in early infancy, progressive microcephaly, and MRI of the brain showing reduced myelinization and/or abnormal corpus callosum. Stereotypic hand movements, epilepsy, and abnormal breathing can have variable phenotypic expressivity. FOXG1 disorder MONDO:0100041 A type of trimethylaminuria that occurs as the result of treatment with large doses of dietary precursors of the offending chemical. Symptoms develop when the ability of the liver enzyme (flavin-containing monooxygenase 3) is insufficient to break down (metabolize) the excess trimethylamine. https://github.com/monarch-initiative/mondo/issues/3448 https://orcid.org/0000-0001-5208-3432 secondary trimethylaminuria https://rarediseases.org/rare-diseases/trimethylaminuria/ MONDO:0100042 https://github.com/monarch-initiative/mondo/issues/2419 http://orcid.org/0000-0001-5208-3432 cardiac conduction disorder conduction disorder disorder of cardiac conduction heart conduction disorder cardiac conduction defect MONDO:0100043 https://github.com/monarch-initiative/mondo/issues/4882 http://orcid.org/0000-0001-5208-3432 An inherited susceptibility or predisposition to developing epidermodysplasia verruciformis. epidermodysplasia verruciformis, susceptibility to MONDO:0100044 https://orcid.org/0000-0001-5208-3432 AFFN dysostosis 1 acrofrontofacionasal dysostosis 1 acrofrontofacionasal dysostosis type 1 acrofrontofacionasal dysostosis 1 MONDO:0100045 https://github.com/monarch-initiative/mondo/issues/4521 http://orcid.org/0000-0001-5208-3432 EV1 epidermodysplasia verruciformis 1 epidermodysplasia verruciformis, susceptibility to, 1 MONDO:0100046 An inherited susceptibility or predisposition to developing exfoliation syndrome. http://orcid.org/0000-0001-5208-3432 pseudoexfoliation glaucoma pseudoexfoliation of the lens pseudoexfoliation syndrome exfoliation syndrome, susceptibility to MONDO:0100047 An inherited susceptibility or predisposition to developing basal cell carcinoma. https://github.com/monarch-initiative/mondo/issues/4882 http://orcid.org/0000-0001-5208-3432 basal cell carcinoma, susceptibility to MONDO:0100048 An inherited susceptibility or predisposition to developing graft vs. host disease. https://github.com/monarch-initiative/mondo/issues/5493 http://orcid.org/0000-0001-5208-3432 GVHDS graft-versus-host disease, susceptibility to MONDO:0100049 An inherited susceptibility or predisposition to developing narcolepsy. https://github.com/monarch-initiative/mondo/issues/4882 http://orcid.org/0000-0001-5208-3432 narcolepsy, susceptibility to MONDO:0100050 Any Usher syndrome in which the cause of the disease is a mutation in the CDH23 and PCDH15 genes. https://orcid.org/0000-0001-5208-3432 Usher syndrome, type 1D/F, CDH23/PCDH15, digenic USH1D/F, CDH23/PCDH15, digenic Usher syndrome, type 1D/F MONDO:0100051 Mast cell activation syndrome where neither an allergy or other underlying disease is association, nor KIT-mutated mast cells are detectable. 2018-07-17T21:46:53Z idiopathic MACS idiopathic mast cell activation syndrome MONDO:0100052 Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days, with improvement upon therapy with acetazolamide. 2018-07-25T17:53:07Z acetazolamide-responsive hereditary episodic ataxia MONDO:0100053 An acute hypersensitivity reaction that occurs from exposure to an allergen. It results from the release of histamine and histamine-like substances from mast cells, and can present with breathing difficulty due to narrowed airways, dizziness and hypotension, skin rash, weak pulse, nausea and vomiting. https://github.com/monarch-initiative/mondo/issues/4614 2018-08-15T17:39:34Z anaphylactic shock systemic anaphylaxis anaphylaxis MONDO:0100054 Idiopathic anaphylaxis is a rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment. 2018-08-15T17:39:53Z idiopathic anaphylaxis MONDO:0100055 Intraosseous spindle cell rhabdomyosarcoma characterized by the fusion of the EWSR1 or FUS gene with the TFCP2 gene, or the MEIS1 gene with the NCOA2 gene. https://orcid.org/0000-0001-5208-3432 intraosseous rhabdomyosarcoma with FUS-TFCP2 fusion intraosseous rhabdomyosarcoma defined by FUS-TFCP2 fusion intraosseous spindle cell rhabdomyosarcoma with TFCP2/NCOA2 rearrangements MONDO:0100056 A rare disorder in which anaphylaxis occurs in association with physical activity. 2018-08-15T17:51:10Z EIAn exercise-induced anaphylaxis https://rarediseases.info.nih.gov/diseases/6392/exercise-induced-anaphylaxis MONDO:0100057 A subset of exercise-induced anaphylaxis in which symptoms develop if exertion takes place within a few hours of eating a specific food. In the case of food-dependent exercise-induced anaphylaxis, neither the food nor the exercise alone is enough to cause anaphylaxis. 2018-08-15T17:55:08Z food-dependent exercise-induced anaphylaxis https://rarediseases.info.nih.gov/diseases/6392/exercise-induced-anaphylaxis MONDO:0100058 Elevated levels of plasma valine and leucine/isoleucine levels, associated with symptoms of headache and mild memory loss and attributed to biallelic variants in the BCAT2 gene. BCAT2 encodes branched-chain aminotransferase 2 which catalyzes the transamination of the branched chain amino acids to their respective α-keto acids. https://github.com/monarch-initiative/mondo/issues/4521 2018-08-31T20:51:10Z HVLI branched-chain aminotransferase deficiency hypervalinemia and hyperleucine-isoleucinemia hypervalinemia or hyperleucine-isoleucinemia hypervalinemia and hyperleucine-isoleucinemia MONDO:0100059 Long-lasting, unexplained and asymptomatic blood hypereosinophilia. 2018-09-12T23:02:52Z HEUS benign eosinophilia hypereosinophilia of undetermined significance MONDO:0100060 Congenital/infantile spindle cell rhabdomyosarcoma characterized by the presence of gene fusions involving the VGLL2, SRF, TEAD1, NCOA2, and CITED2 genes. https://github.com/monarch-initiative/mondo/issues/4069 https://orcid.org/0000-0001-5208-3432 congenital/infantile spindle cell rhabdomyosarcoma with VGLL2/NCOA2/CITED2 rearrangements MONDO:0100061 A peripheral neuropathy that is characterized by variants in PRPS1, which causes decreased or impaired function of the PRPS1 enzyme, and presents as a range of peripheral neuropathies that can include features of Charcot-Marie Tooth syndrome, Arts syndrome, or nonsyndromic hearing loss. 2018-10-10T21:18:33Z PRPS1 deficiency disorder PRPS1-related CMTX5/Arts syndrome/XLNSHL Individuals, both male and female, have been reported with familial missense variants in the PRPS1 gene. These patients have been described in the literature as having a range of phenotypes characterized as Arts syndrome, Charcot Marie Tooth syndrome, and non-syndromic hearing loss segregating in an X-linked pattern. Severity and presence of phenotypes makes it difficult to separate the non-syndromic and syndromic forms of hearing loss disorders associated with this gene. PRPS1 deficiency disorder MONDO:0100062 A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity. https://github.com/monarch-initiative/mondo/issues/3680 2018-10-10T22:04:15Z DEE EIEE Ohtahara syndrome developmental and epileptic encephalopathy early infantile epileptic encephalopathy early infantile epileptic encephalopathy with burst-suppression early infantile epileptic encephalopathy with suppression-bursts epileptic encephalopathy, early infantile epileptic encephalopathy, infantile infantile epileptic encephalopathy infantile spasm Individuals, both male and female, have been reported with variants in the GABRB3 gene. De novo and familial cases have been reported, with mostly missense and a few nonsense variants identified as causative. These patients have been described in the literature as having a range of phenotypes characterized as epileptic encephalopathy, Lennox-Gastaut syndrome, Dravet syndrome-like, and childhood absence epilepsy. Severity of intellectual disability is variable among reported probands, as is the age of onset of seizure phenotypes. In one case of epileptic encephalopathy, for example, the individual presented with severe intellectual disability while seizures onset at 12 years old. Additionally, individuals have been reported with the same de novo missense variants, and have been described with varying phenotypes. developmental and epileptic encephalopathy MONDO:0100063 A rare soft tissue neoplasm that displays a perivascular pattern of spindle-to-ovoid cell proliferation. 2018-11-09T22:50:48Z Pericytoma t(7;12) Pericytoma with t(7;12) MONDO:0100064 Tyrosine hydroxylase (TH) deficiency is an autosomal recessive disorder characterized by a spectrum of phenotypic features, based on severity and response to levodopa. It can be broadly categorized into TH-deficient dopa-responsive dystonia (mild, with dramatic and sustained response to levodopa), TH-deficiency infantile parkinsonism with motor delay (severe, with incomplete response to levodopa), and TH-deficiency infantile encephalopathy (very severe, with little to no response to levodopa). 2018-11-09T23:43:34Z TH deficiency tyrosine 3-monooxygenase deficiency tyrosine Hydroxylase deficiency tyrosine hydroxylase deficiency tyrosine hydroxylase deficiency MONDO:0100065 A tyrosine hydroxylase deficiency with onset typically between age three and 12 months. Motor milestones are overtly delayed in this severe form. Affected infants demonstrate truncal hypotonia and parkinsonian symptoms and signs (hypokinesia, rigidity of extremities, and/or tremor). 2018-11-10T00:07:39Z tyrosine hydroxylase infantile parkinsonism and motor delay TH-deficient infantile parkinsonism and motor delay MONDO:0100066 A tyrosine hydroxylase deficiency in which individuals are extremely sensitive to levodopa therapy. In this very severe form, treatment with levodopa is often limited by intolerable dyskinesias. 2018-11-10T00:10:46Z tyrosine hydroxylase-deficient progressive infantile encephalopathy TH-deficient progressive infantile encephalopathy MONDO:0100067 A spindle cell rhabdomyosarcoma occurring in children. https://orcid.org/0000-0001-5208-3432 childhood spindle cell rhabdomyosarcoma MONDO:0100068 SLC10A7 deficiency is characterized by compound heterozygous mutations in the SLC10A7 gene, a gene of unknown function in humans. It combines overlapping clinical phenotypes characterized by short stature, defective enamel formation (amelogenesis imperfecta), skeletal dysplasia, facial dysmorphism, moderate hearing impairment and mildly impaired intellectual developmen. 2018-12-14T19:28:28Z SLC10A7 deficiency SLC10A7-CDG SLC10A7-congenital disorder of glycosylation SLC10A7-congenital disorder of glycosylation MONDO:0100069 A syndromic genetic deafness characterized by segregation of nonsyndromic hearing loss in females and hearing loss with infertility in males. Affected males have been reported to have low count to absent sperm, immobile sperm, and/or sperm with abnormal morphology. 2018-12-17T19:16:55Z HIIMS hearing impairment and infertile male syndrome There appear to be two distinct diseases that segregate with autosomal recessive variants. AR variants in CDC14A segregate in at least two families with nonsyndromic hearing loss in which affected males have fathered children (PMID:29293958). Additionally, there are at least five families that segregate with AR variants in CDC14A in which affected females have nonsyndromic hearing loss and affected males have hearing loss and infertility (PMID:29293958). hearing impairment and infertile male syndrome MONDO:0100070 A disease or disorder that affects the neuroendocrine gland, any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli. 2018-12-17T22:24:52Z neuroendocrine system disease neuroendocrine disorder MONDO:0100071 Cardiocutaneous syndromes are those in which phenotypic manifestations occur in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern and autosomal recessive, which may lead to earlier and/or more severe phenotypic presentation. 2019-01-18T17:28:41Z cardiocutaneous syndrome MONDO:0100072 Neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts is characterized by the three primary phenotypes of neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts. Cases have reported additional varying phenotypes, including optic atrophy, hypothyroidism, severe neonatal hypotonia in males, developmental delay, facial abnormalities, and a few other more rare phenotypes. The severity and congenital onset of the phenotypes distinguish these patients from Wolfram-like syndrome patients. https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/582 2019-01-23T23:06:10Z This phenotype has been found in association with de novo heterozygous variants in WFS1. The mechanism for disease has been proposed as gain-of-function by De Franco et al 2017 (PMID:28468959). The mechanism for disease and severity of phenotype distinguish these affected individuals from Wolfram-like syndrome patients, which have also been linked to heterozygous WFS1 variants (non-de novo). neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts MONDO:0100073 Infections caused by a strain of Staphylococcus aureus that is non-susceptible to the action of the antibiotic, methicillin. The mechanism of resistance usually involves modification of normal or the presence of acquired penicillin binding proteins. https://orcid.org/0000-0001-5208-3432 MRSA methicillin-resistant staphylococcus aureus infectious disease MONDO:0100074 Infections caused by viruses of the genus in the family caliciviridae, which is associated with epidemic gastroenteritis in humans. https://orcid.org/0000-0001-5208-3432 norovirus infectious disease MONDO:0100075 A traumatic or pathologic injury to the jaw in which the continuity of the bone is broken. 2019-02-06T06:57:26Z https://orcid.org/0000-0001-5208-3432 lower jaw fracture upper jaw fracture jaw fracture MONDO:0100076 A scoliosis with no known cause arising in a juvenile. https://orcid.org/0000-0001-5208-3432 juvenile idiopathic scoliosis MONDO:0100077 A congenital alveolar dysplasia characterized anatomically by a defective and hypoplastic development of pulmonary alveoli that is commonly associated with atelectasis and can be responsible for atelectasis. https://github.com/monarch-initiative/mondo/issues/3190 https://github.com/monarch-initiative/mondo/issues/4069 https://orcid.org/0000-0001-5208-3432 CAD congenital alveolar dysplasia MONDO:0100078 A severe medical condition which is estimated to appear in 9-18% of hypertensive patients, in which treatement with 3 or more antihypertensive drugs including diuretics are ineffective. drug resistant hypertension resistant hypertension MONDO:0100079 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN1A gene. https://github.com/monarch-initiative/mondo/issues/4521 https://orcid.org/0000-0001-5208-3432 DEE6 EIEE6 developmental and epileptic encephalopathy, 6 epileptic encephalopathy, early infantile, 6 Dravet syndrome EEEI6 is the OMIM placeholder for SCN1A-related severe epilepsies. The vast majority of SCN1A-related severe epilepsies, including Dravet syndrome, are not early infantile by definition, thereby creating a oxymoronic conflict within the ontology. We recommend describing the phenotype, ie Dravet syndrome, or the genetic eitology, ie SCN1A to represent the concept in question. This is distinct from MONDO:0011794 Dravet syndrome. See https://github.com/monarch-initiative/mondo/issues/745 developmental and epileptic encephalopathy, 6 MONDO:0100080 Cardioectodermal syndromes are those in which phenotypic manifestations occur in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern, or in an autosomal recessive inheritance pattern which may result in an earlier and/or more severe phenotypic presentation. https://orcid.org/0000-0001-5208-3432 cardio-ectodermal syndrome cardioectodermal syndrome MONDO:0100081 A change from the patient's baseline sleeping pattern, in the hours slept and/or an alteration/dysfunction in the stages of sleep. https://orcid.org/0000-0001-5208-3432 disturbances, sleep sleep disturbance sleep disturbances parasomnia sleep disorder MONDO:0100082 Any Noonan syndrome with multiple lentigines in which the cause of the disease is a heterozygous mutation in the PTPN11 gene on chromosome 12q24. LEOPARD syndrome 1 LEOPARD syndrome type 1 LPRD1 lentiginosis, cardiomyopathic multiple lentigines syndrome LEOPARD syndrome 1 MONDO:0100083 This is an autosomal dominant disorder caused by mutations in the RUNX1 gene and is characterized by mild to moderate thrombocytopenia, platelet functional and/or ultrastructural defects and a predisposition to hematologic malignancies, most often AML and MDS, and less frequently T-ALL. https://orcid.org/0000-0001-5208-3432 FPD/AML syndrome FPS/AML syndrome familial platelet disorder with associated myeloid malignancy familial platelet syndrome with predisposition to acute myelogenous leukemia hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 FPDMM asprin-like platelet disorder familial thrombocytopenia with propensity to acute myelogenous leukemia platelet disorder, aspirin-like platelet disorder, familial, with associated myeloid malignancy thrombocytopenia, familial, with propensity to acute myelogenous leukemia hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 MONDO:0100084 A musculoskeletal system disorder that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle α-actin gene (ACTA1). These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, myopathic face, respiratory dysfunction, and rarely cardiac involvement. Specific skeletal muscle structural lesions visible on muscle biopsy include actin accumulations, nemaline and intranuclear bodies, fiber-type disproportion, cores, caps, dystrophic features and zebra bodies. Disorders associated with ACTA1 pathogenic variants can have autosomal dominant (90%) or recessive (10%) inheritance. https://github.com/monarch-initiative/mondo/issues/900 actin myopathy actinopathy ACTA1 disease alpha actinopathy alpha-actinopathy The most penetrant phenotype among all of the actinopathy disease entities is muscular weakness. While nemaline myopathy is the most common presentation, several other myopathies have been reported in association with ACTA1 mutations. The absence of clearly defined and/or distinct differences in molecular mechanism, coupled with noted phenotypic variability (both intra- and inter-familial) for individual variants, indicates that these entities are part of the same clinical spectrum. alpha-actinopathy MONDO:0100085 A cancer that involves the upper limb long bone. https://orcid.org/0000-0001-5208-3432 cancer of fore limb long bone cancer of long bone of fore limb cancer of long bone of forelimb cancer of long bone of upper extremity cancer of upper extremity long bone long bones of upper limb cancer malignant neoplasm of upper limb long bone malignant upper limb long bone neoplasm cancer of long bone of upper limb MONDO:0100086 A condition affecting an unborn or newly born individual, where the perinatal period is defined in humans as commencing at 22 completed weeks (154 days) of gestation and ending seven completed days after birth. Other, broader definitions of perinatal period cover five months before birth to one month after birth. https://orcid.org/0000-0001-5208-3432 perinatal condition perinatal disorder perinatal disease MONDO:0100087 A degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. About 25% of all Alzheimer disease is familial (more than 2 people in a family have AD). When Alzheimer disease begins before 60 or 65 years of age (early-onset AD) about 60% of the cases are familial (also known as Early-onset familial AD). These cases appear to be inherited in an autosomal dominant manner. https://orcid.org/0000-0001-5208-3432 Alzheimer disease, familial FAD GARD:0000632 familial Alzheimer disease MONDO:0100089 X-Linked cytopenia characterized by anemia and/or thrombocytopenia. Additional features including platelet dysfunction, dyserythropoesis, mild beta-thalassemia, neutropenia, or congenital erythropoetic porphyria may be present. These GATA1 variants are germline as opposed to GATA1 variants seen in leukemia. https://orcid.org/0000-0001-5208-3432 GATA1-Related Cytopenia GATA1-Related X-Linked Cytopenia GATA1-Related X-Linked Cytopenia MONDO:0100090 Any congenital alveolar dysplasia in which the cause of the disease is a mutation in the FGF10 gene. https://github.com/monarch-initiative/mondo/issues/3190 https://github.com/monarch-initiative/mondo/issues/4069 https://orcid.org/0000-0001-5208-3432 CAD due to FGF10 congenital alveolar dysplasia due to FGF10 MONDO:0100091 An inheritable form of pseudoxanthoma elasticum (PXE), that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs (claudication); or bleeding in the gastrointestinal tract, particularly the stomach. A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin. ABCC6 is the only gene known to be associated with this condition. Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders, and by having regular physical examinationswith their primary physician. inherited Gronblad Strandberg syndrome inherited PXE Pathophysiology: In PXE, there is mineralization (accumulation of calcium and other minerals) and fragmentation of the elastin-containing fibers in connective tissue, but primarily in the midlaminar layer of the dermis, Bruch's membrane and the midsized arteries.[12] Recent studies hypothesize that PXE is a metabolic disease, and that its features arise because metabolites of vitamin K cannot reach peripheral tissues inherited pseudoxanthoma elasticum https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum MONDO:0100092 Familial cortical myoclonus caused by heterozygous mutation in the SCN8A gene on chromosome 12q13. https://orcid.org/0000-0001-5208-3432 MYOCL2 myoclonus, familial, 2 MONDO:0100093 Familial cortical myoclonus caused by heterozygous mutation in the NOL3 gene on chromosome 16q22. https://orcid.org/0000-0001-5208-3432 myoclonus, familial cortical FCM MYOCL1 myoclonus, familial, 1 MONDO:0100094 A syndrome of cyclic vomiting associated with cannabis use. Fourteen diagnostic characteristics have been identified, and the frequency of major characteristics is as follows: history of regular cannabis for any duration of time (100%), cyclic nausea and vomiting (100%), resolution of symptoms after stopping cannabis (96.8%), compulsive hot baths with symptom relief (92.3%), male predominance (72.9%), abdominal pain (85.1%), and at least weekly cannabis use (97.4%). Supportive care with intravenous fluids, dopamine antagonists, topical capsaicin cream, and avoidance of narcotic medications has shown some benefit in the acute setting. Cannabis cessation appears to be the best treatment. https://orcid.org/0000-0001-5208-3432 CHS cannabinoid hyperemesis syndrome MONDO:0100095 Autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development, with cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable. The cause is mutations in the ADPRHL2 gene. https://orcid.org/0000-0001-5208-3432 CONDSIAS neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:0100096 A disease caused by infection with severe acute respiratory syndrome coronavirus 2. https://orcid.org/0000-0001-5208-3432 2019 novel coronavirus infection 2019-nCoV infection coronavirus disease 2019 severe acute respiratory syndrome coronavirus 2 infectious disease 2019 novel coronavirus 2019-nCoV SARS-CoV-2 SARS-coronavirus 2 beta-CoV beta-CoVs betacoronavirus severe acute respiratory syndrome coronavirus 2 β-CoV β-CoVs β-coronavirus COVID-19 MONDO:0100097 Any congenital alveolar dysplasia in which the cause of the disease is a mutation in the TBX4 gene. https://github.com/monarch-initiative/mondo/issues/3190 https://orcid.org/0000-0001-5208-3432 CAD due to TBX4 congenital alveolar dysplasia due to TBX4 MONDO:0100098 A dopa-responsive dystonia characterized by marked motor delay, but no intellectual disablity, and only minimal, if any, hyperphenylalaninemia. https://github.com/monarch-initiative/mondo/issues/5433 http://orcid.org/0000-0001-5208-3432 dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive MONDO:0100099 A syndrome characterized by the inability to belch, abdominal bloating and discomfort/nausea, or chest pain, especially after eating, socially awkward gurgling noises from the chest and lower neck as though the esophagus is churning and straining to eject the air, excessive flatulence, social inhibition, and difficulty vomiting (common but not universal). Botulinum toxin (BT) injection into the cricopharyngeus muscle (CPM) is done for both diagnosis and treatment of R-CPD. https://github.com/monarch-initiative/mondo/issues/3712 https://orcid.org/0000-0001-5208-3432 R-CPD retrograde cricopharyngeus dysfunction MONDO:0100100 Myopathy caused by pathogenic variants in SELENON that is congenital or present early in childhood with neonatal hypotonia, delayed motor development, axial muscle weakness, scoliosis, and significant respiratory involvement. Spinal rigidity of varying severity is often present. https://orcid.org/0000-0001-5208-3432 SELENON-related myopathy SEPN1-related myopathy SELENON-related myopathy MONDO:0100101 Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the MUSK gene. https://orcid.org/0000-0001-5208-3432 FADS1 Pena-Shokeir syndrome type 1 Pena-Shokeir syndrome, type 1 fetal akinesia deformation sequence 1 MONDO:0100102 Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the RAPSN gene. https://orcid.org/0000-0001-5208-3432 FADS2 fetal akinesia deformation sequence 2 MONDO:0100103 Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the DOK7 gene. https://orcid.org/0000-0001-5208-3432 FADS3 fetal akinesia deformation sequence 3 MONDO:0100104 Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the NUP88 gene. FADS4 fetal akinesia deformation sequence 4 MONDO:0100105 An autosomal recessive disorder resulting from fragility of cerebral vessels causing an increased risk of intracranial bleeding. The resultant phenotype is highly variable depending on timing and location of the intracranial bleed. Some patients may have onset in utero or early infancy, with subsequent global developmental delay, spasticity, and porencephaly on brain imaging. Other patients may have normal or mildly delayed development with sudden onset of intracranial hemorrhage causing acute neurologic deterioration. https://orcid.org/0000-0001-5208-3432 BSVD3 brain small vessel disease 3 MONDO:0100107 Non-neonatal early-onset epileptic encephalopathy is a form an of age-related epileptic encephalopathies, characterized by the onset of seizures later than the first 4 weeks of life but within the first three months. Seizures can be generalized or lateralized, independent of the sleep cycle and can occur multiple times per day, leading to psychomotor impairment and death. non-neonatal early infantile epileptic encephalopathy MONDO:0100108 TPM3-related myopathy is a disorder of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle γ-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, motor delay, myopathic facies, scoliosis, and sometimes respiratory involvement. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, fiber-type disproportion, and dystrophic features even in patients with the same mutation. https://orcid.org/0000-0001-5208-3432 TPM3 myopathy TPM3-related myopathy congenital myopathy related to TPM3 autosomal dominant TPM3-related myopathy The most penetrant phenotype among all of the TPM3-related myopathy disease entities is muscular weakness. While nemaline myopathy is the most common presentation, several other myopathies have been reported in association with TPM3 mutations. The absence of clearly defined and/or distinct differences in molecular mechanism, coupled with noted phenotypic variability (both intra- and inter-familial) for individual variants, indicates that these entities are part of the same clinical spectrum. TPM3-related myopathy MONDO:0100109 A rare condition comprising a triad of unilateral renal agenesis, ipsilateral seminal vesicle obstruction and ipsilateral ejaculatory duct obstruction. https://orcid.org/0000-0001-5208-3432 Zinner syndrome MONDO:0100110 https://orcid.org/0000-0001-5208-3432 adenovirus renal infection MONDO:0100111 A Mendelian diseases characterized by global developmental delay and renal dysfunction manifest as proteinuria and nephrotic syndrome apparent from infancy or early childhood. Some patients present with renal disease, whereas others present with developmental delay and develop renal disease later in childhood. Renal biopsy shows focal segmental glomerulosclerosis (FSGS), but the course of the disease is variable: some patients have transient proteinuria and others require renal transplant. Neurodevelopmental features are also variable, with some patients having only mildly impaired intellectual development, and others having a severe developmental disorder associated with early-onset refractory seizures or epileptic encephalopathy. Additional features, including feeding difficulties, poor overall growth, and nonspecific dysmorphic facial features, are commonly observed. https://github.com/monarch-initiative/mondo/issues/3530 https://orcid.org/0000-0001-5208-3432 FSGSNEDS focal segmental glomerulosclerosis and neurodevelopmental syndrome MONDO:0100112 A disorder of a single peroxisomal protein, acyl-CoA binding domain containing protein 5, which forms a contact site between the peroxisomes and the ER. The deficiency is characterized by elevated blood very long-chain fatty acids (VLCFAs), retinal dystrophy, cerebral white matter disease and psychomotor delay. https://github.com/monarch-initiative/mondo/issues/2632 https://orcid.org/0000-0001-5208-3432 ACBD5 deficiency acyl-CoA binding domain containing protein 5 deficiency acyl-CoA binding domain containing protein 5 deficiency MONDO:0100113 Nonsyndromic deafness, keratitis-ichthyosis-deafness syndrome, and palmoplantar keratoderma with deafness have all been associated with autosomal dominant variants in GJB2. Reported cases share hearing loss as a feature, therefore it is likely that these phenotypes exist along a spectrum of the same disease, differing in severity of skin phenotypes. hearing loss with skin disease MONDO:0100114 Dry age related macular degeneration is characterized by the presence of age-related deposits called drusen and atrophy. https://orcid.org/0000-0001-5208-3432 dry AMD dry ARMD dry age related macular degeneration MONDO:0100115 An acute onset of focal limb weakness that is associated mainly with gray matter abnormalities or CSF pleocytosis, but which is without an apparent cause. AFM acute flaccid myelitis MONDO:0100116 A viral respiratory infection that is caused by the MERS coronavirus (MERS-CoV), which most often manifests with moderate to severe respiratory symptoms, including productive cough and shortness of breath, which can progress to pneumonia and acute respiratory distress syndrome. https://orcid.org/0000-0001-5208-3432 MERS camel flu Middle East respiratory syndrome MONDO:0100118 An instance of skin disease that is caused by a modification of the individual's genome. https://github.com/monarch-initiative/mondo/issues/5682 https://orcid.org/0000-0001-5208-3432 disease, genetic skin diseases, genetic skin genetic skin disease genetic skin diseases genodermatosis skin disease, genetic genetic skin disorder MONDO:0100119 http://orcid.org/0000-0001-5208-3432 Knobloch syndrome 2 MONDO:0100120 An infectious disease where a pathogen is carried and transmitted by another organism that acts as disease vector. https://orcid.org/0000-0001-5208-3432 vector-borne infection vector-borne infectious disease vector-borne disease MONDO:0100121 Any congenital myopathy in which the cause of the disease is a mutation in the SCN4A gene. It include is a spectrum of autosomal recessive disorders including congenital myasthenic syndrome, fetal hypokinesia, and congenital myopathy. SCN4A-related myopathy, autosomal recessive congenital myopathy with "corona" fibers, selective muscle atrophy, and craniosynostosis congenital myopathy with severe fetal hypokinesia myopathy with ptosis and mild dystrophic pattern SCN4A-related myopathy, autosomal recessive MONDO:0100122 An autosomal recessive mucolipidosis disorder caused by bi-allelic variants in the GNPTAB gene. Symptoms of this condition occur across a clinical spectrum including mucolipidosis type II (ML II) and mucolipidosis type III alpha/beta (ML IIIα/β), and phenotypes intermediate between ML II and ML IIIα/β. https://github.com/monarch-initiative/mondo/issues/5565 http://orcid.org/0000-0001-5208-3432 GNPTAB-related disorder UDP-N-acetylglucosamine-1-phosphotransferase subunit alpha/beta deficiency MONDO:0100123 Bronchiolitis as a response to a toxic exposure. https://github.com/monarch-initiative/mondo/issues/5259 http://orcid.org/0000-0001-5208-3432 This is different from bronchiolitis obliterans. Brochiolitis obliterans is diagnosed by a biopsy. toxic bronchiolitis MONDO:0100124 Ab X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the NAA10 gene. Patients with variants in the NAA10 gene demonstrate symptoms such as developmental delay, intellectual disability, autism spectrum disorder, hypotonia, facial dysmorphism, cardiac anomalies, and/or skeletal anomalies. https://github.com/monarch-initiative/mondo/issues/5588 https://orcid.org/0000-0001-5208-3432 NAA10 X-linked syndromic intellectual disability NAA10-related syndrome X-linked syndromic intellectual disability caused by mutation in NAA10 NAA10-related syndrome MONDO:0100125 A perceptual disorder caused by intoxication with hallucinogen drugs, especially LSD. It is characterized by the recurrence of perceptive disturbances that first develop during intoxication. The contents of the perception and visual imagery range extensively and symptoms may include visual disturbances, hallucinations, and psychoses. hallucinogen abuse with hallucinogen persisting perception disorder hallucinogen-persisting perception disorder MONDO:0100126 An inborn error of proline/orinthine metabolism that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene. These variants lead to a variety of neurocutaneous and motor syndromes characterized by cutis laxa, connective tissue weakness, facial dysmorphism, growth restriction, developmental delay, cataracts, hypotonia, hypertonia, and amyotrophy. https://orcid.org/0000-0001-5208-3432 P5CS deficiency delta1-pyrroline-5-carboxylate synthetase deficiency P5CS deficiency MONDO:0100127 Toxic bronchiolitis whereby a biospy has shown an obliteration of broncioles. https://github.com/monarch-initiative/mondo/issues/5259 http://orcid.org/0000-0001-5208-3432 toxic bronchiolitis obliterans MONDO:0100128 The simultaneous infection of a host by multiple pathogen species. https://orcid.org/0000-0001-5208-3432 coinfection MONDO:0100129 A cystic malformation that is characterized by extraparenchymal, nonneoplastic accumulations of fluid with density similar to that of cerebrospinal fluid. https://orcid.org/0000-0001-5208-3432 arachnoid cysts, intracranial intracranial arachnoid cysts intracranial arachoid cyst MONDO:0100130 A very severe form of acute pulmonary failure secondary to capillary permeability impairment. The symptoms include dyspnea, hypotension and multivisceral failure. The disease is characterized by bilateral pulmonary infiltrates and severe hypoxemia due to increased alveolar-capillary permeability. The severity depends on the degree of alveolar epithelial injury, with a mortality rate of 30-50%. https://orcid.org/0000-0001-5208-3432 adult ARDS adult RDS adult acute respiratory distress syndrome adult respiratory distress syndrome adult respiratory distress syndrome, ARDS respiratory distress syndrome, adult ARDS adult acute respiratory distress syndrome MONDO:0100131 Acute respiratory distress syndromet that occurs in pediatric patients and includes findings of new infiltrates (unilateral or bilateral) consistent with acute parenchymal disease, edema not fully explained by fluid overload or cardiac failure, and may present as new acute lung disease in setting of chronic lung disease and/or heart disease, and perinatal lung disease is excluded. https://orcid.org/0000-0001-5208-3432 PARDS pediatric acute respiratory distress syndrome MONDO:0100132 An adenosquamous carcinoma that arises from the intrahepatic bile ducts. https://orcid.org/0000-0001-5208-3432 intrahepatic bile duct adenosquamous carcinoma MONDO:0100133 A type of mitochondrial disease charcterized by macrocephaly (large head) with progressive leukodystrophy, encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. The disease is caused by mutations in any of many genes and the inheritance pattern depends on the responsible gene. https://orcid.org/0000-0001-5208-3432 NADH coenzyme Q reductase deficiency complex 1 mitochondrial respiratory chain deficiency isolated NADH-CoQ reductase deficiency isolated NADH-coenzyme Q reductase deficiency isolated NADH-ubiquinone reductase deficiency isolated complex I deficiency isolated mitochondrial respiratory chain complex I deficiency mitochondrial complex I deficiency https://rarediseases.info.nih.gov/diseases/3908/mitochondrial-complex-i-deficiency MONDO:0100134 https://orcid.org/0000-0001-5208-3432 mitochondrial complex I deficiency, mitochondrial type MONDO:0100135 Dravet syndrome is a channelopathy with epilepsy of with onset during the first year of life, typically 4-5 months, characterized by status epilepticus and a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Dravet differs from other channelopathies usually due to a mutation in SCN1A. https://orcid.org/0000-0001-5208-3432 DS Dravet syndrome SME myoclonic epilepsy, severe, of infancy This is a distinct class from MONDO:0100079 epileptic encephalopathy, early infantile 6. See https://github.com/monarch-initiative/mondo/issues/745 Dravet syndrome https://rarediseases.info.nih.gov/diseases/10430/dravet-syndrome MONDO:0100137 Accelerated aging syndromes often caused by inheritable gene mutations resulting in decreased telomere lengths. STS short telomere syndrome telomere syndrome MONDO:0100138 A mitochondrial myopathy caused by defects in the MICOS subunit gene APOO (MIC26). Modelling in yeast and flies demonstrate an inability to insert MICOS complex into the inner mitohondrial membrane. Associated symptoms include, lactic acidosis, cognitive impairment and autistic features. X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features X-linked recessive mitochondrial myopathy MONDO:0100144 A tubulinopathy with material basis in TUBB2B that is characterized by variations in R390Q, quadrupedal locomotion, cerebellar hypoplasia and does not have basal ganglia malformations. recessive quadrupedalism Uner Tan Syndrome MONDO:0100146 Variants in the gene ATP6AP2 have been associated with a multitude of diseases, including X-linked syndromic ID Hedera type, X-linked Parkinsonism-spasticity syndrome, and congenital disorder of glycosylation type 2R. Phenotypes include global developmental delay, intellectual disability, progressive neurologic decline, spasticity, seizures, infantile onset of liver failure, recurrent infections, dysmorphic features, and features of parkinsonism (rigidity, resting tremor, bradykinesia). These phenotypes do not appear in all individuals with one of the above disease assertions, but many are overlapping phenotypes. https://github.com/monarch-initiative/mondo/issues/5588 https://orcid.org/0000-0001-5208-3432 ATP6AP2-related disorder ATP6AP2-related disorder MONDO:0100147 A syndromic intellectual disability disorder that is characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Most distinctive features are neurodevelopmental with invariably severely limited speech, cleft or high arched palate, dental anomalies (crowding, macrodontia, abnormal shape), and behavioral issues with or without bone or brain anomalies. https://github.com/monarch-initiative/mondo/issues/5588 https://orcid.org/0000-0001-5208-3432 SAS SATB2 associated disorder SATB2-associated syndrome SATB2 associated disorder MONDO:0100148 A complex neurodevelopmental disorder that is transmitted via X-linked inheritance, and is characterized by intellectual disability, autism and epilepsy. https://github.com/monarch-initiative/mondo/issues/3680 https://orcid.org/0000-0001-5208-3432 X-linked complex neurodevelopmental disorder X-linked complex neurodevelopmental disorder MONDO:0100149 An autosomal recessive, multisystem condition caused by pathogenic variants of the PNPLA6 gene that characterized by peripheral neuropathy, cognitive impairment, lower limb spasticity, muscle weakness, and reduced vibration sense. Additional clinical features may include cerebellar ataxia, hypogonadism, growth hormone deficiency, and hypothyroidism. https://github.com/monarch-initiative/mondo/issues/5527 http://orcid.org/0000-0001-5208-3432 PNPLA6-related spastic paraplegia with or without ataxia MONDO:0100150 https://orcid.org/0000-0001-5208-3432 RYR1-related myopathy A disorder of the musculoskeletal system caused by pathogenic variants in the RYR1 gene, which encodes the ryanodine receptor type 1 protein. These variants are associated with a variety of overlapping features characterized by symmetric proximal muscle weakness, often with pronounced facial weakness with or without dysmorphism and ophthalmoparesis/ophthalmoplegia with ptosis, bulbar weakness, significant respiratory involvement, severe neonatal hypotonia, scoliosis, orthopedic deformities including arthrogryposis, hip dislocation, club feet, and King Denborough syndrome (pectus carinatum or excavatum, short stature, joint contractures, facial and skeletal deformities), malignant hyperthermia susceptibility, anesthesia-induced rhabdomyolysis, fatigue, exercise-induced hyperthermia/exertional heat stroke, and exertional myalgia. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include central core disease, multiminicore disease, cone-rod myopathy, centronuclear myopathy, and congenital fiber-type disproportion. RYR1-related myopathy MONDO:0100151 An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction. https://github.com/monarch-initiative/mondo/issues/4521 Abderhalden Kaufmann Lignac syndrome Abderhalden Lignac Kaufmann disease Abderhalden-Kaufmann-Lignac syndrome Abderhalden-Lignac-Kaufmann disease CTNS cystinosis, atypical nephropathic cystinosis, nephropathic nephropathic cystinosis MONDO:0100152 Any dyskeratosis congenita in which the cause of the disease is a mutation in the DKC1 gene. https://orcid.org/0000-0001-5208-3432 DKC1-related disorder DKC1-related disorder MONDO:0100153 A nervous system disorder characterized by complex cortical malformations including in most cases dysmorphic basal ganglia and/or corpus callosum in which the cause of the disease is a variation in a tubulin gene. https://github.com/monarch-initiative/mondo/issues/5506 http://orcid.org/0000-0001-5208-3432 tubulinopathy MONDO:0100154 A tubulinopathy syndrome associated with malformations of cortical development, axon guidance defects, white matter abnormalities, and/or congenital fibrosis of the extraocular muscles (CFEOM), due to de novo or dominantly inherited variants with high penetrance. Individuals may present with variable combinations of malformations of cortical development, dysplasia of the basal ganglia, brainstem, and/or cerebellum, CFEOM, additional cranial nerve involvement, Kallmann syndrome, cyclic vomiting, peripheral neuropathy, and/or contractures. Developmental delays, intellectual disability, ocular motor apraxia, and mirror movements are also frequent features. https://github.com/monarch-initiative/mondo/issues/5506 http://orcid.org/0000-0001-5208-3432 TUBB3-related tubulinopathy MONDO:0100155 An autosomal recessive, multisystem condition caused by pathogenic variants of the PNPLA6 gene, encoding the patatin like phospholipase domain containing 6 protein. RAPH syndrome is characterized by hypogonadism, cerebellar ataxia, retinal dystrophy, peripheral neuropathy, growth hormone deficiency, and cognitive impairment. Additional clinical features may include lower limb spasticity, trichomegaly, alopecia, and facial dismorphism. The term lumps Boucher-Neuhauser, Gordon Holmes, Laurence-Moon, and Oliver-McFarlene syndromes. https://github.com/monarch-initiative/mondo/issues/5562 RAPH syndrome retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome MONDO:0100156 An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but sometimes occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Some patients may present later in childhood with neurologic abnormalities related to B12 deficiency, such as sensorimotor neuropathy and/or cognitive disturbances. https://github.com/monarch-initiative/mondo/issues/4521 https://orcid.org/0000-0001-5208-3432 Imerslund-Grasbeck syndrome 1 Imerslund-Grasbeck syndrome type 1 MGA-1 MGA1 Mga1 enterocyte cobalamin malabsorption enterocyte intrinsic factor receptor, defect of megaloblastic Anemia type 1 megaloblastic anemia, 1 megaloblastic anemia, Finnish type pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria Imerslund-Grasbeck syndrome type 1 MONDO:0100157 An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but usually occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Treatment with vitamin B12 results in sustained clinical improvement of the anemia. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function; correct diagnosis is important to prevent unnecessary treatment. The disorder results from a combination of vitamin B12 deficiency due to selective malabsorption of the vitamin, and impaired reabsorption of LMW proteins in the proximal renal tubule. These defects are caused by disruption of the AMN/CUBN complex that forms the 'cubam' receptor responsible for intestinal uptake of B12/GIF (CBLIF). https://github.com/monarch-initiative/mondo/issues/4521 https://orcid.org/0000-0001-5208-3432 Imerslund-Grasbeck syndrome 2 megaloblastic anemia, Norwegian type Imerslund-Grasbeck syndrome type 2 MONDO:0100158 A spectrum of presentations resulting from biallelic protein-altering variation in CHRNG. Inactivation of the receptor during early development leads to prenatal hypo-akinesia; subsequent phenotypes are a consequence of this hypo-akinesia and are thought to be dependent upon timing and severity of the anomaly at the neuromuscular junction. A range of phenotypes varying in severity (including both lethal and non-lethal presentations) have been reported, but typically include joint contractures, pterygia, dysmorphic features, vertebral and thoracic anomalies, and additional variable abnormalities. There are no clear genotype-phenotype correlations between the lethal and non-lethal presentations of this spectrum; both inter- and intra-familial variability have been reported, with the same variants being observed in both lethal and non-lethal cases. https://github.com/monarch-initiative/mondo/issues/5563 http://orcid.org/0000-0001-5208-3432 This term encompasses both autosomal recessive multiple pterygium syndrome and lethal multiple pterygium syndrome but is not the only possible cause of either of these presentations. CHRNG-associated hypo-akinesia disorder of prenatal onset MONDO:0100159 Abnormally high blood pressure in a newborn child. https://github.com/monarch-initiative/mondo/issues/5530 http://orcid.org/0000-0001-5208-3432 persistent pulmonary hypertension in the newborn pulmonary hypertension, neonatal MONDO:0100160 An acute disease characterized by severe ketoacidosis in the absence of diabetes mellitus and occuring in individuals with a history of prolonged excessive alcohol consumption. Disease manifestations include nausea, intractable vomiting, and abdominal pain. When treated, AKA resolves rapidly and completely with no apparent sequelae. alcoholic acidosis alcoholic ketosis In this disease, you have episodes of acidosis following long bouts of drinking and the ketone bodies seem to be the predominant but not sole type. alcoholic ketoacidosis MONDO:0100161 Renal tubular acidosis (RTA) that is caused by a generalized transport abnormality of the distal tubule. The transport of electrolytes such as sodium, chloride, and potassium that normally occurs in the distal tubule is impaired. This form is distinguished from classical distal RTA and proximal RTA because it results in high levels of potassium in the blood instead of low levels. https://orcid.org/0000-0001-5208-3432 hyperkalemic RTA renal tubular acidosis type 4 type 4 RTA type 4 renal tubular acidosis hyperkalemic renal tubular acidosis MONDO:0100162 Any recessive immunodeficiency (ID), with or without ectodermal dysplasia (EDA), in which the cause of the disease is mutation in the IKBKG gene. ID/EDA-ID patients, always males, are hemizygous for an IKBKG (NEMO) mutation that preserves residual NF-κB activation (hypomorphic mutations) and may also present with osteopetrosis and lymphoedema (OL-EDA-ID). https://github.com/monarch-initiative/mondo/issues/5520 http://orcid.org/0000-0001-5208-3432 NEMO related ID/EDA-ID IKBKG-related immunodeficiency with or without ectodermal dysplasia MONDO:0100163 A inflammatory syndrome in children infected by the SARS-CoV-2 with similarities to Kawasaki disease. Clinical manifestations range from fever and inflammation to myocardial injury, shock, and development of coronary artery aneurysms. https://orcid.org/0000-0001-5208-3432 COVID-19 -related pediatric inflammatory multisystem syndrome COVID-19 Kawasaki-like syndrome COVID-19 associated multisystem inflammatory syndrome in children MIS-C PIMS PIMS-TS PMIS SARS-CoV-2 Kawasaki-like syndrome multisystem inflammatory syndrome in children multisystem inflammatory syndrome in children associated with COVID-19 multisystem inflammatory syndrome in children associated with coronavirus disease 2019 paediatric inflammatory multisystem syndrome: temporally associated with SARS-CoV-2 pediatric inflammatory multisystem syndrome pediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 pediatric multi-system inflammatory syndrome potentially associated with COVID-19 pediatric multisystem inflammatory syndrome The clinical presentation of MIS-C includes fever, severe illness, and the involvement of two or more organ systems, in combination with laboratory evidence of inflammation and laboratory or epidemiologic evidence of SARS-CoV-2 infection. Some features of MIS-C resemble Kawasaki Disease, toxic shock syndrome, and secondary hemophagocytic lymphohistiocytosis/macrophage activation syndrome. COVID-19–associated multisystem inflammatory syndrome in children MONDO:0100164 Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment. https://github.com/monarch-initiative/mondo/issues/4985 https://orcid.org/0000-0001-5208-3432 PDMI PNDM monogenic diabetes of infancy permanent diabetes mellitus of infancy developmental delay, epilepsy, and neonatal diabetes diabetes mellitus, permanent neonatal diabetes mellitus, permanent neonatal, with neurologic features diabetes mellitus, permanent, of infancy permanent neonatal diabetes mellitus https://rarediseases.info.nih.gov/diseases/10457/permanent-neonatal-diabetes-mellitus MONDO:0100165 A rare autosomal recessive disorder characterized by severe hyperglycemia which requires insulin treatment soon after birth. The disorder results from a complete lack of glucokinase; total absence of basal insulin release was observed as well. https://github.com/monarch-initiative/mondo/issues/4521 https://orcid.org/0000-0001-5208-3432 PNDM1 diabetes mellitus, permanent neonatal 1 PDMI diabetes mellitus, permanent, of infancy permanent neonatal diabetes mellitus 1 MONDO:0100166 Any intellectual disability in which the cause of the disease is a mutation in the PPP2R1A gene. https://github.com/monarch-initiative/mondo/issues/5522 http://orcid.org/0000-0001-5208-3432 PPP2R1A-related intellectual disability MONDO:0100167 An inherited susceptibility or predisposition to developing COPD. https://orcid.org/0000-0001-5208-3432 pulmonary disease, chronic obstructive, susceptibility to MONDO:0100168 https://github.com/monarch-initiative/mondo/issues/2808#issuecomment-797765939 http://orcid.org/0000-0001-5208-3432 desmoid tumor caused by somatic mutation MONDO:0100169 https://github.com/monarch-initiative/mondo/issues/2808 https://github.com/monarch-initiative/mondo/issues/5507 CIDP polyneuropathy, inflammatory demyelinating, chronic MONDO:0100170 An inherited susceptibility or predisposition to developing restless legs syndrome. https://github.com/monarch-initiative/mondo/issues/4882 http://orcid.org/0000-0001-5208-3432 restless legs syndrome, susceptibility to MONDO:0100171 An inherited susceptibility or predisposition to developing psoriasis. http://orcid.org/0000-0001-5208-3432 psoriasis, susceptibility to MONDO:0100172 https://orcid.org/0000-0001-5208-3432 mental retardation, autosomal dominant autosomal dominant intellectual disability intellectual disability, autosomal dominant MONDO:0100173 An inherited susceptibility or predisposition to developing leukemia, acute myeloid. https://github.com/monarch-initiative/mondo/issues/4882 http://orcid.org/0000-0001-5208-3432 leukemia, acute myeloid, susceptibility to MONDO:0100174 An inherited susceptibility or predisposition to developing age related macular degeneration. https://github.com/monarch-initiative/mondo/issues/4882 age related macular degeneration, susceptibility to MONDO:0100175 A disorder of the musculoskeletal system caused by pathogenic variants in the TTN gene encoding the titin protein expressed in striated muscle. These variants are associated with a variety of overlapping congenital and adult-onset myopathies characterized by non-progressive or progressive neck, axial, and limb weakness, joint contractures, early-onset respiratory insufficiency, facial weakness, congenital cardiac anomalies and/or early-onset dilated cardiomyopathy. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include increased internalized and central nuclei, minicores, and dystrophic changes. https://orcid.org/0000-0001-5208-3432 TTN myopathy congenital myopathy related to TTN In the absence of evidence supporting distinct differences in molecular mechanisms between the associated disease entities, as well as considerable phenotypic overlap, these entities can be considered part of a clinical spectrum of TTN-related myopathy. TTN-related myopathy MONDO:0100176 A genetic disorder associated with variation(s) in the AP4 genes: AP4B1, AP4E1, AP4M1, and AP4S1. The phenotypes observed in individuals with genetic variants in these genes are often complex and include intellectual disability, spastic paraplegia, microcephaly, brain abnormalities, and seizures. https://orcid.org/0000-0001-5208-3432 AP-4 deficiency syndrome AP-4 deficiency syndrome MONDO:0100177 An inherited susceptibility or predisposition to developing allergic rhinitis. https://github.com/monarch-initiative/mondo/issues/4882 allergic rhinitis, susceptibility to allergic rhinitis, susceptibility to MONDO:0100178 An inherited susceptibility or predisposition to developing atopic dermatitis. https://github.com/monarch-initiative/mondo/issues/4882 dermatitis, atopic, susceptibility to MONDO:0100179 An inherited susceptibility or predisposition to developing Hirschsprung disease. https://github.com/monarch-initiative/mondo/issues/4882 http://orcid.org/0000-0001-5208-3432 Hirschsprung disease, susceptibility to MONDO:0100180 An inherited susceptibility or predisposition to developing diabetes mellitus, ketosis. https://github.com/monarch-initiative/mondo/issues/4882 KPD diabetes mellitus, ketosis-prone diabetes mellitus, ketosis-prone, susceptibility to diabetes mellitus, ketosis-prone MONDO:0100181 An inherited susceptibility or predisposition to developing atopic dermatitis. A genomewide linkage study revealed highly significant evidence for linkage on 3q21 (ATOD1) at marker D3S3606. https://github.com/monarch-initiative/mondo/issues/5855 http://orcid.org/0000-0001-5208-3432 ATOD1 dermatitis, atopic, susceptibility to, 1 dermatitis, atopic, 1 MONDO:0100182 An inherited susceptibility or predisposition to developing schizophrenia. http://orcid.org/0000-0001-5208-3432 schizophrenia, susceptibility to MONDO:0100183 A susceptibility or predisposition to radioulnar synostosis in which the cause of the disease is a mutation in the SMAD6 gene. http://orcid.org/0000-0001-5208-3432 radioulnar synostosis, nonsyndromic, susceptibility to MONDO:0100184 A disease characterized by a deficiency in GTP cyclohydrolase I, which leads to a consequent reduction in BH4 and reduces the activity of three BH4-cofactor dependent enzymes - phenylalanine hydroxylase, tyrosine hydroxylase, and tryptophan hydroxylase. GTP cyclohydrolase I deficiency encompasses a spectrum of disease that includes autosomal dominant and autosomal recessive forms, with severity correlating with the residual enzyme activity. Individuals who are heterozygous for pathogenic variants in GCH1 have symptoms ranging from none (due to reduced penetrance) to dopa-responsive dystonia, which is the most common presentation in symptomatic cases, to rarer neurological presentations such as adult-onset "benign" parkinsonism, various types of focal dystonia, and symptoms simulating cerebral palsy or spastic paraplegia. Hyperphenylalaninemia is absent, and patients respond well to treatment with levodopa. Individuals who are homozygous or compound heterozygous for pathogenic variants in GCH1 typically present with hyperphenylalaninemia, often identified by newborn screening, and severe neurological features and due to very low or undetectable enzyme activity. Treatment with levodopa, BH4, and 5-hydroxytryptophan can improve the symptoms but does not prevent development of severe encephalopathy. Rare cases of GTP cyclohydrolase I deficiency with a phenotype that is intermediate in severity between dopa-responsive dystonia and the severe autosomal recessive form have also been described, supporting the existence a phenotypic spectrum of disease. https://orcid.org/0000-0001-5208-3432 GTP cyclohydrolase I deficiency GTP-cyclohydrolase I deficiency GTP cyclohydrolase I deficiency MONDO:0100185 An inflammatory condition that arises after initiating antiretroviral therapy (ART) therapy in HIV-infected patients that results from restored immunity to specific infectious or non-infectious antigens. https://orcid.org/0000-0001-5208-3432 IRD IRIS IRS immune reconstitution syndrome immune restoration disease immune reconstitution inflammatory syndrome associated with Kaposi sarcoma immune reconstitution inflammatory syndrome MONDO:0100186 https://orcid.org/0000-0001-5208-3432 GTPCH deficiency hyperphenylalaninemia due to GTP cyclohydrolase deficiency hyperphenylalaninemia, Bh4-deficient, type B GTP cyclohydrolase 1 deficiency GTP cyclohydrolase I deficiency HPABH4B hyperphenylalaninemia, BH4-deficient, B hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to GTP cyclohydrolase 1 deficiency GTP cyclohydrolase I deficiency with hyperphenylalaninemia https://rarediseases.info.nih.gov/diseases/2844/gtp-cyclohydrolase-i-deficiency MONDO:0100187 A constipation disorder caused by use of opiods. OIC may present immediately when a patient takes the opioid, or it may present gradually during opioid therapy. https://github.com/monarch-initiative/mondo/issues/5542 http://orcid.org/0000-0001-5208-3432 OIC opioid-induced constipation MONDO:0100188 A hypoalphalipoproteinemia that is has its basis in the disruption of ApoA-I and ApoC-III. https://github.com/monarch-initiative/mondo/issues/4925 https://orcid.org/0000-0001-5208-3432 ApoA-I and apoC-III deficiency, combined combined ApoA-I and ApoC-III deficiency MONDO:0100189 A rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD). https://orcid.org/0000-0001-5208-3432 ApoA-I deficiency familial apoA-I deficiency familial hypoalphalipoproteinemia apolipoprotein A-I deficiency MONDO:0100190 Metaplastic changes in the lining of the upper digestive tract. https://github.com/monarch-initiative/mondo/issues/5594 http://orcid.org/0000-0001-5208-3432 GIM intestinal metaplasia gastric intestinal metaplasia MONDO:0100191 A type of genetic disorder manifestations of primary clinical importance in the and that primarily results from alterations in one gene or from an alternation of the genome affecting one or more gene or functional element. Said genetic or genomic alteration may be inherited from one or both parents or may occur de novo. https://github.com/monarch-initiative/mondo/issues/5681 http://orcid.org/0000-0001-5208-3432 inherited kidney disease inherited renal disorder inherited kidney disorder MONDO:0100192 A liver disease characterized by the liver losing or has lost all of its function. https://orcid.org/0000-0001-5208-3432 hepatic failure liver failure MONDO:0100193 Liver failure that develops slowly and gradually for some time, possibly for years, often as the result of cirrhosis, or malnutrition. https://orcid.org/0000-0001-5208-3432 ESLD end stage liver disease end stage liver disease (decompensated liver disease) end-stage liver disease chronic liver failure MONDO:0100194 A severe early presentation of osteoporosis in which young women experience low trauma or spontaneous fractures, most commonly vertebral fractures, during late pregnancy or lactation. https://orcid.org/0000-0001-5208-3432 pregnancy and lactation-associated osteoporosis pregnancy associated osteoporosis MONDO:0100195 An X-linked intellectual disability in which the cause of the disease is a mutation in the SOX3 gene, with variable phenotypes including growth hormone deficiency due to hypopituitarism. It is undetermined if SOX3 is the only gene associated with this disease. https://github.com/monarch-initiative/mondo/issues/5588 https://orcid.org/0000-0001-5208-3432 X-linked intellectual disability with hypopituitarism MONDO:0100196 A congenital myopathy of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle beta-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, amyotrophy, hypotonia, myopathic facies, scoliosis, and sometimes contractures among other phenotypes. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, core-like lesions, fiber-type disproportion, and dystrophic features all observed to some degree. https://orcid.org/0000-0001-5208-3432 TPM2 myopathy TPM2-related myopathy autosomal dominant TPM2-related myopathy congenital myopathy related to TPM2 The most penetrant phenotype among all of the TPM2-related myopathy disease entities is muscular weakness. Notably, other developmental disorders such as distal arthrogryposis have also been reported in association with TPM2 mutations. While phenotypic and mechanistic similarities demonstrate that the TPM2-related myopathy disorders share a similar pathogenic mechanism, these developmental disorders characterized primarily by contractures are not considered part of the same spectrum as this entity. TPM2-related myopathy MONDO:0100197 A disease caused by infection with parainfluenza virus. There are four serotypes which cause respiratory illnesses in children and adults. https://github.com/monarch-initiative/mondo/issues/2063 https://orcid.org/0000-0001-5208-3432 HPIV infectious disorder parainfluenza (disorder) parainfluenza infectious disorder human parainfluenza virus infectious disorder human parainfluenza viruses infectious disorder Note - this is purposely unaxiomitized with an NCBI taxonomy term because it does not align with NCBI taxonomy. parainfluenza infectious disease MONDO:0100198 An instance of encephalopathy that is caused by an inherited genomic modification in an individual. https://github.com/monarch-initiative/mondo/issues/5671 http://orcid.org/0000-0001-5208-3432 Mendelian encephalopathy MONDO:0100199 https://github.com/monarch-initiative/mondo/issues/5720 http://orcid.org/0000-0001-5208-3432 diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate MONDO:0100200 Microcephaly characterized by both microcephaly and atypical neurodevelopment, without other commonly reported non-brain related phenotypes. https://github.com/monarch-initiative/mondo/issues/5725 http://orcid.org/0000-0001-5208-3432 microcephaly with neurodevelopmental phenotypes microcephaly with intellectual disability MONDO:0100201 A vertebral column disorder caused by degeneration of intervertebral discs of the lumbar spine. One of the most common musculoskeletal disorders, it has strong genetic determinants. https://github.com/monarch-initiative/mondo/issues/5507 https://github.com/monarch-initiative/mondo/issues/5633 http://orcid.org/0000-0001-5208-3432 lumbar disc disease MONDO:0100202 https://github.com/monarch-initiative/mondo/issues/5507 https://github.com/monarch-initiative/mondo/issues/5633 http://orcid.org/0000-0001-5208-3432 lumbar disc herniation, susceptibility to MONDO:0100203 A disease caused by infection with parainfluenza virus type 1. https://github.com/monarch-initiative/mondo/issues/2063 https://orcid.org/0000-0001-5208-3432 human respirovirus 1 infectious disease infection caused by human parainfluenza virus 1 infection due to human parainfluenza virus 1 parainfluenza 1 infection Note - this is purposely unaxiomitized because it does not align with NCBI taxonomy. parainfluenza virus type 1 infectious disease MONDO:0100204 A disease caused by infection with parainfluenza virus type 2. https://github.com/monarch-initiative/mondo/issues/2063 https://orcid.org/0000-0001-5208-3432 human rubulavirus 2 infectious disease infection caused by human parainfluenza virus 2 infection due to human parainfluenza virus 2 Note - this is purposely unaxiomitized because it does not align with NCBI taxonomy. parainfluenza virus type 2 infectious disease MONDO:0100205 A disease caused by infection with parainfluenza virus type 4. https://github.com/monarch-initiative/mondo/issues/2063 https://orcid.org/0000-0001-5208-3432 human rubulavirus 4 infectious disease infection caused by human parainfluenza virus 4 infection due to human parainfluenza virus 4 infection caused by parainfluenza virus 4 infection due to parainfluenza virus 4 Note - this is purposely unaxiomitized because it does not align with NCBI taxonomy. parainfluenza virus type 4 infectious disease MONDO:0100206 https://github.com/monarch-initiative/mondo/issues/5507 https://github.com/monarch-initiative/mondo/issues/5633 http://orcid.org/0000-0001-5208-3432 lumbar disc degeneration, susceptibility to MONDO:0100207 Epilepsy starting in the first 12 months of life, including self-limiting and refractory seizures, and epilepsies with and without developmental disorders. https://github.com/monarch-initiative/mondo/issues/5740 http://orcid.org/0000-0001-5208-3432 Note, this differs from MONDO:0020071 'infantile epilepsy syndrome', as there are forms of this disease that do not have a syndromic presentation. infantile-onset epilepsy MONDO:0100208 An epilepsy syndrome associated with infantile period seizures, complete or nearly-complete seizure remission afterwards, usually good developmental outcome, and dominant transmission with high penetrance in pedigrees. For most affected infants, seizures begin within the first week after term birth. In a minority, however, seizures can begin after the first week but within the first several months of life. At onset, seizures may be highly recurrent, and often feature unilateral tonic limb stiffening that may alternate sides from seizure to seizure, accompanied by cyanosis and autonomic features. Limb shaking movements occur, but not in the evolving rhythmic pattern of tonic-clonic convulsions in older individuals. Neurological examination of the infant is normal between seizures. Although these seizures remit by 4-12 months of age in the majority, 15-30% of those affected have one or more seizure recurrences later, including febrile seizures, focal-onset seizures, and convulsions. Although most affected children show typical development, individuals with mild learning difficulties have been reported in families where the majority develop typically. https://github.com/monarch-initiative/mondo/issues/5793 http://orcid.org/0000-0001-5208-3432 self-limited familial neonatal-infantile epilepsy MONDO:0100209 https://orcid.org/0000-0001-5208-3432 This is a placeholder class for what we expect will be a future OMIM grouping class (phenotypic series). X inactivation, familial skewed MONDO:0100210 https://orcid.org/0000-0001-5208-3432 growth hormone insensitivity syndrome with immune dysregulation MONDO:0100211 https://orcid.org/0000-0001-5208-3432 Laron syndrome due to postreceptor defect Laron syndrome with immunodeficiency Laron-like syndrome growth hormone insensitivity due to postreceptor defect short stature due to STAT5b deficiency growth hormone insensitivity with immunodeficiency growth hormone insensitivity with immune dysregulation 1, autosomal recessive MONDO:0100212 https://github.com/monarch-initiative/mondo/issues/2114 https://orcid.org/0000-0001-5208-3432 IFAP syndrome MONDO:0100213 An X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome. https://github.com/monarch-initiative/mondo/issues/4521 https://orcid.org/0000-0001-5208-3432 IFAP syndrome IFAP syndrome with or without BRESHECK syndrome IFAP syndrome with or without BRESHECK syndrome, X-linked recessive IFAP/BRESHECK syndrome ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, Ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia ichthyosis follicularis-alopecia-photophobia syndrome ichthyosis follicularis-atrichia-photophobia syndrome ichthyosis follicularis atrichia photophobia syndrome IFAP syndrome with or without BRESHECK syndrome MONDO:0100214 https://orcid.org/0000-0001-5208-3432 Rajab interstitial lung disease with brain calcifications MONDO:0100215 https://orcid.org/0000-0001-5208-3432 brain calcification, Rajab type neurodevelopmental disorder with brain, liver, and lung abnormalities NEDBLLA Rajab syndrome developmental delay, small stature, microcephaly, and brain calcifications Rajab interstitial lung disease with brain calcifications 1 MONDO:0100216 Pathogenic germline variation in DICER1 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including pleuropulmonary blastoma, pulmonary cysts, thyroid gland neoplasia, ovarian tumors, and cystic nephroma. Other syndromic features such as macrocephaly have been described. https://github.com/monarch-initiative/mondo/issues/5779 http://orcid.org/0000-0001-5208-3432 DICER1-related tumor predisposition MONDO:0100218 https://orcid.org/0000-0001-5208-3432 AMC5 ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 arthrogryposis multiplex congenita 5 MONDO:0100219 https://github.com/monarch-initiative/mondo/issues/4521 https://orcid.org/0000-0001-5208-3432 GHISID2 GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT growth hormone insensitivity with immune dysregulation 2, autosomal dominant growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant MONDO:0100220 https://orcid.org/0000-0001-5208-3432 RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2 RILDBC2 Rajab interstitial lung disease with brain calcifications 2 MONDO:0100221 https://github.com/monarch-initiative/mondo/issues/4521 https://orcid.org/0000-0001-5208-3432 IFAP SYNDROME 2 IFAP2 ichthyosis , follicular, with atrichia and photophobia syndrome 2 ichthyosis follicularis, atrichia, and photophobia syndrome 2 IFAP syndrome 2 MONDO:0100222 Any immune dysregulation disease in which the cause of the disease is a mutation in the TNFAIP3 gene. https://orcid.org/0000-0001-5208-3432 HA20 A20 haploinsufficiency MONDO:0100223 https://orcid.org/0000-0001-5208-3432 Editor note: We split out the nuclear type subclass, as OMIMPS:252010 refers to nuclear only. See https://github.com/monarch-initiative/mondo/issues/1042 mitochondrial complex I deficiency, nuclear type MONDO:0100224 https://orcid.org/0000-0001-5208-3432 mitochondrial complex 1 deficiency mitochondrial complex I deficiency MC1DN1 NADH-coenzyme Q reductase deficiency NADH:Q(1) oxidoreductase deficiency mitochondrial NADH dehydrogenase component of Complex I, deficiency of mitochondrial complex I deficiency, nuclear type 1 mitochondrial complex I deficiency, nuclear type 1 MONDO:0100225 A qualitative or quantitative defect of collagen 6 disorder that covers a wide spectrum of musculoskeletal phenotypes caused by dominant and recessive mutations in the three major collagen VI genes: COL6A1, COL6A2, and COL6A3. These variants lead to a variety of overlapping phenotypes, ranging from severe congenital muscle weakness, hypotonia, torticollis and contractures with loss or non-development of ambulation on one end and childhood to adult onset mild muscle weakness, stiffness, and joint hyperlaxity on the other. https://orcid.org/0000-0001-5208-3432 collagen 6-related myopathy collagen VI-related muscle disorder collagen VI-related muscular dystrophy collagen VI-related myopathy collagen 6-related myopathy MONDO:0100226 A disorder in which a series of complex behaviors are initiated during slow-wave (non-REM) sleep and result in walking during sleep. It is a parasomnia, defined as a clinical disorder resulting in undesirable physical phenomena that occur predominantly during sleep. Parasomnias are not abnormalities of the processes responsible for sleep and wake states. Sleepwalking is more common in childhood (up to 26%), and usually resolves in adolescence; however, it can persist into adulthood (3%). https://github.com/monarch-initiative/mondo/issues/2083 https://github.com/monarch-initiative/mondo/issues/4521 sleep walking sleep walking disorder sleepwalking disorder somnambulism PSMNSW parasomnia, sleepwalking type parasomnia, sleepwalking type, multifactorial parasomnia, sleep terrors type Editor note: Consider splitting this into a separate Mendelian form of this disease that is equivalent to the OMIM term. parasomnia, sleepwalking type MONDO:0100227 Any motor neuron disease in which the cause of the disease is a mutation in the ALS2 gene. https://github.com/monarch-initiative/mondo/issues/5830 http://orcid.org/0000-0001-5208-3432 Alsin-related motor neuron disease ALS2-related motor neuron disease MONDO:0100228 Any muscular dystrophy in which the cause of the disease is a mutation in the LAMA2 gene. https://orcid.org/0000-0001-5208-3432 LAMA2-related muscular dystrophy LAMA2-related muscular dystrophy MONDO:0100230 A disorder of plasmalogens biosynthesis, that is an autosomal dominant neurological disorder that results in uncontrolled synthesis of ether lipids. https://orcid.org/0000-0001-5208-3432 FAR1 dysregulation fatty acyl-CoA reductase 1 dysregulation fatty acyl-CoA reductase 1 dysregulation MONDO:0100231 A susceptibility or predisposition to psoriatic arthritis, in which the cause of the disease is a mutation in the LTA gene. Psoriatic arthritis affects more than 10% of patients with psoriasis and, in most cases, there is an association between the severity of the arthritis and the skin involvement. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5507 https://orcid.org/0000-0001-5208-3432 psoriatic arthritis, susceptibility to PSORAS1 psoriatic arthritis susceptibility caused by LTA psoriatic arthritis, susceptibility to, 1 psoriatic arthritis, susceptibility to, 1 MONDO:0100232 An inherited susceptibility or predisposition to developing psoriatic arthritis. psoriatic arthritis, susceptibility psoriatic arthritis, susceptibility to psoriatic arthritis, susceptibility to MONDO:0100233 A chronic disease triggered by acute COVID-19 infection that is characterized by persistent symptoms following the acute phase of the SARS-CoV-2 infection, which may include fatigue, coughing, dyspnea, clouding of mentation, sleep disturbances, exercise intolerance and autonomic symptoms including tachycardia upon mild exercise or standing, night sweats, temperature dysregulation, gastroparesis, constipation or loose stools, and peripheral vasoconstriction. https://orcid.org/0000-0001-5208-3432 PASC long haul COVID-19 long-haul COVID-19 post-acute sequelae of COVID-19 post-acute sequelae of SARS-CoV-2 infection sequelae of COVID-19 long COVID-19 MONDO:0100234 A rare, genetic, cardiac rhythm disease characterized by ventricular fibrillation in the absence of any structural or functional heart disease, or known repolarization abnormalities. The presence of J waves is associated with a higher risk of nocturnal ventricular fibrillation events and a higher risk of recurrence. https://github.com/monarch-initiative/mondo/issues/2524 https://orcid.org/0000-0001-5208-3432 IVF idiopathic ventricular fibrillation idiopathic ventricular fibrillation, non Brugada type paroxysmal familial ventricular fibrillation paroxysmal familial ventricular fibrillation (disorder) paroxysmal ventricular fibrillation ventricular fibrillation, paroxysmal familial paroxysmal familial ventricular fibrillation MONDO:0100235 Any anterior segment dysgenesis in which the cause of the disease is a mutation in the FOXC1 gene. https://github.com/monarch-initiative/mondo/issues/5789 http://orcid.org/0000-0001-5208-3432 The ClinGen Glaucoma and Neuro-Ophthalmology Gene Curation Expert Panel decided to lump the 2 entities (anterior segment dysgenesis 3 and Axenfeld-Rieger syndrome 3) into FOXC1-related anterior segment dysgenesis based on consistent molecular mechanism (loss of function) and mode of inheritance (autosomal dominant), while the phenotypic variability between them appeared to represent a spectrum of disease rather than separate disease entities. FOXC1-related anterior segment dysgenesis MONDO:0100236 Any ocular dysgenesis disorder in which the cause of the disease is a mutation in the LTBP2 gene. https://github.com/monarch-initiative/mondo/issues/5787 http://orcid.org/0000-0001-5208-3432 The ClinGen Glaucoma and Neuro-Ophthalmology Gene Curation Expert Panel decided to lump the three disease entities reported in relation to LTBP2 into LTBP2-related ocular dysgenesis based on similar inheritance patterns and molecular mechanism LTBP2-related ocular dysgenesis MONDO:0100237 An instance of cutis laxa that is inherited. https://orcid.org/0000-0001-5208-3432 hereditary cutis laxa inherited cutis laxa MONDO:0100238 An instance of Fanconi renotubular syndrome that is inherited. https://orcid.org/0000-0001-5208-3432 hereditary Fanconi renotubular syndrome inherited Fanconi renotubular syndrome MONDO:0100239 An instance of hypertrophic pyloric stenosis that is inherited. https://orcid.org/0000-0001-5208-3432 hereditary hypertrophic pyloric stenosis inherited hypertrophic pyloric stenosis MONDO:0100240 An instance of thrombophilia that is inherited. https://orcid.org/0000-0001-5208-3432 hereditary hypercoagulable disorder hereditary thrombophilia thrombophilia, hereditary inherited thrombophilia MONDO:0100241 An instance of thrombocytopenia that is inherited. https://orcid.org/0000-0001-5208-3432 hereditary thrombocytopenia inherited thrombocytopenia MONDO:0100242 An inherited susceptibility or predisposition to developing glioma. https://orcid.org/0000-0001-5208-3432 glioma, susceptibility glioma, susceptibility to glioma susceptibility MONDO:0100244 Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events. https://github.com/monarch-initiative/mondo/issues/4232 https://orcid.org/0000-0001-5208-3432 Marchiafava-Micheli disease PNH acquired paroxysmal nocturnal hemoglobinuria hereditary paroxysmal nocturnal hemoglobinuria inherited paroxysmal nocturnal hemoglobinuria paroxysmal hemoglobinuria paroxysmal nocturnal hemoglobinuria https://rarediseases.info.nih.gov/diseases/7337/paroxysmal-nocturnal-hemoglobinuria MONDO:0100246 An inherited susceptibility or predisposition to developing migraines with or without aura. https://orcid.org/0000-0001-5208-3432 migraine with or without aura, susceptibility migraine with or without aura, susceptibility to migraine with or without aura, susceptibility to MONDO:0100247 https://orcid.org/0000-0001-5208-3432 multiple congenital anomalies-hypotonia-seizures syndrome MONDO:0100248 A subset of primary central nervous system vasculitis where disease is rapidly progressive after onset that is characterized by bilateral, multiple, large cerebral vessel lesions and multiple CNS infarctions. rapidly progressive PCNSV rapidly progressive primary central nervous system vasculitis MONDO:0100249 46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency. https://orcid.org/0000-0001-5208-3432 46,XX testicular DSD 46,XX testicular differences of sex development 46,XX testicular disorder of sex development 46,XX testicular disorders of Sex development De la Chapelle syndrome XX, male syndrome 46, XX gonadal sex reversal XX Male, Sry-positive XX male syndrome XX sex reversal 46,XX testicular disorder of sex development MONDO:0100250 https://github.com/monarch-initiative/mondo/issues/4521 https://orcid.org/0000-0001-5208-3432 ovotesticular DSD ovotesticular disorder of sex development 46,XX SEX reversal 1 46,XX Sex reversal type 1 46,XX Sex reversal, SRY-positive 46,XX gonadal dysgenesis, complete, SRY-positive 46XX sex reversal 1, X-linked dominant SRXX1 46,XX true hermaphroditism, SRY-positive 46,XX sex reversal 1 MONDO:0100251 https://orcid.org/0000-0001-5208-3432 HHS HFTC PHPTC cortical hyperostosis with hyperphosphatemia familial Teutschlaender disease familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome hypercalcemic tumoral calcinosis hyperostosis with hyperphosphatemia hyperphosphatemia hyperostosis hyperphosphatemia hyperostosis syndrome hyperphosphatemia tumoral calcinosis hyperphosphatemic familial tumoral calcinosis lipocalcinogranulomatosis morbus Teutschlaender primary hyperphosphatemic tumoral calcinosis tumoral calcinosis with hyperphosphatemia tumoral calcinosis, hyperphosphatemic, familial, 1 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0100252 https://github.com/monarch-initiative/mondo/issues/4948 https://orcid.org/0000-0001-5208-3432 HFTC HFTC1 Morbus Teutschlaender Teutschlaender disease, familial calcinosis, tumoral, with hyperphosphatemia hyperostosis-hyperphosphatemia syndrome tumoral calcinosis, HYPERPHOSPHATEMIC, familial, 1 tumoral calcinosis, Hyperphosphatemic, familial, 1 tumoral calcinosis, hyperphosphatemic, familial tumoral calcinosis, hyperphosphatemic, familial, 1 tumoral calcinosis, primary Hyperphosphatemic tumoral calcinosis, hyperphosphatemic, familial, 1 MONDO:0100253 A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities. https://github.com/monarch-initiative/mondo/issues/2553 https://github.com/monarch-initiative/mondo/issues/4948 https://orcid.org/0000-0001-5208-3432 RBS Roberts-SC phocomelia syndrome long bone deficiencies associated with cleft lip-palate phocomelia-pseudothalidomide syndrome pseudothalidomide syndrome Roberts-SC phocomelia syndrome MONDO:0100254 A progressive complex neurodevelopmental condition caused by variants in the CACNA1A gene. Phenotypic onset (usually) occurs around age 1 and most often includes intellectual disability but can also include epileptic encephalopathy, benign paroxysmal torticollis of infancy and paroxysmal tonic upgaze psychomotor delay, learning difficulties, absence epilepsy, episodic ataxia, and hemiplegic migraines. https://github.com/monarch-initiative/mondo/issues/5753 http://orcid.org/0000-0001-5208-3432 CACNA1A-related complex neurodevelopmental disorder MONDO:0100255 A rare inborn error of metabolism characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement. https://github.com/monarch-initiative/mondo/issues/2587 https://orcid.org/0000-0001-5208-3432 ADK deficiency ADK hypermethioninemia MRT8 adenosine kinase deficiency autosomal recessive intellectual disability 8 autosomal recessive mental retardation 8 hypermethioninemia due to adenosine kinase deficiency hypermethioninemia encephalopathy due to ADK deficiency hypermethioninemia encephalopathy due to adenosine kinase deficiency mental retardation, autosomal recessive 8 mental retardation, autosomal recessive 8, formerly mental retardation, autosomal recessive 8; MRT8 adenosine kinase deficiency MONDO:0100257 Any peroxisomal disease in which the cause of the disease is a defect in a single enyme or protein. https://orcid.org/0000-0001-5208-3432 peroxisomal single enzyme/protein defect peroxisomal single enzyme/protein defect MONDO:0100258 Any disorder of peroxisomal alpha oxidation in which the cause of the disease is a mutation in the PHYH gene. https://orcid.org/0000-0001-5208-3432 PHYH deficiency PHYH related disorder of peroxisomal alpha oxidation phytanoyl-CoA hydroxylase deficiency phytanoyl-CoA hydroxylase deficiency MONDO:0100259 Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX1 gene. https://github.com/monarch-initiative/mondo/issues/2632 https://orcid.org/0000-0001-5208-3432 PEX1 related Zellweger spectrum disorder peroxisome biogenesis disorder due to PEX1 defect peroxisome biogenesis disorder due to PEX1 defect MONDO:0100260 Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX2 gene. https://github.com/monarch-initiative/mondo/issues/2632 https://orcid.org/0000-0001-5208-3432 PEX2 related Zellweger spectrum disorder peroxisome biogenesis disorder due to PEX2 defect peroxisome biogenesis disorder due to PEX2 defect MONDO:0100261 Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX3 gene. https://github.com/monarch-initiative/mondo/issues/2632 https://orcid.org/0000-0001-5208-3432 PEX3 related Zellweger spectrum disorder peroxisome biogenesis disorder due to PEX3 defect peroxisome biogenesis disorder due to PEX3 defect MONDO:0100262 Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX5 gene. https://github.com/monarch-initiative/mondo/issues/2632 https://orcid.org/0000-0001-5208-3432 PEX5 related Zellweger spectrum disorder peroxisome biogenesis disorder due to PEX5 defect peroxisome biogenesis disorder due to PEX5 defect MONDO:0100263 Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX6 gene. https://github.com/monarch-initiative/mondo/issues/2632 https://orcid.org/0000-0001-5208-3432 PEX6 related Zellweger spectrum disorder peroxisome biogenesis disorder due to PEX6 defect peroxisome biogenesis disorder due to PEX6 defect MONDO:0100264 Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX10 gene. https://github.com/monarch-initiative/mondo/issues/2632 https://orcid.org/0000-0001-5208-3432 PEX10 related Zellweger spectrum disorder peroxisome biogenesis disorder due to PEX10 defect peroxisome biogenesis disorder due to PEX10 defect MONDO:0100265 Any peroxisome biogenesis disorder due to PEX5 in which the cause of the disease is a mutation in the PEX7-binding domain of the PEX5 gene. https://github.com/monarch-initiative/mondo/issues/2632 https://orcid.org/0000-0001-5208-3432 peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain MONDO:0100266 Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX12 gene. https://github.com/monarch-initiative/mondo/issues/2632 https://orcid.org/0000-0001-5208-3432 PEX12 related Zellweger spectrum disorder peroxisome biogenesis disorder due to PEX12 defect peroxisome biogenesis disorder due to PEX12 defect MONDO:0100267 Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX13 gene. https://github.com/monarch-initiative/mondo/issues/2632 https://orcid.org/0000-0001-5208-3432 PEX13 related Zellweger spectrum disorder peroxisome biogenesis disorder due to PEX13 defect peroxisome biogenesis disorder due to PEX13 defect MONDO:0100268 Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX14 gene. https://github.com/monarch-initiative/mondo/issues/2632 https://orcid.org/0000-0001-5208-3432 PEX14 related Zellweger spectrum disorder peroxisome biogenesis disorder due to PEX14 defect peroxisome biogenesis disorder due to PEX14 defect MONDO:0100269 Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX16 gene. https://github.com/monarch-initiative/mondo/issues/2632 https://orcid.org/0000-0001-5208-3432 PEX16 related Zellweger spectrum disorder peroxisome biogenesis disorder due to PEX16 defect peroxisome biogenesis disorder due to PEX16 defect MONDO:0100270 Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX19 gene. https://github.com/monarch-initiative/mondo/issues/2632 https://orcid.org/0000-0001-5208-3432 PEX19 related Zellweger spectrum disorder peroxisome biogenesis disorder due to PEX19 defect peroxisome biogenesis disorder due to PEX19 defect MONDO:0100271 Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX26 gene. https://github.com/monarch-initiative/mondo/issues/2632 https://orcid.org/0000-0001-5208-3432 PEX26 related Zellweger spectrum disorder peroxisome biogenesis disorder due to PEX26 defect peroxisome biogenesis disorder due to PEX26 defect MONDO:0100272 Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX7 gene. https://github.com/monarch-initiative/mondo/issues/2632 https://orcid.org/0000-0001-5208-3432 PEX7 related peroxisome biogenesis disorder adult refsum disease due to PEX7 defect (formerly) rhizomelic chondrodysplasia punctata type 1 (formerly) peroxisome biogenesis disorder due to PEX7 defect MONDO:0100273 Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the GNPAT gene. https://github.com/monarch-initiative/mondo/issues/2632 https://orcid.org/0000-0001-5208-3432 GNPAT deficiency glyceronephosphate O-acyltransferase deficiency glyceronephosphate O-acyltransferase deficiency MONDO:0100274 Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGPS gene. https://github.com/monarch-initiative/mondo/issues/2632 https://orcid.org/0000-0001-5208-3432 AGPS deficiency alkylglycerone-phosphate synthase deficiency alkylglycerone-phosphate synthase deficiency MONDO:0100275 Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the FAR1 gene. https://orcid.org/0000-0001-5208-3432 FAR1 defect fatty acyl-CoA reductase defects fatty acyl-CoA reductase defects MONDO:0100276 A disease that has its basis in the disruption of peroxisome and mitochondrial fission. https://github.com/monarch-initiative/mondo/issues/2632 https://orcid.org/0000-0001-5208-3432 disorder of defective peroxisomal and mitochondrial fission peroxisome and mitochronrial fission disease disorder of defective peroxisomal and mitochondrial fission MONDO:0100277 Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisomal alpha oxidatiion. https://orcid.org/0000-0001-5208-3432 disorder of peroxisomal alpha oxidation disorder of peroxisomal alpha oxidation MONDO:0100278 Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGXT gene. https://orcid.org/0000-0001-5208-3432 AGXT defect AGXT deficiency alanine glyoxylate aminotransferase deficiency alanine glyoxylate aminotransferase deficiency MONDO:0100279 Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX11B gene. https://github.com/monarch-initiative/mondo/issues/2632 https://orcid.org/0000-0001-5208-3432 PEX11B related peroxisome biogenesis disorder peroxisome biogenesis disorder due to PEX11B defect peroxisome biogenesis disorder due to PEX11B defect MONDO:0100280 https://orcid.org/0000-0001-5208-3432 Waldenstrom macroglobulinemia Waldenstrom's macroglobulinemia Waldenström macroglobulinemia lymphoplasmacytic lymphoma with IgM gammopathy Waldenstroem's macroglobulinemia Waldenstrom's macroglobulinaemia Waldenstrom's syndrome macroglobulinemia of Waldenstrom Waldenstrom macroglobulinemia MONDO:0100281 https://orcid.org/0000-0001-5208-3432 WM1 macroglobulinemia, Waldenstrom, somatic macroglobulinemia, waldenstrom, susceptibility to, 1 macroglobulinemia, Waldenstrom, 1 MONDO:0100282 https://github.com/monarch-initiative/mondo/issues/2553 https://github.com/monarch-initiative/mondo/issues/4901 https://orcid.org/0000-0001-5208-3432 hypomelia hypotrichosis facial hemangioma syndrome SC phocomelia syndrome MONDO:0100283 A disease caused by mosaic gain-of-function (GoF) of several genes in the MTOR pathway (MTOR, PIK3CA, PIK3R2 and AKT3) are functionally the same despite significant phenotypic variability. These GoF variants result in overgrowth due to an over-activation of key genes in this pathway. The phenotypic variability is generally attributed to the mosaic fraction and affected tissue types. For example, macrocephaly is noted if the variant is identified in the brain, but non symmetric overgrowth of that limb is noted when the variant is only present in the affected limb. The pathologies of the affected tissue often reveal similar characteristics such as cellular overgrowth. However, this is not always the case especially with focal cortical dysplasia. At times the characteristics pathologies are not present in the tissue but sampling biases are an issue. FCD resections often involve a very small area and so a very small amount of tissue is available for pathology and it is not guaranteed that lesional tissue is sent. Therefore, having a single disease term which can encompass the phenotypic variability yet provide a unifying molecular diagnosis name makes sense given the common functional mechanism. https://orcid.org/0000-0001-5208-3432 overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes MONDO:0100284 An X-linked intellectual deficiency in which not enough information is known, reported or published to indicate whether a gene causes non-syndromic or syndromic presentations. https://github.com/monarch-initiative/mondo/issues/2670 https://orcid.org/0000-0001-5208-3432 X-linked intellectual disability X-linked intellectual disability MONDO:0100285 A disorder of infants in which there is progressive obliteration or discontinuity of the extrahepatic biliary system, resulting in obstruction of bile flow. https://github.com/monarch-initiative/mondo/issues/2663 https://orcid.org/0000-0001-5208-3432 EHBA biliary atresia, extrahepatic extrahepatic biliary atresia MONDO:0100286 Bronciolitis caused by infection with respiratory syncytial virus. https://orcid.org/0000-0001-5208-3432 RSV bronchiolitis respiratory syncytial virus bronchiolitis MONDO:0100288 An autosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. Characteristics include visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration. https://orcid.org/0000-0001-5208-3432 enhanced S-cone syndrome ESCS retinoschisis with early nyctalopia enhanced S-cone syndrome MONDO:0100289 A vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis). https://orcid.org/0000-0001-5208-3432 retinoschisis with early nyctalopia Favre hyaloideoretinal Degeneration Goldmann-Favre syndrome MONDO:0100290 The presence of multiple serrated polyps in the colon. The polyps are predominantly sessile serrated adenomas/polyps. A minority of the polyps are microvesicular variants of hyperplastic polyps. According to some authors, the polyps are proximal to the sigmoid colon. According to others, the polyps are distributed throughout the entire colon. https://orcid.org/0000-0001-5208-3432 colon serrated polyposis MONDO:0100291 T acute lymphoblastic leukemia in which the blasts have unique immunophenotypic and genetic characteristics suggesting only limited early T-cell differentiation. https://github.com/monarch-initiative/mondo/issues/2763 https://orcid.org/0000-0001-5208-3432 ETP ALL ETP-ALL early T acute lymphoblastic leukemia early T-cell precursor acute lymphoblastic leukemia early T-cell precursor lymphoblastic leukemia early T cell progenitor acute lymphoblastic leukemia MONDO:0100294 Complex II deficiency is a mitochondrial disease. Mitochondria are specialized compartments in cells that create more than 90% of the energy needed by the body. In mitochondrial diseases, the mitochondria don't work correctly resulting in less energy in the cell, cell injury and cell death. The signs and symptoms of mitochondrial complex II deficiency can vary greatly from severe life-threatening symptoms in infancy to muscle disease beginning in adulthood. Complex II deficiency can be caused by mutations in the SDHA, SDHB, SDHD, or SDHAF1 genes. In many cases the underlying gene mutations cannot be identified. Complex II deficiency is inherited in an autosomal recessive fashion. Complex II deficiency gene mutation carriers may be at an increased risk for certain cancers. https://orcid.org/0000-0001-5208-3432 isolated mitochondrial respiratory chain complex II deficiency isolated succinate-CoQ reductase deficiency isolated succinate-coenzyme Q reductase deficiency isolated succinate-ubiquinone reductase deficiency mitochondrial complex II deficiency mitochondrial complex II deficiency, nuclear type 1 complex 2 mitochondrial respiratory chain deficiency mitochondrial complex 2 deficiency mitochondrial respiratory chain complex II deficiency succinate CoQ reductase deficiency succinate dehydrogenase deficiency mitochondrial complex II deficiency, nuclear type 1 https://rarediseases.info.nih.gov/diseases/5053/mitochondrial-complex-ii-deficiency MONDO:0100295 https://github.com/monarch-initiative/mondo/issues/5879 http://orcid.org/0000-0001-5208-3432 Alzheimer disease, susceptibility to, mitochondrial Alzheimer disease, susceptibility to, mitochondrial MONDO:0100296 Mutilating palmoplantar keratoderma (PPK) with periorificial keratotic plaques (also known as Olmsted syndrome) is a hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques. https://orcid.org/0000-0001-5208-3432 Olmsted syndrome mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques palmoplantar and periorificial keratoderma palmoplantar keratoderma, mutilating, with periorificial keratotic plaques Olmsted syndrome 1 MONDO:0100297 SSFSC short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 MONDO:0100304 Any peroxisomal single enzyme/protein defect that has its basis in the disruption of bile acid aminotransferase. https://github.com/monarch-initiative/mondo/issues/2632 https://orcid.org/0000-0001-5208-3432 disorder of bile acid aminotransferase disorder of bile acid aminotransferase MONDO:0100305 Any disorder of bile acid aminotransferase in which the cause of the disease is a mutation in the BAAT gene. https://github.com/monarch-initiative/mondo/issues/2632 https://orcid.org/0000-0001-5208-3432 BAAT deficiency bile acid CoA:amino acid N-acyltransferase deficiency bile acid CoA:amino acid N-acyltransferase deficiency MONDO:0100306 Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisome oxidation. https://github.com/monarch-initiative/mondo/issues/2632 https://orcid.org/0000-0001-5208-3432 disorder of defective peroxisome oxidative status disorder of defective peroxisome oxidative status MONDO:0100307 An adult Refsum disease in which the cause of the disease is a mutation in the PEX7 gene. https://github.com/monarch-initiative/mondo/issues/2632 https://orcid.org/0000-0001-5208-3432 adult Refsum disease due to PEX7 defect adult Refsum disease due to PEX7 defect MONDO:0100308 A central nervous system disease that consists of gait impairment, unclear (“scanning”) speech, visual blurring due to nystagmus, hand incoordination, and tremor with movement. https://orcid.org/0000-0001-5208-3432 ataxic disorder ataxia atactic disorder MONDO:0100309 An instance of an atactic disorder that is caused by an inherited genomic modification in an individual. https://orcid.org/0000-0001-5208-3432 rare hereditary ataxia SCA hereditary ataxia https://rarediseases.info.nih.gov/diseases/6614/hereditary-ataxia MONDO:0100310 Cerebellar ataxia that is transmitted from parent to child. https://orcid.org/0000-0001-5208-3432 cerebellar hereditary ataxia hereditary cerebellar ataxia hereditary cerebellar ataxia MONDO:0100311 Any ataxia in which the causes of the disease is a perturbation of the sensory system, leading to its dysfunction. https://orcid.org/0000-0001-5208-3432 sensory ataxia MONDO:0100312 Any ataxia in which the causes of the disease is a perturbation of the vestibular system, leading to its dysfunction. https://orcid.org/0000-0001-5208-3432 vestibular ataxia MONDO:0100315 An ABCD1 deficiency that presents with primary adrenocortical insufficiency between age two years and adulthood and most commonly by age 7.5 years, without evidence of neurologic abnormality; however, some degree of neurologic disability (most commonly adrenomyeloneuropathy (AMN)) usually develops by middle age. https://orcid.org/0000-0001-5208-3432 isolated adrenal insufficiency isolated adrenal insufficiency MONDO:0100316 https://orcid.org/0000-0001-5208-3432 LQT1 long QT syndrome 1 long QT syndrome type 1 ventricular fibrillation with prolonged QT interval long QT syndrome 1, acquired, susceptibility to long QT syndrome 1/2, digenic long QT syndrome 1 MONDO:0100318 A viral disease or post-viral disorder caused by infection with severe acute respiratory syndrome coronavirus 2 or the associated aftereffects of the disease. https://github.com/monarch-initiative/mondo/issues/5899 2023-05-01 https://orcid.org/0000-0001-5208-3432 COVID-19-related disease Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. Term to consider: COVID-19-MONDO:0100096 or 'post-COVID-19 disorder' (MONDO:0100320) SARS-CoV-2-related disease MONDO:0100319 A inflammatory syndrome in adults infected by the SARS-CoV-2 with severe illness requiring hospitalization in a person aged ≥21 years; a positive test result for current or previous SARS-CoV-2 infection (nucleic acid, antigen, or antibody) during admission or in the previous 12 weeks; severe dysfunction of one or more extrapulmonary organ systems (e.g., hypotension or shock, cardiac dysfunction, arterial or venous thrombosis or thromboembolism, or acute liver injury); laboratory evidence of severe inflammation (e.g., elevated CRP, ferritin, D-dimer, or interleukin-6); and absence of severe respiratory illness (to exclude patients in which inflammation and organ dysfunction might be attributable simply to tissue hypoxia). https://orcid.org/0000-0001-5208-3432 MIS-A COVID-19–associated multisystem inflammatory syndrome in adults MONDO:0100320 A SARS-CoV-2-related disease that is caused by infection by SARS-CoV-2, and manifests after the original primary infection. https://orcid.org/0000-0001-5208-3432 post-COVID-19 disorder MONDO:0100321 A viral infectious disease that result from the presence and activity of a viral agent, or a disorder that follows infection with an viral agent but is distinct from the usual manifestations of the infection itself. https://orcid.org/0000-0001-5208-3432 viral infectious disease or sequela viral disease or post-viral disorder MONDO:0100322 A peroxisome biogenesis disorder which is due to defect in PEX7 or PEX5. This includes rhizomelic chondrodysplasia punctata due to defect in PEX7 or PEX5, and adult Refsum Disease due to defects in PEX7. https://github.com/monarch-initiative/mondo/issues/2632 https://orcid.org/0000-0001-5208-3432 non-Zellweger spectrum disorder non-Zellweger spectrum disorder MONDO:0100325 A very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta. https://github.com/monarch-initiative/mondo/issues/4948 https://orcid.org/0000-0001-5208-3432 odontochondrodysplasia Goldblatt chondrodysplasia Goldblatt syndrome ODCD chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome spondylometaphyseal dysplasia with dentinogenesis imperfecta odontochondrodysplasia 1 MONDO:0100326 https://orcid.org/0000-0001-5208-3432 Glanzmann thrombasthenia Glanzmann thrombasthenia MONDO:0100327 https://orcid.org/0000-0001-5208-3432 familial hypercholanemia hypercholanemia, familial hypercholanemia, familial MONDO:0100328 https://orcid.org/0000-0001-5208-3432 microcephaly, epilepsy, and diabetes syndrome MONDO:0100329 The initial viral infectious disase that causes illness. https://github.com/monarch-initiative/mondo/issues/2950 https://orcid.org/0000-0001-5208-3432 primary viral infectious disease MONDO:0100330 An infectious disease that arises from reactivation of a virus from a latent phase to a lytic phase. https://github.com/monarch-initiative/mondo/issues/2950 https://github.com/monarch-initiative/mondo/issues/3251 https://orcid.org/0000-0001-5208-3432 latent infection disease arising from reactivation of latent virus MONDO:0100336 A disease or disorder that result from the presence and activity of a microbial, viral, fungal or parasitic agent, or a disorder that follows infection with an infectious agent but is distinct from the usual manifestations of the infection itself. https://github.com/monarch-initiative/mondo/issues/5861 2023-04-01 https://orcid.org/0000-0001-5208-3432 infectious disease or sequela Reason of obsoletion: out of scope - MONDO:excludeGroupingClass. Term to consider: post-infectious immune dysfunction disease. infectious disease or post-infectious disorder MONDO:0100337 Any Mendelian disease in which the cause of the disease is a mutation in the SEC61A1 gene. It is characterized by variable presentation of phenotypes in patients, including autosomal dominant tubulointerstitial kidney disease, primary antibody deficiency, and severe congenital neutropenia. https://orcid.org/0000-0001-5208-3432 SEC61A1 deficiency The term autosomal dominant tubulointerstitial kidney disease (ADTKD), is recommended to be used instead of familial juvenile hyperurecemic nephropathy. SEC61A1 deficiency MONDO:0100338 urinary tract infection (disease) urinary tract infection (disease) urinary tract infection MONDO:0100339 An inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Many individuals have a form of heart disease called hypertrophic cardiomyopathy. Some develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms around puberty. https://orcid.org/0000-0001-5208-3432 FA FRDA Friedreich ataxia Friedreich's ataxia Friedreich's tabes Friedreich ataxia with retained reflexes hereditary spinal ataxia hereditary spinal sclerosis spinocerebellar ataxia, Friedreich Friedreich ataxia https://rarediseases.info.nih.gov/diseases/6468/friedreich-ataxia MONDO:0100340 Any Friedreich ataxia in which the cause of the disease is a mutation in the FXN gene. https://github.com/monarch-initiative/mondo/issues/4521 https://orcid.org/0000-0001-5208-3432 Friedreich ataxia FRDA1 Friedreich ataxia 1 Friedreich ataxia type 1 Friedreich ataxia 1 MONDO:0100342 A grade III or grade IV glioma arising from the central nervous system. This category includes glioblastoma, anaplastic astrocytoma, anaplastic ependymoma, anaplastic oligodendroglioma, and anaplastic oligoastrocytoma. https://orcid.org/0000-0001-5208-3432 glioma neuroglial tumor glial cell tumor glioma, malignant high grade glioma high-grade glioma malignant glial neoplasm malignant glial tumor malignant glioma malignant neuroglial neoplasm malignant neuroglial tumor malignant glioma MONDO:0100343 A phenotypic variant of Bartter syndrome presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. Hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristically associated. Genotypically they comprise Type 1 and Type 2 Bartter syndrome. https://orcid.org/0000-0001-5208-3432 Bartter syndrome, furosemide type Bartter syndrome, furosemide-amiloride type hyperprostaglandin E syndrome antenatal Bartter syndrome MONDO:0100344 https://github.com/monarch-initiative/mondo/issues/4521 https://orcid.org/0000-0001-5208-3432 Bartter syndrome, furosemide type Bartter syndrome, furosemide-amiloride type hyperprostaglandin E syndrome BARTS1 Bartter disease type 1 Bartter syndrome caused by mutation in SLC12A1 Bartter syndrome type 1 Bartter syndrome type 1 antenatal Bartter syndrome, type 1 SLC12A1 Bartter syndrome hyperprostaglandin E syndrome 1 hypokalemic alkalosis with hypercalciuria 1 antenatal Bartter syndrome antenatal type 1 Bartter syndrome, antenatal, type 1 Bartter syndrome, type 1, antenatal antenatal Bartter syndrome antenatal Bartter syndrome type 1 hypokalemic alkalosis with hypercalciuria 1, antenatal hypokalemic alkalosis with hypercalciuria antenatal 1 hypokalemic alkalosis with hypercalciuria, antenatal, 1 Bartter disease type 1 MONDO:0100345 lactose intolerance (disease) LM - lactose malabsorption lactose intolerance lactose intolerance (disease) lactase persistence lactose intolerance MONDO:0100347 https://orcid.org/0000-0001-5208-3432 carcinoid syndrome malignant carcinoid syndrome carcinoid tumor syndrome carcinoid tumors, intestinal carcinoid syndrome https://rarediseases.info.nih.gov/diseases/5994/carcinoid-syndrome MONDO:0100348 An autosomal recessive disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. More variable features include hypotonia, early-onset seizures, and a peripheral demyelinating or axonal peripheral sensorimotor neuropathy. The disease follows a neurodegenerative course in many patients; clinical features suggest involvement of both the central and peripheral nervous systems. https://github.com/monarch-initiative/mondo/issues/3680 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5167 NEDMILG, AR neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities MONDO:0100349 A Mendelian disease characterized by infantile ataxia with hypo/aplastic vermis, hepatic fibrocirrhosis, slender-shaped skeleton, peculiar face, and moderate intellectual disability. https://github.com/monarch-initiative/mondo/issues/4986 https://orcid.org/0000-0001-5208-3432 JS-H Joubert syndrome with congenital hepatic fibrosis Joubert syndrome with hepatic defect cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis gentile syndrome cerebellar vermis hypo/aplasia, oligophrenia, ataxia congenital, coloboma, and hepatic fibrosis COACH syndrome MONDO:0100350 https://orcid.org/0000-0001-5208-3432 dHMN5 distal HMN V distal hereditary motor neuropathy type V distal spinal muscular atrophy type 5 neuronopathy, distal hereditary motor, type 5 MONDO:0100352 https://orcid.org/0000-0001-5208-3432 PRRT2 episodic kinesigenic dyskinesia PxMD-PRRT2 episodic kinesigenic dyskinesia 1 episodic kinesigenic dyskinesia caused by mutation in PRRT2 episodic kinesigenic dyskinesia type 1 DYT-PRRT2 EKD1 dystonia 10 dystonia, familial paroxysmal paroxysmal kinesigenic choreoathetosis paroxysmal kinesigenic dyskinesia episodic kinesigenic dyskinesia 1 MONDO:0100353 A disease caused by infection with herpesvirus-7. https://orcid.org/0000-0001-5208-3432 HHV-7 infection herpesvirus-7 infectious disease HHV-7 infectious disease MONDO:0100354 https://orcid.org/0000-0001-5208-3432 MMIH syndrome MMIHS megacystis microcolon intestinal hypoperistalsis syndrome megacystis, microcolon, hypoperistalsis syndrome megacystis, microcolon, intestinal hypoperistalsis syndrome megacystis-microcolon-intestinal hypoperistalsis syndrome megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome Berdon syndrome megacystis-microcolon-intestinal hypoperistalsis syndrome 1 MONDO:0100355 A classic (severe) or non-classic (mild or intermediate) form of a genetic disease. https://github.com/monarch-initiative/mondo/issues/3221 https://orcid.org/0000-0001-5208-3432 classic or non-classic genetic disease presentation MONDO:0100356 A severe form of a genetic disease. https://github.com/monarch-initiative/mondo/issues/3221 https://orcid.org/0000-0001-5208-3432 classic presentation MONDO:0100357 A mild or intermediate form of a genetic disease. https://github.com/monarch-initiative/mondo/issues/3221 https://orcid.org/0000-0001-5208-3432 non-classic presentation MONDO:0100358 https://github.com/monarch-initiative/mondo/issues/3293 https://orcid.org/0000-0001-5208-3432 ectodermal dysplasia WNT10A related ectodermal dysplasia WNT10A related MONDO:0100359 A disease caused by infection with herpes simplex type 1. https://github.com/monarch-initiative/mondo/issues/3348 https://orcid.org/0000-0001-5208-3432 herpes simplex type 1 infectious disease MONDO:0100360 A disease caused by infection with herpes simplex type 2. https://github.com/monarch-initiative/mondo/issues/3348 https://orcid.org/0000-0001-5208-3432 herpes simplex type 2 infectious disease MONDO:0100361 Any herpes simplex type 1 infectious disease that involves the lip. This virus usually responsible for cold sores (herpes labialis). https://github.com/monarch-initiative/mondo/issues/3348 https://orcid.org/0000-0001-5208-3432 lip herpes simplex type 1 infectious disorder MONDO:0100362 Any herpes simplex type 2 infectious disease that involves the lip. https://github.com/monarch-initiative/mondo/issues/3348 https://orcid.org/0000-0001-5208-3432 lip herpes simplex type 2 infectious disorder MONDO:0100363 Any herpes simplex type 2 infectious disease that involves the genitals. https://github.com/monarch-initiative/mondo/issues/3348 https://orcid.org/0000-0001-5208-3432 genital herpes simplex type 2 infectious disorder MONDO:0100364 Any herpes simplex type 1 infectious disease that involves the genitals. https://github.com/monarch-initiative/mondo/issues/3348 https://orcid.org/0000-0001-5208-3432 genital herpes simplex type 1 infectious disorder MONDO:0100365 Any disease that presents as a mucopolysaccharidosis or mucopolysaccharidosis-like disorder. https://github.com/monarch-initiative/mondo/issues/3785 https://orcid.org/0000-0001-5208-3432 mucopolysaccharidosis or mucopolysaccharidosis-like disorder MONDO:0100366 Any disorder that is realized in response to an exposure to occupation. https://github.com/monarch-initiative/mondo/issues/3061 https://orcid.org/0000-0001-5208-3432 occupational disorder MONDO:0100367 A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979. https://orcid.org/0000-0001-5208-3432 nova syndrome port-wine nevi-mega cisterna magna-hydrocephalus syndrome MONDO:0100368 A retinopathy, which may include conditions described as retinitis pigmentosa and Leber congenital amaurosis, caused by biallelic variants in the RPE65 gene. https://github.com/monarch-initiative/mondo/issues/3898 recessive RPE65 retinopathy LCA2 Leber congenital amaurosis 2 Leber congenital amaurosis caused by mutation in RPE65 Leber congenital amaurosis type 2 RP20 RPE65 Leber congenital amaurosis RPE65 retinitis pigmentosa amaurosis congenita of Leber 2 amaurosis congenita of Leber II amaurosis congenita of Leber, type 2 retinitis pigmentosa 20 retinitis pigmentosa caused by mutation in RPE65 RPE65-related recessive retinopathy MONDO:0100369 A iatrogenic or non-iatrogenic form of a disease. https://orcid.org/0000-0001-5208-3432 iatrogenic or non-iatrogenic MONDO:0100370 A new infection by the hepatitis B virus, which can be transmitted by direct contact of infected blood with mucous membranes or open areas of the skin. Signs and symptoms may include loss of appetite, joint and muscle pain, low-grade fever and stomach pain. Two to six percent of adults progress to a chronic infection, while 90% of infants become chronically ill. A vaccine is available for those at risk. https://orcid.org/0000-0001-5208-3432 acute hepatitis B acute hepatitis B virus infection MONDO:0100371 A new infection by the hepatitis C virus, which can be detected in blood. Signs and symptoms may include right upper quadrant abdominal pain, jaundice, dark urine, white stools and nausea. Approximately 15%-25% individuals clear the virus from their bodies without treatment. 75%-85% individuals develop chronic hepatitis C. There are possible treatments depending on individual characteristics. acute hepatitis C acute hepatitis C virus infection MONDO:0100372 Any peroxisomal single enzyme/protein defect that disrupts peroxisomal transport. https://github.com/monarch-initiative/mondo/issues/2632 https://orcid.org/0000-0001-5208-3432 disorder of peroxisomal transporter defect disorder of peroxisomal transporter MONDO:0100373 Any acute myeloid leukemia that has the chromosomal anomaly inv(16)(p13.1;q22). (A chromosomal inversion that involves chromosome 16. It is associated with the development of acute myeloid leukemia CBFB-MYH11, acute myelomonocytic leukemia with abnormal eosinophils, and granulocytic sarcoma.) https://github.com/monarch-initiative/mondo/issues/3452 AML, inv(16)(p13.1;q22) AML, inv(16)(p13.1;q22.1) AML, inv(16)(p13.1q22) AML, inv(16)(p13.1q22.1) AML, inv(16)(p13;q22) AML, inv(16)(p13q22) acute myeloid leukemia, inv(16)(p13.1;q22) MONDO:0100374 Any acute myeloid leukemia that has the chromosomal anomaly t(16;16)(p13.1;q22). (A chromosomal translocation that involves chromosome 16. It is often associated with the development of acute myeloid leukemia CBFB-MYH11, acute myelomonocytic leukemia with abnormal eosinophils, and granulocytic sarcoma.) https://github.com/monarch-initiative/mondo/issues/3452 AML, t(16;16)(p13.1;q22) AML, t(16;16)(p13.1;q22.1) AML, t(16;16)(p13.1q22) AML, t(16;16)(p13.1q22.1) AML, t(16;16)(p13;q22) AML, t(16;16)(p13q22) acute myeloid leukemia, t(16;16)(p13.1;q22) MONDO:0100375 Any acute myeloid leukemia that has the chromosomal anomaly t(15;17)(q24;q21). (A chromosomal translocation associated with creation of a fusion between the PML and RARA genes. It is seen in variants of acute promyelocytic leukemia.) https://github.com/monarch-initiative/mondo/issues/3452 AML, t(15;17)(q22;q12) AML, t(15;17)(q22;q21) AML, t(15;17)(q24;q21) acute myeloid leukemia, t(15;17)(q24;q21) MONDO:0100376 Any acute myeloid leukemia that has the chromosomal anomaly t(9;11)(p21.3;q23.3). (A cytogenetic abnormality that refers to the translocation of the short arm (p21.3) of chromosome 9 and the long arm (q23.3) of chromosome 11. It is associated with the development of acute myeloid leukemia with the MLLT3-MLL fusion gene transcript.) https://github.com/monarch-initiative/mondo/issues/3452 https://github.com/monarch-initiative/mondo/issues/3583 AML, t(9;11)(p21.3;q23.3) AML, t(9;11)(p22;q23) acute myeloid leukemia, t(9;11)(p21.3;q23.3) MONDO:0100377 Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p12;q23). (A cytogenetic abnormality that refers to the translocation of chromosome 10p12 with chromosome 11q23. It is associated with acute myeloid leukemia in childhood.) https://github.com/monarch-initiative/mondo/issues/3452 AML, t(10;11)(p12;q23) acute myeloid leukemia, t(10;11)(p12;q23) MONDO:0100378 Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p11.2;q23). (A cytogenetic abnormality that refers to the translocation of the short arm (p11.2) of chromosome 10 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/ABI1 fusions and acute myeloid leukemia.) https://github.com/monarch-initiative/mondo/issues/3452 AML, t(10;11)(p11.2;q23) acute myeloid leukemia, t(10;11)(p11.2;q23) MONDO:0100379 Any acute myeloid leukemia that has the chromosomal anomaly t(1;11)(q21;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q21) of chromosome 1 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/MLLT11 (AF1Q) fusions, acute myeloid leukemia and some cases of acute lymphoblastic leukemia.) https://github.com/monarch-initiative/mondo/issues/3452 AML, t(1;11)(q21;q23) acute myeloid leukemia, t(1;11)(q21;q23) MONDO:0100380 Any acute myeloid leukemia that has the chromosomal anomaly t(4;11)(q21;q23). (A chromosomal abnormality consisting of the translocation of 4q21 with 11q23.) https://github.com/monarch-initiative/mondo/issues/3452 AML, t(4;11)(q21;q23) AML, t(4;11)(q21;q23.3) acute myeloid leukemia, t(4;11)(q21;q23) MONDO:0100381 Any acute myeloid leukemia that has the chromosomal anomaly t(6;11)(q27;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q27) of chromosome 6 and the long arm (q23) of chromosome 11. It is associated with the development of de novo acute myeloid leukemia.) https://github.com/monarch-initiative/mondo/issues/3452 AML, t(6;11)(q27;q23) AML, t(6;11)(q27;q23.3) acute myeloid leukemia, t(6;11)(q27;q23) MONDO:0100382 Any acute myeloid leukemia that has the chromosomal anomaly t(6;9)(p23;q34.1). (A cytogenetic abnormality that refers to the translocation of the short arm (p23) of chromosome 6 and the long arm (q34.1) of chromosome 9. It is associated with DEK/NUP214 fusions, acute myeloid leukemia and myelodysplastic syndromes.) https://github.com/monarch-initiative/mondo/issues/3452 AML, t(6;9)(p22.3;q34.1) AML, t(6;9)(p22;q34) AML, t(6;9)(p23;q34) AML, t(6;9)(p23;q34.1) acute myeloid leukemia, t(6;9)(p23;q34.1) MONDO:0100383 Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23;p13). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the short arm (p13) of chromosome 19. It is associated with KMT2A (MLL) fusions, including those with MLLT1 (ENL) and ELL, and acute myeloid leukemia.) https://github.com/monarch-initiative/mondo/issues/3452 AML, t(11;19)(q23;p13) acute myeloid leukemia, t(11;19)(q23;p13) MONDO:0100384 Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23;p13.1). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the short arm (p13.1) of chromosome 19. It is associated with the development of acute myeloid leukemia with variant MLL translocations and topoisomerase II inhibitor-related acute myeloid leukemia.) https://github.com/monarch-initiative/mondo/issues/3452 AML, t(11;19)(q23;p13.1) acute myeloid leukemia, t(11;19)(q23;p13.1) MONDO:0100385 Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23.3;p13.3). (A cytogenetic abnormality that refers to the translocation of the long arm (q23.3) of chromosome 11 and the short arm (p13.3) of chromosome 19. It is associated with KMT2A (MLL)/MLLT1 (ENL) fusions and acute myeloid leukemia.) https://github.com/monarch-initiative/mondo/issues/3452 AML, t(11;19)(q23.3;p13.3) AML, t(11;19)(q23;p13.3) acute myeloid leukemia, t(11;19)(q23.3;p13.3) MONDO:0100386 Any acute myeloid leukemia that has the chromosomal anomaly t(v;11q23.3). (A chromosomal abnormality consisting of the translocation of genetic material from any one of several chromosomes to the 11q23.3 region, resulting in an MLL gene rearrangement.) https://github.com/monarch-initiative/mondo/issues/3452 AML, 11q23.3 Translocation AML, t(11;v)(q23.3;v) AML, t(11;v)(q23;v) AML, t(V;11)(v;q23) AML, t(V;11)(v;q23.3) AML, t(v;11q23.3) acute myeloid leukemia, t(v;11q23.3) MONDO:0100387 Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 7. (A chromosomal abnormality consisting of the absence of one of the copies of chromosome 7 in somatic cells.) https://github.com/monarch-initiative/mondo/issues/3452 https://github.com/monarch-initiative/mondo/issues/3583 AML, Monosomy 7 acute myeloid leukemia, Monosomy 7 MONDO:0100388 Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 5. (A cytogenetic aneuploidy abnormality that refers to the presence of one chromosome 5 only. It is associated with the development of refractory anemia with excess blasts, refractory anemia with multilineage dysplasia, and refractory anemia with multilineage dysplasia and ringed sideroblasts.) https://github.com/monarch-initiative/mondo/issues/3452 AML, Monosomy 5 acute myeloid leukemia, Monosomy 5 MONDO:0100389 Any acute myeloid leukemia that has the chromosomal anomaly Trisomy 8. (A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells.) https://github.com/monarch-initiative/mondo/issues/3452 AML, Trisomy 8 AML, tri8 acute myeloid leukemia, Trisomy 8 MONDO:0100390 Any acute myeloid leukemia that has the chromosomal anomaly der12p. (A cytogenetic abnormality involving the rearrangement of two or more other chromosomes with the short arm of chromosome 12 (12p).) https://github.com/monarch-initiative/mondo/issues/3452 AML, der(12p) AML, der12p acute myeloid leukemia, der12p MONDO:0100391 Any acute myeloid leukemia that has the chromosomal anomaly t(2;12). (A cytogenetic abnormality that involves a translocation between chromosomes 2 and 12.) https://github.com/monarch-initiative/mondo/issues/3452 AML, t(2;12) acute myeloid leukemia, t(2;12) MONDO:0100392 Any acute myeloid leukemia that has the chromosomal anomaly t(11;17). (A cytogenetic abnormality that involves a translocation between chromosomes 11 and 17.) https://github.com/monarch-initiative/mondo/issues/3452 AML, t(11;17) acute myeloid leukemia, t(11;17) MONDO:0100393 Any acute myeloid leukemia that has the chromosomal anomaly t(8;16). (A cytogenetic abnormality that involves a translocation between chromosomes 8 and 16.) https://github.com/monarch-initiative/mondo/issues/3452 AML, t(8;16) acute myeloid leukemia, t(8;16) MONDO:0100394 Any acute myeloid leukemia that has the chromosomal anomaly t(1;22). (A cytogenetic abnormality that involves a translocation between chromosomes 1 and 22.) https://github.com/monarch-initiative/mondo/issues/3452 AML, t(1;22) acute myeloid leukemia, t(1;22) MONDO:0100395 Any acute myeloid leukemia that has the chromosomal anomaly t(5;11)(q35;p15). (A cytogenetic abnormality that refers to the translocation of chromosome 11p15 with chromosome 5q35. It results in the formation of NUP98/NSD1 fusion gene. It is associated with the development of acute myeloid leukemia with t(5;11)(q35;p15); NUP98-NSD1.) https://github.com/monarch-initiative/mondo/issues/3452 AML, t(5;11)(q35;p15) acute myeloid leukemia, t(5;11)(q35;p15) MONDO:0100396 Any acute myeloid leukemia that has the chromosomal anomaly t(7;12)(q36;p13). (A chromosomal translocation involving the ETV6 gene on chromosome 12p13 and HLXB9 gene on chromosome 7q36.) https://github.com/monarch-initiative/mondo/issues/3452 AML, t(7;12)(q36;p13) acute myeloid leukemia, t(7;12)(q36;p13) MONDO:0100397 Any acute myeloid leukemia that has the chromosomal anomaly t(9;22)(q34.1;q11.2). (A translocation between chromosomes 9 and 22 that is associated with the Philadelphia chromosome.) https://github.com/monarch-initiative/mondo/issues/3452 AML, t(9;22)(q34.1;q11.2) AML, t(9;22)(q34;q11) AML, t(9;22)(q34;q11.2) acute myeloid leukemia, t(9;22)(q34.1;q11.2) MONDO:0100398 Any acute myeloid leukemia that has the chromosomal anomaly inv(3)(q21.3;q26.2). (A cytogenetic abnormality that refers to a paracentric inversion involving breakpoints on the long (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.) https://github.com/monarch-initiative/mondo/issues/3452 AML, inv(3)(q21.3;q26.2) AML, inv(3)(q21.3q26.2) AML, inv(3)(q21q26.2) acute myeloid leukemia, inv(3)(q21.3;q26.2) MONDO:0100399 Any acute myeloid leukemia that has the chromosomal anomaly t(3;3)(q21.3;q26.2). (A cytogenetic abnormality that refers to the translocation where both breakpoints are on the long arm (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.) https://github.com/monarch-initiative/mondo/issues/3452 AML, t(3;3)(q21.3;q26.2) AML, t(3;3)(q21.3q26.2) AML, t(3;3)(q21;q26.2) AML, t(3;3)(q26;q21) acute myeloid leukemia, t(3;3)(q21.3;q26.2) MONDO:0100400 Any acute myeloid leukemia that has the chromosomal anomaly t(3;12)(q23;p12.3). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 3 and the short arm (p12.3) of chromosome 12. It is associated with ETV6/MECOM (EVI1) fusions, myeloproliferative disorders, myelodysplastic syndromes and acute myelogenous leukemia.) https://github.com/monarch-initiative/mondo/issues/3452 AML, t(3;12)(q23;p12.3) acute myeloid leukemia, t(3;12)(q23;p12.3) MONDO:0100401 Any acute myeloid leukemia that has the chromosomal anomaly del(5q31-q32). (A cytogenetic abnormality that refers to deletion of chromosome bands 31-32 on the long arm of chromosome 5.) https://github.com/monarch-initiative/mondo/issues/3452 AML, 5q31-32 Deletion AML, del(5)(q31-q32) AML, del(5)(q31q32) AML, del(5q31-q32) acute myeloid leukemia, del(5q31-q32) MONDO:0100402 Any acute myeloid leukemia that has the chromosomal anomaly del(13q14-q21). (A cytogenetic abnormality that refers to deletion of chromosome bands 14-21 on the long arm of chromosome 13.) https://github.com/monarch-initiative/mondo/issues/3452 AML, 13q14-q21 Deletion AML, del(13)(q14-q21) AML, del(13)(q14q21) AML, del(13q)(13q14-21) AML, del(13q14-q21) acute myeloid leukemia, del(13q14-q21) MONDO:0100403 Any acute myeloid leukemia that has the chromosomal anomaly loss of chromosome 17p. (A cytogenetic abnormality that refers to the loss of all or part of the short arm of chromosome 17 (17p).) https://github.com/monarch-initiative/mondo/issues/3452 AML, del(17p) AML, loss of chromosome 17p acute myeloid leukemia, loss of chromosome 17p MONDO:0100404 Any acute myeloid leukemia that has the chromosomal anomaly MLL gene rearrangement. (A molecular abnormality indicating rearrangement of the MLL (KMT2A) gene.) https://github.com/monarch-initiative/mondo/issues/3452 AML, KMT2A Gene Rearrangement AML, KMT2A Rearrangement AML, Lysine (K)-Specific Methyltransferase 2A Gene Rearrangement AML, Lysine Methyltransferase 2A Gene Rearrangement AML, MLL Rearrangement AML, MLL gene rearrangement AML, Mixed Lineage Leukemia Gene Rearrangement AML, Myeloid/Lymphoid Leukemia Gene Rearrangement AML, Myeloid/Lymphoid or Mixed Lineage Leukemia Gene Rearrangement AML, Myeloid/Lymphoid or Mixed-Lineage Leukemia (Trithorax Homolog, Drosophila) Gene Rearrangement acute myeloid leukemia, MLL gene rearrangement MONDO:0100405 Any acute myeloid leukemia that has the chromosomal anomaly Non-KMT2A MLLT10 rearrangement positive. (An indication that a cytogenetic rearrangement involving MLLT10 but not involving KMT2A was detected in a sample.) https://github.com/monarch-initiative/mondo/issues/3452 AML, Non-KMT2A MLLT10 Rearrangement AML, Non-KMT2A MLLT10 rearrangement positive AML, Non-MLL MLLT10 Rearrangement AML, Non-MLL MLLT10 Rearrangement Positive acute myeloid leukemia, Non-KMT2A MLLT10 rearrangement positive MONDO:0100406 Any acute myeloid leukemia that has the chromosomal anomaly inv(16)(p13.3;q24.3). (A pericentric chromosomal inversion that involves chromosome 16. It is associated with CBFA2T3/GLIS2 fusions and pediatric acute megakaryoblastic leukemia.) https://github.com/monarch-initiative/mondo/issues/3452 AML, inv(16)(p13.3;q24.3) AML, inv(16)(p13.3q24.3) AML, inv(16)(p13;q24) AML, inv(16)(p13q24) acute myeloid leukemia, inv(16)(p13.3;q24.3) MONDO:0100407 Any acute myeloid leukemia that has the chromosomal anomaly t(11;15)(p15;q35). (A cytogenetic abnormality that refers to the translocation of chromosome 11p15 with chromosome 15q35. It results in the formation of NUP98/JARID1A fusion gene. It is associated with the development of acute myeloid leukemia with t(11;15)(p15;q35); NUP98-JARID1A.) https://github.com/monarch-initiative/mondo/issues/3452 AML, t(11;15)(p15;q35) acute myeloid leukemia, t(11;15)(p15;q35) MONDO:0100408 Any acute myeloid leukemia that has the chromosomal anomaly t(16;21)(q24;q22). (A cytogenetic abnormality that refers to the translocation of the long arm (q24) of chromosome 16 and the long arm (q22) of chromosome 22. It is associated with RUNX1/CBFA2T3 fusions, myelodysplastic syndromes and acute myeloid leukemia.) https://github.com/monarch-initiative/mondo/issues/3452 AML, t(16;21)(q24;q22) acute myeloid leukemia, t(16;21)(q24;q22) MONDO:0100409 Any acute myeloid leukemia that has the chromosomal anomaly t(3;5)(q25;q34). (A cytogenetic abnormality that refers to the translocation of the long arm (q25) of chromosome 3 and the long arm (q34) of chromosome 5. It is associated with the development of acute myeloid leukemia arising from myelodysplastic syndrome, acute myeloid leukemia with multilineage dysplasia, and acute myeloid leukemia with myelodysplasia-related changes.) https://github.com/monarch-initiative/mondo/issues/3452 AML, t(3;5)(q25;q34) acute myeloid leukemia, t(3;5)(q25;q34) MONDO:0100410 Any acute myeloid leukemia that has the chromosomal anomaly t(16;21)(p11;q22). (A chromosomal translocation involving the FUS gene on chromosome 16p11 and the ERG gene on chromosome 21q22.) https://github.com/monarch-initiative/mondo/issues/3452 AML, t(16;21)(p11.2;q22.2) AML, t(16;21)(p11;q22) acute myeloid leukemia, t(16;21)(p11;q22) MONDO:0100412 Any acute myeloid leukemia that has the chromosomal anomaly monoallelic CEBPA gene mutation. (The presence of mutations in only one allele of the CEBPA gene.) https://github.com/monarch-initiative/mondo/issues/3452 AML, C/EBP-Alpha Monoallelic Gene Mutation AML, C/EBPalpha Monoallelic Gene Mutation AML, CCAAT Enhancer Binding Protein Alpha Monoallelic Gene Mutation AML, CCAAT/Enhancer Binding Protein Alpha Monoallelic Gene Mutation AML, CCAAT/Enhancer Binding Protein, Alpha Monoallelic Gene Mutation AML, CEBP Monoallelic Gene Mutation AML, CEBPA Monoallelic Gene Mutation AML, CEBPA Monoallelic Mutation AML, moCEBPA AML, monoallelic CEBPA gene mutation acute myeloid leukemia, monoallelic CEBPA gene mutation MONDO:0100413 Any acute myeloid leukemia that has the chromosomal anomaly biallelic CEBPA gene mutation. (The presence of mutations in both alleles of the CEBPA gene.) https://github.com/monarch-initiative/mondo/issues/3452 AML, C/EBP-Alpha Biallelic Gene Mutation AML, C/EBPalpha Biallelic Gene Mutation AML, CCAAT Enhancer Binding Protein Alpha Biallelic Gene Mutation AML, CCAAT/Enhancer Binding Protein Alpha Biallelic Gene Mutation AML, CCAAT/Enhancer Binding Protein, Alpha Biallelic Gene Mutation AML, CEBP Biallelic Gene Mutation AML, CEBPA Biallelic Gene Mutation AML, CEBPA Biallelic Mutation AML, biCEBPA AML, biallelic CEBPA gene mutation acute myeloid leukemia, biallelic CEBPA gene mutation MONDO:0100414 Any acute myeloid leukemia that has the chromosomal anomaly CEBPA gene mutation. (Mutation of the CEBPA gene encoding CCAAT/enhancer binding protein alpha. It is seen in acute myeloid leukemias usually associated with a normal karyotype.) https://github.com/monarch-initiative/mondo/issues/3452 AML, C/EBP-Alpha Gene Mutation AML, C/EBPalpha Mutation AML, CCAAT Enhancer Binding Protein Alpha Gene Mutation AML, CCAAT/Enhancer Binding Protein, Alpha Gene Mutation AML, CEBP Gene Mutation AML, CEBPA Mutation AML, CEBPA gene mutation acute myeloid leukemia, CEBPA gene mutation MONDO:0100415 Any acute myeloid leukemia that has the chromosomal anomaly FLT3 internal tandem duplication. (A genetic abnormality that arises from duplications of the juxtamembrane portion of the gene and results in constitutive activation of the FLT3 receptor tyrosine kinase protein in early hematopoietic progenitor cells. It is associated with acute myelogenous leukemia where it appears to correlate with a poor prognosis.) https://github.com/monarch-initiative/mondo/issues/3452 AML, Activating FLT3-ITD Gene Mutation AML, Activating FLT3-ITD Mutation AML, FLT3 ITD AML, FLT3 internal tandem duplication AML, FLT3-ITD AML, FLT3-ITD Activating Mutation AML, FLT3-ITD Mutation AML, FLT3/ITD Mutation acute myeloid leukemia, FLT3 internal tandem duplication MONDO:0100416 Any acute myeloid leukemia that has the chromosomal anomaly FLT3 tyrosine kinase domain point mutation. (Single nucleotide mutations in the tyrosine kinase domain encoded by the human FLT3 gene that are associated with acute myeloid leukemia and poor prognosis.) https://github.com/monarch-initiative/mondo/issues/3452 AML, FLT3 tyrosine kinase domain point mutation AML, FLT3-TKD Point Mutation AML, FLT3/TKD Point Mutation acute myeloid leukemia, FLT3 tyrosine kinase domain point mutation MONDO:0100417 Any acute myeloid leukemia that has the chromosomal anomaly WT1 gene mutation. (A change in the nucleotide sequence of the WT1 gene.) https://github.com/monarch-initiative/mondo/issues/3452 AML, GUD Gene Mutation AML, WAGR Gene Mutation AML, WIT-2 Gene Mutation AML, WT1 gene mutation AML, WT1 mutation AML, WT33 Gene Mutation AML, Wilms Tumor 1 Gene Mutation acute myeloid leukemia, WT1 gene mutation MONDO:0100418 Any acute myeloid leukemia that has the chromosomal anomaly KIT exon 17 mutation. (A molecular genetic abnormality indicating the presence of a mutation in exon 17 of the KIT gene located within 4q11-q12.) https://github.com/monarch-initiative/mondo/issues/3452 AML, CD117 Exon 17 Mutation AML, KIT Proto-Oncogene Tyrosine Protein Kinase Gene Exon 17 Mutation AML, KIT exon 17 mutation AML, c-KIT Exon 17 Mutation AML, v-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene Exon 17 Mutation acute myeloid leukemia, KIT exon 17 mutation MONDO:0100419 Any acute myeloid leukemia that has the chromosomal anomaly KIT exon 8 mutation. (A molecular genetic abnormality indicating the presence of a mutation in exon 8 of the KIT gene located within 4q11-q12.) https://github.com/monarch-initiative/mondo/issues/3452 AML, CD117 Exon 8 Mutation AML, KIT Proto-Oncogene Tyrosine Protein Kinase Gene Exon 8 Mutation AML, KIT exon 8 mutation AML, c-KIT Exon 8 Mutation AML, v-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene Exon 8 Mutation acute myeloid leukemia, KIT exon 8 mutation MONDO:0100420 Any acute myeloid leukemia that has the chromosomal anomaly KIT gene mutation. (A molecular genetic abnormality that refers to mutation of the c-kit (CD117) proto-oncogene. It is associated with the development of gastrointestinal stromal tumor and gastrointestinal autonomic nerve tumor. It has also been described in acute myeloid leukemias, dysgerminomas, and seminomas.) https://github.com/monarch-initiative/mondo/issues/3452 AML, C-KIT Mutation AML, CD117 Gene Mutation AML, CD117 Mutation AML, KIT Proto-Oncogene Tyrosine Protein Kinase Gene Mutation AML, KIT gene mutation AML, V-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene Mutation AML, c-KIT Gene Mutation acute myeloid leukemia, KIT gene mutation MONDO:0100421 Any acute myeloid leukemia that has the chromosomal anomaly GATA1 gene mutation. (A change in the nucleotide sequence of the GATA1 gene.) https://github.com/monarch-initiative/mondo/issues/3452 AML, ERYF1 Gene Mutation AML, GATA Binding Protein 1 Gene Mutation AML, GATA-1 Gene Mutation AML, GATA1 Mutation AML, GATA1 gene mutation AML, GF-1 Gene Mutation AML, GF1 Gene Mutation AML, NF-E1 Gene Mutation AML, NFE1 Gene Mutation acute myeloid leukemia, GATA1 gene mutation MONDO:0100422 Any acute myeloid leukemia that has the chromosomal anomaly RUNX1 gene mutation. (A change in the nucleotide sequence of the RUNX1 gene.) https://github.com/monarch-initiative/mondo/issues/3452 AML, AML1 Gene Mutation AML, AML1 Mutation AML, AMLCR1 Gene Mutation AML, Acute Myeloid Leukemia 1 Gene Mutation AML, CBFA2 Gene Mutation AML, CBFalpha2 Mutation AML, RUNX1 gene mutation AML, Runt-Related Transcription Factor 1 Gene Mutation acute myeloid leukemia, RUNX1 gene mutation MONDO:0100423 Any acute myeloid leukemia that has the chromosomal anomaly PTPN11 gene mutation. (Mutation of the protein tyrosine phosphatase, non-receptor type 11 gene. It is seen in cases of juvenile myelomonocytic leukemia.) https://github.com/monarch-initiative/mondo/issues/3452 AML, BPTP3 Gene Mutation AML, PTP-1D Gene Mutation AML, PTP2C Gene Mutation AML, PTPN11 gene mutation AML, Protein Tyrosine Phosphatase Non-Receptor Type 11 Gene Mutation AML, Protein Tyrosine Phosphatase, Non-Receptor Type 11 Gene Mutation AML, SH-PTP2 Gene Mutation AML, SHP-2 Gene Mutation AML, SHP2 Gene Mutation acute myeloid leukemia, PTPN11 gene mutation MONDO:0100424 Any acute myeloid leukemia that has the chromosomal anomaly NRAS gene mutation. (A change in the structure of the NRAS gene.) https://github.com/monarch-initiative/mondo/issues/3452 AML, N-RAS Gene Mutation AML, NRAS gene mutation AML, Neuroblastoma RAS Viral Oncogene Homolog Gene Mutation acute myeloid leukemia, NRAS gene mutation MONDO:0100425 Any acute myeloid leukemia that has the chromosomal anomaly KRAS gene mutation. (A change in the nucleotide sequence of the KRAS gene.) https://github.com/monarch-initiative/mondo/issues/3452 AML, KRAS Gene Mutation AML, KRAS gene mutation AML, KRAS-2 Gene Mutation AML, KRAS2 Gene Mutation AML, c-K-ras Gene Mutation AML, v-Ki-ras2 Kirsten Rat Sarcoma Viral Oncogene Homolog Gene Mutation acute myeloid leukemia, KRAS gene mutation MONDO:0100426 A characteristic of a diseae which results from diagnostic and therapeutic procedures undertaken on a patient. https://orcid.org/0000-0001-5208-3432 iatrogenic MONDO:0100427 A characteristic of a diseae in which it does not result from diagnostic and therapeutic procedures undertaken on a patient. https://orcid.org/0000-0001-5208-3432 non-iatrogenic MONDO:0100428 A progressive bulbar palsy of childhood that occurs during childhood. https://github.com/monarch-initiative/mondo/issues/127 https://orcid.org/0000-0001-5208-3432 Fazio-Londe disease progressive bulbar palsy of childhood MONDO:0100429 A cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery. https://github.com/monarch-initiative/mondo/issues/3897 https://orcid.org/0000-0001-5208-3432 ICP gravidic intrahepatic cholestasis intrahepatic cholestasis of pregnancy pregnancy related cholestasis pregnancy-related cholestasis recurrent intrahepatic cholestasis of pregnancy RICP cholestasis, intrahepatic of pregnancy familial intrahepatic cholestasis of pregnancy familial recurrent intrahepatic cholestasis of pregnancy intrahepatic cholestasis of pregnancy MONDO:0100430 A liver disease characterized by the presence of excessive fibrous connective tissue in the liver. https://orcid.org/0000-0001-5208-3432 hepatic fibrosis (disease) liver fibrosis (disease) fibrotic liver disease MONDO:0100431 A migraine disorder characterized by episodes that occur in the absence of preceding focal neurological symptoms. https://github.com/monarch-initiative/mondo/issues/3984 https://orcid.org/0000-0001-5208-3432 common migraine migraine without aura MONDO:0100432 Any immunodeficiency in which the cause of the disease is a mutation in the FNIP1 gene. Disruption of Folliculin Interacting Protein 1 alters the essential metabolic regulators AMPK and mTOR, resulting in profound B-cell deficiency, hypertrophic cardiomyopathy, and pre-excitation syndrome. https://github.com/monarch-initiative/mondo/issues/4021 https://orcid.org/0000-0001-5208-3432 FNIP1 deficiency absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy syndrome immunodeficiency with cardiomyopathy and pre-excitation syndrome FNIP1-associated syndrome MONDO:0100433 A syndrome associated with developmental delay, mild intellectual disability, microcephaly, and thrombocytopenia with platelet anisotropy and enlarged platelets. ACTB-AST ACTB-associated syndromic thrombocytopenia MONDO:0100434 A pathological condition resulting from chronic exposure to hypoxia at high altitude. The syndrome is characterized by an excessive number of red blood cells associated with a high blood hemoglobin concentration ([Hb]), hypoxemia, and, in some cases, pulmonary hypertension. Clinical signs include headache, fatigue, sleep disturbances, dyspnea, digestive complaints, and high risk of thrombotic events. http://orcid.org/0000-0001-5208-3432 Monge's disease chronic mountain sickness MONDO:0100435 https://github.com/monarch-initiative/mondo/issues/4948 https://orcid.org/0000-0001-5208-3432 SJA syndrome SJS1 Schwartz-Jampel syndrome type 1 Chondrodystrophic myotonia Schwartz-Jampel syndrome 1 Schwartz-Jampel syndrome, type 1 Schwartz-Jampel syndrome type 1 MONDO:0100436 Any cataract in which the cause of the disease is a mutation in the CRYGC gene. https://github.com/monarch-initiative/mondo/issues/3904 https://orcid.org/0000-0001-5208-3432 CTRCT2 cataract 2 multiple types cataract 2 multiple types with or without microcornea cataract 2, multiple types, with or without microcornea cataract, Coppock-like cataract 2, multiple types MONDO:0100437 A retinopathy caused by a variant in the X-linked gene, RPGR. https://github.com/monarch-initiative/mondo/issues/3898 https://orcid.org/0000-0001-5208-3432 RPGR retinopathy COD1 CORDX1 RP3 RPGR retinitis pigmentosa X-linked cone dystrophy 1 X-linked cone-rod dystrophy 1 X-linked cone-rod dystrophy type 1 choroidoretinal degeneration with retinal reflex in heterozygous women cone dystrophy 1, X-linked cone dystrophy X-linked 1 cone-rod degeneration, X-linked cone-rod dystrophy X-linked 1 cone-rod dystrophy, X-linked, 1 cone-rod dystrophy, X-linked, type 1 macular degeneration, X-linked atrophic retinal ciliopathy due to mutation in the RPGR gene retinitis pigmentosa 15 retinitis pigmentosa 3 retinitis pigmentosa caused by mutation in RPGR retinitis pigmentosa type 3 RPGR-related retinopathy MONDO:0100438 A retinopathy caused by biallelic variants in the AIPL1 gene. https://github.com/monarch-initiative/mondo/issues/3898 https://orcid.org/0000-0001-5208-3432 AIPL1 retinopathy AIPL1 Leber congenital amaurosis LCA4 Leber congenital amaurosis 4 Leber congenital amaurosis caused by mutation in AIPL1 Leber congenital amaurosis type 4 amaurosis congenita of Leber, type 4 cone-rod dystrophy cone-rod dystrophy, AIPL1-related retinitis pigmentosa, juvenile retinitis pigmentosa, juvenile, AIPL1-related AIPL1-related retinopathy MONDO:0100439 Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK in liver, but normal activity in erythrocytes. https://github.com/monarch-initiative/mondo/issues/2128 https://orcid.org/0000-0001-5208-3432 GSD IXa2 GSD9A2 liver glycogenosis, X-linked, type 2 glycogen storage disease IXa2 MONDO:0100440 An inherited susceptibility or predisposition to developing Asperger sydrome. http://orcid.org/0000-0001-5208-3432 Asperger syndrome, susceptibility to MONDO:0100441 A retinopathy caused by a heterozygous gain of function or dominant-negative variant or in the GUCY2D gene. https://github.com/monarch-initiative/mondo/issues/3898 dominant GUCY2D retinopathy CACD1 CORD6 GUCY2D central areolar choroidal dystrophy GUCY2D cone-rod dystrophy RCD2 central areolar choroidal dystrophy caused by mutation in GUCY2D choroidal dystrophy, central areolar choroidal dystrophy, central areolar, 1 choroidal sclerosis cone-rod dystrophy 6 cone-rod dystrophy caused by mutation in GUCY2D cone-rod dystrophy type 6 retinal cone dystrophy 2 GUCY2D-related dominant retinopathy MONDO:0100442 A retinopathy caused by variants in the X-linked gene, RP2. https://github.com/monarch-initiative/mondo/issues/3898 RP2 retinopathy RP2 RP2 retinitis pigmentosa retinitis pigmentosa 2 retinitis pigmentosa caused by mutation in RP2 retinitis pigmentosa type 2 RP2-related retinopathy MONDO:0100443 A retinopathy caused by bialleleic variants in the RDH5 gene, often involving flecks in the retina. https://github.com/monarch-initiative/mondo/issues/3898 RDH5 retinopathy fundus albipunctatus pigmentary retinal dystrophy retinitis punctata albescens RDH5-related retinopathy MONDO:0100444 A retinopathy caused by bialleleic variants in the RLBP1 gene, often involving flecks in the retina. https://github.com/monarch-initiative/mondo/issues/3898 RLBP1 retinopathy Bothnia retinal dystrophy NFRCD Newfoundland ROD-cone dystrophy Newfoundland rod-cone dystrophy RLBP1 cone-rod dystrophy Vasterbotten dystrophy Västerbotten dystrophy cone-rod dystrophy caused by mutation in RLBP1 fundus albipunctatus pigmentary retinal dystrophy retinitis punctata albescens RLBP1-related retinopathy MONDO:0100445 A retinopathy caused by biallelic variants in the LCA5 gene. https://github.com/monarch-initiative/mondo/issues/3898 LCA5 retinopathy LCA5 LCA5 Leber congenital amaurosis Leber congenital amaurosis 5 Leber congenital amaurosis caused by mutation in LCA5 Leber congenital amaurosis type 5 amaurosis congenita of Leber, type 5 LCA5-related retinopathy MONDO:0100446 A retinopathy caused by biallelic variants in the CNGB3 gene. https://github.com/monarch-initiative/mondo/issues/3898 CNGB3 retinopathy ACHM1 ACHM1 (formerly) ACHM1, formerly ACHM3 CNGB3 achromatopsia RMCH1 RMCH1 (formerly) Rod monochromacy 1 (formerly) Rod monochromatism 1 (formerly) achromatopsia 3 achromatopsia caused by mutation in CNGB3 achromatopsia type 3 achromatopsia with myopia rod monochromacy 1 rod monochromacy 1, formerly rod monochromatism 1 rod monochromatism 1, formerly total colorblindness with myopia CNGB3-related retinopathy MONDO:0100447 A retinopathy caused by biallelic variants in the AFT6 gene. https://github.com/monarch-initiative/mondo/issues/3898 ATF6 retinopathy ACHM7 ATF6 achromatopsia achromatopsia 7 achromatopsia caused by mutation in ATF6 achromatopsia type 7 ATF6-related retinopathy MONDO:0100448 A retinopathy caused by biallelic variants in the RAB28 gene. https://github.com/monarch-initiative/mondo/issues/3898 RAB28 retinopathy CORD18 RAB28 cone-rod dystrophy cone-rod dystrophy 18 cone-rod dystrophy caused by mutation in RAB28 cone-rod dystrophy type 18 RAB28-related retinopathy MONDO:0100449 A disorder characterized by retinopathy with ataxia in most patients, caused by biallelic variants in the FLVCR1 gene. https://github.com/monarch-initiative/mondo/issues/3898 FLVCR1 retinopathy with or without ataxia AXPC1 PCARP ataxia, posterior column, with retinitis pigmentosa autosomal recessive posterior column ataxia and retinitis pigmentosa posterior column ataxia with retinitis pigmentosa posterior column ataxia-retinitis pigmentosa syndrome FLVCR1-related retinopathy with or without ataxia MONDO:0100450 An autosomal dominant vitreoretinopathy caused by variants in the CAPN5 gene. Additional features, such as developmental delay and hypotonia, have been reported in some patients. https://github.com/monarch-initiative/mondo/issues/3898 https://github.com/monarch-initiative/mondo/issues/4259 proliferative vitreoretinopathy ADNIV CAPN5 vitreoretinopathy VRNI autosomal dominant neovascular inflammatory vitreoretinopathy retinitis proliferans vitreoretinopathy, neovascular inflammatory vitreoretinopathy, neovascular inflammatory, autosomal dominant CAPN5-related vitreoretinopathy MONDO:0100451 A ciliopathy caused by biallelic variants in the CEP290 gene. https://github.com/monarch-initiative/mondo/issues/3898 CEP290 ciliopathy BBS14 Bardet-Biedl syndrome 14 Bardet-Biedl syndrome type 14 CEP290 Joubert syndrome CEP290 Leber congenital amaurosis CEP290 Meckel syndrome CEP290 Senior-Loken syndrome JBTS5 Joubert syndrome 5 Joubert syndrome caused by mutation in CEP290 Joubert syndrome type 5 LCA10 Leber congenital amaurosis 10 Leber congenital amaurosis caused by mutation in CEP290 Leber congenital amaurosis type 10 MKS4 Meckel syndrome 4 Meckel syndrome caused by mutation in CEP290 Meckel syndrome, type 4 Meckel-Gruber syndrome, type 4 Meckel-like Cerebrorenodigital syndrome SENIOR-Loken syndrome 6 SLSN6 Senior-Loken syndrome 6 Senior-Loken syndrome caused by mutation in CEP290 Senior-Loken syndrome type 6 amaurosis congenita of Leber, type 10 CEP290-related ciliopathy MONDO:0100452 A retinopathy caused by a heterozygous gain of function variant in the RPE65 gene. https://github.com/monarch-initiative/mondo/issues/3898 https://orcid.org/0000-0001-5208-3432 RP87 dominant RPE65 retinopathy retinitis pigmentosa 87 with choroidal involvement RPE65-related dominant retinopathy MONDO:0100453 A retinopathy caused by biallelic variants in the GUCY2D gene. https://orcid.org/0000-0001-5208-3432 recessive GUCY2D retinopathy CORD6 CRB GUCY2D Leber congenital amaurosis GUCY2D cone-rod dystrophy LCA LCA1 Leber congenital amaurosis 1 Leber congenital amaurosis caused by mutation in GUCY2D Leber congenital amaurosis type 1 RCD2 amaurosis congenita of Leber 1 amaurosis congenita of Leber I amaurosis congenita of Leber, type 1 cone-rod dystrophy 6 cone-rod dystrophy caused by mutation in GUCY2D cone-rod dystrophy type 6 night blindness, congenital stationary, type 1I retinal blindness, congenital retinal cone dystrophy 2 GUCY2D-related recessive retinopathy MONDO:0100454 Any inherited retinal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene. https://github.com/monarch-initiative/mondo/issues/3898 https://orcid.org/0000-0001-5208-3432 retinopathy caused by mutation in GUCY2D GUCY2D retinopathy MONDO:0100455 A complex neurodevelopmental disorder characterized by a neonatal onset of recurrent seizures, an abnormal neonatal electroencephalographic background with multifocal epileptiform discharges, excessive discontinuity, and/or burst-suppression patterns, and encephalopathy. Seizures may be pharmacoresistant or responsive. Developmental delays persist but vary in severity. In some individuals, subsequent evolution to other epileptic encephalopathy syndromes (e.g. West syndrome) may occur. https://github.com/monarch-initiative/mondo/issues/4058 https://orcid.org/0000-0001-5208-3432 neonatal-onset developmental and epileptic encephalopathy MONDO:0100456 A disorder characterized onset at birth of profound encephalopathy with hypotonia, Respiratory insufficiency central hypoventilation, a persistent suppression burst pattern of EEG background, and recurrent bouts of myoclonus that are not accompanied by epileptic discharges on electroencephalography. Evolution to pharmacoresistant seizures is common and continued profound global developmental delay. https://github.com/monarch-initiative/mondo/issues/4059 https://orcid.org/0000-0001-5208-3432 neonatal encephalopathy with non-epileptic myoclonus MONDO:0100457 An instance of achalsia that is caused by an inherited genomic modification in an individual. https://github.com/monarch-initiative/mondo/issues/4055 https://orcid.org/0000-0001-5208-3432 achalasia, familial esophageal achalasia, familial esophageal MONDO:0100458 Any syndrome in which the cause of the disease is a mutation in the MECOM gene. MECOM-associated syndrome has a variable phenotypic pattern, ranging from isolated radioulnar synostosis with no or mild hematological involvement to severe bone marrow failure without obvious skeletal abnormalities. The clinical picture can also include clinodactyly, cardiac and renal malformations, B-cell deficiency, amegakaryocytic thrombocytopenia, and presenile hearing loss. https://github.com/monarch-initiative/mondo/issues/3952 https://orcid.org/0000-0001-5208-3432 MECOM-associated syndrome MONDO:0100459 A male infertility disease characterized by the absence of any measurable level of sperm in semen. http://orcid.org/0000-0001-5208-3432 azoospermia MONDO:0100460 An inherited susceptibility or predisposition to developing nicotine dependence. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4809 cigarette habituation, susceptibility to nicotine addiction, protection from nicotine addiction, susceptibility to nicotine dependence, protection against nicotine dependence, susceptibility to smoking habit, susceptibility to susceptibility to tobacco addiction tobacco addiction, susceptibility to tobacco addiction, susceptibility to MONDO:0100462 A rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence. https://github.com/monarch-initiative/mondo/issues/4167 https://github.com/monarch-initiative/mondo/issues/4948 https://orcid.org/0000-0001-5208-3432 OD SSOAOD osteochondritis dissecans and short stature osteochondritis dissecans, short stature, and early-onset osteoarthritis short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans MONDO:0100463 An autosomal recessive inborn disorder of cobalamin metabolism caused by biallelic variants in MMADHC. Depending on the type and location of variants in MMADHC, patients may present with methylmalonic aciduria, homocystinuria, or both. MMADHC has been reported to result in the cblD complementation group of cobalamin disorders. https://github.com/monarch-initiative/mondo/issues/4905 http://orcid.org/0000-0001-5208-3432 methylmalonic aciduria and/or homocystinuria, cblD type MONDO:0100464 An autosomal recessive lysosomal disease caused by biallelic loss of function variants in the SMPD1 gene. Clinical symptoms in affected individuals occur along a continuum. At the severe end of the spectrum are individuals historically diagnosed with Niemann-Pick disease type A (the neurovisceral form), which is characterized by hepatosplenomegaly with rapid neurological deterioration leading to death in the first few years of life. At the milder end of the spectrum are individuals historically diagnosed with Niemann-Pick disease type B, a later-onset, chronic visceral form, characterized by progressive visceral organ symptoms including hepatosplenomegaly and pulmonary insufficiency, and survival into adulthood. In addition, some affected individuals present with an intermediate phenotype, Niemann-Pick disease type A/B. https://github.com/monarch-initiative/mondo/issues/4984 http://orcid.org/0000-0001-5208-3432 acid sphingomyelinase deficiency MONDO:0100465 A complex neurodevelopmental disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy), in addition to one or more structural or functional anomaly(ies) that develops prenatally. https://github.com/monarch-initiative/mondo/issues/4938 http://orcid.org/0000-0001-5208-3432 complex neurodevelopmental disorder with or without congenital anomalies MONDO:0100466 A patterned dystrophy of the retinal pigment epithelium characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age. https://github.com/monarch-initiative/mondo/issues/1819 https://orcid.org/0000-0001-5208-3432 butterfly-shaped pattern dystrophy butterfly-shaped pigment dystrophy butterfly-shaped pigmentary macular dystrophy butterfly-shaped pigment dystrophy MONDO:0100467 https://orcid.org/0000-0001-5208-3432 toxemia of pregnancy PEE1 PREECLAMPSIA/eclampsia 1 PREG1 hemolysis, elevated liver enzymes, and low platelet count hypertension, pregnancy-induced preeclampsia/eclampsia 1 MONDO:0100468 A congenital myopathy in which a family of 6 siblings presented in infancy the picture of 'amyotonia congenita' and later in life a nonprogressive myopathy. https://github.com/monarch-initiative/mondo/issues/2575 https://orcid.org/0000-0001-5208-3432 Batten-Turner congenital myopathy MONDO:0100469 X-linked form of anosmia, isolated congenital. https://github.com/monarch-initiative/mondo/issues/3834 https://orcid.org/0000-0001-5208-3432 anosmia, isolated congenital, X-linked MONDO:0100470 Coughing, wheezing, or shortness of breath that is triggered by allergens, infection, or other irritants. https://orcid.org/0000-0001-5208-3432 hyperactive airway disease reactive airway disease (AQ) reactive airway disease MONDO:0100471 Abnormally low level of 25-hydroxyvitamin D in the blood. https://orcid.org/0000-0001-5208-3432 DEFIC VITAMIN D VITAMIN D DEFIC avitaminosis D avitaminosis D, NOS deficiencies, vitamin D deficiency of vitamin D (disorder) deficiency, vitamin D vitamin D deficiencies vitamin D deficiency (disorder) vitamin D deficiency, NOS vitamin D insufficiency vitamin D deficiency MONDO:0100473 An inherited metabolic disease that has its basis in the disruption of peptide and/or amine metabolic process. https://github.com/monarch-initiative/mondo/issues/4985 http://orcid.org/0000-0001-5208-3432 disorder of peptide and amine metabolism MONDO:0100474 An instance of ichthyosis vulgaris in which the disease presentation is mild in severity. Heterozygote FLG mutation carriers often have mild manifestations. https://github.com/monarch-initiative/mondo/issues/2360 https://orcid.org/0000-0001-5208-3432 mild ichthyosis vulgaris MONDO:0100475 An instance of ichthyosis vulgaris in which the disease presentation is severe in severity. Homozygous FLG mutation carriers often have more severe manifestations. https://github.com/monarch-initiative/mondo/issues/2360 https://orcid.org/0000-0001-5208-3432 severe ichthyosis vulgaris MONDO:0100476 An inherited susceptibility or predisposition to developing aquired partial lipodystrophy. https://orcid.org/0000-0001-5208-3432 APLD, susceptibility to barraquer-simons syndrome lipodystrophy, cephalothoracic type lipodystrophy, partial, acquired, susceptibility lipodystrophy, partial, progressive lipodystrophy, partial, acquired, susceptibility to MONDO:0100477 An inherited metabolic disease that has its basis in the disruption of methylamine metabolic process. https://github.com/monarch-initiative/mondo/issues/4985 http://orcid.org/0000-0001-5208-3432 disorder of methylamine metabolism MONDO:0100478 A brain disorder caused by pathogenic variants in NFIA that is characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures. https://github.com/monarch-initiative/mondo/issues/5361 https://github.com/monarch-initiative/mondo/issues/5521 http://orcid.org/0000-0001-5208-3432 NFIA is one of the genes involved in the 1p31p32 microdeletion syndrome, which presents with very similar features. brain malformations with or without urinary tract defects MONDO:0100479 A form of drug-resistant tuberculosis that is resisant to rifampicin with or without resistance to other antitubercular medications. https://orcid.org/0000-0001-5208-3432 RR-TB rifampicin-resistant TB rifampicin-resistant tuberculosis MONDO:0100480 Diminished production of adrenocortical hormones due to autoimmune destruction of the adrenal glands. https://orcid.org/0000-0001-5208-3432 autoimmune Addison's disease autoimmune adrenalitis autoimmune primary adrenal insufficiency MONDO:0100481 Tuberculosis caused by primary infection of or reactivation of latent Mycobacterium tuberculosis. Active tuberculosis characterized by clinical manifestation and active symptoms compatible with tuberculosis, and is distinct from latent tuberculosis infection that occurs without signs or symptoms of active disease. https://orcid.org/0000-0001-5208-3432 active TB active tuberculosis MONDO:0100482 A type of drug-resistant tuberculosis that is resistant to any fluoroquinolone, and at least one of three second-line injectable drugs (capreomycin, kanamycin, and amikacin), in addition to resistance to rifampicin and isoniazid. https://orcid.org/0000-0001-5208-3432 XDR-TB extensively drug-resistant tuberculosis MONDO:0100483 A type of drug-resistant tuberculosis that is resistant to all first- and second-line antitubercular drugs tested (isoniazid, rifampicin, streptomycin, ethambutol, pyrazinamide, ethionamide, para-aminosalicylic acid, cycloserine, ofloxacin, amikacin, ciprofloxacin, capreomycin, kanamycin). https://orcid.org/0000-0001-5208-3432 TDR-TB totally drug-resistant tuberculosis MONDO:0100484 A vitreoretinopathy caused by variants in the TSPAN12 gene. https://orcid.org/0000-0001-5208-3432 TSPAN12 exudative vitreoretinopathy exudative vitreoretinopathy 5 exudative vitreoretinopathy caused by mutation in TSPAN12 TSPAN12-related vitreoretinopathy MONDO:0100485 Any neurodevelopmental disorder in which the cause of the disease is a mutation in the KCNH1 gene. Variants in KCNH1 cause significant neurodevelopmental disabilities that lie along a phenotypic spectrum ranging from non-syndromic to syndromic. The most common phenotypes associated with variants in KCNH1 include intellectual disability, seizures, hypotonia, absence or hypoplasia of nails, and gingival enlargement. Hypoplastic terminal phalanges of fingers and toes, proximal placement and long thumb, and long toes present less frequently. https://orcid.org/0000-0001-5208-3432 KCNH1 related disorder KCNH1 associated disorder MONDO:0100486 Acne that occurs in an adult. https://github.com/monarch-initiative/mondo/issues/4090 https://orcid.org/0000-0001-5208-3432 acne, adult adult acne MONDO:0100487 A platelet disorder in which the cause of the disease is a variant in the TPM4 gene. https://github.com/monarch-initiative/mondo/issues/4541 https://orcid.org/0000-0001-5208-3432 TPM4-related platelet dysfunction with or without thrombocytopenia TPM4-related platelet disorder MONDO:0100488 Germline pathogenic or likely pathogenic variants in the CDH1 gene predispose to hereditary diffuse gastric cancer, a cancer susceptibility syndrome inherited in an autosomal dominant pattern, initially characterized by the increased risk for diffuse gastric cancer (DGC) but subsequently well documented to be associated with lobular breast cancer (LBC) in women. https://github.com/monarch-initiative/mondo/issues/4549 https://github.com/monarch-initiative/mondo/issues/5720 https://orcid.org/0000-0001-5208-3432 DGLBC HDGC LBC diffuse gastric and lobular breast cancer syndrome gastric cancer, familial diffuse breast cancer, lobular gastric cancer, hereditary diffuse CDH1-related diffuse gastric and lobular breast cancer MONDO:0100489 https://orcid.org/0000-0001-5208-3432 Graves disease, susceptibility to, 1 Graves disease, susceptibility to, 1 MONDO:0100490 https://github.com/monarch-initiative/mondo/issues/4449 https://orcid.org/0000-0001-5208-3432 BNAH1 breasts and/or nipples, aplasia or hypoplasia of, 1 amastia amazia athelia breasts and/or nipples, aplasia or hypoplasia of, 1 MONDO:0100491 A rare and extreme form of psoriasis characterized by the appearance of sterile pustules which can take many patterns. All the main pathological features of the disease are accentuated. Generalized pustular psoriasis is clinically heterogeneous in its age at onset, precipitants, severity, and natural history. Many overlapping clinical entities are recognized. There is a relationship between these entities and plaque psoriasis, as some individuals may have episodes of plaque psoriasis preceding or following the generalized pustular psoriasis, but in others generalized pustular psoriasis occurs as the sole phenotype without plaque psoriasis at any time. https://github.com/monarch-initiative/mondo/issues/4496 https://orcid.org/0000-0001-5208-3432 generalized pustular psoriasis MONDO:0100492 A genetic syndrome which occurs in females. It is caused by the inheritance of only one complete X chromosome (45, X). Clinical signs of the symmetrical form are identical to those of Turner syndrome and include bilateral webbing of the neck and edema of the extremities. Clinical characteristics include decreased stature and under-developed sexual organs. Patients usually have a normal life expectancy. https://github.com/monarch-initiative/mondo/issues/5089 http://orcid.org/0000-0001-5208-3432 Bonnevie-Ullrich syndrome Bonnevie-Ulrich syndrome Bonnevie-Ullrich syndrome MONDO:0100493 Autosomal recessive form of TTN-related myopathy. http://orcid.org/0000-0001-5208-3432 TTN-related myopathy, autosomal recessive autosomal recessive titinopathy MONDO:0100494 Autosomal dominant form of TTN-related myopathy. http://orcid.org/0000-0001-5208-3432 TTN-related myopathy, autosomal dominant autosomal dominant titinopathy MONDO:0100495 A rare myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs. Described as a more severe tibial muscular dystrophy phenotype, distal titinopathy is associated with earlier onset and progression to include soleus muscle and proximal muscles. http://orcid.org/0000-0001-5208-3432 distal titinopathy autosomal recessive distal titinopathy MONDO:0100496 A rare inherited muscular dystrophy characterized by the coexistence of limb-girdle weakness and early-onset diffuse joint contractures without cardiomyopathy. http://orcid.org/0000-0001-5208-3432 Emery-Dreifuss-like muscular dystrophy MONDO:0100497 A prenatal/infant-onset muscle disorder characterized by limb contractures, muscle weakness (often with significant axial involvement), long bone fractures, and/or cardiac abnormalities. http://orcid.org/0000-0001-5208-3432 titinopathy with congenital contractures MONDO:0100498 Any inherited porphyria in which the cause of the disease is monoallelic or biallelic variants in the UROD gene. https://github.com/monarch-initiative/mondo/issues/5128 http://orcid.org/0000-0001-5208-3432 UROD-related inherited porphyria MONDO:0100500 A neurodevelopmental disorder that is caused by genetic modifications where those modifications are inherited from a parent's genome. https://github.com/monarch-initiative/mondo/issues/4789 http://orcid.org/0000-0001-5208-3432 Mendelian neurodevelopmental disorder MONDO:0100501 A very rare anomaly (1 in 14,000 to 42,000 pregnancies; 1 in 7500 fetuses from 10 to 14 weeks of gestation) characterized by a complex anomaly of the anterior abdominal wall, severe kyphoscoliosis, rudimentary umbilical cord, and anatomical defects of the pelvis and lower limbs. https://github.com/monarch-initiative/mondo/issues/5422 http://orcid.org/0000-0001-5208-3432 BSA body stalk anomaly body stalk complex LBWC limb body wall complex body-stalk anomaly MONDO:0100502 Biallelic constitutional/germline loss-of-function NTHL1 variants confer predisposition to tumor formation demonstrating ‘COSMIC Signature 30’ mutation profile. Tumors have been reported at multiple primary sites; in particular adenomatous polyposis of colon (~10-50 polyps), colorectal cancer, and breast cancer. NTHL1-deficiency tumor predisposition syndrome MONDO:0100503 A neurodevelopmental disorder in which the cause of the disease is a mutation in the DPH5 gene, which is characterized by craniofacial dysmorphology, profound neurodevelopmental delay, multisystem abnormalities, and miscarriages. https://github.com/monarch-initiative/mondo/issues/5178 http://orcid.org/0000-0001-5208-3432 DPH5-related diphthamide-deficiency syndrome MONDO:0100504 A fungal infectious disease that involves the toenail. http://orcid.org/0000-0001-5208-3432 fungal infection of the toenail MONDO:0100505 Dermatitis caused by an allergic reaction to ingested food. http://orcid.org/0000-0001-5208-3432 dermatitis due to food taken internally food dermatitis MONDO:0100506 An autosomal recessive, multisystem condition caused by pathogenic variants of the ERCC6 gene, encoding the DNA excision repair protein, ERCC-6. Cockayne spectrum with or without cerebrooculofacioskeletal syndrome is characterized by growth failure at birth, with little or no postnatal neurologic development in addition to congenital cataracts or other structural anomalies of the eye, early postnatal contractures of the spine (kyphosis, scoliosis) and joints, and death usually occurring by age five years. This term lumps Cockayne syndrome type 2/B (CSB), cerebrooculofacioskeletal syndrome 1 (COFS syndrome), and De Sanctis-Cacchione syndrome into a spectrum of disease. https://github.com/monarch-initiative/mondo/issues/5200 http://orcid.org/0000-0001-5208-3432 Cockayne spectrum with or without cerebrooculofacioskeletal syndrome MONDO:0100509 Any ciliopathy in which the cause of the disease is biallelic variants in the IFT140 gene. http://orcid.org/0000-0001-5208-3432 IFT140-related recessive ciliopathy retinitis pigmentosa 80 short-rib thoracic dysplasia 9 with or without polydactyly IFT140-related recessive ciliopathy MONDO:0100510 An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column, epiphysis, and metaphysis. https://github.com/monarch-initiative/mondo/issues/5280 http://orcid.org/0000-0001-5208-3432 SEMD spondylo-epi-(meta)-physeal dysplasia spondyloepimetaphyseal dysplasia MONDO:0100511 The sudden loss of all heart activity due to an irregular heart rhythm. https://github.com/monarch-initiative/mondo/issues/2419 http://orcid.org/0000-0001-5208-3432 Change to current cardiac arrthymia parent requested and confirmed as a correct use of is-a by James Ware, cardiac expert. sudden cardiac arrest MONDO:0100514 Ovarian carcinoma that has developed in relatives of patients that have a history of ovarian carcinoma. https://github.com/monarch-initiative/mondo/issues/4889 http://orcid.org/0000-0001-5208-3432 hereditary ovarian cancer familial ovarian carcinoma hereditary ovarian carcinoma familiar ovarian carcinoma familial ovarian carcinoma MONDO:0100515 A familial congenital mirror movement disorder where individuals with heterozygous variants in DCC have congenital mirror movements and/or agenesis of the corpus callosum (not with or without- some individuals do not demonstrate mirror movements and only have corpus callosum defects, even within the same family). https://github.com/monarch-initiative/mondo/issues/5219 http://orcid.org/0000-0001-5208-3432 mirror movements 1 and/or agenesis of the corpus callosum MONDO:0100516 A complex neurodevelopmental disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy). Additionally, the disorder features at least one phenotype associated with motor function, including but not limited to spasticity, hypo- or hypertonia, dyskinesia, choreo-athetosis, or ataxia. http://orcid.org/0000-0001-5208-3432 This term is similar to cerebral palsy, but this is for individuals that do not have a clinical diagnosis. There is a subset of kids that encompass both complex neurodevelopmental disorders and motor features. complex neurodevelopmental disorder with motor features MONDO:0200000 An extremely rare adenosarcoma that arises from the uterine ligament. adenosarcoma of uterine ligament uterine ligament adenosarcoma uterine ligament adenosarcoma MONDO:0300000 A congenital disorder of glycosylation with a SSR3 deficiency that affects the brain, lungs and gastrointestinal system, and presents with clinical phenotypes such as seizures, intellectual disability, developmental delay, microcephaly and abnormal brain structure. https://orcid.org/0000-0003-2338-2550 SSR3 congenital disorder of glycosylation SSR3 deficiency SSR3-CDG MONDO:0400000 The presence of excessive bacteria in the small intestine that can result from result from failure of the gastric acid barrier, failure of small intestinal motility, anatomic alterations, or impairment of systemic and local immunity. SIBO small intestinal bacterial overgrowth MONDO:0400002 The ingestion of excessive calcium supplementation or calcium containing antacids, and alkali resulting in a triad of hypercalcemia, metabolic alkalosis, and renal insufficiency. milk-alkali syndrome calcium-alkali syndrome MONDO:0400003 A condition that results from excessive fluoride ingestion leading to fluoride accumulation in the bone progressively over many years. The early symptoms of skeletal fluorosis, include stiffness and pain in the joints. In severe cases, the bone structure may change and ligaments may calcify, with resulting impairment of muscles and pain. https://orcid.org/0000-0002-7463-6306 fluorosis of the skeleton skeletal fluorosis MONDO:0400004 Phrynoderma is a form of follicular hyperkeratosis seen in young children and adolescents due to nutritional deficiencies. It is clinically characterized by discrete, follicular, skin-colored papules with keratotic plugs distributed over elbows, knees, extensor extremities, and buttocks. https://orcid.org/0000-0002-7463-6306 phrynoderma MONDO:0400005 Potentially fatal shifts in fluids and electrolytes that may occur in malnourished patients receiving artificial refeeding (whether enterally or parenterally). https://orcid.org/0000-0002-7463-6306 refeeding syndrome MONDO:0400006 A rare chronic suppurative bacterial infection involving mostly subcutaneous tissues and less frequently other organs. Botryomycosis is mostly caused by Staphylococcus aureus, Escherichia coli and Pseudomonas aeruginosa but the exact pathogenesis remains uncertain. Treatment often requires a combination of both surgical debridement and long-term antimicrobial therapy. 2021-05-10T18:49:42Z https://orcid.org/0000-0002-7463-6306 bacterial pseudomycosis pyoderma vegetans botryomycosis MONDO:0500000 A disorder characterized by episodes of swelling under the skin (angioedema) and an elevated number of the white blood cells known as eosinophils (eosinophilia). During these episodes, symptoms of hives (urticaria), fever, swelling, weight gain and eosinophilia may occur. Symptoms usually appear every 3-4 weeks and resolve on their own within several days. Other cells may be elevated during the episodes, such as neutrophils and lymphocytes. Although the syndrome is often considered a subtype of the idiopathic hypereosinophilic syndromes, it does not typically have organ involvement or lead to other health concerns. Emily Hartley EAE Gleich syndrome Gleich's syndrome episodic angioedema with eosinophilia MONDO:0500018 A rare pulmonary disease with histological pattern of interstitial pneumonitis characterized by the deposit of intra-alveolar fibrin and diffuse organizing pneumonia within the alveolar ducts and bronchioles, with large etiological spectra. https://orcid.org/0000-0001-5839-2535 AFOP acute fibrinous and organizing pneumonia MONDO:0550003 Any autosomal dominant polycystic liver disease in which the cause of the disease is a mutation in the SEC61B gene. https://github.com/monarch-initiative/mondo/issues/1882 SEC61B-related polycystic liver disease MONDO:0600001 Glutaminase deficiency is characterized by refractory seizures, respiratory failure, brain abnormalities and death in the neonatal period, though milder cases with spastic ataxia-dysarthria have also been reported. This condition is caused by mutations in the glutaminase (GLS) gene. https://orcid.org/0000-0002-5460-8025 glutaminase deficiency glutaminase deficiency MONDO:0600002 An infectious disease caused by certain viruses or bacteria that can damage the walls of tiny blood vessels, making them leak, and can hamper the blood's ability to clot and cause severe, life-threatening illness. https://orcid.org/0000-0002-5460-8025 haemorrhagic fever hemorrhagic fever MONDO:0600003 A hemorrhagic fever caused by bacteria. Bacterial hemorrhagic disease is rare. One example of a bacterial hemorrhagic disease is scrub typhus. bacterial haemorrhagic fever haemorrhagic fever, bacterial bacterial hemorrhagic fever MONDO:0600005 An allergic disease involving venom. https://github.com/monarch-initiative/mondo/issues/158 https://orcid.org/0000-0002-5460-8025 IgE-mediated venom hypersensitivity venom hypersensitivity venom allergy MONDO:0600008 A syndrome that occurs after therapeutic infusion of antibodies into the blood and is characterized by nausea, headache, tachycardia, hypotension, rash, and shortness of breath. It is caused by the release of cytokines from the cells that are targeted by the antibodies. Most patients experience a mild to moderate reaction; however, the reaction may be severe and life-threatening. https://orcid.org/0000-0002-5460-8025 CRS cytokine storm cytokine-associated toxicity cytokine release syndrome MONDO:0600009 Severe hypophosphatasia is a rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization. Individuals often present with these features in infancy or in the perinatal period. https://orcid.org/0000-0002-5460-8025 severe hypophosphatasia MONDO:0600010 Moderate hypophosphatasia is a rare, moderate form of hypophosphatasia characterized by defective mineralization of bone and/or teeth, premature loss of teeth with intact roots, and reduced serum alkaline phosphatase (ALP) activity. Individuals can present with this form of hypophosphatasia in infancy, childhood, or adulthood. https://orcid.org/0000-0002-5460-8025 moderate hypophosphatasia MONDO:0600011 Mild hypophosphatasia is the most common form of hypophosphatasia characterized by low alkaline phosphatase, unspecific clinical signs, and typically presents in individuals in adulthood. https://orcid.org/0000-0002-5460-8025 attenuated hypophosphatasia mild hypophosphatasia MONDO:0600014 A rare form of interstitial and vascular lung disease that presents as severe pulmonary hypertension and refractory hypoxemia early in life that is characterized by a lack of misalignment of the pulmonary veins. https://github.com/monarch-initiative/mondo/issues/3026 https://github.com/monarch-initiative/mondo/pull/3186 https://orcid.org/0000-0002-5460-8025 ACD without misalignment alveolar capillary dysplasia without misalignment of pulmonary veins MONDO:0600016 A lethal, developmental lung malformation resulting in neonatal respiratory insufficiency. It is characterized by pulmonary hypoplasia and arrest in the pseudoglandular stage of development, resulting in the absence of functional gas exchange. It can be caused by mutations in FGF10, FGFR2 or TBX4. https://github.com/monarch-initiative/mondo/issues/3188 https://orcid.org/0000-0002-5460-8025 AcDys acinar dysplasia MONDO:0600017 Any acinar dysplasia in which the cause of the disease is a mutation in the FGF10 gene. https://github.com/monarch-initiative/mondo/issues/3188 https://orcid.org/0000-0002-5460-8025 FGF10 acinar dysplasia FGF10 related acinar dysplasia acinar dysplasia caused by mutation in FGF10 MONDO:0600018 Any acinar dysplasia in which the cause of the disease is a mutation in the FGFR2 gene. https://github.com/monarch-initiative/mondo/issues/3188 https://orcid.org/0000-0002-5460-8025 FGFR2 acinar dysplasia FGFR2 related acinar dysplasia acinar dysplasia caused by mutation in FGFR2 MONDO:0600019 Any acinar dysplasia in which the cause of the disease is a mutation in the TBX4 gene. https://github.com/monarch-initiative/mondo/issues/3188 https://orcid.org/0000-0002-5460-8025 TBX4 acinar dysplasia TBX4 related acinar dysplasia acinar dysplasia caused by mutation in TBX4 MONDO:0600023 Idiopathic form of inflammatory myopathy. https://github.com/monarch-initiative/mondo/issues/3143 https://orcid.org/0000-0002-5460-8025 idiopathic myositis idiopathic inflammatory myopathy MONDO:0600024 An instance of myositis that is caused by an inherited genomic modification in an individual, and has an unknown cause. https://orcid.org/0000-0002-5460-8025 familial idiopathic myositis familial idiopathic inflammatory myopathy MONDO:0600025 Fluid accumulation and dilatation of the fallopian tube due to tubal blockage. https://github.com/monarch-initiative/mondo/issues/3249 https://orcid.org/0000-0002-5460-8025 blocked fallopian tube fallopian tube obstruction hydrosalpinx MONDO:0600026 A rare form of irreversible damage to the pulmonary parenchyma often due to chronic obstructive pulmonary disease (COPD). It is associated with a spectrum of clinical manifestations, including worsening dyspnea, cough, declining pulmonary function, and occasionally spontaneous pneumothorax due to ruptured bullae. https://orcid.org/0000-0002-5460-8025 VLS idiopathic giant bullous emphysema vanishing lung syndrome MONDO:0600027 Serious heritable structural anomalies of the right side of the heart, including pulmonary atresia, tricuspid valve disease and Ebstein's anomaly, and right ventricular outflow tract obstruction and/or pulmonary stenosis, that are present from birth. https://orcid.org/0000-0002-5460-8025 congenital right-sided heart lesions MONDO:0600029 Decreased lung volume and inadequate ventilation due to parenchymal lung disorders (e.g., interstitial pulmonary fibrosis) or extrapulmonary disorders (e.g., scoliosis). Patients present with shortness of breath and cough. https://orcid.org/0000-0002-5460-8025 Restrictive lung disease (disorder) restrictive lung disease restrictive pulmonary disease MONDO:0600030 A B-cell acute leukemia characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1. It occurs in children and less often in adults. https://orcid.org/0000-0002-5460-8025 B acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) B lymphoblastic leukemia lymphoma with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) (morphologic abnormality) B-acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) B-lymphoblastic leukemia/lymphoma with TCF3-PBX1 B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) MONDO:0700000 Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the ALG9 gene. https://orcid.org/0000-0002-4142-7153 ALG9 autosomal dominant polycystic kidney disease ALG9 related autosomal dominant polycystic kidney disease ALG9-associated ADPKD ALG9-associated autosomal dominant polycystic kidney disease autosomal dominant polycystic kidney disease caused by mutation in ALG9 ALG9-associated autosomal dominant polycystic kidney disease MONDO:0700001 A rare pulmonary complication of an underlying autoimmune disorder that is reported in association with systemic lupus erythematosus (SLE). Reduced lung volumes result in restrictive ventilatory defect and a preserved carbon monoxide transfer coefficient. https://orcid.org/0000-0002-4142-7153 shrinking of the lung SLS small lungs Chest x-ray often shows small but clear lungs. It is mostly presented in combination with diaphragmatic elevation and occasional basal atelectasis. shrinking lung syndrome MONDO:0700002 Any neurological disorder in which the cause of the disease is a mutation in the ATP1A3. https://orcid.org/0000-0002-4142-7153 ATP1A3 neurological disorder ATP1A3 related neurological disorder neurological disorder caused by mutation in ATP1A3 ATP1A3-associated neurological disorder MONDO:0700003 Disorder associated with pregnancy, childbirth, and puerperium. https://orcid.org/0000-0002-4142-7153 obstetric disorder MONDO:0700004 A disease characteristic in which the cause of the disease is known or unknown. https://orcid.org/0000-0002-4142-7153 idiopathic vs non-idiopathic MONDO:0700005 A disease characteristic in which the disease has an uncertain or unknown cause. https://orcid.org/0000-0002-4142-7153 idiopathic MONDO:0700006 A disease characteristic in which the disease has a known cause. https://orcid.org/0000-0002-4142-7153 non-idiopathic MONDO:0700007 A disease or disorder for which the cause is of uncertain or unknown. https://github.com/monarch-initiative/mondo/issues/3169 https://orcid.org/0000-0002-4142-7153 idiopathic disorder idiopathic disease MONDO:0700008 Chromosomal disorder in which chromosome 1 is affected. https://orcid.org/0000-0002-4142-7153 chromosome 1 disorder MONDO:0700009 Chromosomal disorder in which chromosome 2 is affected. https://orcid.org/0000-0002-4142-7153 chromosome 2 disorder MONDO:0700010 Chromosomal disorder in which chromosome 3 is affected. https://orcid.org/0000-0002-4142-7153 chromosome 3 disorder MONDO:0700011 Chromosomal disorder in which chromosome 4 is affected. https://orcid.org/0000-0002-4142-7153 chromosome 4 disorder MONDO:0700012 Chromosomal disorder in which chromosome 5 is affected. https://orcid.org/0000-0002-4142-7153 chromosome 5 disorder MONDO:0700013 Chromosomal disorder in which chromosome 6 is affected. https://orcid.org/0000-0002-4142-7153 chromosome 6 disorder MONDO:0700014 Chromosomal disorder in which chromosome 7 is affected. https://orcid.org/0000-0002-4142-7153 chromosome 7 disorder MONDO:0700015 Chromosomal disorder in which chromosome 8 is affected. https://orcid.org/0000-0002-4142-7153 anomaly of chromosome pair 8 chromosome 8 disorder MONDO:0700016 Chromosomal disorder in which chromosome 9 is affected. https://orcid.org/0000-0002-4142-7153 chromosome 9 disorder MONDO:0700017 Chromosomal disorder in which chromosome 10 is affected. https://orcid.org/0000-0002-4142-7153 chromosome 10 disorder MONDO:0700018 Chromosomal disorder in which chromosome 11 is affected. https://orcid.org/0000-0002-4142-7153 chromosome 11 disorder MONDO:0700019 Chromosomal disorder in which chromosome 12 is affected. https://orcid.org/0000-0002-4142-7153 chromosome 12 disorder MONDO:0700020 Chromosomal disorder in which chromosome 13 is affected. https://orcid.org/0000-0002-4142-7153 chromosome 13 disorder MONDO:0700021 Chromosomal disorder in which chromosome 14 is affected. https://orcid.org/0000-0002-4142-7153 chromosome 14 disorder MONDO:0700022 Chromosomal disorder in which chromosome 15 is affected. https://orcid.org/0000-0002-4142-7153 chromosome 15 disorder MONDO:0700023 Chromosomal disorder in which chromosome 16 is affected. https://orcid.org/0000-0002-4142-7153 chromosome 16 disorder MONDO:0700024 Chromosomal disorder in which chromosome 19 is affected. https://orcid.org/0000-0002-4142-7153 chromosome 19 disorder MONDO:0700025 Chromosomal disorder in which chromosome 20 is affected. https://orcid.org/0000-0002-4142-7153 chromosome 20 disorder MONDO:0700026 Chromosomal disorder in which chromosome 22 is affected. https://orcid.org/0000-0002-4142-7153 chromosome 22 disorder MONDO:0700027 Chromosomal disorder in which chromosome X is affected. https://orcid.org/0000-0002-4142-7153 chromosome X disorder MONDO:0700028 Chromosomal disorder in which chromosome Y is affected. https://orcid.org/0000-0002-4142-7153 chromosome Y disorder MONDO:0700029 https://orcid.org/0000-0002-4142-7153 partial duplication of chromosome 13 MONDO:0700030 Trisomy 21 characterized by the presence of an extra chromosome 21 in all the cells of the organism. https://github.com/monarch-initiative/mondo/issues/5137 https://orcid.org/0000-0002-4142-7153 standard trisomy 21 complete trisomy 21 MONDO:0700031 Trisomy 18 in which the presence of an extra copy of chromosome 18 is present only in some of the cells of the organism. https://orcid.org/0000-0002-4142-7153 mosaic trisomy 18 MONDO:0700032 Trisomy 18 in which the presence of an extra copy of chromosome 18 is present in all the cells of the organism. https://orcid.org/0000-0002-4142-7153 complete trisomy 18 MONDO:0700033 Trisomy 13 in which the presence of an extra copy of chromosome 13 is present in all the cells of the organism. https://orcid.org/0000-0002-4142-7153 complete trisomy 13 MONDO:0700034 Trisomy 13 in which the presence of an extra copy of chromosome 13 is present only in some of the cells of the organism. https://orcid.org/0000-0002-4142-7153 trisomy 13 mosaicism mosaic trisomy 13 MONDO:0700035 A chromosomal disorder consisting of the absence of one chromosome 8. chromosome 8 deletion loss of chromosome 8 monosomy chromosome 8 MONDO:0700036 A sex cord-stromal tumor characterized by mixed features of both fibroma and thecoma. https://orcid.org/0000-0002-4142-7153 fibrothecoma MONDO:0700037 A rare testicular sex cord-stromal neoplasm characterized by mixed features of both fibroma and thecoma. https://orcid.org/0000-0002-4142-7153 testicular fibrothecoma MONDO:0700038 Disease characterized by the presence of abnormally phosphorylated, ubiquitinated, and cleaved DNA-binding protein TDP-43 in affected brain and spinal cord. Inclusions of the pathologic protein in neurons and glia, without the presence of AMYLOID, is the major feature of these conditions, thus making these proteinopathies distinct from most other neurogenerative disorders in which protein misfolding leads to brain amyloidosis. Both frontotemporal lobar degeneration and AMYOTROPHIC LATERAL SCLEROSIS exhibit this common method of pathogenesis and thus they may represent two extremes of a continuous clinicopathological spectrum of one disease. https://orcid.org/0000-0002-4142-7153 TDP-43 proteinopathy MONDO:0700039 An anterior midline defect with variable expression involving the infraumbilical abdominal wall including the pelvis, urinary tract, and external genitalia. https://github.com/monarch-initiative/mondo/issues/3650 https://orcid.org/0000-0002-4142-7153 BEEC bladder exstrophy-epispadias-cloacal extrophy complex MONDO:0700040 Jaundice that appears during the neonatal period due to high levels of unconjugated bilirubin that are a result of maternal-fetal ABO incompatibility. https://github.com/monarch-initiative/mondo/issues/4480 https://orcid.org/0000-0002-4142-7153 neonatal jaundice due to ABO incompatibility MONDO:0700041 https://orcid.org/0000-0002-4142-7153 NBLST2 neuroblastoma, susceptibility to, type 2 susceptibility to neuroblastoma 2 neuroblastoma, susceptibility to, 2 MONDO:0700042 A susceptibility or predisposition to mycobacterial infectious diseases in which the cause of the disease is a mutation in the IKBKG gene. https://github.com/monarch-initiative/mondo/issues/5701 https://orcid.org/0000-0002-4142-7153 IKBKG X-linked mendelian susceptibility to mycobacterial diseases X-linked MSMD due to IKBKG deficiency X-linked MSMD due to NEMO deficiency X-linked mendelian susceptibility to mycobacterial diseases caused by mutation in IKBKG X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency MONDO:0700043 https://orcid.org/0000-0002-4142-7153 syndrome caused by partial chromosomal duplication of the short arm of chromosome 9 MONDO:0700044 A tubulinopathy syndrome often associated with microtubule dysfunction, malformations of the corpus callosum, enlarged ventricles, dysgyria, abnormal basal ganglia, cerebellar vermis hypoplasia/dysplasia, and decreased white matter, due to heterozygous variants in TUBB2A. Individuals may present with variable combinations of malformations of the corpus callosum, enlarged ventricles, dysgyria, abnormal basal ganglia, cerebellar vermis hypoplasia/dysplasia, and decreased white matter. Epilepsy, speech impairment, and motor impairment are also frequent features. https://github.com/monarch-initiative/mondo/issues/5700 https://orcid.org/0000-0002-4142-7153 TUBB2A-related tubulinopathy MONDO:0700045 A disease caused by infection with achlorophyllic algae of the genus Prototheca, the majority caused by the species P. wickerhamii. Clinical manifestations of reported cases have included cutaneous lesions, olecranon bursitis, or systemic involvement. https://github.com/monarch-initiative/mondo/issues/5535 https://orcid.org/0000-0002-4142-7153 protothecosis MONDO:0700046 Withdrawal syndrome involving the abrupt discontinuation of baclofen therapy (intrathecal or oral). Baclofen withdrawal syndrome can result in high fever, altered mental status (including agitation, insomnia, confusion, delusions, hallucinations, seizures, visual changes, or psychosis), and potentially profound muscular rigidity that sometimes progresses to fatal rhabdomyolysis. https://github.com/monarch-initiative/mondo/issues/5544 https://orcid.org/0000-0002-4142-7153 baclofen withdrawal syndrome MONDO:0700047 Osteoporosis occuring in premenopausal women with existing fragility fractures, diseases or treatments known to cause bone loss or fractures. https://github.com/monarch-initiative/mondo/issues/5742 http://orcid.org/0000-0002-4142-7153 premenopausal osteoporosis MONDO:0700048 A condition characterized by redness, pain, swelling, and tingling in the palms of the hands or the soles of the feet. It may appear as a side effect to chemotherapy agents. https://github.com/monarch-initiative/mondo/issues/5531 palmar-plantar erythrodysthesia hand-foot syndrome MONDO:0700051 An abscess that involves the liver. https://orcid.org/0000-0002-4142-7153 abscess of liver hepatic abscess liver abscess (disease) MONDO:0700052 An abscess contained between the internal and external anal sphincters. https://orcid.org/0000-0002-4142-7153 intersphincteric abscess MONDO:0700054 Disorder of fetal brain growth; individuals have small brains and almost always have mental retardation, although rare individuals with mild microcephaly (-3 SD) and normal intelligence have been reported. Clinical features include the features of ‘microcephaly 6, primary, autosomal recessive’ and 'Seckel syndrome', and may include short stature or mild seizures. https://github.com/monarch-initiative/mondo/issues/4686 Primary microcephaly refers to the clinical finding of a head circumference more than than 3 standard deviations (SD) below the age- and sex-related mean, present at birth. Primary microcephaly is a static developmental anomaly, distinguished from secondary microcephaly, which refers to a progressive neurodegenerative condition. Microcephaly is a disorder of fetal brain growth; individuals with microcephaly have small brains and almost always have mental retardation, although rare individuals with mild microcephaly (-3 SD) and normal intelligence have been reported. Additional clinical features may include short stature or mild seizures. These clinical features include Seckel syndrome, a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (Shanske et al., PMID: 9128935). MCPH is associated with a simplification of the cerebral cortical gyral pattern and a slight reduction in the volume of the white matter, consistent with the small size of the brain, but the architecture of the brain in general is normal, with no evidence of a neuronal migration defect (Woods et al., PMID: 15806441). Seckel syndrome 4 and autosomal recessive primary microcephaly 6 are currently lumped together into one disease entity per the criteria outlined by the ClinGen Lumping and Splitting Working Group, while more published literature detailing Seckel syndrome 4 may support two split disease entities in the future. microcephaly 6 with or without short stature MONDO:0700055 KIF1A-associated neurological disorder (KAND) encompasses a group of rare neurodegenerative conditions caused by variants in KIF1A https://github.com/monarch-initiative/mondo/issues/4694 http://orcid.org/0000-0002-4142-7153 KAND KIF1A neurological disorder neurological disorder caused by mutation in KIF1A neurological disorder caused by variation in KIF1A KIF1A related neurological disorder MONDO:0700057 A nervous system disorder that has pain as a major feature. https://orcid.org/0000-0002-4142-7153 neurologic pain syndrome neurological pain disease neurological pain disorder MONDO:0700058 Compressive neuropathy of the forefoot interdigital nerve chiefly due to compression and irritation at the plantar aspect of the transverse intermetatarsal ligament. It is not a true neuroma as the condition is degenerative rather than neoplastic. The most common location for Morton neuroma is between the 2nd and 3rd metatarsals. https://github.com/monarch-initiative/mondo/issues/5541 https://orcid.org/0000-0002-4142-7153 Morton entrapment Morton metatarsalgia interdigital nerve compression syndrome interdigital neuralgia interdigital neuritis interdigital neuroma intermetatarsal neuroma Morton neuroma MONDO:0700060 X-linked form of acute leukemia https://orcid.org/0000-0002-4142-7153 leukemia, acute, X-linked MONDO:0700061 A disease characteristic in which the cause of the disease is present in some of the cells of the organism, or in all the cells of the organism. https://orcid.org/0000-0002-4142-7153 mosaic vs complete MONDO:0700062 A disease characteristic in which the cause of the disease is present in some of the cells of the organism. https://orcid.org/0000-0002-4142-7153 mosaic MONDO:0700063 A disease characteristic in which the cause of the disease is present in all the cells of the organism. https://orcid.org/0000-0002-4142-7153 complete MONDO:0700064 Chromosomal disorder consisting of the presence a chromosomal abnormality in which there is an addition or loss of chromosomes within a set. https://orcid.org/0000-0002-4142-7153 chromosome number anomaly aneuploidy MONDO:0700065 A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number. https://orcid.org/0000-0002-4142-7153 chromosomal triplication trisomy MONDO:0700066 Any myopathy in which the cause of the disease is a variation in the FKRP gene. https://orcid.org/0000-0002-4142-7153 FKRP myopathy FKRP-related myopathy myopathy caused by mutation in FKRP myopathy caused by variation in FKRP MONDO:0700067 Any myopathy in which the cause of the disease is a variation in the FKTN gene. https://orcid.org/0000-0002-4142-7153 FKTN myopathy FKTN-related myopathy myopathy caused by mutation in FKTN myopathy caused by variation in FKTN MONDO:0700068 Any myopathy in which the cause of the disease is a variation in the POMGNT1 gene. https://orcid.org/0000-0002-4142-7153 POMGNT1 myopathy POMGNT1-related myopathy myopathy caused by mutation in POMGNT1 myopathy caused by variation in POMGNT1 MONDO:0700069 Any myopathy in which the cause of the disease is a variation in the POMGNT2 gene. https://orcid.org/0000-0002-4142-7153 POMGNT2 myopathy POMGNT2-related myopathy myopathy caused by mutation in POMGNT2 myopathy caused by variation in POMGNT2 MONDO:0700070 Any myopathy in which the cause of the disease is a variation in the POMT1 gene. https://orcid.org/0000-0002-4142-7153 POMT1 myopathy POMT1-related myopathy myopathy caused by mutation in POMT1 myopathy caused by variation in POMT1 MONDO:0700071 Any myopathy in which the cause of the disease is a variation in the POMT2 gene. https://orcid.org/0000-0002-4142-7153 POMT2 myopathy POMT2-related myopathy myopathy caused by mutation in POMT2 myopathy caused by variation in POMT2 MONDO:0700073 Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFA gene. https://github.com/monarch-initiative/mondo/issues/4691 http://orcid.org/0000-0002-4142-7153 ETFA deficiency GA2A glutaric acidemia 2A multiple acyl-CoA dehydrogenase deficiency caused by mutation in ETFA glutaric acidemia IIa MONDO:0700074 Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFB gene. https://github.com/monarch-initiative/mondo/issues/4691 http://orcid.org/0000-0002-4142-7153 ETFB deficiency GA2B glutaric acidemia 2B multiple acyl-CoA dehydrogenase deficiency caused by mutation in ETFB glutaric acidemia IIb MONDO:0700075 Any congenital muscular dystrophy in which the cause of the disease is a variation in the POMGNT2 gene. https://github.com/monarch-initiative/mondo/issues/4069 https://orcid.org/0000-0002-4142-7153 congenital muscular dystrophy caused by mutation in POMGNT2 congenital muscular dystrophy-POMGNT2 related congenital muscular dystrophy caused by variation in POMGNT2 MONDO:0700076 Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFDH gene. https://github.com/monarch-initiative/mondo/issues/4691 http://orcid.org/0000-0002-4142-7153 ETFDH deficiency GA2C glutaric acidemia 2C multiple acyl-CoA dehydrogenase deficiency caused by mutation in ETFDH glutaric acidemia IIc MONDO:0700077 http://orcid.org/0000-0002-4142-7153 VAMAS6 vitiligo-associated multiple autoimmune disease susceptibility 6 MONDO:0700078 A breast carcinoma which is positive for expression of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2). https://github.com/monarch-initiative/mondo/issues/4933 http://orcid.org/0000-0002-4142-7153 HR-positive HER2 positive breast cancer hormone receptor positive her2 positive breast cancer triple positive breast cancer triple-positive breast carcinoma MONDO:0700079 A breast carcinoma which is positive for expression of estrogen receptor (ER), progesterone receptor (PR), and is negative for expression of human epidermal growth factor receptor 2 (HER2). https://github.com/monarch-initiative/mondo/issues/4933 http://orcid.org/0000-0002-4142-7153 HR-positive HER2-negative breast cancer hormone receptor-positive breast cancer MONDO:0700080 Any vascular malformation in which the cause of the disease is a variation in the EPHB4 gene. https://github.com/monarch-initiative/mondo/issues/4941 Variants in the EPHB4 gene have been observed in individuals with capillary malformation-arteriovenous malformation (CM-AVM) (characterized by the presence of multiple small capillary malformations, mostly on the face and limbs, +/- other arteriovenous malformations or arteriovenous fistulas) as well as with lymphatic malformations, ranging in severity from severe non-immune hydrops fetalis to varicose veins and/or subclinical lymphatic anomalies, even within the same family (PMID:27400125). Evidence suggests that both of these presentations are caused by loss of function, though the exact mechanism by which this occurs is variable; some variants demonstrate reduced expression and defects in subcellular localization with aggregates, others have normal expression levels but reduced tyrosine kinase activity) (PMID:33864021). It has been hypothesized that the different presentations may be due to differences in forward vs. reverse signaling defects, but this remains to be elucidated. [PMID:27400125, PMID:2868770, PMID:30760892, PMID:33864021] EPHB4-associated vascular malformation spectrum MONDO:0700081 A condition beginning in the first day of life that results from inadequate surfactant production, causing increased work of breathing and impaired gas exchange. https://github.com/monarch-initiative/mondo/issues/5005 RDS respiratory distress syndrome HMD - hyaline membrane disease RDS Of newborns RDS, respiratory distress syndrome Of newborns hyaline membrane disease infant ARDS infant acute respiratory distress syndrome infant respiratory distress syndrome neonatal respiratory distress neonatal respiratory distress syndrome newborns (RDS), respiratory distress syndrome Of pulmonary hyaline membrane disease pulmonary hypoperfusion syndrome of newborn respiratory distress syndrome Of newborns respiratory distress syndrome Of newborns (RDS) respiratory distress syndrome in the newborn respiratory distress syndrome of newborn syndrome Of newborns (RDS), respiratory distress RDS of prematurity respiratory distress syndrome in premature infants NRDS RDS - infants respiratory distress syndrome, infant newborn respiratory distress syndrome MONDO:0700082 Chromosomal disorder in which (part or full) chromosome 21 is attached to another chromosome, resulting in the presence of a third copy of part of full chromosome 21 genetic material. A Robertsonian translocation is a structural chromosomal anomaly in which two acrocentric chromosomes break, resulting in the fusion of the nonhomologous chromosomes’ long arms to form a single, large chromosome. https://github.com/monarch-initiative/mondo/issues/5109 http://orcid.org/0000-0002-4142-7153 Robertsonian translocation Down syndrome MONDO:0700083 Chromosomal disorder in which (part or full) chromosome 21 has been exchange with another chromosome, resulting in the presence of a third copy of (part or full) chromosome 21 genetic material. A reciprocal translocation is a chromosome abnormality caused by exchange of parts between non-homologous chromosomes. https://github.com/monarch-initiative/mondo/issues/5109 http://orcid.org/0000-0002-4142-7153 reciprocal translocation down syndrome MONDO:0700084 Any myopathy in which the cause of the disease is a variation in the GMPPB gene. https://orcid.org/0000-0002-4142-7153 GMPPB-related myopathy myopathy caused by mutation in GMPPB myopathy caused by variation in GMPPB MONDO:0700085 A chromosomal disorder consisting of the presence of three chromosomes of the same type in addition to the normal diploid number. https://orcid.org/0000-0002-4142-7153 pentasomy MONDO:0700086 A condition characterized by the inheritance of a chromosome pair from one parent and no chromosomal copies from the other parent. It results in developmental abnormalities or rare recessive disorders. https://orcid.org/0000-0002-4142-7153 uniparental disomy MONDO:0700087 Usher syndrome in which the cause of the disease is a mutation in the MYO7A gene https://github.com/monarch-initiative/mondo/issues/4521 Usher syndrome, type 1B Usher syndrome type 1B MONDO:0700088 Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia, characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation. https://orcid.org/0000-0002-4142-7153 Paroxystic non-kinesigenic choreoathetosis DYT-MR-1 Paroxysomal nonkinesigenic dyskinesia paroxysmal non-kinesigenic dyskinesia paroxysmal nonkinesigenic dyskinesia MONDO:0700089 Paroxysmal nonkinesigenic dyskinesia in which the cause of the disease is a mutation in the PNKD gene. https://orcid.org/0000-0002-4142-7153 PNKD paroxysmal dyskinesia PxMD-PNKD paroxysmal dyskinesia caused by mutation in PNKD paroxysmal nonkinesigenic dyskinesia 1 paroxysmal nonkinesigenic dyskinesia type 1 PNKD1 choreoathetosis, familial paroxysmal choreoathetosis, nonkinesigenic dystonia 8 mount-reback syndrome paroxysmal dystonic choreoathetosis paroxysmal nonkinesigenic dyskinesia 1 MONDO:0700090 An autosomal dominant condition caused by mutation(s) in the LGI1 gene, encoding leucine-rich glioma-inactivated protein 1. It is characterized by partial seizures originating in the temporal lobe and often accompanied by auditory sensory manifestations. https://github.com/monarch-initiative/mondo/issues/2614 https://orcid.org/0000-0002-4142-7153 ETL1 epilepsy, familial temporal lobe, type 1 epilepsy, lateral temporal lobe, autosomal dominant epilepsy, partial, with auditory features epilepsy, familial temporal lobe, 1 MONDO:0700091 Chromosomal disorder in which the chromosomal anomaly consists of the presence of a ring chromosome. A ring chromosome is a chromosome whose arms have fused together to form a ring, often with the loss of the ends of the chromosome. https://orcid.org/0000-0002-4142-7153 supernumerary circular chromosome ring chromosome disorder MONDO:0700092 A behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions. https://github.com/monarch-initiative/mondo/issues/3410 https://orcid.org/0000-0002-4142-7153 neurodevelopmental disorder MONDO:0700093 Robertsonian translocation Down syndrome in which translocation displacement of the end regions of chromosomes occured without loss of chromosomal material between the two nonhomologous chromosomes. https://github.com/monarch-initiative/mondo/issues/5109 http://orcid.org/0000-0002-4142-7153 balanced Robertsonian translocation Down syndrome MONDO:0700094 Robertsonian translocation Down syndrome in which translocation displacement of the end regions of chromosomes occured with loss of chromosomal material between the two nonhomologous chromosomes. https://github.com/monarch-initiative/mondo/issues/5109 http://orcid.org/0000-0002-4142-7153 unbalanced Robertsonian translocation Down syndrome MONDO:0700096 https://github.com/monarch-initiative/mondo/issues/5858 http://orcid.org/0000-0002-4142-7153 human disease or disorder human disease MONDO:0700107 Chromosome 19q13.11 deletion syndrome in which the distal region was deleted. https://orcid.org/0000-0002-4142-7153 chromosome 19q13.11 deletion syndrome, distal MONDO:0700112 Any visceral hetetotaxy in which the cause of the disease is a mutation in the NODAL gene. https://github.com/monarch-initiative/mondo/issues/2826 http://orcid.org/0000-0002-4142-7153 HTX5 NODAL visceral heterotaxy SIV situs inversus viscerum visceral heterotaxy caused by mutation in NODAL heterotaxy, visceral, 5, autosomal MONDO:0700115 Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes. https://github.com/monarch-initiative/mondo/issues/4259 http://orcid.org/0000-0002-4142-7153 proliferative vitreoretinopathy MONDO:0700116 A brain disorder caused by biallelic variants in NDE1 that is characterized by extreme microcephaly (typically head circumference of more than 10 standard deviations (SD) below the mean), profound motor and intellectual disability, spasticity, and incomplete cerebral formation. Radiologic studies demonstrate overt microcephaly with cortical dysgenesis ranging from simplification to pachygyria/lissencephaly to hydranencephaly. Agenesis of the corpus callosum as well as hypoplasia of the brainstem and cerebellum are typically present. https://github.com/monarch-initiative/mondo/issues/5582 http://orcid.org/0000-0002-4142-7153 microcephaly with lissencephaly and/or hydranencephaly MONDO:0700117 A complex movement disorder characterized by tremor, rigidity, bradykinesia, chorea, reduced facial expression, and Parkinsonism-dystonia. This disease is caused by loss of function variants in the SLC6A3 gene, which impair the dopamine transporter protein. The onset of this disease ranges from infancy to adulthood. https://github.com/monarch-initiative/mondo/issues/5523 http://orcid.org/0000-0002-4142-7153 DTDS Dopamine transporter deficiency syndrome SLC6A3-related dopamine transporter deficiency syndrome https://rarediseases.info.nih.gov/diseases/10484/infantile-parkinsonism-dystonia MONDO:0700118 Chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material from the part of the long (q) arm near the center of chromosome 18. https://orcid.org/0000-0002-4142-7153 proximal 18q deletion proximal 18q deletion syndrome proximal 18q- proximal chromosome 18q deletion syndrome MONDO:0700119 Distal chromosome 18q deletion syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material at the end of the long arm (q) of chromosome 18. https://orcid.org/0000-0002-4142-7153 distal 18q deletion distal 18q deletion syndrome distal 18q- distal chromosome 18q deletion syndrome MONDO:0700120 Disorder caused by mutations in the various subunits composing the BAF complex. https://github.com/monarch-initiative/mondo/issues/3939 https://orcid.org/0000-0002-4142-7153 BAFopathy MONDO:0700121 Any BAFopathy in which the cause of the disease is a mutation in the ACTL6A gene. https://github.com/monarch-initiative/mondo/issues/3939 ACTL6A-related BAFopathy MONDO:0700122 Any BAFopathy in which the cause of the disease is a mutation in the PBRM1 gene. https://github.com/monarch-initiative/mondo/issues/3939 PBRM1-related BAFopathy MONDO:0700123 Any BAFopathy in which the cause of the disease is a mutation in the SMARCC1 gene. https://github.com/monarch-initiative/mondo/issues/3939 SMARCC1-related BAFopathy MONDO:0700124 Chromosomal disorder in which chromosome 21 is affected. https://orcid.org/0000-0002-4142-7153 chromosome 21 disorder MONDO:0700125 Chromosomal disorder in which chromosome 18 is affected. https://orcid.org/0000-0002-4142-7153 chromosome 18 disorder MONDO:0700126 A chromosomal disorder consisting of the presence of an extra chromosome 21. https://orcid.org/0000-0002-4142-7153 trisomy 21 MONDO:0700127 Trisomy 21 characterized by the presence of an extra chromosome 21 in some of the cells of the organism. https://orcid.org/0000-0002-4142-7153 mosaic trisomy 21 MONDO:0700128 Down syndrome in which the extra (partial or total) copy of chromosome 21 genetic material is attached to another chromosome. https://orcid.org/0000-0002-4142-7153 Robertsonian Translocation Trisomy 21 translocation Down syndrome MONDO:0700129 Translocation Down syndrome in which the extra (partial or total) copy of chromosome 21 attached to another chromosome is present in some of the cells of the organism. https://orcid.org/0000-0002-4142-7153 mosaic translocation Down syndrome MONDO:0700130 A chromosomal disorder consisting of the partial duplication of chromosome 21. https://github.com/monarch-initiative/mondo/issues/5137 https://orcid.org/0000-0002-4142-7153 segmental duplication partial trisomy 21 The INCLUDE DCC proposes partial trisomy 21 should be known as partial segmental duplication of chromosome 21, but the term partial trisomy 21 is contradictory because trisomy means three, and there are not three chromosomes. partial segmental duplication MONDO:0700200 A subset of SLC6A3-related DTDS cases which have later onset which ranges from late childhood to adulthood. This disorder is characterized by the presentation of parkinsonism-dystonia, rigidity, tremor, and bradykinesia after normal childhood development. https://github.com/monarch-initiative/mondo/issues/5523 http://orcid.org/0000-0002-4142-7153 atypical DTDS atypical dopamine transporter deficiency syndrome MONDO:0700207 Transient state of hypogonadotropic hypogonadism associated with prolongation of childhood phase of growth, delayed skeletal maturation, delayed and attenuated pubertal growth spurt, and relatively low insulin-like growth factor-1 secretion. https://github.com/monarch-initiative/mondo/issues/5534 https://orcid.org/0000-0002-4142-7153 constitutional delay of growth and puberty MONDO:0700215 Neoplasm defined by the expression of a Neurotrophic Tyrosine Receptor Kinase (NTRK) Fusion. NTRK fusion-positive tumors have been identified in a broad range of solid tumor types, including breast, cholangiocarcinoma, colorectal, gynecological, neuroendocrine, non-small cell lung, salivary gland, pancreatic, sarcoma and thyroid cancers. https://github.com/monarch-initiative/mondo/issues/5538 https://orcid.org/0000-0002-4142-7153 NTRK fusion positive neoplasm NTRK fusion positive solid tumor neurotrophic tyrosine receptor kinase fusion positive cancer neurotrophic tyrosine receptor kinase fusion positive neoplasm neurotrophic tyrosine receptor kinase fusion positive solid tumor NTRK fusion positive cancer MONDO:0700216 Neoplasm defined by the expression of a RET (REarranged during Transfection) fusion. https://github.com/monarch-initiative/mondo/issues/5538 https://orcid.org/0000-0002-4142-7153 RET fusion positive neoplasm RET fusion positive solid tumor RET fusion positive cancer MONDO:0700217 Bacterial infection in the bloodstream of newborn infants younger than 28 days old. https://github.com/monarch-initiative/mondo/issues/5533 https://orcid.org/0000-0002-4142-7153 neonatal sepsis MONDO:0700218 A disease caused by infection with Group B Streptococcus. https://github.com/monarch-initiative/mondo/issues/5533 group B streptococcal infection MONDO:0700219 Metastatic neoplasm in which the tumor cells spread to leptomeninges (pia and arachnoid) and subarachnoid space. The most common primary tumors metastasizing to the leptomeninges are breast and lung carcinomas, melanoma, aggressive non-Hodgkin lymphoma, and acute lymphocytic leukemia. https://github.com/monarch-initiative/mondo/issues/5495 carcinomatous meningitis leptomeningeal carcinoma leptomeningeal carcinomatosis leptomeningeal metastasis meningeal carcinomatosis meningeal metastasis metastatic malignant neoplasm in the leptomeninges neoplastic meningitis MONDO:0800001 An inherited susceptibility or predisposition to developing delayed sleep phase syndrome. https://github.com/monarch-initiative/mondo/issues/2863 https://github.com/monarch-initiative/mondo/issues/4521 https://orcid.org/0000-0001-8314-2140 delayed sleep phase disorder, susceptibility to delayed sleep phase syndrome, susceptibility to MONDO:0800025 A rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia, such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes. Teebi hypertelorism syndrome Teebi syndrome hypertelorism, Teebi type Brachycephalofrontonasal dysplasia craniofrontonasal dysplasia, Teebi type Teebi hypertelorism syndrome 1 MONDO:0800026 A rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients. CCHS Ondine curse Ondine curse, congenital Ondine syndrome autonomic control, congenital failure of central congenital hypoventilation syndrome congenital Ondine curse congenital central alveolar hypoventilation syndrome congenital central hypoventilation congenital central hypoventilation syndrome CCHS with Hirschsprung disease Haddad syndrome Ondine curse (formerly) Ondine's curse (formerly) Ondine-Hirschsprung disease central hypoventilation syndrome, congenital congenital failure of autonomic control idiopathic congenital central alveolar hypoventilation primary alveolar hypoventilation central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease https://rarediseases.info.nih.gov/diseases/8535/congenital-central-hypoventilation-syndrome MONDO:0800027 A rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy. https://orcid.org/0000-0001-8314-2140 HDLS hereditary diffuse leukoencephalopathy with spheroids leukoencephalopathy, diffuse hereditary, with spheroids leukoencephalopathy, hereditary diffuse, with spheroids ALSP FPSG GPSC POLD adult-onset leukoencephalopathy with axonal spheroids and pigmented glia autosomal dominant leukoencephalopathy with neuroaxonal spheroids dementia, familial, Neumann type familial dementia, Neumann type familial progressive subcortical gliosis gliosis, familial progressive subcortical leukoencephalopathy with neuroaxonal spheroids, autosomal dominant leukoencephalopathy, adult-onset, with axonal spheroids and pigmented glia pigmentary orthochromatic leukodystrophy subcortical gliosis of Neumann adult-onset leukodystrophy with neuroaxonal spheroids hereditary diffuse leukoencephalopathy with axonal spheroids neuroaxonal leukodystrophy leukoencephalopathy, diffuse hereditary, with spheroids 1 MONDO:0800028 A rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness. FDFM dyskinesia, familial, with facial myokymia ADCY5-related dyskinesia dyskinesia with orofacial involvement, autosomal dominant MONDO:0800029 A nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause. CFA ILD2 IPF UIP cryptogenic fibrosing alveolitis fibrocystic pulmonary dysplasia fibrosing alveolitis, cryptogenic idiopathic pulmonary fibrosis, familial interstitial pneumonitis, usual usual interstitial pneumonia Hamman-rich disease familial idiopathic pulmonary fibrosis fibrosing alveolitis pulmonary fibrosis, idiopathic interstitial lung disease 2 https://rarediseases.info.nih.gov/diseases/8609/idiopathic-pulmonary-fibrosis MONDO:0800030 A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood. https://github.com/monarch-initiative/mondo/issues/4167 http://orcid.org/0000-0001-5208-3432 intestinal atresia, multiple CID-MIA/early-onset IBD FIPA MINAT combined immunodeficiency-enteropathy spectrum familial intestinal polyatresia syndrome multiple intestinal atresia and/or inflammatory bowel disease with or without immunodeficiency gastrointestinal defects and immunodeficiency syndrome 1 MONDO:0800031 central hypoventilation syndrome, congenital MONDO:0800032 Any MELAS syndromein which the cause of the disease is a mutation in the MTTL1 gene. https://github.com/monarch-initiative/mondo/issues/4600 MTTL1 MELAS syndrome MELAS syndrome caused by mutation in MTTL1 MONDO:0800033 Any MELAS syndromein which the cause of the disease is a mutation in the MTTQ gene. https://github.com/monarch-initiative/mondo/issues/4600 MTTQ MELAS syndrome MELAS syndrome caused by mutation in MTTQ MONDO:0800034 Any MELAS syndromein which the cause of the disease is a mutation in the MTTH gene. https://github.com/monarch-initiative/mondo/issues/4600 MTTH MELAS syndrome MELAS syndrome caused by mutation in MTTH MONDO:0800035 Any MELAS syndromein which the cause of the disease is a mutation in the MTTK gene. https://github.com/monarch-initiative/mondo/issues/4600 MTTK MELAS syndrome MELAS syndrome caused by mutation in MTTK MONDO:0800036 Any MELAS syndromein which the cause of the disease is a mutation in the MTTC gene. https://github.com/monarch-initiative/mondo/issues/4600 MTTC MELAS syndrome MELAS syndrome caused by mutation in MTTC MONDO:0800037 Any MELAS syndromein which the cause of the disease is a mutation in the MTTS1 gene. https://github.com/monarch-initiative/mondo/issues/4600 MTTS1 MELAS syndrome MELAS syndrome caused by mutation in MTTS1 MONDO:0800038 Any MELAS syndromein which the cause of the disease is a mutation in the MTND1 gene. https://github.com/monarch-initiative/mondo/issues/4600 MTND1 MELAS syndrome MELAS syndrome caused by mutation in MTND1 MONDO:0800039 Any MELAS syndromein which the cause of the disease is a mutation in the MTND5 gene. https://github.com/monarch-initiative/mondo/issues/4600 MTND5 MELAS syndrome MELAS syndrome caused by mutation in MTND5 MONDO:0800040 Any MELAS syndromein which the cause of the disease is a mutation in the MTND6 gene. https://github.com/monarch-initiative/mondo/issues/4600 MTND6 MELAS syndrome MELAS syndrome caused by mutation in MTND6 MONDO:0800041 Any MELAS syndromein which the cause of the disease is a mutation in the MTTS2 gene. https://github.com/monarch-initiative/mondo/issues/4600 MTTS2 MELAS syndrome MELAS syndrome caused by mutation in MTTS2 MONDO:0800042 A a neonatal lethal genetic disease characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities. https://github.com/monarch-initiative/mondo/issues/4864 restrictive dermopathy fetal hypokinesia sequence due to restrictive dermopathy hyperkeratosis-contracture syndrome lethal restrictive dermopathy restrictive dermopathy 1, lethal tight skin contracture syndrome tight skin contracture syndrome, lethal restrictive dermopathy, lethal restrictive dermopathy 1 MONDO:0800043 A rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4864 https://github.com/monarch-initiative/mondo/issues/4948 STUVE-Wiedemann syndrome SWS Stuve-Wiedemann syndrome Stws Stüve-Wiedemann syndrome SJS2 STWS Schwartz-Jampel syndrome neonatal Schwartz-Jampel syndrome type 2 Schwartz-Jampel syndrome, neonatal Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome Stüve-Wiedemann dysplasia Stüve-Wiedemann/Schwartz-Jampel type 2 syndrome neonatal Schwartz-Jampel syndrome Schwartz-Jampel syndrome, type 2 Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome neonatal Schwartz-Jampel syndrome type 2 Stüve-Wiedemann syndrome 1 MONDO:0800044 A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities. https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4864 https://github.com/monarch-initiative/mondo/issues/5588 CDDG congenital disorder of deglycosylation congenital disorder of deglycosylation;CDDG CDG1V NGLY1 deficiency NGLY1-CDDG NGLY1-deficiency congenital disorder of deglycosylation 1 congenital disorder of glycosylation type IV deficiency of N-glycanase 1 CDG IV CDG IV, formerly alacrimia - choreoathetosis - liver dysfunction syndrome congenital disorder of glycosylation, type IV congenital disorder of glycosylation, type IV, formerly congenital disorder of deglycosylation 1 MONDO:0800045 https://github.com/monarch-initiative/mondo/issues/4864 AISBL autoinflammatory syndrome, familial, Behcet-like Behçet-like disease due to HA20 Behçet-like disease due to haploinsufficiency of A20 autoinflammatory syndrome, familial, Behcet-like 1 hereditary pediatric Behçet-like disease autoinflammatory syndrome, familial, Behcet-like 1 MONDO:0800046 A rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported. thyroid hormone metabolism, abnormal THMA1 short stature-delayed bone age due to thyroid hormone metabolism deficiency thyroid hormone metabolism, abnormal 1 MONDO:0800047 Any autosomal dominant macrothrombocytopenia in which the cause of the disease is a mutation in the TUBB1 gene. MACTHC1 TUBB1 autosomal dominant macrothrombocytopenia autosomal dominant macrothrombocytopenia caused by mutation in TUBB1 macrothrombocytopenia, autosomal dominant, TUBB1-related autosomal dominant macrothrombocytopenia TUBB1-related macrothrombocytopenia, isolated, 1, autosomal dominant MONDO:0800063 A skeletal dysplsia characterized by primordial dwarfism, an extreme growth deficiency disorder that has its onset during embryonic development and persists throughout life and slender bone disorder, a heterogeneous group of neonatal dwarfism syndromes, usually of unknown etiology, associated with gracile (thin) bones, multiple fractures, and prenatal or early postnatal death. https://github.com/monarch-initiative/mondo/issues/4948 primordial dwarfism and slender bone disorder MONDO:0800064 A skeletal dysplasia characterized by osteogenesis imperfecta and decreased bone density. https://github.com/monarch-initiative/mondo/issues/4948 osteogenesis imperfecta and a reduction of bone mineral density. MONDO:0800066 Any skeletal dysplasia that is characterizedby polydactyly, syndactyly and triphalangism, where a digit has three phalanges instead of two. https://github.com/monarch-initiative/mondo/issues/4948 polydactyly-syndactyly-triphalangism MONDO:0800075 Any dysostosis that involves the vertebrae, with or without involvement of the the ribs or the upper sides of the body. https://github.com/monarch-initiative/mondo/issues/4948 dysostosis with predominant vertebral with and without costal involvement MONDO:0800080 An instance of spondylodysplastic dysplasia that has a high degree of severity. https://github.com/monarch-initiative/mondo/issues/4948 severe spondylodysplastic dysplasia MONDO:0800084 https://github.com/monarch-initiative/mondo/issues/4948 primary osteodysplasia with increased bone density primary skeletal dysplasia with increased bone density sclerosing bone dysplasia primary bone dysplasia with increased bone density MONDO:0800085 https://github.com/monarch-initiative/mondo/issues/4948 dysostosis with predominant craniofacial involvement MONDO:0800086 https://github.com/monarch-initiative/mondo/issues/4948 primary osteodysplasia with multiple joint dislocations primary skeletal dysplasia with multiple joint dislocations primary bone dysplasia with multiple joint dislocations MONDO:0800087 https://github.com/monarch-initiative/mondo/issues/4948 type 11 collagen-related bone disorder MONDO:0800088 https://github.com/monarch-initiative/mondo/issues/4948 dysostosis multiplex lysosomal storage disease with skeletal involvement MONDO:0800089 https://github.com/monarch-initiative/mondo/issues/4948 primary osteodysplasia with disorganized development of skeletal components primary skeletal dysplasia with disorganized development of skeletal components primary bone dysplasia with disorganized development of skeletal components MONDO:0800090 https://github.com/monarch-initiative/mondo/issues/4948 ectrodactyly with and without other manifestations MONDO:0800091 https://github.com/monarch-initiative/mondo/issues/4948 overgrowth or tall stature syndrome with skeletal involvement MONDO:0800092 https://github.com/monarch-initiative/mondo/issues/4948 genetic inflammatory or rheumatoid-like osteoarthropathy MONDO:0800093 https://github.com/monarch-initiative/mondo/issues/4948 dysostosis with brachydactyly without extraskeletal manifestations MONDO:0800094 https://github.com/monarch-initiative/mondo/issues/4948 dysostosis with brachydactyly with extraskeletal manifestations MONDO:0800095 https://github.com/monarch-initiative/mondo/issues/4948 syndrome with synostosis or other joint formation defect MONDO:0800096 A skeletal dysplasia where osteoid becomes calcified. https://github.com/monarch-initiative/mondo/issues/4948 disorder of bone mineralization osteomalacia abnormal mineralization disorder MONDO:0800098 A retinopathy caused by heterozygous variants in the SNRNP200 gene. https://github.com/monarch-initiative/mondo/issues/4937 SNRNP200-related dominant retinopathy RP33 SNRNP200 retinitis pigmentosa retinitis pigmentosa 33 retinitis pigmentosa caused by mutation in SNRNP200 retinitis pigmentosa type 33 RP 33 SNRNP200-related dominant retinopathy MONDO:0800099 A retinopathy, typically severe, and early onset, caused by biallelic variants in the RDH12 gene. https://github.com/monarch-initiative/mondo/issues/4937 RDH12-related recessive retinopathy LCA13 Leber congenital amaurosis 13 Leber congenital amaurosis caused by mutation in RDH12 Leber congenital amaurosis type 13 RDH12 Leber congenital amaurosis retinitis pigmentosa 53 RDH12-related recessive retinopathy MONDO:0800100 A retinopathy caused by gain of function, heterozygous variants in the RDH12 gene, and associated with late onset retinopathy with a mild phenotype, characterized by nyctalopia and visual field loss, but relatively preserved central vision. https://github.com/monarch-initiative/mondo/issues/4937 RDH12-related dominant retinopathy RDH12-related dominant retinopathy MONDO:0800101 A retinopathy, typically severe and early onset, caused by biallelic variants in the NMNAT1 gene. Some patients have been reported to have spondyloepiphyseal dysplasia syndrome, including sensorineural hearing loss, intellectual disability in addition to retinopathy. However, additional studies are needed to definitively describe this disease association. https://github.com/monarch-initiative/mondo/issues/4937 NMNAT1-related retinopathy LCA9 Leber congenital amaurosis 9 Leber congenital amaurosis caused by mutation in NMNAT1 Leber congenital amaurosis type 9 NMNAT1 Leber congenital amaurosis SHILCA SHILCA Syndrome spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis amaurosis congenita of Leber, type 9 NMNAT1-related retinopathy MONDO:0800102 A retinopathy, typically described as achromatopsia, caused by biallelic variants in the CNGA3 gene. https://github.com/monarch-initiative/mondo/issues/4937 CNGA3-related retinopathy ACHM2 CNGA3 achromatopsia RMCH2 achromatopsia 2 achromatopsia caused by mutation in CNGA3 achromatopsia type 2 rod monochromacy 2 rod monochromatism 2 colorblindness, total CNGA3-related retinopathy MONDO:0800103 Any COACH syndrome in which the cause of the disease is a variation in the TMEM67 gene. https://github.com/monarch-initiative/mondo/issues/4986 cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis COACH syndrome 1 MONDO:0800104 Any immunodeficiency disease which the cause of the disease is a mutation in the PTPRC gene. https://github.com/monarch-initiative/mondo/issues/5160 IMD105 SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive immunodeficiency 105 MONDO:0800105 A psychiatric disorder featuring stupor, posturing, and echophenomena. https://github.com/monarch-initiative/mondo/issues/5199 https://github.com/monarch-initiative/mondo/issues/5537 catatonia MONDO:0800106 A mental disorder that includes conduct disorder (CD), oppositional defiant disorder (ODD), and attention Deficit Hyperactivity Disorder (ADHD). Features may include frequent aggression, deceitfulness, and defiance, and often persist through the lifespan. https://github.com/monarch-initiative/mondo/issues/5199 disruptive disorder disruptive behavior disorder MONDO:0800107 https://github.com/monarch-initiative/mondo/issues/5235 anterior deviation infundibular septum MONDO:0800108 https://github.com/monarch-initiative/mondo/issues/5235 cleft tricuspid valve cleft leaflet of tricuspid valve MONDO:0800109 A interstial lung disease characterized by the presence of persistent or intermittent tachypnea (usually noticed in neonatal period or after an acute infection for the first time in first months of life), crackles in 86 %, retractions in 82%, failure to thrive in 66%, chest wall abnormalities in 22% and hypoxemia or desaturation in 88%. https://github.com/monarch-initiative/mondo/issues/5261 PTI persistent tachypnoe of infancy MONDO:0800110 Persistent tachypnoe of infancy that presents with additional minor abnormalities upon scanning, including ground-glass opacities in other locations, focal consolidations, parenchymal cysts or bronchial wall thickening (N=80; 37%). https://github.com/monarch-initiative/mondo/issues/5261 PTI, aberrant persistent tachypnoe of infancy, aberrant MONDO:0800111 Persistent tachypnoe of infancy that presents with with no other airway or parenchymal abnormalities upon scanning (N=80; 63%). https://github.com/monarch-initiative/mondo/issues/5261 PTI, usual persistent tachypnoe of infancy, usual MONDO:0800112 A type of asthma that isn't related to an allergy trigger like pollen or dust, and is less common than atopic asthma. https://github.com/monarch-initiative/mondo/issues/5261 instrinsic asthma non-allergic asthma non-atopic asthma MONDO:0800113 A type of vasculitis that is comprised of vasculitides that present with necrosis. https://github.com/monarch-initiative/mondo/issues/5261 systemic vasculitis necrotizing vasculitis MONDO:0800114 A polyclonal hyperplasia of bronchiolar associated lymphoid tissue characterized by the development of lymphoid follicles with germinal centers in walls of the small airways. https://github.com/monarch-initiative/mondo/issues/5261 follicular bronchiolits MONDO:0800117 A botromycosis that involves the skin and subcutaneous tissue (it is a more common type). https://github.com/monarch-initiative/mondo/issues/5261 cutaneous botryomycosis MONDO:0800118 A botryomycosis that involves internal organs such as lungs, liver, or brain. It is a rare disease and has been described mainly in patients with underlying diseases such as diabetes mellitus, cystic fibrosis, or HIV infection. It is most commonly affecting the lungs, although involvement of other organs including liver, spleen, kidney, and brain has also been described. https://github.com/monarch-initiative/mondo/issues/5261 pulmonary botromycosis visceral botryomycosis MONDO:0800119 An irreversible obstructive lung disease characterized by subepithelial inflammation and fibrotic narrowing of the bronchioles after lower respiratory tract infection during childhood, especially early childhood. Although diagnosis of PIBO should be confirmed by histopathology, it is generally based on history and clinical findings. Irreversible airway obstruction is demonstrated by decreased forced expiratory volume in 1 second with an absent bronchodilator response, and by mosaic perfusion, air trapping, and/or bronchiectasis on computed tomography images. However, lung function tests using spirometry are not feasible in young children, and most cases of PIBO develop during early childhood. https://github.com/monarch-initiative/mondo/issues/5261 PIBO postinfectious bronchiolitis obliterans MONDO:0800120 A rare lung condidtion characterized by often predominantly unilateral lung hyperlucency and air trapping. The condition is a post-infectious form of bronchiolitis obliterans and typically follows a viral respiratory infection in infancy and childhood. Adenovirus infection is considered the most usual epidemiology. In SJS, the involved lung or portion of the lung does not grow normally and is slightly smaller than the opposite lung: in particular, peripheral branches of the pulmonary vessels do not develop, and vasculature is arreseted at the stage at which the infection occurred. Patients respond well to management with bronchodilators, even though this is not primarily a bronchial abnormality. https://github.com/monarch-initiative/mondo/issues/5261 SJS Swyer-James-(Macleod)-Syndrome Mac-Leod-Swyer-James-Syndrome MONDO:0800121 An interstitial lung disease specific to infancy that is characterized by tachypnea at birth and persistent disease, diffuse interstitial thickening due to pale oval and spindle-shaped histiocytes without scarring. https://github.com/monarch-initiative/mondo/issues/5261 cellular interstitial pneumonitis MONDO:0800123 An interstitial lung disease characterized histologically by fibrosis and/or inflammation confined to the alveolar interstitium around bronchovascular bundles, overlapping with peribronchial metaplasia, fibrosis in some series and the lack of interstitial granulomas. https://github.com/monarch-initiative/mondo/issues/5261 BPIP bronchiolocentric pattern of interstitial pneumonia MONDO:0800124 A rare concurrent association of idiopathic pulmonary hemosiderosis and celiac disease, and is typically seen in children under the age of 15. https://github.com/monarch-initiative/mondo/issues/5261 Lane Hamilton syndrome MONDO:0800125 A necrotizing vasculitis characterized by widespread small-vessel giant cell angitis and extravascular granulomas. https://github.com/monarch-initiative/mondo/issues/5261 disseminated visceral giant cell arteristic disseminated visceral giant cell arteritis disseminated visceral giant cell angiitis MONDO:0800126 A rare lung disorder characterized by ectopic bone formation within lung parenchyma. DPO can be idiopathic or associated with a variety of cardiovascular, respiratory diseases or other disorders. There are mainly two forms of DPO: nodular and dendriform. https://github.com/monarch-initiative/mondo/issues/5261 dystrophic pulmonary ossification MONDO:0800127 A rare hereditary amyloidosis that incorporates deposition of amyloid microfibril material in the lung parenchyma. https://github.com/monarch-initiative/mondo/issues/5261 pulmonary amyloidosis MONDO:0800128 Any combined immunodeficiency due to a deficiency in the POLE2 gene. https://github.com/monarch-initiative/mondo/issues/5261 combined immunodeficiency due to POLE2 deficiency MONDO:0800129 An autoinflammatory syndrome characterized by the onset of systemic autoinflammation in the first months of life. Features include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional manifestations may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy. https://github.com/monarch-initiative/mondo/issues/5261 NEMO deleted exon 5 syndrome autoinflammatory syndrome, X-linked autoinflammatory disease, X-linked MONDO:0800130 An autoinflammatory syndrome characterized by onset of various autoimmune features usually in the first decades of life, although later onset has been reported. Typical features include autoimmune cytopenia, hemolytic anemia, thrombocytopenia, and lymphadenopathy. More variable features may include autoimmune thyroiditis, psoriasis or eczema, nephritis, hepatitis, and symptoms of systemic lupus erythematosus (SL). Some patients may have recurrent infections or exacerbation of the disease with acute infection. Laboratory studies show variable findings, often decreased numbers of naive B cells, lymphopenia with skewed subsets, hypogammaglobulinemia, presence of autoantibodies, and a hyperinflammatory state. The disorder shows autosomal dominant inheritance with incomplete penetrance. https://github.com/monarch-initiative/mondo/issues/5261 autoinflammatory syndrome with immunodeficiency MONDO:0800131 An immunologic disorder characterized by recurrent mainly sinopulmonary infections associated with increased serum IgE. The phenotype is variable, even within families. Some patients have onset of symptoms in early childhood and develop complications, including bronchiectasis or hemoptysis, whereas others have later onset of less severe infections. Immunologic workup usually shows normal leukocyte levels, although some patients may demonstrate alterations in lymphocyte subsets, including T cells. Affected individuals also have variable skeletal abnormalities, including high-arched palate, hyperextensible joints, scoliosis, and bone fractures. The IL6ST mutations are loss-of-function, although the truncated mutant proteins are expressed and interfere with the wildtype protein in a dominant-negative manner by disrupting IL6 and IL11 signaling. https://github.com/monarch-initiative/mondo/issues/5261 hyper-IgE recurrent infection syndrome 4A, autosomal dominant MONDO:0800132 An autosomal recessive disorder characterized by severe anemia and thrombocytopenia apparent from early infancy, hepatosplenomegaly, and recurrent fevers associated with a hyperinflammatory state. Additional systemic features may include chronic diarrhea, proteinuria with renal disease, liver fibrosis with elevated liver enzymes, deforming arthropathy, and vasculitic skin lesions. Some patients may have motor delay or learning difficulties associated with subcortical white matter lesions on brain imaging. Laboratory studies show increased levels of proinflammatory cytokines and increased expression of interferon-stimulated genes (ISGs), consistent with a type I interferonopathy. https://github.com/monarch-initiative/mondo/issues/5261 autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency MONDO:0800133 A respiratory malformation characterized by the presence of both bronchi (albeit rudimentary) and alveoli in an under-developed lobe. Both the size and the weight of the lung are reduced. The true prevalence is not well known (1.4% of all births according to Knox et al. 13), but in cases of premature rupture of membranes at 15-28 weeks gestation, the reported prevalence of pulmonary hypoplasia ranges from 9 to 28%. Factors that contribute to pulmonary hypoplasia include adequate volume of the thoracic cavity, pulmonary fluid dynamics, and abnormal fetal breathing movements. https://github.com/monarch-initiative/mondo/issues/5261 pulmonary hypoplasia MONDO:0800134 An immunodeficiency disease caused by a variation in the CRACR2A gene. https://github.com/monarch-initiative/mondo/issues/5261 primary immunodeficiency due to calcium channel deficiency MONDO:0800135 Any interstitial lung disease specific to childhood caused by a loss-of-function variation in the FLNA gene. Female children are reported more often. Rare male patients with loss-of-function FLNA mutation-associated lung disease with residual protein function can survive into infancy with a severe form of the phenotype. https://github.com/monarch-initiative/mondo/issues/5261 congenital emphysematous lung disease due to Filamin A loss-of-function variant MONDO:0800136 Any non-severe combined immunodeficiency caused by a deficiency in the COPG1 gene. https://github.com/monarch-initiative/mondo/issues/5261 non-severe combined immunodeficiency due to COPG1 deficiency MONDO:0800137 A monogenic autoinflammatory disorder caused by a de novo activating mutation, p.Tyr515∗, in hematopoietic cell kinase (HCK). The disease is characterized by cutaneous vasculitis and chronic pulmonary inflammation that progresses to fibrosis. https://github.com/monarch-initiative/mondo/issues/5261 early-onset pulmonary and cutaneous vasculitis MONDO:0800138 An autoimmune disease caused by a loss-of-function variation in the IKZF1/IKAROSgene. Leukocytes of patients exhibited specific defects including impaired IL-2 production by T cells, T helper (TH) skewing toward TH2, low numbers of regulatory T cells (Treg), eosinophilia, and abnormal PC proliferation. https://github.com/monarch-initiative/mondo/issues/5261 multisystem autoimmune disease due to IKAROS gain of function MONDO:0800139 A non-severe combined immunodeficiency caused by a loss-of-function variation in the IKZF2 gene that is characterized by recurrent upper respiratory infections, thrush and mucosal ulcers, and chronic lymphadenopathy. https://github.com/monarch-initiative/mondo/issues/5261 HELIOS deficiency MONDO:0800140 Any non-severe combined immunodeficiency in which the cause of the disease is variation in the ITPKB gene. https://github.com/monarch-initiative/mondo/issues/5261 ITPKB deficiency MONDO:0800141 Any non-severe combined immunodeficiency in which the cause of the disease is variation in the MAN2B2 gene. https://github.com/monarch-initiative/mondo/issues/5261 MAN2B2 deficiency MONDO:0800142 An immunodeficiency disease caused by a variation in MAPK8, the gene encoding c-Jun N-terminal kinase 1 (JNK1), that is characterized by chronic mucocutaneous candidiasis and a connective tissue disorder that clinically overlaps with Ehlers-Danlos syndrome (EDS). https://github.com/monarch-initiative/mondo/issues/5261 JNK1 haploinsufficiency (causing combination of chronic mucocutaneous candidiasis and connective tissue disease) chronic mucocutaneous candidiasis and connective tissue disease due to JNK1 haploinsufficiency MONDO:0800143 Cytomegalovirus pneumonia due to variant in the NOS2 gene. https://github.com/monarch-initiative/mondo/issues/5261 cytomegalovirus pneumonia due to NOS2 deficiency MONDO:0800144 An autoimmune disease that is characterized by a lack of PD-1 on patient peripheral blood mononuclear cells (PBMCs) and reduced IFN production in response to mycobacterial stimuli. https://github.com/monarch-initiative/mondo/issues/5261 autoimmune pulmonary disease due to PD-1 deficiency MONDO:0800145 Any non-severe combined immunodeficiency in which the cause of the disease is variation in the POLD1/POLD2 gene. https://github.com/monarch-initiative/mondo/issues/5261 non-severe combined immunodeficiency due to polymerase delta deficiency MONDO:0800146 Any agammaglobulinemia in which the cause of the disease is autosomal recessive deficiency in the BOB1 gene. https://github.com/monarch-initiative/mondo/issues/5261 agammaglobulinemia, autosomal recessive, due to BOB1 deficiency MONDO:0800147 Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is an autosomal recessive variation in the RHOG gene. https://github.com/monarch-initiative/mondo/issues/5261 hemophagocytic lymphohistiocytosis due to RhoG deficiency MONDO:0800148 Any autoinflammatory syndrome in which the cause of the disease is an autosomal recessive variation in the TBK1 gene. https://github.com/monarch-initiative/mondo/issues/5261 autoinflammatory syndrome due to TBK1 deficiency MONDO:0800149 Any commonn variable immunodeficiency in which the cause of the disease is an autosomal recessive variation in the TNFS13 gene. https://github.com/monarch-initiative/mondo/issues/5261 immunodeficiency, common variable, due to APRIL deficiency MONDO:0800152 An inherited disorder of carbohydrate metabolism that is has its basis in the disruption of galactose and/or fructose metabolic process. https://github.com/monarch-initiative/mondo/issues/4985 disorder of galactose and fructose metabolism MONDO:0800153 A disorder of amino acid metabolism that has its basis in the disruption of the urea cycle or an inherited hyperammonemia (any specific disease which causes an inherited increased concentration of ammonia in the blood). https://github.com/monarch-initiative/mondo/issues/4985 https://github.com/monarch-initiative/mondo/issues/5378 urea cycle disorder or inherited hyperammonemia MONDO:0800154 A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of sulfur-containing amino acids and/or hydrogen sulfide. https://github.com/monarch-initiative/mondo/issues/4985 inborn disorder of the metabolism of sulfur-containing amino acids and hydrogen sulfide MONDO:0800155 A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of glycine and/or serine. https://github.com/monarch-initiative/mondo/issues/4985 inborn disorder of glycine and serine metabolism MONDO:0800156 A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of ornithine, proline and/or hydroxyproline. https://github.com/monarch-initiative/mondo/issues/4985 inborn disorder of ornithine, proline and hydroxyproline metabolism MONDO:0800157 A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of lysine, hydroxylysine, and/or tryptophan. https://github.com/monarch-initiative/mondo/issues/4985 inborn disorder of lysine, hydroxylysine, and tryptophan metabolism MONDO:0800158 A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of glutamate/glutamine and aspartate/asparagine. https://github.com/monarch-initiative/mondo/issues/4985 inborn disorder of glutamate/glutamine and aspartate/asparagine metabolism MONDO:0800159 An inherited metabolic disease that has its basis in the disruption of the polyamine metabolic process. https://github.com/monarch-initiative/mondo/issues/4985 disorder of polyamine metabolism MONDO:0800166 http://orcid.org/0000-0001-5208-3432 Knobloch syndrome MONDO:0800167 https://github.com/monarch-initiative/mondo/issues/4521 http://orcid.org/0000-0001-5208-3432 KNO1 KNOBLOCH syndrome 1 Knobloch syndrome type 1 Knobloch syndrome, type 1 Knobloch-Layer syndrome retinal detachment-occipital encephalocele syndrome KNO myopia retinal detachment encephalocele retinal detachment and occipital encephalocele Knobloch syndrome 1 https://rarediseases.info.nih.gov/diseases/380/knobloch-syndrome MONDO:0800174 An inherited susceptibility or predisposition to developing encephalitis, acute, infection-induced. https://github.com/monarch-initiative/mondo/issues/4882 encephalitis, acute, infection-induced, susceptibility to MONDO:0800175 A rare, cardiac condition characterized by severely decreased cardiac output, hypoperfusion and end-organ dysfunction, in the presence of adequate intravascular volume. The clinical presentation is variable and may range from subtle hemodynamic alterations to overt cardiovascular collapse. Commonly reported features include dyspnea, crackles, elevated jugular venous pressure, altered mental state, abnormal pulse pressure, oliguria, cold extremities, and increased serum lactate levels. https://github.com/monarch-initiative/mondo/issues/5462 cardiogenic shock MONDO:0800176 Local and/or systemic toxicity resulting from a bite from a black widow spider (Latrodectus species). https://github.com/monarch-initiative/mondo/issues/5463 black widow envenomation latrodectism poisoning caused by black widow venom poisoning due to black widow spider toxic effect of venom of black widow black widow spider envenomation MONDO:0800177 An injury to the skin and/or its underlying tissues that results from exposure of the affected area to extreme cold. https://github.com/monarch-initiative/mondo/issues/5469 frostbite MONDO:0800178 Progressive, bilateral, and irreversible sensorineural hearing loss as a frequently encountered side effect of platinum-based chemotherapy such as cisplatin and carboplatin. https://github.com/monarch-initiative/mondo/issues/5470 deafness, platinum-induced platinum-related ototoxicity platinum-induced ototoxicity MONDO:0800179 A bacterial infection of the joint that is a complication occurring in 1% to 2% of primary arthroplasties. https://github.com/monarch-initiative/mondo/issues/5471 periprosthetic joint infection MONDO:0800180 Any inherited porphyria in which the cause of the disease is monoallelic or biallelic variants in the CPOX gene. https://github.com/monarch-initiative/mondo/issues/5474 Per criteria outlined by the ClinGen Lumping and Splitting Working Group, the molecular mechanism (CPOX loss-of-function) was found to be consistent between the harderoporphyria cases and hereditary coproporphyria cases. In addition, the phenotypic differences between the biallelic and monoallelic cases appeared to represent a single spectrum of disease. Therefore, cases caused by inherited CPOX variants have been lumped into a single disease entity referred to as CPOX-related hereditary coproporphyria, with a semidominant mode of inheritance. CPOX-related hereditary coproporphyria MONDO:0800181 Any primary mitochondrial disease in which the cause of the disease is monoallelic or biallelic variants in the OPA1 gene. While optic atrophy is present in most affected cases, OPA1 is a mitochondrial protein and thus features of this disease include abnormal mitochondrial morphology and multiple mitochondrial DNA deletions, and can affect other organ systems and. Extraocular features can include progressive sensorineural hearing impairment, cognitive impairment, peripheral neuropathy, myopathy, ragged-red muscle fibers, and exercise-induced lactic acidemia, while additional ocular features can include progressive visual loss, central scotoma, and color vision abnormalities. https://github.com/monarch-initiative/mondo/issues/5475 Per criteria outlined by the ClinGen Lumping and Splitting Working Group, we found the molecular mechanism (loss of function variants in OPA1) to be consistent among apparently unrelated patients, while related patients harboring either biallelic or monoallelic OPA1 variants were affected with optic atrophy. The phenotypic variability between them appeared to represent a spectrum of disease rather than separate disease entities. Therefore, affected cases harboring monoallelic or biallelic OPA1 variants have been lumped into a single disease entity, referred to as OPA1-related optic atrophy with or without extraocular features. OPA1-related optic atrophy with or without extraocular features MONDO:0800182 Any primary hereditary glaucoma in which the cause of the disease is a mutation in the TEK gene. https://github.com/monarch-initiative/mondo/issues/5476 Per criteria outlined by the ClinGen Lumping & Splitting Working Group, the molecular mechanism (loss-of-function) was found to be consistent among patients diagnosed with primary congenital glaucoma-3E (MONDO:0014998, MIM #617272), while their shared phenotypes indicated a spectrum of disease. However, in order to acknowledge the broader spectrum of onset and variable expressivity of the disease entity, this group proposes to remove the term "congenital" and recommend the name TEK-related primary glaucoma. TEK-related primary glaucoma MONDO:0800183 Any eye disorder in which the cause of the disease is a mutation in the PAX6 gene. https://github.com/monarch-initiative/mondo/issues/5477 Per criteria outlined by the ClinGen Lumping and Splitting Working Group, we found that the diverse phenotypes associated with variants in PAX6 have all been associated with an autosomal dominant mode of inheritance. The high proportion of null and apparent loss-of-function PAX6 variants across all of these phenotypes indicates a common haploinsufficiency mechanism. The phenotypic variability among them is consistent with a single spectrum of disease. PAX6-related ocular dysgenesis MONDO:0800187 An inherited susceptibility or predisposition to developing viral infections. https://github.com/monarch-initiative/mondo/issues/4882 IMD83 immunodeficiency 83, susceptibility to viral infections MONDO:0800188 An inherited susceptibility or predisposition to developing malignant hyperthermia. https://github.com/monarch-initiative/mondo/issues/4882 malignant hyperthermia, susceptibility to MONDO:0800195 https://github.com/monarch-initiative/mondo/issues/5507 AAAS achalasia-alacrima syndrome MONDO:0800196 https://github.com/monarch-initiative/mondo/issues/5507 ACHM5 achromatopsia 5 MONDO:0800197 https://github.com/monarch-initiative/mondo/issues/5507 ACHM6 achromatopsia 6 MONDO:0800198 https://github.com/monarch-initiative/mondo/issues/5507 AU alopecia universalis MONDO:0800199 https://github.com/monarch-initiative/mondo/issues/5507 ANCR Angelman syndrome chromosome region MONDO:0800200 https://github.com/monarch-initiative/mondo/issues/5507 DA2B4 arthrogryposis, distal, type 2B4 MONDO:0800201 https://github.com/monarch-initiative/mondo/issues/5507 MPB baldness, male pattern MONDO:0800204 https://github.com/monarch-initiative/mondo/issues/5507 CDLSMD calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia MONDO:0800206 https://github.com/monarch-initiative/mondo/issues/5507 EBDSC epidermolysis bullosa dystrophica with subcorneal cleavage MONDO:0800207 https://github.com/monarch-initiative/mondo/issues/5507 SFNP neuropathy, small fiber MONDO:0800209 https://github.com/monarch-initiative/mondo/issues/5507 CFEOM3B fibrosis of extraocular muscles, congenital, 3b MONDO:0800210 https://github.com/monarch-initiative/mondo/issues/5507 GLC1L glaucoma 1, open angle, l MONDO:0800215 https://github.com/monarch-initiative/mondo/issues/5507 MCD multicentric Castleman disease, susceptibility to MONDO:0800222 https://github.com/monarch-initiative/mondo/issues/5507 PVOP1 pelvic organ prolapse, susceptibility to, 1 MONDO:0800224 https://github.com/monarch-initiative/mondo/issues/5507 ALS13 amyotrophic lateral sclerosis, susceptibility to, 13 MONDO:0800226 https://github.com/monarch-initiative/mondo/issues/5507 https://github.com/monarch-initiative/mondo/issues/5756 STBMS1 strabismus, susceptibility to, 1 MONDO:0800250 https://github.com/monarch-initiative/mondo/issues/5507 GRDX2 Graves disease, susceptibility to, X-linked 2 MONDO:0800261 https://github.com/monarch-initiative/mondo/issues/5507 AITD5 autoimmune thyroid disease, susceptibility to, 5 MONDO:0800268 https://github.com/monarch-initiative/mondo/issues/5507 AVSD1 atrioventricular septal defect, susceptibility to, 1 MONDO:0800271 https://github.com/monarch-initiative/mondo/issues/5507 EJM6 epilepsy, juvenile myoclonic, susceptibility to, 6 MONDO:0800274 https://github.com/monarch-initiative/mondo/issues/5507 AIS5 autoimmune disease, susceptibility to, 5 MONDO:0800275 https://github.com/monarch-initiative/mondo/issues/5507 AUTS14A autism, susceptibility to, 14a MONDO:0800279 https://github.com/monarch-initiative/mondo/issues/5507 EIG6 epilepsy, idiopathic generalized, susceptibility to, 6 MONDO:0800287 https://github.com/monarch-initiative/mondo/issues/5507 AUTS14B autism, susceptibility to, 14b MONDO:0800290 https://github.com/monarch-initiative/mondo/issues/5507 LFL Li-fraumeni-like syndrome MONDO:0800291 https://github.com/monarch-initiative/mondo/issues/5507 CP1 crossed polydactyly, type I MONDO:0800294 https://github.com/monarch-initiative/mondo/issues/5507 PERM progressive encephalomyelitis with rigidity MONDO:0800296 https://github.com/monarch-initiative/mondo/issues/5507 MRCS2 microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2 MONDO:0800297 https://github.com/monarch-initiative/mondo/issues/5507 LINCL neuronal ceroid lipofuscinosis, late infantile MONDO:0800298 https://github.com/monarch-initiative/mondo/issues/5507 CG2 peroxisome biogenesis disorder, complementation group 2 MONDO:0800299 https://github.com/monarch-initiative/mondo/issues/5507 CMEMS myopathy, congenital, with excess of muscle spindles MONDO:0800300 https://github.com/monarch-initiative/mondo/issues/5507 BADS black locks with albinism and deafness syndrome MONDO:0800301 https://github.com/monarch-initiative/mondo/issues/5507 FARR Friedreich ataxia with retained reflexes MONDO:0800302 https://github.com/monarch-initiative/mondo/issues/5507 GSD1D glycogen storage disease Id MONDO:0800303 https://github.com/monarch-initiative/mondo/issues/5507 https://github.com/monarch-initiative/mondo/issues/5811 2023-04-01 HPPN Reason: duplicate. This will be merged with MONDO:0016605 perinatal lethal hypophosphatasia hypophosphatasia, perinatal lethal MONDO:0800304 https://github.com/monarch-initiative/mondo/issues/5507 HSAN2D neuropathy, hereditary sensory and autonomic, type IId MONDO:0800305 https://github.com/monarch-initiative/mondo/issues/5507 MMM myelofibrosis with myeloid metaplasia MONDO:0800306 https://github.com/monarch-initiative/mondo/issues/5507 EPM2B epilepsy, progressive myoclonic, 2b MONDO:0800307 https://github.com/monarch-initiative/mondo/issues/5507 DLCD de la Chapelle dysplasia MONDO:0800308 https://github.com/monarch-initiative/mondo/issues/5507 OAWA orotic aciduria without megaloblastic anemia MONDO:0800310 https://github.com/monarch-initiative/mondo/issues/5507 RPRGL4 pregnancy loss, recurrent, 4 MONDO:0800311 https://github.com/monarch-initiative/mondo/issues/5507 CUAVD vas deferens, congenital unilateral aplasia of MONDO:0800312 https://github.com/monarch-initiative/mondo/issues/5507 ARWH1 woolly hair, autosomal recessive 1, with or without hypotrichosis MONDO:0800313 https://github.com/monarch-initiative/mondo/issues/5507 XPF/CS xeroderma pigmentosum, type F/cockayne syndrome MONDO:0800314 https://github.com/monarch-initiative/mondo/issues/5507 XPG/CS xeroderma pigmentosum, type G/cockayne syndrome MONDO:0800316 https://github.com/monarch-initiative/mondo/issues/5507 https://github.com/monarch-initiative/mondo/issues/5809 2023-04-01 CADDS Reason: duplicate. This will be merged with MONDO:0018247 CADDS contiguous ABCD1/DXS1375E deletion syndrome MONDO:0800317 https://github.com/monarch-initiative/mondo/issues/5507 POF4 premature ovarian failure 4 MONDO:0800318 https://github.com/monarch-initiative/mondo/issues/5507 EDMD6 Emery-Deifuss muscular dystrophy 6, X-linked MONDO:0800319 https://github.com/monarch-initiative/mondo/issues/5507 COD5 cone dystrophy 5, X-linked MONDO:0800320 https://github.com/monarch-initiative/mondo/issues/5507 COD1 cone dystrophy 1, X-linked MONDO:0800321 https://github.com/monarch-initiative/mondo/issues/5507 CHTD1 congenital heart defects, multiple types, 1, X-linked MONDO:0800322 https://github.com/monarch-initiative/mondo/issues/5507 MOVC membranous obstruction of inferior vena cava MONDO:0800323 https://github.com/monarch-initiative/mondo/issues/5507 LQT4 long QT syndrome 4 MONDO:0800324 https://github.com/monarch-initiative/mondo/issues/5507 MCOPCB8 microphthalmia, isolated, with coloboma 8 MONDO:0800326 https://github.com/monarch-initiative/mondo/issues/5507 CORD14 cone-rod dystrophy 14 MONDO:0800328 https://github.com/monarch-initiative/mondo/issues/5507 RP94 retinitis pigmentosa 94, variable age at onset MONDO:0800329 https://github.com/monarch-initiative/mondo/issues/5507 FEB3A febrile seizures, familial, 3a MONDO:0800330 https://github.com/monarch-initiative/mondo/issues/5507 EJM2 myoclonic epilepsy, juvenile, 2 MONDO:0800331 https://github.com/monarch-initiative/mondo/issues/5507 TNH hyperglycinemia, transient neonatal MONDO:0800335 https://github.com/monarch-initiative/mondo/issues/5507 FHM4 migraine, familial hemiplegic, 4 MONDO:0800337 https://github.com/monarch-initiative/mondo/issues/5507 ATIN acute tubulointerstitial nephritis MONDO:0800339 https://github.com/monarch-initiative/mondo/issues/5507 SNEL laryngospasm, severe neonatal episodic MONDO:0800340 https://github.com/monarch-initiative/mondo/issues/5507 SAD, susceptibility to seasonal affective disorder, susceptibility to MONDO:0800341 https://github.com/monarch-initiative/mondo/issues/5507 CAPM1 cap myopathy 1 MONDO:0800342 https://github.com/monarch-initiative/mondo/issues/5507 CAPM2 cap myopathy 2 MONDO:0800343 https://github.com/monarch-initiative/mondo/issues/5507 https://github.com/monarch-initiative/mondo/issues/5810 2023-04-01 DRRD Reason: duplicate. This will be merged with MONDO:0016202 autosomal dominant rhegmatogenous retinal detachment rhegmatogenous retinal detachment, autosomal dominant MONDO:0800344 https://github.com/monarch-initiative/mondo/issues/5507 BDSDO brachydactyly-syndactyly-oligodactyly syndrome MONDO:0800345 https://github.com/monarch-initiative/mondo/issues/5507 ATFB17 atrial fibrillation, familial, 17 MONDO:0800346 https://github.com/monarch-initiative/mondo/issues/5507 LVNC9 left ventricular noncompaction 9 MONDO:0800347 https://github.com/monarch-initiative/mondo/issues/5507 CMH23 cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction MONDO:0800348 https://github.com/monarch-initiative/mondo/issues/5507 RP53 retinitis pigmentosa 53 MONDO:0800349 https://github.com/monarch-initiative/mondo/issues/5507 ATFB16 atrial fibrillation, familial, 16 MONDO:0800350 https://github.com/monarch-initiative/mondo/issues/5507 LVNC4 left ventricular noncompaction 4 MONDO:0800351 https://github.com/monarch-initiative/mondo/issues/5507 LVNC5 left ventricular noncompaction 5 MONDO:0800352 https://github.com/monarch-initiative/mondo/issues/5507 RP65 retinitis pigmentosa 65 MONDO:0800353 https://github.com/monarch-initiative/mondo/issues/5507 CDG1BB congenital disorder of glycosylation, type Ibb MONDO:0800354 https://github.com/monarch-initiative/mondo/issues/5507 FEB3B febrile seizures, familial, 3b MONDO:0800355 https://github.com/monarch-initiative/mondo/issues/5507 PSMNST parasomnia, sleep terrors type MONDO:0800356 https://github.com/monarch-initiative/mondo/issues/5507 SRTD7/20 short-rib thoracic dysplasia 7/20 with polydactyly, digenic MONDO:0800357 https://github.com/monarch-initiative/mondo/issues/5507 PCZH hyperpigmentation, progressive cribriform and zosteriform MONDO:0800358 https://github.com/monarch-initiative/mondo/issues/5507 SCZD17 schizophrenia 17 MONDO:0800359 https://github.com/monarch-initiative/mondo/issues/5507 RP64 retinitis pigmentosa 64 MONDO:0800363 https://github.com/monarch-initiative/mondo/issues/5507 JBTS19 Joubert syndrome 19 MONDO:0800364 https://github.com/monarch-initiative/mondo/issues/5507 CG3 peroxisome biogenesis disorder, complementation group 3 MONDO:0800365 https://github.com/monarch-initiative/mondo/issues/5507 CGK peroxisome biogenesis disorder, complementation group K MONDO:0800366 https://github.com/monarch-initiative/mondo/issues/5507 DKCA4 dyskeratosis congenita, autosomal dominant 4 MONDO:0800367 https://github.com/monarch-initiative/mondo/issues/5507 CMD1LL cardiomyopathy, dilated, 1LL MONDO:0800368 https://github.com/monarch-initiative/mondo/issues/5507 CMD1MM cardiomyopathy, dilated, 1MM MONDO:0800369 https://github.com/monarch-initiative/mondo/issues/5507 PARK19B parkinson disease 19B, early-onset MONDO:0800370 https://github.com/monarch-initiative/mondo/issues/5507 DKCB7 dyskeratosis congenita, autosomal recessive 7 MONDO:0800371 https://github.com/monarch-initiative/mondo/issues/5507 RCM5 cardiomyopathy, familial restrictive, 5 MONDO:0800372 https://github.com/monarch-initiative/mondo/issues/5507 JBTS29 Joubert syndrome 29 MONDO:0800373 A poisoning that is caused by exposure to carbon monoxide. https://github.com/monarch-initiative/mondo/issues/5528 CO Poisoning carbon monoxide poisoning MONDO:0800374 https://github.com/monarch-initiative/mondo/issues/5507 CPVT6 ventricular tachycardia, catecholaminergic polymorphic 6 MONDO:0800375 https://github.com/monarch-initiative/mondo/issues/5507 DEND1 developmental delay, epilepsy, and neonatal diabetes 1 MONDO:0800376 https://github.com/monarch-initiative/mondo/issues/5507 DEND2 developmental delay, epilepsy, and neonatal diabetes 2 MONDO:0800377 https://github.com/monarch-initiative/mondo/issues/5507 ACTH-independent adrenal Cushing syndrome, somatic MONDO:0800378 https://github.com/monarch-initiative/mondo/issues/5507 17,20-lyase deficiency, isolated MONDO:0800379 https://github.com/monarch-initiative/mondo/issues/5507 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete MONDO:0800380 https://github.com/monarch-initiative/mondo/issues/5507 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial MONDO:0800381 https://github.com/monarch-initiative/mondo/issues/5507 46,XX true hermaphroditism, SRY-positive MONDO:0800382 https://github.com/monarch-initiative/mondo/issues/5507 JBTS11 Joubert syndrome 11 MONDO:0800383 https://github.com/monarch-initiative/mondo/issues/5507 JBTS34 Joubert syndrome 34 MONDO:0800384 A heavy metal poisoning that is caused by exposure to cessium. https://github.com/monarch-initiative/mondo/issues/5528 cessium poisoning MONDO:0800385 A heavy metal poisoning that is caused by exposure to iron. Iron toxicity is classified as corrosive or cellular. Ingested iron can cause direct caustic injury to the gastrointestinal mucosa, resulting in nausea, vomiting, abdominal pain, and diarrhea. https://github.com/monarch-initiative/mondo/issues/5528 iron overload iron toxicity iron poisoning MONDO:0800386 A poisoning that is caused by exposure to organophosphate. https://github.com/monarch-initiative/mondo/issues/5528 insecticide poisoning organophosphate exposure organophosphate poisoning MONDO:0800387 A poisoning that is caused by exposure to sulfur mustard. The effects of mustard poisoning may be local, systemic, or both, depending on environmental conditions, exposed organs, and the extent and duration of exposure. The toxic effects of mustard include inhibition of mitosis, NAD depletion, decreased tissue respiration and finally cell death. https://github.com/monarch-initiative/mondo/issues/5528 mustard agent poisoning mustard gas poisoning sulfur mustard poisoning MONDO:0800388 A poisoning that is caused by exposure to cardiac glycoside. https://github.com/monarch-initiative/mondo/issues/5528 cardiac glycoside poisoning digitalis intoxication digitalis toxicity cardiac glycoside intoxication MONDO:0800389 A poisoning that is caused by exposure to monochloroacetic acid. https://github.com/monarch-initiative/mondo/issues/5528 monochloroacetic acid poisoning MONDO:0800390 Toxicities following administration of chemotherapeutic agents https://github.com/monarch-initiative/mondo/issues/5528 chemotherapy-induced toxicity MONDO:0800391 An inherited retinopathy caused by bi-allelic variants in the EYS gene. https://github.com/monarch-initiative/mondo/issues/5693 EYS-related retinopathy MONDO:0800392 An inherited retinopathy caused by bi-allelic variants in the GNAT2 gene. https://github.com/monarch-initiative/mondo/issues/5693 GNAT2-related retinopathy MONDO:0800393 An inherited retinopathy caused by bi-allelic variants in the IDH3B gene. https://github.com/monarch-initiative/mondo/issues/5693 IDH3B-related retinopathy MONDO:0800394 An inherited retinopathy caused by bi-allelic variants in the MERTK gene. https://github.com/monarch-initiative/mondo/issues/5693 MERTK-related retinopathy MONDO:0800395 An inherited retinopathy caused by variants in the PRPF31 gene. https://github.com/monarch-initiative/mondo/issues/5693 PRPF31-related retinopathy MONDO:0800396 An inherited retinopathy caused by bi-allelic variants in the GPR179 gene. https://github.com/monarch-initiative/mondo/issues/5693 GPR179-related retinopathy MONDO:0800397 An inherited retinopathy caused by bi-allelic variants in the GRM6 gene. https://github.com/monarch-initiative/mondo/issues/5693 GRM6-related retinopathy MONDO:0800398 An inherited retinopathy caused by bi-allelic variants in the ADAM9 gene. https://github.com/monarch-initiative/mondo/issues/5693 ADAM9-related retinopathy MONDO:0800399 An autosomal dominant retinopathy caused by variants in the RP1 gene. https://github.com/monarch-initiative/mondo/issues/5693 RP1-related recessive retinopathy MONDO:0800400 An inherited retinopathy caused by bi-allelic variants in the RP1 gene. https://github.com/monarch-initiative/mondo/issues/5693 RP1-related dominant retinopathy MONDO:0800401 An inherited retinopathy caused by bi-allelic variants in the CERKL gene. https://github.com/monarch-initiative/mondo/issues/5693 CERKL-related retinopathy MONDO:0800402 An inherited retinopathy caused by bi-allelic variants in the TRPM1 gene. https://github.com/monarch-initiative/mondo/issues/5693 TRPM1-related retinoapthy MONDO:0800403 An inherited retinopathy caused by bi-allelic variants in the CNGB1 gene. https://github.com/monarch-initiative/mondo/issues/5693 CNGB1-related retinopathy MONDO:0800404 An inherited retinopathy caused by bi-allelic variants in the PCARE gene. https://github.com/monarch-initiative/mondo/issues/5693 PCARE-related retinopathy MONDO:0800405 An inherited retinopathy caused by bi-allelic variants in the CNGA1 gene. https://github.com/monarch-initiative/mondo/issues/5693 CNGA1-related retinopathy MONDO:0800406 An inherited retinopathy caused by bi-allelic variants in the ABCA4 gene. https://github.com/monarch-initiative/mondo/issues/5693 ABCA4-related retinoapthy MONDO:0800407 An X-linked retinopathy caused by variants in the NYX gene. https://github.com/monarch-initiative/mondo/issues/5693 NYX-related retinoapthy MONDO:0800408 https://github.com/monarch-initiative/mondo/issues/5507 urogenital adysplasia MONDO:0800409 https://github.com/monarch-initiative/mondo/issues/5507 ventricular fibrillation during myocardial infarction, susceptibility to MONDO:0800410 https://github.com/monarch-initiative/mondo/issues/5507 UV-induced skin damage, susceptibility to MONDO:0800412 https://github.com/monarch-initiative/mondo/issues/5507 yakut short stature syndrome MONDO:0800413 https://github.com/monarch-initiative/mondo/issues/5507 antisocial behavior, susceptibility to MONDO:0800414 https://github.com/monarch-initiative/mondo/issues/5507 aplastic anemia, susceptibility to MONDO:0800415 https://github.com/monarch-initiative/mondo/issues/5507 asthma, aspirin-induced, susceptibility to MONDO:0800416 https://github.com/monarch-initiative/mondo/issues/5507 AUTS1 autism, susceptibility to, 1 MONDO:0800417 https://github.com/monarch-initiative/mondo/issues/5507 AUTS4 autism, susceptibility to, 4 MONDO:0800418 https://github.com/monarch-initiative/mondo/issues/5507 breast cancer, familial, susceptibility to, 1 MONDO:0800419 https://github.com/monarch-initiative/mondo/issues/5507 breast cancer, familial, susceptibility to, 2 MONDO:0800420 https://github.com/monarch-initiative/mondo/issues/5507 breast cancer, familial, susceptibility to, 3 MONDO:0800421 https://github.com/monarch-initiative/mondo/issues/5507 cardiomyopathy, familial hypertrophic, 4, susceptibility to MONDO:0800422 https://github.com/monarch-initiative/mondo/issues/5507 cirrhosis, noncryptogenic, susceptibility to MONDO:0800423 https://github.com/monarch-initiative/mondo/issues/5507 CRCS4 colorectal cancer, susceptibility to, 4 MONDO:0800424 https://github.com/monarch-initiative/mondo/issues/5507 colorectal cancer, susceptibility to, on chromosome 15 MONDO:0800425 https://github.com/monarch-initiative/mondo/issues/5507 coronary artery disease, severe, susceptibility to MONDO:0800426 https://github.com/monarch-initiative/mondo/issues/5507 dengue fever, susceptibility to MONDO:0800427 https://github.com/monarch-initiative/mondo/issues/5507 dengue hemorrhagic fever, susceptibility to MONDO:0800428 https://github.com/monarch-initiative/mondo/issues/5507 dengue shock syndrome, susceptibility to MONDO:0800429 https://github.com/monarch-initiative/mondo/issues/5507 DYX4 dyslexia, susceptibility to, 4 MONDO:0800430 https://github.com/monarch-initiative/mondo/issues/5507 DYX7 dyslexia, susceptibility to, 7 MONDO:0800431 https://github.com/monarch-initiative/mondo/issues/5507 efavirenz central nervous system toxicity, susceptibility to MONDO:0800432 https://github.com/monarch-initiative/mondo/issues/5507 obesity, susceptibility to MONDO:0800433 https://github.com/monarch-initiative/mondo/issues/5507 ovarian cancer, familial, susceptibility to, 1 MONDO:0800434 https://github.com/monarch-initiative/mondo/issues/5507 ovarian cancer, familial, susceptibility to, 2 MONDO:0800435 https://github.com/monarch-initiative/mondo/issues/5507 ovarian cancer, familial, susceptibility to, 3 MONDO:0800436 Any craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development in which the cause of the disease is a variation in the TMCO1 gene. https://github.com/monarch-initiative/mondo/issues/5619 CFSMR1 cerebrofaciothoracic dysplasia pascual-Castroviejo syndrome type 1 CFSMR cerebro facio thoracic dysplasia pascual-Castroviejo syndrome craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 https://rarediseases.info.nih.gov/diseases/1210/cerebro-facio-thoracic-dysplasia MONDO:0800437 A rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay. https://github.com/monarch-initiative/mondo/issues/5619 CFZS1 Carey-Fineman-Ziter syndrome 1 myopathy, congenital nonprogressive, with Moebius sequence and Robin sequence myopathy-Moebius-Robin syndrome CFZS Carey Fineman Ziter syndrome Moebius sequence, Robin complex, and hypotonia congenital nonprogressive myopathy with Moebius and Robin sequences myopathy, congenital nonprogressive with Moebius and Robin sequences Carey-Fineman-Ziter syndrome 1 https://rarediseases.info.nih.gov/diseases/3889/carey-fineman-ziter-syndrome MONDO:0800438 Any developmental delay with short stature, dysmorphic facial features, and sparse hair in which the cause of the disease is a mutation in the DPH1 gene. https://github.com/monarch-initiative/mondo/issues/4521 developmental delay with short stature, dysmorphic facial features, and sparse hair developmental delay-short stature-dysmorphic features-sparse hair syndrome DEDSSH1 developmental delay with short stature, dysmorphic features, and sparse hair 1 diphtamide deficiency syndrome Loucks-Innes syndrome developmental delay with short stature, dysmorphic facial features, and sparse hair 1 MONDO:0810000 An eye disorder described by the growth of new blood vessels that originate from the choroid through a break in the Bruch membrane into the sub–retinal pigment epithelium (sub-RPE) or subretinal space. Choroidal neovascularization (CNV) is a major cause of visual loss. https://github.com/monarch-initiative/mondo/issues/5388 https://github.com/monarch-initiative/mondo/issues/5537 choroidal neovascularization MONDO:0850001 Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy. congenital neuronal ceroid lipofuscinosis MONDO:0850008 anterior segment developmental abnormality with extraocular manifestations MONDO:0850009 syndromic microspherophakia MONDO:0850010 congenital optic disc excavation MONDO:0850013 twin anemia-polycythemia sequence MONDO:0850014 twin-reversed arterial perfusion sequence MONDO:0850015 selective intrauterine growth restriction MONDO:0850030 complete hemimelia MONDO:0850046 amniotic fluid embolism MONDO:0850048 classic eosinophilic pustular folliculitis MONDO:0850049 painful legs and moving toes syndrome MONDO:0850050 congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome MONDO:0850053 F12-associated cold autoinflammatory syndrome MONDO:0850054 hemophilia B leyden MONDO:0850058 chronic neurovisceral acid sphingomyelinase deficiency MONDO:0850059 hereditary persistence of fetal hemoglobin-intellectual disability syndrome MONDO:0850064 inherited hematologic cancer-predisposing syndrome MONDO:0850065 neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 MONDO:0850066 SAMD9L-associated autoinflammatory syndrome MONDO:0850067 immune deficiency due to impaired neutrophil phagocytosis and migration MONDO:0850068 early-onset autoimmunity-autoinflammation-immunodeficiency syndrome MONDO:0850069 familial hyperinflammatory lymphoproliferative immunodeficiency MONDO:0850070 CADINS disease MONDO:0850071 developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome MONDO:0850072 non-syndromic unisutural craniosynostosis MONDO:0850073 non-syndromic unicoronal craniosynostosis MONDO:0850074 non-syndromic unilambdoid craniosynostosis MONDO:0850075 non-syndromic unifrontosphenoidal craniosynostosis MONDO:0850076 non-syndromic unisquamosal craniosynostosis MONDO:0850077 non-syndromic multisutural craniosynostosis MONDO:0850078 non-syndromic non-specific multisutural craniosynostosis MONDO:0850079 non-syndromic bilambdoid craniosynostosis MONDO:0850080 non-syndromic unicoronal and sagittal craniosynostosis MONDO:0850081 non-syndromic metopic and sagittal craniosynostosis MONDO:0850082 non-syndromic bicoronal and metopic craniosynostosis MONDO:0850083 non-syndromic bicoronal and sagittal craniosynostosis MONDO:0850084 non-syndromic pansynostosis MONDO:0850087 primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome MONDO:0850088 EGF-related primary hypomagnesemia with intellectual disability MONDO:0850089 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation MONDO:0850090 fibrosis-neurodegeneration-cerebral angiomatosis syndrome MONDO:0850095 X-linked severe syndromic thoracic aortic aneurysm and dissection MONDO:0850096 SBDS-related severe neonatal spondylometaphyseal dysplasia MONDO:0850097 A rare autoimmune encephalitis involving the mesial temporal lobes and clinically characterized by subacute onset (i. e. rapid progression of less than three months) of short-term memory deficits, seizures or psychiatric symptoms, such as behavioral changes, anxiety, depression, and psychosis. Further diagnostic criteria are bilateral abnormalities restricted to the mesial temporal lobes in brain MRI, cerebrospinal fluid pleocytosis and/or epileptic or slow-wave activity involving the temporal lobes in EEG, and reasonable exclusion of alternative causes. Paraneoplastic or non-paraneoplastic antibodies against neuronal antigens may be found in serum and/or cerebrospinal fluid. autoimmune limbic encephalitis MONDO:0850099 MIR140-related spondyloepiphyseal dysplasia MONDO:0850100 body integrity dysphoria MONDO:0850102 non-specific autoimmune supratentorial encephalitis with characteristic antibodies MONDO:0850103 non-specific autoimmune supratentorial encephalitis without characteristic antibodies MONDO:0850104 paraneoplastic isolated brainstem encephalitis MONDO:0850105 non-specific autoimmune brainstem encephalitis with characteristic antibodies MONDO:0850106 non-specific autoimmune brainstem encephalitis without characteristic antibodies MONDO:0850107 postinfectious cerebellitis MONDO:0850108 non-specific autoimmune cerebellar ataxia with characteristic antibodies MONDO:0850109 non-specific autoimmune cerebellar ataxia without characteristic antibodies MONDO:0850115 early-onset obesity-hyperphagia-severe developmental delay syndrome MONDO:8000000 An infection of the intervertebral disc space. https://github.com/monarch-initiative/mondo/issues/501 infectious discitis MONDO:8000001 Discitis caused by infection with Staphylococcus. https://github.com/monarch-initiative/mondo/issues/501 staphylococcus discitis MONDO:8000002 Discitis caused by infection with Escherichia coli. https://github.com/monarch-initiative/mondo/issues/501 escherichia coli discitis MONDO:8000003 Discitis caused by infection with Streptococcus pneumoniae. https://github.com/monarch-initiative/mondo/issues/501 streptococcus pneumoniae discitis MONDO:8000004 Discitis caused by infection with Salmonella. https://github.com/monarch-initiative/mondo/issues/501 salmonella discitis MONDO:8000005 Discitis caused by infection with fungi. https://github.com/monarch-initiative/mondo/issues/501 fungal discitis MONDO:8000006 A congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma). https://github.com/monarch-initiative/mondo/issues/4521 https://orcid.org/0000-0001-5208-3432 WHIM syndrome WHIMS WILM Warts, hypogammaglobulinemia, infections, and myelokathexis Warts, hypogammaglobulinemia, infections, and myelokathexis syndrome Warts-hypogammaglobulinemia-infections-myelokathexis syndrome Warts-infections-leukopenia-myelokatexis syndrome myelokathexis, isolated WHIM syndrome 1 https://rarediseases.info.nih.gov/diseases/9297/whim-syndrome MONDO:8000008 This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. https://github.com/monarch-initiative/mondo/issues/5588 https://orcid.org/0000-0001-5208-3432 MARTSOLF syndrome Martsolf syndrome cataract-intellectual disability-hypogonadism syndrome cataract-mental retardation-hypogonadism cataract-intellectual disability-hypogonadism Martsolf syndrome 1 MONDO:8000010 A disorder caused by the presence of autoantibodies directed against phospholipids, causing a hypercoaguable state, which may result in blood clots, stroke, heart attack, and in women, significant pregnancy-related complications, including miscarriage and still birth. The syndrome is often associated with other autoimmune disorders, most commonly lupus erythematosus, and infections, including syphilis and Lyme disease. https://orcid.org/0000-0001-5208-3432 Hughes syndrome antiphospholipid antibody syndrome antiphospholipid syndrome familial lupus anticoagulant lupus anticoagulant, familial antiphospholipid syndrome MONDO:8000011 A form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction. https://orcid.org/0000-0001-5208-3432 Argyrophil myenteric plexus deficiency of Argyrophil myenteric plexus, deficiency of NID A intestinal pseudoobstruction due to neuronal disease neuronal intestinal dysplasia, type a pseudoobstruction chronic idiopathic intestinal neuronal type pseudoobstruction, chronic idiopathic intestinal, neuronal type visceral neuropathy familial visceral neuropathy, familial, autosomal recessive visceral neuropathy, familial, 1, autosomal recessive MONDO:8000012 https://github.com/monarch-initiative/mondo/issues/4521 https://orcid.org/0000-0001-5208-3432 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset IMNEPD infantile-onset multisystem neurologic, endocrine, and pancreatic disease neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 MONDO:8000013 portal hypertension, noncirrhotic NCPH portal hypertension, noncirrhotic; NCPH portal hypertension, noncirrhotic, 1 MONDO:8000014 Autosomal dominant form of antiphospholipid syndrome. https://orcid.org/0000-0001-5208-3432 Hughes syndrome antiphospholipid syndrome, familial familial antiphospholipid syndrome MONDO:8000015 Any 46,XY complete gonadal dysgenesis in which the cause of the disease is a mutation in the DHX37 gene. https://github.com/monarch-initiative/mondo/issues/1447 https://github.com/monarch-initiative/mondo/issues/4521 46, XY sex reversal 11 SRXY11 TRS XY gonadal agenesis syndrome anorchia, familial testicular regression syndrome testicular regression, embryonic 46,XY sex reversal 11 MONDO:8000017 A developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development. https://github.com/monarch-initiative/mondo/issues/1447 https://github.com/monarch-initiative/mondo/issues/5768 2023-05-01 ETRS TRS embryonic testicular regression syndrome vanishing testes syndrome vanishing testis syndrome Reason: duplicate. This will be merged with MONDO:8000015 46,XY sex reversal 11 testicular regression syndrome MONDO:8000018 Idiopathic recurrent vertigo associated with positional nystagmus. It is associated with a vestibular loss without other neurological or auditory signs. Unlike in labyrinthitis and vestibular neuronitis inflammation in the ear is not observed. https://github.com/monarch-initiative/mondo/issues/2686 BPPV BRV benign paroxysmal positional nystagmus benign paroxysmal positional vertigo familial benign recurrent vertigo familial vestibulopathy vertigo, benign paroxysmal positional vertigo, benign recurrent vestibulopathy, familial benign paroxysmal positional vertigo MONDO:8000019 https://github.com/monarch-initiative/mondo/issues/2686 https://github.com/monarch-initiative/mondo/issues/5507 BRV1 vertigo, benign recurrent, 1 vertigo, benign recurrent, 1 MONDO:8000023 A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma. https://github.com/monarch-initiative/mondo/issues/4098 type 3 autoimmune lymphoproliferative syndrome MONDO:8000024 Any autoimmune lymphoproliferative syndrome in which the cause of the disease is a mutation in the PRKCD gene. https://github.com/monarch-initiative/mondo/issues/4098 autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD OAE:0000001 Adverse Event Outcome is a Safety Event Outcome describing a pathological bodily process that occurs after a medical intervention. An adverse event is likely caused by the medical intervention; however, such a causal association is not required to be an adverse event. Melanie Courtot and YH: More work is needed on how to restrict the scope of a term to be an 'adverse event', notably regarding temporal association. When is an appropirate time interval between a medical intervention and an adverse event observed? One week, one month, one year, or a lifetime? For some well-studied medical interventions (e.g., administration of many vaccines or drugs), we probably have a general idea. For many new interventions, we don't know much. In OAE, this issue is associated with defining the 'adverse event incubation time'. YH: An adverse event is a process that has specified output of some adverse medical outcome (e.g., symptom, sign or accident) after a medical intervention (or process) (e.g., administration of drug or vaccine). The medical intervention can be an administration of a drug, a vaccine (i.e., vaccination), or a special nutritional product (for example, dietary supplement, infant formula, medical food), surgery, or usage of a medical device. YH: An adverse event is possibly induced by the medical intervention. It can be caused by the medical intervention, or may not be caused by the medical intervention. One ultimate goal (or the goal in clinics) of study adverse events is to assess if the adverse event outcome is due to the medical intervention. YH: In development of OAE, we initially use vaccine adverse event as our use case. A vaccine adverse event is associated with a vaccination (i.e. a medical intervention), regardless of whether it is considered vaccine-related, and includes any side effect, injury, toxicity, or sensitivity reaction or significant failure of immunization (i.e., a pharmacologic action). Ref: Baylor NW and Midthum K. Regulation and testing of vaccines. In: Vaccines (Editors: Plotkin S, Orenstein W, and Offit P). 2008. p1623. YH: The current term 'adverse event' is different from the term definition shown in our paper: He Y, Xiang Z, Sarntivijai S, Toldo L, Ceusters W. OAE: a realism-based biomedical ontology for the representation of adverse events. Adverse Event Representation Workshop, International Conference on Biomedical Ontologies (ICBO), University at Buffalo, NY, July 26-30, 2011. Full lenghth conference proceeding paper. We made the name changing in order to make OAE cover the broader sense of the 'adverse event' which does not assume definite causal effect between an adverse event and a medical intervention. In current definition, the adverse event emphasizes the time association and assumes a likelihood of such a causal association. This term 'adverse event' is stil under the OGMS:pathological bodily process. The 'adverse event' defined in the above paper has now been changed to a new term: 'causal adverse event'. See more information in the new publication: Yongqun He Y, Sirarat Sarntivijai, Yu Lin, Zuoshuang Xiang, Abra Guo, Shelley Zhang, Desikan Jagannathan, Luca Toldo, Cui Tao and Barry Smith. OAE: The Ontology of Adverse Events. Journal of Biomedical Semantics. 2014, 5:29 doi:10.1186/2041-1480-5-29. PMID: 25093068.PMCID: PMC4120740. YH: The main scope of OAE includes: (1) represent terms and relations in the area of adverse events, (2) assess possible associations between an adverse event and a medical intervention, particularly, identify any causal effect of a medical intervention to an adverse event; and (2) understand the mechanism (including molecular mechanisms) of causal adverse events. YH: There has been discussion regarding whether the term 'side effect' is an alternative term for 'adverse event'. In AERO, the term 'AERO:adverse event' represents a subset of those adverse events for which causality has been established. In OAE, an adverse event for which causality has been established is called 'causal adverse event'. Yongqun He AE adverse reaction WEB: http://en.wikipedia.org/wiki/Adverse_event WEB: http://www.fda.gov/Safety/MedWatch/HowToReport/ucm053087.htm WEB: http://www.ncbi.nlm.nih.gov/pubmed/25093068 The OAE official website is: http://www.oae-ontology.org/. Adverse Event Outcome OAE:0000003 an adverse event which is a causal adverse event, a pathological bodily process that is induced by a medical intervention. YH: The term 'causal adverse event' has the same meaning as we previously defined as 'adverse event'. Reference: He Y, Xiang Z, Sarntivijai S, Toldo L, Ceusters W. OAE: a realism-based biomedical ontology for the representation of adverse events. Adverse Event Representation Workshop, International Conference on Biomedical Ontologies (ICBO), University at Buffalo, NY, July 26-30, 2011. Full lenghth conference proceeding paper. We made the name changing as a way to make OAE cover the broader sense of the 'adverse event' which does not assume definite causal effect between an adverse event and a medical intervention. YH adverse effect He Y, Xiang Z, Sarntivijai S, Toldo L, Ceusters W. OAE: a realism-based biomedical ontology for the representation of adverse events. Adverse Event Representation Workshop, International Conference on Biomedical Ontologies (ICBO), University at Buffalo, NY, July 26-30, 2011. Full lenghth conference proceeding paper. YH: the term "adverse effect" has the same meaning of "causal adverse event". causal adverse event OAE:0000004 an adverse event that occurs after a vaccination. YH vaccine adverse event OAE:0000005 an adverse event that occurs after a drug administration YH, JX ADE ADR adverse drug reaction drug adverse event adverse drug event OAE:0000007 an adverse event that is associated with eating a medical food. YH medical food adverse event OAE:0000008 an adverse event that is induced by consuming a nutritional product. YH nutritional product adverse event OAE:0000009 an adverse event that is associated with consuming a dietary supplement. YH dietary supplement adverse event OAE:0000010 an adverse event that is associated with consuming an infant formula. YH infant formula adverse event OAE:0000017 an imaging investigation result abnormal AE that is characterized by an abnormal X-ray SS, YH, EB 10048065 X-ray result abnormal AE OAE:0000018 an X-ray result abnormal AE that has an outcome of an abnormality in chest X-ray test SS, YH 10008499 chest X-ray abnormal AE OAE:0000019 a haematoma AE that has an outcome of contusion. SS, YH WEB: http://en.wikipedia.org/wiki/Bruise 10050584 Contusion is a type of relatively minor hematoma of tissue in which capillaries and sometimes venules are damaged by trauma, allowing blood to seep into the surrounding interstitial tissues. contusion AE OAE:0000020 a digestive system AE which has an outcome of dry throat, which is a sensation of dryness in the throat. SS, YH 10013789 dry throat AE OAE:0000021 a skin discoloration AE which has an outcome of flushing, a sudden reddening of the face, neck, or upper chest SS, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/003241.htm 脸红 10016825 flushing AE CTCAE:E13771 HPO: HP_0001033 NCIt:C26775 SIDER: C0016382 OAE:0000022 a pain AE where the pain reachs an extreme level. SS, YH, MW 10033425 pain in extremity AE CTCAE: E12512 HPO: HP_0009763 NCIt: C78515 SIDER: C0030196 OAE:0000023 a respiratory system AE which has an outcome of postnasal drip, which occurs when excessive mucus is produced by the nasal Mucosa. The excess mucus accumulates in the throat or back of the nose. SS, YH PDN UACS Upper Airway Cough Syndrome WEB: http://en.wikipedia.org/wiki/Post-nasal_drip 10036402 postnasal drip AE CTCAE: E13514 NCIt: C78566 OAE:0000024 a syndrome AE that is subclassified as five defined entities which represent clinical circumstances in which both the heart and the kidney are involved in a bidirectional injury and dysfunction via a final common pathway of cell-to-cell death and accelerated apoptosis mediated by oxidative stress. Types 1 and 2 involve acute and chronic cardiovascular disease (CVD) scenarios leading to acute kidney injury or accelerated chronic kidney disease. Types 2 and 3 describe acute and chronic kidney disease leading primarily to heart failure, although it is possible that acute coronary syndromes, stroke, and arrhythmias could be CVD outcomes in these forms of CRS. Finally, CRS type 5 describes a simultaneous insult to both heart and kidneys, such as sepsis, where both organs are injured simultaneously. SS, YH CRS WEB: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3030731/ 10068230 cardiorenal syndrome AE OAE:0000026 A bursal disorder AE that has an outcome of the symptom of bursitis. SS, YH bursa inflammation WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001456/ bursitis AE OAE:0000027 an adverse event that has an outcome of abnormal sign in a musculoskeletal or connective tissue. YH, RR, JX musculoskeletal and connective tissue disorder AE WEB: http://www.cdc.gov/niosh/programs/msd/ 10028395 A musculoskeletal disorder is an injury or disorder of the muscles, nerves, tendons, joints, cartilage, or supporting structures of the upper or lower limbs, neck, or lower back that are caused, precipitated, or exacerbated by sudden exertion or prolonged exposure to physical factors such as repetition, force, vibration, or awkward posture musculoskeletal or connective tissue AE CTCAE: E13872 OAE:0000029 a musculoskeletal system AE which has an outcome of bursal disorder YH bursal disorder AE OAE:0000030 a vaccine adverse event that is induced by an influenza vaccine. YH: This term is just used as an example of vaccine induced adverse events. Specific vaccine-associated and vaccine-induced adverse events are now represented with the Ontology of Vaccine Adverse Events (OVAE).: http://www.violinet.org/ovae/. YH influenza vaccine-induced adverse event OAE:0000031 an influenza vaccine adverse event that is induced by a killed influenza vaccine (KIV). YH KIV-induced adverse event OAE:0000032 A KIV-induced AE that results in a GBS. YH VAERS statistical data analysis There is little evidence to support a causal association between GBS and most vaccines. The evidence for a causal association is strongest for the swine influenza vaccine that was used in 1976-77. Studies of influenza vaccines used in subsequent years, however, have found small or no increased risk of GBS. Reference: http://www.ncbi.nlm.nih.gov/pubmed?term=19388722. KIV-induced GBS averse event in 1976-1977 OAE:0000033 a muscle pain AE that is induced by Afluria influenza vaccine administration YH WEB: http://www.fda.gov/downloads/BiologicsBloodVaccines/Vaccines/ApprovedProducts/UCM220730.pdf Afluria-induced muscle ache AE OAE:0000034 a behavior and neurological AE that has an outcome of fatigue, which is a state of awareness describing a range of afflictions, usually associated with physical and/or mental weakness, though varying from a general state of lethargy to a specific work-induced burning sensation within one's muscles. Physical fatigue is the inability to continue functioning at the level of one's normal abilities. lethargy is sometimes reported as an extreme fatigue: http://the-difference-between.com/lethargy/fatigue they are sometimes regarded as synonyms: https://www.nlm.nih.gov/medlineplus/ency/article/003088.htm SS, YH, MW lethargy AE WEB: http://en.wikipedia.org/wiki/Fatigue_%28medical%29 10016256 10024264 fatigue AE CTCAE: E11098 (fatigue); CTCAE: E12709 (lethargy) HPO: HP_0003388 NCIt: C3036; NCIt: C78416 SIDER: C0015672 OAE:0000035 a microbiology and serology investigation result abnormal AE that has an outcome of CSF culture negative. The negative result means no bacteria, viruses, or fungi grew in the laboratory dish. YH: The negative result is normal. It is not an AE. SS, YH, EB CSF culture negative AE OAE:0000036 a lab test abnormal AE that has an outcome of an abnormal result in a blood cell lab test SS, YH blood cell lab test abnormal AE OAE:0000037 an eosinophil percentage abnormal AE that has an outcome of increased eosinophil percentage YH, EB 10052222 eosinophil percentage increased AE OAE:0000038 a cardiac disorder AE that is characterized by a necrosis of the myocardium caused by an obstruction of the blood supply to the heart SS WEB: http://www.ncbi.nlm.nih.gov/mesh/68009203 心肌梗塞 10028596 myocardial infarction AE CTCAE: E10152 HPO: HP_0001658 NCIt: C27996 SIDER: C0027051 OAE:0000039 a neutrophil count abnormal AE that has an outcome of increased neutrophil count YH 10029368 neutrophil count increased AE HPO: HP_0011991 SIDER: NA OAE:0000040 an adverse event that shows a complication that occurs after a medical procedure such as a surgery. SS, YH post-procedural AE procedural disorder AE procedure AE procedural complication AE OAE:0000041 an adverse event that has an outcome of injury after a medical intervention. SS, YH 10022116 injury AE OAE:0000042 an injury AE which has an outcome of head injury SS, YH 10019196 head injury AE OAE:0000043 a behavior and neurological AE that has an abnormal outcome in social behavior SS, YH social behavior AE OAE:0000044 a social behavior AE that has an outcome of impaired work ability SS, YH impaired work ability AE OAE:0000045 an allergy AE which has an outcome of injection-site allergic reaction 10022095 injection-site allergic reaction AE OAE:0000046 a myelitis AE which has an outcome of myelitis transverse. Transverse myelitis (in Latin nomenclature: myelitis transversa) is a neurological disorder caused by an inflammatory process of the spinal cord, and can cause axonal demyelination. SS, YH WEB: http://en.wikipedia.org/wiki/Transverse_myelitis 10028527 myelitis transverse AE OAE:0000047 a skin adverse even that has an outcome of warm skin SS, YH skin warm AE OAE:0000048 Nystagmus AE is an eye AE that is a condition of involuntary eye movement, acquired in infancy or later in life, that may result in reduced or limited vision. Due to the involuntary movement of the eye, it is often called "dancing eyes". JX, LW, YH WEB: http://en.wikipedia.org/wiki/Nystagmus 10029864 nystagmus AE CTCAE:E12748 NCIt:C3282 眼球震颤 OAE:0000049 a dermatitis AE that has an outcome of dermatitis bullous SS, YH bullous pemphigoid AE 10012441 Bullous pemphigoid is a skin disorder characterized by large blisters. dermatitis bullous AE HPO: HP_0011123 SIDER: C0085932 OAE:0000050 a skin adverse event that is characterized by an uncomfortable and temporary sensation of intense body warmth, flushing, sometimes accompanied by sweating upon cooling. SS, YH, MW hot flash AE hot flashes AE hot flush AE 10020407 hot flushes AE CTCAE: E13781 HPO: HP_0008209 NCIt: C3109 SIDER: C0600142 OAE:0000051 a KIV-induced adverse event that has an outcome of Afluria-induced adverse event YH Afluria-induced adverse event OAE:0000052 an adverse event that results in the outcome of a tumor. mass AE nodule AE tumour AE 10026865 YH, RR tumor AE OAE:0000053 a respiratory system AE which has an outcome of wheezing, a high-pitched whistling sound made while breathing. SS, YH, MW WEB: http://www.mayoclinic.org/symptoms/wheezing/basics/definition/sym-20050764 10047924 wheezing AE CTCAE:E13605 NCIt:C78718 OAE:0000054 a behavior and neurological AE that has an outcome of weight bearing difficulty weight bearing difficulty is a behavior AE that results in difficulty in managing the amount of weight a patient puts on the leg on which surgery has been performed. In general, it is described as a percentage of the body weight, because each leg of a healthy person carries the full body weight when walking, in an alternating fashion. SS, YH WEB: http://en.wikipedia.org/wiki/Weight-bearing weight bearing difficulty AE OAE:0000057 an Afluria-induced adverse event that has an outcome of Afluria-induced fever in child YH WEB: http://www.fda.gov/downloads/BiologicsBloodVaccines/Vaccines/ApprovedProducts/UCM220730.pdf Afluria-induced fever AE in child OAE:0000058 an Afluria-induced adverse event that has an outcome of Afluria-induced cough in child YH WEB: http://www.fda.gov/downloads/BiologicsBloodVaccines/Vaccines/ApprovedProducts/UCM220730.pdf Afluria-induced cough AE in child OAE:0000059 an Afluria-induced adverse event which has an outcome of Afluria-induced injection site pain YH WEB: http://www.fda.gov/downloads/BiologicsBloodVaccines/Vaccines/ApprovedProducts/UCM220730.pdf Afluria-induced injection site pain AE OAE:0000060 an Afluria-induced adverse event that has an outcome of Afluria-induced injection site redness YH WEB: http://www.fda.gov/downloads/BiologicsBloodVaccines/Vaccines/ApprovedProducts/UCM220730.pdf Afluria-induced injection site redness AE OAE:0000061 an Afluria-induced AE that has an outcome of Afluria-induced inject site swelling YH WEB: http://www.fda.gov/downloads/BiologicsBloodVaccines/Vaccines/ApprovedProducts/UCM220730.pdf Afluria-induced inject site swelling AE OAE:0000062 an Afluria-induced adverse event that has an outcome of Afluria-induced headache YH WEB: http://www.fda.gov/downloads/BiologicsBloodVaccines/Vaccines/ApprovedProducts/UCM220730.pdf Afluria-induced headache AE OAE:0000063 an adverse event that occurs systematically throughout the systemic circulation. This is different from local adverse event that is limited or a certain location. YH, JX systematic adverse event URL: https://en.wikipedia.org/wiki/Adverse_drug_reaction systematic AE OAE:0000064 A pregnancy, neonatal and perinatal AE that displays a disorder associated with pregnancy. prenatal AE WEB: https://en.wikipedia.org/wiki/Complications_of_pregnancy WEB: https://en.wikipedia.org/wiki/Prenatal_diagnosis YH, JX pregnancy AE OAE:0000066 a procedure complication AE that occurs after a surgery. YH surgery AE surgery adverse event surgical procedure AE The key difference between a surgery and a procedure is the need for an incision. Making an incision, or cutting into the skin to gain access to the body’s deeper tissues or organs, is a defining characteristic of surgery. Technically speaking, a surgery is a specific type of procedure. A procedure is a broad general term that refers to any series of pre-defined steps that should be followed to achieve a desired result. Therefore, a “surgical procedure” is synonymous with a “surgery.” See more: http://www.wisegeekhealth.com/what-is-the-difference-between-a-surgery-and-a-procedure.htm. surgery adverse event OAE:0000068 a sugery adverse event that has an outcome of pressure ulcer. YH surgery-induced bedsore AE surgery-induced decubitus ulcer AE surgery-induced pressure ulcer AE OAE:0000069 an adverse event which occurs in a metabolism process (including anabolism and catabolism), endocrine system, or exocrine system. SS, YH, JX metabolism, endocrine, and exocrine system AE 10027433 metabolism, endocrine or exocrine system AE MP: 0005266 OAE:0000070 an adverse event that occurs in clinical trial. YH clinical trial adverse event OAE:0000073 an influenza vaccine adverse event that is induced by a live attenuated influenza vaccine (LAIV). YH LAIV-induced adverse event OAE:0000074 an LAIV-induced adverse event that is caused by the FluMist LAIV. YH WEB: http://www.fda.gov/downloads/BiologicsBloodVaccines/Vaccines/ApprovedProducts/UCM123743.pdf FluMist-induced adverse event OAE:0000075 a FluMist-induced adverse event that has an outcome of FluMist-induced runny nose YH FluMist-induced runny nose AE OAE:0000076 a FluMist-induced AE that has an outcome of FluMist-induced nasal congestion YH FluMist-induced nasal congestion AE OAE:0000078 A FluMist-induced AE that has an outcome of sore throat YH WEB: http://www.fda.gov/downloads/BiologicsBloodVaccines/Vaccines/ApprovedProducts/UCM123743.pdf FluMist-induced sore throat AE in adult OAE:0000079 a tumore AE that results in the outcome of a benign tumor. YH benign tumor AE OAE:0000080 a tumore AE that results in the outcome of a malignant tumor. YH malignant tumor AE OAE:0000081 a sensory capability AE that resuls in an uncomfortable feeling. YH discomfort AE HPO: HP_0010832 SIDER: C0234215 OAE:0000082 a reproductive system AE that occurs on the female side. YH 10038604 female reproductive system AE OAE:0000083 a reproductive system AE that occurs on the male side. YH male reproductive system AE OAE:0000084 a cardiovascular disorder AE that has a cardiac disorder outcome. SS, YH WEB: Primary Source: http://medical-dictionary.thefreedictionary.com/heart+disease Secondary Source: http://www.ncbi.nlm.nih.gov/pubmed/23091623 10007541 10061024 cardiac disorder AE HPO: HP_0001627 SIDER: C0018799 OAE:0000085 a cardiovascular disorder AE that has a vascular disorder outcome 10047065 vascular disorder AE OAE:0000086 a skin adverse event that results in an inflammation of skin SS, YH 10012431 dermatitis AE HPO: HP_0011123 SIDER: C0011603 OAE:0000087 a drug adverse event that is induced by aspirin. YH WEB: http://www.consumerreports.org/health/prescription-drugs/aspirin/while-taking.htm aspirin-induced adverse event OAE:0000088 an aspirin-induced adverse event that is induced by the aspirin drug Aspidrox. Aspidrox-induced adverse event OAE:0000089 an aspirin-induced adverse event that has an outcome of nausea YH WEB: http://www.consumerreports.org/health/prescription-drugs/aspirin/while-taking.htm aspirin-induced nausea AE OAE:0000090 an aspirin-induced adverse event that has an outcome of vomiting YH WEB: http://www.consumerreports.org/health/prescription-drugs/aspirin/while-taking.htm aspirin-induced vomiting AE OAE:0000091 an aspirin-induced adverse event that has an outcome of stomach pain YH WEB: http://www.consumerreports.org/health/prescription-drugs/aspirin/while-taking.htm aspirin-induced stomach pain AE OAE:0000092 an aspirin-induced adverse event that has an outcome of heartburn YH WEB: http://www.consumerreports.org/health/prescription-drugs/aspirin/while-taking.htm aspirin-induced heartburn AE OAE:0000093 an aspirin-induced adverse event that has an outcome of rash symptom. YH WEB: http://www.consumerreports.org/health/prescription-drugs/aspirin/while-taking.htm aspirin-induced rash AE OAE:0000095 YH a drug adverse event that is caused by a drug adiministration. Here a causal effect is established between the drug administration and the adverse event. causal adverse drug event OAE:0000096 a medical device adverse event that is induced or caused by a medical device. There is a causal relation between the adverse event and the usage of a medical device. YH adverse event induced by medical device OAE:0000097 an adverse event that is induced by a vaccination. YH vaccine-induced adverse event OAE:0000098 a surgery adverse event that is caused by a surgery. YH surgery-induced adverse event OAE:0000099 YH a nutritional product adverse event that has a causal assocition with the usage of the nutritional product. nutritional product-induced adverse event OAE:0000100 influenza like illness AE is an adverse event that has an outcome of a medical diagnosis of possible influenza or other illness causing a set of common symptoms SS, YH acute respiratory infection, ARI, flu-like syndrome WEB: http://en.wikipedia.org/wiki/Influenza-like_illness 10016791 influenza like illness AE HPO: HP_0005376 MDR: 10022004 SIDER: C0521839 OAE:0000103 YH a pathogen infection adverse event that has an outcome of a fungal infection. 10017533 fungal infection AE HPO: HP_0002841 SIDER: C0026946 OAE:0000162 a peripheral neuropathy AE which has an outcome of sensory neuropathy that involves damage to nerves of the peripheral nervous system. YH, AG sensory neuropathy AE sensory neuropathy AE OAE:0000163 a sensory neuropathy AE which has an outcome of distal sensory neuropathy that involves damage to distal sensory nerves of the peripheral nervous system. YH, AG distal sensory neuropathy AE OAE:0000164 a distal sensory neuropathy AE that is chronic. YH, AG chronic distal sensory neuropathy AE OAE:0000165 a neuropathy AE that is induced by a drug administration AG, YH https://medlineplus.gov/ency/article/000700.htm drug-induced neuropathy AE OAE:0000166 Tremor AE is a behavior and neurological AE that has an outcome of an involuntary trembling or quivering, and muscle contraction and relaxation. SS, YH WEB: http://www.nlm.nih.gov/medlineplus/tremor.html 10044565 tremor AE CTCAE: E12837 HPO: HP_0001337 NCIt: C38038 SIDER: C0040822 OAE:0000167 a neuropathy AE which shows symptoms due to the damage to the autonomic nerves. This damage disrupts signals between the brain and portions of the autonomic nervous system, such as the heart, blood vessels and sweat glands. This can cause decreased or abnormal performance of one or more involuntary body functions. AG, YH WEB: http://www.emedicinehealth.com/neuropathy/article_em.htm#types_of_neuropathy WEB: http://www.mayoclinic.org/diseases-conditions/autonomic-neuropathy/basics/definition/con-20029053 10061666 autonomic neuropathy AE HPO: HP_0002270 SIDER: C0259749 UMLS CUI: C0259749 OAE:0000168 a peripheral neuropathy AE which is caused by a damage to motor neurons AG, YH motor neuropathy AE OAE:0000169 A peripheral neuropathy AE which is characterized by damage to more than one nerve AG, YH, RR WEB: http://www.merckmanuals.com/home/brain_spinal_cord_and_nerve_disorders/peripheral_nerve_disorders/polyneuropathy.html 10036105 polyneuropathy AE HPO: HP_0001271 SIDER: C0152025 OAE:0000170 a neuropathy AE which is characterized by isolated damage of a single nerve AG, YH 10062203 mononeuropathy AE OAE:0000171 a peripheral neuropathy AE which affects extremities, such as, toes, fingers, hand and feet. AG, YH axonal neuropathy AE WEB: http://www.livestrong.com/article/184686-distal-neuropathy-symptoms/ distal neuropathy AE OAE:0000172 a nervous system AE that affects the neuronal cell body AG, YH WEB: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3922643/ neuronopathy AE OAE:0000173 A neuritis AE which has an outcome of mononeuritis characterized by isolated inflammation of one nerve. AG, YH 10027910 mononeuritis AE OAE:0000174 A neuritis AE which has an outcome of polyneuritis characterized by isolated inflammation of many nerves. AG, YH polyneuritis AE OAE:0000175 a mononeuritis AE which has an outcome of mononeuritis multiplex which involves damage to at least two seperate unrelated nerve area. AG, YH mononeuritis multiplex AE OAE:0000176 a sensory neuropathy AE which has an outcome of acute sensory neuropathy that is characterized by rapid onset AG, YH acute sensory neuropathy AE OAE:0000179 a causal adverse drug event that is induced by a drug-drug interaction. YH, LT WEB: http://medical-dictionary.thefreedictionary.com/drug+interaction 10013710 causal adverse drug event due to drug-drug interaction OAE:0000180 a causal adverse drug event that is induced by a food-drug interaction. YH, LT causal adverse drug event due to food-drug interaction OAE:0000181 a causal adverse drug event that is induced bygenetic predisposition. YH, LT causal adverse drug event due to genetic predisposition OAE:0000182 a causal adverse drug event due to genetic predisposition that is specifically induced by SNP. YH, LT causal adverse drug event due to SNP OAE:0000183 a cardiovascular disorder AE that is a result of insufficient blood flow throughout the body. Shock often accompanies severe injury or illness. physiological shock AE shock WEB: http://en.wikipedia.org/wiki/Shock_%28circulatory%29 WEB: http://njcc.nl/sites/default/files/pdf/review-2_1.pdf (Lima A. Circulatory shock and peripheral circulatory failure: a historical perspective. Netherlands Journal of Critical Care. 2014. 18:6. 14-18) WEB: https://www.nlm.nih.gov/medlineplus/ency/article/000039.htm 休克 10040560 Circulatory shock is not related to the emotional state of shock. Here is the Kumar and Parrilo definition of shock: "The state in which profound and widespread reduction of effective tissue perfusion leads first to reversible, and then if prolonged, to irreversible cellular injury". Reference: Kumar A, Parillo JE. Shock: pathophysiology, classification and approach to management. In: Parrillo JE, Parrillo JE, Bone RC (eds): Critical care medicine: Principles of diagnosis and management. Mosby: Toronto, 1995, pp 371-420. circulatory shock AE OAE:0000184 a psychiatric disorder AE that has an outcome of a loss of brain function and causes a long term and often gradual decrease in the ability to think and remember such that a person's daily functioning is affected. YH, MW WEB: https://en.wikipedia.org/wiki/Dementia 痴呆 10012272 Dementia is a loss of brain function that occurs with certain diseases or pathological processes. dementia AE HPO: HP_0000726 SIDER: C0497327 OAE:0000185 A vascular disorder AE that results in the presence of blood clot along the wall of a blood vessel, frequently causing vascular obstruction. Some authorities differentiate thrombus formation from simple coagulation or clot formation. SS, YH, MW 血栓症; 血栓生成 10043607 thrombosis AE HPO: HP_0004419 SIDER: C0040053 OAE:0000187 a metabolic disorder AE that has an outcome of cell death. SS, YH 10057248 cell death AE GO: GO_0008219 SIDER: C0007587 OAE:0000188 a respiratory system AE which has an outcome of some respiratory tract neoplasm. YH 10029107 respiratory tract neoplasm AE OAE:0000194 an inflammation AE that shows the result of an inflammation located in a vein, usually in the legs. YH, MW 10034879 phlebitis AE CTCAE:E13815 HPO: HP_0004419 NCIt:C38003 SIDER: C0031542 OAE:0000195 a liver, biliary, and pancreatic AE that has an outcome of pancreatitis. YH, MW 10033645 10033646 pancreatitis AE CTCAE: E10930 HPO: HP_0001733 NCIt: C3306 SIDER: C0030305 OAE:0000196 a cell death AE that has an outcome of apoptosis, a form of programmed cell death that occurs in multicellular organisms. SS, YH https://en.wikipedia.org/wiki/Apoptosis 10059512 apoptosis AE OAE:0000197 a cell death AE that has an outcome of necrosis SS, YH necrosis AE HPO: HP_0003713 SIDER: C0027540 OAE:0000198 A cardiovascular disorder AE that results in Insufficient blood supply for the need of a part of the body, usually as a result of a disease of the blood vessels supplying that part. SS, YH ischaemia AE 10061255 Note: also spelt ischemia. ischemia AE HPO: HP_0002597 SIDER: C0022116 OAE:0000199 an adverse event that occurs in hair, skin, or nail. hair, skin, and nail AE YH, SS, JX hair, skin or nail AE OAE:0000200 a hair, skin, and nail AE that occurs in hair. YH, SS hair AE OAE:0000201 a hair, skin, and nail AE that occurs in nail. YH, SS nail AE OAE:0000202 a metabolism, endocrine, and exocrine system AE that occurs in endocrine system. 10014698 YH, SS endocrine system AE OAE:0000203 a metabolism, endocrine, and exocrine system AE that occurs in exocrine system YH, SS exocrine system AE OAE:0000204 an adverse event that displays a congential and genetic disorder. congenital abnormality AE 10010331 YH, SS congenital AE OAE:0000205 a muscular weakness AE that shows weakness or inability to move a body part, often used to describe a neurologic condition. WEB: https://en.wikipedia.org/wiki/Paresis 局部麻痹 10033800 Neurologists use the term paresis to describe weakness, and plegia to describe paralysis in which all voluntary movement is lost. (Reference: https://en.wikipedia.org/wiki/Paresis) paresis AE HPO: HP_0008153 SIDER: C0030552 OAE:0000206 a syndrome AE that has an outcome of cystic fibrosis, an inherited disease that affects the lungs, digestive system, sweat glands, and male fertility. YH WEB: http://medical-dictionary.thefreedictionary.com/cystic+fibrosis 10011762 cystic fibrosis AE HPO: HP_0006552 SIDER: C0010674 OAE:0000207 a tumore AE that results in the outcome of hyperplasia, an abnormal increase in the number of normal cells in normal arrangement in an organ or tissue, which increases its volume. YH, SS hyperplasia AE HPO: HP_0010279 SIDER: C0020507 OAE:0000208 an adverse event that displays a disorder in abdomen. YH, SS abdominal AE OAE:0000209 an adverse event that results in genetic disorder. genetic disorder AE YH, SS genetic AE OAE:0000210 a liver, biliary, and pancreatic AE that has an outcome of hepatitis. YH hepatitis AE HPO: HP_0006562 SIDER: C0019158 OAE:0000211 an adverse event that displays an outcome of ulcer. YH, SS ulcer AE HPO: HP_0005229 SIDER: C0041582 OAE:0000212 a musculoskeletal and connective tissue AE that displays an outcome of fistula, a permanent abnormal passageway between two organs in the body or between an organ and the exterior of the body. WEB: http://medical-dictionary.thefreedictionary.com/fistula 10067143 YH, SS fistula AE HPO: HP_0010294 SIDER: C0016169 OAE:0000213 an abnormal fluid regulation AE which has an outcome of extravasation, a discharge or escape, as of blood, from a vessel into the tissues. YH, SS WEB: http://medical-dictionary.thefreedictionary.com/extravasation 10015866 extravasation AE OAE:0000214 an adverse event that displays an outcome of an sclerosis, the stiffening of a structure, usually caused by a replacement of the normal organ-specific tissue with connective tissue. YH, SS sclerosis AE OAE:0000215 a crying abnormal AE that has an outcome of abnormal inconsolable crying in a patient YH 10065283 inconsolable crying AE OAE:0000216 a crying abnormal AE that has an outcome of abnormal unusual high-pitched crying in a patient YH unusual high-pitched crying AE OAE:0000217 a crying abnormal AE that has an outcome of abnormal prolonged crying in a patient YH prolonged crying AE OAE:0000218 a decreased heart rate AE that results in a resting heart rate of under 60 beats per minutes (BPM). WEB: http://en.wikipedia.org/wiki/Bradycardia WEB: http://medical-dictionary.thefreedictionary.com/bradycardia 10006093 bradycardia AE HPO: HP_0001662 SIDER: C0428977 OAE:0000219 an adverse event that displays a disorder associated with child birth, newborn infant, or an infant. pregnancy, neonatal and perinatal disorder AE 10036585 YH, JX prenatal, perinatal or neonatal disorder AE OAE:0000222 a bupropion-induced adverse event that is induced by aplenzin administration YH aplenzin-induced adverse event OAE:0000226 an adverse event that occurs in the site of a medical intervention (e.g., vaccination injection site). YH application site reaction 10003055 medical intervention site AE OAE:0000231 A pregnancy, neonatal and perinatal AE that displays a disorder associated with newborn infant or an infant. YH neonatal AE OAE:0000232 A pregnancy, neonatal and perinatal AE that displays a disorder associated with childbirth YH perinatal AE OAE:0000236 a vascular disorder AE that affects the artery SS arterial disease AE arterial disorder AE HPO: HP_0002620 SIDER: C0852949 OAE:0000237 an artery disorder AE that is characterized by a narrowing of the blood vessels outside of the heart. SS peripheral artery disease AE peripheral artery disorder AE WEB: http://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v%3Aproject=medlineplus&query=peripheral+arterial+disease 10067825 peripheral arterial disease AE HPO: HP_0004950 SIDER: C1704436 OAE:0000238 an autoimmune disease AE that shows a symptom of dry red patches on the skin. SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/psoriasis WEB: https://en.wikipedia.org/wiki/Psoriasis 10037153 psoriasis AE HPO: HP_0003765 SIDER: C0033860 OAE:0000239 a distal sensory neuropathy AE characterized by an increase in degree (cumulative) AG, YH cumulative distal sensory neuropathy AE OAE:0000240 a behavior and neurological AE that has an outcome of stress in a patient YH stress AE OAE:0000241 an abscess AE that has an outcome of a pocket of infected fluid and pus located inside the abdominal cavity DJ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/000212.htm 10060921 abdominal abscess AE OAE:0000242 a discomfort AE that has an outcome of a stomach ache DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/Abdominal+discomfort 10000059 abdominal discomfort AE HPO: HP_0002027 SIDER: C0232487 OAE:0000243 a sensory capability AE that results in a sensation of elevated abdominal pressure and volume DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0003609/ 10000060 abdominal distension AE CTCAE: E10456 HPO: HP_0003270 NCIt: C78161 SIDER: C0000731 OAE:0000244 a sepsis AE that has an outcome of sepsis in the abdominal area DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001687/ 10058040 abdominal sepsis AE OAE:0000245 an abdominal abscess AE that has an outcome of a collection of pus in the abdominal wall, causes inflammation DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002329/ 10000099 abdominal wall abscess AE OAE:0000247 a behavioral and neurological AE that results in odd dreams DJ, SS, YH 10000125 abnormal dreams AE OAE:0000248 an abortion AE that has an outcome of expulsion of a fetus from the uterus brought on intentionally by medication or instrumentation DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/induced+abortion 10000220 abortion induced AE OAE:0000249 an abortion AE that results in a miscarriage DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002458/ 10000234 abortion spontaneous AE HPO: HP_0005268 SIDER: C0000786 OAE:0000250 a skin AE that is characterized by pimples generally on the face, chest and back, caused by clogging of the pores DJ, SS, YH acne vulgaris AE WEB: http://medical-dictionary.thefreedictionary.com/acne 10000496 acne AE HPO: HP_0001061 SIDER: C0702166 OAE:0000251 a immune system disorder AE that is caused by the HIV virus DJ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/hivaids.html 10000565 acquired immunodeficiency syndrome AE HPO: HP_0002721 SIDER: C0001175 OAE:0000252 a hematopoietic system AE that has an outcome of a prolonged time taken for blood to clot. The partial thromboplastin time (PTT) is a blood test that looks at how long it takes for blood to clot. PTT measures the efficacy of the comon coagulation pathways and helps tell if bleeding or clotting problems exist. DJ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/003653.htm 10000636 activated partial thromboplastin time prolonged AE CTCAE: E12073 HPO: HP_0003645 NCIt: C27028 SIDER: C0853223 OAE:0000253 a digestive system AE that has an outcome of a complication during stem cell or bone marrow transplant in which the newly transplanted donor cells in the intestine attack the transplant recipient's body DJ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/001309.htm 10066264 acute graft versus host disease in intestine AE OAE:0000254 a skin AE that has an outcome of a complication during stem cell or bone marrow transplant in which the newly transplanted donor cells in the skin attack the transplant recipient's body DJ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/001309.htm 10066262 acute graft versus host disease in skin AE OAE:0000255 a hematopoietic system AE that has an outcome of a type of acute leukemia, characterized by anemia, fatigue, weight loss, easy bruising, thrombocytopenia, granulocytopenia with bacterial infections, and bone pain DJ, SS, YH acute lymphocytic leukaemia AE WEB: http://medical-dictionary.thefreedictionary.com/Blast+count 10000846 acute lymphocytic leukemia AE HPO: HP_0006721 SIDER: C0023449 OAE:0000256 a hematopoietic system AE that has an outcome of the reoccurance of fast-growing cancer of the white blood cells where abnormal blasts do not fight infections after a period of remission DJ, SS, YH acute lymphocytic leukaemia recurrent AE WEB: http://marrow.org/Patient/Disease_and_Treatment/About_Your_Disease/ALL/Acute_Lymphoblastic_Leukemia_(ALL).aspx 10063620 acute lymphocytic leukemia recurrent AE OAE:0000257 a hematopoietic system AE that has an outcome of cancer in the myeloid line of blood cells, characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells DJ, SS, YH acute myeloid leukaemia AE WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001569/ 10000880 acute myeloid leukemia AE HPO: HP_0004808 SIDER: C0023467 OAE:0000258 an acute myeloid leukemia AE that shows an recurrence of acute myeloid leukemia DJ, SS, YH acute myeloid leukaemia recurrent AE WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001569/ 10059034 acute myeloid leukemia recurrent AE OAE:0000259 a lung disorder AE that has the outcome fluid accumulation in the air spaces and parenchyma of the lungs with rapid onset DJ, SS, YH acute pulmonary oedema AE WEB: http://medical-dictionary.thefreedictionary.com/Acute+pulmonary+edema 10001029 acute pulmonary edema AE HPO: HP_0100598 SIDER: C0155919 OAE:0000260 a respiratory distress AE that prevents enough oxygen from getting to the lungs and into the blood DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001164/ 10001052 acute respiratory distress syndrome AE HPO: HP_0002093 SIDER: C0035222 OAE:0000261 a lung disorder AE that has an outcome of a condition in which not enough oxygen passes from the lungs into the blood, with rapid onset DJ, SS, YH, MW WEB: http://www.nhlbi.nih.gov/health/health-topics/topics/rf/ 10001053 acute respiratory failure AE HPO: HP_0002093 SIDER: C0264490 OAE:0000262 a syncope AE that results in sudden episodes of fainting and sometimes seizures DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1518479/ 10001115 adams-stokes syndrome AE OAE:0000263 a reproductive system AE that results in the thickening of the walls of the uterus. This ccurs when endometrial tissue, which normally lines the uterus, moves into the outer muscular walls of the uterus. DJ, SS, YH endrometriosis interma AE WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002481/ 10056268 adenomyosis AE OAE:0000264 a viral infection that occurs in the respiratory system and has an outcome of viral infection by nonenveloped icosahedral viruses causing illness in the respiratory system DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/Adenovirus+Infections 10060931 adenovirus infection AE HPO: HP_0004429 SIDER: C0001486 OAE:0000265 a tumor AE that results in an abnormal number of cells proliferating on the kidney(s) DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/22486993 10061588 adrenal neoplasm AE OAE:0000266 an endocrine system AE that results in the suppression of the functions of the adrenal glands DJ, SS, YH 10001382 adrenal suppression AE OAE:0000267 a behavior and neurological AE that results in an increase in hostile behavior DJ, SS, YH 10001488 aggression AE HPO: HP_0000718 SIDER: C0001807 OAE:0000268 a hematopoietic system AE that has an outcome of acute leukopenia, or lowered white blood cell count, most commonly of neutrophils causing neutropenia in circulating blood JX, DJ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/001295.htm 粒性白血球缺乏症 10001507 agranulocytosis AE HPO: HP_0001913 SIDER: C0001824 OAE:0000269 an embolism AE that is caused by an air bubble in the vessel DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/23295634 10001526 air embolism AE OAE:0000270 a liver related investigation result abnormal AE that has an outcome of an abnormal blood level of alanine aminotransferase DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/23139615 10001547 alanine aminotransferase level abnormal AE OAE:0000271 an alanine aminotransferase level abnormal AE that has an outcome of a decrease in alanine aminotransferase level in body DJ, SS, YH, EB WEB: http://www.ncbi.nlm.nih.gov/pubmed/23139615 10001549 alanine aminotransferase level decreased AE OAE:0000272 an alanine aminotransferase level abnormal AE that has an outcome of elevated levels of alanine transaminase, an enzyme most commonly found in the liver DJ, SS, YH, EB WEB: http://www.ncbi.nlm.nih.gov/pubmed/23139615 10001551 alanine aminotransferase level increased AE CTCAE: E12077 NCIt: C26948 OAE:0000273 a liver/biliary system AE that is characterized by liver disease caused by the patient's alcoholic activity DJ, SS, YH 10001627 alcoholic liver disease AE OAE:0000274 a behavior and neurological AE that has an outcome of significantly different waking beta wave state DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/20182997 10001854 altered state of consciousness AE OAE:0000275 a female reproductive system AE that is characterized by the absence of menstrual period in a woman of reproductive age DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/21942684 10001928 amenorrhoea AE HPO: HP_0000141 SIDER: C0002453 OAE:0000276 an abnormal fluid regulation AE that results in a decreased volume of amniotic fluid during pregnancy DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/22039031 10063356 amniotic fluid volume decreased AE OAE:0000277 an anus AE that has an outcome of a split or tear in the mucosa lining the lower rectum DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002116/ 10002153 anal fissure AE HPO: HP_0004378 SIDER: C0016167 OAE:0000278 an ulcer AE that has an outcome of an ulcer in the anal cavity DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/17073250 10002180 anal ulcer AE CTCAE: E10496 NCIt: C79536 OAE:0000279 a vascular disorder AE that has an outcome of a leakage at the site of the intersection of two blood vessels DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/23122582 10050456 anastomotic leak AE OAE:0000280 a cardiac disorder AE that is stable and shows the symptom of a chest pain due to ischemia of the heart DJ, SS, YH stable angina AE WEB: http://www.heart.org/HEARTORG/Conditions/HeartAttack/SymptomsDiagnosisofHeartAttack/Angina-Pectoris-Stable-Angina_UCM_437515_Article.jsp# WEB: http://www.ncbi.nlm.nih.gov/pubmed/23016723 10002383 angina pectoris AE HPO: HP_0001681 SIDER: C0002962 OAE:0000281 a angina AE that is unstable and has an outcome of a condition in which the heart doesn't get enough blood flow through the blood vessels of the heart muscle, may lead to heart attack. DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001250/ 10002388 angina unstable AE HPO: HP_0001681 SIDER: C0002965 OAE:0000282 an immunology and allergy investigation result abnormal AE that is characterized by antibodies present that are against cell-membrane phospholipids that provoke blood clots DJ, SS, YH, EB WEB: http://www.ncbi.nlm.nih.gov/pubmed/23231732 10048678 antiphospholipid antibodies positive AE OAE:0000283 a urinary system AE that has an outcome of the absence of urine formation DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/anuria 10002847 anuria AE HPO: HP_0100519 SIDER: C0003460 OAE:0000284 a vascular disorder AE that results in a condition affecting the aorta and aortic valves DJ, SS, YH WEB: http://www.rightdiagnosis.com/medical/aorta_disorder.htm 10058648 aortic disorder AE HPO: HP_0001679 SIDER: C0003493 OAE:0000285 a cardiac valve disease AE that has an outcome of inability of the aortic valve to function effectively DJ, SS, YH WEB: http://www.rightdiagnosis.com/a/aortic_valve_incompetence/intro.htm 10002915 aortic valve incompetence AE HPO: HP_0001659 SIDER: C0003504 OAE:0000286 a congenital abnormality AE with an outcome of defective development or congenital absense of an organ or tissue DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/737831 10002961 aplasia AE HPO: HP_0010515 SIDER: C0243065 OAE:0000287 Aplastic anaemia AE is an anemia AE that occurs when the bone marrow, and the blood stem cells that reside there are damaged. This causes a deficiency of all three blood cell types (pancytopenia): red blood cells (anemia), white blood cells (leukopenia), and platelets (thrombocytopenia). DJ, SS, JX, YH aplastic anemia WEB: http://www.ncbi.nlm.nih.gov/pubmed/23292240 再生障碍性贫血 10002967 aplastic anaemia AE HPO: HP_0001915 SIDER: C0002874 OAE:0000288 a serious AE that is due to an allergic brochospasm, which causes a serious problem with breathing and requires treatment in an emergency room. YH, JX URL: http://www.fda.gov/Safety/MedWatch/HowToReport/ucm053087.htm URL: https://en.wikipedia.org/wiki/Bronchospasm allergic brochospasm AE that requires treatment in emergency OAE:0000289 a hypersensitivity AE that occurs at the site of an application of a medical intervention (e.g., drug administration or vaccination). DJ, SS, YH 10063683 application site hypersensitivity AE OAE:0000290 an infection AE that occurs at the site of drug application DJ, SS, YH 10049041 application site infection AE OAE:0000291 a hemorrhage AE that has an outcome of bleeding in the arteries DJ, SS, YH arterial bleeding AE arterial haemorrhage AE 10060964 arterial hemorrhage AE OAE:0000292 CSF protein increased AE is an abnormal cerebrospinal fluid production that results in and increase in blood level CSF protein SS, YH 10011575 CSF protein increased AE OAE:0000293 a neurological, special senses and psychiatric investigation result abnormal AE that has an outcome of an abnormal result in the cerebrospinal fluid (CSF) collection test that examines the fluid that surrounds the brain and spinal cord This should be inferred as a "AE: lab test abnormal". SS, YH, EB WEB: www.nlm.nih.gov/medlineplus/ency/article/003428.htm 10059703 CSF test result abnormal AE OAE:0000294 Henoch-Schonlein purpura AE is a purpura AE, a systemic vasculitis (inflammation of blood vessels) characterized by deposition of immune complexes containing the antibody IgA in the skin and kidney. This results from some allergic response, SS, YH allergic purpura, anaphylactoid purpura, vascular purpura WEB: http://en.wikipedia.org/wiki/Henoch-Schonlein_purpura 10019617 Henoch-Schonlein purpura AE HPO: HP_0000979 SIDER: C0034152 OAE:0000295 SS, YH WEB: http://en.wikipedia.org/wiki/Abasia 10049460 a movement disorder AE that has an outcome of abasia, a movement disorder that results in and inability to walk due to impaired muscle coordination abasia AE HPO: HP_0002540 SIDER: C0877217 OAE:0000296 a stomach pain AE that is observed in upper stomach SS, YH 10000087 abdominal pain upper AE HPO: HP_0002027 SIDER: C0232492 OAE:0000297 a behavior and neurological AE that has an outcome of loss of taste functions of the tongue, particularly the inability to detect sweetness, sourness, bitterness, saltiness, and umami (the taste of monosodium glutamate). SS, YH WEB: http://en.wikipedia.org/wiki/Ageusia 10001480 ageusia AE OAE:0000298 a sensory neuropathy AE that has an outcome of chronic sensory neuropathy characterized by being persistent or long-lasting in nature AG, YH chronic sensory neuropathy AE OAE:0000299 a behavior and neurological AE that has an outcome of a lack of functioning olfaction, an inability to perceive odors SS, YH WEB: http://en.wikipedia.org/wiki/Olfaction 10002653 anosmia AE HPO: HP_0010632 SIDER: C0003126 OAE:0000300 a psychiatric disorder AE that has an outcome of a psychological and physiological state characterized by cognitive, somatic, emotional, and behavioral components. These components combine to create an unpleasant feeling that is typically associated with uneasiness, fear, or worry. SS, YH WEB: http://en.wikipedia.org/wiki/Anxiety 10002855 anxiety AE CTCAE: E12883 HPO: HP_0000739 NCIt: C26696 SIDER: C0003467 OAE:0000301 an arrhythmia AE that is characterized by rapid regular atrial contractions occurring usually at rates between 250 and 400 per minute and often producing saw-tooth waves in an electrocardiogram. SS AF auricular flutter WEB: http://medical-dictionary.thefreedictionary.com/atrial+flutter 10003662 atrial flutter AE CTCAE: E10087 HPO: HP_0004749 NCIt: C51224 SIDER: C0004239 OAE:0000302 a behavior and neurological AE that has an outcome of a disturbance that causes an individual to feel unsteady, giddy, woozy, or have a sensation of movement, spinning, or floating. SS, YH WEB: http://en.wikipedia.org/wiki/Balance_disorder 10049848 balance disorder AE HPO: HP_0002141 SIDER: C0575090 OAE:0000303 blister AE is a skin adverse event that results in a small pocket of fluid within the upper layers of the skin SS, YH WEB: http://en.wikipedia.org/wiki/Blister 10005191 blister AE HPO: HP_0008066 SIDER: C0005758 OAE:0000304 cellulitis AE is an inflammation AE that is a diffuse inflammation of connective tissue with severe inflammation of dermal and subcutaneous layers of the skin SS, YH WEB: http://en.wikipedia.org/wiki/Cellulitis 10007882 cellulitis AE HPO: HP_0003553 SIDER: C0007642 OAE:0000305 a behavior and neurological AE that has an outcome of a type of perspiration usually associated with anxiety or fear SS, YH WEB: http://en.wikipedia.org/wiki/Cold_sweat cold sweat AE OAE:0000306 convulsion AE is a muscle adverse event that results in a medical condition where body muscles contract and relax rapidly and repeatedly, resulting in an uncontrolled shaking of the body SS, YH WEB: http://en.wikipedia.org/wiki/Convulsion 10010904 convulsion AE HPO: HP_0001250 SIDER: C0009951 OAE:0000307 SS, YH a movement disorder AE that has an outcome of difficulty in walking properly difficulty in walking AE OAE:0000308 a behavior and neurological AE that has an outcome of distortion of the sense of taste SS, YH, MW WEB: http://en.wikipedia.org/wiki/Dysgeusia 10013911 dysgeusia AE CTCAE:E12643 HPO: HP_0000223 NCIt:C28145 SIDER: C0013378 OAE:0000309 a movement disorder AE that has an outcome of dyskinesia SS, YH WEB: http://en.wikipedia.org/wiki/Dyskinesia 10013916 dyskinesia is a movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements dyskinesia AE HPO: HP_0100660 SIDER: C0013384 OAE:0000310 An abnormal respiration AE that is characterized by a subjective experience of breathing discomfort that consists of qualitatively distinct sensations that vary in intensity. MedDRA: 10013968 is for "dyspnoea"; MedDRA: 10013963 is for "dyspnea". SS, YH air hunger dyspnoea shortness of breath WEB: http://en.wikipedia.org/wiki/Dyspnoea https://en.wikipedia.org/wiki/Shortness_of_breath https://www.mayoclinic.org/symptoms/shortness-of-breath/basics/definition/sym-20050890 呼吸困难 10013963 10013968 dyspnea AE CTCAE: E13368 HPO: HP_0002094 NCIt: C2998 SIDER: C0013404 UMLS CUI: C0013404 OAE:0000311 SS, YH, EB WEB: http://en.wikipedia.org/wiki/Electromyography 10014431 a neurological, special senses and psychiatric investigation result abnormal AE that has an outcome of abnormal activity in skeletal muscles evaluted and measured by electromyography electromyogram result abnormal AE OAE:0000312 eye irritation AE is an eye disorder AE that results in mild eye redness, itching, or tearing SS, YH WEB: http://www.freemd.com/eye-irritation/ 10015946 eye irritation AE HPO: HP_0000478 SIDER: C0235266 OAE:0000313 eye pruritus AE is a pruritus AE (an unpleasant sensation that evokes the desire or reflex to scratch) at the eye area SS, YH 10052140 eye pruritus AE HPO: HP_0000989 SIDER: C0022281 OAE:0000314 glomerulonephritis AE is a kidney disorder AE that results in a renal disease that is characterized by inflammation of the glomeruli, or small blood vessels in the kidneys. SS, YH glomerular nephritis AE WEB: http://en.wikipedia.org/wiki/Glomerulonephritis glomerulonephritis AE HPO: HP_0000099 SIDER: C0017658 OAE:0000315 A conduction system disorder AE that is a condition in which the electrical impulse from the bundle of His to the ventricles is delayed or fails to conduct along the right bundle branch, resulting in right ventricular depolarization by cell-to-cell conduction spreading from the interventricular septum and left ventricle to the right ventricle–ie, slow and uncoordinated Natural history Surgically induced RBBB has few acute hemodynamic consequences and a generally benign course long term; rarely, progression to complete heart block and sudden death occur, especially if accompanied by major His-Purkinje system–eg, left anterior hemiblock, first-degree AV block–injury; tetralogy of Fallot repair with an RBBB and a markedly prolonged QRS duration >180 ms have an ↑ risk for ventricular arrhythmias and sudden death. SS RBBB right bundle branch block WEB: http://medical-dictionary.thefreedictionary.com/right+bundle+branch+block 10006582 bundle branch block right AE HPO: HP_0011712 SIDER: C0085615 OAE:0000316 a cardiac disorder AE of the electrical conduction system that controls the heart rate, generates and conducts electrical impulses throughout the muscle of the heart, stimulating the heart to contract and pump blood. SS cardiac conduction disorder AE conduction disorder AE WEB: http://www.medterms.com/script/main/art.asp?articlekey=8407 10000032 10010276 conduction system disorder AE CTCAE: E10114 NCIt: C78245 OAE:0000317 a sensory capability AE that has an outcome of hypoaesthesia, meaning that skin loses some of its sensitivity to pain or touch SS, YH disesthesia AE hypoaesthesia AE WEB:http://medguides.medicines.org.uk/document.aspx?name=hypoaesthesia 10020937 hypoesthesia AE HPO: HP_0010830 SIDER: C0020580 OAE:0000318 a thrombosis AE that has an outcome of a blood clot within an artery [SS] Per DRA and KKB's comment, arterial thrombosis may also be characterized as an embolism. DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/23236330 10003178 arterial thrombosis AE HPO: HP_0004420 SIDER: C0151942 OAE:0000319 a viral infection AE that demonstrates an influenza viral infection. Influenza is an infectious disease caused by RNA viruses of the family Orthomyxoviridae (the influenza viruses), that affects birds and mammals SS, YH WEB: http://en.wikipedia.org/wiki/Influenza influenza AE HPO: HP_0005376 MDR: 10022000 SIDER: C0021400 OAE:0000320 a coronary artery disease AE with the outcome hardening of the coronary artery due to a build up of waxy plaque on the inside of blood vessels DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/Coronary+Arteriosclerosis 10003211 arteriosclerosis coronary artery AE HPO: HP_0004929 SIDER: C0010054 OAE:0000321 injected limb mobility decreased AE is a mobility decreased AE that occurs in the limb in which injection is administered SS, YH injected limb mobility decreased AE OAE:0000322 a haematoma AE that has an outcome of injection-site haematoma, which results in a collection of blood outside the blood vessels at the physical area of injection SS, YH injection-site haematoma AE WEB: http://medical-dictionary.thefreedictionary.com/hematoma http://en.wikipedia.org/wiki/Hematoma 10022066 injection-site hematoma AE OAE:0000323 injection-site induration AE is an skin AE that results in hardening or thickening of tissue at the physical injection site SS, YH WEB: http://wordnetweb.princeton.edu/perl/webwn?s=induration injection-site induration AE OAE:0000324 injection-site pruritus AE is an pruritus AE that results in an unpleasant sensation that evokes the desire or reflex to scratch at the physical area of injection SS, YH WEB: http://en.wikipedia.org/wiki/Itch WEB: http://medical-dictionary.thefreedictionary.com/pruritus 10022093 injection-site pruritus AE OAE:0000325 injection-site rash AE is a rash AE that results in a change of the skin which affects its color, appearance or texture at the physical injection site SS, YH WEB: http://en.wikipedia.org/wiki/Rash injection-site rash AE OAE:0000326 injection-site warmth AE is a homeostasis AE that results in feeling of warmth at the physical injection site SS, YH injection-site warmth AE OAE:0000327 A joint disorder AE that has an outcome of joint swelling, which is a joint disorder that results in a buildup of fluid in the soft tissue surrounding the joint SS, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/003262.htm 10023232 joint swelling AE HPO: HP_0005833 SIDER: C0152031 OAE:0000328 an adverse event that occurs in kidney. SS, YH, DA abnormal renal function AE renal disorder AE https://medlineplus.gov/ency/article/001265.htm 10038428 kidney AE OAE:0000329 a behavior and neurological AE that has an outcome of an increase in production, secretion, and shedding of tears SS, YH WEB: http://en.wikipedia.org/wiki/Tears WEB: http://www.medterms.com/script/main/art.asp?articlekey=6199 10023644 lacrimation increased AE HPO: HP_0009926 SIDER: C0152227 OAE:0000330 lip swelling AE is an edema (swelling) AE that results in enlargement or protuberance in the lip SS, YH WEB: http://en.wikipedia.org/wiki/Swelling_%28medical%29 10024570 lip swelling AE HPO: HP_0000159 SIDER: C0240211 OAE:0000331 A lymphadenopathy AE that results in swollen/enlarged lymph nodes SS, YH WEB: http://en.wikipedia.org/wiki/Lymphadenopathy lymphadenitis AE HPO: HP_0002840 SIDER: C0024205 OAE:0000332 mobility decreased AE is a nervous system AE that results in difficulty in movement leading to less ability to move part(s) of body SS, YH 10048334 mobility decreased AE HPO: HP_0006217 SIDER: C0700572 OAE:0000333 a muscle AE that has an outcome of muscular weakness AE (i.e., lack of muscle strength). SS, YH WEB: http://en.wikipedia.org/wiki/Muscular_weakness 10028372 muscular weakness AE HPO: HP_0001324 SIDER: C0151786 OAE:0000334 a sensory capability AE that has an outcome of a sensation of stiffness in muscles and skeleton SS, YH 10052904 musculoskeletal stiffness AE HPO: HP_0003552 SIDER: C0948525 OAE:0000335 nasal congestion AE is a respiratory system AE that results in a blockage of the nasal passages usually due to membranes lining the nose becoming swollen from inflamed blood vessels SS, YH WEB: http://en.wikipedia.org/wiki/Nasal_congestion 10028735 nasal congestion AE CTCAE: E13450 HPO: HP_0001742 NCIt: C78500 SIDER: C0027424 OAE:0000336 a respiratory system inflammation AE which has an outcome of nasopharyngitis, a respiratory system inflammation that results in common cold, a contagious, viral infectious disease of the upper respiratory system a respiratory system inflammation AE which has an outcome of nasopharyngitis, a respiratory system inflammation that results in common cold, a contagious, viral infectious disease of the upper respiratory system SS, YH common cold AE WEB: http://en.wikipedia.org/wiki/Nasopharyngitis nasopharyngitis AE HPO: HP_0002087 SIDER: C0027441 OAE:0000337 an neuropathy AE that results in a damage to the peripheral nervous system (PNS, outside the brain and spinal cord), the vast communication network that transmits information from the brain and the spinal cord (the central nervous system) to every other part of the body. SS, YH neuropathy peripheral AE WEB: http://en.wikipedia.org/wiki/Peripheral_neuropathy WEB: http://www.ninds.nih.gov/disorders/peripheralneuropathy/detail_peripheralneuropathy.htm 10029331 peripheral neuropathy AE OAE:0000338 ocular hyperaemia AE is an eye disorder AE that results in severe redness and irritation of the eyes SS, YH ocular hyperaemia AE WEB: http://www.med.miami.edu/news/view.asp?id=259 10030041 ocular hyperemia AE OAE:0000339 a pain AE that has an outcome of oropharyngeal pain SS, YH WEB: http://en.wikipedia.org/wiki/Oropharyngeal_airway 10068319 oropharyngeal pain is a pain in oral airway oropharyngeal pain AE HPO: HP_0010833 SIDER: C2363731 OAE:0000340 an ear disorder AE which has an outcome of otitis media that results in inflammation of the middle ear, or middle ear infection SS, YH WEB: http://en.wikipedia.org/wiki/Otitis_media 10033078 otitis media AE CTCAE: E11477 HPO: HP_0008623 NCIt: C34885 SIDER: C0029882 OAE:0000341 an inflammation AE that has an outcome of pericaditis, which is a cardiovascular disorder that results in a condition in which the sac-like covering around the heart (pericardium) becomes inflamed SS, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/000182.htm 10034484 pericarditis AE CTCAE: E10180 HPO: HP_0001701 NCIt: C34915 SIDER: C0031046 OAE:0000342 pharyngeal edema AE is an edema AE that results in an bbnormal fluid accumulation in TISSUES or body cavities in pharynx (throat swelling). SS, YH pharyngeal oedema AE WEB: http://www.ncbi.nlm.nih.gov/mesh/68004487?ordinalpos=1&itool=EntrezSystem2.PEntrez.Mesh.Mesh_ResultsPanel.Mesh_RVDocSum pharyngeal edema AE OAE:0000343 pharyngitis AE is a digestive system AE that results in an inflammation of the throat or pharynx SS, YH WEB: http://en.wikipedia.org/wiki/Pharyngitis 10034835 pharyngitis AE CTCAE: E11525 HPO: HP_0100776 NCIt: C26851 SIDER: C0031350 OAE:0000344 a pain AE that shows a pain in sinus and throat SS, YH, MW WEB: http://www.wordinfo.info/words/index/info/view_unit/1631/ 10034844 pharyngolaryngeal pain AE CTCAE: E13482 HPO: HP_0010833 NCIt: C78556 SIDER: C0858635 OAE:0000345 rash macular AE is a rash AE that results in a skin eruption in which the lesions are flat and less than 1 cm in diameter SS, YH rash macular AE WEB: http://medical-dictionary.thefreedictionary.com/macular+rash macular rash AE HPO: HP_0000988 SIDER: C0221201 OAE:0000346 a rash AE that shows clustered papules, i.e., small, round, raised bumps that have clear borders. SS, YH rash papular AE WEB: http://en.wikipedia.org/wiki/Rash WEB: http://www.healthline.com/symptom/papule WEB: http://www.rightdiagnosis.com/sym/papular_rash.htm 10037876 papular rash AE HPO: HP_0007432 SIDER: C0221202 OAE:0000347 A respiratory system AE thta is characterized by inflammation of the lung parenchyma leading to impaired gas exchange with concomitant systemic release of inflammatory mediators causing inflammation, hypoxemia and frequently resulting in multiple organ failure. SS, YH WEB: http://en.wikipedia.org/wiki/Acute_respiratory_distress_syndrome 10038687 respiratory distress AE HPO: HP_0002747 SIDER: C0476273 OAE:0000348 respiratory tract congestion AE is a respiratory system AE that results in congestion in respiratory tract SS, YH respiratory tract congestion AE OAE:0000349 retching AE is a digestive system AE that results in a process in the human body where gastric (and sometimes duodenal) contents are forced into the esophagus, but do not enter the pharynx SS, YH WEB: http://en.wikipedia.org/wiki/Retching 10038776 retching AE OAE:0000350 rhinitis AE is a respiratory system inflammation characterized by runny nose,irritation and inflammation of some internal areas of the nose SS, YH runny nose WEB: http://en.wikipedia.org/wiki/Rhinitis WEB: http://medical-dictionary.thefreedictionary.com/rhinitis 10028116 rhinitis AE HPO: HP_0002257 SIDER: C0035455 OAE:0000351 rhinorrhoea AE is a respiratory system AE that results in runny nose, an unusually significant amount of nasal fluid SS, YH rhinorrhoea AE WEB: http://en.wikipedia.org/wiki/Rhinorrhoea rhinorrhea AE OAE:0000352 a pain AE that occurs in shoulder shoulder pain is a pain iin or around the shoulder joint SS, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/003171.htm shoulder pain AE OAE:0000353 sinus congestion AE is a nasal congestion AE that results in blockage of the air cavities in the cranial bones or nasal passages usually due to membranes lining the nose becoming swollen from inflamed blood vessels SS, YH WEB: http://en.wikipedia.org/wiki/Sinus_%28anatomy%29, http://en.wikipedia.org/wiki/Nasal_congestion sinus congestion AE HPO: HP_0002257 SIDER: C0152029 OAE:0000354 sneezing AE is a respiratory system adverse event that results in sternutation, a semi-autonomous, convulsive expulsion of air from the lungs through the nose and mouth, usually caused by foreign particles irritating the nasal mucosa SS, YH, MW sternutation WEB: http://en.wikipedia.org/wiki/Sneezing 10041232 sneezing AE CTCAE:E13572 NCIt:C50746 OAE:0000355 an increased heart rate AE where the heart rate exceeds the normal range for a resting heartrate (heartrate in an inactive or sleeping individual) SS, YH WEB: http://en.wikipedia.org/wiki/Tachycardia 10043071 tachycardia AE HPO: HP_0001649 SIDER: C0039231 OAE:0000356 a tendon disorder AE that has an outcome of tendonitis SS, YH tendinitis AE WEB: http://en.wikipedia.org/wiki/Tendinitis tendonitis is a tendon disorder that results in an inflammation of a tendon tendonitis AE HPO: HP_0100261 SIDER: C0039503 OAE:0000357 a sensory capability AE that has an outcome of a sensation of tightness in the throat 10043528 throat tightness AE OAE:0000358 an infection AE is a respiratory system AE that results in illnesses caused by an acute infection which involves the upper respiratory tract: nose, sinuses, pharynx or larynx SS, YH URI, URTI WEB: http://en.wikipedia.org/wiki/Upper_respiratory_tract_infection 10046300 upper respiratory tract infection AE CTCAE: E11604 HPO: HP_0002788 NCIt: C35650 SIDER: C0041912 OAE:0000359 a viral infection AE that results in an acute contagious diseased caused by herpes varicella zoster virus; causes a rash of vesicles on the face and body. SS, YH chicken pox AE varicella zoster virus infection AE WEB: http://wordnetweb.princeton.edu/perl/webwn?s=varicella varicella AE HPO: HP_0005428 SIDER: C0008049 OAE:0000360 a paresthesia AE that occurs in oral area. SS, YH paraesthesia oral AE http://www.answers.com/topic/oral-paresthesia 10057372 paraesthesia oral is a paresthesia that results in a numbness or tingling that occurs in the mucosa or tissues of the oral cavity. paresthesia oral AE HPO: HP_0003401 SIDER: C0521591 OAE:0000361 an abnormal body temperature AE which has an outcome of fever YH, SS, MW body temperature increased AE febrile response pyrexia AE Axelrod YK1, Diringer MN. Temperature management in acute neurologic disorders. Neurol Clin. 2008 May;26(2):585-603, xi. doi: 10.1016/j.ncl.2008.02.005. PMID: 18514828. WEB: http://en.wikipedia.org/wiki/Pyrexia 10005911 10016558 10037660 Fever is a frequent medical sign that describes an increase in internal body temperature to levels above normal. Fever is characterized as a temporary elevation in the body's thermoregulatory set-point, usually by about 1-2 °F). fever AE CTCAE: E11102 NCIt: C3038 OAE:0000362 a skin AE that shows the symptom of rash, i.e., an abnormal change in skin color, appearance, or texture. A rash may cause the skin to change color, itch, become warm, bumpy, dry, cracked or blistered, swell and may be painful. YH URL: http://en.wikipedia.org/wiki/Rash URL: http://www.webmd.com/skin-problems-and-treatments/guide/common-rashes Wick JY. Drug-induced rash: nuisance or threat? Consult Pharm. 2013 Mar;28(3):160-6. PMID: 23462025. 10037844 Drug-induced rash is the most commonly reported drug reaction. rash AE HPO: HP_0000988 SIDER: C0015230 OAE:0000363 an adverse event that has an outcome of a pathogen infection, i.e., an infection caused by a pathogen such as a virus, bacterium, or parasite. change of name from 'infection adverse event' to 'infectious adverse event' on 09/23/13 for a better clinical relevance, move 'infection adverse event' as an alternative term - SS YH, JX infectious adverse event WEB: http://medical-dictionary.thefreedictionary.com/infection infection 10021789 infection AE OAE:0000364 An AE that has an outcome of syndrome. Syndrome is the association of several clinically recognizable features, signs (observed by a physician), symptoms (reported by the patient), phenomena or characteristics that often occur together, so that the presence of one feature alerts the physician to the presence of the others. YH syndrome AE OAE:0000365 a psychiatric disorder AE that has an outcome of emotional state of excitement or restlessness YH, MW 10001497 agitation AE CTCAE:E12874 HPO: HP_0000711 NCIt:C79530 SIDER: C0085631 OAE:0000366 injection-site AE is an AE that occurs in an injection site (e.g., during vaccination). YH, JX, SS injection site AE injection-site adverse event injection-site reaction local reaction AE 10022095 injection-site AE CTCAE: E11138 NCIt: C3508 OAE:0000367 a hypersensitivity AE which has an outcome of injection-site hypersensitivity YH injection-site hypersensitivity AE OAE:0000368 an edema AE which occurs at the injection site. In this case, a collection of fluid at the injection site is found. YH, RR injection-site oedema AE injection-site swelling AE WEB: http://www.uptodate.com/contents/edema-swelling-beyond-the-basics 10053425 injection-site edema AE OAE:0000369 a pain AE that occurs in an injection site of a medical intervention YH 10022086 injection-site pain AE OAE:0000370 an inflammation AE which has an outcome of injection-site inflammation YH injection-site inflammation AE OAE:0000371 a hemorrhage AE that has an outcome of injection-site hemorrhage YH 10022067 injection-site hemorrhage AE OAE:0000372 a tumor or mass AE that occurs in an injection-site YH, SS injection site nodule AE injection-site mass is a mass at physical injection site injection-site mass AE OAE:0000373 a skin adverse event that has an outcome of pruritus YH, SS, MW itch itching pruritus generalised AE WEB: http://www.ncbi.nlm.nih.gov/sites/entrez?db=mesh&cmd=DetailsSearch&term=pruritus+generalised&log$=activity 10037087 Pruritus is an itch (Latin: pruritus), i.e., an unpleasant sensation that evokes the desire or reflex to scratch. pruritus AE CTCAE:E13686 HPO: HP_0000989 NCIt:C3344 SIDER: C0033774 OAE:0000374 a sensory capability AE that has an outcome of pain in a patient YH, MW 10033371 pain AE CTCAE: E11167 HPO: HP_0010833 NCIt: C3303 SIDER: C0030193 OAE:0000375 a pain AE that has outcome of myalgia. Myalgia means "muscle pain" and is a symptom of many diseases and disorders. YH, MW muscle pain AE 10028411 myalgia AE CTCAE:E12485 HPO: HP_0003326 NCIt:C27009 SIDER: C0231528 OAE:0000376 Urticaria AE is a rash AE notable for dark red, raised, itchy bumps. YH, MW hives 10046735 urticaria AE CTCAE:E13746 HPO: HP_0001025 NCIt:C3432 SIDER: C0042109 OAE:0000377 a pain AE that has an outcome of headache YH, MW 10019211 headache AE CTCAE: E12678 HPO: HP_0002315 NCIt: C34661 SIDER: C0018681 OAE:0000378 an AE that occurs in respiratory system. I created this term and make it to be an umbrella term for different disorder terms related to respiratory system. --Oliver He YH respiratory system AE OAE:0000379 a leukocyte cell number abnormal AE that has an outcome of greater than normal number of leukocytes, or nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue According to the Vaccine Adverse Event Reporting System (VAERS), 'leukocytosis' is an adverse event that was mentioned in 1,021 VAERS reports (0.8%) during1991-2001 (Reference: PMID: 12825543). SS, YH, EB increased leukocyte cell number AE leukocytosis AE white blood cell count increased AE WEB: http://en.wikipedia.org/wiki/Leukocytosis 10024378 10047943 leukocyte cell number increased AE CTCAE: E10048 MP: MP_0000218 NCIt: C35524 OAE:0000380 a leukocyte cell number abnormal AE that has an outcome of reduction in the number of leukocytes, or of nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue According to the Vaccine Adverse Event Reporting System (VAERS), 'leukopenia' is an adverse event that was mentioned in 417 VAERS reports (0.3%) during1991-2001 (Reference: PMID: 12825543). decreased leukocyte cell number AE white blood cell count decreased AE 10047942 leukocyte cell number decreased AE CTCAE: E12232 MP: MP_0000221 NCIt: C26816 OAE:0000381 a cardiovascular disorder AE that has an outcome of abnormal blood pressure, representing altered tension of the blood within the systemic arteries abnormal blood pressure AE MP: MP_0000230 OAE:0000382 a muscle adverse event which has an outcome of asthenia, which is a medical term denoting symptoms of physical weakness and loss of strength. YH 10003549 asthenia AE HPO: HP_0001324 SIDER: C0004093 OAE:0000383 a muscle pain AE that has an outcome of muscle ache. YH muscle ache AE OAE:0000384 A rash AE that shows a flat, red area on the skin overed with small confluent bumps. YH, MW maculopapular rash AE rash maculo-papular AE rash maculopapular AE WEB: http://en.wikipedia.org/wiki/Maculopapular_rash 10037868 The term "maculopapular" is a compound: macules are small, flat discolored spots on the surface of the skin; and papules are small, raised bumps. maculo-papular rash AE CTCAE:E13700 NCIt:C75579 OAE:0000385 An joint disorder AE that has an outcome of arthralgia. Arthralgia means joint pain. It is a symptom of injury, infection, illnesses (in particular arthritis) or an allergic reaction to medication. According to MeSH, the term "arthralgia" should only be used when the condition is non-inflammatory, and the term "arthritis" should be used when the condition is inflammatory. YH, MW 10003239 arthralgia AE CTCAE:E12374 HPO: HP_0002829 NCIt:C50464 SIDER: C0003862 OAE:0000386 vesiculobullous rash AE is a rash AE characterized by serous-fluid-filled vesicles (blisters) YH vesiculobullous rash AE HPO: HP_0000988 SIDER: C0151883 OAE:0000387 a syndrome AE which has an outcome of screaming syndrome YH screaming syndrome AE OAE:0000388 a sensory capability AE that has an outcome of dizziness YH, SS, MW 10013573 Dizziness describes a number of subjective symptoms, which the patient may describe as feelings of lightheadedness, floating, wooziness, giddiness, confusion, disorientation or loss of balance. Medical terms include vertigo, disequilibrium, pre-syncope or syncoptic episode. Causes may stem from a variety of failures of equilibrioception, hypotension, cerebral hypoxia or a reaction to environmental chemicals or drugs. dizziness AE CTCAE:E12631 HPO: HP_0002321 NCIt:C37943 SIDER: C0012833 OAE:0000389 peripheral edema AE is an edema AE that results in swelling of tissues, usually in the lower limbs, due to the accumulation of fluids YH, SS edema peripheral AE oedema peripheral AE peripheral edema AE WEB: http://en.wikipedia.org/wiki/Peripheral_edema 10030124 10050068 edema limbs AE CTCAE: E11086 NCIt: C78262 OAE:0000390 a sensory capability AE that has an outcome of malaise YH 10025482 Malaise is a feeling of general discomfort or uneasiness, an "out of sorts" feeling. Malaise is often the first indication of an infection or other disease. Vaccination may induce malaise. malaise AE CTCAE: E11152 HPO: HP_0002321 NCIt: C3832 SIDER: C0231218 OAE:0000391 a behavior and neurological AE that has an outcome of somnolence YH, SS, MW drowsiness 10041349 Somnolence (or "drowsiness") is a state of near-sleep, a strong desire for sleep, or sleeping for unusually long periods (c.f. hypersomnia). somnolence AE CTCAE:E12814 HPO: HP_0001262 NCIt:C26754 SIDER: C2830004 OAE:0000392 a sensory neuropathy AE that shows a sensation of tingling, pricking, or numbness of a person's skin with no apparent long-term physical effect. YH, MW paraesthesia AE WEB: http://en.wikipedia.org/wiki/Paraesthesia 10033775 10033987 Paresthesia is more generally known as the feeling of "pins and needles" or of a limb being "asleep" (although this is not directly related to the phenomenon of sleep). The manifestation of paresthesia may be transient or chronic. paresthesia AE CTCAE: E12758 NCIt: C28177 OAE:0000393 a behavior and neurological AE that has an outcome of abnormal crying in a patient YH 10011469 crying abnormal AE OAE:0000394 a sensory capability AE that has an outcome of chills YH feeling cold AE 10008531 Chills refers to feeling cold after an exposure to a cold environment. The word can also refer to an episode of shivering, accompanied by paleness and feeling cold. chills AE CTCAE: E11074 HPO: HP_0001945 NCIt: C35143 SIDER: C0085593 OAE:0000395 a behavior and neurological AE that has an outcome of stupor YH 10042264 Stupor is the lack of critical cognitive function and level of consciousness wherein a sufferer is almost entirely unresponsive and only responds to base stimuli such as pain. The word derives from the Latin stupure, meaning insensible. Being characterised by impairments of reactions to external stimuli, in this case, vaccine immunization. stupor AE HPO: HP_0004372 SIDER: C0085628 OAE:0000396 a gustatory system AE which demonstrates a decreased sensation of appetite. YH, MW anorexia nervosa AE decreased appetite AE WEB: http://www.mayoclinic.org/diseases-conditions/anorexia/basics/definition/con-20033002 厌食症 10002646 10002649 10061428 anorexia AE CTCAE: E12252 HPO: HP_0002039 NCIt: C2875 SIDER: C0003123 OAE:0000397 face edema AE is an edema AE that results in facial swelling, the build-up of fluid in the tissues of the face. Swelling may also affect the neck and upper arms YH, SS, MW emema face AE face oedema AE oedema face AE WEB:http://www.nlm.nih.gov/medlineplus/ency/article/003105.htm swelling face 10014222 10016029 10042682 face edema AE CTCAE: E11082 NCIt: C78289 OAE:0000398 an abnormal respiration AE that shows a sudden and often repetitively occurring reflex to keep the throat and airways clear YH, SS, MW coughing AE WEB: http://medical-dictionary.thefreedictionary.com/cough WEB: http://www.nlm.nih.gov/medlineplus/cough.html cough 10011224 cough AE CTCAE:E13364 NCIt:C37935 OAE:0000399 a syndrome AE that has an outcome of a flu syndrome AE and occurs after a medical intervention. YH flu-like symptom AE flu syndrome AE CTCAE: E11108 NCIt: C78302 OAE:0000400 a sensory capability AE that has an outcome of loss of consciousness, fainting YH, SS, MW Syncope is the medical term for fainting, a sudden, usually temporary, loss of consciousness. fainting WEB: http://en.wikipedia.org/wiki/Syncope_%28medicine%29 WEB: http://en.wikipedia.org/wiki/Unconsciousness 10024855 10042772 syncope AE CTCAE: E12832 HPO: HP_0001279 NCIt: C35053 SIDER: C0039070 OAE:0000401 a skin adverse event that has an outcome of sweating According to the Vaccine Adverse Event Reporting System (VAERS), 'sweating' is an adverse event that was mentioned in 2,301 VAERS reports (1.8%) during1991-2001 (Reference: PMID: 12825543). YH sweating AE HPO: HP_0000975 SIDER: C0038990 OAE:0000402 According to the Vaccine Adverse Event Reporting System (VAERS), 'abdominal pain' is an adverse event that was mentioned in 2,254 VAERS reports (1.8%) during1991-2001 (Reference: PMID: 12825543). YH, SS WEB: http://en.wikipedia.org/wiki/Abdominal_pain 10000081 a pain AE that is observed in abdominal cavity abdominal pain AE HPO: HP_0002027 SIDER: C0000737 OAE:0000403 an abnormal blood pressure AE that has an outcome of sustained high blood pressure at a level that is likely to result in cardiovascular disease and/or other pathological states YH, SS, MW blood pressure increased WEB: http://www.ncbi.nlm.nih.gov/pubmed/21722707 10005750 10020772 hypertension AE CTCAE: E13785 HPO: HP_0000822 MP: MP_0000231 NCIt: C3117 SIDER: C0020538 OAE:0000404 a cardiac valve disease AE that is characterized by a condition of the heart in which the aortic valve, located between the aorta and left ventricle of the heart, is norrower than normal size SS WEB: http://medical-dictionary.thefreedictionary.com/aortic+valve+stenosis 10002918 aortic valve stenosis AE HPO: HP_0005173 SIDER: C0003507 OAE:0000405 a muscular weakness AE that has an outcome of myasthenia. Myasthenia represenats myasthenia gravis, a neuromuscular disease leading to fluctuating muscle weakness and fatiguability. YH, SS myasthenia gravis myasthenia syndrome AE myasthenic syndrome AE myasthenia AE HPO: HP_0001324 SIDER: C0947912 OAE:0000406 a pain AE that occurs at the chest According to the Vaccine Adverse Event Reporting System (VAERS), 'chest pain' was mentioned in 1,752 VAERS reports (1.4%) during1991-2001 (Reference: PMID: 12825543). YH 10008479 chest pain AE HPO: HP_0001681 SIDER: C0008031 OAE:0000407 a sensory neuropathy AE which has an outcome of sensory axonal characterized by damage to axonas of the peripheral nervous system (PNS) AG, YH sensory axonal AE OAE:0000408 an abnormal vision AE characterised by leakage of fluid under the retina causing visual impairment, usually in one eye. SJ, YH central serous chorioretinopathy WEB: http://en.wikipedia.org/wiki/Central_serous_retinopathy 10063118 central serous retinopathy AE OAE:0000409 a movement disorder AE that has an outcome of twitching, an involuntary sudden movement of part of the body. According to the Vaccine Adverse Event Reporting System (VAERS), 'twitching' is an adverse event that was mentioned in 1,511 VAERS reports (1.2%) during1991-2001 (Reference: PMID: 12825543). YH twitching AE OAE:0000410 a seizure AE that has an outcome of a seizure disorder associated with an elevated temperature YH, BY http://emedicine.medscape.com/article/1176205-overview febrile seizure AE OAE:0000411 a respiratory system AE which has an outcome of asthma YH 哮喘 10003553 Asthma is a common chronic lung disease. It has been defined by the National Heart, Lung and Blood Institute as a common chronic disorder of the airways that is complex and characterized by variable and recurring symptoms, airflow obstruction, bronchial hyperresponsiveness (bronchospasm), and an underlying inflammation. asthma AE HPO: HP_0002099 SIDER: C0004096 OAE:0000412 a pain AE that has an outcome of neck pain According to the Vaccine Adverse Event Reporting System (VAERS), 'neck pain' was mentioned in 1,323 VAERS reports (1.0%) during1991-2001 (Reference: PMID: 12825543). YH, MW 10028836 neck pain AE CTCAE: E12493 HPO: HP_0003418 NCIt: C50663 SIDER: C0007859 OAE:0000413 an arthritis AE that has an outcome of inflammation of a joint, resulting from infectious agents, such as bacteria and viruses DJ, SS, YH WEB: http://www.rightdiagnosis.com/i/infectious_arthritis/intro.htm 10060968 arthritis infective AE HPO: HP_0003095 SIDER: C0003869 OAE:0000414 a pain AE that has an outcome of back pain According to the Vaccine Adverse Event Reporting System (VAERS), 'back pain' was mentioned in 1,277 VAERS reports (1.0%) during1991-2001 (Reference: PMID: 12825543). YH, MW 10003988 back pain AE CTCAE:E12388 HPO: HP_0003418 NCIt:C41830 SIDER: C0004604 OAE:0000415 a hair AE that has an outcome of alopecia and occurs after a medical intervention. VAE, MW 10001760 alopecia means the absence of hair or loss of hair. It is not usually in reference to primary genetic hairlessness but may be due to dietary, stress, secondary to immune condition. alopecia AE CTCAE:E13611 HPO: HP_0001596 MP: MP_0000414 NCIt:C50575 SIDER: C0002170 OAE:0000416 a hemorrhage AE that has an outcome of gastrointestinal hemorrhage gastrointestinal haemorrhage AE WEB: http://medical-dictionary.thefreedictionary.com/gastrointestinal+hemorrhage 10017955 bleeding in the stomach and/or the intestines gastrointestinal hemorrhage AE MP: MP_0000465 OAE:0000417 a movement disorder AE that has an outcome of eyes gaze upward According to the Vaccine Adverse Event Reporting System (VAERS), 'eyes gaze upward' was mentioned in 1,249 VAERS reports (1.0%) during1991-2001 (Reference: PMID: 12825543). YH eyes gaze upward AE OAE:0000418 a nervous system AE that shows a damage to or disease affecting the nerves. Neuropathy is often classified according to the types or location of nerves that are affected. Neuropathy can also be classified according to the disease causing it. (For example, neuropathy from the effects of diabetes is called diabetic neuropathy. Ref: http://www.emedicinehealth.com/neuropathy/article_em.htm#types_of_neuropathy. YH, RR WEB: http://www.emedicinehealth.com/neuropathy/article_em.htm WEB: http://www.emedicinehealth.com/neuropathy/article_em.htm#types_of_neuropathy WEB: http://www.medicalnewstoday.com/articles/147963.php WEB: http://www.neuropathy.org/ 神经病变 neuropathy AE HPO: HP_0007141 SIDER: C0442874 OAE:0000419 a skin adverse event that has an outcome of skin nodule According to the Vaccine Adverse Event Reporting System (VAERS), 'skin nodule' was mentioned in 1,134 VAERS reports (0.9%) during1991-2001 (Reference: PMID: 12825543). YH skin nodule AE HPO: HP_0200036 SIDER: C0037287 OAE:0000420 a movement disorder AE that has an outcome of arthrosis. YH Arthrosis is an articular illness that produces fibrosis or degeneration of the cartilage. arthrosis AE OAE:0000421 a muscle adverse event which has an outcome of hypokinesia, refering to slow or diminished movement of body musculature. YH 10021021 hypokinesia AE HPO: HP_0002375 SIDER: C0086439 OAE:0000422 Muscle twitch AE is a twitching AE that is a small, local, involuntary muscle contraction and relaxation which may be visible under the skin. JX, YH WEB: http://en.wikipedia.org/wiki/Fasciculation fasciculation AE muscle contraction AE myokymia AE 10028346 muscle twitch AE OAE:0000423 skin discoloration AE is a skin adverse event that results in change in color of skin or mucus membranes According to the Vaccine Adverse Event Reporting System (VAERS), 'skin discoloration' is an adverse event that was mentioned in 909 VAERS reports (0.7%) during1991-2001 (Reference: PMID: 12825543). YH, SS skin discolouration AE 10040829 skin discoloration AE OAE:0000424 a varicella zoster virus infection AE that occurs in adults and rarely in children. YH herpes zoster AE zoster AE WEB: http://www.mayoclinic.org/diseases-conditions/shingles/basics/causes/con-20019574 10019974 Herpes zoster is a viral disease characterized by a painful skin rash with blisters in a limited area on one side of the body, often in a stripe. The initial infection with varicella zoster virus (VZV) causes the acute (short-lived) illness chickenpox, and generally occurs in children and young people. Once an episode of chickenpox has resolved, the virus is not eliminated from the body but can go on to cause shingles (an illness with very different symptoms) often many years after the initial infection. shingles AE HPO: HP_0005353 SIDER: C0019360 OAE:0000425 a movement disorder AE that has an outcome of laryngismus According to the Vaccine Adverse Event Reporting System (VAERS), 'laryngismus' is an adverse event that was mentioned in 881 VAERS reports (0.7%) during1991-2001 (Reference: PMID: 12825543). YH laryngospasm sudden laryngeal spasm with crowing inhalation and cyanosis Laryngismus is an uncontrolled/involuntary muscular contraction (spasm) of the laryngeal cords. laryngismus AE OAE:0000426 a behavior and neurological AE that has an outcome of disorder in speech YH 10041466 speech disorder AE HPO: HP_0006977 SIDER: C0037822 OAE:0000427 a cardiovascular disorder AE that has an outcome of hemorrhage bleeding AE haemorrhage AE WEB: http://medical-dictionary.thefreedictionary.com/hemorrhage 10055798 loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels hemorrhage AE MP: MP_0001914 OAE:0000428 a bone disorder AE which has an outcome of neck rigidity YH neck rigidity AE OAE:0000429 a nervous system AE that has the symptom of GBS. Guillain-Barre syndrome (GBS) is a disorder in which the body's immune system attacks part of the peripheral nervous system. The first symptoms of this disorder include varying degrees of weakness or tingling sensations in the legs. In many instances, the weakness and abnormal sensations spread to the arms and upper body. These symptoms can increase in intensity until the muscles cannot be used at all and the patient is almost totally paralyzed. In these cases, the disorder is life-threatening and is considered a medical emergency. Usually Guillain-Barre occurs a few days or weeks after the patient has had symptoms of a respiratory or gastrointestinal viral infection. Occasionally, surgery or vaccinations will trigger the syndrome. Reference: http://www.ninds.nih.gov/disorders/gbs/gbs.htm. YH, SS GBS AE WEB: http://www.ncbi.nlm.nih.gov/pubmed/23299621 10018767 Guillain-Barre syndrome AE HPO: HP_0007131 SIDER: C0018378 OAE:0000430 an abnormal digestion AE which has an outcome of nausea and vomiting According to the Vaccine Adverse Event Reporting System (VAERS), 'nausea and vomiting' is an adverse event that was mentioned in 812 VAERS reports (0.6%) during1991-2001 (Reference: PMID: 12825543). This term will most likely removed since it is just a combination of nausea and vomiting. YH nausea and vomiting AE OAE:0000431 a sudden death AE that occurs to an infant. According to the Vaccine Adverse Event Reporting System (VAERS), 'sudden infant death' is an adverse event that was mentioned in 808 VAERS reports (0.6%) during1991-2001 (Reference: PMID: 12825543). YH sudden infant death AE OAE:0000432 a fever AE that has an outcome of fever with chills, which is successive stages of chills and fever. This is a symptom of malaria. YH chills and fever AE 10016559 fever with chills AE OAE:0000433 a psychiatric disorder AE that is characterized by enduring maladaptive patterns of behavior, cognition, and inner experience, exhibited across many contexts and deviating markedly from those accepted by the individual's culture. YH, MW WEB: https://en.wikipedia.org/wiki/Personality_disorder 10034721 personality disorder AE HPO: HP_0000751 SIDER: C0031212 OAE:0000434 a respiratory system AE which has an outcome of lung disorder YH lung disorder AE 10025082 lung AE HPO: HP_0006552 SIDER: C0024115 OAE:0000435 a musculoskeletal system AE that occurs in muscle. YH muscle AE OAE:0000436 an adverse event that occurs in liver, biliary, and pancreatic areas. YH, JX liver, biliary, and pancreatic disorder AE URL: http://www.ijhpd.com/ WEB: http://www.uchospitals.edu/online-library/content=P00670 hepatobiliary or pancreatic AE OAE:0000437 a liver/biliary system AE which has an outcome of an enlarged liver, or larger than average size of the liver According to the Vaccine Adverse Event Reporting System (VAERS), 'hepatomegaly' was mentioned in 106 VAERS reports (<0.1%) during1991-2001 (Reference: PMID: 12825543). enlarged liver AE MP: MP_0000599 OAE:0000438 a brain inflammation AE which results in an inflammation of the protective membranes covering the brain and spinal cord, known collectively as the meninges. The inflammation is caused by infection with viruses, bacteria, or other microorganisms, and less commonly by certain drugs or diseases. YH, JX WEB: http://www.cdc.gov/meningitis/index.html 脑膜炎 10027199 meningitis AE CTCAE: E11458 HPO: HP_0001287 NCIt: C26828 SIDER: C0025289 OAE:0000439 an AE that occurs in digestive system. YH digestive system AE OAE:0000440 a paralysis AE that has an outcome of paralysis in face According to the Vaccine Adverse Event Reporting System (VAERS), 'facial paralysis' was mentioned in 580 VAERS reports (0.5%) during1991-2001 (Reference: PMID: 12825543). YH facial paralysis AE HPO: HP_0007209 SIDER: C0015469 OAE:0000441 a psychiatric disorder AE that has an outcome of confusion, which is a mild form of delirium. YH, KM confused state AE mental confusion AE WEB: http://medical-dictionary.thefreedictionary.com/mental+confusion 10010300 10010305 confusion AE CTCAE: E12889 NCIt: C37928 OAE:0000442 a musculoskeletal system AE which has an outcome of joint disorder YH joint disorder AE OAE:0000443 an AE that occurs in eye. YH eye disorder AE 10015916 eye AE HPO: HP_0000496 SIDER: C0015397 OAE:0000444 a behavior and neurological AE that has an outcome of autism YH Autism is a brain development disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. autism AE OAE:0000445 a hematopoietic system AE which has an outcome of sedimentation rate increased According to the Vaccine Adverse Event Reporting System (VAERS), 'sedimentation rate increased' is an adverse event that was mentioned in 530 VAERS reports (0.4%) during1991-2001 (Reference: PMID: 12825543). This term should be inferred to lab test abnormal. YH ESR erythrocyte sedimentation rate red blood cell sedimentation rate increased AE sedrate Sedimentation rate is a diagnostic test for inflammation. The test measures the rate at which red blood cells fall to the bottom of a tube over time. An increased sedimentation rate corresponds to increased non-specific inflammation in the body. It is often called "sedrate" for short. red blood cell sedimentation rate increased AE is an AE: sedimentation rate increased that has an increase in rate at which red blood cells precipitate in a period of 1 hour. sedimentation rate increased AE OAE:0000446 an arthritis AE that has an outcome of arthritis due to an infection in another part of the body DJ, SS, YH, DA reactive arthritis AE reiter's syndrome AE WEB: http://www.ncbi.nlm.nih.gov/pubmed/16822921 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2563769/ https://www.ncbi.nlm.nih.gov/pubmed/18436339 10003267 10038294 arthritis reactive AE OAE:0000447 an abnormal vision AE which has an outcome of amblyopia YH 10001906 amblyopia AE HPO: HP_0000646 SIDER: C0002418 OAE:0000448 a psychiatric disorder AE that has an outcome of mental retardation YH mental retardation AE HPO: HP_0001249 SIDER: C0025362 OAE:0000449 a rash AE which shows red, target-shaped or "bulls-eye" patches or sores on the skin. YH, MW WEB: http://kidshealth.org/parent/infections/skin/erythema_multiforme.html WEB: https://en.wikipedia.org/wiki/Erythema_multiforme 10015218 The erythema multiforme rash usually begins on the arms, hands, legs, and feet, but you might also find it on the face, neck, and body. It also can affect the lips and inside the mouth. It usuallys follows an infection or drug exposure. erythema multiforme AE CTCAE:E13627 HPO: HP_0010783 NCIt:C3024 SIDER: C0014742 OAE:0000450 a lab test abnormal AE that has an outcome of SGOT increased According to the Vaccine Adverse Event Reporting System (VAERS), 'SGOT increased' is an adverse event that was mentioned in 477 VAERS reports (0.4%) during1991-2001 (Reference: PMID: 12825543). YH SGOT respresents serum glutamic oxaloacetic transaminase, an enzyme that is normally present in liver and heart cells. SGOT is released into blood when the liver or heart is damaged. The blood SGOT levels are thus elevated with liver damage (for example, from viral hepatitis) or with an insult to the heart (for example, from a heart attack). Some medications can also raise SGOT levels. SGOT is also called aspartate aminotransferase (AST). SGOT increased AE OAE:0000451 a lab test abnormal AE that has an outcome of SGPT increased According to the Vaccine Adverse Event Reporting System (VAERS), 'SGPT increased' is an adverse event that was mentioned in 459 VAERS reports (0.4%) during1991-2001 (Reference: PMID: 12825543). YH SGPT represents serum glutamic pyruvic transaminase, an enzyme that is normally present in liver and heart cells. SGPT is released into blood when the liver or heart are damaged. The blood SGPT levels are thus elevated with liver damage (for example, from viral hepatitis) or with an insult to the heart (for example, from a heart attack). Some medications can also raise SGPT levels. SGPT is also called alanine aminotransferase (ALT). SGPT increased AE OAE:0000452 a behavioral and neurological AE that has an outcome of thinking abnormality According to the Vaccine Adverse Event Reporting System (VAERS), 'thinking abnormality' is an adverse event that was mentioned in 457 VAERS reports (0.4%) during1991-2001 (Reference: PMID: 12825543). YH, JX 10043431 thinking abnormality AE OAE:0000453 an abnormal digestion AE which has an outcome of dyspepsia According to the Vaccine Adverse Event Reporting System (VAERS), 'dyspepsia' is an adverse event that was mentioned in 454 VAERS reports (0.4%) during1991-2001 (Reference: PMID: 12825543). YH 10013946 Dyspepsia is popularly known as indigestion, meaning hard or difficult digestion. It is a medical condition characterized by chronic or recurrent pain in the upper abdomen, upper abdominal fullness and feeling full earlier than expected when eating. dyspepsia AE CTCAE: E10617 HPO: HP_0002577 NCIt: C26756 SIDER: C0013395 OAE:0000454 an allergy AE which has an outcome of anaphylactoid reaction AE is an acute systemic (multi-system) and very severe Type I Hypersensitivity allergic reaction in humans and other mammals. Minute amounts of allergens may cause a life-threatening anaphylactic reaction. According to the Vaccine Adverse Event Reporting System (VAERS), 'anaphylactoid reaction' was mentioned in 452 VAERS reports (0.4%) during1991-2001 (Reference: PMID: 12825543). YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/22293078 10002198 10002216 anaphylactoid reaction AE HPO: HP_0100845 SIDER: C0340865 OAE:0000455 a digestive system AE which has an outcome of a gastrointestinal disorder According to the Vaccine Adverse Event Reporting System (VAERS), 'gastrointestinal disorder' is an adverse event that was mentioned in 449 VAERS reports (0.3%) during1991-2001 (Reference: PMID: 12825543). YH gastrointestinal disorder AE HPO: HP_0011024 SIDER: C0017178 OAE:0000456 an edema AE that has an outcome of accumulation of fluid in the peritoneal cavity DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/23296107 10003445 ascites AE CTCAE: E10502 HPO: HP_0001541 NCIt: C2885 SIDER: C0003962 OAE:0000457 a hypersensitivity AE which has an outcome of serum sickness According to the Vaccine Adverse Event Reporting System (VAERS), 'serum sickness' is an adverse event that was mentioned in 428 VAERS reports (0.3%) during1991-2001 (Reference: PMID: 12825543). YH, MW 10040400 Serum sickness is a reaction to proteins in antiserum derived from an animal source. It is a type of hypersensitivity, specifically immune complex hypersensitivity (type III). serum sickness AE CTCAE: E11276 NCIt: C79718 OAE:0000458 an abscess AE which has an outcome of injection-site abscess YH injection-site abscess AE OAE:0000459 a neurological, special senses and psychiatric investigation result abnormal AE that is the abnormal result of a procedure that uses small, flat metal discs (electrodes) attached to your scalp to detect electrical activity in your brain According to the Vaccine Adverse Event Reporting System (VAERS), 'abnormal electroencephalogram' is an adverse event that was mentioned in 420 VAERS reports (0.3%) during1991-2001 (Reference: PMID: 12825543). YH, EB WEB: http://www.mayoclinic.com/health/eeg/MY00296 10000130 abnormal electroencephalogram result AE OAE:0000460 a dizziness AE that has an outcome of vertigo According to the Vaccine Adverse Event Reporting System (VAERS), 'vertigo' was mentioned in 412 VAERS reports (0.3%) during1991-2001 (Reference: PMID: 12825543). YH 10047340 Vertigo is a specific type of dizziness, a major symptom of a balance disorder. It is the sensation of spinning or swaying while the body is actually stationary with respect to the surroundings. The effects of vertigo may be slight. It can cause nausea and vomiting and, in severe cases, it may give rise to difficulties with standing and walking. vertigo AE CTCAE: E10291 HPO: HP_0002321 NCIt: C38057 SIDER: C0042571 OAE:0000461 a cardiac disorder AE that has an outcome of heartarrest, the abrupt cessation of normal circulation of the blood due to failure of the heart to contract effectively during systole. YH cardiopulmonary arrest circulatory arrest heart arrest AE WEB: http://en.wikipedia.org/wiki/Myocardial_infarction WEB: http://medical-dictionary.thefreedictionary.com/cardiac+arrest 10007515 10007617 10028596 cardiac arrest CTCAE: E10101 NCIT: C50479 OAE:0000462 a respiratory system inflammation AE which has an outcome of bronchitis YH Bronchitis is an inflammation of the air passages within the lungs. It occurs when the trachea (windpipe) and the large and small bronchi (airways) within the lungs become inflamed because of infection or other causes. bronchitis AE HPO: HP_0002837 SIDER: C0006277 OAE:0000463 a seizure AE that has an outcome of grand malconvulsion YH A generalized seizure disorder characterized by recurrent major motor seizures. The initial brief tonic phase is marked by trunk flexion followed by diffuse extension of the trunk and extremities. The clonic phase features rhythmic flexor contractions of the trunk and limbs, pupillary dilation, elevations of blood pressure and pulse, urinary incontinence, and tongue biting. This is followed by a profound state of depressed consciousness (post-ictal state) which gradually improves over minutes to hours. The disorder may be cryptogenic, familial, or symptomatic (caused by an identified disease process). grand malconvulsion AE OAE:0000464 a liver related investigation result abnormal AE which shows an abnormal test result in a liver function test, indicating aberrant function of liver. According to the Vaccine Adverse Event Reporting System (VAERS), 'liver function tests abnormal' was mentioned in 717 VAERS reports (0.6%) during1991-2001 (Reference: PMID: 12825543). WEB: http://medical-dictionary.thefreedictionary.com/hepatic+function 10019670 10024690 liver function test abnormal AE MP: MP_0000609 OAE:0000465 an AE that occurs in ear. YH ear disorder AE ear AE HPO: HP_0000598 SIDER: C0013447 OAE:0000466 an infection AE that results in detrimental colonization of a host organism by virus YH, SS viral infection WEB: http://en.wikipedia.org/wiki/Viral_infection viral infection AE HPO: HP_0005364 SIDER: C0042769 OAE:0000467 a movement disorder AE that has an outcome of lacrimation disorder According to the Vaccine Adverse Event Reporting System (VAERS), 'lacrimation disorder' was mentioned in 334 VAERS reports (0.3%) during1991-2001 (Reference: PMID: 12825543). YH Lacrimation is the production, secretion, and shedding of tears. lacrimation disorder AE OAE:0000468 a liver/biliary system AE which has an outcome of jaundice, which is the clinical manifestation of hyperbilirubinemia, with deposition of bile pigments in the skin, resulting in yellowish staining of the skin and mucous membranes According to the Vaccine Adverse Event Reporting System (VAERS), 'jaundice' is an adverse event that was mentioned in 317 VAERS reports (0.2%) during1991-2001 (Reference: PMID: 12825543). SS, YH icterus AE WEB: http://en.wikipedia.org/wiki/Jaundice 10023126 jaundice AE HPO: HP_0000952 MP: MP_0000611 SIDER: C0022346 OAE:0000469 an immune system disorder AE which shows an enclosed collection of liquefied tissue, known as pus, somewhere in the body. Abscess is the result of the body's defensive reaction to foreign material. YH abscessus WEB: http://medical-dictionary.thefreedictionary.com/abscess 10000269 An abscess is a collection of pus (dead neutrophils) that has accumulated in a cavity formed by the tissue on the basis of an infectious process (usually caused by bacteria or parasites) or other foreign materials (e.g. splinters, bullet wounds, or injecting needles). It is a defensive reaction of the tissue to prevent the spread of infectious materials to other parts of the body. abscess AE HPO: HP_0002722 SIDER: C0000833 OAE:0000470 a pain AE that has an outcome of eye pain According to the Vaccine Adverse Event Reporting System (VAERS), 'eye pain' is an adverse event that was mentioned in 316 VAERS reports (0.2%) during1991-2001 (Reference: PMID: 12825543). YH 10015958 eye pain AE CTCAE: E10376 HPO: HP_0200025 NCIt: C78287 SIDER: C0151827 OAE:0000471 a sensory capability AE that has an outcome of palpitation YH WEB: http://en.wikipedia.org/wiki/Palpitations 10033557 A palpitation is an abnormal awareness of the beating of the heart, whether it is too slow, too fast, irregular, or at its normal frequency. palpitation AE OAE:0000472 an edema AE which has an outcome of tongue edema YH, RR tongue oedema AE tongue swelling AE WEB: http://www.medterms.com/script/main/art.asp?articlekey=97582 10042727 tongue edema AE OAE:0000473 a pain AE that has an outcome of ear pain According to the Vaccine Adverse Event Reporting System (VAERS), 'ear pain' was mentioned in 302 VAERS reports (0.2%) during1991-2001 (Reference: PMID: 12825543). YH 10014020 ear pain AE CTCAE: E10262 HPO: HP_0010833 NCIt: C37944 SIDER: C0013456 OAE:0000474 an edema AE which has an outcome of angioedema YH, SJ angioneurotic edema WEB: http://www.mayoclinic.org/diseases-conditions/hives-and-angioedema/basics/definition/con-20014815 10002473 Angioedema is the rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues often around the eyes and lips. It is very similar to urticaria, but urticaria, commonly known as hives, occurs in the upper dermis. angioedema AE OAE:0000475 An arthritis AE that has the outcome of rheumatoid arthritis. Rheumatoid arthritis is an autoimmune disease that causes chronic inflammation of the joints and may also cause inflammation of the tissue around the joints, as well as other organs in the body. YH rheumatoid arthritis AE HPO: HP_0005681 SIDER: C0003873 OAE:0000476 an AE that occurs in immune system. According to the Vaccine Adverse Event Reporting System (VAERS), 'immune system disorder' was mentioned in 292 VAERS reports (0.2%) during1991-2001 (Reference: PMID: 12825543). YH immune system disorder AE immune system AE HPO: HP_0002715 SIDER: C0021053 OAE:0000477 an immune system disorder AE which has an outcome of antinuclear antibody present According to the Vaccine Adverse Event Reporting System (VAERS), 'antinuclear antibody present'; is an adverse event that was mentioned in 288 VAERS reports (0.2%) during1991-2001 (Reference: PMID: 12825543). YH anti-nuclear factor present The presence of anti-nuclear antibodies (ANAs) that are antibodies directed against contents of the cell nucleus. ANAs are present in higher than normal numbers in autoimmune disease. The ANA test measures the pattern and amount of autoantibody which can attack the body's tissues as if they were foreign material. Autoantibodies are present in low titers in the general population, but in about 5% of the population, their concentration is increased, and about half of this 5% have an autoimmune disease. antinuclear antibody present AE OAE:0000478 a nervous system AE which involves inflammation of the spinal cord, which disrupts central nervous system functions linking the brain and limbs. YH, MW 10028524 myelitis AE CTCAE: E12732 NCIt: C26832 OAE:0000479 a headache AE that has an outcome of migraine According to the Vaccine Adverse Event Reporting System (VAERS), 'migraine'; is an adverse event that was mentioned in 267 VAERS reports (0.2%) during1991-2001 (Reference: PMID: 12825543). YH migraine headache A migraine is a very painful type of headache. People who get migraines often describe the pain as pulsing or throbbing in one area of the head. During migraines, people are very sensitive to light and sound. They may also become nauseated and vomit. migraine AE HPO: HP_0002076 SIDER: C0149931 OAE:0000480 Thrombocytopenic purpura AE are purpura AE associated with a reduction in circulating blood platelets which can result from a variety of causes. According to the Vaccine Adverse Event Reporting System (VAERS), 'thrombocytopenic purpura'; is an adverse event that was mentioned in 267 VAERS reports (0.2%) during1991-2001 (Reference: PMID: 12825543). YH 10043561 thrombocytopenic purpura AE HPO: HP_0004829 SIDER: C0857305 OAE:0000481 multiple sclerosis AE is an immune system disorder AE, or an autoimmune condition in which the immune system attacks the central nervous system, leading to demyelination. YH MS disseminated sclerosis encephalomyelitis disseminata 10028245 multiple sclerosis AE OAE:0000482 a behavior and neurological AE that has an outcome of amnesia in a patient YH, MW 10001949 Amnesia is a short term memory condition in which memory is disturbed. In simple terms it is the loss of memory. amnesia AE CTCAE:E12585 HPO: HP_0002354 NCIt:C2867 SIDER: C0002622 OAE:0000483 a movement disorder AE that has an outcome of incoordination According to the Vaccine Adverse Event Reporting System (VAERS), 'incoordination' was mentioned in 261 VAERS reports (0.2%) during1991-2001 (Reference: PMID: 12825543). YH a lack of normal adjustment of muscular action so that the intended movement of the limb or other part is not made smoothly and harmoniously, and does not accurately achieve its objective. If the abnormality is hypermetric, the condition is referred to as ataxia. If it is inclined to weakness, e.g. knuckling at the turn, stumbling, failure to flex limbs properly, or to misdirection as in a proprioceptive deficit, it is called incoordination. incoordination AE OAE:0000484 a speech disorder that has an outcome of voice alteration YH, MW 10047681 voice alteration AE CTCAE: E13601 NCIt: C61043 OAE:0000485 a pregnancy AE that is the termination of a pregnancyby the removal or expulsion from the uterus of a fetus or embryo, resulting in or caused by its death. According to the Vaccine Adverse Event Reporting System (VAERS), 'abortion'; is an adverse event that was mentioned in 257 VAERS reports (0.2%) during1991-2001 (Reference: PMID: 12825543). YH, SS WEB: http://en.wikipedia.org/wiki/Abortion 10000210 abortion AE OAE:0000486 a psychiatric disorder AE that has an outcome of shock YH acute stress disorder AE acute stress reaction AE mental shock AE 10001084 Mental shock (or shock) is a psychological condition arising in response to a terrifying event. It should not be confused with the unrelated circulatory condition of shock. There are two types of shocks. Another is circulatory shock which is physiological with MedDRA ID of 10040560. psychological shock AE OAE:0000487 a skin discoloration AE which has an outcome of purpura According to the Vaccine Adverse Event Reporting System (VAERS), 'purpura'; is an adverse event that was mentioned in 251 VAERS reports (0.2%) during1991-2001 (Reference: PMID: 12825543). YH, MW 紫癜 10037549 Purpura is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This is common with typhus and can be present with meningitis caused by meningococcal meningitis or septicaemia. Reference: http://en.wikipedia.org/wiki/Purpura. purpura AE CTCAE:E13690 HPO: HP_0000979 NCIt:C78787 SIDER: C0034150 OAE:0000488 an infection AE that results in detrimental colonization of a host organism by bacteria YH, SS bacterial infection AE WEB: http://en.wikipedia.org/wiki/Bacterial_infection 10060945 bacterial infection AE HPO: HP_0002718 SIDER: C0004623 OAE:0000489 a skin adverse event that has an outcome of skin striae that displays irregular areas of skin that look like bands, stripes, or lines. Striae are seen when a person grows or gains weight rapidly or has certain diseases or conditions. According to the Vaccine Adverse Event Reporting System (VAERS), 'skin striae'; is an adverse event that was mentioned in 247 VAERS reports (0.2%) during1991-2001 (Reference: PMID: 12825543). YH stretch marks striae distensae skin striae AE HPO: HP_0001065 SIDER: C0152459 OAE:0000490 a syndrome AE that has an outcome of an acute brain syndrome AE and occurs after a medical intervention. YH acute brain syndrome AE OAE:0000491 a sensory capability AE that has an outcome of coma YH 10010071 Coma is a profound state of unconsciousness. A comatose person cannot be awakened, fails to respond normally to pain or light, does not have sleep-wake cycles, and does not take voluntary actions. coma AE HPO: HP_0001259 SIDER: C0009421 OAE:0000492 a muscle adverse event which has an outcome of hyperkinesia, an abnormal increase in muscular activity. YH 10020651 hyperkinesia AE HPO: HP_0002487 SIDER: C0424295 OAE:0000493 an AE that occurs in cardiovascular system. YH cardiovascular disorder AE 10007649 cardiovascular AE HPO: HP_0001626 SIDER: C0007222 OAE:0000494 a nervous system AE which has an outcome of encephalopathy, which is disorder or disease of the brain. YH, MW 10014625 encephalopathy AE CTCAE:E12652 HPO: HP_0007239 NCIt:C26920 SIDER: C0085584 OAE:0000495 a urinary system AE that has an outcome of urine abnormality AE YH urine abnormality AE HPO: HP_0011036 SIDER: C0235639 OAE:0000496 a gastrointestinal disorder AE which has an outcome of gastroenteritis, an inflammation occuring in the gastrointestinal tract that involves both the stomach and the small intestine, often results in diarrhea, vomiting and abdominal pain and cramping According to the Vaccine Adverse Event Reporting System (VAERS), 'gastroenteritis' was mentioned in 218 VAERS reports (0.2%) during1991-2001 (Reference: PMID: 12825543). YH WEB: http://medical-dictionary.thefreedictionary.com/gastroenteritis 10017888 gastroenteritis AE HPO: HP_0004386 SIDER: C0017160 OAE:0000497 a cardiovascular disorder AE that has an outcome of peripheral vascular disorder YH peripheral vascular disorder AE HPO: HP_0005299 SIDER: C0085096 OAE:0000498 a urinary tract disoder AE that has an outcome of urnary tract infection AE YH 10046571 urinary tract infection AE CTCAE: E11614 HPO: HP_0000094 NCIt: C50791 SIDER: C0042029 OAE:0000499 an abnormal salivary gland physiology AE which has an outcome of increased salivation, meaning greater than normal amounts of flowing saliva According to the Vaccine Adverse Event Reporting System (VAERS), 'increased salivation' is an adverse event that was mentioned in 336 VAERS reports (0.3%) during1991-2001 (Reference: PMID: 12825543). increased salivation AE MP: MP_0000622 OAE:0000500 a psychiatric disorder AE that has an outcome of depression. Depression causes a persistent feeling of sadness and loss of interest. YH, MW WEB: http://www.mayoclinic.org/diseases-conditions/depression/basics/definition/con-20032977 10012378 depression AE CTCAE:E12909 HPO: HP_0000716 NCIt:C2982 SIDER: C0011570 OAE:0000501 a glucose homeostasis AE which has an outcome of diabetes mellitus YH diabetes AE 10012601 Diabetes mellitus, often referred to simply as diabetes, is a syndrome of disordered metabolism, usually due to a combination of hereditary and environmental causes, resulting in abnormally high blood sugar levels (hyperglycemia). diabetes mellitus AE HPO: HP_0000819 SIDER: C0011849 OAE:0000502 a respiratory system inflammation AE which has an outcome of laryngitis According to the Vaccine Adverse Event Reporting System (VAERS), 'laryngitis'; is an adverse event that was mentioned in 190 VAERS reports (0.1%) during1991-2001 (Reference: PMID: 12825543). YH 10023874 Laryngitis is an inflammation of the larynx. It causes hoarse voice or the complete loss of the voice because of irritation to the vocal folds (vocal cords). laryngitis AE CTCAE: E11435 HPO: HP_0001600 NCIt: C26811 SIDER: C0023067 OAE:0000503 a muscle spasm AE which has an outcome of generalized spasm, which is an involuntary contraction of a muscle or group of muscles. Spasms may involve skeletal muscle (MUSCLE, SKELETAL) or smooth muscle (MUSCLE, SMOOTH). YH generalized spasm AE OAE:0000505 a digestive system AE which has an outcome of dry mouth, which is dryness of the mouth resulting from reduced salivary secretion According to the Vaccine Adverse Event Reporting System (VAERS), 'dry mouth'; is an adverse event that was mentioned in 171 VAERS reports (0.1%) during1991-2001 (Reference: PMID: 12825543). YH xerostomia 10013781 dry mouth AE CTCAE: E10578 HPO: HP_0000217 NCIt: C26917 SIDER: C0043352 OAE:0000506 a neuritis AE which has an outcome of optic neuritis YH 10030942 optic neuritis AE HPO: HP_0100653 SIDER: C0029134 OAE:0000508 a hemorrhage AE that has an outcome of epistaxis YH, MW nosebleed 10015090 Epistaxis is the relatively common occurrence of hemorrhage from the nose, usually noticed when the blood drains out through the nostrils. epistaxis AE CTCAE:E13374 HPO: HP_0000421 NCIt:C26766 SIDER: C0014591 OAE:0000509 a syndrome AE that displays a lupus syndrome. Lupus is an autoimmune disease where the body's immune system becomes hyperactive and attacks normal, healthy tissue. This results in symptoms such as inflammation, swelling, and damage to joints, skin, kidneys, blood, the heart, and lungs. YH, JX lupus syndrome AE 狼疮样综合征 WEB: http://www.medicalnewstoday.com/info/lupus/ lupus AE OAE:0000510 an eye disorder AE which has an outcome of photophobia YH 10034960 Photophobia is a symptom of excessive sensitivity to light and the aversion to sunlight or well-lit places. In medical terms it is not fear, but an experience of discomfort or pain to the eyes due to light exposure. photophobia AE CTCAE: E10416 HPO: HP_0000613 NCIt: C28210 SIDER: C0085636 OAE:0000511 a digestive system AE which has an outcome of abnormal salivary gland physiology, which is any functional anomaly of any of the glands in the mouth that secrete saliva abnormal salivary gland physiology AE MP: MP_0005310 OAE:0000512 a psychiatric disorder AE that has an outcome of hallucination YH, MW hallucinations AE 10019063 10019077 A hallucination, in the broadest sense, is a perception in the absence of a stimulus. In a stricter sense, hallucinations are defined as perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they are vivid, substantial, and located in external objective space. hallucination AE CTCAE: E12919 HPO: HP_0000738 NCIt: C37961 SIDER: C0018524 OAE:0000513 a digestive system AE which has an outcome of tongue disorder According to the Vaccine Adverse Event Reporting System (VAERS), 'tongue disorder'; is an adverse event that was mentioned in 156 VAERS reports (0.1%) during1991-2001 (Reference: PMID: 12825543). YH tongue disorder HPO: HP_0000157 SIDER: C0040409 OAE:0000514 a pain AE that has an outcome of neuralgia According to the Vaccine Adverse Event Reporting System (VAERS), 'neuralgia'; is an adverse event that was mentioned in 155 VAERS reports (0.1%) during1991-2001 (Reference: PMID: 12825543). YH, MW 10029223 Neuralgia or neuropathic pain can be defined most simply as non-nociceptive pain. Neuralgia is pain produced by a change in neurological structure or function. Unlike nociceptive pain, Neuralgia exists with no continuous nociceptive input. Neuralgia falls into two categories: central Neuralgia and peripheral Neuralgia. neuralgia AE CTCAE:E12744 HPO: HP_0003489 NCIt:C79695 SIDER: C0027796 OAE:0000515 an edema AE which has an outcome of lung edema YH lung edema AE OAE:0000516 a paresthesia AE that occurs around the mouth. YH circumoral paresthesia AE HPO: HP_0003401 SIDER: C0151838 OAE:0000517 an abnormal fluid regulation AE which has an outcome of thirst YH 10043458 Thirst is the craving for liquids, resulting in the basic instinct of humans or animals to drink. It is an essential mechanism involved in fluid balance. thirst AE HPO: HP_0001959 SIDER: C0039971 OAE:0000518 a musculoskeletal system AE that occurs in the bone YH bone disorder 10005956 bone AE HPO: HP_0000924 SIDER: C0005940 OAE:0000519 a perinatal AE that displays fetal disorder. YH fetal disorder AE OAE:0000520 a sensory capability AE that has an outcome of emotional liability YH emotional liability AE OAE:0000521 a muscle adverse event which has an outcome of muscle spasm, which is an involuntary and often painful muscle contraction or cramps having a number of causes ranging from nutritional deficiency to serious nervous system conditions SS, YH WEB: http://en.wikipedia.org/wiki/Spasm 10028334 muscle spasm AE MP: MP_0000743 OAE:0000522 a connective tissue disorder AE that occurs at the location of tendon A tendon (or sinew) is a tough band of fibrous connective tissue that usually connects muscle to bone and is capable of withstanding tension. According to the Vaccine Adverse Event Reporting System (VAERS), 'tendon disorder'; is an adverse event that was mentioned in 137 VAERS reports (0.1%) during1991-2001 (Reference: PMID: 12825543). YH Tendon disorder is a medical condition that results in a tendon not functioning normally. tendon disorder AE OAE:0000523 a behavior and neurological AE that has an outcome of hostility YH 10020400 hostility AE OAE:0000524 an eye disorder AE which has an outcome of visual field defect SS, YH visual impairment AE WEB: http://en.wikipedia.org/wiki/Visual_impairment 10047555 10047571 visual field defect AE OAE:0000525 a muscle adverse event which has an outcome of myopathy AE, an abnormal condition or disease of the skeletal muscle 10028641 myopathy AE HPO: HP_0003198 MP: MP_0000751 SIDER: C0026848 OAE:0000526 a behavior and neurological AE that has an outcome of apathy state YH impassivity perfunctoriness 10002942 Apathy is a state of indifference, or the suppression of emotions such as concern, excitement, motivation and passion. An apathetic individual has an absence of interest or concern to emotional, social, or physical life. They may also exhibit an insensibility or sluggishness. apathy AE HPO: HP_0000741 SIDER: C0085632 OAE:0000527 a paralysis AE that has an outcome of hemiplegia According to the Vaccine Adverse Event Reporting System (VAERS), 'hemiplegia'; is an adverse event that was mentioned in 129 VAERS reports (0.1%) during1991-2001 (Reference: PMID: 12825543). YH 10019468 Hemiplegia is total paralysis of the arm, leg, and trunk on the same side of the body. Hemiplegia is more severe than hemiparesis, wherein one half of the body is weakened but not paralysed. hemiplegia AE HPO: HP_0002301 SIDER: C0018991 OAE:0000528 a rash AE that is characterized by a circumscribed and elevated skin lesion filled with pus. According to the Vaccine Adverse Event Reporting System (VAERS), 'pustular rash'; is an adverse event that was mentioned in 128 VAERS reports (<0.1%) during1991-2001 (Reference: PMID: 12825543). YH rash pustular AE 10037888 pustular rash AE CTCAE: E11545 NCIt: C80119 OAE:0000529 a blood creatine phosphokinase level abnormal AE that is characterized by an increased level of creatine phosphokinase (CPK) or phosphocreatine kinase, an enzyme expressed by various tissue types that catalyses the conversion of creatine and consumes adenosine triphosphate (ATP) to create phosphocreatine and adenosine diphosphate (ADP) YH, EB elevated serum creatine phosphate kinase AE 10005470 blood creatine phosphokinase level increased AE OAE:0000530 a hypertension AE that has an outcome of elevated pressure in the skull. YH, SS WEB: http://www.ihrfoundation.org/intracranial/hypertension/info/C16 10049977 intracranial hypertension AE OAE:0000531 a sensory neuropathy AE which shows a painful neuropathy characterized by damage to sensory and motor nerves AG, YH sensorimotor painful neuropathy AE OAE:0000532 a digestive system AE which has an outcome of abnormal stool According to the Vaccine Adverse Event Reporting System (VAERS), 'abnormal stools' was mentioned in 111 VAERS reports (<0.1%) during1991-2001 (Reference: PMID: 12825543). YH abnormal stool AE OAE:0000533 a pain AE that has an outcome of bone pain According to the Vaccine Adverse Event Reporting System (VAERS), 'bone pain' was mentioned in 109 VAERS reports (<0.1%) during1991-2001 (Reference: PMID: 12825543). YH, MW 10006002 bone pain AE CTCAE:E12392 HPO: HP_0002653 NCIt:C38644 SIDER: C0151825 OAE:0000534 a cardiovascular disorder AE that comes with cerebrovascular accident YH stroke 10008190 Cerebrovascular accident: The sudden death of some brain cells due to lack of oxygen when the blood flow to the brain is impaired by blockage or rupture of an artery to the brain. A CVA is also referred to as a stroke. cerebrovascular accident AE HPO: HP_0001297 SIDER: C0038454 OAE:0000535 a digestive system AE which has an outcome of parotid gland enlargement According to the Vaccine Adverse Event Reporting System (VAERS), 'parotid gland enlargement' was mentioned in 103 VAERS reports (<0.1%) during1991-2001 (Reference: PMID: 12825543). YH 10034023 parotid gland enlargement AE OAE:0000536 a movement disorder AE that has an outcome of flatulence According to the Vaccine Adverse Event Reporting System (VAERS), 'flatulence' was mentioned in 102 VAERS reports (<0.1%) during1991-2001 (Reference: PMID: 12825543). YH 10016766 Flatulence is the production of a mixture of gases in the digestive tract of mammals or other animals that are byproducts of the digestion process. Such a mixture of gases is known as flatus, and is expelled from the rectum in a process colloquially referred to as "passing gas" or "farting". flatulence AE CTCAE: E10697 HPO: HP_0011024 NCIt: C37954 SIDER: C0016204 OAE:0000537 a liver/biliary system AE which has an outcome of liver damage According to the Vaccine Adverse Event Reporting System (VAERS), 'liver damage' was mentioned in 102 VAERS reports (<0.1%) during1991-2001 (Reference: PMID: 12825543). YH liver damage AE OAE:0000538 a respiratory system AE which has an outcome of sore throat YH, MW 10041367 sore throat AE CTCAE: E13575 NCIt: C50747 OAE:0000539 a movement disorder AE that results in the loss of power of voluntary movement in a muscle through injury or disease of its nerve supply According to the Vaccine Adverse Event Reporting System (VAERS), 'paralysis' is an adverse event that was mentioned in 574 VAERS reports (0.4%) during1991-2001 (Reference: PMID: 12825543). SS, YH WEB: https://www.nlm.nih.gov/medlineplus/paralysis.html 瘫痪 10033799 paralysis AE HPO: HP_0010549 MP: MP_0000753 SIDER: C0522224 OAE:0000540 a bone disorder AE that has an outcome of cellular death of bone components due to interupption of blood supply DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/avascular+necrosis 10003460 aseptic necrosis bone AE OAE:0000541 a physical examination result abnormal AE that has an outcome of weight loss, which is the progressive reduction of body weight below normal average for age MW, YH weight decreased AE 10047895 10047900 weight loss AE CTCAE: E12228 MP: MP_0001263 NCIt: C3445 OAE:0000542 According to the Vaccine Adverse Event Reporting System (VAERS), 'ataxia' is an adverse event that was mentioned in 555 VAERS reports (0.4%) during1991-2001 (Reference: PMID: 12825543). YH, MW 10003591 a movement disorder AE that has an outcome of ataxia, inability to coordinate voluntary muscular movements ataxia AE CTCAE:E12597 HPO: HP_0001251 MP: MP_0001393 NCIt:C26702 SIDER: C0004134 OAE:0000543 a hair, skin, and nail AE that occurs in skin. YH WEB: http://www.thefreedictionary.com/skin+disorder 10040831 skin AE OAE:0000544 a movement disorder AE that has an outcome of unusual or distinctive way of walking According to the Vaccine Adverse Event Reporting System (VAERS), 'abnormal gait' is an adverse event that was mentioned in 998 VAERS reports (0.8%) during1991-2001 (Reference: PMID: 12825543). SS, YH gait disturbance AE WEB: http://www.ncbi.nlm.nih.gov/pubmed/21224774 10017577 abnormal gait AE CTCAE: E11112 MP: MP_0001406 NCIt: C78303 OAE:0000545 an abnormal fluid regulation AE which has an outcome of dehydration, which is an excessive water loss from the body or from an organ or bodily part YH, SS, MW hypohydration 10012174 dehydration AE CTCAE:E12258 HPO: HP_0001944 MP: MP_0001429 NCIt:C26740 SIDER: C0011175 OAE:0000546 a homeostasis AE which has an outcome of abnormal fluid regulation, which is any anomaly in the control of intracellular and/or extracellular fluid abnormal fluid regulation AE MP: MP_0001784 OAE:0000547 a glucose homeostasis AE which has an outcome of hyperglycemia, which is an abnormally high concentration of glucose in the blood; generally refers to a pathological state YH, MW WEB: http://medical-dictionary.thefreedictionary.com/hyperglycemia 10020635 10020639 hyperglycemia AE CTCAE: E12276 MP: MP_0001559 NCIt: C26797 OAE:0000548 a homeostasis AE which has an outcome of abnormal ciculating bilirubin level, which is aberrant concentration in the blood of this yellow heme breakdown product According to the Vaccine Adverse Event Reporting System (VAERS), 'bilirubinemia'; is an adverse event that was mentioned in 221 VAERS reports (0.2%) during1991-2001 (Reference: PMID: 12825543). abnormal circulating bilirubin level AE MP: MP_0001569 OAE:0000549 a skin adverse event that has an outcome of cyanosis, a dark bluish or purple skin discoloration resulting from deficient oxygenation of the blood According to the Vaccine Adverse Event Reporting System (VAERS), 'cyanosis' is an adverse event that was mentioned in 1,804 VAERS reports (1.4%) during1991-2001 (Reference: PMID: 12825543). 10011703 cyanosis AE HPO: HP_0000961 MP: MP_0001575 SIDER: C0010520 OAE:0000550 a hematopoietic system AE which has an outcome of anemia, which is less than normal levels of red blood cells and/or hemoglobin within red blood cells, or volume of packed red blood cells in the bloodstream, resulting in insufficient oxygenation of tissues and organs anaemia AE WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001586/ 10002034 10002272 anemia AE CTCAE: E10010 MP: MP_0001577 NCIt: C2869 OAE:0000551 an abnormal blood pressure AE that has an outcome of sustained low blood pressure at a level that is likely to result in cardiovascular disease and/or other pathological states YH, MW blood pressure decreased, low blood pressure 10005734 10021097 hypotension AE CTCAE: E13791 HPO: HP_0002615 MP: MP_0001596 NCIt: C3128 SIDER: C0020649 OAE:0000552 an arrhythmia AE that has an outcome of uneven timing of heart contraction irregular heartbeat AE MP: MP_0001636 OAE:0000553 an electrolyte lab test abnormal AE that shows an abnormal level of an electrolyte in the blood YH, MW electrolyte blood test abnormal AE OAE:0000554 a digestive system AE which has an outcome of abnormal digestion, which is an altered ability of the mechanical, chemical, and enzymatic processes of the body to convert ingested food into material suitable for assimilation for synthesis of tissues or liberation of energy abnormal digestion AE MP: MP_0001664 OAE:0000555 an AE that occurs in the homeostasis system. anomaly in the processes involved in the maintenance of an internal equilibrium of various functions and chemical or protein composition of the fluids and tissues homeostasis AE MP: MP_0001764 OAE:0000556 an abnormal fluid regulation AE which has an outcome of edema, which is an accumulation of an excessive amount of watery fluid in cells or intercellular tissues oedema, swelling, dropsy WEB: http://en.wikipedia.org/wiki/Oedema WEB: http://en.wikipedia.org/wiki/Swelling_(medical) 10016807 10030095 10042674 edema AE MP: MP_0001785 OAE:0000557 an immune system disorder AE that results in complex biological response of vascular tissues to harmful stimuli, such as pathogens, damaged cells, or irritants. Inflammation is a protective attempt by the organism to remove the injurious stimuli as well as initiate the healing process for the tissue greater than expected response to injury, infection, or insult. SS, YH WEB: http://en.wikipedia.org/wiki/Inflammation 10061218 inflammation AE HPO: HP_0007891 MP: MP_0001846 SIDER: C0021368 OAE:0000558 an inflammation AE which has an outcome of brain inflammation, which is local accumulation of fluid, plasma proteins, and leukocytes in the brain According to the Vaccine Adverse Event Reporting System (VAERS), 'encephalitis' is an adverse event that was mentioned in 480 VAERS reports (0.4%) during1991-2001 (Reference: PMID: 12825543). brain inflammation AE MP: MP_0001847 OAE:0000559 an ear disorder AE which has an outcome of increased susceptibility to otitis media, which is greater likelihood of middle ear inflammation, with an accumulation of a thick, mucous-like fluid; usually associated with a viral or bacterial respiratory infection increased susceptibility to otitis media AE MP: MP_0001850 OAE:0000560 an eye disorder AE which has an outcome of eye inflammation, which is local accumulation of fluid, plasma proteins, and leukocytes in the eye 10015943 eye inflammation AE HPO: HP_0100533 MP: MP_0001851 SIDER: C0239429 OAE:0000561 an eye inflammation AE which has an outcome of conjunctivitis, which is inflammation of the mucous membrane that lines the inner surface of the eyelids and the front of the eyeball 10010741 conjunctivitis AE CTCAE: E10355 HPO: HP_0000509 MP: MP_0001852 NCIt: C34504 SIDER: C0009763 OAE:0000562 an inflammation AE that shows a local accumulation of fluid, plasma proteins, and leukocytes in the liver According to the Vaccine Adverse Event Reporting System (VAERS), 'hepatitis' was mentioned in 387 VAERS reports (0.3%) during1991-2001 (Reference: PMID: 12825543). YH, JX liver inflammation AE MP: MP_0001860 OAE:0000563 aa inflammation AE which has an outcome of lung inflammation, a local accumulation of fluid, plasma proteins, and leukocytes in the lung According to the Vaccine Adverse Event Reporting System (VAERS), 'pneumonia' was mentioned in 879 VAERS reports (0.7%) during1991-2001 (Reference: PMID: 12825543). lung inflammation AE MP: MP_0001861 OAE:0000564 an inflammation AE which occurs in the respiratory system, which is reflected with the local accumulation of fluid, plasma proteins, and leukocytes in the respiratory system respiratory system inflammation AE MP: MP_0002405 OAE:0000565 an inflammation AE that has an outcome of vasculitis, which is an inflammation of a blood or lymph vessel It's an inflammation. YH, MW 10047115 vasculitis AE CTCAE:E13837 HPO: HP_0002633 MP: MP_0001864 NCIt:C26912 SIDER: C0042384 OAE:0000566 an inflammation AE which has an outcome of salivary gland inflammation, which is local accumulation of fluid, plasma proteins, and leukocytes in the salivary gland salivary gland inflammation AE MP: MP_0001870 OAE:0000567 a respiratory system inflammation AE which has an outcome of sinus inflammation, an inflammation of paranasal sinuses, which may be due to infection, allergy, or autoimmune issues. According to the Vaccine Adverse Event Reporting System (VAERS), 'sinusitis'; is an adverse event that was mentioned in 298 VAERS reports (0.2%) during1991-2001 (Reference: PMID: 12825543). SS, YH, RR sinus inflammation AE WEB: http://en.wikipedia.org/wiki/Sinusitis 10040753 sinusitis AE CTCAE: E11563 HPO: HP_0000246 MP: MP_0001872 NCIt: C35024 SIDER: C0037199 OAE:0000568 a hypersensitivity AE which results in an allergic response showing a marked increase in reactivity to an antigen upon subsequent exposure. JX, LW, YH allergic reaction AE allergic response AE anaphylactic reaction AE WEB: http://en.wikipedia.org/wiki/Allergy 变态反应 过敏反应 10001718 10001738 allergy AE CTCAE: E11248 MP: MP_0001878 NCIt: C3114 OAE:0000569 a nervous system AE which has an outcome of abnormal cerebrospinal fluid production, an anomaly in the normal output of the fluid that fills the ventricles and other cavities of the brain and spinal cord abnormal cerebrospinal fluid production AE MP: MP_0001911 OAE:0000570 an AE that occurs in nervous system. KY, YH nervous system disorder AE URL: http://www.hopkinsmedicine.org/healthlibrary/conditions/nervous_system_disorders/overview_of_nervous_system_disorders_85,P00799/ 10029202 nervous system AE MP: MP_0003633 OAE:0000571 a respiratory system AE which has an outcome of abnormal respiration, an anomaly in the movement of gases into and out of the lung According to the Vaccine Adverse Event Reporting System (VAERS), 'respiratory disorder' is an adverse event that was mentioned in 556 VAERS reports (0.4%) during1991-2001 (Reference: PMID: 12825543). Not sure if it is same as respiratory system disorder or abnormal respiration. --Oliver He abnormal respiration AE MP: MP_0001943 OAE:0000572 an abnormal respiration AE which has an outcome of apnea, temporary cessation of breathing; sometimes episodic According to the Vaccine Adverse Event Reporting System (VAERS), 'apnea' is an adverse event that was mentioned in 1,618 VAERS reports (1.3%) during1991-2001 (Reference: PMID: 12825543). JX, YH, MW MedDRA: 10002974 is for "apnoea"; MedDRA: 10002972 is for "apnea". apnoea AE respiratory arrest AE WEB: http://medical-dictionary.thefreedictionary.com/apnea apnea AE CTCAE: E13306 MP: MP_0001957 NCIt: C26698 UMLS CUI: C0003578 OAE:0000573 an ear disorder AE which has an outcome of deafness, which is an inability to hear 10011878 deafness AE HPO: HP_0000365 MP: MP_0001967 SIDER: C0011053 OAE:0000574 an adverse event that occurs in a gustatory system YH, JX gustatory system AE MP: MP_0001985 OAE:0000575 a gustatory system AE which has an outcome of taste sensitivity, or changes in the ability to perceive a particular flavor or suggestion of something imparting a flavor by the chemoreceptors of the gustatory system taste sensitivity AE MP: MP_0001986 OAE:0000576 a urinary system AE that has an outcome of excessive or abnormally large production or passage of urine. LW, ML, JX, YH WEB: http://en.wikipedia.org/wiki/Polyuria 多尿 10036142 polyuria AE OAE:0000577 an abnormal vision AE which has an outcome of blindness, which is loss of the sense of sight 10005169 blindness AE HPO: HP_0000618 MP: MP_0002001 SIDER: C0456909 OAE:0000578 an eye disorder AE which has an outcome of abnormal vision, which is an inability or decreased ability to see abnormal vision AE MP: MP_0002090 OAE:0000579 a behavior and neurological AE that shows a sudden surge of electrical activity in the brain. YH, JX, YH WEB: http://www.healthline.com/symptom/seizures 突然发作 10039906 10039910 seizure AE CTCAE: E12804 MP: MP_0002064 NCIt: C2962 OAE:0000580 an adverse event that has an outcome of an abnormal behavior and neurological phenotype. YH, JX behavior AE behavioral AE behavioral disorder AE disruptive behavioral disorder AE WEB: http://www.psychguides.com/guides/behavioral-disorder-symptoms-causes-and-effects/ any anomaly in the actions, reactions, or performance of an organism in response to external or internal stimuli compared to controls behavioral and neurological AE MP: MP_0004924 OAE:0000581 a behavior and neurological AE that has an outcome of altered ability to coordinate voluntary movement or repetitive, compulsive movements 10028035 movement disorder AE HPO: HP_0100022 MP: MP_0002066 SIDER: C0026650 OAE:0000582 a behavior and neurological AE that has an outcome of inability or altered ability to respond to a sensory stimulus sensory capability AE MP: MP_0002067 OAE:0000583 a homeostasis AE which has an outcome of glucose homeostasis, which is an anomaly in the processes involved in the maintenance of an internal equilibrium of glucose in the fluids and tissues glucose homeostasis AE MP: MP_0002078 OAE:0000584 Hypersensitivity AE is a immune system AE that is a set of undesirable reactions produced by the normal immune system, including allergies and autoimmunity. These reactions may be damaging, uncomfortable, or occasionally fatal. JX, LW, YH hypersensitivity reaction AE WEB: http://en.wikipedia.org/wiki/Hypersensitivity 超敏反应 10020751 hypersensitivity AE HPO: HP_0100326 MP: MP_0002148 SIDER: C0020517 OAE:0000585 YH Muscle atrophy is a wasting of muscle tissue resulting in a derangement of the muscle fibers; occurs with age, immobilization, weightlessness, malnutrition or denervation. a muscle adverse event AE which has an outcome of muscular atrophy. muscular atrophy AE MP: MP_0002269 OAE:0000586 an abnormal respiration AE which has an outcome of hyperventilation, i.e., increased alveolar ventilation relative to metabolic carbon dioxide production; results in carbon dioxide pressure decreasing below normal According to the Vaccine Adverse Event Reporting System (VAERS), 'Petechiae' was mentioned in 510 VAERS reports (0.4%) during1991-2001 (Reference: PMID: 12825543). 10020910 hyperventilation AE HPO: HP_0002883 MP: MP_0002320 SIDER: C0020578 OAE:0000587 an abnormal respiration AE which has an outcome of hypoventilation, i.e., reduced alveolar ventilation relative to metabolic carbon dioxide production; results in alveolar carbon dioxide pressure increasing above normal According to the Vaccine Adverse Event Reporting System (VAERS), 'hypoventilation' is an adverse event that was mentioned in 321 VAERS reports (0.2%) during1991-2001 (Reference: PMID: 12825543). QL, YH respiratory depression AE WEB: https://en.wikipedia.org/wiki/Hypoventilation 呼吸抑制 10021133 10038678 hypoventilation AE HPO: HP_0007110 MP: MP_0002321 SIDER: C0398353 OAE:0000588 an adverse event which occurs in a hematopoietic system, which is any structural or developmental anomaly of the blood cells or the organs associated with the development and formation of blood cells hematopoietic system AE MP: MP_0002396 OAE:0000589 an eye disorder AE which has an outcome of mydriasis, which is dilation of one or both pupils regardless of light conditions 10028521 mydriasis AE HPO: HP_0011499 MP: MP_0002546 SIDER: C0026961 OAE:0000590 an arrhythmia AE that has an outcome of greater than average resting heart beats per minute, usually measured by the number of times the heart ventricles contract per unit of time, usually per minute tachycardia WEB: http://en.wikipedia.org/wiki/Tachycardia 10019303 increased heart rate AE MP: MP_0002626 OAE:0000591 a behavior and neurological AE that has an outcome of exaggerated reflex action hyperresponsive to tactile stimuli AE MP: MP_0002738 OAE:0000592 a muscle spasm AE that has an outcome of opisthotonus YH 10030899 opisthotonus is a form of tetanic spasm in which the head, neck and spine are bent backward and the body is bowed forward opisthotonus AE HPO: HP_0002179 MP: MP_0002880 SIDER: C0151818 OAE:0000593 An joint disorder AE that has an outcome of joint inflammation, which is local accumulation of fluid, plasma proteins, and leukocytes in the joints YH joint inflammation AE MP: MP_0002933 OAE:0000594 an abnormal enzyme level AE which has an outcome of incraesed lactate dehydrogenase level, which is greater than the normal concentration of this enzyme, which catalyzes the interconversion of lactate and pyruvate increased lactate dehydrogenase level AE MP: MP_0002944 OAE:0000595 an abnormal enzyme level AE which has an outcome of increased circulating alkaline phophatase level, which is an elevated activity of this enzyme, which hydrolyzes orthophosphoric monoesters, found in the blood increased circulating alkaline phosphatase level AE MP: MP_0002968 OAE:0000596 A joint inflammation AE that has an outcome of arthritis, marked by changes in the synovial membranes and thickening of articular structures, widespread degeneration of the collagen fibers in connective tissues, and by atrophy and rarefaction of bony structures YH, MW 关节炎 10003246 arthritis AE CTCAE:E12378 HPO: HP_0001369 MP: MP_0002993 NCIt:C2883 SIDER: C0003864 OAE:0000597 a digestive system AE which has an outcome of dysphagia, which is a behavior and neurological AE that has an outcome of difficulty in swallowing food or liquid 10013950 dysphagia AE CTCAE: E10621 HPO: HP_0002015 MP: MP_0003158 NCIt: C2980 SIDER: C0011168 OAE:0000598 an ear disorder AE which has an outcome of decreased lateral semicircular canal size, which is small size of the lateral long bony tube of the labyrinth that is involved in the sense of balance decreased lateral semicircular canal size AE MP: MP_0003162 OAE:0000599 a hematopoietic system AE which has an outcome of decreased platelet count, which is fewer than the normal numbers of the non-nucleated cells found in the blood and involved in blood coagulation SS, YH decreased platelet cell number AE 10035528 platelet count decreased AE CTCAE: E12207 HPO: HP_0001873 MP: MP_0003179 NCIt: C3408 SIDER: C0392386 OAE:0000600 an abnormal digestion AE which has an outcome of nausea, a gastric discomfort associated with the inclination to vomit 10028813 nausea AE CTCAE: E10878 HPO: HP_0002018 MP: MP_0003259; MDR: 10028813 NCIt: C3258 SIDER: C0027497 OAE:0000601 regurgitation AE 10047700 an abnormal digestion AE which has an outcome of vomiting, the retrograde expulsion of gastric contents through the oral cavity vomiting AE CTCAE: E11068 HPO: HP_0002013 MP: MP_0003260; MDR: 10047700 NCIt: C3442 SIDER: C0042963 OAE:0000602 an abnormal defecation AE that has an outcome of constipation, which is incomplete, infrequent or difficult evacuation of fecal matter According to the Vaccine Adverse Event Reporting System (VAERS), 'constipation'; is an adverse event that was mentioned in 242 VAERS reports (0.2%) during1991-2001 (Reference: PMID: 12825543). infrequent bowel movements AE 10010774 constipation AE CTCAE: E10562 HPO: HP_0002019 MP: MP_0003267 NCIt: C37930 SIDER: C0009806 OAE:0000603 a digestive system AE that has an outcome of abnormal defecation, an anomaly in the production and excretion of feces abnormal defecation AE MP: MP_0003866 OAE:0000604 a urinary system AE that has an outcome of the symptom of urinary incontinence, which is the inability to control the urinary excretory functions. YH, MW MedDRA: 10046543 WEB: http://www.nlm.nih.gov/medlineplus/urinaryincontinence.html urinary incontinence AE CTCAE: E13042 HPO: HP_0000020 MP: MP_0003280 NCIt: C78497 SIDER: C0042024 OAE:0000605 clonus AE is a series of involuntary, rhythmic, muscular contractions and relaxations. SJ, YH WEB: http://en.wikipedia.org/wiki/Clonus 10009346 clonus AE causes large motions that are usually initiated by a reflex. clonus AE OAE:0000606 a skin discoloration AE which has an outcome of pallor, an unnatural paleness to the skin, generally attributable to anemia 10033546 pallor AE HPO: HP_0008361 MP: MP_0003717 SIDER: C0030232 OAE:0000607 an hearing disorder AE that shows a persistent sensation of buzzing, ringing, clicking, or other noises in the ear 10043882 tinnitus AE CTCAE: E10287 HPO: HP_0000360 MP: MP_0003741 NCIt: C50772 SIDER: C0040264 OAE:0000608 a digestive system AE which has an outcome of stomatitis, which is an inflammation of the mucous lining of the mouth This is a type of inflammation. WEB: http://medical-dictionary.thefreedictionary.com/stomatitis 10042128 stomatitis AE HPO: HP_0010280 MP: MP_0003746 SIDER: C0038362 OAE:0000609 a digestive system AE which has an outcome of mouth mucosal ulceration, which is lesions through the mucous membrane of the mouth, usually associated with loss of tissue According to the Vaccine Adverse Event Reporting System (VAERS), 'mouth ulceration' was mentioned in 246 VAERS reports (0.2%) during1991-2001 (Reference: PMID: 12825543). mouth mucosal ulceration AE MP: MP_0003747 OAE:0000610 a muscle adverse event AE that has an outcome of abnormal muscle tone, which is an anomaly in the resting tautness or laxity of a muscle, normally somewhere in the middle of the range between total contraction and total relaxation YH abnormal muscle tone AE MP: MP_0004142 OAE:0000611 an abnormal muscle tone AE which has an outcome of hypertonia, which is increased muscle tension resulting in stiffness of the muscles in the resting state YH 10020852 hypertonia AE HPO: HP_0001276 MP: MP_0004143 SIDER: C0026826 OAE:0000612 an abnormal muscle tone AE which has an outcome of hypotonia, which is decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness YH 10021118 hypotonia AE HPO: HP_0009062 MP: MP_0004144 SIDER: C0026827 OAE:0000613 a muscle inflammation AE which has an outcome of myositis, which is an inflammation of skeletal muscle; local accumulation of fluid, plasma proteins, and leukocytes in the striated muscle YH, MW 10028653 myositis AE CTCAE:E12489 HPO: HP_0009071 MP: MP_0004510 NCIt:C27578 SIDER: C0027121 OAE:0000614 a muscle adverse event which has an outcome of muscle inflammation, which is a local accumulation of fluid, plasma proteins, and leukocytes in muscle YH muscle inflammation AE MP: MP_0004511 OAE:0000615 a lymphocyte count abnormal AE that has an outcome of greater than normal number of the cells involved in adaptive immune reactions of the body in most inflammatory and autoimmune diseases, including B cells, T cells and natural killer cells According to the Vaccine Adverse Event Reporting System (VAERS), 'lymphocytosis'; is an adverse event that was mentioned in 129 VAERS reports (0.1%) during1991-2001 (Reference: PMID: 12825543). EB increased lymphocyte cell number AE lymphocyte cell number increased AE 10025258 lymphocyte count increased AE CTCAE: E12195 MP: MP_0005013 NCIt: C34791 OAE:0000616 an abnormal defecation AE that has an outcome of diarrhea, which is abnormally frequent discharge of semi-solid or fluid fecal matter from the bowel diarrhoea AE WEB: http://medical-dictionary.thefreedictionary.com/diarrhea 10012735 diarrhea AE CTCAE: E10572 MP: MP_0005036 NCIt: C2987 OAE:0000617 a homeostasis AE which has an outcome of hypoxia, which is a reduced concentration of O2 in the blood, alveoli or other tissues resulting in the decreased pressure of this component of body gases YH, MW WEB: http://medical-dictionary.thefreedictionary.com/hypoxia 10021143 hypoxia AE CTCAE:E13388 HPO: HP_0002795 MP: MP_0005039 NCIt:C3890 SIDER: C0242184 OAE:0000618 an infectious adverse event which has an outcome of the presence of various pathogenic organisms, or their toxins, in the blood or tissues that results in the infections in blood stream. According to the Vaccine Adverse Event Reporting System (VAERS), 'sepsis' was mentioned in 416 VAERS reports (0.3%) during1991-2001 (Reference: PMID: 12825543). SS 10040047 sepsis AE CTCAE: E11560 HPO: HP_0002718 MP: MP_0005044 NCIt: C3364 SIDER: C0243026 OAE:0000619 a urinary system AE that results in the presence of blood in the urine YH, SJ, MW UMLS CUI: C0018965 (hematuria AND haematuria); UMLS CUI: C0947999 (blood urine presence) blood urine blood urine presence haematuria AE WEB: http://kidney.niddk.nih.gov/kudiseases/pubs/hematuria/ 10018867 10018870 10019450 hematuria Hematuria AE can be caused by menstruation, vigorous exercise, sexual activity, viral illness, trauma, or infection, such as a urinary tract infection (UTI), along with more serious disorders such as cancer, disease, and clotting. hematuria AE CTCAE: E13000 MP: MP_0005161 NCIt: C3090 OAE:0000620 a homeostasis AE which has an outcome of abnormal enzyme level, which is an altered level of any enzyme or their cofactors, that act as catalysts to induce chemical changes in other substances abnormal enzyme level AE MP: MP_0005319 OAE:0000621 an arrhythmia AE that has an outcome of fewer than average resting heart beats per minute, usually measured by the number of times the heart ventricles contract per unit of time, usually per minute YH, JX heart rate decreased AE 10019301 decreased heart rate AE MP: MP_0005333 OAE:0000622 an adverse event that has an outcome of urinary system AE is a functional anomaly of any of the organs involved in the production or excretion of urine YH urinary system AE MP: MP_0005502 OAE:0000623 an abnormal body temperature AE which has an outcome of decreased body temperature, which is less than the level of heat natural to a living being YH, SJ decreased body temperature AE 10021113 Hypothermia AE is a medical emergency that occurs when your body loses heat faster than it can produce heat, causing a dangerously low body temperature. hypothermia AE CTCAE: E11122 MP: MP_0005534 NCIt: C78351 OAE:0000624 a homeostasis AE whic has an outcome of abnomal body temperature, which is a deviation in the level of heat natural to a living being abnormal body temperature AE MP: MP_0005535 OAE:0000625 a peripheral neuropathy AE which has an outcome of neuritis, the local accumulation of fluid, plasma proteins, and leukocytes in the brain and/or spinal cord 10029240 neuritis AE MP: MP_0006082 OAE:0000626 diplopia AE 10013036 an abnormal vision AE which has an outcome of double vision, which is two images perceived when only a single object is present double vision AE MP: MP_0006150 OAE:0000627 an anemia AE which has an outcome of hypochromic anemia, which is a hemoglobin deficiency resulting from a reduction in the concentration of hemoglobin in red cells, resulting in insufficient oxygenation of tissues and organs hypochromic anemia AE MP: MP_0008387 OAE:0000628 an adverse event that is indicated by an abnormal result of an investigation that uses some laboratory equipment, device, or medical technology. This term is used to replace 'lab test abnormal AE'. The reason for this is that some test, like X-ray test, is not considered by many physicians as a lab test. Therefore, we have used this new term to cover a broader scope. All terms asserted under this term represent the investigation results without defined conclusion of disease. EB, SS, YH laboratory test abnormal 10061253 investigation result abnormal AE OAE:0000629 a movement disorder AE that has an outcome of nervous According to the Vaccine Adverse Event Reporting System (VAERS), 'nervousness' is an adverse event that was mentioned in 583 VAERS reports (0.5%) during1991-2001 (Reference: PMID: 12825543). increased, skittish, behavior induced by stimulation such as handling, touching or noise nervous AE MP: MP_0008912 OAE:0000630 a hemorrhage AE that has an outcome of ecchymosis 10014080 an ecchymosis is a spot caused by loss of blood from a vessel; it implies a larger size than a petechiae, and has a more diffuse border than purpura; an ecchymosis can be caused by a bruise (which implies trauma), but can also be caused by bleeding diathesis ecchymosis AE HPO: HP_0000978 MP: MP_0009276 SIDER: C0013491 OAE:0000631 serious adverse event is an adverse event that requires in-patient hospitalization, or prolongation of existing hospitalization, or that causes congenital malformation, or that results in persistent or significant disability or incapacity, or that is life threatening or results in death. YH, MC serious adverse event severe adverse event WEB: http://en.wikipedia.org/wiki/Serious_adverse_event WEB: http://www.fda.gov/Safety/MedWatch/HowToReport/ucm053087.htm WEB: http://www.google.ca/url?sa=t&source=web&ct=res&cd=1&ved=0CA4QFjAA&url=http%3A%2F%2Fwww.irrd.ca%2Fethics%2Fimages%2FAdverse-event-definition.doc&ei=eqFMS-yFNZSoswOt6siKAQ&usg=AFQjCNGnQcwI8OXH7dqxwo4RgZEEn8X6lg&sig2=UNngkCdO5ZTFvbIB1pKuaA serious adverse event OAE:0000632 a serious adverse event that has an outcome of death. YH WEB: http://www.fda.gov/Safety/MedWatch/HowToReport/ucm053087.htm 10011906 10011914 death death AE CTCAE: E11080 HPO: HP_0001645 NCIt: C28554 SIDER: C1306577 OAE:0000633 a serious AE that is suspected to put the patient at substantial risk of dying at the time of the adverse event, or that the use or continued use of the device or other medical product might have resulted in the death of the patient. DJ, SS, YH, JX apparent life threatening event AE WEB: http://www.fda.gov/Safety/MedWatch/HowToReport/ucm053087.htm 10065044 life-threating AE OAE:0000634 a serious adverse event that leads to hospitalization. Such an adverse event resulted in an admission to the hospital or prolongation of hospitalization. YH, JX adverse event leading to hospitalization WEB: http://www.fda.gov/Safety/MedWatch/HowToReport/ucm053087.htm hospitalization AE OAE:0000635 a serious adverse event that leads to disability or permanent damage. Such an adverse event results in a substantial disruption of a person's ability to conduct normal life functions, i.e., the adverse event resulted in a significant, persistent or permanent change, impairment, damage or disruption in the patient's body function/structure, physical activities and/or quality of life. YH, JX adverse event leading to disability WEB: http://www.fda.gov/Safety/MedWatch/HowToReport/ucm053087.htm disability or permanent damage AE OAE:0000636 a serious adverse event that resulted in congenital anomaly and bith defect, leading to suspicions that an exposure to a medical product prior to conception or during pregnancy resulted in an adverse outcome in the child. YH, JX adverse event leading to congenital anomaly WEB: http://www.fda.gov/Safety/MedWatch/HowToReport/ucm053087.htm WEB: http://www.thefreedictionary.com/birth+defect 10010356 congenital anomaly or birth defect AE OAE:0000637 a serious adverse event which is an adverse event that requires intervention to prevent permanent impairment or damage leads to suspicions that the use of a medical product may result in a condition which requires a medical or surgical intervention to preclude permanent impairment or damage to a patient. YH, JX WEB: http://www.fda.gov/Safety/MedWatch/HowToReport/ucm053087.htm adverse event that requires intervention to prevent permanent impairment or damage OAE:0000638 an adverse event that is considered not serious. YH, MC WEB: http://www.google.ca/url?sa=t&source=web&ct=res&cd=1&ved=0CA4QFjAA&url=http%3A%2F%2Fwww.irrd.ca%2Fethics%2Fimages%2FAdverse-event-definition.doc&ei=eqFMS-yFNZSoswOt6siKAQ&usg=AFQjCNGnQcwI8OXH7dqxwo4RgZEEn8X6lg&sig2=UNngkCdO5ZTFvbIB1pKuaA non-serious adverse event OAE:0000639 low-grade fever AE is a fever adverse event with a temperature between 100° F and 102.2° F (37.8° C and 39° C). YH WEB: http://www.toyourhealth.com/mpacms/tyh/article.php?id=1521 The low-grade level of fever is beneficial. With most microbes/"bugs" that a child will be exposed to, this fever will assist the body in repelling the invader. low-grade fever AE OAE:0000640 moderate-grade fever AE is a fever adverse event with a temperature typically between 102.2° F and 104.5° F (39° C and 40° C). YH WEB: http://www.toyourhealth.com/mpacms/tyh/article.php?id=1521 This moderate-grade fever temperature is still considered beneficial. If a child's body has reached this temperature, it's what's needed to kill whatever bacteria or virus their body is attempting to fight. moderate-grade fever AE OAE:0000641 high-grade fever AE is a fever adverse event with a fever temperature greater than 104.5° F (40° C). YH WEB: http://www.toyourhealth.com/mpacms/tyh/article.php?id=1521 This fever may cause the child some discomfort and result in crankiness. Generally indicative of a bacterial infection, this fever means that the body is fighting something more serious than the common cold. high-grade fever AE OAE:0000642 hyperpyrexia AE is a fever adverse event that has an outcome of an excessive and unusual elevation of set body temperature greater than or equal to 41 °C. It is an extremely high fever. Such a high temperature is considered a medical emergency as it may indicate a serious underlying condition such as sepsis. YH extreme pyrexia AE Axelrod YK1, Diringer MN. Temperature management in acute neurologic disorders. Neurol Clin. 2008 May;26(2):585-603, xi. doi: 10.1016/j.ncl.2008.02.005. PMID: 18514828. WEB: http://en.wikipedia.org/wiki/Hyperpyrexia 10020741 hyperpyrexia AE HPO: HP_0001945 SIDER: C0392676 OAE:0000643 a pain AE that has an outcome of musculoskeletal pain SS, YH WEB: http://www.webmd.com/pain-management/guide/musculoskeletal-pain 10028391 Musculoskeletal pain is pain that affects the muscles, ligaments and tendons, along with the bones. musculoskeletal pain AE HPO: HP_0003326 SIDER: C0026858 OAE:0000644 injection-site erythema AE is an erythema AE that results in redness of skin, caused by hyperermia of the capillaries in the lower layers of the skin at the physical area of injection SS, YH WEB: http://en.wikipedia.org/wiki/Erythema WEB: http://medical-dictionary.thefreedictionary.com/erythema 10022061 injection-site erythema AE OAE:0000645 Erythema AE is a skin adverse event that showns redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin. SS, YH reddish skin WEB: http://en.wikipedia.org/wiki/Erythema 10015150 erythema AE HPO: HP_0010783 MP:0001190 SIDER: C0041834 OAE:0000646 a headache AE that has an outcome of sinus headache YH, SS WEB: http://american-rhinologic.org/patientinfo.headache.phtml sinus headache is a headache located over the sinuses, (forehead, corners of the eye, and cheek areas). On occasion, the pain will be felt behind the eyes, in the back of the neck, or may extend into the upper teeth. sinus headache AE HPO: HP_0002315 SIDER: C0037195 OAE:0000647 an inflammation AE that occurs in the lung. It is often characterized as including inflammation of the parenchyma of the lung (that is, the alveoli) and abnormal alveolar filling with fluid (consolidation and exudation). SS, YH WEB: http://en.wikipedia.org/wiki/Pneumonia 10035664 pneumonia AE HPO: HP_0002090 SIDER: C0032285 OAE:0000648 lobar pneumonia is pneumonia AE that affects a large and continuous area of the lobe of a lung SS, YH WEB: http://en.wikipedia.org/wiki/Lobar_pneumonia 10024738 lobar pneumonia AE HPO: HP_0002090 SIDER: C0032300 OAE:0000649 axillary pain AE is a pain AE that occurs in the underarm (the area on the human body directly under the join where the arm connects to the shoulder) SS, YH axillary pain AE OAE:0000650 an cardiovascular adverse event that is a collection of blood outside the blood vessels, generally the result of hemorrhage, or more specifically, internal bleeding. It is commonly called a bruise. YH: MedDRA ID: 10018852 is for "haematoma"; MedDRA ID: 10019428 is for "hematoma". SS, YH bruise AE bruising AE ecchymoses AE haematoma AE WEB: http://en.wikipedia.org/wiki/Hematoma 10006504 10018852 10019428 hematoma AE CTCAE: E13775 (hematoma); CTCAE: E11666 (brruising) HPO: HP_0001892 NCIt: C37921 (Bruising); NCIt: C50579 (Hematoma) SIDER: C0018944 OAE:0000651 reproductive system AE is an AE that occurs in the reproductive system. YH, SS reproductive system AE OAE:0000652 an immune system disorder AE which has an outcome of antinuclear antibody negative SS, YH antinuclear antibody negative AE OAE:0000653 a CSF test result abnormal AE that has an outcome of CSF white blood cell count negative SS, YH, EB 10061099 CSF white blood cell count negative AE OAE:0000654 a microbiology and serology investigation result abnormal AE that has an outcome of positive influenza serology test result SS, YH, EB 10060078 influenza serology positive AE OAE:0000655 YH a paralysis AE that has an outcome of VIIth nerve paralysis 10050040 VIIth nerve paralysis AE HPO: HP_0006824 SIDER: C0919980 OAE:0000656 an aspartate aminotransferase level abnormal AE that has an outcome of an increased amount of AST, an enzyme normally present in body tissues especially of the heart and liver DJ, SS, YH, EB WEB: http://medical-dictionary.thefreedictionary.com/aspartate+aminotransferase 10003481 aspartate aminotransferase level increased AE CTCAE: E12087 NCIt: C26947 OAE:0000658 an immune system disorder AE which has an outcome of acute disseminated encephalomyelitis SS, YH WEB: http://en.wikipedia.org/wiki/Acute_disseminated_encephalomyelitis 10000709 Acute disseminated encephalomyelitis (ADEM) is an immune mediated disease of the brain. It usually occurs following a viral infection but may appear following vaccination, bacterial or parasitic infection, or even appear spontaneously. As it involves autoimmune demyelination, it is similar to multiple sclerosis, and is considered part of the Multiple sclerosis borderline diseases. acute disseminated encephalomyelitis AE OAE:0000659 an arrhythmia AE that involves the two upper chambers (atria) of the heart SS, YH AF WEB: http://en.wikipedia.org/wiki/Atrial_fibrillation WEB: http://medical-dictionary.thefreedictionary.com/atrial+fibrillation 10003658 Atrial fibrillation (AF or A-fib) is the most common cardiac arrhythmia (abnormal heart rhythm), and involves the two upper chambers (atria) of the heart. Its name comes from the fibrillating (i.e., quivering) of the heart muscles of the atria, instead of a coordinated contraction. atrial fibrillation AE CTCAE: E10081 HPO: HP_0005110 NCIt: C50466 SIDER: C0004238 OAE:0000660 a cardiac disorder AE which has an outcome of abnormal heart rhythm SS, YH abnormal heartbeat AE cardiac arrhythmia AE WEB: http://www.nhlbi.nih.gov/health/health-topics/topics/arr/ 10003119 arrhythmia AE HPO: HP_0011675 MP: MP_0004085 SIDER: C0003811 OAE:0000661 a cardiac valve disease AE that is characterized by a condition of the heart in which one of the valve openings has become narrow and restricts the flow of blood from the upper left chamber (left atrium) to the lower left chamber (left ventricle). SS WEB: http://medical-dictionary.thefreedictionary.com/mitral+valve+stenosis 10027733 mitral valve stenosis AE OAE:0000662 a blood creatinine level abnormal AE that has an outcome of decreased blood creatine SS, YH, EB 10005482 blood creatinine level decreased AE OAE:0000663 SS, YH, EB 10007223 carbon dioxide decreased AE a carbon dioxide abnormal AE that has an outcome of a decreased level of carbon dioxide in the blood OAE:0000665 an infection adverse event that has an outcome of croup infection SS, YH WEB: http://www.medicinenet.com/croup/article.htm Croup is an infectious illness of the respiratory system involving the vocal cords (larynx), the windpipe (trachea), and the upper airways of the lungs (bronchial tubes). The majority of a child's symptoms reflect involvement of the larynx. Croup is usually a viral infection and maybe caused by many different viruses, including those responsible for the common cold and influenza. Rarely, croup is caused by a bacterial infection. croup infection AE OAE:0000666 a respiratory system AE that has an outcome of the drawing of a foreign substance into the respiratory tract during inhalation DJ, SS, YH, MW WEB: http://medical-dictionary.thefreedictionary.com/aspiration 10003504 aspiration AE CTCAE:E13310 HPO: HP_0002835 NCIt:C15631 SIDER: C0700198 OAE:0000667 a respiratory system AE that has an outcome of the removal of gas or fluid from the pleural cavity of the lungs DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/aspiration 10003522 aspiration pleural cavity AE OAE:0000668 a skin adverse event which has an outcome of excoriation AE is an injury to a surface of the body caused by trauma, such as scratching, abrasion, or a chemical or thermal burn. SS, YH WEB: http://medical-dictionary.thefreedictionary.com/excoriation 10049796 excoriation AE OAE:0000669 a pain AE that has an outcome of facial pain SS, YH WEB: http://www.bettermedicine.com/article/facial-pain 10016059 facial pain is a pain in facial area (eyes, eyebrows, forehead, nose, cheeks, mouth, teeth and chin). Facial pain may include injuries to the nerves or bones that coordinate many of your face’s actions. facial pain AE CTCAE: E11094 HPO: HP_0100661 NCIt: C79594 SIDER: C0015468 OAE:0000670 a hematology investigation result abnormal AE that has an outcome of abnormal full blood count SS, YH, EB 10017412 10064198 full blood count abnormal AE OAE:0000672 a tumor AE that is characterized by cancer in the brain DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/astrocytoma 10003571 astrocytoma AE HPO: HP_0009592 SIDER: C0004114 OAE:0000674 a lung disorder AE that has an outcome of collapse in part of or all of a lung DJ, SS, YH, MW WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001130/ 10003598 atelectasis AE CTCAE:E13316 HPO: HP_0001642 NCIt:C2888 SIDER: C0004144 OAE:0000675 an influenza serology positive AE that has an outcome of positive result in an influenza virus test SS, YH, EB 10070717 influenza virus test positive AE OAE:0000676 joint range of motion decreased AE is a mobility decreased AE that results in limited or decreased range of joint motion SS, YH, MW 10048706 joint range of motion decreased AE CTCAE: E12435 NCIt: C78403 OAE:0000677 a muscle spasm AE which has an outcome of laryngospasm, which is an uncontrolled/involuntary muscular contraction (spasm) of the laryngeal cords. The condition typically lasts less than 60 seconds, and causes a partial blocking of breathing in, while breathing out remains easier. It may be triggered when the vocal cords or the area of the trachea below the cords detects the entry of water, mucus, blood, or other substance. It is characterized by stridor and or retractions. SS, YH, MW WEB: http://en.wikipedia.org/wiki/Laryngospasm 10023891 laryngospasm AE CTCAE:E13439 HPO: HP_0006511 NCIt:C79609 SIDER: C0023066 OAE:0000678 a lymphocyte percentage abnormal AE that has an outcome of decreased lymphocyte percentage SS, YH, EB 10052231 lymphocyte percentage decreased AE OAE:0000679 a monocyte percentage abnormal AE that has an outcome of increased monocyte percentage SS, YH, EB 10052230 monocyte percentage increased AE OAE:0000680 a nuclear magnetic resonance imaging result abnormal AE that has an outcome of abnormal nuclear magnetic resonance imaging test of the brain SS, YH 10029818 nuclear magnetic resonance imaging brain abnormal AE OAE:0000681 periorbial edema AE is an edema AE that has an outcome of swelling around the eye. MedDRA: 10034545 is for "periorbital edema"; MedDRA: 10054541 is for "periorbital oedema" SS, YH periorbital oedema AE periorbital puffiness WEB: http://en.wikipedia.org/wiki/Periorbital_puffiness Periorbital puffiness, also known as "puffy eyes" or swelling around the eyes, refers to the appearance of swelling in the tissues around the eyes, called the orbits. periorbital edema AE CTCAE: E13676 NCIt: C78530 UMLS CUI: C0151205 OAE:0000683 a blood magnesium abnormal AE that has an outcome of an abnormally high concentration of magnesium in the blood plasma, and may cause nausea, weakness and tremors. YH, MW WEB: http://emedicine.medscape.com/article/246489-overview 10020670 hypermagnesemia AE CTCAE: E12288 NCIt: C37969 UMLS CUI: C0151714 OAE:0000684 a sensory capability AE that has an outcome of a sensation feeling of foreign body SS, YH 10061549 sensation of foreign body AE OAE:0000685 a sensory capability AE that has an outcome of a sensation feeling of heaviness SS, YH feeling heavy AE sensation of heaviness AE OAE:0000686 a sensory capability AE that has an outcome of a loss of sensation SS, YH 10040030 sensory loss AE HPO: HP_0003474 SIDER: C0278134 OAE:0000687 a skin adverse event that has an outcome of skin exfoliation SS, YH 10040844 skin exfoliation AE HPO: HP_0007549 SIDER: C0237849 OAE:0000688 a digestive system AE which has an outcome of stomach discomfort SS, YH stomach upset AE 胃部不适 10042124 stomach discomfort AE OAE:0000689 an immunology and allergy investigation result abnormal AE that has an outcome of autoantibodies present DJ, SS, YH, EB WEB: http://medical-dictionary.thefreedictionary.com/autoantibody 10060973 autoantibody positive AE OAE:0000690 a wheezing AE which has an outcome of stridor, a high pitched wheezing sound resulting from turbulent air flow in the upper airway. It is primarily inspiratory. It can be indicative of serious airway obstruction from severe conditions such as epiglottitis, a foreign body lodged in the airway, or a laryngeal tumor. SS, YH, MW WEB: http://en.wikipedia.org/wiki/Stridor 10042241 stridor AE CTCAE:E13579 HPO: HP_0010307 NCIt:C78632 SIDER: C0038450 OAE:0000691 a skin AE that shows a result of skin ulcer, i.e., a sore on the skin or a mucous membrane, accompanied by the disintegration of tissue. Ulcers can result in complete loss of the epidermis and often portions of the dermis and even subcutaneous fat. SS, YH, MW skin ulcer AE WEB: http://en.wikipedia.org/wiki/Ulcer_%28dermatology%29 10040943 10040947 skin ulceration AE CTCAE: E13730 HPO: HP_0200042 NCIt: C54247 SIDER: C0037299 OAE:0000693 a respiratory tract congestion AE which has an outcome of upper respiratory tract congestion SS, YH upper respiratory tract congestion AE OAE:0000694 a urinary system investigation result abnormal AE that has an outcome of a urine analysis abnormality SS, YH, EB 10062226 urine analysis result abnormal AE OAE:0000695 a urine analysis result abnomal AE that shows ketone body present in urine SS, YH, EB, QL 10057597 urine ketone body present AE OAE:0000696 a liver/biliary system AE that has an outcome of inflammation of the liver that occurs when immune cells mistake the liver's normal cells for harmful invaders and attack them DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001291/ 10003827 autoimmune hepatitis AE HPO: HP_0004787 SIDER: C0241910 OAE:0000697 a hemorrhage AE that has an outcome of vaginal hemorrhage MedDRA: 10046910 is for "vaginal haemorrhage"; MedDRA: 10046912 is for "vaginal hemorrhage" SS, YH, MW vaginal haemorrhage AE WEB: http://www.brooksidepress.org/Products/Military_OBGYN/Textbook/AbnormalBleeding/Bleeding.htm vaginal hemorrhage is irregular/heavy bleeding from the vagina. Vaginal hemorrhage is more often associated with pregnancy complications such as miscarriage or placental abruption, but certainly can occur in the absence of pregnancy. vaginal hemorrhage AE CTCAE: E13264 NCIt: C26945 OAE:0000698 SS, YH WEB: http://en.wikipedia.org/wiki/Vasodilation a cardiovascular disorder AE which has an outcome of vasodilatation, which refers to the widening of blood vessels resulting from relaxation of smooth muscle cells within the vessel walls, particularly in the large arteries, smaller arterioles and large veins. vasodilatation AE HPO: HP_0004927 SIDER: C0595862 OAE:0000699 a bacterial infection AE that has an outcome of bacteria in the blood DJ, SS, YH bacteraemia AE WEB: http://medical-dictionary.thefreedictionary.com/bacteremia 10003997 bacteremia AE OAE:0000700 a sepsis AE caused by bacterial infection in the bloodstream or body tissues DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/sepsis 10053840 bacterial sepsis AE OAE:0000701 a skin AE that has an outcome of a slow-growing nonmelanoma skin cancer DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001827/ 10004146 basal cell carcinoma AE HPO: HP_0002671 SIDER: C0007117 OAE:0000702 a basophil count abnormal AE that is characterized by increase in the number of basophils in the body DJ, SS, YH, EB WEB: http://medical-dictionary.thefreedictionary.com/basophil+granulocyte 10004169 basophil count increased AE OAE:0000703 an ulcer AE that is characterized by ulcers in the mouth that may decrease ocular functionality DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/behcet's+disease 10004213 behcet's syndrome AE OAE:0000704 a musculoskeletal system AE that has an outcome of low muscle tone DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/hypotonia 10051900 benign congenital hypotonia AE OAE:0000705 a female reproductive system AE that has an outcome of a non-fertilized egg that implants itself in the uterus and turns a normal pregnancy into an abnormal one DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/hydatidiform+mole 10004272 benign hydatidiform mole AE OAE:0000706 a benign tumor AE that has an outcome of a benign tumor in their ovaries DJ, SS, YH benign ovarian tumour AE 10004433 benign ovarian tumor AE OAE:0000707 a digestive system AE that has an outcome of a blockage in the tubes that carry bile from the liber to the gallbladder and small intestine DJ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/000263.htm 10056375 bile duct obstruction AE OAE:0000708 a liver/biliary system AE that has an outcome of dilating or stretching of the bile duct DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/21843715 10057202 biliary dilatation AE OAE:0000709 an eating disorder that is characterized by episodes of uncontrollable eating. DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/binge+eating 10004716 binge eating AE OAE:0000710 an eye disorder AE that has an outcome of binocular eye movement disorder where control and alignment of eyes are compromised DJ, SS, YH WEB: Primary Source: http://www.ncbi.nlm.nih.gov/pubmed/23201436 Secondary Source: http://brain.oxfordjournals.org/content/119/6/1933.full.pdf 10061010 binocular eye movement disorder AE OAE:0000711 a digestive system AE that has an outcome of cancer that starts in the bladder, the body part that holds and releases urine in the center of the lower belly area DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001517/ 10005003 bladder cancer AE HPO: HP_0009725 SIDER: C0005684 OAE:0000712 a blast cell count abnormal AE that has an outcome of an increased amount of immature precursors of either lymphocytes or granulocytes that do not normally appear in peripheral blood. May indicate acute leukemia DJ, SS, YH WEB: http://meds.queensu.ca/medicine/deptmed/hemonc/anemia/blast.htm 10062274 blast cell count increased AE OAE:0000713 a hematopoietic system AE that has an outcome of a sudden, severe change in the course of chronic granulocytic leukemia with an increase in the proportion of myeloblasts DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/blast+crisis 10053747 blast cell crisis AE OAE:0000714 a hematopoietic system AE that has an outcome of myeloblasts or myeloid blasts. Presence of these abnormal blasts prevent production of adequate platelets, red blood cells and white blood cells, can be associated with leukemia DJ, SS, YH WEB: http://lymphoma.about.com/od/glossary/ss/Blast-Cells.htm 10057107 blast cells present AE OAE:0000715 a hematopoietic system AE that has an outcome of the last stage of chronic myelogenous leukemia characterized by rapid progression and short survival with an increase of myeloblasts or lymphoblasts in the blood or bone marrow DJ, SS, YH blast crisis in myelogenous leukaemia AE WEB: Primary Source: http://medical-dictionary.thefreedictionary.com/blast+crisis , Secondary Source: http://www.ncbi.nlm.nih.gov/pubmed/23171293 10050282 blast crisis in myelogenous leukemia AE OAE:0000716 an eye inflammation AE that has an outcome of swelling in the eyelids, usually where eyelash follicles are located DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002586/ 10005148 blepharitis AE HPO: HP_0000498 SIDER: C0005741 OAE:0000717 a blood albumin level abnormal AE with an outcome of a decrease in the amount of albumin, a protein made by the liver DJ, SS, YH, EB hypoalbuminemia AE WEB: http://www.nlm.nih.gov/medlineplus/ency/article/003480.htm 10005287 blood albumin level decreased AE OAE:0000718 a liver related investigation result abnormal AE that has an outcome of an abnormal level of alkaline phosphatase in the blood DJ, SS, YH, EB 10059571 blood alkaline phosphatase level abnormal AE OAE:0000719 a blood alkaline phosphatase abnormal AE that has an outcome of a decreased level of alkaline phosphatase in the blood DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/alkaline+phosphatase 10059569 blood alkaline phosphatase decreased AE OAE:0000720 a blood alkaline phosphatase abnormal AE that has an outcome of elevated levels of alkaline phosphatase, an enzyme responsible for removing phosphate groups. a liver/biliary system AE that has an outcome of an increased amount of ALP, an isoenzyme that removes phosphate groups commonly found in the bile ducts but also found in the bone DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/alkaline+phosphatase 10001675 10059570 blood alkaline phosphatase increased AE CTCAE: E12082 HPO: HP_0003155 NCIt: C35607 SIDER: C0852911 OAE:0000721 a distal neuropathy AE which shows a neurological disorder characterized by progressive weakness and impaired sensory function in the legs and arms. It is caused by the loss of myelin sheath of the peripheral nerves. AG, YH CIDP Chronic Inflammatory Demyelinating Polyneuropathy WEB: http://www.ninds.nih.gov/disorders/cidp/cidp.htm chronic inflammatory demyelinating neuropathy AE OAE:0000722 a blood amylase level abnormal AE that has an outcome of an increased amount of amylase, an enzyme that helps digest carbohydrates; may indicate disease or inflammation of the pancreas DJ, SS, YH, EB serum amylase increased AE WEB: http://www.nlm.nih.gov/medlineplus/ency/article/003464.htm 10005328 10040139 blood amylase level increased AE CTCAE: E12212 NCIt: C78608 OAE:0000723 a liver related investigation result abnormal AE that has an outcome of an abnormal amount of bilirubin in the blood DJ, SS, YH, EB WEB: http://medical-dictionary.thefreedictionary.com/bilirubin 10058477 blood bilirubin level abnormal AE OAE:0000724 a blood bilirubin level abnormal AE with an outcome of a increased amount of bilirubin, or a yellow breakdown product (broken down hemoglobin) of normal heme catabolism, in the blood DJ, SS, YH, EB WEB: http://medical-dictionary.thefreedictionary.com/bilirubin 10005364 blood bilirubin level increased AE CTCAE: E12096 NCIt: C27088 OAE:0000727 a blood cholesterol abnormal AE with the result of an increase in cholesterol level in the blood DJ, SS, YH, EB 10005425 blood cholesterol increased AE CTCAE: E12127 HPO: HP_0003124 NCIt: C37967 SIDER: C0595930 OAE:0000728 an enzyme investigation result abnormal AE that has an outcome of abnormal levels of creatine phosphokinase in the blood DJ, SS, YH, EB 10005468 blood creatine phosphokinase level abnormal AE OAE:0000729 a blood creatinine level abnormal AE that has an outcome of an increased level of creatinine in the blood (due to lack of kidney activity) DJ, SS, YH, EB creatinine increased AE serum creatinine increased WEB: http://medical-dictionary.thefreedictionary.com/creatinine 10005483 10011368 blood creatinine level increased AE CTCAE: E12137 NCIt: C78249 OAE:0000730 an infection adverse event that has an outcome of bacteria or yeasts in the blood DJ, SS, YH WEB: http://labtestsonline.org/understanding/analytes/blood-culture/tab/test 10005488 blood culture positive AE OAE:0000731 a hematopoietic system AE that has an outcome of disease in the blood, a living tissue made up of plasma and red blood cells, white blood cells and platelets. Blood disorders affect one or more parts of the blood and prevent the blood from doing this job. DJ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/blooddisorders.html 10061590 blood disorder AE OAE:0000732 a blood folate abnormal AE that has an outcome of a decreased level of folate in the blood DJ, SS, YH, EB WEB: http://medical-dictionary.thefreedictionary.com/folate 10005527 blood folate level decreased AE OAE:0000733 a blood glucose level abnormal AE that has an outcome of a decrease of glucose levels in blood DJ, SS, YH, EB 10005555 blood glucose level decreased AE OAE:0000734 a blood glucose level abnormal AE that has an outcome of an increased glucose level in blood DJ, SS, YH, EB 10005557 blood glucose level increased AE OAE:0000735 a blood homocysteine level abnormal AE that has an outcome of an increased levels of homocysteine in the blood DJ, SS, YH, EB WEB: http://medical-dictionary.thefreedictionary.com/homocysteine 10049733 blood homocysteine level increased AE OAE:0000736 an immunology and allergy investigation result abnormal AE that results in an increased immunoglobulin a level in the blood DJ, SS, YH, EB IgA level increased WEB: http://medical-dictionary.thefreedictionary.com/immunoglobulin+A 10005586 blood immunoglobulin A level increased AE OAE:0000737 a blood lactate dehydrogenase level abnormal AE that has an outcome of an increased amount of LDH, an enzyme that could indicate tissue damage DJ, SS, YH, EB WEB: http://www.nlm.nih.gov/medlineplus/ency/article/003471.htm 10005630 blood lactate dehydrogenase level increased AE OAE:0000739 a blood parathyroid hormone level abnormal AE that has an outcome of a decrease in the level of parathyroid hormone in the blood DJ, SS, YH, EB WEB: http://medical-dictionary.thefreedictionary.com/parathyroid+hormone 10005702 blood parathyroid hormone decreased AE OAE:0000742 a hypotension AE that has an outcome of a decrease in the amount of pressure in the arteries when the heart is at rest between beats DJ, SS, YH WEB: http://www.mayoclinic.com/health/low-blood-pressure/DS00590/DSECTION=causes 10005737 blood pressure diastolic decreased AE OAE:0000743 a hypotension AE that has an outcome of immeasurable blood pressure DJ, SS, YH 10005748 blood pressure immeasurable AE OAE:0000745 a blood thromboplastin level abnormal AE that has an outcome of an increase in the level of thromboplastin in the blood DJ, SS, YH, EB WEB: http://medical-dictionary.thefreedictionary.com/thromboplastin 10005827 blood thromboplastin level increased AE OAE:0000746 a blood urea level abnormal AE with an outcome of a decreased amount of urea nitrogen in the blood, below 7 to 21 mg of urea per 100 ml DJ, SS, YH, EB WEB: http://medical-dictionary.thefreedictionary.com/blood+urea+nitrogen 10005850 blood urea level decreased AE OAE:0000747 a blood urea level abnormal AE that results in an increase in amount of urea in blood DJ, SS, YH, EB 10005851 blood urea level increased AE OAE:0000748 a blood uric acid level abnormal AE that has an outcome of an increase in uric acid in the blood; excess purines may accumulate in tissues and form crystals DJ, SS, YH, EB WEB: http://chemocare.com/chemotherapy/side-effects/hyperuricemia-high-uric-acid.aspx 10005861 blood uric acid level increased AE OAE:0000749 a bone disorder AE that has an outcome of a cyst that forms on the bone DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/bone+cyst 10005952 bone cyst AE OAE:0000750 a bone disorder AE that has an outcome of surgery to clean and flush out the infected bone DJ, SS, YH WEB: http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Osteomyelitis 10057612 bone debridement AE OAE:0000751 a bone disorder AE that has an outcome of an anomlay in the growth or structure of a bone DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/20972590 10061728 bone lesion AE OAE:0000752 a bone marrow disorder AE that has an outcome of an abnormal condition in which the bone marrow is unable to produce normal amounts of red blood cells, white blood cells and platelets DJ, SS, YH, MW bone marrrow hypocellular hypocellular bone marrow WEB: http://en.diagnosispro.com/differential_diagnosis-for/bx-bone-marrow-biopsy-hypocellular/29777-154.html WEB: http://www.drugs.com/condition/bone-marrow-depression-low-blood-counts.html 10005986 10048580 Bone marrow produces three types of blood cells; red blood cells, white blood cells and platelets. Bone marrow depression is characterized by an inability or reduced ability of the bone marrow to produce these cells. A low blood count can involve just one or all three types of blood cells. bone marrow depression AE CTCAE: E10022 HPO: HP_0012145 NCIt: C35167 SIDER: C0151773 UMLS: C0151773 OAE:0000753 a hematopoietic system AE that has an outcome of disease in the bone marrow, the spongy tissue inside of some bones that contain stem cells that can develop into red blood cells, white blood cells or platelets DJ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/bonemarrowdiseases.html 10061729 bone marrow disorder AE OAE:0000754 a bone marrow disorder AE that has an outcome of an insufficient amount of red blood cells, white blood cells or platelets, associated with fanconii anemia, dyskeratosis congenita, and aplastic anemia DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/23271412 10065553 bone marrow failure AE OAE:0000755 a bone marrow disorder AE that has an outcome of an excess formation of connective tissue in the bone marrow DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/22246040 10069678 bone marrow reticulin fibrosis AE OAE:0000756 a bone marrow disorder AE that has an outcome of the decrease in cells responsible for providing immunity, carrying oxygen and blood clotting DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/12806941 10051779 bone marrow toxicity AE HPO: HP_0005561 SIDER: C0948168 OAE:0000757 a bone marrow disorder AE that has an outcome of the replacement of damaged bone marrow with healthy bone marrow stem cells DJ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/003009.htm 10061730 bone marrow transplant AE OAE:0000758 a swelling AE that results in swelling around a bone DJ, SS, YH 10053631 bone swelling AE OAE:0000759 a skin adverse event that has an outcome of an early stage of squamous cell carcinoma DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/bowen's+disease 10006059 bowen's disease AE OAE:0000760 a bradycardia AE that results in a decreased heart rate in a neonate DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/10822186 10056471 bradycardia neonatal AE HPO: HP_0001662 SIDER: C1112488 OAE:0000761 an edema AE that has an outcome of edema or swelling of the extravascular compartment from uptake of water in the gray and white matter DJ, SS, YH brain oedema AE WEB: http://medical-dictionary.thefreedictionary.com/cerebral+edema 10048962 brain edema AE HPO: HP_0002181 SIDER: C1527311 OAE:0000762 a tumor AE that has an outcome of cancer in the breast DJ, SS, YH 10006187 breast cancer AE HPO: HP_0003002 SIDER: C0006142 OAE:0000763 a breast cancer AE that has an outcome of cancerous cells spreading to the breast DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001911/ 10055113 breast cancer metastatic AE OAE:0000764 a breast cancer AE that has an outcome of breast cancer at the stage III level DJ, SS, YH 10006201 breast cancer stage iii AE OAE:0000765 an infection AE that results in the breast becoming infected DJ, SS, YH 10006259 breast infection AE CTCAE: E11318 HPO: HP_0002726 NCIt: C53662 SIDER: C0392317 OAE:0000766 a pain AE that results in pain in the breast DJ, SS, YH, MW 10006298 breast pain AE CTCAE:E13073 HPO: HP_0000769 NCIt:C78223 SIDER: C0024902 OAE:0000767 a reproductive system AE that has an outcome of pain or discomfort in the breast, may be caused by small benign tumors DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/21979747 10006313 breast tenderness AE HPO: HP_0100749 SIDER: C0262397 OAE:0000768 a pneumonia AE that has an outcome of acute inflammation of the walls of the smaller bronchial tubes, with irregular areas of consolidation due to spread of inflammation into peribronchiolar alveoli and the alveolar ducts of the lungs DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/bronchopneumonia 10006469 bronchopneumonia AE HPO: HP_0006538 SIDER: C0006285 OAE:0000769 an immune system disorder AE that has an outcome of an exaggerated response of the immune system to the fungus Aspergillus DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/bronchopulmonary+aspergillosis 10006473 bronchopulmonary aspergillosis AE HPO: HP_0002724 SIDER: C2350530 OAE:0000770 a lung disorder AE that has an outcome of a sudden constriction of the muscles in the walls of the bronchioles DJ, SS, YH, MW WEB: http://medical-dictionary.thefreedictionary.com/bronchospasm 10006482 bronchospasm AE CTCAE:E13352 HPO: HP_0002099 NCIt:C34439 SIDER: C0006266 OAE:0000771 a sensory capability AE that results in a feeling of burning DJ, SS, YH 10006784 burning sensation AE OAE:0000772 a syndrom AE that has an outcome of a wasting syndrome characterized by weight loss, muscle atrophy, fatigue, and loss of appetite, often occurs with cancer. DJ, SS, YH WEB: Primary Source: http://medical-dictionary.thefreedictionary.com/Wasting+Syndrome Secondary Source: http://www.ncbi.nlm.nih.gov/pubmed/23279159 10006895 cachexia AE HPO: HP_0004326 SIDER: C0006625 OAE:0000773 a digestive system AE that has an outcome of inflammation of the caecum, part of the large intestine DJ, SS, YH caecitis AE typhlitis AE WEB: http://medical-dictionary.thefreedictionary.com/caecitis 10006919 10045271 cecitis AE CTCAE: E11058 NCIt: C38043 OAE:0000774 an endocrine system AE that has an outcome of deficiency of calcium in the body DJ, SS, YH 10006956 calcium deficiency AE OAE:0000775 a cardiovascular disorder AE that has an outcome of self-reversing episodes during which the endothelial cells which line the capillaries are thought to separate for a few days, allowing for a leakage of fluid from the circulatory system to the interstitial space, resulting in hypotension, hemoconcentration, and hypoalbuminemia DJ, SS, YH, MW Clarkson's Disease AE WEB: http://www.ncbi.nlm.nih.gov/pubmed/22873043 10007196 capillary leak syndrome AE CTCAE:E13766 NCIt:C62578 OAE:0000776 a cytogenetic investigation result abnormal AE that has an outcome of an increase in a type of protein typically associated with tumors and the developing fetus DJ, SS, YH, EB WEB: http://www.medicinenet.com/carcinoembryonic_antigen/article.htm 10007266 carcinoembryonic antigen increased AE OAE:0000777 a tumor AE that has an outcome of a carcinoid tumor that forms somewhere in the body DJ, SS, YH carcinoid tumour AE WEB: http://www.ncbi.nlm.nih.gov/pubmed/23307266 10007275 carcinoid tumor AE HPO: HP_0006723 SIDER: C0007095 OAE:0000778 a blood chloride abnormal AE with an outcome of decrease in amount of chloride ion in the blood, excessive loss may be due to sweating, vomiting and adrenal gland/kidney disease YH, MW WEB: https://en.wikipedia.org/wiki/Hypochloremia 10020957 hypochloremia AE HPO: HP_0003113 UMLS CUI: C0085680 OAE:0000779 a cardiovascular disorder AE that results in the inability of the heart to provide sufficient pump action to distribute blood flow to meet the needs of the body DJ, SS, YH heart failure WEB: http://medical-dictionary.thefreedictionary.com/cardiac+failure 10007554 10019279 cardiac failure AE CTCAE: E10124 HPO: HP_0001635 NCIt: C50577 SIDER: C0018801 OAE:0000780 a cardiovascular disorder AE that results in an inability of the heart to provide sufficient pump action to distribute blood flow to meet the needs of the body DJ, SS, YH congestive heart failure WEB: Primary Source: http://medical-dictionary.thefreedictionary.com/congestive+heart+failure Secondary Source: http://www.ncbi.nlm.nih.gov/pubmed/21676684 10007559 cardiac failure congestive AE HPO: HP_0001635 SIDER: C0018802 OAE:0000782 a cardiac disorder AE that has an outcome of disease involving one or more of the valves of the heart DJ, SS, YH valvular disease AE WEB: http://medical-dictionary.thefreedictionary.com/valvular+heart+disease 10061406 cardiac valve disease AE HPO: HP_0001654 SIDER: C0018824 OAE:0000783 a cardiac disorder AE that has an outcome of a disorder involving the ventricle(s) in the heart DJ, SS, YH WEB: Primary Source: http://medical-dictionary.thefreedictionary.com/ventricular Secondary Source: http://www.ncbi.nlm.nih.gov/pubmed/15473469 10057455 cardiac ventricular disorder AE OAE:0000784 a hypotension AE that has an outcome of the inability of the heart to supply enough blood to the organs of the body because of heart damage DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001237/ 10007625 cardiogenic shock AE OAE:0000785 a cardiovascular disorder AE that has an outcome of deterioration of the function of the myocardium, usually leads to heart failure DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/cardiomyopathy WEB: https://en.wikipedia.org/wiki/Cardiomyopathy 10007636 cardiomyopathy AE HPO: HP_0001638 SIDER: C0878544 OAE:0000786 a cardiovascular disorder AE that has an outcome of heart electrophysiology dysfunction and/or muscle damage. Is not efficient at pumping/circulating blood DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/cardiomyopathy 10048610 cardiotoxicity AE OAE:0000787 a coronary artery disorder AE that results in lesion in carotid artery DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/8198401 10067116 carotid arteriosclerosis AE OAE:0000788 a musculoskeletal system AE that has an outcome of loss of muscle tone due to emotional responses like laughing and crying DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/cataplexy 10007737 cataplexy AE HPO: HP_0002524 SIDER: C0007384 OAE:0000789 a eye disorder AE that results in cloudiness that develops in the eye DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/cataract 10007739 cataract AE CTCAE: E10350 HPO: HP_0000518 NCIt: C26713 SIDER: C0086543 OAE:0000790 a sugery AE that has an adverse outcome related to the use of catheter, a thin tube inserted in the body DJ, SS, YH WEB: Primary Source: http://medical-dictionary.thefreedictionary.com/catheter Secondary Source: http://www.ncbi.nlm.nih.gov/pubmed/23306712 10052253 catheter related complication AE OAE:0000791 an infection AE that has an outcome of an infection (e.g., bacterial colonisation) at the catheter site DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/8825104 10007810 10056520 catheter related infection AE CTCAE: E11328 HPO: HP_0002719 NCIt: C78232 SIDER: C0860239 OAE:0000792 a bacterial infection AE that is located at the catheter site DJ, SS, YH 10056520 catheter site infection AE OAE:0000793 a sugery AE that has an adverse outcome at the site where a catheter was used DJ, SS, YH WEB: Primary Source: http://medical-dictionary.thefreedictionary.com/catheter Secondary Source: http://www.ncbi.nlm.nih.gov/pubmed/23074085 10007811 catheter site related reaction AE OAE:0000794 a cardiac disorder AE that has an outcome of a problem after inserting a catheter into the heart DJ, SS, YH catheterisation cardiac abnormal AE WEB: http://medical-dictionary.thefreedictionary.com/cardiac+catheterization 10007816 catheterization cardiac abnormal AE OAE:0000795 a behavior and neurological AE that has an outcome of an acute loss of function of the lumbar plexus DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/23230403 10007821 cauda equina syndrome AE OAE:0000796 a bacterial infection AE that is located at the central-line catheter site DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/7580945 10054192 central line infection AE HPO: HP_0002719 SIDER: C1096243 OAE:0000797 an infection AE that is located in the central nervous system DJ, SS, YH 10061036 central nervous system infection AE HPO: HP_0005381 SIDER: C0007684 OAE:0000798 a tumor AE that has an outcome of lymphoma in the central nervous system DJ, SS, YH 10007953 central nervous system lymphoma AE OAE:0000799 an ataxia AE that is located in the cerebellum DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/23283615 10008025 cerebellar ataxia AE HPO: HP_0001251 SIDER: C0007758 OAE:0000800 a brain disorder AE that has an outcome of an inherited brain disorder that affects muscle coordination, may involve the tendency for limb movements to overshoot or undershoot a target, tremors and impaired rhythm DJ, SS, YH WEB: http://www.rightdiagnosis.com/medical/cerebellar_syndrome.htm 10008072 cerebellar syndrome AE HPO: HP_0001317 SIDER: C0007760 OAE:0000801 a brain disorder AE with the outcome of hemorrhage or blood in the brain DJ, SS, YH cerebral haemorrhage AE 10008111 cerebral hemorrhage AE HPO: HP_0001342 SIDER: C2937358 OAE:0000802 a brain disorder AE that results in the sudden death of brain cells in a localized area due to inadequate blood flow DJ, SS, YH cerebral ischaemia AE ischemic stroke AE WEB: http://medical-dictionary.thefreedictionary.com/Cerebral+ischaemia 10008120 cerebral ischemia AE HPO: HP_0002637 SIDER: C0917798 OAE:0000803 a nervous system AE that has an outcome of pain or another sensation in the patient's neck and shoulder region DJ, SS, YH WEB: http://www.mdguidelines.com/cervicobrachial-syndrome/definition 10008334 cervicobrachial syndrome AE OAE:0000804 a skin AE that has an outcome of dry lips caused by the evaporation of moisture. DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/9433089 10049047 chapped lips AE OAE:0000805 an inflammation AE that occurs in the lip DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/cheilitis 10008417 cheilitis AE CTCAE: E10517 HPO: HP_0100825 NCIt: C79545 SIDER: C0007971 OAE:0000806 a skin AE that has an outcome of a burn due to chemicals on the skin DJ, SS, YH 10057941 chemical burn of skin AE OAE:0000807 a discomfort AE that has an outcome of pain in the chest DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/chest+pain 10008469 chest discomfort AE HPO: HP_0001681 SIDER: C0235710 OAE:0000808 alcohol cardiomyopathy AE OAE:0000809 a progressive tumor AE that has an outcome of multiple, malignant, localized green masses of abnormal cells, usually myeloblasts, especially beneath the periosteum of the skull, spine and ribs DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/chloroma 10008583 chloroma AE OAE:0000810 a digestive system AE that has an outcome of infection in the common bile duct, usually by bacterial infection DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001335/ 10008604 cholangitis AE HPO: HP_0011040 SIDER: NA OAE:0000811 a liver/biliary system AE that has an outcome of a condition in which the flow of bile from the liver is slowed or blocked DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001263/ 10008635 cholestasis AE HPO: HP_0001396 SIDER: C0008370 OAE:0000812 an adverse event that has an outcome of calcium crystals of calcium pyrophosphate dihydrate accumulated in the connective tissues of the patient DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/chondrocalcinosis 10008690 chondrocalcinosis pyrophosphate AE OAE:0000813 a cytogenetic investigation result abnormal AE that has an outcome of an abnormal chromosome pattern DJ, SS, YH, EB WEB: http://www.miscarriageclinic.co.uk/causes-and-treatments/chromosome-abnormality/ 10008817 chromosome analysis abnormal AE OAE:0000814 a peripheral neuropathy AE which has an outcome of a chemotherapy-induced neuropathy that affects nerves of the peripheral nervous system (PNS) AG, YH CIPN WEB: http://www.cancer.org/treatment/treatmentsandsideeffects/physicalsideeffects/chemotherapyeffects/peripheralneuropathy/peripheral-neuropathy-caused-by-chemotherapy-what-is-cipn chemotherapy-induced peripheral neuropathy AE OAE:0000815 a hematopoietic system AE that has an outcome of cancer of the white blood cells characterized by increased and unregulated growth of myeloid cells in the bone marrow DJ, SS, YH chronic myeloid leukaemia AE WEB: http://medical-dictionary.thefreedictionary.com/chronic+myelogenous+leukemia 10009013 chronic myeloid leukemia AE HPO: HP_0005506 SIDER: C0023473 OAE:0000816 a hematopoietic system AE that has an outcome of cancer of the white blood cells characterized by the increased and unregulated growth of predominantly myeloid cells in the bone marrow and the accumulation of these cells in the blood. May transform from chronic myeloid leukaemia to acute myeloid leukaemia DJ, SS, YH chronic myeloid leukaemia transformation AE WEB: http://www.jci.org/articles/view/41246 10068232 chronic myeloid leukemia transformation AE OAE:0000817 a lung disorder AE that has an outcome of breathing difficulty with two main forms: chronic bronchitis and emphysema DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001153/ 10009033 chronic obstructive pulmonary disease AE HPO: HP_0006510 SIDER: C0024117 OAE:0000818 a respiratory system AE that results in inadequate gas exchange by the respiratory system DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/respiratory+failure 10009126 chronic respiratory failure AE OAE:0000819 a respiratory system AE that has an outcome of inflammation in the cavities around the nasal passages DJ, SS, YH WEB: http://www.mayoclinic.com/health/chronic-sinusitis/DS00232 10009137 chronic sinusitis AE OAE:0000820 a lung disorder AE that has an outcome of lymphatic fluid accumulating in the pleural cavity, the space between two pleura of the lungs DJ, SS, YH, MW WEB: http://medical-dictionary.thefreedictionary.com/chylothorax 10051228 chylothorax AE CTCAE:E13358 NCIt:C79546 OAE:0000821 a cardiovascular disorder AE that has an outcome of insufficient circulation without congestive heart failure DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/circulatory+collapse 10009192 circulatory collapse AE OAE:0000822 a bacterial infection AE that has an outcome of invasion by anaerobic bacteria of the genus Clostridium, can cause tetanus and botulism DJ, SS, YH WEB: http://www.medicinenet.com/clostridium_difficile_colitis/page2.htm 10061043 clostridial infection AE HPO: HP_0004798 SIDER: C0009062 OAE:0000823 a digestive system AE that has an outcome of bacterial infection by clostridium difficile colitis, commonly results in diarrhea and colitis DJ, SS, YH 10009657 clostridium difficile colitis AE HPO: HP_0002583 SIDER: C0238106 OAE:0000824 a coagulation factor v level abnormal AE that has an outcome of a decreased level of the factor V protein in the coagulation system of the body DJ, SS, YH, EB WEB: http://www.ncbi.nlm.nih.gov/pubmed/22781721 10009754 coagulation factor v level decreased AE OAE:0000825 an inflammation AE that occurs at the large intestine DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002112/ 10009887 colitis AE CTCAE: E10521 HPO: HP_0002583 NCIt: C26723 SIDER: C0009319 OAE:0000826 a lung disorder AE that has an outcome of a collapsed lung, refering to the space between the wall of the chest cavity and the lung filling with air, causing all or a portion of the lung to collapse DJ, SS, YH Pneumothorax 10009913 collapse of lung AE OAE:0000827 a tumor AE that has an outcome of cancer that starts in the large intestine or the rectum DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001308/ 10009944 colon cancer AE HPO: HP_0003003 SIDER: C0007102 OAE:0000828 a colon AE that has an outcome of cancerous cells spreading to the colon DJ, SS, YH WEB: http://www.cancer.gov/cancertopics/factsheet/Sites-Types/metastatic 10055114 colon cancer metastatic AE OAE:0000829 a colon cancer AE that has an outcome of colon cancer at stage IV DJ, SS, YH 10009956 colon cancer stage iv AE OAE:0000830 a digestive system AE that has an outcome of cancer that starts in the large intestine or rectum. DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001308/ 10061451 colorectal cancer AE HPO: HP_0003003 SIDER: C1527249 OAE:0000831 a digestive system AE that has an outcome of cancer in the large intestine and the rectum. When metastatic, the cancer has already spead to distant sites and is considered stage IV. DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/22642873 10052358 colorectal cancer metastatic AE HPO: HP_0003003 SIDER: C0948380 OAE:0000832 an imaging investigation result abnormal AE that has an abnormal result of an imaging method in which a cross-sectional image of the structures in a body plane is reconstructed by a computer program from the x-ray absorption of beams projected through the body in the image plane DJ, SS, YH, EB computerised tomogram abnormal AE WEB: Primary Source: http://medical-dictionary.thefreedictionary.com/computerized+tomography , Secondary Source: http://www.ncbi.nlm.nih.gov/pubmed/23271098 WEB: http://medical-dictionary.thefreedictionary.com/computed+tomography 10010235 computerized tomography result abnormal AE OAE:0000833 an adverse event that has an outcome of progression of underlying conditions that may affect drug distribution or metabolism DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/Concomitant+disease 10048659 concomitant disease progression AE OAE:0000834 an adverse event that has an outcome of condition that worsens DJ, SS, YH 10010264 condition aggravated AE OAE:0000835 a congenital abnormality AE that has an outcome of an abnormality in heart which is present at birth DJ, SS, YH WEB: http://www.thefreedictionary.com/congenital+heart+defect 10061054 congenital cardiovascular anomaly AE HPO: HP_0001626 SIDER: C0243050 OAE:0000836 a cardiomyopathy AE that is characterized by the walls of the heart chambers stretching to hold a greater volume of blood than normal DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/congestive+cardiomyopathy 10056370 congestive cardiomyopathy AE HPO: HP_0001635 SIDER: C0007193 OAE:0000837 an eye disorder AE that has an outcome of a problem involving the insides of the patient's eyelids DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/conjunctiva 10061446 conjunctival disorder AE HPO: HP_0000502 SIDER: C0009759 OAE:0000838 a hemorrhage AE that has an outcome of a bright hemorrhagic patch on the bulbar conjunctiva caused by rupture and bleeding of a superficial small capillary due to increased pressure DJ, SS, YH conjunctival haemorrhage AE 10010719 conjunctival hemorrhage AE HPO: HP_0007902 SIDER: C0009760 OAE:0000839 an adverse event that has an outcome of disease in the biological tissue that supports, binds together and protects organs DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/connective+tissue+disease 10061087 connective tissue disorder AE HPO: HP_0003549 SIDER: C0009782 OAE:0000840 an eye disorder AE that has a result of the inability to use contact lenses DJ, SS, YH 10010804 contact lens intolerance AE OAE:0000841 a hematology investigation result abnormal AE that has an outcome of a positive coombs test, which is a blood test that identifies the causes of anemia DJ, SS, YH, EB WEB: http://medical-dictionary.thefreedictionary.com/Coombs'+Tests WEB: http://medical-dictionary.thefreedictionary.com/test 10061090 coombs' test positive AE OAE:0000842 a behavior and neurological AE that results in a loss of coordination DJ, SS, YH 10010947 coordination abnormal AE HPO: HP_0011443 SIDER: C0520966 OAE:0000844 a coronary artery disorder AE that has an outcome of an blockage in the coronary artery DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/22953315 10011084 coronary artery embolism AE OAE:0000845 a coronary artery disorder AE that has an outcome of an insufficient amount of blood circulates through the coronary arteries DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/coronary+insufficiency 10052895 coronary artery insufficiency AE HPO: HP_0001677 SIDER: C0542052 OAE:0000846 a tumor AE that has an outcome of a brain tumor derived from the embryonic tissue of the pituitary gland DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/craniopharyngioma 10011318 craniopharyngioma AE OAE:0000847 a c-reactive protein level abnormal AE that has an outcome of an increased amount of CRP, a protein that measure general levels of inflammation in the body DJ, SS, YH, EB WEB: http://www.webmd.com/a-to-z-guides/c-reactive-protein-crp moved "c-reactive protein increased AE" from "cardiac AE" to "lab test abnormal AE" EB 10006825 c-reactive protein level increased AE OAE:0000848 viral cardiomyopathy AE OAE:0000849 a nervous system AE that has an outcome of increased pressure in the skull DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/intracranial+pressure 10011570 csf pressure increased AE OAE:0000850 a urine analysis result abnormal AE that has an outcome of high bacterial colonization counts in the urine DJ, SS, YH, EB WEB: http://labtestsonline.org/understanding/analytes/urine-culture/tab/test 10011640 culture urine positive AE OAE:0000851 an inflammation AE that has an outcome of inflamed blood vessels in the skin DJ, SS, YH WEB: http://dermnetnz.org/vascular/vasculitis.html 皮肤血管炎 10011686 cutaneous vasculitis AE HPO: HP_0200029 SIDER: C0262988 OAE:0000852 a urinary system AE that has an outcome of cystitis with severe hemorrhage, a dose-limiting toxic condition with administration of ifosfamide and cyclophosphamide or a complication of bone marrow transplantation DJ, SS, YH cystitis haemorrhagic AE WEB: http://medical-dictionary.thefreedictionary.com/hemorrhagic+cystitis 10011793 cystitis hemorrhagic AE OAE:0000853 a genetic disorder AE that has an outcome of an atypical number of chromosomes or a structural abnormality in one or more chromosomes DJ, SS, YH 10067477 cytogenetic abnormality AE OAE:0000854 an inflammation AE that has an outcome of release of cytokines by T cells that causes inflammation DJ, SS, YH WEB: http://encyclopedia.thefreedictionary.com/cytokine+release+syndrome 10052015 cytokine release syndrome AE CTCAE: E11264 NCIt: C78251 OAE:0000855 a liver/biliary system AE that has an outcome of liver cells carrying excess water, causing inflammation along with hepatitis DJ, SS, YH WEB: http://www.thirdage.com/hc/c/q/hepatitis/1550008/what-is-cytolytic-hepatitis 10050904 cytolytic hepatitis AE HPO: HP_0004787 SIDER: C0919823 OAE:0000856 an inflammation AE that results in the inflammation of the colon DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/22874621 10048983 cytomegalovirus colitis AE OAE:0000857 a viral infection AE that is caused by cytomegalovirus DJ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/cytomegalovirusinfections.html 10011831 cytomegalovirus infection AE HPO: HP_0004429 SIDER: C0010823 OAE:0000858 a skin AE that has an outcome of shedding of the dead skin cells from the scalp DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/dandruff 10011859 dandruff AE HPO: HP_0001051 SIDER: C0221244 OAE:0000860 a skin ulcer AE that has an outcome of localized injuries to the skin and/or underlying tissue usually over a bony prominence as a result of pressure DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/pressure+ulcer 10011985 decubitus ulcer AE HPO: HP_0200042 SIDER: C0011127 OAE:0000861 a venous thrombosis that is characterized by a blood clot that forms in a vein deep in the body. Blood clots occur when blood thickens and clumps together. Most deep vein blood clots occur in the lower leg or thigh. They also can occur in other parts of the body. DJ, SS, YH DVT WEB: http://www.nhlbi.nih.gov/health/health-topics/topics/dvt/ Moved from Cardiac AE to thombosis AE by LB 10051055 deep vein thrombosis AE HPO: HP_0004850 SIDER: C0149871 OAE:0000862 a psychiatric disorder AE that results in a decline in level of cognitive function DJ, SS, YH, MW WEB: http://medical-dictionary.thefreedictionary.com/delirium 10012218 delirium AE CTCAE:E12898 NCIt:C2981 OAE:0000863 a tooth disorder AE that has an outcome of bacterial infection that causes demineralization and destruction of the hard tissues, resulting in dental cavities DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/dental+caries 10012318 dental caries AE CTCAE: E10568 HPO: HP_0000670 NCIt: C52593 SIDER: C0011334 OAE:0000864 a sensory capability AE that results in a lower level of arousal than normal DJ, SS, YH, MW WEB: http://www.ncbi.nlm.nih.gov/pubmed/23167919 10012373 depressed level of consciousness AE CTCAE:E12625 HPO: HP_0004372 NCIt:C78253 SIDER: C0549249 OAE:0000865 a dermatitis ae that is characterized by the eruption of papules and pustules, typically on the face, scalp, upper chest and back. DJ, SS, YH WEB: https://www.medify.com/conditions/acneiform-dermatitis 10012432 dermatitis acneiform AE HPO: HP_0001051 SIDER: C0234894 OAE:0000866 a dermatitis ae that is characterized by an inflammatory skin disease with erythmea and scaling, that has an outcome of widespread scaling of the skin, often with itching, skin redness and hair loss DJ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/001610.htm 10012455 dermatitis exfoliative AE HPO: HP_0011123 SIDER: C0011606 OAE:0000867 a muscle AE that has an outcome of muscle weakness, inflammation, skin rash and difficulty swallowing DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001842/ 10012503 dermatomyositis AE OAE:0000868 a motor neuropathy AE that has an outcome of poor coordination DJ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/001533.htm 10012557 developmental coordination disorder AE OAE:0000869 an injury and procedural complication AE that results in the dislocation of a device DJ, SS, YH 10064684 device dislocation AE OAE:0000870 an injury and procedural complication AE that results in the expulsion (vomiting) of medical device from body DJ, SS, YH 10012578 device expulsion AE OAE:0000871 an injury and procedural complication AE that results in an infection related to medical device DJ, SS, YH 10064687 device related infection AE CTCAE: E11356 HPO: HP_0002719 NCIt: C79705 SIDER: C1619702 OAE:0000872 a coma AE which is induced by the condition that the patient has extremely high levels of sugar in the blood without ketones DJ, SS, YH diabetic hyperglycaemic coma AE WEB: http://www.nlm.nih.gov/medlineplus/ency/article/000304.htm 10012668 diabetic hyperglycemic coma AE OAE:0000873 a respiratory system AE that has an outcome of an abnormal hole in the diaphragm DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/23288807 10012713 diaphragmatic hernia AE HPO: HP_0000776 SIDER: C0019284 OAE:0000874 a paralysis AE that has an outcome of a paralyzed diaphragm DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/19452391 10012725 diaphragmatic paralysis AE OAE:0000875 a diarrhea AE that has an outcome of rectal bleeding and bloody diarrhea DJ, SS, YH diarrhoea haemorrhagic AE WEB: http://www.ncbi.nlm.nih.gov/pubmed/19292138 10012741 diarrhea hemorrhagic AE HPO: HP_0002255 SIDER: C0151594 OAE:0000876 a diarrhea AE that has an outcome of diarrhea is caused by infection DJ, SS, YH diarrhoea infectious AE 10012742 diarrhea infectious AE OAE:0000877 a cardiac disorder AE with an outcome of decline in performance of one or both ventricles of the heart during the time phase of diastole, when heart filling with incoming blood DJ, SS, YH WEB: http://encyclopedia.thefreedictionary.com/diastolic+dysfunction 10052337 diastolic dysfunction AE OAE:0000878 a cardiac ventricular disorder AE that has an outcome of enlargement of a heart chamber that pumps blood away from the heart DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1721391/ 10013012 dilatation ventricular AE OAE:0000879 an adverse event with an outcome of worsening of the disease DJ, SS, YH 10061818 disease progression AE HPO: HP_0004738 SIDER: C0242656 OAE:0000880 a bone disorder AE that has an outcome of dislocation of vertebra DJ, SS, YH 10013183 dislocation of vertebra AE OAE:0000881 a sensory capability AE that results in the senses of time, direction, and recognition of people and places becoming difficult to distinguish DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/disorientation 10013395 disorientation AE HPO: HP_0001289 SIDER: C0233407 OAE:0000882 a hematopoietic system AE with an outcome of a serious disorder in which proteins that control blood clotting become abnormally active DJ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/000573.htm 10013442 disseminated intravascular coagulation AE CTCAE: E10028 HPO: HP_0005521 NCIt: C2992 SIDER: C0012739 OAE:0000883 a behavior and neurological AE that results in a loss of attention DJ, SS, YH 10013496 disturbance in attention AE HPO: HP_0007018 SIDER: C0233414 OAE:0000884 a digestive system AE with an outcome of perforation of small sacs or pockets in the wall of the colon DJ, SS, YH WEB: http://www.webmd.com/digestive-disorders/diverticular-disease 10061820 diverticular perforation AE OAE:0000885 a digestive system AE that has an outcome of infection and inflammation in the small, bulging sacs or pouches of the inner lining of the intestine DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001303/ 10013538 diverticulitis AE HPO: HP_0002253 SIDER: C0012813 OAE:0000886 a hemorrhage AE that has an outcome of bleeding in the intestine due to diverticulitis DJ, SS, YH diverticulitis intestinal haemorrhagic AE WEB: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2780263/ 10013541 diverticulitis intestinal hemorrhagic AE OAE:0000887 an adverse event that has an outcome of a decreased amount of the drug excreted by the body DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/drug+clearance 10049463 drug clearance decreased AE OAE:0000888 an adverse drug event that results in the development of a dependence on the drug DJ, SS, YH 10013663 drug dependence AE HPO: HP_0000722 SIDER: C1510472 OAE:0000889 a skin AE that has an outcome of a range of adverse drugs reactions of the skin, most commonly rashes resembling measles DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/drug+eruption 10013687 drug eruption AE OAE:0000890 a hypersensitivity AE that has an outcome of allergic reactions to certain drugs DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/23192511 10013700 drug hypersensitivity AE HPO: HP_0100326 SIDER: C0013182 OAE:0000891 a drug AE that has an outcome of lower threshold to the normal pharmacologic action of a drug DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/drug+intolerance 10061822 drug intolerance AE OAE:0000892 a headache AE that has an outcome of headaches due to drug withdrawal DJ, SS, YH 10013753 drug withdrawal headache AE OAE:0000893 an adverse event that results in symptoms that occur after the discontinuation of the use of a certain drug DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/withdrawal 10013754 drug withdrawal syndrome AE OAE:0000894 a skin AE that is characterized by epidermis that lacks moisture, has an outcome of fine lines, scaling and itching DJ, SS, YH, MW WEB: http://medical-dictionary.thefreedictionary.com/dry+skin 10013786 dry skin AE CTCAE:E13623 HPO: HP_0000958 NCIt:C74592 SIDER: C0151908 OAE:0000895 a duodenum AE that has an outcome of a peptic ulcer, or a defect in the lining of the stomach or the first part of the small intestine, located in the duodenum DJ, SS, YH peptic ulcer AE WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001255/ 10013836 duodenal ulcer AE CTCAE: E10611 HPO: HP_0002588 NCIt: C26755 SIDER: C0013295 OAE:0000896 a duodenal ulcer AE with an outcome of bleeding in an ulcer, or a defect, in the lining of the stomach or first part of the small intestine called the duodenum DJ, SS, YH duodenal ulcer haemorrhage AE WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001255/ 10013839 duodenal ulcer hemorrhage AE HPO: HP_0002588 SIDER: C0151966 OAE:0000897 a duodenal ulcer AE that has an outcome of perforation, or complete penetration, of an ulcer located in an area of the small intestine called the duodenum DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001255/ 10013849 duodenal ulcer perforation AE HPO: HP_0002588 SIDER: C0740401 OAE:0000898 a speech disorder that results in a motor speech disorder DJ, SS, YH, MW WEB: http://medical-dictionary.thefreedictionary.com/dysarthria 10013887 dysarthria AE CTCAE:E12635 HPO: HP_0001260 NCIt:C79549 SIDER: C0013362 OAE:0000899 a behavioral and neurological AE that results in difficulty reading (mixing up letters) DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/dyslexia 10013932 dyslexia AE HPO: HP_0010522 SIDER: C0476254 OAE:0000900 a speech disorder AE that results in disorders of voice DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/dysphonia 10013952 dysphonia AE HPO: HP_0001618 SIDER: C1527344 OAE:0000901 a dyspnoea AE that has an outcome of shortness of breath during exercise, produces a sensation of not being able to get enough air DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/22760109 10013971 dyspnoea exertional AE HPO: HP_0002875 SIDER: C0231807 OAE:0000902 Dysuria AE is an urinary system AE that results in painful urination JX, DJ, SS, YH urination disorders AE WEB: http://medical-dictionary.thefreedictionary.com/dysuria 排尿困难 10013990 dysuria AE HPO: HP_0100518 SIDER: C0013428 OAE:0000903 a gustatory system AE which has an outcome of abrnormal or disturbed eating habits DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/eating+disorder 10014062 eating disorder AE OAE:0000904 a female reproductive system AE that results in an ectopic pregnancy that occurs along with the use of an IUD DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/ectopic+pregnancy 10067037 ectopic pregnancy with intrauterine device AE OAE:0000905 a skin AE that has an outcome of a long term skin disorder that involves scaly and itchy rashes DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001856/ 10014184 eczema AE HPO: HP_0000964 SIDER: C0013595 OAE:0000906 an abnormal fluid regulation AE that has an outcome of escape of a fluid into a part DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/effusion 10063045 effusion AE OAE:0000907 a male reproductive system AE that has an outcome of a delay of ejaculation DJ, SS, YH 10014325 ejaculation delayed AE HPO: HP_0000022 SIDER: NA OAE:0000908 a left ventricular dysfunction AE that has an outcome of decreased percentage of blood leaving the heart each time it contracts DJ, SS, YH WEB: http://www.mayoclinic.com/health/ejection-fraction/AN00360 10050528 ejection fraction decreased AE CTCAE: E12142 NCIt: C83492 OAE:0000909 a cardiac function test abnormal AE that has an outcome of abnormal electrical activity in the heart DJ, SS, YH, EB WEB: http://www.nlm.nih.gov/medlineplus/ency/article/003868.htm 10014363 electrocardiogram result abnormal AE OAE:0000910 an electrocardiogram result abnormal AE that has an outcome of an abnormal depolarization of the right and left ventricles of the heart that is detected on an electrocardiogram test DJ, SS, YH, EB WEB: http://www.ncbi.nlm.nih.gov/pubmed/23238367 10014378 electrocardiogram qrs complex abnormal AE OAE:0000911 an electrocardiogram result abnormal AE that has an outcome of a prolonged time between the start of the Q wave and the end of the T wave in the heart's electrical cycle; a biomarker for ventricular tachyarrhythmias DJ, SS, YH, EB WEB: http://www.ncbi.nlm.nih.gov/pubmed/23275261 10014387 electrocardiogram qt prolonged AE HPO: HP_0001657 SIDER: C0151878 OAE:0000912 an electrocardiogram result abnormal AE in which the T wave appears increased in amplitude and cresting at a point DJ, SS, YH, EB WEB: http://www.ncbi.nlm.nih.gov/pubmed/23301064; http://www.medaphile.com/medical-dictionary/t-wave-peaked 10014396 electrocardiogram t wave peaked AE OAE:0000913 a homeostasis AE that has an outcome of abnormalities in electrolytes (sodium, potassium, calcium) DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/electrolyte+imbalance 10014418 electrolyte imbalance AE HPO: HP_0003111 SIDER: C0342579 OAE:0000914 a psychiatric disorder AE that results in an abnormal expression of emotions DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/emotional+disorder 10014551 emotional disorder AE HPO: HP_0100851 SIDER: C0233459 OAE:0000915 an inflammation AE that occurs in the inside lining of the heart chambers and heart valves DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002088/ 10014665 endocarditis AE HPO: HP_0100584 SIDER: C0014118 OAE:0000916 a digestive system AE with an outcome of inflammation in the intestine, especially the small intestine DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/enteritis 10014866 enteritis AE HPO: HP_0004387 SIDER: C0014335 OAE:0000917 a digestive system AE that has an outcome of disease in the digestive tract caused by infection DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/enterocolitis 10014893 enterocolitis AE CTCAE: E10627 HPO: HP_0004387 NCIt: C79573 SIDER: C0014356 OAE:0000918 an digestive system AE that has an outcome of an infection by enteric viruses or enterotoxigenic bacterias, usually in the intestines, that presents with diarrhea, abdominal pain, perianal discomfort, incontinence and hemorrhage. DJ, SS, YH WEB: http://www.mdconsult.com/books/page.do?eid=4-u1.0-B978-1-4377-0792-2..50022-5--cesec139&isbn=978-1-4377-0792-2&type=bookPage&from=content&uniqId=376758653-2 10058838 enterocolitis infectious AE OAE:0000919 an eosinophil count abnormal AE that has an outcome of an increased amount of eosinophils, a type of white blood cell that becomes active with allergic diseases and infections DJ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/003649.htm 10014945 eosinophil count increased AE HPO: HP_0001880 SIDER: C2240374 OAE:0000920 a hematopoietic system AE that has an outcome of higher than normal levels of eosinophils, a type of white blood cell DJ, SS, YH WEB: http://www.mayoclinic.com/health/eosinophilia/MY00399 10014950 eosinophilia AE HPO: HP_0001880 SIDER: C0014457 OAE:0000921 a male reproductive system AE that results in the inability to develop/maintain an erection of penis DJ, SS, JX, LW, YH, MW astyphia AE impotence AE WEB: http://en.wikipedia.org/wiki/Erectile_dysfunction 阳痿/勃起功能障碍 10061461 erectile dysfunction AE CTCAE:E13088 HPO: HP_0008652 NCIt:C3133 SIDER: C0242350 OAE:0000922 a skin AE that has an outcome of an infection caused by a Streptococcus bacteria that causes blisters, fever and skin lesion and sores DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001643/ 10015145 erysipelas AE HPO: HP_0001055 SIDER: C0014733 OAE:0000923 a psoriasis AE that has an outcome of psoriasis that affects all sites on the body DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/psoriatic+erythroderma 10015278 erythrodermic psoriasis AE OAE:0000924 a bacterial infection AE with an outcome of invasion by Escherichia coli bacteria, commonly found in the lower intestine and can cause serious food poisoning, but can also be found in various parts of body DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/escherichia+coli 10061126 escherichia infection AE OAE:0000925 a microbiology and serology investigation result abnormal AE that has an outcome of a positive escherichia test DJ, SS, YH, EB WEB: http://medical-dictionary.thefreedictionary.com/Escherichia 10070090 escherichia test positive AE OAE:0000926 an urinary tract infection AE that has an outcome of infection caused by E. coli bacteria DJ, SS, YH WEB: http://www.medicinenet.com/urine_infection/article.htm 10052238 escherichia urinary tract infection AE OAE:0000927 a connective tissue AE that has an outcome of excess perfused, fibrous connective tissue that replaces a fibrin clot in healing wounds. DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/19594571 10063560 excessive granulation tissue AE OAE:0000928 a rash AE that has an outcome of erythema, desquamation, scaling, itching of the skin and loss of hair DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/exfoliative+dermatitis 10064579 exfoliative rash AE OAE:0000929 a congenital abnormality that results in a weakness of the baby's abdominal wall where the umbilical cord joins it. This weakness allows the abdominal contents to protrude outside the abdominal cavity DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/exomphalos 10015677 exomphalos AE HPO: HP_0001539 SIDER: C1306503 OAE:0000930 an injury and procedural complication AE that results in the patient being exposed to a contaminated device DJ, SS, YH 10068515 exposure to contaminated device AE OAE:0000931 a procedural complication AE that results in the patient being exposed to a toxic agent DJ, SS, YH 10053487 exposure to toxic agent AE OAE:0000932 an abscess AE that results in a collection of pus between a person's skull and dura DJ, SS, YH WEB: http://www.meb.uni-bonn.de/dtc/primsurg/docbook/html/x1217.html 10061846 extradural abscess AE OAE:0000933 a paresis AE that results in a partial loss of voluntary movement in their extraocular muscles DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/22824489 10015829 extraocular muscle paresis AE CTCAE: E10367 NCIt: C78286 OAE:0000934 coagulopathy AE results in the impairment of blood to clot causing ecessive or prolonged bleeding. SJ, YH bleeding disorder clotting disorder WEB: http://en.wikipedia.org/wiki/Coagulopathy 10009802 coagulopathy AE OAE:0000935 a hemorrhage AE that has an outcome of hemorrhage occuring in the blood vessels in the eye DJ, SS, YH eye haemorrhage AE subconjunctival haemorrhage AE WEB: http://www.webmd.com/eye-health/bleeding-in-the-eye 10015926 eye hemorrhage AE HPO: HP_0011885 SIDER: C0015402 OAE:0000936 a eye disorder AE that has an outcome of swelling in the tissues around the eyes, called the orbits, caused by fluid buildup DJ, SS, YH perioribtal puffiness AE WEB: http://www.ncbi.nlm.nih.gov/pubmed/21115963 10015967 eye swelling AE OAE:0000937 an eye edema AE that has an outcome of swelling in either or both the lower and upper eyelids, due to fluid buildup or inflammation in the delicate tissues surrounding the eye. DJ, SS, YH eyelid oedema AE WEB: http://www.localhealth.com/article/eyelid-swelling 10015993 eyelid edema AE HPO: HP_0100539 SIDER: C0162285 OAE:0000938 A pregnancy, neonatal and perinatal AE that displays the result of failure to thrive (FTT), which refers to a baby or child that is not developing as well as desired. DJ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/000991.htm WEB: http://www.stanfordchildrens.org/en/topic/default?id=failure-to-thrive-90-P02297 10016165 failure to thrive AE HPO: HP_0001531 SIDER: C0015544 OAE:0000939 a behavior and neurological AE that has an outcome of patient falling DJ, SS, YH 10016173 fall AE CTCAE: E11687 HPO: HP_0002359 NCIt: C50558 SIDER: C0085639 OAE:0000940 a behavior and neurological AE that results in the extreme fear of needles DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/23225704 10068298 fear of needles AE OAE:0000941 a hematopoietic system AE that has an outcome of inadequate blood cell formation by bone marrow accompanied by a fever DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/Bone+marrow+aplasia 10053213 febrile bone marrow aplasia AE OAE:0000942 a fever AE that has an outcome of an infection along/because of a fever DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/febrile 10051998 febrile infection AE OAE:0000943 a neutropenia AE, generally a complication of chemotherapy, that has an outcome of an abnormally low neutrophil granulocyte count, accompanied by fever DJ, SS, YH neutropenic sepsis AE WEB: http://www.ncbi.nlm.nih.gov/pubmed/23303687 10016288 febrile neutropenia AE CTCAE: E10033 HPO: HP_0001875 NCIt: C35665 SIDER: C0746883 OAE:0000944 an injury and procedural complication AE that has an outcome of an complication due to the use of enteral feeding tube DJ, SS, YH enteral feeding AE WEB: http://www.thirdage.com/hc/p/197842/what-is-tube-feeding 10056661 feeding tube complication AE OAE:0000945 a sensory capabilty AE that results in the patient feeling different than normal after a medical intervention such as taking drug DJ, SS, YH 10016322 feeling abnormal AE HPO: HP_0010870 SIDER: C1443060 OAE:0000946 Feeling hot AE is a feeling abnormal AE that a patient feels hot. DJ, SS, YH 10016334 feeling hot AE OAE:0000947 a hypoaesthesia AE that has an outcome of a reduced sense of touch or sensation, or a partial loss of sensitivity to sensory stimuli in the oral area SS, YH hypoaesthesia oral AE WEB: http://en.wikipedia.org/wiki/Hypoesthesia 10057371 hypoesthesia oral AE HPO: HP_0010830 SIDER: C0521592 OAE:0000948 a fistula AE that has an outcome of discharge that occurs as the result of the connection between two body cavities DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed?term=fistula%20discharge%20%5BTI%5D 10067143 fistula discharge AE OAE:0000949 an abnormal fluid regulation AE with an outcome of decrease in ingestion of water or other fluids DJ, SS, YH 10056291 fluid intake reduced AE OAE:0000950 a hematopoietic system AE that has an outcome of too much fluid in the blood, can occur due to increase in total body sodium DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/22827112 10016803 fluid overload AE OAE:0000951 a hyperplasia AE that has an outcome of a benign tumor in the liver DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/focal+nodular+hyperplasia 10052285 focal nodular hyperplasia AE OAE:0000952 a congenital abnormality disorder AE that has an outcome of a decreased heart rate in a fetus DJ, SS, YH foetal heart rate deceleration AE 10058322 fetal heart rate deceleration AE OAE:0000953 a skin AE with the outcome disease involving of one more more hair follicles, commonly displays rash, itching and pustules near the hair follicles DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001826/ 10016936 folliculitis AE OAE:0000954 a respiratory system AE that has an outcome of a decreased volume of air expired from the lungs DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/forced+expiratory+volume 10016987 forced expiratory volume decreased AE CTCAE: E12156 NCIt: C50524 OAE:0000955 a bone disorder AE that has an outcome of fracture located in the arm DJ, SS, YH 10016997 forearm fracture AE OAE:0000956 a bone disorder AE that has an outcome of complete or incomplete break in a bone resulting from the application of excessive force DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/Fractures 10017076 fracture AE CTCAE: E11703 NCIt: C3046 OAE:0000957 a full blood count abnormal AE that has an outcome of a decrease in full blood cell count DJ, SS, YH, EB WEB: http://medical-dictionary.thefreedictionary.com/full+blood+count 10017413 full blood count decreased AE OAE:0000958 a digestive system AE that has an outcome of inflammation in the esophagus due to fungus DJ, SS, YH fungal oesophagitis AE WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002138/ 10049656 fungal esophagitis AE OAE:0000959 a digestive system AE that has an outcome of an abnormal enlargement in the size of the gallbladder DJ, SS, YH 10062693 gallbladder enlargement AE OAE:0000960 a digestive system AE that has an outcome of an abnormal hole in the patient's gallbladder DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/gallbladder+perforation 10017639 gallbladder perforation AE CTCAE: E11208 NCIt: C78309 OAE:0000961 a digestive system AE that has an outcome of an abnormal growth (accumulation of mucous membrane tissue) in the gallbladder DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/19556839 10049704 gallbladder polyp AE OAE:0000962 an arrhythmia AE that results in an abnormal heart sound DJ, SS, YH WEB: http://circ.ahajournals.org/content/20/6/1053.full.pdf 10017648 gallop rhythm present AE OAE:0000963 a liver related investigation result abnormal AE that has an outcome of an abnormal level of gamma-glutamyltransferase (GGT); GGT is involved in the transfer of amino acids across the cellular membrane DJ, SS, YH, EB WEB: http://www.nlm.nih.gov/medlineplus/ency/article/003458.htm 10017688 gamma-glutamyltransferase level abnormal AE OAE:0000964 a gamma-glutamyltransferase level abnormal AE that has an outcome of an increase in gamma-glutamyltransferase enzyme presence in the liver DJ, SS, YH, EB GGT increased WEB: http://www.ncbi.nlm.nih.gov/pubmed/23258530 10017693 10056910 gamma-glutamyltransferase level increased AE CTCAE: E12161 NCIt: C26943 OAE:0000965 a gastric disorder AE that has an outcome of cancer that starts in the stomach DJ, SS, YH 10017758 gastric cancer AE HPO: HP_0006753 SIDER: C0024623 OAE:0000966 a tumor AE that has an outcome of cancer in the stomach DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/stomach+cancer 10061968 gastric neoplasm AE OAE:0000967 a gastric disorder AE that has an outcome of a defect in the lining of the stomach DJ, SS, YH 胃溃疡 WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001255/ 10017822 gastric ulcer AE CTCAE: E10727 HPO: HP_0002592 NCIt: C3388 SIDER: C0038358 OAE:0000968 a gastric disorder AE that has an outcome of inflammation in the lining of the stomach DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002135/ 10017853 gastritis AE CTCAE: E10733 HPO: HP_0005263 NCIt: C26780 SIDER: C0017152 OAE:0000969 a gastritis AE that has an outcome of inflammation in the stomach mucosa DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/2789800 10017860 gastritis atrophic AE OAE:0000970 a gastritis AE that has an outcome of gastric mucosal erosion caused by damage to mucosal defences DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/gastritis 10017865 gastritis erosive AE HPO: HP_0005263 SIDER: C2243088 OAE:0000971 ischemic colitis AE is a gastrointestinal disorder AE that results in injury and inflammation of the large intestine due to inadequate blood supply. SJ, YH WEB: http://en.wikipedia.org/wiki/Ischemic_colitis 10009896 ischemic colitis AE OAE:0000972 a gastroenteritis AE that has an outcome of disease caused by the norovirus DJ, SS, YH WEB: http://www.cdc.gov/ncidod/dvrd/revb/gastro/faq.htm 10068189 gastroenteritis norovirus AE OAE:0000973 a gastroenteritis AE that has an outcome of disease due to radiation DJ, SS, YH 10017912 gastroenteritis radiation AE OAE:0000974 a digestive system AE that results in mucosal damage caused by acid from stomach coming up to the esophagus DJ, SS, YH GERD AE esophageal reflux AE gastrooesophageal reflux disease AE WEB: http://www.ncbi.nlm.nih.gov/pubmed/23301861 10017885 10066874 gastroesophageal reflux disease AE CTCAE: E10739 NCIt: C26781 OAE:0000975 a gastrointestinal disorder AE with an outcome of infection in the digestive tract caused by bacteria, viruses or parasites DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/Gastrointestinal+infection 10017964 gastrointestinal infection AE HPO: HP_0004798 SIDER: C1264613 OAE:0000976 a gastrointestinal disoder AE that has an outcome of an injury in the gastrointestinal area DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/23207874 10061172 gastrointestinal injury AE OAE:0000977 a gastrointestinal disoder AE that has an outcome of premature death in cells of living tissue in the stomach and intestines DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/necrosis 10017982 gastrointestinal necrosis AE OAE:0000978 an adverse event induced by administration of a bupropion drug YH bupropion-induced adverse event OAE:0000979 a gastrointestinal disorder AE that results in a hole in the wall of the esophagus, stomch, small intestine, large bowel, rectum or gallbladder DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001282/ 10018001 gastrointestinal perforation AE HPO: HP_0011024 SIDER: C0151664 OAE:0000980 a tumor AE that has an outcome of a tumor in the gastrointestinal tract, thought to grow from specialized cells found in the tract called interstitial cells of Cajal DJ, SS, YH gastrointestinal stromal tumour AE WEB: http://ghr.nlm.nih.gov/condition/gastrointestinal-stromal-tumor 10051066 gastrointestinal stromal tumor AE HPO: HP_0007378 SIDER: C0238198 OAE:0000981 a gastrointestinal disorder AE that has an outcome of poison affecting the stomach and/or intestinal tracts, often accompanied by abdominal pain, diarrhea and vomiting DJ, SS, YH WEB: http://www.theodora.com/drugs/valcyte_tablets_roche_laboratories.html 10059024 gastrointestinal toxicity AE HPO: HP_0011024 SIDER: C1142499 OAE:0000982 a cytogenetic investigation result abnormal AE that has an outcome of a positive test for gene mutation, deletions and duplications that could indicate large disease risk DJ, SS, YH, EB WEB: https://www.duchenneconnect.org/index.php?option=com_content&view=article&id=346&Itemid=392&lang=en 10063478 gene mutation identification test positive AE OAE:0000983 a systematic adverse event that has an outcome of worsening of physical health DJ, SS, YH 10049438 general physical health deterioration AE OAE:0000984 an edema AE that has an outcome of edema where causes of edema are generalized to the whole body, can cause edema in multiple organs and peripherally DJ, SS, YH generalised oedema AE WEB: http://www.ncbi.nlm.nih.gov/pubmed/16491771 10018092 generalized edema AE HPO: HP_0007430 SIDER: C0151603 OAE:0000985 a skin ulcer AE that results in an ulcer in the genital area usually resulting from an STD DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/23064541 10018180 genital ulceration AE HPO: HP_0003249 SIDER: C0151281 OAE:0000986 an abscess AE that has an outcome of a gum-line of the teeth due to pus-filled sacs DJ, SS, YH WEB: http://www.mdguidelines.com/gingival-abscess 10052359 gingival abscess AE OAE:0000987 a digestive system AE that has an outcome of abnormally enlarged, bulging or protruding gums DJ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/003066.htm 10018291 gingival swelling AE OAE:0000988 a kidney disorder AE that has an outcome of a decreased rate per minute at which the blood passes through the glomeruli or the filters in the kidneys DJ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/007305.htm 10018358 glomerular filtration rate decreased AE HPO: HP_0000083 SIDER: C0853068 OAE:0000989 a digestive system AE that has an outcome of a burning or tingling sensation on the lips, tongue or entire mouth DJ, SS, YH burning tongue AE WEB: http://medical-dictionary.thefreedictionary.com/glossodynia 10018388 glossodynia AE HPO: HP_0000157 SIDER: C0017672 OAE:0000990 a glycosylated hemoglobin level abnormal AE that has an outcome of decreased levels of glycosylated hemoglobin in the blood DJ, SS, YH, EB WEB: http://www.ncbi.nlm.nih.gov/pubmed/23015148 10018482 glycosylated hemoglobin level decreased AE OAE:0000992 an infection AE that results in a graft infection DJ, SS, YH 10056559 graft infection AE OAE:0000993 a sensorimotor painful neuropathy AE which has an outcome of distal sensory neuropathy characterized by damage to sensory and motor nerves distal sensorimotor painful neuropathy OAE:0000994 a microbiology and serology investigation result abnormal AE that has an outcome of detection of gram-positive bacteria DJ, SS, YH, EB WEB: http://medical-dictionary.thefreedictionary.com/gram+stain 10018656 gram stain positive AE OAE:0000995 a nervous system AE that results in a generalized seizure that affects the entire brain DJ, SS, YH, SJ tonic seizure WEB: http://www.mayoclinic.com/health/grand-mal-seizure/DS00222 10018659 grand mal convulsion AE HPO: HP_0002197 SIDER: C0014549 OAE:0000996 a granulocyte count abnormal AE that has an outcome of compromise to the immune system where the number of neutrophil granulocytes, a type of white blood cell, is lower than the normal range of ~1700 per microliter. DJ, SS, YH, EB neutropenia AE 10018681 granulocyte count decreased AE OAE:0000998 a hematopoietic system AE that has an outcome of a marked decrease in number of granulocytes, a type of white blood cell filled with microscopic granules that are little sacs containing enzymes that digest microorganisms DJ, SS, YH WEB: http://www.medterms.com/script/main/art.asp?articlekey=8817 10018687 granulocytopenia AE OAE:0000999 a psorisis AE that has an outcome of psoriasis that appears on the back and extremities of the patients DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/20860740 10018797 guttate psoriasis AE OAE:0001001 a male reproductive system AE that has an outcome of abnormal development of large mammary glands in males resulting in breast enlargement DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/gynecomastia 10018800 gynaecomastia AE HPO: HP_0000771 SIDER: C0018418 OAE:0001003 a vomiting AE that results in the vomiting of blood DJ, SS, YH haematemesis AE WEB: http://medical-dictionary.thefreedictionary.com/hematemesis 10018830 hematemesis AE HPO: HP_0002248 SIDER: C0018926 OAE:0001004 a digestive system AE that has an outcome of the passage of bloody stools DJ, SS, YH haematochezia AE WEB: http://medical-dictionary.thefreedictionary.com/hematochezia 10018836 hematochezia AE HPO: HP_0002573 SIDER: C0018932 OAE:0001005 a hematocrit abnormal AE with an outcome of decreased volume percentage of red blood cells in blood DJ, SS, YH, EB haematocrit decreased AE WEB: http://medical-dictionary.thefreedictionary.com/hematocrit 10018838 hematocrit decreased AE OAE:0001006 an infection AE that has an outcome of infection in a hematoma DJ, SS, YH haematoma infection AE WEB: http://medical-dictionary.thefreedictionary.com/hematoma 10051564 hematoma infection AE OAE:0001007 a hematopoietic system AE that has an outcome of toxins that destroy red blood cells, disrupt blood clotting, and/or cause organ degeneration and generalized tissue damage DJ, SS, YH haematotoxicity AE 10061188 hematotoxicity AE OAE:0001008 A conduction system disorder AE that is a condition in which ventricular contraction is not completely synchronized due to a block in conduction of an electrical impulse to the ventricles; in LBBB, right ventricular endocardial activation begins before, and is often completed before, initiation of left ventricular endocardial activation; benign LBBB is rare; preexisting LBBB in absence of clinical evidence of heart disease is rare; newly acquired LBBB has a 10-fold ↑ in mortality Clinical Generally asymptomatic, or absent or diminished 1st heart sound–HS and reversed splitting of 2nd HS EKG Lead V1–QS or rS; lead V6–late intrinsicoid deflection, monophasic R; lead I–monophasic R Management Pacemaker, if syncope or significant arrhythmias Followup Telemetry PRN. YH, SS LBBB left bundle branch block WEB: http://medical-dictionary.thefreedictionary.com/left+bundle+branch+block 10006580 bundle branch block left AE HPO: HP_0011713 SIDER: C0023211 OAE:0001009 a red blood cell profile abnormal AE that has an outcome of an abnormal count of hemoglobin, or iron-containing oxygen-transport metalloprotein in red blood cells DJ, SS, YH, EB haemoglobin abnormal AE WEB: http://medical-dictionary.thefreedictionary.com/hemoglobin 10018879 hemoglobin level abnormal AE OAE:0001012 a hematopoietic system AE that has an outcome of hemolytic anemia, acute kidney failure and a low platelet count DJ, SS, YH haemolytic uraemic syndrome AE WEB: http://www.ncbi.nlm.nih.gov/pubmed/23307876 10018932 10019515 hemolytic uremic syndrome AE CTCAE: E10043 HPO: HP_0005575 NCIt: C75545 SIDER: C0019061 OAE:0001013 a respiratory system AE that has an outcome of expectoration of blood or blood-stained sputum from the bronchi, larynx, trachea or lungs DJ, SS, YH haemoptysis AE WEB: http://medical-dictionary.thefreedictionary.com/hemoptysis 10018964 hemoptysis AE HPO: HP_0002105 SIDER: C0019079 OAE:0001014 a nervous system AE that has an outcome of accumulation of blood within the cranial vault DJ, SS, YH haemorrhage intracranial AE WEB: http://emedicine.medscape.com/article/1163977-overview 10018985 hemorrhage intracranial AE HPO: HP_0002170 SIDER: C0151699 OAE:0001015 a female reproductive system AE that results in a 'blood cyst' where the walls of ovarian cysts are lined with blood vessels, which when rupture fill the cyst with blood. DJ, SS, YH haemorrhagic ovarian cyst AE 10060781 hemorrhagic ovarian cyst AE OAE:0001018 a digestive system AE that has an outcome of bleeding in hemorrhoids, vascular structures in the anal canal which help with stool control DJ, SS, YH haemorrhoidal haemorrhage AE WEB: http://medical-dictionary.thefreedictionary.com/hemorrhoid 10054787 10060640 hemorrhoidal hemorrhage AE CTCAE: E10767 NCIt: C78337 OAE:0001019 a digestive system AE that has an outcome of painful, swollen veins in the lower portion of the rectum or anus DJ, SS, YH haemorrhoids AE WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001337/ 10019022 10019611 hemorrhoids AE CTCAE: E10773 HPO: HP_0004296 NCIt: C26792 OAE:0001020 a lung disorder AE that has an outcome of a collection of blood in the space between the chest wall and the lung DJ, SS, YH haemothorax AE WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001183/ 10019027 hemothorax AE OAE:0001021 a hair AE that has an outcome of abnormal growth of facial or body hair DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/Hair+growth 10019044 hair growth abnormal AE HPO: HP_0010720 SIDER: C0232409 OAE:0001023 a hemoglobin level abnormal AE with an outcome of decrease in amount of iron-containing oxygen-transport metalloprotein in the red blood cells DJ, SS, YH, EB haemoglobin decreased AE WEB: http://medical-dictionary.thefreedictionary.com/hemoglobin 10018884 hemoglobin level decreased AE OAE:0001024 a liver/biliary system AE that has an outcome of a chronic degenerative disease in which normal liver cells are damaged and then replaced by scar tissue DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/Hepatic+cirrhosis 10019641 hepatic cirrhosis AE HPO: HP_0001394 SIDER: C0023890 OAE:0001025 a lab test abnormal AE that has an outcome of an increase in amount of hepatic enzyme in body, a liver/biliary system AE that has an outcome of elevated levels of liver enzymes, commonly ALT and AST, may indicate inflammation or damage to liver cells DJ, SS, YH elevated liver enzyme AE WEB: http://www.mayoclinic.com/health/elevated-liver-enzymes/MY00508 10060795 hepatic enzyme increased AE HPO: HP_0002910 SIDER: C0235996 OAE:0001026 a liver/biliary system AE that has an outcome of the inability of the liver to perform its normal synthetic and metabolic function DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/liver+failure 10019663 hepatic failure AE CTCAE: E11211 HPO: HP_0001399 NCIt: C26922 SIDER: C0085605 OAE:0001027 a liver/biliary system AE that results in incorrect blood flow to liver DJ, SS, YH WEB: http://archinte.jamanetwork.com/article.aspx?articleid=571358 10019680 hepatic infarction AE OAE:0001029 a liver/biliary system AE with an outcome of a lesion, an abnormality in the tissue caused by disease or trauma, located in the liver DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/21275132 10061998 hepatic lesion AE OAE:0001030 a liver/biliary system AE that has an outcome of death of hepatic parenchyma which may be single cell, or multicell in piecemeal, focal, periacinar, midzonal, periportal or paracentral locations DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/hepatic+necrosis 10019692 hepatic necrosis AE CTCAE: E11221 HPO: HP_0002605 NCIt: C78340 SIDER: C0151798 OAE:0001031 a tumor AE that has an outcome of a malignant tumor in the liver DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/23302476 10019695 hepatic neoplasm AE HPO: HP_0002896 SIDER: C0023903 OAE:0001032 Acanthosis nigricans AE is a skin AE that is a brown to black, poorly defined, velvety hyperpigmentation of the skin. It is usually found in body folds, such as the posterior and lateral folds of the neck, the armpits, groin, navel, forehead, and other areas. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Acanthosis_nigricans 黑棘皮病 10000350 acanthosis nigricans AE OAE:0001033 a hepatitis AE that has an outcome of irritation and swelling of the liver due to infection with the heptitis B virus DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001324/ 10019731 hepatitis B AE HPO: HP_0006562 SIDER: C0019163 OAE:0001034 a hepatitis AE that has an outcome of liver inflammation due to a hepatitis viral infection DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/viral+hepatitis 10019799 hepatitis viral AE CTCAE: E11410 HPO: HP_0006562 NCIt: C35124 SIDER: C0042721 OAE:0001035 a liver/biliary system AE that has an outcome of swelling of the liver DJ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/003275.htm 10019842 hepatomegaly AE HPO: HP_0002240 SIDER: C0019209 OAE:0001036 a liver damage AE that has an outcome of chemically driven liver damage DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/hepatotoxicity 10019851 hepatotoxicity AE OAE:0001038 an inflammation AE that has an outcome of an inflammatory infiltrate around the eccrine sweat gland DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/hidradenitis 10020040 hidradenitis AE OAE:0001039 an immune system disorder AE that has an outcome of abnormal proliferation of histiocytes, a type of immune cell that eats foreign substances DJ, SS, YH histiocytosis haematophagic AE WEB: http://www.medterms.com/script/main/art.asp?articlekey=11478 10048595 histiocytosis hematophagic AE OAE:0001040 a fungal infection AE that results in an infection that occurs from breathing in the spores of the fungus Histoplasma Capsulatum DJ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/001082.htm 10020144 histoplasmosis disseminated AE OAE:0001042 a urinary system AE that has an outcome of distension and dilation of the renal pelvis and calyces, usually caused by the osbtruction of urine flow from the kidney DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/hydronephrosis 10020524 hydronephrosis AE HPO: HP_0000126 SIDER: C0020295 OAE:0001043 a congenital abnormality AE that results in the yellowing of the skin of infants DJ, SS, YH hyperbilirubinaemia neonatal AE WEB: http://medical-dictionary.thefreedictionary.com/neonatal+jaundice 10020580 hyperbilirubinemia neonatal AE OAE:0001044 a blood calcium abnormal AE that has an outcome of an elevated calcium level in the blood, above normal range of 9-10.5 mg/dL YH, MW hypercalcaemia AE WEB: http://medical-dictionary.thefreedictionary.com/hypercalcemia 10020583 10020587 hypercalcemia AE CTCAE: E12270 HPO: HP_0003072 NCIt: C3112 SIDER: C0020437 OAE:0001045 a skin AE that results in excess perspiration DJ, SS, YH, MW WEB: http://medical-dictionary.thefreedictionary.com/hyperhidrosis 10020642 hyperhidrosis AE CTCAE:E13645 HPO: HP_0000975 NCIt:C78345 SIDER: C0020458 OAE:0001046 a blood potassium abnormal AE that has a lab test outcome of an abnormally increased concentration of potassium in blood YH, MW hyperkalaemia AE WEB: http://medical-dictionary.thefreedictionary.com/hyperkalemia 10020646 10020647 hyperkalemia AE CTCAE: E12282 HPO: HP_0002153 NCIt: C37968 SIDER: C0020461 OAE:0001047 toxin-induced cardiomyopathy AE OAE:0001048 cocaine-induced cardiomyopathy AE OAE:0001049 an abnormal fluid regulation AE that has an outcome of an excessive secretion of the parathyroid hormone by the parathyroid gland DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/23267748 10020708 hyperparathyroidism secondary AE HPO: HP_0003106 SIDER: C0020503 OAE:0001050 a paresis AE that shows muscle weakness affecting the lower limbs. JX, YH WEB: http://www.merriam-webster.com/medical/paraparesis 下肢轻瘫 10033885 paraparesis AE OAE:0001051 a systemic hypertension AE that has an outcome of hypertension with systolic blood pressure >180 mm Hg or a diastolic pressure >120 mm, can be further classified as hypertensive urgency or hypertensive emergency depending on end-organ involvement DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/20160537 10020802 hypertensive crisis AE HPO: HP_0000875 SIDER: C0020546 OAE:0001052 a hematopoietic system AE that has an outcome of high blood levels of triglycerides, abundant fatty molecules DJ, SS, YH, MW hypertriglyceridaemia AE WEB: http://medical-dictionary.thefreedictionary.com/hypertriglyceridemia 10020869 10020870 hypertriglyceridemia AE CTCAE: E12299 HPO: HP_0002155 NCIt: C37971 SIDER: C0020557 OAE:0001053 an arthritis AE that has an outcome of uric acid building up in blood and causes joint inflammation DJ, SS, YH, MW gout AE hyperuricaemia AE WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001459/ 10020903 10020907 hyperuricemia AE CTCAE: E12305 HPO: HP_0002149 NCIt: C3961 SIDER: C0740394 OAE:0001054 a blood albumin abnormal AE that shows an abnormally low level of albumin protein in the blood. DJ, SS, YH hypoalbuminaemia AE WEB: http://medical-dictionary.thefreedictionary.com/hypoalbuminemia 10020942 10020943 hypoalbuminemia AE CTCAE: E12310 HPO: HP_0003073 NCIt: C37972 SIDER: C0239981 OAE:0001055 a blood calcium abnormal AE that has an outcome of abnormally low calcium levels, can present with convulsions, arrythmias, tetany and numbness YH, MW hypocalcaemia AE WEB: http://medical-dictionary.thefreedictionary.com/hypocalcemia 低血钙 10020947 10020949 hypocalcemia AE CTCAE: E12316 HPO: HP_0002901 NCIt: C37973 SIDER: C0020598 OAE:0001056 a blood carbon dioxide abnormal AE in which the levels of carbon dioxide in the blood is abnormally low. DJ, SS, YH, MW WEB: https://en.wikipedia.org/wiki/Hypocapnia 10020952 hypocapnia AE UMLS CUI: C0085383 OAE:0001057 a glucose homeostasis AE that results in a abnormally diminished content of glucose in the blood DJ, SS, YH, MW hypoglycaemia AE WEB: http://medical-dictionary.thefreedictionary.com/hypoglycemia 10020993 10021005 hypoglycemia AE CTCAE: E12322 HPO: HP_0005969 NCIt: C3126 SIDER: C0020615 OAE:0001058 a neurological, special senses and psychiatric investigation result abnormal AE that is the abnormal result of the recording of the level of consciousness in a person after a brain injuiry. YH, SJ WEB: http://www.brainline.org/content/2010/10/what-is-the-glasgow-coma-scale.html 10069709 Clinicians use the Galscow coma scale to rate the best eye opening response, the best verbal response, and the best motor response an individual makes. The final GCS score or grade is the sum of these numbers. Glascow coma scale abnormal AE OAE:0001059 a blood magnesium abnormal AE that has an outcome of an abnormal concentration of magnesium in the blood plasma, and may cause nausea, weakness and tremors. YH, MW hypomagnesaemia AE WEB: http://medical-dictionary.thefreedictionary.com/Hypomagnesaemia 10021027 10021028 hypomagnesemia AE CTCAE: E12333 HPO: HP_0002917 NCIt: C37975 SIDER: C0151723 UMLS CUI: C0151723 OAE:0001060 a conduction system disorder AE that refers to the slow conduction of electricity through ventricular walls of the heart. SS IVCD BOOK: Taber's Cyclopedic Medical Dictionary;2005, p1134 WEB: http://connection.ebscohost.com/c/reference-entries/21232773/intraventricular-conduction-delay intraventricular conduction delay AE OAE:0001061 a gustatory system AE with an outcome of reduced food intake DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/hypophagia 10063743 hypophagia AE OAE:0001062 a hematopoietic system AE that has an outcome of abnormally low phosphate levels, can present with muscle dysfunction, white cell dysfunction, pulp chambers and mental status changes DJ, SS, YH, MW hypophosphataemia AE WEB: http://medical-dictionary.thefreedictionary.com/hypophosphatemia 10021058 10021059 hypophosphatemia AE CTCAE: E12344 HPO: HP_0008285 NCIt: C37977 SIDER: C0085682 UMLS CUI: C0085682 OAE:0001063 an endocrine system AE with the outcome of the thyroid gland does not make enough thyroid hormone DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001393/ 10021114 hypothyroidism AE CTCAE: E10334 HPO: HP_0008245 NCIt: C26800 SIDER: C0020676 OAE:0001064 a cardiovascular disorder AE that is characterized by decreased blood plasma volume DJ, SS, YH hypovolaemia AE WEB: http://medical-dictionary.thefreedictionary.com/hypovolemia 10021137 hypovolemia AE HPO: HP_0011106 SIDER: C0546884 OAE:0001066 a cardiovascular disorder AE that has the outcome of severe blood and fluid loss that makes the heart unable to pump enough blood to the body, often leads to organ failure DJ, SS, YH hypovolaemic shock AE WEB: http://www.nlm.nih.gov/medlineplus/ency/article/000167.htm 10021138 hypovolemic shock AE HPO: HP_0011106 SIDER: C0020683 OAE:0001067 a digestive system AE that has an outcome of holes in the ileum of the small intestine DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/ileum 10021305 ileal perforation AE CTCAE: E10795 NCIt: C78355 OAE:0001068 a digestive system AE that has an outcome of a partially or completely blocked bowel DJ, SS, YH intestinal obstruction AE WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001306/ 10021328 ileus AE CTCAE: E10812 HPO: HP_0002595 NCIt: C37979 SIDER: C1258215 OAE:0001069 a digestive system AE that has an outcome of intestinal blockage in the absence of an actual physical obstruction, can be caused by a malfunction in nerves and muscles in the intestine DJ, SS, YH WEB: http://www.localhealth.com/article/paralytic-ileus 10021333 ileus paralytic AE HPO: HP_0002590 SIDER: C0030446 OAE:0001070 A cardiac disorder AE that has an outcome of an abnormal enlargement of the heart YH, SS WEB: http://medical-dictionary.thefreedictionary.com/cardiomegaly added MedDRA term LB 10007632 cardiomegaly AE HPO: HP_0001640 SIDER: C0018800 OAE:0001071 a drug adverse event that has an outcome of decreased levels of immunosuppressant drugs in the patient's body DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/Immunosuppresant 10062014 immunosuppressant drug level decreased AE OAE:0001072 an immune system disorder AE that has an outcome of reduced or absent immune response DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001821/ 10062016 immunosuppression AE OAE:0001073 an injury AE that has an outcome of impairment to the process of restoring a state of soundness to any interupption in the continuity of external surfaces of the body DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/wound+healing 10021519 impaired healing AE HPO: HP_0001058 SIDER: C0151692 OAE:0001074 a pain AE that has an outcome of pain at the site of an implant DJ, SS, YH 10063782 implant site pain AE OAE:0001076 a respiratory system AE that has an outcome of increased thickness of the secretions of the bronchi DJ, SS, YH 10054761 increased viscosity of bronchial secretion AE OAE:0001077 an infection AE that results in infection by a parasite DJ, SS, YH 10021857 infection parasitic AE HPO: HP_0002719 SIDER: C0747256 OAE:0001078 an immune system disorder AE that has an outcome of increased susceptibility to infection DJ, SS, YH 10021866 infection susceptibility increased AE HPO: HP_0002719 SIDER: C0236171 OAE:0001079 an infection AE that has an outcome of an increase in severity of cystic fibrosis in the patient SZ, DJ, SS, YH 10070608 infective pulmonary exacerbation of cystic fibrosis AE OAE:0001081 a immune system AE that results in an allergic reaction to foreign protein, but can also be caused by cytokine release. SZ, DJ, SS, YH WEB: http://www.ons.org/Publications/VJC/media/ons/docs/publications/VJC/vjc-apr10cjon.pdf 10051792 10053483 infusion related reaction AE CTCAE: E11127 NCIt: C78361 OAE:0001082 an extravasation AE that has an outcome of leaking of pharmacologic or biological substance from infusion site into surrounding tissue. Symptoms include induration, erythema, swelling, burning sensation and pain SZ, DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/extravasation 10064774 infusion site extravasation AE CTCAE: E11133 NCIt: C78362 OAE:0001083 Infection AE that results in the patient gets infected at the sight of an infusion SZ, DJ, SS, YH 10054997 infusion site infection AE OAE:0001084 Rash AE that results in patient has a rash at the site of infusion SZ, DJ, SS, YH 10059830 infusion site rash AE OAE:0001085 an allergy AE that has an outcome of infusion site allergic reaction SZ, DJ, SS, YH 10054996 infusion site reaction AE OAE:0001086 a nail disorder AE that results in a nail growing into the sides of the paronychium SZ, DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/ingrowing+nail 10022013 ingrowing nail AE OAE:0001087 a skin discoloration AE that results in a discoloration of the skin at the site of injection of the drug SZ, DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/macule 10067255 injection-site macule AE OAE:0001088 Inflammation AE that results in swelling of the veins at the site of drug injection SZ, DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/phlebitis 10022090 injection-site phlebitis AE OAE:0001090 an adverse event that results in the patient developing a scab at the site of drug injection SZ, DJ, SS, YH 10066210 injection-site scab AE OAE:0001091 a pain AE that results in pain at the site of instillation SZ, DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/instillation 10022459 instillation site pain AE OAE:0001092 a tremor AE that results in the patient undergoing a broad, coarse, low frequency muscle tremor SZ, DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/23094990 10022520 intention tremor AE HPO: HP_0002345 SIDER: C0234376 OAE:0001093 an adverse drug event that results in the intentional use of a drug in the wrong way (recreationally etc) SZ, DJ, SS, YH 10065679 intentional drug misuse AE OAE:0001095 a lung disorder AE that has an outcome of a disease affecting the interstitium, the tissue and space around the air sacs of the lungs SZ, DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/23289473 10022611 interstitial lung disease AE HPO: HP_0006530 SIDER: C0206062 OAE:0001096 a bone disorder AE that has an outcome of the protrusion of the nucleus pulposus or anulus fibrosus of the intervertebral disk, which may impinge on nerve roots SZ, DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/herniation+of+intervertebral+disk 10050296 intervertebral disc protrusion AE OAE:0001097 an ischaemia AE that has an outcome of blocked or narrowed blood vessels to the small or large intestines, can cause pain and permanent damage to the intestines SZ, DJ, SS, YH intestinal ischaemia AE 10022680 intestinal ischemia AE OAE:0001098 a gastrointestinal disorder AE that has an outcome of a blockage that keeps substance from passing through the intestine, may be caused by fibrous bands of tissue in the abdomen, inflamed/infected pouches in the intestine, or hernias and tumors SZ, DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001306/ 10022687 intestinal obstruction AE HPO: HP_0005250 SIDER: C0021843 OAE:0001099 a gastrointestinal disorder AE that has an outcome of perforation, or complete penetration, of the wall of the intestines SZ, DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001282/ 10022694 intestinal perforation AE OAE:0001100 a thrombosis AE that has an outcome of thrombi in the ventricles SZ, DJ, SS, YH WEB: http://www.cvimaging.northwestern.edu/for-physicians/cardiovascular-mri/indications/intracardiac-thrombus/ 10048620 intracardiac thrombus AE OAE:0001101 a nervous system AE that has an outcome of a rise in the pressure inside the skull that can result from or cause brain injury SZ, DJ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/000793.htm 10022773 intracranial pressure increased AE HPO: HP_0002516 SIDER: C0151740 OAE:0001102 a neurological, special senses and psychiatric investigation result abnormal AE that results in an abnormal intraocular pressure in the eye SZ, DJ, SS, YH, EB 10060951 intraocular pressure test result abnormal AE OAE:0001103 a gastrointestinal disorder AE that results in part of the intestine invaginating itself into another part of the intestine SZ, DJ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/000958.htm 10022863 According to the Vaccine Adverse Event Reporting System (VAERS), 'intussusception'; is an adverse event that was mentioned in 143 VAERS reports (0.1%) during1991-2001 (Reference: PMID: 12825543). intussusception AE HPO: HP_0002576 MP: MP_0003294 SIDER: C0021933 OAE:0001104 an anemia AE that has an outcome of fewer healthy red blood cells because the body does not have enough iron SZ, DJ, SS, YH iron deficiency anaemia AE WEB: http://www.nlm.nih.gov/medlineplus/ency/article/000584.htm 10022972 iron deficiency anemia AE HPO: HP_0001891 SIDER: C0162316 OAE:0001105 Behavior and Neurological AE that results in the patient being easily annoyed/irritated SZ, DJ, SS, YH feverish (subjective) AE 10022998 irritability AE CTCAE: E11144 HPO: HP_0000737 NCIt: C50623 SIDER: C0022107 OAE:0001106 a jaundice AE that results in an abnormal bile flow in the liver SZ, DJ, SS, YH cholestasis jaundice AE WEB: http://medical-dictionary.thefreedictionary.com/cholestatic+jaundice 10023129 jaundice cholestatic AE HPO: HP_0006575 SIDER: C0022354 OAE:0001107 a bone disorder AE that has an outcome of disease in the set of bones that hold the teeth SZ, DJ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/jawinjuriesanddisorders.html 10061257 jaw disorder AE OAE:0001108 a bone disorder AE that has an outcome of break in the jaw bone SZ, DJ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/000019.htm 10023149 jaw fracture AE OAE:0001109 a thrombosis AE with an outcome of formation of a blood clot located in the internal jugular vein SZ, DJ, SS, YH 10023237 jugular vein thrombosis AE OAE:0001110 a bacterial infection AE with an outcome of invasion by Klebsiella pneumonia, a form of bacterial pneumonia SZ, DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/17307769 10061259 klebsiella infection AE HPO: HP_0002742 SIDER: C0022729 OAE:0001111 a bone disorder a that results in the knee becoming deformed SZ, DJ, SS, YH 10062061 knee deformity AE OAE:0001112 a speech disorder AE that results in the inability of a patient to speak properly SZ, DJ, SS, YH 10023615 lack of spontaneous speech AE OAE:0001113 a congetical abnormality AE that results in the patient's baby being larger than it should be at the time in their pregnancy SZ, DJ, SS, YH 10023789 large for dates baby AE OAE:0001114 an immune system disorder AE that has an outcome of an increase in the number or proportion of natural killer cells, or cytotoxic lymphocytes critical to the innate immune system SZ, DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/10761014 10023791 large granular lymphocytosis AE OAE:0001115 a gastrointestinal disorder AE that has an outcome of an ulcer in the large intestine SZ, DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/Intestinal+ulcer 10023799 large intestinal ulcer AE OAE:0001116 a digestive system AE that has an outcome of perforation, or complete penetration, of the walls of the large intestine SZ, DJ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/000235.htm 10023804 large intestine perforation AE HPO: HP_0002250 SIDER: NA OAE:0001117 an immunology and allergy investigation result abnormal that results in LE cells (neutrophil or macrophage that has phagocytized the denatured nuclear material of another cell) being detected SZ, DJ, SS, YH, EB WEB: http://medical-dictionary.thefreedictionary.com/LE+cell 10024062 le cells present AE OAE:0001118 a dilatation atrial AE that results in the left atrium of the heart becoming enlarged SZ, DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3096293/ 10067286 left atrial dilatation AE OAE:0001119 a cardiac ventricular disorder AE that has an outcome of inability of the left ventricle to pump blood, may lead to heart failure SZ, DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1766527/ 10049694 left ventricular dysfunction AE CTCAE: E10130 NCIt: C64251 OAE:0001120 a left ventricular dysfunction AE that has an outcome of congestive heart failure marked by pulmonary congestion and edema, the left ventricle fals to contract forcefully enough to maintain normal cardiac output and peripheral perfusion SZ, DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/left+ventricular+failure 10024119 left ventricular failure AE HPO: HP_0001635 SIDER: C0023212 OAE:0001121 a left ventricular dysfunction disorder AE that has an outcome of the thickening of the myocardium of the left ventricle of the heart SZ, DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/18030317 10049773 left ventricular hypertrophy AE OAE:0001122 a hematopoietic system AE that has an outcome of cancer of the white blood cells characterized by return of symptoms after remission SZ, DJ, SS, YH leukaemia recurrent AE WEB: http://www.yourcancertoday.com/Cancers/Leukemia-Acute-Myeloid-Adult/53 10062489 leukemia recurrent AE OAE:0001123 a nervous system AE that has an outcome of cancerous white blood cells infiltrating the brain SZ, DJ, SS, YH leukaemic infiltration brain AE WEB: http://www.ncbi.nlm.nih.gov/pubmed/1454121 10064987 leukemic infiltration brain AE OAE:0001124 Immune system disorder AE that results in an increase in white blood cell count as a result of stress or infection SZ, DJ, SS, YH leukaemoid reaction AE WEB: http://www.nlm.nih.gov/medlineplus/ency/article/000575.htm 10024328 leukemoid reaction AE HPO: HP_0001909 SIDER: C0023501 OAE:0001126 an vasculitis AE that has an outcome of fragmented cells, and debris in the blood vessels. May develop skin lesions, accompanied by arthralgia and fever SZ, DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/leukocytoclastic+vasculitis 白细胞破碎性血管炎 10024377 leukocytoclastic vasculitis AE HPO: HP_0011944 SIDER: C2973529 OAE:0001127 Urinary system AE that results in white blood cells in the urine SZ, DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/leukocyturia 10050791 leukocyturia AE OAE:0001128 an encephalopathy AE that has an outcome of brain white matter disease SZ, DJ, SS, YH, MW WEB: http://medical-dictionary.thefreedictionary.com/leukoencephalopathy 10024382 leukoencephalopathy AE CTCAE:E12712 HPO: HP_0002352 NCIt:C27059 SIDER: C0270612 OAE:0001129 a hematopoietic system AE that has an outcome of a lower than normal number of leukocytes, or nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue SZ, DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2154209/ 10024384 leukopenia AE HPO: HP_0001882 SIDER: C0023530 OAE:0001130 a psychiatric disorder AE that results in a disorder in the patient's desire for sexual interaction SZ, DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2695750/ 10061221 libido disorder AE OAE:0001131 a skin AE that has an outcome of an itchy rash on the skin or in the mouth SZ, DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001870/ 10024429 lichen planus AE OAE:0001132 a skin erosion AE that results in the deterioration of the lip skin SZ, DJ, SS, YH 10051992 lip erosion AE OAE:0001133 a digestive system AE that has an outcome of an excess of lipase, a pancreatic enzyme, may indicate a problem related to pancreas SZ, DJ, SS, YH hyperlipasemia AE WEB: http://www.ncbi.nlm.nih.gov/pubmed/15653991 10024574 lipase increased AE CTCAE: E12185 NCIt: C78435 OAE:0001135 Liver/biliary system AE that results in the disease of the liver SZ, DJ, SS, YH liver disorder WEB: http://www.nlm.nih.gov/medlineplus/liverdiseases.html 10024670 liver AE HPO: HP_0006706 SIDER: C0023895 OAE:0001136 a localized edema AE that shows the outcome of swelling. SZ, DJ, SS, YH 10024770 local swelling AE OAE:0001137 an infection AE located in a certain area SZ, DJ, SS, YH localised infection AE 10024774 localized infection AE HPO: HP_0002719 SIDER: C0016397 OAE:0001138 Abnormal fluid regulation AE that results in a collection of fluid in the intraabdominal area SZ, DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/intra-abdominal 10066768 localised intraabdominal fluid collection AE OAE:0001139 an edema AE occuring in a specific region SZ, DJ, SS, YH localised edema AE localised oedema AE WEB: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1115975/ 10048961 10062466 localized edema AE CTCAE: E11148 HPO: HP_0000969 NCIt: C78437 SIDER: C0013609 OAE:0001140 a movement disorder AE that has an outcome of loss of the sense of the relative position of neighbouring parts of the body and strength of effort being employed in movement SZ, DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/8294975 10057332 loss of proprioception AE OAE:0001141 a gastrointestinal hemorrhage AE that has an outcome of bleeding in the lower gastrointestinal tract SZ, DJ, SS, YH lower gastrointestinal haemorrhage AE WEB: http://www.nlm.nih.gov/medlineplus/ency/article/003133.htm 10050953 lower gastrointestinal hemorrhage AE HPO: HP_0002239 SIDER: C0024050 OAE:0001142 an infection AE that has an outcome of infection in the lower respiratory tract, includes pneumonea as well as lung abscess and acute bronchitis SZ, DJ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/books/NBK8142/ 10024968 lower respiratory tract infection AE HPO: HP_0002783 SIDER: C0149725 OAE:0001143 a lung disorder AE that has an outcome of liquid filling a region of lung tissue, marked by induration of a normally aerated lung SZ, DJ, SS, YH pulmonary consolidation AE WEB: http://medical-dictionary.thefreedictionary.com/consolidation 10025080 lung consolidation AE OAE:0001144 an infection AE that has an outcome of infection in the lungs SZ, DJ, SS, YH WEB: http://www.livestrong.com/lung-infection/ 10061229 lung infection AE CTCAE: E11444 HPO: HP_0002783 NCIt: C26873 SIDER: C0876973 OAE:0001145 a lung disorder AE that has an outcome of an abnormal presence of granulomas, fluid, inflammatory exudates or cells in the lung tissue SZ, DJ, SS, YH WEB: http://www.blurtit.com/q840550.html 10025102 lung infiltration AE HPO: HP_0005828 SIDER: C0235896 OAE:0001146 a tumor AE that has an outcome of a malignant tumor in the lung SZ, DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/Lung+neoplasm 10062042 lung neoplasm AE HPO: HP_0100526 SIDER: C0024121 OAE:0001147 an immune system disorder AE that has an outcome of lymphadenopathy, which is a term meaning "disease of the lymph nodes" . It is generally a disease or inflammation of the lymph nodes, could be due to infection, auto-immune disease or malignancy SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/lymphadenopathy 10025197 lymphadenopathy AE HPO: HP_0002716 SIDER: C0497156 OAE:0001148 an inflammation AE occuring in the lymph vessels secondary to a malignancy SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/8930034 10053132 lymphangiosis carcinomatosa AE OAE:0001149 a lymphocyte count abnormal AE that has an outcome of a decreased amount of lymphocytes in the blood, a type of white blood cell in the immune system SZ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/003657.htm 10025256 lymphocyte count decreased AE CTCAE: E12190 NCIt: C26823 OAE:0001150 a lymphocyte percentage abnormal AE that results in an increase in the levels of lymphocytes in the blood SZ, SS, YH, EB WEB: http://www.nlm.nih.gov/medlineplus/ency/article/003657.htm 10052232 lymphocyte percentage increased AE OAE:0001151 an immune system disorder AE that results in lymphocytes being infiltrated by harmful substances SZ, SS, YH WEB: http://emedicine.medscape.com/article/1098654-overview 10062049 lymphocytic infiltration AE OAE:0001152 an immune system disorder AE that has an outcome of an increase in the number or proportion of lymphocytes in the blood SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/lymphocytosis 10025280 lymphocytosis AE HPO: HP_0012141 SIDER: C0024282 OAE:0001153 an edema AE that has an outcome of localized fluid retention and tissue swelling caused by a compromised lymphatic system SZ, SS, YH WEB: Primary Source: http://emedicine.medscape.com/article/1087313-overview Secondary Source: http://www.ncbi.nlm.nih.gov/pubmed/23073712 10025282 lymphoedema AE HPO: HP_0001004 SIDER: C0024236 OAE:0001154 a hematopoietic system AE that has an outcome of reduction in the number of lymphocytes in the blood SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/lymphopenia 10025327 lymphopenia AE HPO: HP_0001888 SIDER: C0024312 OAE:0001155 a eye disorder AE that has an outcome of cell death in the macula of the eye, destroying central vision SZ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/maculardegeneration.html 10025409 macular degeneration AE HPO: HP_0007673 SIDER: C0024437 OAE:0001156 a male reproductive system disorder AE that results in the inability of the male to achieve an orgasm despite lengthy sexual contact SZ, SS, YH WEB: http://www.minddisorders.com/Kau-Nu/Male-orgasmic-disorder.html#b 10025513 male orgasmic disorder AE OAE:0001157 a tumor AE that has an outcome of growth or proliferation of an abnormal mass of tissue SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/19824467 10061309 malignant neoplasm progression AE OAE:0001158 an respiratory system AE that has an outcome of abnormal amount of fluid collecting between the layers of tissue lining the outside of the lung and wall of chest cavity, caused by cancer SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/11529302 10026673 malignant pleural effusion AE OAE:0001161 an arterial disorder AE that resuts in arteries that supply blood to heart muscle become hardened and narrowed. YH, SS coronary artery disese AE WEB: http://www.nlm.nih.gov/medlineplus/coronaryarterydisease.html 10011078 10011082 coronary artery disorder AE OAE:0001162 a hematopoietic system AE that has an outcome of bone marrow that contains an excess of blood cells SZ, SS, YH WEB: http://www.mayoclinic.com/health/aplastic-anemia/DS00322/DSECTION=causes 10026851 marrow hyperplasia AE OAE:0001163 a perinatal AE that results in the drugs being taken by the mother affecting unborn fetus in mother SZ, SS, YH maternal drugs affecting foetus AE 10026923 maternal drugs affecting fetus AE OAE:0001164 an adverse event that results in a problem in the mediastinum of the patient (undelineated group of structures in the thorax surrounded by loose connective tissue) SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/Mediastinal+diseases 10061280 mediastinal disorder AE HPO: HP_0000765 SIDER: C0025061 OAE:0001165 a digestive system AE that has an outcome of abnormal dilation of the colon, often accompanied by paralysis of the peristaltic movements of the bowel SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/megacolon 10027110 megacolon AE HPO: HP_0002251 SIDER: C0025160 OAE:0001166 Abnormal defecation AE that results in black feces associated with gastrointestinal hemorrhage SZ, SS, YH melaena AE WEB: http://www.nlm.nih.gov/medlineplus/ency/article/003130.htm 10027141 melena AE HPO: HP_0002249 SIDER: C0025222 OAE:0001167 Behavior and Neurological AE that results in the loss of memory SZ, SS, YH, MW WEB: http://medical-dictionary.thefreedictionary.com/impaired+memory 10027175 memory impairment AE CTCAE:E12718 HPO: HP_0002354 NCIt:C78444 SIDER: C0233794 OAE:0001168 a brain inflammation AE that results in the layers lining the brain becoming inflamed, not due to pygonenic bacteria SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/aseptic+meningitis 10027201 meningitis aseptic AE HPO: HP_0001287 SIDER: C0025290 OAE:0001169 Hematuria AE that results in excessive uterine bleeding occurs irregularly and more frequently than normal SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/menometrorrhagia 10027295 menometrorrhagia AE HPO: HP_0100608 SIDER: C0232943 OAE:0001170 Female Reproductive System AE that results in abnormally heavy and prolonged menstrual period SZ, SS, YH, MW WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0014910/ 10027313 menorrhagia AE CTCAE:E13132 HPO: HP_0000132 NCIt:C26829 SIDER: C0025323 OAE:0001171 a psychiatric disorder AE that has an outcome of changes in mental status SZ, SS, YH, Izabela Birsanescu WEB: http://www.medicinenet.com/altered_mental_status/symptoms.htm 10048294 A mental status change does not have to be a disorder or even an adverse event. It can be a good change, from a disorder status to a normal recovered status. mental status changes AE OAE:0001172 a metabolism, endocrine, and exocrine system AE that has an outcome of abnormal chemical reactions in the body that disrupts a metabolic process SZ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html 10058097 metabolic disorder AE OAE:0001173 A cardiac disorder AE that has an outcome of enlargement of the heart YH, SS atrial dilatation, atrial enlargement 10013002 dilatation atrial AE OAE:0001174 an abdominal AE that shows the spreading of the cancer cells to the abdominal cavity of the patient SZ, SS, YH WEB: Primary Source: http://www.nlm.nih.gov/medlineplus/ency/article/002260.htm Secondary Source: http://www.ncbi.nlm.nih.gov/pubmed/19373966 10027450 metastasis to abdominal cavity AE OAE:0001175 a tumor AE that has an outcome of cancerous cells spreading to the bone from elsewhere SZ, SS, YH 10027452 metastasis to bone AE OAE:0001176 a tumor AE that results in cancerous cells spreading from a primary tumor to the central nervous system SZ, SS, YH WEB: http://theoncologist.alphamedpress.org/content/8/5/398.long, http://www.ncbi.nlm.nih.gov/pubmed/19373966 10059282 metastasis to central nervous system AE OAE:0001177 a tumor AE that results in cancerous cells spreading to the liver organ SZ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/000277.htm 10027457 metastasis to liver AE OAE:0001178 a tumor AE that results in cancerous cells spreading to the lung SZ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/000097.htm 10027458 metastasis to lung AE OAE:0001179 a tumor AE that has an outcome cancerous cells spreaing from primary tumor to the thin layers of tissue that protect the brain and spinal cord, may experience increased intracranial pressure SZ, SS, YH meningeal metastasis AE WEB: 1. http://theoncologist.alphamedpress.org/content/1/1/56.full 2. http://www.cancer.gov/dictionary?cdrid=45782 10051696 metastasis to meninges AE OAE:0001180 a tumor AE that results in cancerous cells spreading from primary tumor to the lining of the abdominal cavity or the coelom. SZ, SS, YH WEB: Primary Source: http://medical-dictionary.thefreedictionary.com/peritoneum Secondary Source: http://www.ncbi.nlm.nih.gov/pubmed?term=metastasis%20to%20peritoneum%20%5BTI%5D 10051676 metastasis to peritoneum AE OAE:0001181 a tumor AE that results in a disease spreading to the pleural cavity due to cancerous activities SZ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/pleuraldisorders.html 10027463 metastasis to pleura AE OAE:0001183 a tumor AE that results in cancerous cells spreading to the spine SZ, SS, YH WEB: http://emedicine.medscape.com/article/1157987-overview 10027468 metastasis to spine AE OAE:0001184 a tumor AE with an outcome of spreading of disease from one organ to another non-adjacent organ or part SZ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/002260.htm 10062194 metastasis AE OAE:0001185 a tumor AE with an outcome of spreading of cancerous cells from abnormal mass of tissue SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/20121607 10061289 metastatic neoplasm AE OAE:0001186 Urinary System AE that is characterized by uterine bleeding at irregular intervals SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/metrorrhagia 10027514 metrorrhagia AE HPO: HP_0100608 SIDER: C0025874 OAE:0001187 Cardiovascular disorder AE that results in a fragmentation of red blood cells resulting from the narrowing of small blood vessels SZ, SS, YH microangiopathic haemolytic anaemia AE WEB: http://medical-dictionary.thefreedictionary.com/microangiopathic+hemolytic+anemia 10027527 microangiopathic hemolytic anemia AE HPO: HP_0001937 SIDER: C0221021 OAE:0001188 a cardiac valve disease AE that is characterized by the inability of the heart's mitral valve to close tightly, allowing blood to flow backward in the heart SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/Mitral+Valve+Insufficiency 10027727 mitral valve incompetence AE HPO: HP_0001653 SIDER: C0026266 OAE:0001189 a digestive system AE that has an outcome of bleeding from blood vessels located in the mouth SZ, SS, YH mouth haemorrhage AE WEB: http://sideeffects.embl.de/se/C0029163/ 10028024 mouth hemorrhage AE HPO: HP_0000167 SIDER: C0029163 OAE:0001190 a digestive system AE that has an outcome of sores or open lesions in the mouth SZ, SS, YH aphthous stomatitis AE canker sore AE WEB: http://www.nlm.nih.gov/medlineplus/ency/article/001448.htm 10028034 mouth ulceration AE HPO: HP_0000155 SIDER: C0149745 OAE:0001191 Multiple Sclerosis AE that is characterized by a relapse of Multiple Sclerosis SZ, SS, YH WEB: Primary Source: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001747/ Secondary Source: http://www.ncbi.nlm.nih.gov/pubmed/22980532 10048393 multiple sclerosis relapse AE OAE:0001192 a muscle contraction AE that has an outcome of painful sensations, associated with muscle fatigue and low sodium/potassium SZ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/musclecramps.html 10028294 muscle cramp AE OAE:0001193 a muscle enzyme level abnormal AE that results in an increased level of muscle enzyme SZ, SS, YH 10057945 muscle enzyme level increased AE OAE:0001194 a muscle AE that results in the musculoskeletal system being weakened at locomotion is hampered SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002172/ 10028356 muscular dystrophy AE OAE:0001195 a pain AE located in musculoskeletal structures of the chest wall, atypical or noncardiac chest pain SZ, SS, YH WEB: http://www.uptodate.com/contents/major-causes-of-musculoskeletal-chest-pain?source=see_link 10050819 musculoskeletal chest pain AE HPO: HP_0006649 SIDER: C0476280 OAE:0001196 Bacterial infection AE that results in the patient being infected with the Mycoplasma bacteria SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/15142464 10061300 mycoplasma infection AE OAE:0001198 a hematopoietic system AE that has an outcome of ineffective production of the myeloid class of blood cells SZ, SS, YH, MW WEB: http://www.nlm.nih.gov/medlineplus/myelodysplasticsyndromes.html 10028533 myelodysplastic syndrome AE CTCAE:E12552 HPO: HP_0006730 NCIt:C3247 SIDER: C0026986 OAE:0001199 a hematopoietic system AE that has an outcome of bone marrow being replaced by scar tissue SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001558/ 10028537 myelofibrosis AE HPO: HP_0011974 SIDER: C0026987 OAE:0001200 a cardiac disorder AE that has an outcome of an imbalance between myocardial oxygen supply and demand SZ, SS, YH myocardial ischaemia AE WEB: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1768241/ 10028600 myocardial ischemia AE HPO: HP_0001637 SIDER: C0151744 OAE:0001201 an inflammation AE that has an outcome of inflammation of the heart muscle SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001204/ 10028606 myocarditis AE CTCAE: E10157 NCIt: C34831 OAE:0001202 a bone disorder AE, most commonly fungal infection, that is characterized by discoloration, painful swelling, pits, lesions and brown bands SZ, SS, YH WEB: http://www.umm.edu/altmed/articles/nail-disorders-000116.htm 10028694 nail disorder AE HPO: HP_0001597 SIDER: C0027339 OAE:0001203 a nail AE around the nail area, tends to be fungal SZ, SS, YH WEB: http://www.emedicinehealth.com/paronychia_nail_infection/article_em.htm 10061304 nail infection AE HPO: HP_0008396 SIDER: C0343026 OAE:0001204 Cell death AE that results in necrosis occurring due to a local deprivation of blood SZ, SS, YH necrosis ischaemic AE WEB: http://medical-dictionary.thefreedictionary.com/ischemic+necrosis 10028862 necrosis ischemic AE OAE:0001205 a progressive tumor AE that has an outcome of an abnormal mass of cells that metastasizes SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/malignant+neoplasm 10028997 neoplasm malignant AE HPO: HP_0002664 SIDER: C0006826 OAE:0001206 an tumor AE that has an outcome of growth of the neoplasm, an abnormal mass of tissue in the body SZ, SS, YH WEB: Primary Source: http://medical-dictionary.thefreedictionary.com/neoplasm Secondary Source: http://www.ncbi.nlm.nih.gov/pubmed/23263846 10061309 neoplasm progression AE OAE:0001207 a tumor AE that has an outcome of microscopic cells of the original neoplasm escaping therapeutic intervention and later becoming clinically visible at the original site SZ, SS, YH 10061864 neoplasm recurrence AE OAE:0001208 Kidney disorder AE that results in an increased amount of calcium deposits in the renal parenchyma SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001522/ 10029146 nephrocalcinosis AE HPO: HP_0000121 SIDER: C0027709 OAE:0001209 a kidney disorder AE that has an outcome of a group of symptoms that include protein in the urine, low blood protein levels, high cholesterol levels, high triglyceride levels and swelling SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001520/ 10029164 nephrotic syndrome AE HPO: HP_0000100 SIDER: C0027726 OAE:0001210 a neuropathy AE that has an outcome of direct pressure on a single nerve, can cause pain, tingling and muscle weakness SZ, SS, YH WEB: http://nerve.wustl.edu/nd_compression.php 10029174 nerve compression AE OAE:0001211 Nervous System AE that results in pressure on a root nerve SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/6719259 10061866 nerve root compression AE OAE:0001212 Nervous system AE that results in a lesion occurring on a nerve root SZ, SS, YH 10029188 nerve root lesion AE OAE:0001213 A nervous system AE that has an outcome of inability of maintaining neurological functions. SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/decompensation 10068357 neurological decompensation AE OAE:0001214 Tumor AE that results in a tumor growing on nerve tissue SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/neuroma 10029308 neuroma AE HPO: HP_0009588 SIDER: C0027858 OAE:0001215 a nervous system AE that alters the normal activity of the nervous system due to exposure to neurotoxins (which can be natural or artificial toxic substances), and causes damage to nervous tissue SZ, SS, YH, QL toxic neuropathy AE WEB: http://en.wikipedia.org/wiki/Neurotoxicity 10029350 10067722 neurotoxicity AE OAE:0001216 an immunolgy and allergy investigation result abnormal AE that is chracterized by neutralising antibodies detected in the blood SZ, SS, YH, EB neutralising antibodies positive AE WEB: http://medical-dictionary.thefreedictionary.com/neutralizing+antibody 10064980 neutralizing antibodies positive AE OAE:0001217 a neutropenia AE that compromises the immune system where the number of neutrophil granulocytes, a type of white blood cell, is abnormally low. A neutropenia makes body vulnerable to bacterial and fungal infections. SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/neutropenia 10029354 neutropenia AE HPO: HP_0001875 SIDER: C0027947 OAE:0001218 a neutropenia AE that results in an abnormal number of neutrophils in a newborn infant SZ, SS, YH WEB: http://www.thefreedictionary.com/neonatal, http://medical-dictionary.thefreedictionary.com/neonatal+neutropenia,+alloimmune 10029358 neutropenia neonatal AE OAE:0001219 a gastrointestinal Inflammation AE that results in the cecum, part of the large intestine, being inflamed SZ, SS, YH WEB: http://emedicine.medscape.com/article/183791-overview 10062959 neutropenic colitis AE HPO: HP_0002583 SIDER: C0400823 OAE:0001220 a sepsis AE caused by neutropenia or an abnormally low neutrophil count SZ, SS, YH WEB: http://guidance.nice.org.uk/CG151 10049151 neutropenic sepsis AE OAE:0001221 a white blood cell profile abnormal AE that results in an abnormal number of neutrophil granulocytes, a type of white blood cell (outside the normal range of ~1700 per microliter) SZ, SS, YH, EB WEB: http://www.medterms.com/script/main/art.asp?articlekey=20030 10061313 neutrophil count abnormal AE OAE:0001222 a neutrophil count abnormal AE that has an outcome of decreased neutrophil count SZ, SS, YH, EB neutropenia AE WEB: http://www.mayoclinic.com/health/neutropenia/MY00110 10029366 neutrophil count decreased AE CTCAE: E12198 HPO: HP_0011991 NCIt: C80520 SIDER: NA OAE:0001223 a neutrophil percentage abnormal AE that has an outcome of increase in percentage of neutrophils, a type of white blood cell SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/neutrophil 10052224 neutrophil percentage increased AE OAE:0001224 a hyperplasia AE that has an outcome of liver/biliary system cell overproduction, associated with portal hypertension SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3070012/ 10051081 nodular regenerative hyperplasia AE OAE:0001225 a lung disorder AE that has an outcome of adenocarcinomas in an outer area of the lung, squamous cell carcinomas in the center of the lung or large cell carcinomas in any part of the lung SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0004462/ 10061873 non-small cell lung cancer AE OAE:0001226 a lung disorder AE that results in the patient suffering from lung cancer at state IV SZ, SS, YH 10029522 non-small cell lung cancer stage iv AE OAE:0001227 an anemia AE that has an outcome of insufficient numbers of red blood cells despite a normal concentration of hemoglobin in the cells SZ, SS, YH normochromic normocytic anaemia AE WEB: http://medical-dictionary.thefreedictionary.com/normocytic+normochromic+anemia 10029783 normochromic normocytic anemia AE HPO: HP_0001897 SIDER: C0271899 OAE:0001229 a respiratory system AE that has an outcome of chronic bronchitis or emphysema which causes the airways to narrow over time SZ, SS, YH WEB: http://www.medicinenet.com/chronic_obstructive_pulmonary_disease_copd/article.htm 10061877 obstructive airways disorder AE HPO: HP_0006536 SIDER: C0600260 OAE:0001230 a gastrointestinal investigation result abnormal AE that results in blood that is present in amounts too small to be seen and can be detected only by chemical analysis or microscopic examination SZ, SS, YH, EB WEB: http://dictionary.reference.com/browse/occult+blood WEB: http://medical-dictionary.thefreedictionary.com/occult+blood\ 10061878 occult blood AE OAE:0001231 a gustatory system AE that has an outcome of painful swallowing in the mouth or esophagus. Can lead to weight loss. SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/odynophagia 10030094 odynophagia AE OAE:0001232 a pain AE located in the esophagus SZ, SS, YH oesophageal pain AE WEB: http://medical-dictionary.thefreedictionary.com/oesophageal 10015388 10030180 esophageal pain AE CTCAE: E10661 HPO: HP_0010833 NCIt: C78280 SIDER: C0221727 OAE:0001233 an esophagus AE that results in a narrowing in the esophagus caused by buildup of scar tissue or by a congenital defect SZ, SS, YH oesophageal stenosis AE WEB: http://esophagealstenosis.org/ 10015448 10030194 esophageal stenosis AE CTCAE: E10670 HPO: HP_0010450 NCIt: C34595 SIDER: C0014866 OAE:0001234 an esophagus AE located in the esophagus, can present with heartburn, and nausea SZ, SS, YH oesophagitis AE WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002138/ 10015461 10030216 esophagitis AE CTCAE: E10687 HPO: HP_0100633 NCIt: C9224 SIDER: C0014868 OAE:0001235 a reproductive system AE that has an outcome of insufficient placenta, the baby may get less oxygen and nutrients SZ, SS, YH placental dysfunction AE WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002455/ 10030289 oligohydramnios AE HPO: HP_0001562 SIDER: C0079924 OAE:0001236 a nail disorder AE that has an outcome of pain in the fingernails or toenails SZ, SS, YH WEB: http://dictionary.reference.com/browse/onychalgia 10064251 onychalgia AE OAE:0001237 a nail disorder AE that results in the breaking of the fingernails or toenails SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/onychoclasis 10048886 onychoclasis AE HPO: HP_0001808 SIDER: C0546956 OAE:0001238 a nail disorder AE that results in the nail separating from the nail bed starting at distal or lateral attachment SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/16422468 10030337 onycholysis AE HPO: HP_0008400 SIDER: C0085661 OAE:0001240 a nail disorder AE that results in nails spontaneously shedding starting from the proximal end SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/onychomadesis 10049274 onychomadesis AE OAE:0001241 Eye disorder AE that results in chronic glaucoma progressing slowly SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002587/ 10030348 open angle glaucoma AE HPO: HP_0000501 SIDER: C0017612 OAE:0001242 a toxicology drug screen result abnormal AE that results in the patient testing positive for opiates SZ, SS, YH, EB 10063232 opiates positive AE OAE:0001243 a digestive system AE that has an outcome of a fungal infection located in the mouth caused by the candida fungus SZ, SS, YH thrush AE WEB: http://www.medicinenet.com/thrush/article.htm 10030963 oral candidiasis AE HPO: HP_0009098 SIDER: C0006849 OAE:0001244 a digestive system AE that has an outcome of fistula, or an abnormal connection between two epithelium-lined organs or vessels, located in the oral cavity SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/fistula 10065720 oral cavity fistula AE CTCAE: E10888 NCIt: C78506 OAE:0001245 a digestive system AE that has an outcome of a viral infection located in the mouth caused by herpes simplex virus, causes painful sores SZ, SS, YH WEB: http://www.emedicinehealth.com/oral_herpes/article_em.htm 10067152 oral herpes AE OAE:0001246 a gustatory system AE that has an outcome of a decreased amount of substance in food or drinking water ingested SZ, SS, YH oral intake reduced AE OAE:0001247 Digestive System AE that results in oral lesions SZ, SS, YH 10064594 oral mucosa erosion AE OAE:0001248 an erythema AE that results in redness of the oral mucosa area SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/17767983 10067418 oral mucosal erythema AE OAE:0001249 a pain AE located in the oral cavity, pertaining to the mouth SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/oral 10031009 oral pain AE CTCAE: E10904 HPO: HP_0010833 NCIt: C78509 SIDER: C0221776 OAE:0001250 a digestive system AE that has an outcome of disease in the soft tissue of the mouth or systemic diseases involving the mouth SZ, SS, YH WEB: http://clinicaltrials.gov/show/NCT00001601 10031015 oral soft tissue disorder AE OAE:0001252 an edema that results in swelling around the eyes SZ, SS, YH orbital oedema AE WEB: http://www.ncbi.nlm.nih.gov/pubmed/7654583 10031051 orbital edema AE HPO: HP_0100539 SIDER: C0424813 OAE:0001253 a pneumonia AE that results in the healing process being characterized by organization and cicatrizaion of the exudate rather than resolution SZ, SS, YH organising pneumonia AE WEB: Primary Source: http://thorax.bmj.com/content/55/4/318.full Secondary Source: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1745738/ 10067472 organizing pneumonia AE HPO: HP_0002090 SIDER: C0264383 OAE:0001254 Digestive System AE that is characterized by fungus (mainly Candida albicans, but can be other Candida species - C.glabrata, C. tropicalis, C. krusei) in throat or mouth (Thrush) SZ, SS, YH WEB: http://www.cdc.gov/fungal/candidiasis/thrush/ 10050346 oropharyngeal candidiasis AE HPO: HP_0009098 SIDER: C0919659 OAE:0001255 a digestive system AE that has an outcome of muscle spasm in the oropharynx area SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/Oropharyngeal+airway 10031111 oropharyngeal spasm AE HPO: HP_0003739 SIDER: C0234952 OAE:0001256 a bone disorder AE that has an outcome of bacterial infection in the bone SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001473/ 10031252 osteomyelitis AE HPO: HP_0007626 SIDER: C0029443 OAE:0001257 a bone disorder AE that has an outcome of chronic infection of the bone or bone marrow SZ, SS, YH WEB: Primary Source: http://www.posna.org/education/StudyGuide/chronicOsteomyelitis.asp Secondary Source: http://www.ncbi.nlm.nih.gov/pubmed/20471296 10031256 osteomyelitis chronic AE OAE:0001259 a bone disorder AE that has an outcome of bone death due to the loss of blood supply, leading to pain and arthritis SZ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/osteonecrosis.html 10031264 osteonecrosis AE HPO: HP_0010885 SIDER: C0029445 OAE:0001260 a bone disorder AE that has an outcome of disease that affects the maxilla and the mandible, characterized through exposure of the bone through lesions in the gingiva that do not heal SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/16702591 10064658 osteonecrosis of jaw AE HPO: HP_0010885 SIDER: C1401381 OAE:0001261 a bone disorder AE that has an outcome of necrosis or death of bone as a result of exposure to radiation SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/osteoradionecrosis 10067352 osteoradionecrosis AE OAE:0001262 a bone disorder AE that has an outcome of elevation in bone density SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/osteosclerosis 10031298 osteosclerosis AE HPO: HP_0011001 SIDER: C0029464 OAE:0001263 a female reproductive system AE that has an outcome of cancer that starts in the ovaries, female reproductive organs that produce eggs SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001891/ 10033128 ovarian cancer AE HPO: HP_0100615 SIDER: C1140680 OAE:0001264 Female reproductive system AE that results in an enlargement of the patient's ovaries SZ, SS, YH 10033157 ovarian enlargement AE OAE:0001265 a female reproductive system AE that has an outcome of an abnormal mass appearing in the patient's ovaries SZ, SS, YH 10058823 ovarian mass AE OAE:0001267 an oxygen saturation abnormal AE that has an outcome of a decreased percentage of hemoglobin binding sites in the bloodstream occupied by oxygen SZ, SS, YH, EB WEB: Primary Source: http://www.mayoclinic.com/health/hypoxemia/MY00219\ Secondary Source: http://medical-dictionary.thefreedictionary.com/oxygen+saturation 10033318 oxygen saturation decreased AE OAE:0001268 a pain AE that has an outcome of pain in the set of bones that hold the teeth SZ, SS, YH 10033433 pain in jaw AE HPO: HP_0200023 SIDER: C0236000 OAE:0001269 a pain AE located in the skin SZ, SS, YH, MW 10033474 pain of skin AE CTCAE:E13668 HPO: HP_0010833 NCIt:C78516 SIDER: C0241136 OAE:0001270 a erythema AE that is characterized by the reddening of the palms at the thenar and hypothenar eminences SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/18039017 10033551 palmar erythema AE HPO: HP_0007548 SIDER: C0014745 OAE:0001271 a skin AE generally caused by chemotherapy that is characterized by the palms and soles becoming red, swollen, numb and the skin peeling. YH: MedDRA: 10033553 is for "palmar-plantar erythrodysaesthesia syndrome"; MedDRA: 10054524 is for "palmar-plantar erythrodysesthesia syndrome". SZ, SS, YH, MW Hand Food Syndrome AE palmar-plantar erythrodysaesthesia syndrome AE WEB: http://news.cancerconnect.com/hand-foot-syndrome-palmar-plantar-erythrodysesthesia/ palmar-plantar erythrodysesthesia syndrome AE CTCAE: E13672 NCIt: C27177 UMLS CUI: C0549410 OAE:0001272 Tumor AE that results in an undifferentiated growth in the patient's pancreas SZ, SS, YH WEB: Primary Source: http://stanfordhospital.org/digestivehealth/pancreas/conditions/pancreatic-cysts-symptoms-diagnosis.html Secondary Source: http://www.ncbi.nlm.nih.gov/pubmed/22855657 10049082 pancreatic mass AE OAE:0001273 a pancreatitis AE that has an outcome of sudden inflammation of the pancreas SZ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/000287.htm 10033647 pancreatitis acute AE HPO: HP_0001735 SIDER: C0001339 OAE:0001274 a pancreatitis AE that results in pancreatitis reoccurring in the patient SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002129/ 10033657 pancreatitis relapsing AE OAE:0001275 Hematopoietic System AE that results in a reduction in the amount of red and white blood cells and platelets in blood SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/pancytopenia 10033661 pancytopenia AE HPO: HP_0001876 SIDER: C0030312 OAE:0001276 an edema AE that has an outcome of optic disc swelling that is caused by increased intracranial pressure SZ, SS, YH papilledema AE WEB: http://medical-dictionary.thefreedictionary.com/Papilloedema 10033703 10033712 papilloedema AE CTCAE: E10411 HPO: HP_0001085 NCIt: C3307 SIDER: C0030353 OAE:0001278 Tumor AE that results in a benign tumor in the parathyroid region SZ, SS, YH parathyroid tumour benign AE WEB: http://www.nlm.nih.gov/medlineplus/ency/article/001188.htm 10033964 parathyroid tumor benign AE OAE:0001279 a skin infection AE thar occurs around the fingernails and toenailsnail. Bacteria or a type of yeast called Candida cause this infection. Bacteria and yeast can even combine into one infection. SZ, SS, YH, MW nail infection AE WEB: http://www.healthline.com/health/paronychia WEB: https://en.wikipedia.org/wiki/Paronychia 10034016 paronychia AE HPO: HP_0001818 SIDER: C0030578 OAE:0001280 a bone disorder AE that has an outcome of a broken bone caused by disease leading to weakenss of the bone, commonly osteoporosis SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/pathological+fracture 10034156 pathological fracture AE HPO: HP_0005744 SIDER: C0016663 OAE:0001281 a cardiac disorder AE that has an outcome of abnormal accumulation of fluid in the pericardial cavity SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3110902/ 10034474 pericardial effusion AE CTCAE: E10172 HPO: HP_0001698 NCIt: C3319 SIDER: C0031039 OAE:0001282 a pain AE that results in soreness around the vaginal opening after giving birth SZ, SS, YH, MW WEB: http://www.ncbi.nlm.nih.gov/pubmed/20002420 10061339 perineal pain AE CTCAE:E13175 NCIt:C78529 OAE:0001283 a digestive system AE that has an outcome of inflammation and infection that destroys the tissues that support the teeth, including the gums, the periodontal ligaments and the tooth sockets SZ, SS, YH gingivitis AE WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002051/ 牙龈炎 10034536 periodontal disease AE CTCAE: E10935 HPO: HP_0000704 NCIt: C63743 SIDER: C0031090 OAE:0001284 a bone disorder AE that has an outcome of inflammation and infection of the ligaments and bones that support the teeth SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002054/ 10034539 periodontitis AE HPO: HP_0000704 SIDER: C0031099 OAE:0001285 an ischaemia AE that has an outcome of restriction in blood supply to tissues, causing a shortage of oxygen and glucose needed for cellular metabolism YH: MedDRA: 10034576 is for "peripheral ischaemia"; MedDRA: 10034578 is for "peripheral ischemia". SZ, SS, YH peripheral ischaemia AE WEB: Primary Source: http://www.medterms.com/script/main/art.asp?articlekey=4052 Secondary Source: http://www.ncbi.nlm.nih.gov/pubmed/6430442 外周缺血 10034576 10034578 peripheral ischemia AE CTCAE:E13810 HPO: HP_0002597 NCIt: C78535 SIDER: C0235490 OAE:0001286 a motor neuropathy AE that results in damage to the nerves outside of the brain and spinal cord SZ, SS, YH, MW WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001619/ 10034580 peripheral motor neuropathy AE CTCAE:E12762 HPO: HP_0007178 NCIt:C3500 SIDER: C0235025 OAE:0001287 a peripheral sensory neuropathy AE that results in the patient losing the ability to move or feel. SZ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/000750.htm 10056673 Neuropathy can affect nerves that provide feeling (sensory neuropathy) or cause movement (motor neuropathy). It can also affect both, in which case it is called a sensorimotor neuropathy. peripheral sensorimotor neuropathy AE OAE:0001288 a sensory neuropathy AE that has an outcome of damaged nerves outside the brain and spinal cord SZ, SS, YH, MW WEB: http://medical-dictionary.thefreedictionary.com/Peripheral+sensory+neuropathy 10034620 peripheral sensory neuropathy AE CTCAE:E12768 HPO: HP_0000763 NCIt:C3501 SIDER: C0151313 OAE:0001289 an abscess AE that results in a collection of infected material around the tonsils SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001981/ 10034686 peritonsillar abscess AE HPO: HP_0001739 SIDER: C0031157 OAE:0001290 Respiratory system AE characterized by the whooping cough SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002528/ 10034738 pertussis AE OAE:0001291 a hemorrhage AE that has an outcome of tiny pinpoint red dots that form due to broken blood vessels under the skin SZ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/003235.htm 10034754 petechiae AE HPO: HP_0000967 MP: MP_0008816 SIDER: C0031256 OAE:0001292 Inflammation AE that results in an inflammation of the pharyngeal region SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/11172144 10065716 pharyngeal inflammation AE OAE:0001293 a phlebitis that is characterized by blood clots that occur in different locations SZ, SS, YH WEB: Primary Source: http://medical-dictionary.thefreedictionary.com/Thrombophlebitis Secondary Source: http://emedicine.medscape.com/article/463256-overview 10034902 phlebitis superficial AE OAE:0001294 a skin AE that results in the patient's skin becoming diseased due to exposure to sunlight SZ, SS, YH WEB: Primary Source: http://medical-dictionary.thefreedictionary.com/photodermatosis Secondary Source http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3063367/ 10051246 photodermatosis AE HPO: HP_0000992 SIDER: C0920193 OAE:0001295 a skin AE that shows a cutaneous disease as a result of sun allergy and may be induced by different triggers such as a chemical. MedDRA: 10034972 and UMLS CUI: C0162830 are for "photosensitivity reaction"; MedDRA: 10034966 and UMLS CUI: C0349506 are for "photosensitivity". SZ, SS, YH, MW photosensitivity AE WEB: http://emedicine.medscape.com/article/1049648-overview WEB: http://www.merckmanuals.com/home/skin-disorders/sunlight-and-skin-damage/photosensitivity-reactions 10034966 10034972 photosensitivity reaction AE CTCAE: E13680 HPO: HP_0000992 NCIt: C38004 SIDER: C0162830 UMLS CUI: C0349506; UMLS CUI: C0162830 OAE:0001296 a skin AE that has an outcome of loss or reduction in human skin color, may be related to loss of melanocytes or inability of melanocytes to produce melanin SZ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/skinpigmentationdisorders.html 10062080 pigmentation disorder AE HPO: HP_0001000 SIDER: C0549567 OAE:0001297 a conduction system disorder AE that refers to partial or complete block of electrical impulses originating in the atrium or sinus node, preventing them from reaching the AV node and ventricles SS AV block heart block WEB: http://www.medilexicon.com/medicaldictionary.php?t=10751 10003671 atrioventricular block AE HPO: HP_0001678 SIDER: C0004245 OAE:0001298 a respiratory system AE that has an outcome of fluid buildup between the layers of tissue that line the lungs and chest cavity SZ, SS, YH, MW WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001150/ 10035598 pleural effusion AE CTCAE:E13486 HPO: HP_0002202 NCIt:C3331 SIDER: C0032227 OAE:0001299 a hemorrhage AE that has an outcome of bleeding in the pleural cavity, the potential space between the two pleura of the lungs MedDRA: 10035601 is for "pleural haemorrhage"; MedDRA: 10055319 is for "pleural hemorrhage". SZ, SS, YH pleural haemorrhage AE WEB: http://medical-dictionary.thefreedictionary.com/hemothorax 10035601 10055319 pleural hemorrhage AE CTCAE: E13492 NCIt: C50582 UMLS CUI: C0019123 OAE:0001300 a lung disorder AE that has an outcome of inflammation of the lining of the lungs and chest that leads to chest pain SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002347/ 10035618 pleurisy AE HPO: HP_0002102 SIDER: C0032231 OAE:0001301 a pain AE induced by inflammation in the lungs that is characterized by sharp or stabbing pain in the chest SZ, SS, YH, MW WEB: http://pleuriticchestpain.net/, http://medical-dictionary.thefreedictionary.com/Pleuritic+chest+pain 10035623 pleuritic pain AE CTCAE:E13498 NCIt:C78564 OAE:0001302 a gastrointestinal disorder AE that results in gas cysts developing within the walls of the small or large intestine SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/9530294 10057030 pneumatosis intestinalis AE OAE:0001303 a pneumonia AE that has an outcome of a fungal infection of the lungs by Pneumocystis jiroveci SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001692/ 10064108 pneumocystis jiroveci pneumonia AE HPO: HP_0002096 SIDER: C1535939 OAE:0001304 Respiratory System AE that results in air being present in the mediastinum SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001148/ 10050184 pneumomediastinum AE OAE:0001305 a pneumonia AE that has an outcome of inflammation in the lungs and airways to the lungs from breathing in foreign material SZ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/000121.htm 10035669 pneumonia aspiration AE HPO: HP_0002100 SIDER: C0032290 OAE:0001306 a pneumonia AE that has an outcome of an acute systemic disease with involvement of the lungs, caused by Mycoplasma pneumoniAE and marked by high fever and cough SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/primary+atypical+pneumonia 10035730 pneumonia primary atypical AE OAE:0001307 a lung inflammation AE located in the lung tissue SZ, SS, YH, MW pulmonitis AE WEB: http://medical-dictionary.thefreedictionary.com/pneumonitis 10035742 pneumonitis AE CTCAE:E13502 NCIt:C3333 OAE:0001308 a lung disorder AE that has an outcome of a collapsed lung due to collection of air in the space around the lungs. SZ, SS, YH, MW WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001151/ 10035759 pneumothorax AE CTCAE:E13508 HPO: HP_0006522 NCIt:C38006 SIDER: C0032326 OAE:0001309 a urinary system AE that results in abnormally frequent urination SZ, SS, YH frequent micturition AE polyuria AE WEB: http://www.merriam-webster.com/medical/pollakiuria 10036018 pollakiuria AE HPO: HP_0000103 SIDER: C0042023 OAE:0001310 a hematopoietic disorder AE that results in the bone marrow producing too many red blood cells SZ, SS, YH polycythaemia vera AE WEB: http://medical-dictionary.thefreedictionary.com/Polycythaemia+vera 10036057 polycythemia vera AE OAE:0001311 a hypertension AE located in the heptatic portal system caused by obstruction or occlusion that produces splenomegaly and ascites in its later stages SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/21129318 http://www.merriam-webster.com/medlineplus/portal%20hypertension 10036200 portal hypertension AE CTCAE: E11238 HPO: HP_0001409 NCIt: C3119 SIDER: C0020541 OAE:0001312 a thrombosis AE that has an outcome of formation of a blood clot affecting the hepatic portal vein, can lead to hypertension or reduction of blood supply to the liver SZ, SS, YH PVT WEB: http://medical-dictionary.thefreedictionary.com/portal+vein+thrombosis 10036206 portal vein thrombosis AE CTCAE: E11243 NCIt: C78565 OAE:0001313 a syndrome that results in the patient suffering a set of problems after having a spinal tap procedure SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/19921503 10060854 post lumbar puncture syndrome AE OAE:0001314 Fever AE that results in a fever occurring after an operation SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/22774619 10050087 postoperative fever AE OAE:0001315 A thrombosis AE that occurs after an operation that results in a blood clot in a blood vessel disrupting blood flow throughout the body SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/19756494 10050902 postoperative thrombosis AE OAE:0001316 Female reproductive system AE that results in the patient getting pregnant even when using a contraceptive SZ, SS, YH 10067667 pregnancy on contraceptive AE OAE:0001317 a perinatal AE that has an outcome of premature baby SZ, SS, YH 10036590 premature baby AE OAE:0001318 a pregnancy AE that has an outcome of labor beginning prior to the 37th week of gestation SZ, SS, YH premature labour AE preterm labor AE WEB: http://wordnetweb.princeton.edu/perl/webwn?s=premature%20labor 10036600 premature labor AE OAE:0001319 a sensory capability AE that has an outcome of a near-fainting episode which may include lightheadedness, dizziness, severe weakness, blurred vision, which may precede syncopal episode SZ, SS, YH, MW WEB: http://medical-dictionary.thefreedictionary.com/presyncope 10036653 presyncope AE CTCAE:E12778 HPO: HP_0002321 NCIt:C80100 SIDER: C0700200 OAE:0001320 a bone disorder AE that has an outcome of a piece of dead bone that completely separates from sound bone during the process of necrosis SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/primary+sequestrum 10052460 primary sequestrum AE OAE:0001321 a coronary artery disorder AE that results in cardiac pain at rest that occurs in cycles SZ, SS, YH Prinzmetal's angina AE coronary vessel spasm AE WEB: http://medical-dictionary.thefreedictionary.com/prinzmetal+angina 10036759 prinzmetal angina AE HPO: HP_0001681 SIDER: C0002963 OAE:0001322 a digestive system AE that results in the pain located at the anus or in the rectum SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/proctalgia 10036772 proctalgia AE HPO: HP_0004378 SIDER: C0034886 OAE:0001323 A medical intervention that is a procedure occuring in the inside structures of the tooth, including the dental pulp and tooth root, and the periapical tissue surrounding the root. YH, SS WEB: http://medical-dictionary.thefreedictionary.com/endodontic 10051085 endodontic procedure OAE:0001326 a cough AE that has an outcome of secretions that could be mucous or blood SZ, SS, YH, MW WEB: http://coldflu.about.com/od/glossary/g/productivecough.htm 10036790 productive cough AE CTCAE:E13517 NCIt:C78569 OAE:0001327 a tumor AE that has an outcome of cancer that starts in the prostate gland, the small structure that wraps around the urethra carrying urine out of the body SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001418/ 10060862 prostate cancer AE HPO: HP_0012125 SIDER: C0376358 OAE:0001328 a physical examination result abnormal AE that results in a prostate exam being different than expected SZ, SS, EB 10055025 prostate examination abnormal AE OAE:0001329 a male reproductive system AE that has an outcome of an increased amount of prostatic specific antigen, a glycoprotein enzyme present in small quantities in the serum of men with healthy prostates. May indicate prostate cancer or prostate disorders SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/23277770 10036975 prostatic specific antigen increased AE OAE:0001330 a protein and chemistry analysis result abnormal AE that is characterized by the protein level in the body being abnormal SZ, SS, YH, EB 10037012 protein total abnormal AE OAE:0001331 a prothrombin level abnormal AE that is characterized by a decrease in level of prothrombin in body SZ, SS, YH, EB WEB: http://medical-dictionary.thefreedictionary.com/prothrombin 10037050 prothrombin level decreased AE OAE:0001332 a prothrombin time abnormal AE that has an outcome of prolonged time for plasma in the blood to clot SZ, SS, YH, EB WEB: http://www.nlm.nih.gov/medlineplus/ency/article/003652.htm 10037063 prothrombin time prolonged AE OAE:0001333 a digestive system AE that has an outcome of infection in the large intestine with an overgrowth of Clostridium difficile bacteria SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001305/ 10037128 pseudomembranous colitis AE HPO: HP_0002583 SIDER: C1257843 OAE:0001334 a bacterial infection AE that has an outcome of infection by genus Pseudomonas, typically targets respiratory tract SZ, SS, YH WEB: http://emedicine.medscape.com/article/970904-overview 10061471 pseudomonas infection AE HPO: HP_0005429 SIDER: C0033817 OAE:0001335 a psychiatric disorder AE that results in physical pain being caused by the patient's life stresses SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/psychosomatic+disease 10049587 psychosomatic disease AE OAE:0001336 A mental disorder AE that results in abnormal condition of the mind SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/psychotic+disorder 10061920 psychotic disorder AE HPO: HP_0000709 SIDER: C0033975 OAE:0001338 a lung disorder AE that has an outcome of hypertension or abnormally high blood pressure in the arteries of the lungs SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001171/ 10064911 pulmonary arterial hypertension AE HPO: HP_0002092 SIDER: C2973725 OAE:0001339 a lung disorder AE that has an outcome of engorgement of pulmonary vessels with transudation of fluid into the alveolar and interstitial spaces, seen in cardiac disease, infections, and certain injuries SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/pulmonary+congestion 10037368 pulmonary congestion AE HPO: HP_0004930 SIDER: C0242073 OAE:0001340 an arterial embolism AE that results in the blockage of the main artery of a lung or one of its branches by a substance that has travelled from elsewhere in the body through the bloodstream [SS] moved by relation 'SubclassOf' from lung disorder AE to arterial embolism on 01/07/14 SZ, SS, YH pulmonary artery thrombosis AE pulmonary thrombosis AE WEB: http://www.ncbi.nlm.nih.gov/pubmed/23299609 10037377 10037437 pulmonary embolism AE HPO: HP_0002204 SIDER: C0034065 OAE:0001341 a lung disorder AE wih the outcome of damaged or scarred lung tissue. Thickened tissue impairs lung function SZ, SS, YH, MW WEB: http://www.mayoclinic.com/health/pulmonary-fibrosis/DS00927 10037383 pulmonary fibrosis AE CTCAE:E13527 HPO: HP_0002206 NCIt:C26869 SIDER: C0034069 OAE:0001342 a lung disorder AE that has an outcome of acute bleeding from the lung, especially in the upper respiratory tract and the endotracheal tube SZ, SS, YH pulmonary haemorrhage AE WEB: http://www.ncbi.nlm.nih.gov/pubmed/23217914 10037394 pulmonary hemorrhage AE OAE:0001343 a lung disorder AE that has an outcome of abnormally high blood pressure in the arteris of the lungs SZ, SS, YH, MW WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001171/ 10037400 pulmonary hypertension AE CTCAE:E13539 HPO: HP_0002092 NCIt:C3120 SIDER: C0020542 OAE:0001344 a lung disorder AE that has an outcome of an abnormal spot in the lungs that is more than 3 cm in size SZ, SS, YH WEB: http://lungcancer.about.com/od/whatislungcancer/a/Lung-Mass.htm 10056342 pulmonary mass AE OAE:0001345 a lung disorder AE that has an outcome of edema or abnormal buildup of fluid in the air sacs of the lungs, leads to shortness of breath MedDRA: 10037423 is for "pulmonary oedema"; MedDRA: 10037375 is for "pulmonary edema" SZ, SS, YH, MW pulmonary oedema AE WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001195/ pulmonary edema AE CTCAE: E13521 HPO: HP_0100598 NCIt: C26868 SIDER: C0034063 UMLS CUI: C0034063 OAE:0001346 a cardiovascular disorder AE that has an outcome of an inability to detect pulse SZ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/003078.htm 10037469 pulse absent AE OAE:0001347 a cardiovascular disorder AE that has an outcome of abnormally low pulse pressure, less than 25% of systolic value. Can indicate blood loss or low stroke volume SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/pulse+pressure 10037480 pulse pressure decreased AE OAE:0001348 an adverse event with an outcome of the release or secretion of pus SZ, SS, YH WEB: http://www.medterms.com/script/main/art.asp?articlekey=21858 10037569 purulent discharge AE OAE:0001349 a kidney disorder AE that is characterized by the dilation of calices, usually due to obstruction or infection SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/calicectasis 10061927 pyelocaliectasis AE OAE:0001350 an injury AE caused by ionizing radiation SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/Radiation+Injuries 10037760 radiation injury AE OAE:0001351 a digestive system AE that results in the inflammation of mucous membranes lining the digestive tract. Caused by radiation, can lead to mouth sores SZ, SS, YH WEB: http://www.medterms.com/script/main/art.asp?articlekey=19881 10037763 radiation mucositis AE OAE:0001352 a digestive system AE that has an outcome of inflammation that radiation causes swelling of the esophagus SZ, SS, YH radiation oesophagitis AE WEB: http://medical-dictionary.thefreedictionary.com/esophagitis 10048899 radiation esophagitis AE OAE:0001353 a lung inflammation AE due to radiation therapy SZ, SS, YH WEB: http://www.medterms.com/script/main/art.asp?articlekey=8091 10037765 radiation pneumonitis AE OAE:0001354 a skin AE that has an outcome of injury to the skin and underlying tissues from exposure to a large external dose of radiation SZ, SS, YH WEB: http://www.bt.cdc.gov/radiation/criphysicianfactsheet.asp 10063562 radiation skin injury AE NCIt: C3349 OAE:0001355 a respiratory system AE that has an outcome of clicking, rattling or crackling noises made by one or both lungs during inhalation SZ, SS, YH Crackles WEB: http://medical-dictionary.thefreedictionary.com/crackles 10037833 rales AE OAE:0001356 a rash ae adverse event that results in redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin SZ, SS, YH rash erythematous AE WEB: http://www.ncbi.nlm.nih.gov/pubmed/23145421 10037855 erythematous rash AE HPO: HP_0007432 SIDER: C0234913 OAE:0001357 a rash AE occuring in several areas of the body SZ, SS, YH rash (generalized) AE rash generalised AE WEB: http://www.freemd.com/rash-generalized/overview.htm 10037858 generalized rash AE HPO: HP_0000988 SIDER: C0497365 OAE:0001358 a rash AE that has an outcome of an unpleasant sensation of the skin that provokes the uge to scratch SZ, SS, YH WEB: http://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/dermatology/pruritus-itch/ 10037884 rash pruritic AE OAE:0001359 an inflammation AE that has an outcome of an inflammatory reaction limited to a previously X-irradiated field when the patient is treated months/years later with certain drugs SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/7577597 10060856 recall phenomenon AE OAE:0001360 Digestive System AE that results in bleeding in the rectal area SZ, SS, YH rectal haemorrhage AE 10038063 10038064 rectal hemorrhage AE CTCAE: E10955 HPO: HP_0002573 NCIt: C27054 SIDER: C0267596 OAE:0001361 a red blood cell count abnormal AE that has an outcome of a decrease in red blood cells SZ, SS, YH, EB WEB: http://www.nlm.nih.gov/medlineplus/ency/article/003644.htm 10038153 red blood cell count decreased AE HPO: HP_0001903 SIDER: C0427457 OAE:0001362 a digestive system disorder AE that results in the inflammation of the stomach lining due to reflux SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/gastritis 10057969 reflux gastritis AE OAE:0001363 a digestive system AE located in the esophagus, can present with heartburn, and nausea, caused by gastroesophageal reflux disease SZ, SS, YH reflux oesophagitis AE WEB: http://medical-dictionary.thefreedictionary.com/esophagitis 10038263 reflux esophagitis AE HPO: HP_0100633 SIDER: C0014869 OAE:0001364 a kidney disorder AE that results in kidneys failing to adequately filter toxins and waste from the blood SZ, SS, YH kidney failure AE renal insufficiency AE WEB: http://medical-dictionary.thefreedictionary.com/renal+failure 10038435 renal failure AE HPO: HP_0000083 SIDER: C0035078 OAE:0001365 a kidney disorder AE that results in the rapid loss or decline of kidney function As shown on the renal.org website (http://www.renal.org/guidelines/modules/acute-kidney-injury), Acute kidney injury (AKI) has now replaced the term acute renal failure. SZ, SS, YH, Izabela Birsanescu, MW AKI renal failure acute AE WEB: http://medical-dictionary.thefreedictionary.com/acute+renal+failure WEB: http://www.mayoclinic.org/diseases-conditions/kidney-failure/basics/definition/con-20024029 10038436 10069339 Acute kidney failure occurs when kidneys become unable to filter waste products from blood. acute kidney injury AE CTCAE:E12973 HPO: HP_0001919 NCIt:C26808 SIDER: C0022660 OAE:0001366 a kidney disorder AE that results in the kidneys failing to adequately filter toxins and waste from the blood SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/23263712 10062237 renal impairment AE HPO: HP_0000082 SIDER: C0341697 OAE:0001367 kidney disorder AE that results in the renal tubule wasting away and losing strength/functional abilities SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/nephron 10038536 renal tubular atrophy AE OAE:0001368 a kidney disorder AE that results in the renal artery narrowing SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/renal+artery+stenosis 10038553 renal vessel disorder AE OAE:0001369 Respiratory system AE that is characterized by conditions that affect organs and systems that deal with gas exchange SZ, SS, YH WEB: http://www.thefreedictionary.com/respiratory+disorder 10038683 respiratory disorder AE HPO: HP_0002086 SIDER: C0035204 OAE:0001370 a respiratory system AE that has an outcome of a condition where lungs cannot remove all the carbon dioxide the body produces, makes body fluid too acidic SZ, SS, YH respiratory failure AE WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001154/ 10038695 respiratory acidosis AE CTCAE:E13545 HPO: HP_0004877 NCIt:C26872 SIDER: C1145670 OAE:0001371 a respiratory system AE that has an outcome of a ventilory rate greater than 20 breaths per minute SZ, SS, YH WEB: http://www.thefreedictionary.com/tachypnea 10038712 respiratory rate increased AE OAE:0001372 Respiratory System AE that results in bleeding somewhere in the respiratory system SZ, SS, YH respiratory tract haemorrhage AE WEB: http://www.ncbi.nlm.nih.gov/pubmed/8692086 10038727 respiratory tract hemorrhage AE OAE:0001373 an infection AE that has an outcome of infection in the respiratory tract, includes pneumonia as well as lung abscess and acute bronchitis SZ, SS, YH WEB: http://www.thefreedictionary.com/respiratory+tract+infection 10062352 respiratory tract infection AE HPO: HP_0002873 SIDER: C0035243 OAE:0001374 an eye disorder AE that has an outcome of bleeding in the eye SZ, SS, YH retinal haemorrhage AE WEB: http://medical-dictionary.thefreedictionary.com/retinal+hemorrhage 10038867 retinal hemorrhage AE HPO: HP_0000573 SIDER: C0035317 OAE:0001375 Eye Disorder AE that results in a tearing of retinal pigment epithelial tissue SZ, SS, YH 10062971 retinal pigment epithelial tear AE OAE:0001376 Amnesia AE that results in the patient forgeting things that happened before the onset of an injury or disease SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/retrograde+amnesia 10038965 retrograde amnesia AE HPO: HP_0002354 SIDER: C0002624 OAE:0001377 an encephalopathy AE that is characterized by headache, confusion, seizures and visual loss, tends to resolve over time SZ, SS, YH, MW 10063761 reversible posterior leukoencephalopathy syndrome AE CTCAE:E12798 NCIt:C78598 OAE:0001378 a muscle adverse event that results in damaged skeletal muscle tissue breaks down rapidly SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/rhabdomyolysis 10039020 rhabdomyolysis AE HPO: HP_0009045 SIDER: C0035410 OAE:0001379 a right ventricular dysfunction AE that has an outcome of congestive heart failure manifested by distention of the neck veins, enlargement of the liver, and dependent edema SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/right+ventricular+failure 10039163 right ventricular failure AE HPO: HP_0001708 SIDER: C2939447 OAE:0001380 A pregnancy AE that results in the growing pregnancy in a woman's fallopian tube becoming larger than the tube and causing it to rupture SZ, SS, YH WEB: http://www.freemd.com/ruptured-ectopic-pregnancy/overview.htm 10048407 ruptured ectopic pregnancy AE OAE:0001381 an abnormal salivary gland physiology AE that results in the salivary glands becoming irritated and/or swollen SZ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/salivaryglanddisorders.html 10061935 salivary gland disorder AE HPO: HP_0010286 SIDER: C0036093 OAE:0001382 a skin AE that has an outcome of a hard coating formed during the wound healing reconstruction phase SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/scab 10039509 scab AE HPO: HP_0007564 SIDER: C0205204 OAE:0001383 a nervous system AE that results in the sciatic nerve losing its sensory capabilities SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/21995439 10039670 sciatic nerve injury AE OAE:0001384 an eye disorder AE that is characterized by an excessive accumulation of blood in the eye SZ, SS, YH scleral hyperaemia AE WEB: http://medical-dictionary.thefreedictionary.com/hyperaemia 10052130 scleral hyperemia AE OAE:0001385 a dementia AE that results in an elderly patient suffering from dementia SZ, SS, YH 10039966 senile dementia AE OAE:0001386 a sensory capability AE that results in the patient feeling their blood flow SZ, SS, YH 10039996 sensation of blood flow AE OAE:0001387 a shock AE that has an outcome of life-threatening low blood pressure SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001689/ 10040070 septic shock AE HPO: HP_0002718 SIDER: C0036983 OAE:0001389 Blood cell lab test abnormal AE showing an increase in the number of immature leukocytes in peripheral blood. (in hematology) a predominance of immature leukocytes noted in a differential white blood cell count. It is usually indicative of an infection or inflammation. The term derives from a graph of blood components in which immature cell frequencies appear on the left side of the graph. SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/shift 10056383 shift to the left AE OAE:0001390 a physiological shock AE that has an outcome of hypovolemic shock resulting from acute hemorrhage and characterized by hypotension, tachycardia, oliguria, and by pale, cold and clammy skin SZ, SS, YH shock haemorrhagic AE WEB: http://medical-dictionary.thefreedictionary.com/hemorrhagic+shock 10049771 shock hemorrhagic AE OAE:0001391 a gastrointestinal disorder AE that results in the sigmoid colon being inflamed SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/sigmoiditis 10052058 sigmoiditis AE OAE:0001392 a respiratory system AE that has an outcome of disease in the air-filled spaces that surround the nasal cavity, above the eyes and behind the ethmoids SZ, SS, YH, MW WEB: http://medical-dictionary.thefreedictionary.com/paranasal+sinuses 10062244 sinus disorder AE CTCAE:E13560 NCIt:C26843 OAE:0001393 a tachycardia AE that has an outcome of elevated impulses originating from the sinoatrial node, greater than 100 bpm SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/sinus+tachycardia 10040752 sinus tachycardia AE CTCAE: E10214 HPO: HP_0001649 NCIt: C26889 SIDER: C0039239 OAE:0001394 a skin AE that is characterized by sore, cracked, or rough skin, usually on the hands, face and lips. SZ, SS, YH WEB: http://wellbeing.doctissimo.com/wellbeing-a-z/chapped-skin.html 10040813 skin chapped AE OAE:0001395 a skin AE that results in linear-like cleavages in the skin SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/fissure 10040849 skin fissures AE OAE:0001396 a skin AE that has an outcome of bleeding at the skin SZ, SS, YH skin haemorrhage AE WEB: http://www.nlm.nih.gov/medlineplus/ency/article/003235.htm 10064265 skin hemorrhage AE HPO: HP_0000967 SIDER: C0852361 OAE:0001397 a skin AE that has an outcome of darkening in an area of skin or nails caused by increased melanin SZ, SS, YH, MW WEB: http://medical-dictionary.thefreedictionary.com/hyperpigmentation 10040865 skin hyperpigmentation AE CTCAE:E13718 HPO: HP_0010284 NCIt:C79731 SIDER: C0162834 OAE:0001398 a skin AE that has an outcome of infection. Can be bacterial, fungal, parasitic or viral SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/skin+infection 10040872 skin infection AE CTCAE: E11568 HPO: HP_0001581 NCIt: C35025 SIDER: C0037278 OAE:0001399 a skin AE that has an outcome of a jagged wound, can be shallow cuts or deep gahes that penetrate through muscle to internal organs and bone SZ, SS, YH WEB: http://www.mdguidelines.com/lacerations 10058818 skin laceration AE OAE:0001400 a skin AE that has an outcome of a superficial growth or patch of the skin that does not resemble the area surrounding it SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/Skin+Lesions 10040882 skin lesion AE HPO: HP_0011355 SIDER: C0037284 OAE:0001401 a skin AE that has an outcome of exposure of skin to nonspecific irritants or from the action of specific allergens SZ, SS, YH WEB: http://encyclopedia2.thefreedictionary.com/Skin+Reactions 10040914 skin reaction AE OAE:0001402 a skin AE that has an outcome of irritation, sensitization and phototoxicity SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/dermal+toxicity 10059516 skin toxicity AE OAE:0001403 a behavior and neurological AE that results in irregular sleep patterns SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/sleep+disorder 10040984 sleep disorder AE HPO: HP_0002360 SIDER: C0851578 OAE:0001404 an eating disorder AE that is characterized by patient searching for food while asleep SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/23205019 10067315 sleep-related eating disorder AE OAE:0001405 a gastrointestinal disorder AE that has an outcome of a blockage that keeps substance from passing through the small intestine, may be caused by fibrous bands of tissue in the abdomen, inflamed/infected pouches in the intestine, or hernias and tumors SZ, SS, YH WEB: http://www.mayoclinic.com/health/intestinal-obstruction/DS00823 10041101 small intestinal obstruction AE CTCAE: E11021 HPO: HP_0005214 NCIt: C78615 SIDER: C0235329 OAE:0001407 a gastrointestinal disorder AE in which the blood vessels in the small intestine narrow SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/stenosis 10062263 small intestinal stenosis AE CTCAE: E11032 NCIt: C78617 OAE:0001408 a tumor AE that results in cancer in the small intestine SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/small+intestine+cancer 10054184 small intestine carcinoma AE OAE:0001409 a gastrointestinal disorder AE that results in an ulcer in the patient's small intestine SZ, SS, YH 10041133 small intestine ulcer AE CTCAE: E11038 NCIt: C78619 OAE:0001410 a connective tissue disorder AE that occurs in the non-skeletal tissue, usually subcutaneous and muscle tissue SZ, SS, YH WEB: http://www.reference.md/files/D018/mD018461.html 10062255 soft tissue infection soft tissue infection AE CTCAE: E11579 HPO: HP_0002719 NCIt: C79745 SIDER: C0149778 OAE:0001411 a connective tissue disorder AE that results in damage to muscles, ligaments, and tendons throughout the body SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/22964676 10041291 soft tissue injury AE OAE:0001412 a necrosis AE that results in necrosis occurring in soft tissue SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/necrosis 10065769 soft tissue necrosis AE OAE:0001413 a behavior and neurological AE that results in the patient hvings a mental disorder with symptoms that may suggest physical illness or injury SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/somatoform+disorder 10054153 somatoform disorder AE OAE:0001414 a bone disorder AE that has an outcome of vertebra collapse caused by small hairline fractures SZ, SS, YH WEB: http://www.webmd.com/osteoporosis/guide/spinal-compression-fractures-causes 10041541 spinal compression fracture AE OAE:0001415 a nervious system AE that has an outcome of spinal cord compressed by bone fragments from a vertebral fracture, a tumor, abscess, ruptured intervertebral disc or other lesion SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/spinal+cord+compression 10041549 spinal cord compression AE HPO: HP_0002176 SIDER: C0037926 OAE:0001416 Tumor AE that results in a tumor in the patient's spinal cord SZ, SS, YH 10062261 spinal cord neoplasm AE OAE:0001417 Spinal osteoarthritis AE is a osteoarthritis AE that has an outcome of degeneration of the protective cartilage that cushions the tops of bones, causes swelling and pain and may cause development of osteophytes. SZ, SS, YH WEB: http://www.webmd.com/osteoarthritis/guide/spinal-osteoarthritis-degenerative-arthritis-of-the-spine 10041591 spinal osteoarthritis AE HPO: HP_0002758 SIDER: C0949690 OAE:0001418 an immune system disorder AE that has an outcome of a larger-than-normal spleen, affects blood filtration SZ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/003276.htm 10041660 splenomegaly AE HPO: HP_0001744 SIDER: C0038002 OAE:0001419 a microbiology and serology investigation result abnormal AE that has an outcome of bacterial infection in the lungs or breathing passages SZ, SS, YH, EB WEB: http://www.webmd.com/lung/sputum-culture 10051612 sputum culture positive AE OAE:0001420 a respiratory system AE that shows increased sputum, which results in mucous material coughed up from the lungs by the patient. SZ, SS, YH WEB: http://www.medterms.com/script/main/art.asp?articlekey=5539 10041812 sputum increased AE HPO: HP_0002105 SIDER: C0235567 OAE:0001421 a skin AE that has an outcome of a type of nonmelanoma skin cancer SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001832/ 10041823 squamous cell carcinoma AE HPO: HP_0006739 SIDER: C0007137 OAE:0001422 a bacterial infection AE that has an outcome of invasion by Staphylococcus, can present with pus, fever, chills and low blood pressure SZ, SS, YH WEB: http://www.medicinenet.com/staph_infection/page2.htm 10058080 staphylococcal infection AE HPO: HP_0007499 SIDER: C0038160 OAE:0001423 a skin AE that results in the skin in the leg undergoing discoloration due to blood pooling as a result of insufficient venous return SZ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/000834.htm 10041955 stasis dermatitis AE OAE:0001424 a device occlusion AE that has an outcome of blockage of the stent, or a tube inserted into body to prevent or counteract a disease-induced, localized flow constriction SZ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/002303.htm 10049936 stent occlusion AE OAE:0001425 a skin adverse event that is characterized by cell death causing the epidermis to separate from the dermis SZ, SS, YH, MW WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001854/ 10042033 stevens-johnson syndrome AE CTCAE:E13736 HPO: HP_0000951 NCIt:C79484 SIDER: C0038325 OAE:0001426 a stress AE that results in patient experiencing stress at work SZ, SS, YH 10042210 stress at work AE OAE:0001428 a nervous system AE that has an outcome of bleeding in the area between the brain and the thin tissues that cover the brain SZ, SS, YH subarachnoid haemorrhage AE WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001720/ 10042316 subarachnoid hemorrhage AE HPO: HP_0002138 SIDER: C0038525 OAE:0001429 a nervous system AE that has an outcome of a collection of blood on the surface of the brain SZ, SS, YH subdural haematoma AE WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001732/ 10042361 subdural hematoma AE HPO: HP_0100309 SIDER: C0018946 OAE:0001430 A gastrointestinal hemorrhage AE that has an outcome of the bleeding in the stomach YH, SS gastric haemorrhage AE 10017788 10017789 gastric hemorrhage AE CTCAE: E10706 NCIt: C54582 OAE:0001431 a death AE that has an outcome of unexpected death, 1 to 24 hours after the onset of symptoms SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/sudden+death 10042434 10042435 sudden death AE CTCAE: E11171 HPO: HP_0001645 NCIt: C50911 SIDER: C0011071 OAE:0001432 a psychiatric disorder AE that results in thoughts about suicide SZ, SS, YH, MW WEB: Primary Source: http://medical-dictionary.thefreedictionary.com/Suicidal+ideation Secondary Source: http://www.ncbi.nlm.nih.gov/pubmed/10193592 10042458 suicidal ideation AE CTCAE:E12964 NCIt:C80102 OAE:0001433 a psychiatric disorder AE that results in attempted suicide SZ, SS, YH, MW 10042464 suicide attempt AE CTCAE:E12969 HPO: HP_0000708 NCIt:C80111 SIDER: C0038663 OAE:0001434 a viral infection AE that has an outcome of a cell that was previously infected being coinfected with a different strain of the virus SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/superinfection 10042566 superinfection AE HPO: HP_0005364 SIDER: C0038826 OAE:0001435 a venous thrombosis AE in which a stroke occurs as a result of thrombosis. uncommon cerebrovascular accident that is frequently associated with diseases that may contribute to the development of thrombosis through hypercoagulability, stasis of the local blood stream, and abnormalities of the vessel wall. SZ, SS, YH SSST WEB: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1026412 WEB: http://www.ncbi.nlm.nih.gov/pubmed/1455986 10042567 superior sagittal sinus thrombosis AE OAE:0001436 an arrhythmia AE that has an outcome of premature atrial contractions or beats caused by signals originating from ectopic atrial sites SZ, SS, YH WEB: http://sideeffects.embl.de/se/C0033036/ 10042602 supraventricular extrasystoles AE HPO: HP_0005115 SIDER: C0033036 OAE:0001437 a tachycardia AE that has an outcome of rapid heart rhythm originating at or above the atrioventricular node SZ, SS, YH WEB: Primary Source: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001235/ Secondary Source: http://www.ncbi.nlm.nih.gov/pubmed/23233691 10042604 supraventricular tachycardia AE CTCAE: E10218 HPO: HP_0004765 NCIt: C35061 SIDER: C0039240 OAE:0001438 Adverse event that is characterized by the patient becoming increasingly suspicious SZ, SS, YH 10042635 suspiciousness AE OAE:0001439 an injury and procedural complication AE that results in a complication resulting from a suture SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/17276274 10059059 suture related complication AE OAE:0001440 a surgery AE that results in a suture being used to hold body tissues together, ruptures SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/21266279 10048547 suture rupture AE OAE:0001441 an increased heartbeat AE that is characterized by a distburance of the heart rhythm in which heart rate is abnormally increased SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/tachyarrhythmia 10049447 tachyarrhythmia AE HPO: HP_0001649 SIDER: C0080203 OAE:0001442 a tachycardia AE that results in tachycardia beginings and ending in an acute manner SZ, SS, YH WEB: Primary Source: http://www.ncbi.nlm.nih.gov/pubmed/11208235 Secondary Source: http://www.nlm.nih.gov/medlineplus/ency/article/000183.htm 10043079 tachycardia paroxysmal AE OAE:0001443 an abnormal repiration AE that shows an outcome of tachypnoea (i.e., abnormally rapid breathing or respiration) SZ, SS, YH tachypnoea AE 10043089 tachypnea AE HPO: HP_0004346 SIDER: C0231835 OAE:0001445 Behavior and neurological AE that results in the patient having recurring seizures SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001714/ 10043209 temporal lobe epilepsy AE OAE:0001446 An immune system disorder AE that is a complication that can occur after a stem or bone marrow transplant in which the newly transplanted donor cells attack the transplant recipient's body YH, SS GVHD WEB: http://www.nlm.nih.gov/medlineplus/ency/article/001309.htm 10018651 graft versus host disease AE OAE:0001447 a hematopoietic system AE that has an outcome of too many blood platelets or thrombocytes, can result in headache, lightheadedness, vision changes and limb numbness SZ, SS, YH thrombocythaemia AE WEB: http://www.mayoclinic.com/health/thrombocythemia/DS01087 10015493 thrombocythemia AE OAE:0001448 a hematopoietic system AE that has an outcome of decrease in platelets in the blood SZ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/000586.htm 10043554 thrombocytopenia AE HPO: HP_0001873 SIDER: C0040034 OAE:0001449 a phlebitis AE located in the vein, caused by a blood clot SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002098/ WEB: http://www.nlm.nih.gov/medlineplus/ency/article/001108.htm 10043570 thrombophlebitis AE HPO: HP_0004418 SIDER: C0040046 OAE:0001450 a thrombosis AE that is characterized by a pathological process involving thrombocytopenia, microangiopathic haemolytic anaemia and microvascular occlusion SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/22802583 WEB: Primary Source: http://www.ncbi.nlm.nih.gov/pubmed/18215115 Secondary Source: http://www.nejm.org/doi/full/10.1056/NEJMra020528 10043645 thrombotic microangiopathy AE HPO: HP_0002597 SIDER: C2717961 OAE:0001451 a tumor AE that results in a benign tumor in the thyroid SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0004524/ 10043688 thyroid adenoma AE HPO: HP_0000854 SIDER: C0151468 OAE:0001452 a tumor AE that results in the patient hvings a mass growing in their thyroid SZ, SS, YH 10058900 thyroid mass AE OAE:0001453 an arrhythmia AE that has an outcome of an irregular rate of the heartbeat YH, SS 10019304 heart rate irregular AE HPO: HP_0011675 SIDER: C0237314 OAE:0001454 a syndrome AE that results in the patient suffering from withdrawal from not using tobacco SZ, SS, YH 10059612 tobacco withdrawal symptoms AE OAE:0001455 a tongue AE that has an outcome of open sores or cuts on the tongue SZ, SS, YH WEB: http://www.localhealth.com/article/tongue-ulcers 10043991 tongue ulceration AE HPO: HP_0000155 SIDER: C0235351 OAE:0001456 Tumor AE that results in cancer in the patient's tonsils SZ, SS, YH 10044002 tonsil cancer AE OAE:0001457 a bone disorder AE that has an outcome of an abscess located in the tooth or a bacterial infection in the center of a tooth SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002055/ 10044016 tooth abscess AE HPO: HP_0000164 SIDER: C0518988 OAE:0001458 a bone disorder AE that has an outcome of disease in the teeth SZ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/toothdisorders.html 10044034 tooth disorder AE HPO: HP_0000164 SIDER: C0040435 OAE:0001459 a bone disorder AE that has an outcome of a break or rupture in a bone SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/tooth+fracture 10062544 tooth fracture AE OAE:0001460 a bone disorder AE that has an outcome of one or more teeth coming loose and falling out SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/23253824 10044044 tooth loss AE HPO: HP_0006349 SIDER: C0080233 OAE:0001461 a bone disorder AE that has an outcome of an aching pain in or around a tooth SZ, SS, YH odontalgia AE WEB: Primary Source: http://medical-dictionary.thefreedictionary.com/toothache Seconday Source: http://www.ncbi.nlm.nih.gov/pubmed/22157099 10044055 toothache AE CTCAE: E11054 HPO: HP_0000164 NCIt: C78640 SIDER: C0040460 OAE:0001462 a endocrine system AE that has an outcome of an excess production of thryoid hormone, characterized by functionally autonomous nodules SZ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/000317.htm 10044242 toxic nodular goitre AE OAE:0001463 A liver AE that has an outcome of an abnormal functionality of the liver YH, SS hepatic function abnormal AE HPO: HP_0001410 SIDER: C0086565 OAE:0001464 a respiratory system AE that results in the trachea being infected by a bacteria SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001983/ 10044302 10066798 tracheitis AE CTCAE: E11599 NCIt: C78647 OAE:0001465 a respiratory system AE that is characterized by the inflammation of the muscous membranes of the trachea and bronchi SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/tracheobronchitis 10044314 tracheobronchitis AE HPO: HP_0002837 SIDER: C0040586 OAE:0001466 a behavior and neurological AEthat results in the patient being in a state of trance SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/trance 10044334 trance AE OAE:0001467 a transaminase level abnormal AE that has an outcome of elevated levels of alanine transaminase and aspartate transaminase SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/Transaminases 10054889 transaminase level increased AE OAE:0001468 A cardiomyopathy AE that has an outcome of a condition in which the heart muscle becomes thick. Often, only one part of the heart is thicker than the other parts. The thickening can make it harder for blood to leave the heart, forcing the heart to work harder to pump blood. It also can make it harder for the heart to relax and fill with blood. YH, SS HCM WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001243/ 10020871 hypertrophic cardiomyopathy AE HPO: HP_0001639 SIDER: C0007194 OAE:0001469 a vascular disorder AE that results in an abnormal spatial arrangement of any of the primary blood vessels SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002535/ 10044443 transposition of the great vessels AE OAE:0001470 a blood chloride abnormal AE that is characterized by an abnormally high level of chloride in the blood YH, MW 10020599 hyperchloremia AE UMLS CUI: C0085679 OAE:0001471 a cardiac valve disease AE that is characterized by a tricuspid valve that does not close tightly enough to prevent leakage SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/Tricuspid+Valve+Insufficiency 10044640 tricuspid valve incompetence AE OAE:0001472 a tri-iodothyronine level abnormal AE that results in a decreased level of tri-iodothyronine SZ, SS, YH, EB WEB: http://medical-dictionary.thefreedictionary.com/Tri-iodothyronine 10044594 tri-iodothyronine decreased AE OAE:0001473 a troponin level abnormal AE that has an outcome of an increased amount of troponin, a protein released when the heart muscle is damaged SZ, SS, YH, EB WEB: http://www.nlm.nih.gov/medlineplus/ency/article/007452.htm 10058267 troponin level increased AE OAE:0001474 a bacterial infection AE that is caused by M. tuberculosis. SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001141/ 10044755 tuberculosis AE OAE:0001476 Tumor AE that results in a tumor reoccurring SZ, SS, YH tumour flare AE WEB: http://www.ncbi.nlm.nih.gov/pubmed/21523725 10045169 tumor flare AE OAE:0001477 an hemorrhage AE that has an outcome of bleeding in the tumour SZ, SS, YH tumour haemorrhage AE WEB: http://calder.med.miami.edu/pointis/tbifam/cause3.html 10049750 tumour hemorrhage AE OAE:0001478 a syndrome AE that has an outcome of a group of metabolic complications that can occur after treatment of cancer SZ, SS, YH tumour lysis syndrome AE WEB: http://www.ncbi.nlm.nih.gov/pubmed/15384972 10045152 10045170 tumor lysis syndrome AE CTCAE: E12365 NCIt: C3425 OAE:0001479 a cytogenetic investigation result abnormal AE that has an outcome of an increase in a substance found in the blood, urine, or body tissues that can be elevated in cancer, among other tissue types SZ, SS, YH, EB tumour marker increased AE WEB: http://www.cancer.gov/cancertopics/factsheet/detection/tumor-markers 10048621 tumor marker increased AE OAE:0001480 a necrosis AE that has an outcome of death of tumor tissue, tumor rapidly outgrows its blood supply SZ, SS, YH tumour necrosis AE WEB: http://medical-dictionary.thefreedictionary.com/tumor+necrosis 10054094 tumor necrosis AE OAE:0001481 a keratitis AE that has an outcome of disrupted epithelial layer and stroma of the cornea, may become blind SZ, SS, YH corneal ulcer AE WEB: http://medical-dictionary.thefreedictionary.com/Ulcerative+keratitis 10064996 ulcerative keratitis AE HPO: HP_0007812 SIDER: C0010043 OAE:0001482 Homeostasis AE that results in an inability to achieve adequate fluid balance SZ, SS, YH 10069568 ultrafiltration failure AE OAE:0001483 Respiratory system AE that is characterized by the patient having an obstruction in their upper airway SZ, SS, YH 10067775 upper airway obstruction AE HPO: HP_0002781 SIDER: C0740852 OAE:0001484 a gastrointestinal hemorrhage AE that has an outcome of bleeding in the upper gastrointestinal tract SZ, SS, YH upper gastrointestinal haemorrhage AE WEB: Primary Source: http://medical-dictionary.thefreedictionary.com/gastrointestinal+bleeding Secondary Source: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1237869/ 10046274 10055356 upper gastrointestinal hemorrhage AE CTCAE: E11062 HPO: HP_0002239 NCIt: C78660 SIDER: C0041909 OAE:0001485 a urinary system AE that has an outcome of a blockage in the urinary tract, can result in pain, fever, infection, loss of kidney function, sepsis or death if severe SZ, SS, YH WEB: http://www.mayoclinic.org/ureteral-obstruction/ 10046406 ureteric obstruction AE HPO: HP_0006000 SIDER: C0041956 OAE:0001486 Urinary system AE that results in the urethra becoming obstructed SZ, SS, YH 10046459 urethral obstruction AE HPO: HP_0000796 SIDER: C0041972 OAE:0001487 Urinary System AE that results in the urethra becoming narrowed at the external meatus SZ, SS, YH WEB: Primary Source: http://medical-dictionary.thefreedictionary.com/urethral+meatal+stenosis Secondary Source: http://www.ncbi.nlm.nih.gov/pubmed/22710090 10065584 urethral stenosis AE OAE:0001488 a urinary incontinence AE that results in the patient feeling a sudden urgency or need to urinate. SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002250/ 10046494 urge incontinence AE HPO: HP_0000012 SIDER: C0150045 OAE:0001489 Urinary system AE that results in an inability to urinate SZ, SS, YH, MW WEB: Primary Source: http://medical-dictionary.thefreedictionary.com/urinary+retention Secondary Source: http://www.medtronic.com/patients/urinary-retention/index.htm 10046555 urinary retention AE CTCAE:E13046 HPO: HP_0000016 NCIt:C50790 SIDER: C0080274 OAE:0001490 a urinary tract infection AE that results in the infection of the urinary tract by the Pseudomonas Aeruginosa organism SZ, SS, YH WEB: http://www.jiph.org/article/S1876-0341(09)00058-6/abstract 10062279 urinary tract infection pseudomonal AE OAE:0001491 a urinary tract infection AE that results in the urinary tract being infected with the staphylococcal bacteria SZ, SS, YH 10062280 urinary tract infection staphylococcal AE OAE:0001492 a toxicology drug screen result abnormal AE that results in a positive result for amphetamines in the urine SZ, SS, YH, EB 10051400 urine amphetamine positive AE OAE:0001493 a urine abnormality AE that has an outcome of decreased urine output, less than 500 milliliters of urine in 24 hours SZ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/003147.htm 10059895 urine output decreased AE CTCAE: E12217 NCIt: C80522 OAE:0001494 a urinary system AE caused by an infection in the urinary tract that has an outcome of accumulation of pus-forming bacteria or toxins in the blood of the urinary tract. SZ, SS, YH WEB: http://www.primehealthchannel.com/urosepsis-definition-symptoms-causes-diagnosis-and-treatment.html 10048709 urosepsis AE OAE:0001495 an urticaria AE that results in the appearance of "wheals" on skin SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/papular+urticaria 10046750 urticaria papular AE OAE:0001496 a uterine AE that results in uterine contractions during pregnancy SZ, SS, YH 10049975 uterine contractions during pregnancy AE OAE:0001497 a uterine AE that has an outcome of bleeding from the uterus MedDRA: 10046788 is for "uterine haemorrhage"; MedDRA: 10046789 is for "uterine hemorrhage" SZ, SS, YH, MW uterine haemorrhage AE 10046788 10046789 uterine hemorrhage AE CTCAE: E13237 HPO: HP_0000130 NCIt: C78686 SIDER: C0042134 OAE:0001498 a uterine AE that results in the patient undergoing a single uterine contraction for over two minutes during pregnancy SZ, SS, YH WEB: Primary Source: http://www.ncbi.nlm.nih.gov/pubmed/12192488 Secondary Source: http://www.ncbi.nlm.nih.gov/pubmed/12192488 10046790 uterine hypertonus AE HPO: HP_0000130 SIDER: C0269842 OAE:0001499 an infection AE that results in infection of the vagina SZ, SS, YH 10046914 vaginal infection AE CTCAE: E11624 HPO: HP_0000142 NCIt: C26911 SIDER: C0404521 OAE:0001500 a digestive system AE that has an outcome of dilated sub-mucosal veins in the lower third of the esophagus SZ, SS, YH varices oesophageal AE WEB: http://www.mayoclinic.com/health/esophageal-varices/DS00820 10056091 varices esophageal AE HPO: HP_0002040 SIDER: C0014867 OAE:0001501 a dementia AE that results in problems with reasoning, judgement, and memory resulting from brain damage from impaired blood flow to the brain SZ, SS, YH WEB: http://www.mayoclinic.com/health/vascular-dementia/DS00934 10057678 vascular dementia AE OAE:0001502 a vascular disorder AE that results in the veins becoming discoloured SZ, SS, YH vein discolouration AE 10047183 vein discoloration AE OAE:0001503 a thrombosis AE that has an outcome of a blood clot in the inferior vena cava SZ, SS, YH vena cava embolism AE WEB: http://emedicine.medscape.com/article/1933035-overview, http://www.nlm.nih.gov/medlineplus/ency/article/000156.htm 10047193 10047195 vena cava thrombosis AE OAE:0001504 a vascular disorder AE that results in an injury to the vein(s) SZ, SS, YH 10047228 venous injury AE CTCAE: E12051 NCIt: C78711 OAE:0001505 a thrombosis AE that has an outcome of a blood clot that forms within a vein SZ, SS, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/000156.htm 10047249 venous thrombosis AE HPO: HP_0004850 SIDER: C0042487 OAE:0001506 a cardiac ventricular disorder AE that has an outcome of an abnormality in the contraction of the ventricles or the motion of the cells SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/ventricular+dysfunction 10059056 ventricular dysfunction AE OAE:0001508 an ear disorder that results in irritation and swelling (inflammation) of the inner ear SZ, SS, YH lybyrinthitis AE WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002049/ 10047393 vestibular neuronitis AE OAE:0001509 an abnormal vision AE that results in unclear vision SZ, SS, YH blurred vision AE WEB: Primary Source: http://www.nlm.nih.gov/medlineplus/ency/article/003029.htm Secondary Source: http://www.ncbi.nlm.nih.gov/pubmed/23111613 10005886 10047513 vision blurred AE CTCAE: E10346 HPO: HP_0000622 NCIt: C27123 SIDER: C0344232 OAE:0001510 an abnormal vision AE that results in a decrease in clearness of vision SZ, SS, YH WEB: Primary Source: http://www.nlm.nih.gov/medlineplus/ency/article/003396.htm Secondary Source: http://www.ncbi.nlm.nih.gov/pubmed/23329671 10047531 visual acuity reduced AE HPO: HP_0000572 SIDER: C0234632 OAE:0001511 an abnormal vision AE that results in the patient suffering from an enhanced brightness in their vision SZ, SS, YH 10049155 visual brightness AE OAE:0001512 a gustatory system AE that has an outcome of a shortage of vitamin D which is essential for strong bones SZ, SS, YH WEB: http://www.webmd.com/diet/vitamin-d-deficiency 10047626 vitamin d deficiency AE HPO: HP_0100513 SIDER: C0042870 OAE:0001514 Inflammation AE that is characterized by an inflammatory reaction of the vitreous or hyaloid membrane as a result of disease in adjacent structures SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/vitritis 10047663 vitritis AE OAE:0001515 a physical examination result abnormal AE that shows an increase (gain) in weight of a patient SZ, SS, YH weight gain AE 10047896 10047899 weight increased AE CTCAE: E12224 HPO: HP_0004324 NCIt: C62754 SIDER: C0043094 OAE:0001516 a conduction system disorder AE that results in an abnormal accessory electrical conduction pathway between the atria and ventricles SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001206/ 10048015 wolff-parkinson-white syndrome AE CTCAE: E10244 NCIt: C35132 OAE:0001517 a wound AE that has an outcome of complication to the wound SZ, SS, YH WEB: https://en.wikipedia.org/wiki/Wound 10053692 wound complication AE CTCAE: E12057 NCIt: C78719 OAE:0001518 a wound AE that has an outcome of a wound breaking open along the surgical sutures SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/wound+dehiscence 10048031 wound dehiscence AE CTCAE: E12063 NCIt: C50863 OAE:0001519 A wound AE that has an outcome of secretions or pus produced by damaged tissue particles and repairing mechanisms intitiated by the body SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/2815962 10048629 wound secretion AE OAE:0001520 an abnormal vision AEthat results in the patient seeing a predominance of yellow in their vision SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/xanthopsia 10048216 xanthopsia AE HPO: HP_0000551 SIDER: C0221185 OAE:0001521 an immune system disorder AE that results in a fungal infection of the sinuses, brain, or lungs that occurs in some people with a weakened immune system SZ, SS, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001672/ 10061418 zygomycosis AE OAE:0001522 A cardiomyopathy AE that has an outcome of a heart failure with left ventricular dilatation resulting from ischemic heart disease. YH, SS ischaemic cardiomyopathy AE WEB: http://medical-dictionary.thefreedictionary.com/ischemic+cardiomyopathy 10048858 ischemic cardiomyopathy AE OAE:0001524 An adverse event that is a chronic neurological disorder caused by the brain's inability to regulate sleep-wake cycles normally. YL http://en.wikipedia.org/wiki/Narcolepsy YL narcolepsy AE OAE:0001526 An inflammation AE that has an outcome of tissue swelling and other inflammatory response in the mouth YH, SS oral mucositis 10028116 10028130 mucosal inflammation AE CTCAE: E10872 NCIt: C26887 OAE:0001527 A systematic adverse event that has an outcome of failure in mulitple organs YH, SS 10028154 multi-organ failure AE CTCAE: E11155 NCIt: C75568 OAE:0001528 Pleomorphic rash AE is rash AE that is a rash characterized by many-formed. JX, LW, YH 多形性皮疹 pleomorphic rash AE OAE:0001529 A bone disorder AE that has an outcome of the weakening or brittle bone YH, SS, MW WEB: http://www.mayoclinic.com/health/osteoporosis/DS00128 10031282 osteoporosis AE CTCAE:E12508 HPO: HP_0000939 NCIt:C3298 SIDER: C0029456 OAE:0001530 A groupd of disroders where the genetic susceptibility plays an important role to the seletctive susceptibility to poorly pathogenic mycobacterial species such as bacille Calmette-Guérin and environmental mycobacteria. MSMD http://www.ncbi.nlm.nih.gov/pubmed/20718793 YL Mendelian susceptibility to mycobacterial disease OAE:0001531 A cardiomyopathy AE that has an outcome of a condition that the heart cannot relax normally during the time between heartbeats when the blood returns from the body (diastole). YH, SS infiltrative cardiomyopathy WEB: http://www.nlm.nih.gov/medlineplus/ency/article/000189.htm 10038748 restrictive cardiomyopathy AE CTCAE: E10192 NCIt: C62798 OAE:0001535 A cardiomyopathy AE that is a temporary heart condition brought on by stressful situations, such as the death of a loved one. People with broken heart syndrome may have sudden chest pain or think they're having a heart attack. These broken heart syndrome symptoms may be brought on by the heart's reaction to a surge of stress hormones. In broken heart syndrome, a part of your heart temporarily enlarges and doesn't pump well, while the remainder of the heart functions normally or with even more forceful contractions. YH, SS takotsubo cardiomyopathy, broken heart syndrome, stress-induced cardiomyopathy, apical ballooning syndrome WEB: http://www.mayoclinic.com/health/broken-heart-syndrome/DS01135/METHOD=print 10066286 stress cardiomyopathy AE OAE:0001537 A skin adverse event that has an outcome of an eruption caused by ingestion, injection, inhalation, or insertion of a drug, often a result of allergic sensitization. Also called dermatitis medicamentosa, dermatosis medicamentosa, drug rash YH, SS dermatitis medicamentosa, dermatosis medicamentosa, drug rash WEB: http://medical-dictionary.thefreedictionary.com/drug+eruption 10057970 toxic skin eruption AE OAE:0001538 An arrythmia AE that has an outcome of a severely abnormal heart rhythm (arrhythmia) that can be life-threatening. YH, SS VF WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0004467/ 10047290 ventricular fibrillation AE CTCAE: E10236 HPO: HP_0001663 NCIt: C50799 SIDER: C0042510 OAE:0001539 an atrioventricular block AE that there is some prolongation of AV conduction time (PR interval). The heart's electrical signals are slowed as they move from the atria to the ventricles (the heart's upper and lower chambers, respectively). This results in a longer, flatter line between the P and the R waves on the EKG (electrocardiogram). SS atrioventricular block first degree first degree heart block WEB: http://www.medilexicon.com/medicaldictionary.php?t=10751 WEB: http://www.nhlbi.nih.gov/health//dci/Diseases/hb/hb_types.html 10003674 first degree atrioventricular block AE CTCAE: E10098 NCIt: C62015 OAE:0001541 A thyroiditis AE that shows a self-limited thyroid condition associated with a triphasic clinical course of hyperthyroidism, hypothyroidism, and return to normal thyroid function. YL, YH SAT painless thyroiditis AE silent thyroiditis AE http://emedicine.medscape.com/article/125648-overview https://en.wikipedia.org/wiki/Subacute_lymphocytic_thyroiditis subacute thyroiditis AE OAE:0001542 Macrophagic myofasciitis (MMF) is a rare inflammatory muscle disorder characterized by a characteristic infiltration of muscle tissue by PAS-positive macrophages, which is caused by pathological persistence of vaccine-derived aluminium hydroxide. The diagnosis can only be established by an open muscle biopsy from the muscle that was used for intramuscular vaccination. YL MMF http://www.ncbi.nlm.nih.gov/pubmed/14593574 YL macrophagic myofasciitis AE OAE:0001543 BCG infection following BCG injection. It is often related with the vaccinee's immunodeficiency. YL YL disseminated BCG infection AE OAE:0001544 An adverse event that is a disorder of neural development characterized by impaired social interaction and communication, and by restricted and repetitive behavior. YL http://en.wikipedia.org/wiki/Autism autism AE HPO: HP_0000717 SIDER: C0004352 OAE:0001545 an adverse event that is a type of encephalitis triggered by vaccination. Autoimmune Encephalitis may be triggered by infection in which case the term "Post-infectious Encephalitis" is used. ADEM( Acute Disseminated Encephalomyelitis ) is a Post-infectious Encephalitis. The illness usually follows in the wake of a mild viral infection (such as those that cause rashes in childhood) or immunisations. Typically there is a delay of days to two to three weeks between the triggering infection and development of the encephalitis. It has recently been recognised that there are other types of Autoimmune Encephalitis resulting from an attack of the brain by the body's immune system. Some of these types of autoimmune encephalitis are identified by finding a specific antibody in blood. These conditions include Potassium channel complex antibody associated encephalitis, NMDAR and Hashimoto's encephalitis. http://www.encephalitis.info/information/the-illness/types-of-autoimmune-encephalitis/ YL autoimmune encephalitis AE OAE:0001546 an injection-site AE that display an redness in the injection-site YH injection-site redness AE OAE:0001547 a sensory capability AE that shows up skin tenderness and occurs in an injection site of a medical intervention YH 10043224 injection-site tenderness AE OAE:0001548 YH a movement disorder AE that has an outcome of arm motion limitation arm motion limitation AE OAE:0001549 a sensory capability AE that shows up muscular soreness at the injection site of a medical intervention YH 10028332 injection-site muscular soreness AE OAE:0001550 a sleep disorder AE that shows up sleepiness (Sluggish from sleep, inactive, quiet). YH 10041014 sleepiness AE OAE:0001551 an adverse event that occurs in brain. YH brain disorder AE brain AE OAE:0001552 a hypersensitivity AE that is mild. YH mild hypersensitivity AE OAE:0001553 YH an injection-site edema AE that occurs in the arm. injection-site arm edema AE OAE:0001554 a psychiatric disorder AE that shows restlessness YH, MW WEB: http://dictionary.reference.com/browse/restlessness 10038743 restlessness AE CTCAE:E12960 NCIt:C74533 UMLS_CUI: C0085631 OAE:0001555 a sensory capability AE that results in a sensation of induration with tenderness. YH induration with tenderness AE OAE:0001556 a sensory capability AE that results in a sensation of fussiness YH fussiness AE OAE:0001557 a sleep disorder AE that shows decreased sleep YH decreased sleep AE OAE:0001558 a sleep disorder AE that shows increased sleep YH increased sleep AE OAE:0001559 a pain AE that occurs at a joint YH joint pain AE OAE:0001560 Tiredness AE is a sensory capability AE that results in a sensation of tiredness. This term appears to be a synonym to the 'fatigue AE'. JX, LW, YH hypodynamia AE 疲劳/乏力 10043890 tiredness AE OAE:0001561 nasal discomfort AE is a respiratory system AE that shows a discomfort from the nose YH nasal discomfort AE HPO: HP_0010640 SIDER: C0858259 OAE:0001567 an imaging investigation result abnormal AE that is indicated by an abnormal result of a procedure in which radio waves and a powerful magnet linked to a computer are used to create detailed pictures of areas inside the body EB 10029816 nuclear magnetic resonance imaging result abnormal AE OAE:0001568 a computerized tomography abnormal AE that is an imaging method that uses x-rays to create pictures of cross-sections of the body using a dye, called oral contrast, that shows up on the CT images to help better define internal organs EB computerised tomogram with contrast abnormal AE computerized tomogram with contrast abnormal AE OAE:0001569 a computerized tomography abnormal AE that is an imaging method that uses x-rays to create pictures of cross-sections of the body EB computerised tomogram without contrast abnormal AE computerized tomogram without contrast abnormal AE OAE:0001570 an investigation result abnormal AE that involves an abnormal result of an investigation involving the cardiovascular system EB, YH 10007512 cardiovascular investigation result abnormal AE OAE:0001571 an atrioventricular block AE that some but not all atrial impulses fail to reach the ventricles, thus some ventricular beats are dropped. Electrical signals between the atria and ventricles are slowed to a large degree. Some signals don't reach the ventricles. On an EKG, the pattern of QRS waves doesn't follow each P wave as it normally would. SS atrioventricular block second degree second degree heart block WEB: http://www.medilexicon.com/medicaldictionary.php?t=10751 WEB: http://www.nhlbi.nih.gov/health//dci/Diseases/hb/hb_types.html 10003677 second degree atrioventricular block AE OAE:0001572 a cardiac and vascular investigation result abnormal AE that is an abnormal result of a test that uses sound waves to create a moving picture of the heart EB 10061593 echocardiogram result abnormal AE OAE:0001573 an investigation result abnormal AE that involves an abnormal electrolyte value EB 10047843 electrolyte lab test abnormal AE OAE:0001574 an electrolyte lab test abnormal AE that shows an abnormal blood phosphorus level EB 10054823 blood phosphorus abnormal AE OAE:0001576 an atrioventricular block AE that complete atrioventricular dissociation occurs; atria and ventricles beat independently. None of the electrical signals reach the ventricles. This type also is called complete heart block or complete AV block. When complete heart block occurs, special areas in the ventricles may create electrical signals to cause the ventricles to contract. This natural backup system is slower than the normal heart rate and isn't coordinated with the contraction of the atria. On an EKG, the normal pattern is disrupted. The P waves occur at a faster rate that isn't coordinated with the QRS waves. SS atrioventricular block complete complete heart block third degree atrioventricular block third degree heart block WEB: http://www.medilexicon.com/medicaldictionary.php?t=10751 WEB: http://www.nhlbi.nih.gov/health//dci/Diseases/hb/hb_types.html 10003673 complete atrioventricular block AE CTCAE: E10093 NCIt: C50501 OAE:0001577 an electrolyte lab test abnormal AE that results in an abnormal level of potassium in the blood EB 10005722 blood potassium abnormal AE HPO: HP_0011042 SIDER: C0853759 OAE:0001579 an electrolyte lab test abnormal AE that results in an abnormal level of sodium in the blood EB 10005800 blood sodium abnormal AE OAE:0001581 an electrolyte lab test abnormal AE that results in an abnormal level of magnesium in the blood EB 10005652 blood magnesium abnormal AE OAE:0001583 an electrolyte lab test abnormal AE that results in an abnormal level of chloride in the blood EB 10005417 blood chloride abnormal AE OAE:0001585 an electrolyte lab test abnormal AE that results in an abnormal level of calcium in the blood EB 10005393 blood calcium abnormal AE OAE:0001587 an investigation result abnormal AE that involves the renal and urinary tract and urinalyses EB, YH renal and urinary tract investigation and urinalysis result abnormal AE renal system investigation result abnormal AE 10038362 urinary system investigation result abnormal AE OAE:0001588 a urinary system investigation result abnormal AE that is characterized by an abnormal level of creatinine in the blood EB 10005481 blood creatinine level abnormal AE OAE:0001589 a urinary system investigation result abnormal AE that is characterized by an abnormal level of urea in the blood EB 10005846 blood urea level abnormal AE OAE:0001590 an investigation result abnormal AE that involves an abnormal result of a lipid analyses EB 10024580 lipid analysis result abnormal AE OAE:0001591 a lipid analysis result abnormal AE that results in an abnormal blood cholesterol level EB 10005423 blood cholesterol abnormal AE OAE:0001592 a blood cholesterol abnormal AE that results in a decreased amount of cholesterol in the blood EB 10005424 blood cholesterol decreased AE OAE:0001593 a lipid analysis result abnormal AE that is characterized by an abnormal amount of high density lipoprotein EB 10020051 high density lipoprotein abnormal AE OAE:0001594 a high density lipoprotein abnormal AE that is characterized by an increased amount of high density lipoprotein EB 10020061 high density lipoprotein increased AE OAE:0001595 a high density lipoprotein abnormal AE that is characterized by a decreased amount of high density lipoprotein EB 10020060 high density lipoprotein decreased AE HPO: HP_0003233 SIDER: C0151691 OAE:0001596 a lipid analysis result abnormal AE that is characterized by an abnormal amount of low density lipoprotein EB 10024901 low density lipoprotein abnormal AE OAE:0001597 a low density lipoprotein abnormal AE that is characterized by an increased amount of low density lipoprotein EB 10024910 low density lipoprotein increased AE HPO: HP_0003141 SIDER: C0549399 OAE:0001598 a low density lipoprotein abnormal AE that is characterized by a decreased amount of low density lipoprotein EB 10024909 low density lipoprotein decreased AE OAE:0001599 a lipid analysis result abnormal AE that is characterized by an abnormal amount of triglycerides in the blood EB 10005837 blood triglycerides abnormal AE OAE:0001600 a blood triglycerides abnormal AE that is characterized by an increased amount of triglycerides in the blood EB 10005839 blood triglycerides increased AE HPO: HP_0002155 SIDER: C0853692 OAE:0001601 a blood triglycerides abnormal AE that is characterized by a decreased amount of triglycerides in the blood EB 10005838 blood triglycerides decreased AE OAE:0001602 an investigation result abnormal AE that involves an abnormal result for an immunology and allergy investigation EB 10021505 immunology and allergy investigation result abnormal AE OAE:0001603 a second degree atrioventricular block AE that the electrical signals are delayed more and more with each heartbeat, until the heart skips a beat. On the EKG, the delay is shown as a line (called the PR interval) between the P and QRS waves. The line gets longer and longer until the QRS waves don't follow the next P wave. MedDRA: 10050797 is a LLT for type I second degree atrioventricular block MedDRA (LLT): 10047909 exists for Wenckebach phenomeono MedDRA (LLT): 10047908 exists for Wenchebach MedDRA (LLT): 10027787 for Mobit type I SS, MW, YH Mobitz type 1 block Wenckebach Phenomenon Wenckebach's block type 1 second degree atrioventricular block type I second degree atrioventricular block WEB: https://www.nhlbi.nih.gov/health/health-topics/topics/hb/types 10027787 10047908 10047909 10050797 Mobitz type I block AE CTCAE: E10146 NCIt: C62017 OAE:0001604 an immunology and allergy investigation result abnormal AE that is characterized by antibodies for epstein barr virus being detected EB 10056906 Epstein-Barr virus antibody positive AE OAE:0001605 an immunology and allergy investigations result abnormal AE that is characterized by an abnormal microbiology and serology investigation EB 10027529 microbiology and serology investigation result abnormal AE OAE:0001606 a microbiology and serology investigation result abnormal AE that is characterized by a positive CSF culture EB 10011529 CSF culture positive AE OAE:0001607 an investigation result abnormal AE that involves an abnormal result of a metabolic and nutritional investigation EB 10027432 metabolic and nutritional investigation result abnormal AE OAE:0001608 a metabolic and nutritional investigation result abnormal AE that is charaterized by an abnormal glycosylated hemoglobin level EB 10055587 glycosylated hemoglobin level abnormal AE OAE:0001609 a glycosylated hemoglobin level abnormal AE that is charaterized by an increased glycosylated hemoglobin level EB 10055587 glycosylated hemoglobin level increased AE OAE:0001610 a metabolic and nutritional investigation result abnormal AE that is charaterized by an abnormal blood folate level EB 10005525 blood folate level abnormal AE OAE:0001611 a blood folate abnormal AE that is charaterized by an increased blood folate level EB 10005528 blood folate level increased AE OAE:0001612 a metabolic and nutritional investigation result abnormal AE that is charaterized by an abnormal blood glucose level EB 10005554 blood glucose level abnormal AE OAE:0001613 a metabolic and nutritional investigation result abnormal AE that is charaterized by an abnormal blood homocysteine EB 10049735 blood homocysteine level abnormal AE OAE:0001614 a blood homocysteine level abnormal AE that is charaterized by a decreased blood homocysteine EB 10049734 blood homocysteine level decreased AE OAE:0001615 a metabolic and nutritional investigation result abnormal AE that is charaterized by an abnormal blood uric acid level EB 10061727 blood uric acid level abnormal AE OAE:0001616 a blood uric acid level abnormal AE that is characterized by a decreased blood uric acid EB 10005860 blood uric acid level decreased AE OAE:0001617 a metabolic and nutritional investigation result abnormal AE that is charaterized by an abnormal vitamin B12 level EB 10062187 vitamin B12 level abnormal AE OAE:0001618 a vitamin B12 level abnormal AE that is characterized by an increased vitamin B12 level EB 10047610 vitamin B12 level increased AE OAE:0001619 a vitamin B12 level abnormal AE that is characterized by a decreased vitamin B12 level EB 10047608 vitamin B12 level decreased AE OAE:0001620 a metabolic and nutritional investigation result abnormal AE that is charaterized by an abnormal brain natriuretic peptide level EB 10053408 brain natriuretic peptide level abnormal AE OAE:0001621 a brain natriuretic peptide level abnormal AE that is characterized by an increased brain natriuretic peptide level EB 10053405 brain natriuretic peptide level increased AE OAE:0001622 a brain natriuretic peptide level abnormal AE that is characterized by a decreased brain natriuretic peptide level EB 10053407 brain natriuretic peptide level decreased AE OAE:0001623 a hematology investigation result abnormal AE that involves an abnormal result of the oxygen and carbon dioxide content of arterial blood, measured by various methods to assess the adequacy of ventilation and oxygenation and the acid-base status of the body EB, SJ WEB: http://medical-dictionary.thefreedictionary.com/arterial+blood+gas WEB: http://www.nlm.nih.gov/medlineplus/ency/article/003855.htm 10005539 10027432 blood gases abnormal AE may be a result of lung, kidney, or metablolic diseases or the result of abnormal breathing after a head or neck injur blood gas investigation result abnormal AE OAE:0001624 a blood gas investigation result abnormal AE that is characterized by an abnormal amount of carbon dioxide in the blood EB WEB: http://www.nlm.nih.gov/medlineplus/ency/article/003469.htm 10064156 carbon dioxide abnormal AE OAE:0001625 a carbon dioxide abnormal AE that is characterized by an increased carbon dioxide level in the blood EB 10007225 carbon dioxide increased AE HPO: HP_0005972 SIDER: C0860713 OAE:0001626 a blood gas investigation result abnormal AE that is characterized by an abnormal acidity or alkalinity of blood EB WEB: http://www.medterms.com/script/main/art.asp?articlekey=10001 10005705 blood pH abnormal AE OAE:0001627 a blood pH abnormal AE that is characterized by an increased blood pH EB 10005708 blood pH increased AE OAE:0001628 a blood pH abnormal AE that is characterized by a decreased blood pH EB 10005706 blood pH decreased AE OAE:0001630 a blood gas investigation result abnormal AE that is characterized by an abnormal oxygen saturation in the blood EB 10033317 oxygen saturation abnormal AE OAE:0001631 an oxygen saturation abnormal AE that is characterized by an increased percentage of hemoglobin binding sites in the bloodstream occupied by oxygen EB 10033320 oxygen saturation increased AE OAE:0001632 a blood gas investigation result abnormal AE that is characterized by an abnormal carbon dioxide partial pressure or tension in the blood EB WEB: http://medical-dictionary.thefreedictionary.com/PCO2 10058982 PCO2 abnormal AE OAE:0001633 a PCO2 abnormal AE that is characterized by an increased carbon dioxide partial pressure or tension in the blood EB 10034183 PCO2 increased AE OAE:0001634 a pPCO2 abnormal AE that is characterized by a decreased carbon dioxide partial pressure or tension in the blood EB 10034181 PCO2 decreased AE OAE:0001635 a blood gas investigation result abnormal AE that is characterized by an abnormal oxygen partial pressure in the blood EB WEB: http://medical-dictionary.thefreedictionary.com/PO2 10062087 PO2 abnormal AE OAE:0001636 a PO2 abnormal AE that is characterized by an increased oxygen partial pressure in the blood EB 10035769 PO2 increased AE OAE:0001637 a PO2 abnormal AE that is characterized by a decreased oxygen partial pressure in the blood EB 10035768 PO2 decreased AE OAE:0001638 an investigation result abnormal AE that results from an abnormal toxicology screen EB 10044260 toxicology drug screen result abnormal AE OAE:0001639 a toxicology drug screen result abnormal AE that is characterized by positive barbiturates EB 10063230 barbiturates positive AE OAE:0001640 a toxicology drug screen result abnormal AE that is characterized by positive cocaine EB 10063230 cocaine positive AE OAE:0001641 a second degree atrioventricular block AE that some of the electrical signals don't reach the ventricles. However, the pattern is less regular than it is in Mobitz type I. Some signals move between the atria and ventricles normally, while others are blocked. On an EKG, the QRS wave follows the P wave at a normal speed. Sometimes, though, the QRS wave is missing (when a signal is blocked). SS, YH, MW Mobitz (type) II atrioventricular block AE Mobitz type 2 block type 2 second degree atrioventricular block type II second degree atrioventricular block WEB: http://www.nhlbi.nih.gov/health//dci/Diseases/hb/hb_types.html 10027786 10050798 Mobitz type II block AE CTCAE: E10140 NCIt: C62018 OAE:0001642 a toxicology drug screen result abnormal AE that is characterized by increased urine cannabinoids EB 10062228 urine cannabinoids increased AE OAE:0001643 an investigation result abnormal AE that involves an abnormal result of a neurological, special senses and psychiatric investigation EB neurological, special senses and psychiatric investigation result abnormal AE 10029295 behavioral and neurological test abnormal AE OAE:0001644 an investigation result abnormal AE resulting from an abnormal physical examination finding EB 10062078 10071940 physical examination result abnormal AE OAE:0001645 an investigation result abnormal AE that involves an abnormal result of an investigation related to chromosomal abnormalities and pathologic conditions EB WEB: http://medical-dictionary.thefreedictionary.com/Cytogenetic+analysis 10011822 cytogenetic investigation result abnormal AE OAE:0001646 an investigation result abnormal AE that involves an abnormal respiratory and pulmonary investigation EB 10038668 respiratory and pulmonary investigation result abnormal AE OAE:0001647 an investigation result abnormal AE that involves an abnormal result of an endocrine investigation EB 10014706 endocrine investigation result abnormal AE OAE:0001649 an endocrine investigation result abnormal AE that is characterized by an abnormal blood parathyroid hormone level EB 10005700 blood parathyroid hormone level abnormal AE OAE:0001650 a blood parathyroid hormone level abnormal AE that is characterized by an increased blood parathyroid hormone level EB 10005703 blood parathyroid hormone increased AE OAE:0001651 an endocrine investigation result abnormal AE that is characterized by an abnormal tri-iodothyronine level EB 10044592 tri-iodothyronine level abnormal AE OAE:0001652 a tri-iodothyronine level abnormal AE that is characterized by an increased tri-iodothyronine level EB 10044596 tri-iodothyronine increased AE OAE:0001653 an investigation result abnormal AE that involves an abnormal protein and chemistry analysis result EB 10037000 protein and chemistry analysis result abnormal AE OAE:0001654 a protein and chemistry analysis result abnormal AE that is characterized by an abnormal blood albumin level EB 10005286 blood albumin level abnormal AE OAE:0001655 a blood albumin level abnormal AE that is characterized by an increased blood albumin level EB 10005288 blood albumin level increased AE OAE:0001656 a protein and chemistry analysis result abnormal AE that is characterized by an abnormal c-reactive protein level EB 10068559 c-reactive protein level abnormal AE OAE:0001657 a c-reactive protein level abnormal AE that is characterized by a decreased c-reactive protein level EB 10049220 c-reactive protein level decreased AE OAE:0001658 a protein total abnormal AE that is characterized by an increased protein total EB 10037016 protein total increased AE OAE:0001659 a protein total abnormal AE that is characterized by a decreased protein total EB 10037014 protein total decreased AE OAE:0001660 a cardiac and vascular investigation result abnormal AE that involves an abnormal result from a test using a radioactive tracer (called a radionuclide) and a special camera to take pictures of your heart as it pumps blood EB WEB: http://www.heart.org/HEARTORG/Conditions/HeartAttack/SymptomsDiagnosisofHeartAttack/Radionuclide-Ventriculography-or-Radionuclide-Angiography-MUGA-Scan_UCM_446354_Article.jsp 10028146 MUGA scan result abnormal AE OAE:0001661 a cardiac function test abnormal AE that shows an abnormal result on a cardiac stress test. EB, YH WEB: http://medical-dictionary.thefreedictionary.com/Stress+Test WEB: https://en.wikipedia.org/wiki/Cardiology_diagnostic_tests_and_procedures 10055014 cardiac stress test result abnormal AE OAE:0001662 an investigation result abnormal AE that is characterized by an abnormal result of an enzyme investigation EB 10014938 enzyme investigation result abnormal AE OAE:0001663 a blood creatine phosphokinase level abnormal AE that is characterized by a decreased blood creatine phosphokinase EB 10067760 blood creatine phosphokinase level decreased AE OAE:0001664 an investigation result abnormal AE that is characterized by an abnormal result of a hematology investigation EB MedDRA: 10057755 haematology investigation abnormal AE 10018851 hematology investigation result abnormal AE OAE:0001665 a hematology investigation result abnormal AE that results in an abnormal red blood cell profile EB 20000029 red blood cell profile abnormal AE OAE:0001666 a hematology investigation result abnormal AE that is characterized by an abnormal white blood cell profile EB 20000030 white blood cell profile abnormal AE OAE:0001667 a white blood cell profile abnormal AE that is characterized by an abnormal percentage of neutrophils EB 10058134 neutrophil percentage abnormal AE OAE:0001668 a neutrophil percentage abnormal AE that is characterized by a decreased percentage of neutrophils EB 10052223 neutrophil percentage decreased AE OAE:0001669 a white blood cell profile abnormal AE that is characterized by an abnormal basophil count EB 10060978 basophil count abnormal AE OAE:0001670 a basophil count abnormal AE that is characterized by a decreased basophil count EB 10004167 basophil count decreased AE OAE:0001671 a white blood cell profile abnormal AE that is characterized by an abnormal eosinophil percentage EB 10058133 eosinophil percentage abnormal AE OAE:0001672 an eosinophil percentage abnormal AE that is characterized by a decreased eosinophil percentage EB 10052221 eosinophil percentage decreased AE OAE:0001673 a white blood cell profile abnormal AE that is characterized by an abnormal leukocyte cell number EB leukocyte cell number abnormal AE OAE:0001674 a white blood cell profile abnormal AE that is characterized by an abnormal granulocyte count EB 10018678 granulocyte count abnormal AE OAE:0001675 a granulocyte count abnormal AE that is characterized by an increased granulocyte count EB 10018683 granulocyte count increased AE OAE:0001676 a white blood cell profile abnormal AE that is characterized by an abnormal lymphocyte cell number EB 10025252 lymphocyte count abnormal AE OAE:0001677 a white blood cell profile abnormal AE that is characterized by an abnormal lymphocyte percentage EB lymphocyte percentage abnormal AE OAE:0001678 a white blood cell profile abnormal AE that is characterized by an abnormal monocyte percentage EB 10067238 monocyte percentage abnormal AE OAE:0001679 a monoctyte percentage abnormal AE that is characterized by a decreased monocyte percentage EB 10052229 monocyte percentage decreased AE OAE:0001680 an enzyme investigation result abnormal AE that is characterized by an abnormal blood lactate dehydrogenase level EB 10005627 blood lactate dehydrogenase level abnormal AE OAE:0001681 a blood lactate dehydrogenase level abnormal AE that is characterized by a decreased blood lactate dehydrogenase EB 10005629 blood lactate dehydrogenase level decreased AE OAE:0001682 an enzyme investigation result abnormal AE that is characterized by an abnormal troponin level EB troponin level abnormal AE OAE:0001683 an enzyme investigation result abnormal AE that is characterized by an abnormal muscle enzyme level EB muscle enzyme level abnormal AE OAE:0001684 a muscle enzyme level abnormal AE that is characterized by a decreased muscle enzyme level EB 10057952 muscle enzyme level decreased AE OAE:0001685 an enzyme investigation result abnormal AE that is characterized by an abnormal myoglobin level in the blood EB myoglobin blood abnormal AE OAE:0001686 a myoglobin blood abnormal AE that is characterized by an increased myoglobin level in the blood EB 10028625 myoglobin blood increased AE OAE:0001687 a myoglobin blood abnormal AE that is characterized by a decreased myoglobin level in the blood 10059940 myoglobin blood decreased AE OAE:0001688 an investigation result abnormal AE that is characterized by an abnormal result of a gastrointestinal investigation EB 10017971 gastrointestinal investigation result abnormal AE OAE:0001689 a gastrointestinal investigation result abnormal AE that is characterized by an abnormal blood amylase level EB 10054822 blood amylase level abnormal AE OAE:0001690 a blood amylase level abnormal AE that is characterized by a decreased blood amylase level EB 10005327 blood amylase level decreased AE OAE:0001691 a gastrointestinal investigation result abnormal AE that is characterized by an abnormal lipase level EB 10054821 lipase level abnormal AE OAE:0001692 a lipase level abnormal AE that is characterized by an increased lipase level EB 10024574 lipase level increased AE OAE:0001693 a lipase level abnormal AE that is characterized by a decreased lipase level EB 10024573 lipase level decreased AE OAE:0001694 an investigation result abnormal AE that is characterized by an abnormal liver related investigation result EB 20000008 liver related investigation result abnormal AE OAE:0001695 a liver related investigation result abnormal AE that is characterized by an abnormal level of transaminases EB 10062688 transaminase level abnormal AE OAE:0001696 a transaminase level abnormal AE that is characterized by a decreased level of transaminases EB 10054795 transaminase level decreased AE OAE:0001697 a liver related investigation result abnormal AE that is characterized by an abnormal aspartate aminotransferase level EB 10003477 aspartate aminotransferase level abnormal AE OAE:0001698 an aspartate aminotransferase level abnormal AE that is characterized by a decreased aspartate aminotransferase level EB 10003479 aspartate aminotransferase level decreased AE OAE:0001699 a gamma-glutamyltransferase level abnormal AE that is characterized by a decreased gamma-glutamyltransferase level EB 10017690 gamma-glutamyltransferase level decreased AE OAE:0001700 a blood bilirubin level abnormal AE that is characterized by a decreased blood bilirubin level EB 10049869 blood bilirubin level decreased AE OAE:0001701 an investigation result abnormal AE that is characterized by an abnormal result of an imaging investigation EB 10022893 imaging investigation result abnormal AE OAE:0001702 a hematology investigation result abnormal AE that is characterized by an abnormal blood thromboplastin level EB 10005824 blood thromboplastin level abnormal AE OAE:0001703 a blood thromboplastin level abnormal AE that is characterized by a decreased blood thromboplastin level EB 10005826 blood thromboplastin level decreased AE OAE:0001704 a hematology investigations result abnormal AE that is characterized by an abnormal coagulation factor v level EB 10061771 coagulation factor v level abnormal AE OAE:0001705 a coagulation factor v level abnormal AE that is characterized by an increased coagulation factor v level EB 10009756 coagulation factor v level increased AE OAE:0001706 a hematology investigation result abnormal AE that is characterized by an abnormal prothrombin level EB 10037048 prothrombin level abnormal AE OAE:0001707 a prothrombin level abnormal AE that is characterized by an increased prothrombin level EB 10037051 prothrombin level increased AE HPO: HP_0003645 SIDER: C0151872 OAE:0001708 a hematology investigation result abnormal AE that is characterized by an abnormal prothrombin time EB 10037057 prothrombin time abnormal AE OAE:0001709 a prothrombin time abnormal AE that is characterized by a shortened prothrombin time EB 10037070 prothrombin time shortened AE OAE:0001710 a full blood count abnormal AE that is characterized by an increased full blood count EB 10052239 full blood count increased AE OAE:0001711 a red blood cell profile abnormal AE that is characterized by an abnormal red blood cell count EB 10038151 red blood cell count abnormal AE OAE:0001712 a red blood cell count abnormal AE that is characterized by an increased red blood cell count EB 10038155 red blood cell count increased AE OAE:0001713 a red blood cell profile abnormal AE that is characterized by an abnormal hematocrit EB 10057763 hematocrit abnormal AE OAE:0001714 a hematocrit abnormal AE that is characterized by an increased hematocrit EB 10019424 hematocrit increased AE OAE:0001715 a hemoglobin level abnormal AE that is characterized by an increased hemoglobin level EB 10055599 hemoglobin level increased AE CTCAE: E12171 NCIt: C78333 OAE:0001716 a red blood cell profile abnormal AE that is characterized by an abnormal mean corpuscular volume EB 10027009 mean corpuscular volume abnormal AE OAE:0001717 a mean corpuscular volume abnormal AE that is characterized by an increased mean corpuscular volume EB 10051859 mean corpuscular volume increased AE OAE:0001718 a mean corpuscular volume abnormal AE that is characterized by a decreased mean corpuscular volume EB 10051858 mean corpuscular volume decreased AE OAE:0001719 a red blood cell profile abnormal AE that is characterized by an abnormal mean cell hemoglobin level EB mean cell hemoglobin level abnormal AE OAE:0001720 a mean cell hemoglobin level abnormal AE that is characterized by an increased mean cell hemoglobin level EB 10055622 mean cell hemoglobin level increased AE OAE:0001721 a mean cell hemoglobin level abnormal AE that is characterized by a decreased mean cell hemoglobin level EB 10055621 mean cell hemoglobin level decreased AE OAE:0001722 a red blood cell profile abnormal AE that is characterized by an abnormal mean cell hemoglobin concentration EB 10067730 mean cell hemoglobin concentration abnormal AE OAE:0001723 a mean cell hemoglobin concentration abnormal AE that is characterized by an increased mean cell hemoglobin concentration EB 10026992 mean cell hemoglobin concentration increased AE OAE:0001724 a mean cell hemoglobin concentration abnormal AE that is characterized by a decreased mean cell hemoglobin concentration EB 10026991 mean cell hemoglobin concentration decreased AE OAE:0001725 a conduction system disorder that refers to abnormalities in SN impulse formation and propagation and includes sinus bradycardia, sinus pause/arrest, chronotropic incompetence, and sinoatrial exit block. SS SND sinus node dysfunction WEB: http://emedicine.medscape.com/article/158064-overview sinoatrial node dysfunction AE OAE:0001726 a coronary artery disorder AE that takes place in or is related to the coronary inside the heart Even though 'coronary disorder AE' seems to be a more general term of 'coronary artery disorder AE' that should place 'coronary disorder AE' as a parent of 'coronary artery disorder AE', KB's comment from clinical perspective is that these two terms are synonymous in practice, and coronary disorder almost always means coronary artery disorder. If 'coronary disorder AE' gets picked up from reports, it is a generalized term of 'coronary artery disorder AE'; and thereofore, we created a place holder for this term under 'coronary artery disorder AE' SS coronary disorder AE OAE:0001727 a myocardial infarction AE in which the inferior wall of the heart is involved. It is often caused by occlusion of the right coronary artery. SS myocardial infarction, inferior wall AE WEB: http://www.ncbi.nlm.nih.gov/mesh/?term=inferior+wall+myocardial+infarction inferior wall myocardial infarction AE OAE:0001728 a myocardial infarction AE in which the anterior wall of the heart is involved. Anterior wall myocardial infarction is often caused by occlusion of the left anterior descending coronary artery. It can be categorized as anteroseptal or anterolateral wall myocardial infarction. SS myocardial infarction, anterior wall AE WEB: http://www.ncbi.nlm.nih.gov/mesh/?term=anterior+wall+myocardial+infarction anterior wall myocardial infarction AE OAE:0001729 a hematology investigation result abnormal AE that is characterized by an abnormal blast cell count EB blast cell count abnormal AE OAE:0001730 a blast cell count abnormal AE that is characterized by a decreased blast cell count EB 10062275 blast cell count decreased AE OAE:0001731 a hematology investigation result abnormal AE that is characterized by an abnormal platelet count EB 10035526 platelet count abnormal AE HPO: HP_0011873 SIDER: C0580317 OAE:0001732 a platelet count abnormal AE that is characterized by an increased platelet count SZ, SS, YH, EB WEB: http://medical-dictionary.thefreedictionary.com/thrombocytosis 10051608 platelet count increased AE OAE:0001733 a white blood cell profile abnormal AE that is characterized by an abnormal eosinophil count EB 10061125 eosinophil count abnormal AE OAE:0001734 an eosinophil count abnormal AE that is characterized by a decreased eosinophil count EB 10014943 eosinophil count decreased AE OAE:0001736 a hypertension AE that is characterized by high blood pressure in the systemic arteries - the vessels that carry blood from the heart to the body's tissues (other than the lungs). SS WEB: http://www.pted.org/?id=syshypertension1 systemic hypertension AE OAE:0001737 a hypotension AE that has an outcome of a decrease in the amount of pressure the heart generates when pumping blood through arteries to the rest of the body SS WEB: http://www.mayoclinic.com/health/low-blood-pressure/DS00590/DSECTION=causes 10005758 blood pressure systolic decreased AE HPO: HP_0006673 SIDER: C0277885 OAE:0001738 a cardiac valve disease AE that is characterized by an impaired function of a papillary muscle, usually due to ischemia or infarction, with resulting incompetence of the mitral (rarely tricuspid) valve. SS papillary muscle dysfunction papillary muscle syndrome WEB: http://medical-dictionary.thefreedictionary.com/papillary+muscle+dysfunction 10061330 papillary muscle disorder AE OAE:0001739 a hypertension AE that has an outcome of an increase in the amount of pressure in the arteries when the heart is at rest between beats SS WEB: http://www.webmd.com/hypertension-high-blood-pressure/guide/diastolic-and-systolic-blood-pressure-know-your-numbers 10005739 blood pressure diastolic increased AE HPO: HP_0005117 SIDER: C0277889 OAE:0001740 a hypertension AE that has an outcome of an increase in the amount of pressure the heart generates when pumping blood through arteries to the rest of the body SS WEB: http://www.webmd.com/hypertension-high-blood-pressure/guide/diastolic-and-systolic-blood-pressure-know-your-numbers 10005760 blood pressure systolic increased AE HPO: HP_0004421 SIDER: C0277884 OAE:0001741 a cardiac ventricular disorder AE that is a condition in nwhich the right ventricle of the heart was functionally impaired. This condition usually leads to heart failure or myocardial infarction, and other cardiovascular complicationns. SS WEB: http://www.ncbi.nlm.nih.gov/mesh/?term=right%20ventricular%20dysfunction 10058597 right ventricular dysfunction AE CTCAE: E10196 NCIt: C50733 OAE:0001742 an arrhythmia AE that is characterized by a premature contraction of the ventricle SS infranodal extrasystoles AE WEB: http://dictionary.reference.com/browse/ventricular+extrasystole 10047289 ventricular extrasystoles AE HPO: HP_0006696 SIDER: C0151636 OAE:0001743 an embolism disorder AE that is a result of an obstruction in a cardiac vessel due to a blood clot or other foreign matters SS heart embolism AE WEB: http://medical-dictionary.thefreedictionary.com/Heart+embolism cardiac embolism AE OAE:0001744 a vascular disorder AE that is characterized by an obstruction in a blood vessel due to a blood clot or other foreign matter that gets stuck while traveling through the bloodstream. SS WEB: http://medical-dictionary.thefreedictionary.com/embolism 栓塞 10014523 embolism AE HPO: HP_0001907 SIDER: C0013922 OAE:0001746 an arrhythmia AE that results in extra, abnormal heartbeats that begin in one of the heart's two lower pumping chambers (ventricles). These extra beats disrupt the regular heart rhythm, sometimes causing the patient to feel a flip-flop or skipped beat in the chest. SS PVCs WEB: http://www.mayoclinic.com/health/premature-ventricular-contractions/DS00949 10036614 premature ventricular contractions AE OAE:0001747 a cardiac valve disease AE that is charaterized by the backflow of blood from the pulmonary artery into the right ventricle, owing to imperfect functioning of the pulmonary valve SS pulmonic incompetence AE WEB: http://www.rightdiagnosis.com/medical/pulmonary_valve_incompetence.htm 10037448 pulmonary valve incompetence AE HPO: HP_0010444 SIDER: C0034088 OAE:0001748 a cardiac vavle disease AE that is characterized by a congenital heart defect in which blood flow from the heart to the pulmonary artery is blocked SS pulmonic stenosis AE WEB: http://medical-dictionary.thefreedictionary.com/Pulmonary+Valve+Stenosis 10037450 pulmonary valve stenosis AE OAE:0001749 a vasculitis AE that is an inflammation specific to an artery or arteries SS WEB: http://medical-dictionary.thefreedictionary.com/arteritis 10003230 arteritis AE HPO: HP_0005291 SIDER: C0003860 OAE:0001751 a vascular disorder AE that results in an abnormal widening or ballooning of a portion of an artery due to weakness in the wall of the blood vessel SS WEB: http://www.nlm.nih.gov/medlineplus/ency/article/001122.htm 10002329 aneurysm AE HPO: HP_0002617 SIDER: C0002940 OAE:0001752 a vascular disorder that affects the veins or blood circulation of the veins SS venous disorder AE OAE:0001753 an aneurysm AE that results in the weakening of the balloon-like bulge that the blood pressure causes the artery wall to leak or burst SS SAH ruptured aneurysm AE subarachnoid hemorrhage AE WEB: http://www.mayfieldclinic.com/PE-AneurRupt.htm#.Uor4tI3QHh0 10048380 aneurysm ruptured AE HPO: HP_0002617 SIDER: C0162869 OAE:0001754 an aneurysm AE that refers to an aneurysm involving cardiac tissue. This most often occurs as a ventricular aneurysm following a myocardial infarction SS aneurysm of heart AE heart aneurysm AE WEB: http://www.ncbi.nlm.nih.gov/pubmed/19239694 10007513 cardiac aneurysm AE OAE:0001755 an aneurysm AE that occurs in the aorta SS WEB: http://www.webmd.com/heart-disease/tc/aortic-aneurysm-overview 10002882 aortic aneurysm AE HPO: HP_0004942 SIDER: C0003486 OAE:0001756 an aneurysm ruptured AE that occurs in the aorta SS ruptured aortic aneurysm AE 10002886 aortic aneurysm rupture AE HPO: HP_0002622 SIDER: C0741160 OAE:0001757 an aortic disorder AE in which there is a separation of the aorta walls. The small tear can become larger. It can lead to bleeding into and along the wall of the aorta, the major artery carrying blood out of the heart. SS WEB: http://www.nlm.nih.gov/medlineplus/ency/article/000181.htm 10002895 aortic dissection AE HPO: HP_0004933 SIDER: C0340643 OAE:0001758 an aneurysm ruptured AE that occurs in the brain where blood spurts into the subarachnoid space under arterial pressure, continuing until increased local or generalized intracranial pressure stops the bleeding. SS WEB: http://ether.stanford.edu/library/neuroanesthesia/Journal%20Articles/Ruptured%20cerebral%20aneurysms.pdf WEB: http://www.ncbi.nlm.nih.gov/pubmed/15647574 10039330 ruptured cerebral aneurysm AE OAE:0001759 an aneurysm AE that occurs in the brain SS brain aneurysm AE cerebral aneurysm AE intracerebral aneurysm AE WEB: http://www.ninds.nih.gov/disorders/cerebral_aneurysm/detail_cerebral_aneurysms.htm 10022758 intracranial aneurysm AE HPO: HP_0004944 SIDER: C0007766 OAE:0001760 a thrombosis AE that is a rare lesion and may be defined as a thrombosis of a vessel without any obvious underlying cause that occurs in the aorta SS WEB: http://circ.ahajournals.org/content/17/5/941.full.pdf 10002910 aortic thrombosis AE OAE:0001761 an arterial thrombosis AE that is characterized by the occurrence of a thrombus in the carotid arteries (two large blood vessels that supply oxygenated blood to the large, front part of the brain) SS WEB: http://www.webmd.com/heart-disease/carotid-artery-disease-causes-symptoms-tests-and-treatment 10007688 carotid artery thrombosis AE OAE:0001762 an arterial embolism AE that occurs in the cerebral artery SS cerebral embolism AE embolic stroke AE thrombotic stroke AE WEB: http://medical-dictionary.thefreedictionary.com/cerebral+embolism 10008088 10014498 10043647 cerebral artery embolism AE OAE:0001763 an arterial thrombosis AE that occurs in the cerebral artery, also referred to as an embolism AE [SS] Per DRA and KKB's comment, this term may also be characterized as a type of embolism even though labeled thrombosis. cerebral thrombosis AE 10008092 10008132 cerebral artery thrombosis AE OAE:0001764 a venous thrombosis AE that is characterized by thrombosis of the venous channels in the brain. It is an uncommon cause of cerebral infarction relative to arterial disease, but it is an important consideration because of its potential morbidity. [SS] From http://medical-dictionary.thefreedictionary.com/cerebral+venous+thrombosis, Merwarth syndrome - progressive hemiplegia due to venous occlusion. Synonym(s): cerebral venous thrombosis SS WEB: http://emedicine.medscape.com/article/1162804-overview 10008138 cerebral venous thrombosis AE OAE:0001765 a venous thrombosis AE that occurs when a blood clot forms in the brain’s venous sinuses that prevents blood from draining out of the brain. As a result, blood cells may break and leak blood into the brain tissues, forming a hemorrhage. SS CVST WEB: http://www.hopkinsmedicine.org/healthlibrary/conditions/nervous_system_disorders/cerebral_venous_sinus_thrombosis_134,69/ 10061251 intracranial venous sinus thrombosis AE OAE:0001766 an embolism AE that is caused by a gas bubble that enters the vein [SS] The term 'gas embolism' is listed as a unique term, and not a superset or a synonym of 'air embolism' due to the different pathology reconized by physicians that air embolism is mostly recognized when an air bubble caused by IV or other injection device enters the vein, while a gas embolism is mostly caused by a gas bubble released as a product of an infection, or other devices such as nitrogen tank. SS gas embolilsm AE OAE:0001767 a thrombosis that is characterized by a clot that blocks blood flow a mesenteric vein, one of two veins through which blood leaves the intestine. The condition interrupts the blood supply to the intestine and can result in damage to the intestines. [SS] http://emedicine.medscape.com/article/193921-overview, Mesenteric venous thrombosis (also known as visceral venous thrombosis) is a rare but lethal form of mesenteric ischemia (see the image below). Antonio Hodgson first described mesenteric ischemia in the latter part of the 15th century. In 1895, Elliot first described mesenteric venous thrombosis as a cause of mesenteric ischemia. By the turn of the 19th century, many review articles and texts were describing the recent advances in the characterization and treatment of mesenteric ischemia, particularly venous thrombosis. In 1935, Warren and Eberhard reported that intestinal infarction resulted from ischemia due to venous thrombosis, and they reported a mortality rate of 34% in patients with venous thrombosis after resection. Unfortunately, despite improvements in therapy, this mortality rate still holds. SS mesenteric venous thrombosis AE visceral venous thrombosis AE WEB: http://www.nlm.nih.gov/medlineplus/ency/article/001157.htm 10027402 mesenteric vein thrombosis AE OAE:0001768 a thrombosis AE that is an uncommon condition induced by thrombotic or nonthrombotic obstruction of hepatic venous outflow and characterized by hepatomegaly, ascites, and abdominal pain. SS WEB: http://emedicine.medscape.com/article/184430-overview 10006537 Budd-Chiari syndrome AE OAE:0001769 a thrombosis AE that occurs in the vein carrying the blood away from the retina [SS] The term 'retinal vein thrombosis' is listed as a different class from 'retinal vein occlusion' for the difference in the pathological process of how the blockage occurs in the vein. SS 10038908 retinal vein thrombosis AE OAE:0001771 an embolism AE that occurs in the artery. It is a sudden interruption of blood flow to an organ or body part due to a clot (embolus). SS embolism arterial AE WEB: http://www.nlm.nih.gov/medlineplus/ency/article/001102.htm 10014513 arterial embolism AE OAE:0001772 a thrombosis AE* that is a result of when a blood vessel is obstructed by a blood clot (embolus) that has been carried in the bloodstream from the site of its formation. Thromboembolic disease includes both venous thromboembolism (VTE) and arterial thrombosis. VTE is an general term which refers to mainly two conditions: deep vein thrombosis (DVT) and its potentially fatal acute complication, pulmonary embolism (PE). Arterial embolism is a frequent complication in patients with atrial fibrillation (AF) and can lead to stroke or systemic embolism. * see editor note [SS] Per DRA and KKB's comment, this term is synonymous to venous thrombosis even though labeled embolism. Cross-reference is made via seeAlso. SS VTE embolism venous AE venous thromboembolism AE WEB: http://www.boehringer-ingelheim.com/products/prescription_medicines/thromboembolic_diseases.html 10014522 venous embolism AE OAE: 0001505 OAE:0001773 an embolism AE that is characterized by the obstruction of blood vessel by fat droplets SS WEB: http://emedicine.medscape.com/article/460524-overview#showall 10016246 fat embolism AE OAE:0001774 a embolism AE that is infected with bacteria containing pus SS septic embolism AE WEB: http://www.medicalnewstoday.com/articles/153704.php 10040067 septic embolus AE OAE:0001775 a thrombosis AE that occurs in or may be caused by an implanted device in the body SS 10062546 thrombosis in device AE OAE:0001777 an arterial thrombosis AE that occurs in the limb(s) of the body SS 10003180 arterial thrombosis limb AE OAE:0001778 an inflammation AE that occurs in eye. YH, JX eye inflammation AE OAE:0001779 SS 10022104 injection site thrombosis AE OAE:0001780 a deep vein thrombosis AE that occurs in the pelvis. Ovarian vein thrombosis arises out of the coincident conditions of venous stasis and hypercoagulability, which are commonly present in the recently postpartum patient. SS ovarian vein thrombosis AE WEB: http://emedicine.medscape.com/article/404364-overview 10034272 pelvic venous thrombosis AE OAE:0001781 an embolism AE that is charaterized by a sudden blockage in a lung artery. The blockage usually is caused by a blood clot that travels to the lung from a vein in the leg. SS PE WEB: http://www.nhlbi.nih.gov/health/health-topics/topics/pe/ 10061340 peripheral embolism AE OAE:0001782 a thrombosis AE that occurs in subclavian vein. Among patients with effort-induced thrombosis with subclavian vein stenosis, the thrombosis occurs in the dominant arm in 80% of cases. SS WEB: http://emedicine.medscape.com/article/424777-overview#showall 10049446 subclavian vein thrombosis AE OAE:0001783 a thrombophlebitis AE that is characterized by an inflammation of a vein due to a blood clot in a vein located just below the skin's surface. YH: MedDRA: 10043595 is for "thrombophlebitis superficial"; MedDRA: 10042554 is for "superficial thrombophlebitis" SS, YH, MW thrombophlebitis superficial AE WEB: http://www.nlm.nih.gov/medlineplus/ency/article/000199.htm 表在性血栓性静脈炎 superficial thrombophlebitis AE CTCAE: E13817 NCIt: C78634 UMLS CUI: C1510431 OAE:0001784 SS 10061408 venous thrombosis limb AE OAE:0001785 a thrombosis that is characterized by a blockage of the small veins that carry blood away from the retina. The retina is the layer of tissue at the back of the inner eye that converts light images to nerve signals and sends them to the brain. SS RVO WEB: http://www.nlm.nih.gov/medlineplus/ency/article/007330.htm 10038907 retinal vein occlusion AE OAE:0001786 a thrombosis AE that occurs in the atrium (left or right) SS WEB: http://ehjcimaging.oxfordjournals.org/content/9/1/204.full 10048632 atrial thrombosis AE OAE:0001787 an arterial thrombosis AE that occurs in the coronary artery SS coronary embolism AE WEB: http://medical-dictionary.thefreedictionary.com/Coronary+embolism 10011084 10011091 coronary artery thrombosis AE OAE:0001790 a brain AE that occurs when flow of oxygen-rich blood to a portion of the brain is blocked JX, LW, YH cardiovascular accident AE WEB: http://en.wikipedia.org/wiki/Stroke WEB: http://www.nhlbi.nih.gov/health/health-topics/topics/stroke/ 中风 10042244 stroke AE CTCAE: E12826 NCIt: C3390 OAE:0001791 a stroke AE that occurs when a blood vessel that supplies the brain becomes blocked or "clogged" and impairs blood flow to part of the brain. SS ischaemic stroke AE WEB: http://www.hopkinsmedicine.org/healthlibrary/conditions/nervous_system_disorders/types_of_stroke_85,P00813/ 10061256 ischemic stroke AE OAE:0001792 a stroke AE that occurs when a blood vessel that supplies the brain ruptures and bleeds causing the deficiency of oxygen and nutrients to brain cells and tissues SS haemorrhagic stroke AE WEB: http://www.hopkinsmedicine.org/healthlibrary/conditions/nervous_system_disorders/types_of_stroke_85,P00813/ 10019016 hemorrhagic stroke AE OAE:0001793 a haemorrhagic stroke AE that is cuased by hypertension (high blood pressure), and bleeding occurs suddenly and rapidly. SS intracerebral haemorrhagic stroke AE WEB: http://www.hopkinsmedicine.org/healthlibrary/conditions/nervous_system_disorders/types_of_stroke_85,P00813/ intracerebral hemorrhagic stroke AE OAE:0001794 a haemorrhagic stroke AE that is cuased by the bleeding (haemorrhage) between the brain and the meninges (the membrane that covers the brain) in the subarachnoid space. SS subarachnoid haemorrhagic stroke AE WEB: http://www.hopkinsmedicine.org/healthlibrary/conditions/nervous_system_disorders/types_of_stroke_85,P00813/ subarachnoid hemorrhagic stroke AE OAE:0001795 an ischaemic stroke AE that is caused by a thrombus (blood clot) that develops in the arteries supplying blood to the brain SS WEB: http://www.hopkinsmedicine.org/healthlibrary/conditions/nervous_system_disorders/types_of_stroke_85,P00813/ 10043647 thrombotic stroke AE OAE:0001796 an ischaemic stroke AE that is caused by an embolus (a blood clot that formms elsewhere in the body and travels through the bloodstream to the brain). SS WEB: http://www.hopkinsmedicine.org/healthlibrary/conditions/nervous_system_disorders/types_of_stroke_85,P00813/ 10014498 embolic stroke AE OAE:0001797 a behavior and neurological AE that has an outcome of a mental illness or psychiatiric disorder. The mental illness is a mental or behavioral pattern or anomaly that causes either suffering or an impaired ability to function in ordinary life (disability), and which is not developmentally or socially normative. YH, Izabela Birsanescu mental disorder AE WEB: http://en.wikipedia.org/wiki/Mental_disorder 10037175 psychiatric disorder AE OAE:0001798 a psychiatric disorder AE that has an outcome of a adjustment disorder. An adjustment disorder is an unexpectedly strong emotional or behavioral reaction that occurs in response to an identifiable stressful life event or life change that occurred within the previous three months. Yongqun He, Izabela Birsanescu WEB: http://www.healthline.com/health/adjustment-disorder 10001301 10001302 adjustment disorder AE OAE:0001799 an adjustment disorder AE that has an additional depressed mood. The person is more depressed than would be expected after a stressful event. Yongqun He, Izabela Birsanescu WEB: http://www.summitmedicalgroup.com/library/adult_health/bha_adjustment_disorder_with_depressed_mood/ 10001297 adjustment disorder with depressed mood AE OAE:0001800 a hemorrhage AE that has an outcome of bleeding from anastomosis site. Anastomosis: pathological formation of an opening between two normally distinct spaces or organs. Yongqun He, Izabela Birsanescu WEB: http://medical-dictionary.thefreedictionary.com/anastomosis 10071781 anastomotic bleeding AE OAE:0001801 a clostridial infection AE that is caused by C. difficule. Yongqun He, Izabela Birsanescu WEB: http://www.mayoclinic.org/diseases-conditions/c-difficile/basics/definition/CON-20029664?p=1 10054236 Clostridium difficile infection AE OAE:0001802 Yongqun He, Izabela Birsanescu a bacteraemia AE that is more specifically associated with a Gram-negative bacterium. 10054228 Gram-negative bacteremia AE OAE:0001805 a hemorrhage AE that has an outcome of massive amounts of blood loss. A typical Intraoperative hemorrhage has a blood loss exceeding 1000 mL or requires a blood transfusion Yongqun He, Izabela Birsanescu WEB: http://www.uptodate.com/contents/management-of-hemorrhage-in-gynecologic-surgery 10055298 Intraoperative hemorrhage AE CTCAE: E11810 NCIt: C35135 OAE:0001806 an abscess AE that shows a cavity of pus within the pancreas Yongqun He, Izabela Birsanescu WEB: http://www.nlm.nih.gov/medlineplus/ency/article/000270.htm 10048984 pancreatic abscess AE OAE:0001807 a sugery AE that has an adverse outcome where the recipient’s body rejects the pancreas transplantation. Yongqun He, Izabela Birsanescu WEB: http://www.medscape.com/viewarticle/436542_13 10049169 pancreas transplant rejection AE OAE:0001808 an infection AE that has an outcome of a severe local inflammation, usually with pus formation, generally caused by one of the pyogenic bacteria. Yongqun He, Izabela Birsanescu WEB: http://www.medilexicon.com/medicaldictionary.php?t=44396 10021861 pyogenic infection AE OAE:0001809 a fever AE that has unknown origin. Yongqun He, Izabela Birsanescu WEB: http://medicine.academic.ru/123590/fever_of_unknown_origin 10016563 fever of unknown origin AE OAE:0001841 a blood phosphate abnormal AE that has an abnormally increased amount of phosphate in the blood EB, YH, MW WEB: https://en.wikipedia.org/wiki/Hyperphosphatemia 10020712 hyperphosphatemia AE HPO: HP_0002905 OAE:0001843 a respiratory distress AE that is characterized by insufficient oxygen flow in the heart and respiratory system. SS, YH WEB: http://medicalcenter.osu.edu/patientcare/healthcare_services/lung_diseases/about/signs/Pages/index.aspx, http://www.merriam-webster.com/dictionary/cardiorespiratory 10049874 cardio-respiratory distress AE OAE:0001844 A joint disorder AE that has the presence of increased intra-articular fluid. It can be caused by trauma, arthritis, or gout and often affects the knee. RR, YH, MW PMID: 19915432 WEB: http://en.wikipedia.org/wiki/Joint_effusion 10023215 joint effusion AE CTCAE:E12431 NCIt:C49052 OAE:0001845 a gastrointestinal disorder AE that shows a problem with the stomach, ranging from indigestion and heartburn to peptic ulcers and GERD. RR, YH stomach disorder AE WEB: http://www.nlm.nih.gov/medlineplus/stomachdisorders.html 10056819 gastric disorder AE OAE:0001847 An inflammation AE that displays an inflammation (not an infection) of the thyroid gland. http://www.endocrineweb.com/conditions/thyroid/thyroiditis yongqun he, liwei wang thyroiditis AE OAE:0001848 a urinary system AE that has an outcome of the excretion of glucose into the urine. web: http://en.wikipedia.org/wiki/glycosuria LW, YH glucosuria AE OAE:0001850 an inflammation AE that shows localized nodular inflammation found in tissues. KM, JX, YH WEB: http://en.wikipedia.org/wiki/Granuloma WEB: http://www.mayoclinic.org/granuloma/expert-answers/faq-20057838 WEB: http://www.medicinenet.com/script/main/art.asp?articlekey=3629 10018691 granuloma AE OAE:0001851 a burning sensation AE that occurs at the skin. KM, JX, YH 10054786 skin burning sensation AE OAE:0001852 a sensory capability AE that has an outcome of numbness, a loss of sensation of feeling in a part of the body. YH, JS WEB: http://www.mayoclinic.org/symptoms/numbness/basics/definition/sym-20050938 10029829 numbness AE OAE:0001853 a pneumonia AE that occurs at the interstitial lung. Interstitial pneumonia is often caused by an infection of bacteria, viruses, or fungii. A bacterium called Mycoplasma pneumonia is the most common cause. JX, YH WEB: http://www.webmd.com/lung/interstitial-lung-disease 10022617 interstitial pneumonia AE OAE:0001854 a numbness AE that occurs around the mouth. The terms 'circumoral numbness AE' and 'circumoral paresthesia AE' appear to be synonyms. YH, JS WEB: http://link.springer.com/referenceworkentry/10.1007%2F3-540-29623-9_6515 10049339 circumoral numbness AE OAE:0001855 Skin necrosis AE is a necrosis AE that results in the death of the skin tissue. Skin necrosis often occurs when not enough blood and oxygen are supplied to a given skin region. JX, LW, YH 皮肤坏死 10040893 skin necrosis AE UMLS ID: C0151799 OAE:0001856 Systemic lupus erythematosus (SLE) syndrome AE is a lupus syndrome AE that is systemic and disseminated. SLE most often harms the heart, joints, skin, lungs, blood vessels, liver, kidneys, and nervous system. Although “lupus” actually includes a number of different diseases, SLE is the most common type of lupus, and when people say “lupus,” they are often referring to SLE. JX, LW, YH SLE systemic lupus erythematosus syndrome AE 系统性红斑狼疮 WEB: http://en.wikipedia.org/wiki/Systemic_lupus_erythematosus WEB: http://www.healthline.com/health/systemic-lupus-erythematosus#Overview1 系统性红斑狼疮综合征 systemic lupus erythematosus AE OAE:0001857 Urgent urination AE is a urinary system AE that has an outcome of a sudden, compelling urge to urinate, along with discomfort in the bladder. JX, LW, YH micturition urgency urinary urgency WEB: http://sideeffects.embl.de/se/C0085606/ WEB: http://www.nlm.nih.gov/medlineplus/ency/article/003140.htm 尿急 10046593 urgent urination AE CTCAE: E13062 NCIt: C50792 UMLS CUI: C0439609 OAE:0001858 Precordialgia AE is a pain AE that pain located in the precordial region. JX, LW, YH WEB: http://www.drugs.com/dict/precordialgia.html 心前痛 precordialgia AE OAE:0001859 Dyshidrosis AE is a skin AE that shows a disorder of eccrine sweat glands, characterized by small blisters on the hands or feet. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Dyshidrosis 汗疱疹 10013912 dyshidrosis AE OAE:0001860 Ankle swelling AE is an edema AE that shows abnormal buildup of fluid in the ankles. Ankle swelling is a sign of fluid buildup or inflammation of the joint and tissues of the ankle. Mild ankle swelling is a common occurrence after standing for a long period. JX, LW, YH WEB: http://www.healthgrades.com/symptoms/ankle-swelling 踝部水肿 10002554 ankle swelling AE UMLS ID: C0235439 OAE:0001861 Renal dysfunction AE is a kidney AE that has an outcome of reduced capacity to excrete metabolic products which accumulate systemically and are detectable clinicopathologically by renal function tests. The early stage of uremia. This term appears to be a synonym to the 'renal failure AE'. JX, LW, YH hepatic and renal function disorder AE 肾功能障碍 renal dysfunction AE UMLS ID: C0859242 OAE:0001862 Epiphora AE is a eye AE that shows an overflow of tears onto the face. In this case, there is insufficient tear film drainage from the eyes, and the tears will drain down the face rather than through the nasolacrimal system. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Epiphora_(medicine) 泪溢 10015068 epiphora AE UMLS ID: C0152227 OAE:0001863 Hemolytic anemia AE is an anemia AE associated with hemolysis, the abnormal breakdown of red blood cells (RBCs), either in the blood vessels (intravascular hemolysis) or elsewhere in the human body (extravascular). Such an AE can be relatively harmless or life-threatening. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Hemolytic_anemia 溶血性贫血 10019493 hemolytic anemia AE OAE:0001864 a behavioral and neurological AE where somniloquy also is called sleep-talking, a parasomnia that refers to talking aloud while asleep. Somniloquy can be quite loud, ranging from simple mumbling sounds to loud shouts and long frequently inarticulate speeches, and can occur many times during a sleep cycle. As with sleepwalking and night terrors, sleeptalking usually occurs during the less-deep delta-wave NREM sleep stages or during temporary arousals therefrom. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Somniloquy 梦呓 somniloquy AE OAE:0001865 Cholelithiasis AE is a liver, biliary, and pancreatic AE that shows hard deposits forming inside the gallbladder. Gallstones may be as small as a grain of sand or as large as a golf ball. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Gallstone 10008629 cholelithiasis AE UMLS ID: C1328486 OAE:0001866 Blepharoptosis AE is an eye AE that shows droopy upper eyelid or ptosis that presents with substantial blockage upper part of field of vision, risk of amblyopia among young children, and dramatic change in the facial appearance. JX, LW, YH WEB: http://eyewiki.aao.org/Blepharoptosis 眼睑下垂 10005157 blepharoptosis AE OAE:0001874 an epileptic seizure AE that is characterized by tonic-clonic seizures, involving two phases -- the tonic phase in which the body becomes rigid, and clonic phase in which there is uncontrolled jerking. JX, LW, YH WEB: http://www.medicinenet.com/script/main/art.asp?articlekey=32957 癫痫大发作 10018658 grand mal AE OAE:0001875 Erythema simplex AE is an erythema AE that accompany with blushing or redness of the skin caused by a toxic reaction or a neurovascular phenomenon. JX, LW, YH WEB: http://medical-dictionary.thefreedictionary.com/erythema+simplex 单纯性红斑 erythema simplex AE OAE:0001876 Pelvic pain AE is a pain AE that occurs in the lower abdomen area. The pain might be steady, or it might come and go. If the pain is severe, it might get in the way of people's daily activities. JX, LW, YH, MW WEB: http://www.nlm.nih.gov/medlineplus/pelvicpain.html 骨盆痛 10034263 pelvic pain AE CTCAE:E13167 NCIt:C40122 OAE:0001877 Extrasystoles AE is an arrhythmia AE that shows a premature contraction of the heart that is independent of the normal rhythm of the heart and arises in response to an impulse in some part of the heart other than the normal impulse from the sinoatrial node. The extrasystole is followed by a pause, as the heart electrical system "resets" itself and the contraction following the pause is usually more forceful than normal. JX, LW, YH WEB: http://www.medicinenet.com/script/main/art.asp?articlekey=32159 早搏（额外收缩） 10015856 extrasystoles AE OAE:0001878 An increased upper airway secretion AE is a respiratory system AE characterized by an increased secretion at the upper airway location. RR, YH 10062717 increased upper airway secretion AE OAE:0001879 Feeling of body temperature change AE is a feeling abnormal AE that a patient feels a change in body temperature. RR, YH 10061458 feeling of body temperature change AE OAE:0001880 Heartburn AE is a gastric disorder AE that also known as pyrosis, cardialgia, or acid indigestion. It's a burning sensation in the chest, just behind the breastbone or in the epigastrium, the upper central abdomen. The pain often rises in the chest and may radiate to the neck, throat, or angle of the jaw. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Heartburn 胃灼热（烧心） 10019326 heartburn AE OAE:0001881 Tonsillitis AE is an inflammation AE that is inflammation of the tonsils most commonly caused by viral or bacterial infection. Symptoms may include sore throat and fever. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Tonsillitis 扁桃体炎 10044008 tonsillitis AE OAE:0001882 Non-insulin-dependent diabetes mellitus AE is a diabetes mellitus AE which is also called diabetes mellitus type 2, it's characterized by hyperglycemia (high blood sugar) in the context of insulin resistance and relative lack of insulin. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Diabetes_mellitus_type_2 非胰岛素依赖型糖尿病 10029505 non-insulin-dependent diabetes mellitus AE OAE:0001883 Insulin dependent diabetes mellitus AE is a diabetes mellitus AE which is also called diabetes mellitus type 1. It results from the autoimmune destruction of the insulin-producing beta cells in the pancreas. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Diabetes_mellitus_type_1 胰岛素依赖型糖尿病 10022497 insulin dependent diabetes mellitus AE OAE:0001884 a hyporeflexia AE where the patient shows no sign of reflexes. JX, LW, YH WEB: http://www.medicinenet.com/script/main/art.asp?articlekey=20423 反射消失 10003084 areflexia AE OAE:0001885 Mastauxea AE is a reproductive system AE that shows enlargement of the breast. JX, LW, YH WEB: http://medical-dictionary.thefreedictionary.com/mastauxe 乳房增大 mastauxe AE OAE:0001886 Uveitis AE is an inflammation AE that is inflammation of the uvea, which lines the inside of the eye behind the cornea. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Uveitis 色素层炎 10046851 uveitis AE CTCAE: E10442 NCIt: C26909 OAE:0001887 Sexual dysfunctions AE is a reproductive system AE that is difficulty experienced by an individual or a couple during any stage of a normal sexual activity, including physical pleasure, desire, preference, arousal or orgasm. JX, LW, YH sexual malfunction AE WEB: http://en.wikipedia.org/wiki/Sexual_dysfunction 性功能障碍 10040477 sexual dysfunctions AE OAE:0001888 Hypomnesia AE is a behavior and neurological AE that is an archaic term applied to poor memory, the impaired ability to recall information previously memorized. JX, LW, YH WEB: http://psychology.wikia.com/wiki/Hypomnesia 记忆减退 10021035 hypomnesia AE OAE:0001889 Phobia AE is a behavior and neurological AE that is a type of anxiety disorder, usually defined as a persistent fear of an object or situation in which the sufferer commits to great lengths in avoiding, typically disproportional to the actual danger posed, often being recognized as irrational. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Phobia 恐惧症 10034912 phobia AE OAE:0001890 Lymphadenectasis AE is an edema AE that shows enlargement of the lymph node. JX, LW, YH WEB: http://medical-dictionary.thefreedictionary.com/lymphadenectasis 淋巴结肿大 10025282 lymphadenectasis AE OAE:0001891 Asterixis AE is a tremor AE that also called the flapping tremor, or liver flap, which is a tremor of the hand when the wrist is extended, sometimes said to resemble a bird flapping its wings. This motor disorder is characterized by an inability to actively maintain a position, which is demonstrated by jerking movements of the outstretched hands when bent upward at the wrist. The tremor is caused by abnormal function of the diencephalic motor centers in the brain, which regulate the muscles involved in maintaining position. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Asterixis 扑翼样震颤 10003547 asterixis AE OAE:0001892 Parageusia AE is a gustatory system AE which is the medical term for a bad taste in the mouth. One common form of parageusia is a metallic taste of food. This can be a side effect of several medications, such as acetazolamide, eszopiclone, zopiclone, metronidazole, or etoposide. Metallic taste is also a type of dysgeusia which is frequently associated with infections in the mouth or upper airways. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Parageusia 味觉颠倒 10033793 parageusia AE OAE:0001893 Brain damage AE is a brain AE that also called brain injury is the destruction or degeneration of brain cells. In general, brain damage refers to significant, undiscriminating trauma-induced damage. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Brain_damage 脑损伤 10056389 brain damage AE OAE:0001894 Frequent bowel movements AE is a abnormal stool AE that people are having more bowel movements than is normal for them. Often, frequent bowel movements are accompanied by diarrhea, the passage of loosely formed stool. JX, LW, YH WEB: http://www.healthgrades.com/symptoms/frequent-bowel-movements 大便频繁 10017367 frequent bowel movements AE OAE:0001895 Hyperprolactinemia AE is an endocrine investigation result abnormal AE that is the presence of abnormally high levels of prolactin in the blood. Normal levels are less than 500 mIU/L [20 ng/mL or µg/L] for women, and less than 450 mIU/L for men. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Hyperprolactinaemia 高泌乳素血症 10020739 hyperprolactinemia AE OAE:0001896 Galactorrhea AE is a reproductive system AE that is the spontaneous flow of milk from the breast, unassociated with childbirth or nursing. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Galactorrhea 乳溢 10017592 galactorrhea AE OAE:0001897 Sitophobia AE is a behavior and neurological AE that shows a morbid or insane dread of eating. JX, LW, YH WEB: http://en.wiktionary.org/wiki/sitophobia 畏食 sitophobia AE OAE:0001898 Ejection murmur AE is a cardiac disorder AE which is due to turbulent forward flow across the right and left ventricular outflow tract, aortic or pulmonary valve, or through the aorta or pulmonary artery. JX, LW, YH WEB: http://www.cardiologysite.com/auscultation/html/ejection_murmurs.html 收缩期喷射性杂音 ejection murmur AE OAE:0001899 Hypoactive sexual desire disorder AE is a libido disorder AE that is considered a sexual dysfunction and is characterized as a lack or absence of sexual fantasies and desire for sexual activity, as judged by a clinician. JX, LW, YH hyposexuality AE WEB: http://en.wikipedia.org/wiki/Hypoactive_sexual_desire_disorder 性欲减退 10020933 hypoactive sexual desire disorder AE OAE:0001900 Bigotry AE is a behavior and neurological AE that is a state of mind where a person strongly and unfairly dislikes other people, ideas, etc. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Bigotry 偏执 bigotry AE OAE:0001901 Somnambulisma AE is a behavior and neurological AE that also known as sleepwalking or noctambulism, which is a sleep disorder belonging to the parasomnia family. It arise from the slow wave sleep stage in a state of low consciousness and perform activities that are usually performed during a state of full consciousness. These activities can be as benign as sitting up in bed, walking to the bathroom, and cleaning, or as hazardous as cooking, driving, violent gestures, grabbing at hallucinated objects, or even homicide. JX, LW, YH noctambulism AE sleepwalking AE WEB: http://en.wikipedia.org/wiki/Sleepwalking 梦游症 10041347 somnambulism AE OAE:0001902 Hyperphagia AE is an eating disorder AE that also called polyphagia. It's a medical sign meaning excessive hunger and abnormally large intake of solids by mouth. It can be caused by disorders such as diabetes, Kleine–Levin syndrome (a malfunction in the hypothalamus), the genetic disorders Prader–Willi syndrome, and Bardet–Biedl syndrome. JX, LW, YH polyphagia AE 食欲过盛 WEB: http://en.wikipedia.org/wiki/Polyphagia 10020710 hyperphagia AE OAE:0001903 Corneal pigmentation is a eye AE shows that the melanin is in the superficial stroma and the basal layer of the corneal epithelium. JX, LW, YH WEB: http://medical-dictionary.thefreedictionary.com/corneal+pigmentation 角膜色素沉着 10011040 corneal pigmentation AE OAE:0001904 Chromatos AE is a skin AE shows that deposit of pigment in a normally unpigmented area or excessive pigmentation in a normally pigmented site. JX, LW, YH WEB: http://www.merriam-webster.com/medical/chromatosis 色素沉着 chromatosis AE OAE:0001905 Subclavian steal syndrome AE is an ischaemia AE that is a constellation of signs and symptoms that arise from retrograde (reversed) flow of blood in the vertebral artery or the internal thoracic artery, due to a proximal stenosis (narrowing) and/or occlusion of the subclavian artery. The arm may be supplied by blood flowing in a retrograde direction down the vertebral artery at the expense of the vertebrobasilar circulation. This is called the subclavian steal. JX, LW, YH subclavian steal phenomenon AE subclavian steal steno-occlusive disease AE 锁骨下动脉盗血综合征 10042335 subclavian steal syndrome AE OAE:0001906 Allergic rhinitis AE is a rhinitis AE that is an allergic inflammation of the nasal airways. It occurs when an allergen, such as pollen, dust, or animal dander (particles of shed skin and hair) is inhaled by an individual with a sensitized immune system. JX, LW, YH, MW WEB: http://en.wikipedia.org/wiki/Allergic_rhinitis 过敏性鼻炎 10001723 allergic rhinitis AE CTCAE:E13303 NCIt:C79532 OAE:0001907 Ventricular ectopic beats AE is a cardiac ventricular disorder AE that is a disturbance of the cardiac rhythm frequently related to the electrical conduction system of the heart, in which beats arise from fiber or group of fibers outside the region in the heart muscle ordinarily responsible for impulse formation. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Ectopic_beat 心室异位搏动 10058291 ventricular ectopic beats AE OAE:0001908 Sjogren syndrome AE is a eye AE that is a chronic autoimmune disease in which the body's white blood cells destroy the exocrine glands, specifically the salivary and lacrimal glands, that produce saliva and tears, respectively. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Sj%C3%B6gren's_syndrome 干燥综合症 10040767 sjogren syndrome AE OAE:0001909 Nocturia AE is a urine abnormality AE that is defined by the International Continence Society as “the complaint that the individual has to wake at night one or more times for voiding”. JX, LW, YH nycturia AE WEB: http://en.wikipedia.org/wiki/Nocturia 夜尿症 10029446 nocturia AE OAE:0001910 Night sweat is a sweating AE that is the occurrence of excessive sweating (hyperhidrosis and focal hyperhidrosis) during sleep. The sufferer may or may not also suffer from excessive perspiration while awake. JX, LW, YH sleep hyperhidrosis AE WEB: http://en.wikipedia.org/wiki/Night_sweats 夜汗 10029409 night sweat AE OAE:0001911 Increased appetite AE is a gustatory system AE that is when people want to eat much more often or in larger quantities than their body requires. JX, LW, YH WEB: http://www.healthline.com/symptom/increased-appetite 食欲增加 10021654 increased appetite AE OAE:0001912 Vascular dilatation headache AE is a headache AE that shows headache which caused by vascular dilatation. JX, LW, YH WEB: http://www.headaches.org/education/Headache_Topic_Sheets/Vascular_Headaches 血管扩张性头痛 vascular dilatation headache AE OAE:0001913 Bundle-branch block AE is a conduction system disorder AE that refers to a defect of the heart's electrical conduction system. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Bundle_branch_block 束支传导阻滞 10006578 bundle-branch block AE OAE:0001914 Unstable diabetes AE is a diabetes mellitus AE that is a type of diabetes when a person's blood glucose level often swings quickly from high to low and from low to high. JX, LW, YH brittle diabetes AE labile diabetes AE WEB: http://www.medicinenet.com/script/main/art.asp?articlekey=7271 不稳定型糖尿病 10006372 unstable diabetes AE OAE:0001915 Tendon rupture AE is a tendon disorder AE shows a tearing of the tendon that occurs when the forces placed upon the tendon exceed its tensile strength. JX, LW, YH WEB: http://medical-dictionary.thefreedictionary.com/Tendon+rupture 肌腱断裂 10043248 tendon rupture AE OAE:0001916 Tendovaginitis AE is an inflammation AE that is an acute or chronic inflammation of the tendon sheath, occurring in the region of the hand, the wrist joint, the forearm (radial and ulnar tenobursitis), the foot, the ankle joint, and the Achilles tendon (achillobursitis). JX, LW, YH tenovaginitis AE WEB: http://encyclopedia2.thefreedictionary.com/Tendovaginitis 腱鞘炎 10067216 tendovaginitis AE OAE:0001917 Loose stools AE is a abnormal stool AE that is usually a form of diarrhea and many conditions causing loose stool will be listed under diarrhea. It may also be related to watery stool (also within the spectrum of diarrhea). JX, LW, YH WEB: http://www.rightdiagnosis.com/sym/loose_stool.htm 稀便 10024840 loose stools AE OAE:0001918 Cystitis AE is an inflammation AE that is the medical term for inflammation of the bladder. Most of the time, the inflammation is caused by a bacterial infection, and it's called a urinary tract infection. JX, LW, YH WEB: http://www.mayoclinic.org/diseases-conditions/cystitis/basics/definition/con-20024076 膀胱炎 10011781 cystitis AE OAE:0001919 Eructation AE is a digestive system AE that is the release of gas from the digestive tract (mainly esophagus and stomach) through the mouth. It is usually accompanied with a typical sound and, at times, an odor. JX, LW, YH belching AE burping AE ructus AE WEB: http://en.wikipedia.org/wiki/Burping 嗳气 10015137 eructation AE OAE:0001920 Glossolalia AE is a speech disorder AE that is the fluid vocalizing of speech-like syllables that lack any readily comprehended meaning. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Glossolalia 语言不清 glossolalia AE OAE:0001921 Leg pain AE is a pain AE that is a common problem in leg, it can be due to a cramp, injury, or other cause. JX, LW, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/003182.htm 腿痛 10024130 leg pain AE OAE:0001922 Stomachache AE is a pain AE that the pain in or near your stomach. It is a common symptom associated with transient disorders or serious disease. JX, LW, YH abdominal pain AE stomach pain AE stomachache AE WEB: http://en.wikipedia.org/wiki/Abdominal_pain http://www.nhs.uk/conditions/stomach-ache-abdominal-pain/Pages/Introduction.aspx 胃痛 10042126 stomach ache AE CTCAE: E10460 NCIt: C26682 OAE:0001923 Conduction block AE is a conduction system disorder AE that shows failure of impulse transmission at some point along a nerve fiber, although conduction along the segments proximal and distal to it are unaffected. JX, LW, YH WEB: http://www.medilexicon.com/medicaldictionary.php?t=10757 传导阻滞 conduction block AE OAE:0001924 Photodermatitis AE is a dermatitis AE that referred to as sun poisoning or photoallergy, is a form of allergic contact dermatitis in which the allergen must be activated by light to sensitize the allergic response, and to cause a rash or other systemic effects on subsequent exposure. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Photodermatitis 光敏性皮炎 photodermatitis AE OAE:0001925 Pygalgia AE is a pain AE that is a rarely used term meaning pain in the buttocks. JX, LW, YH WEB: http://www.medilexicon.com/medicaldictionary.php?t=74312 臀痛 pygalgia AE OAE:0001926 Throat irritation AE is a discomfort AE that refers to a dry cough, a scratchy feeling at the back of the throat, or a sensation of a lumpy feeling or something stuck at the back of the throat. JX, LW, YH throat discomfort AE WEB: http://en.wikipedia.org/wiki/Throat_irritation 咽喉不适 10043521 throat irritation AE OAE:0001927 Interstitial nephritis AE is an inflammation AE that is a form of nephritis affecting the interstitium of the kidneys surrounding the tubules. This disease can be either acute, meaning it occurs suddenly, or chronic, meaning it is ongoing and eventually ends in kidney failure. JX, LW, YH tubulointerstitial nephritis AE WEB: http://en.wikipedia.org/wiki/Interstitial_nephritis 间质肾炎 10048302 interstitial nephritis AE OAE:0001928 Hoarseness AE is a hoarseness AE that refers to a difficulty making sounds when trying to speak. Vocal sounds may be weak, breathy, scratchy, or husky, and the pitch or quality of the voice may change. JX, LW, YH, MW WEB: http://www.nlm.nih.gov/medlineplus/ency/article/003054.htm 声音嘶哑 10020201 hoarseness AE CTCAE:E13384 NCIt:C47813 OAE:0001929 Photosensitization AE is a hypersensitivity AE that refers to development of abnormally heightened reactivity of the skin or eyes to sunlight. JX, LW, YH WEB: http://medical-dictionary.thefreedictionary.com/photosensitization 光敏 photosensitization AE OAE:0001930 Fanconi syndrome AE is a kidney AE that is a disease of the proximal renal tubules of the kidney in which glucose, amino acids, uric acid, phosphate and bicarbonate are passed into the urine, instead of being reabsorbed. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Fanconi_syndrome 范可尼综合征 10016219 fanconi syndrome AE OAE:0001931 Keratoconjunctivitis AE is an inflammation AE that is inflammation of the cornea and conjunctiva. When only the cornea is inflamed, it is called keratitis; when only the conjunctiva is inflamed, it is called conjunctivitis. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Keratoconjunctivitis 角膜结膜炎 10023348 keratoconjunctivitis AE OAE:0001932 Hepatic insufficiency AE is a liver disorder AE that shows a failure or partial failure of normal liver function. JX, LW, YH WEB: http://medical-dictionary.thefreedictionary.com/hepatic+insufficiency 肝功能不全 10056542 hepatic insufficiency AE OAE:0001933 Hypoxemia AE is a blood gas investigation result abnormal AE that is an abnormally low level of oxygen in the blood. More specifically, it is oxygen deficiency in arterial blood. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Hypoxemia 低血氧症 10021142 hypoxemia AE OAE:0001934 Irritant contact dermatitis AE is a dermatitis AE that is a form of contact dermatitis that can be divided into forms caused by chemical irritants and those caused by physical irritants. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Irritant_contact_dermatitis 刺激性接触性皮炎 irritant contact dermatitis AE OAE:0001935 Pitting edema AE is an edema AE that shows observable swelling of body tissues due to fluid accumulation that may be demonstrated by applying pressure to the swollen area (such as by depressing the skin with a finger). JX, LW, YH WEB: http://www.medicinenet.com/script/main/art.asp?articlekey=88528 指压性水肿 10054547 pitting edema AE OAE:0001936 Acute bronchitis AE is a bronchitis AE that is an inflammation of the large bronchi (medium-size airways) in the lungs that is usually caused by viruses or bacteria and may last several days or weeks. Characteristic symptoms include cough, sputum (phlegm) production, and shortness of breath and wheezing related to the obstruction of the inflamed airways. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Acute_bronchitis 急性支气管炎 10000687 acute bronchitis AE OAE:0001937 Renal calculus AE is a kidney AE that is a solid concretion or crystal aggregation formed in the kidneys from minerals in the urine. Kidney stones typically leave the body by passage in the urine stream, and many stones are formed and passed without causing symptoms. If stones grow to sufficient size (usually at least 3 millimeters (0.12 in)) they can cause blockage of the ureter. This leads to pain, most commonly beginning in the flank or lower back and often radiating to the groin or genitals. JX, LW, YH CTCAE: E13018 NCIt: C26807 kidney stone AE nephrolithiasis AE renal calculi AE WEB: http://en.wikipedia.org/wiki/Kidney_stone 肾结石 10038385 10038386 renal calculus AE OAE:0001938 Clouding of consciousness AE is a sensory capability AE that is a term used in conventional medicine denoting an abnormality in the "regulation" of the "overall level" of consciousness that is mild and less severe than a delirium. The sufferer experiences a subjective sensation of mental clouding described as feeling "foggy". JX, LW, YH brain fog AE mental fog AE WEB: http://en.wikipedia.org/wiki/Clouding_of_consciousness 意识模糊 clouding of consciousness AE OAE:0001939 Reflex tachycardia AE is a tachycardia AE that shows increased heart rate in response to some stimulus conveyed through the cardiac nerves. JX, LW, YH WEB: http://www.medilexicon.com/medicaldictionary.php?t=89526 反射性心动过速 10063096 reflex tachycardia AE OAE:0001940 Joint sprain AE is a joint disorder AE that is damage to one or more ligaments in a joint, often caused by trauma or the joint being taken beyond its functional range of motion. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Sprain 关节扭伤 10023229 joint sprain AE OAE:0001941 Epicondylitis AE is an inflammation AE that is a type of musculoskeletal disorder that refers to an inflammation of an epicondyle. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Epicondylitis 上髁炎 10014971 epicondylitis AE OAE:0001942 Melanoglosia AE is a tongue AE that shows tongue turn black. Any blackening of the tongue associated with certain disorders and diseases in animals and humans. JX, LW, YH WEB: http://encyclopedia2.thefreedictionary.com/melanoglosia 舌黑 10014971 melanoglosia AE OAE:0001943 Ventricular tachycardia AE is a tachycardia AE that is a type of tachycardia, or a rapid heart beat that arises from improper electrical activity of the heart presenting as a rapid heart rhythm, that starts in the bottom chambers of the heart, called the ventricles. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Ventricular_tachycardia 心室性心搏过速 10047302 ventricular tachycardia AE CTCAE: E10239 NCIt: C50802 OAE:0001944 Granulomatous hepatitis AE is a hepatitis AE that refers to an inflammatory liver disease associated with granuloma formation in the liver. JX, LW, YH WEB: http://radiopaedia.org/articles/granulomatous-hepatitis 肉芽肿性肝炎 granulomatous hepatitis AE OAE:0001945 Hypogeusia AE is a gustatory system AE that is a reduced ability to taste things (to taste sweet, sour, bitter, or salty substances). JX, LW, YH WEB: http://en.wikipedia.org/wiki/Hypogeusia 味觉减弱 10020989 hypogeusia AE OAE:0001946 Dysphoria AE is a behavior and neurological AE that is a profound state of unease or dissatisfaction. In a psychiatric context, dysphoria may accompany depression, anxiety, or agitation. Common reactions to dysphoria include emotional distress or indifference. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Dysphoria 烦躁不安 10013954 dysphoria AE OAE:0001947 Oneirism AE is a behavior and neurological AE that is a state of abnormal consciousness in which dream-like experiences and hallucinations happen while awake. JX, LW, YH WEB: http://en.wiktionary.org/wiki/oneirism 梦幻症 10030332 oneirism AE OAE:0001948 Podalgia AE is a pain AE that shows pain in the foot. JX, LW, YH WEB: http://en.wiktionary.org/wiki/podalgia 足痛 podalgia AE OAE:0001949 Brachialgia AE is a pain AE that shows pain in the arm. JX, LW, YH WEB: http://en.wiktionary.org/wiki/brachialgia 臂痛 10068901 brachialgia AE OAE:0001950 Coxalgia AE is a pain AE that shows pain in the hip. JX, LW, YH WEB: http://en.wiktionary.org/wiki/coxalgia 髋痛 10011249 coxalgia AE OAE:0001951 Limb injury AE is an injury AE which involve damage to bones, joints, ligament, musles, the major blood vessels and nerves of the limb. JX, LW, YH 肢体伤 10061225 limb injury AE OAE:0001952 Polymyalgia rheumatica AE is a muscle pain AE that is a syndrome with pain or stiffness, usually in the neck, shoulders, and hips. The pain can be very sudden, or can occur gradually over a period. It may be caused by an inflammatory condition of blood vessels such as temporal arteritis. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Polymyalgia_rheumatica 风湿性多发性肌痛 10036099 polymyalgia rheumatica AE OAE:0001953 Fibromyalgia AE is a muscle pain AE that is characterised by chronic widespread pain and allodynia (a heightened and painful response to pressure). Fibromyalgia symptoms are not restricted to pain, leading to the use of the alternative term fibromyalgia syndrome for the condition. Other symptoms include debilitating fatigue, sleep disturbance, and joint stiffness. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Fibromyalgia 纤维肌痛 10048439 fibromyalgia AE OAE:0001954 Hepatic encephalopathy AE is an encephalopathy AE that is the occurrence of confusion, altered level of consciousness, and coma as a result of liver failure. In the advanced stages it is called hepatic coma or coma hepaticum. JX, LW, YH portosystemic encephalopathy AE WEB: http://en.wikipedia.org/wiki/Hepatic_encephalopathy 10019660 hepatic encephalopathy AE OAE:0001955 a behavior and neurological AE AE that is an abnormal involuntary movement disorder, one of a group of neurological disorders called dyskinesias. JX, LW, YH choreia AE WEB: http://en.wikipedia.org/wiki/Chorea 舞蹈症 10008748 chorea AE OAE:0001956 Nightmare AE is a sleep disorder AE that is an unpleasant dream that can cause a strong emotional response from the mind, typically fear or horror but also despair, anxiety and great sadness. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Nightmare 梦魇 10029412 nightmare AE OAE:0001957 a psychiatric disorder AE that is an anomaly of self-awareness. It consists of a feeling of watching oneself act, while having no control over a situation. Subjects feel they have changed, and the world has become vague, dreamlike, less real, or lacking in significance. It can be a disturbing experience, since many feel that, indeed, they are living in a "dream". JX, LW, YH depersonalisation AE WEB: http://en.wikipedia.org/wiki/Depersonalization 人格解体 10012359 depersonalization AE OAE:0001958 a psychiatric disorder AE that refers to a state of mind where one is not disturbed by the passions. JX, LW, YH apathia AE WEB: http://en.wikipedia.org/wiki/Apatheia 情感冷漠 apatheia AE OAE:0001959 Parosmia AE is a sensory capability AE that is an olfactory dysfunction which is characterized by the inability of the brain to properly identify an odor’s “natural” smell. JX, LW, YH cacosmia AE troposmia AE 味觉倒错 WEB: http://en.wikipedia.org/wiki/Parosmia 10034018 parosmia AE OAE:0001960 Xerophthalmia AE is an eye AE that is a medical condition in which the eye fails to produce tears. JX, LW, YH xerophthalmus AE WEB: http://en.wikipedia.org/wiki/Xerophthalmia 干眼病 10048221 xerophthalmia AE OAE:0001961 Chondropathy AE is a bone disorder AE that refers to a disease of the cartilage. It is frequently divided into 5 grades, with 0-2 defined as normal, and 3-4 defined as diseased. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Chondropathy 软骨病 10061762 chondropathy AE OAE:0001962 Teratogenesis AE is a female reproductive system AE that is a prenatal toxicity characterized by structural or functional defects in the developing embryo or fetus. It also includes intrauterine growth retardation, death of the embryo or fetus, and transplacental carcinogenesis. JX, LW, YH WEB: http://www.britannica.com/EBchecked/topic/587782/teratogenesis 畸胎 teratogenesis AE OAE:0001963 Premature atrial contraction AE is an arrhythmia AE that is a common cardiac dysrhythmia characterized by premature heartbeats originating in the atria. JX, LW, YH atrial premature beats AE atrial premature complexes AE WEB: http://en.wikipedia.org/wiki/Premature_atrial_contraction 早搏 10056964 premature atrial contraction AE OAE:0001964 An inflammation AE that courrs in one or both parotid glands, the major salivary glands located on either side of the face, in humans. The parotid gland is the salivary gland most commonly affected by inflammation. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Parotitis 腮腺炎 10034038 parotitis AE OAE:0001965 Glossitis AE is an inflammation AE that can mean soreness of the tongue, or more usually inflammation with depapillation of the dorsal surface of the tongue, leaving a smooth and erythematous surface. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Glossitis 舌炎 10018386 glossitis AE OAE:0001966 Genital edema AE is an edema AE that can be the result of interruption to the lymphatic drainage of this area caused by tumor, surgical removal of lymph nodes, radiotherapy or infection. Congenital disorders causing inadequate lymphatics can sometimes lead to the development of this condition. JX, LW, YH, MW WEB: http://www.lymphoedemanz.org.nz/About+Lymphoedema/Genital+Oedema.html 生殖器水肿 10018146 genital edema AE CTCAE:E13111 NCIt:C78324 OAE:0001967 Orgasm incapacity AE is a reproductive system AE that the disorder characterized by an inability to achieve orgasm. JX, LW, YH 缺乏性高潮 orgasm incapacity AE OAE:0001968 Sedation AE is a behavior and neurological AE that is the reduction of irritability or agitation by administration of sedative drugs, generally to facilitate a medical procedure or diagnostic procedure. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Sedation 镇静 10039897 sedation AE OAE:0001969 Sinus bradycardia AE is a bradycardia AE that is a heart rhythm that originates from the sinus node and has a rate that is lower than normal. In humans, bradycardia is generally defined to be a rate of under 60 beats per minute. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Sinus_bradycardia 窦性心动过缓 10040741 sinus bradycardia AE CTCAE: E10208 NCIt: C26923 OAE:0001970 Cardiac output decreased AE is a cardiac disorder AE that shows a state in which the blood pumped by an individual's heart is sufficiently reduced that it is inadequate to meet the needs of the body's tissues. Cardiac output is the volume of blood being pumped by the heart, in particular by a left or right ventricle in the time interval of one minute. JX, LW, YH WEB: http://www1.us.elsevierhealth.com/MERLIN/Gulanick/archive/Constructor/gulanick10.html http://en.wikipedia.org/wiki/Cardiac_output 心输出量减少 10007595 cardiac output decreased AE OAE:0001971 Steatorrhea AE is a digestive system AE that is the presence of excess fat in feces. Stools may also float due to excess lipid, have an oily appearance and can be especially foul-smelling. JX, LW, YH steatorrhoea AE WEB: http://en.wikipedia.org/wiki/Steatorrhea 脂溢 10041968 steatorrhea AE OAE:0001972 Malabsorption syndrome AE is a digestive system AE that refers to a number of disorders in which the intestine’s ability to absorb certain nutrients, such as vitamin B12 and iron, into the bloodstream is negatively affected. JX, LW, YH WEB: http://www.healthline.com/health/malabsorption#Overview1 吸收不良综合症 10025479 malabsorption syndrome AE OAE:0001973 Sialadenitis AE is an inflammation AE that is inflammation of a salivary gland. It may be subdivided temporally into acute, chronic and recurrent forms. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Sialadenitis 唾液腺炎 10040627 sialadenitis AE OAE:0001974 a nervous system AE that shows a degenerative disorder of the central nervous system. The motor symptoms of Parkinson's disease result from the death of dopamine-generating cells in the substantia nigra, a region of the midbrain, the cause of this cell death is unknown. JX, LW, YH choreia AE hypokinetic rigid syndrome AE idiopathic/primary parkinsonism AE paralysis agitans AE WEB: http://en.wikipedia.org/wiki/Parkinson's_disease 帕金森综合症 10061536 parkinson's disease AE OAE:0001975 Urinary calculus AE a urinary system AE that is solid particles in the urinary system. They may cause pain, nausea, vomiting, hematuria, and, possibly, chills and fever due to secondary infection. JX, LW, YH urinary calculi AE WEB: http://www.merckmanuals.com/professional/genitourinary_disorders/urinary_calculi/urinary_calculi.html 尿结石 10046531 urinary calculus AE OAE:0001976 Sinoatrial block AE is a conduction system disorder AE that shows the electrical impulse is delayed or blocked on the way to the atria, thus delaying atrial depolarization. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Sinoatrial_block 窦房阻滞 10040736 sinoatrial block AE OAE:0001977 Hyperthyroidism AE is an endocrine system AE that is a condition in which the thyroid gland produces and secretes excessive amounts of the free (not protein bound circulating in the blood) thyroid hormones -triiodothyronine (T3) and/or thyroxine (T4). JX, LW, YH WEB: http://en.wikipedia.org/wiki/Hyperthyroidism 甲状腺机能亢进 10020850 hyperthyroidism AE CTCAE: E10322 NCIt: C3123 OAE:0001978 Akathisia AE is a behavior and neurological AE that is a movement disorder characterized by a feeling of inner restlessness and a compelling need to be in constant motion, as well as by actions such as rocking while standing or sitting, lifting the feet as if marching on the spot, and crossing and uncrossing the legs while sitting. People with akathisia are unable to sit or keep still, complain of restlessness, fidget, rock from foot to foot, and pace. JX, LW, YH, MW acathisia AE WEB: http://en.wikipedia.org/wiki/Akathisia 静坐困难 10001540 akathisia AE CTCAE:E12581 NCIt:C78163 OAE:0001979 Retinopathy AE is an eye AE that is due to persistent or acute damage to the retina of the eye. Ongoing inflammation and vascular remodeling may occur over periods of time where the patient is not fully aware of the extent of the disease. Frequently, retinopathy is an ocular manifestation of systemic disease as seen in diabetes or hypertension. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Retinopathy 视网膜病变 10038923 retinopathy AE CTCAE: E10432 NCIt: C62601 OAE:0001980 Sinus arrest AE is an arrhythmia AE that is a medical condition wherein the sinoatrial node of the heart transiently ceases to generate the electrical impulses that normally stimulate the myocardial tissues to contract and thus the heart to beat. It is defined as lasting from 2.0 seconds to several minutes. JX, LW, YH sinoatrial arrest AE sinus pause AE WEB: http://en.wikipedia.org/wiki/Sinoatrial_arrest 窦性停搏 10040738 sinus arrest AE OAE:0001981 ST segment depression AE is an electrocardiogram result abnormal AE that refers to a finding on an electrocardiogram. It may be determined by measuring the vertical distance between the patient's trace and the isoelectric line at a location 2-3 millimeters from the QRS complex. It is significant if it is more than 1 mm in V5-V6, or 1.5 mm in AVF or III. JX, LW, YH WEB: http://en.wikipedia.org/wiki/ST_depression ST段下降 10041892 ST segment depression AE OAE:0001982 T-wave inversion AE is an electrocardiogram result abnormal AE that can be a sign of coronary ischemia, Wellens' syndrome, left ventricular hypertrophy, or CNS disorder. In electrocardiography, the T wave represents the repolarization (or recovery) of the ventricles. JX, LW, YH WEB: http://en.wikipedia.org/wiki/T_wave T波倒置 10042966 T-wave inversion AE OAE:0001983 Hyperthermia AE is an abnormal body temperature AE that is elevated body temperature due to failed thermoregulation that occurs when a body produces or absorbs more heat than it dissipates. Extreme temperature elevation then becomes a medical emergency requiring immediate treatment to prevent disability or death. JX, LW, YH, SJ WEB: http://en.wikipedia.org/wiki/Hyperthermia 体温过高 10020843 hyperthermia AE OAE:0001984 Priapism AE a male reproductive system AE that is a potentially painful medical condition in which the erect penis does not return to its flaccid state, despite the absence of both physical and psychological stimulation, within four hours. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Priapism 阴茎持续勃起 10036661 priapism AE OAE:0001985 Gingival bleeding AE is a hemorrhage AE that is a term used by dentists and dental hygienists when referring to bleeding that is induced by gentle manipulation of the tissue at the depth of the gingival sulcus, or interface between the gingiva and a tooth. Bleeding on probing, often abbreviated BOP, is a sign of inflammation and indicates some sort of destruction and erosion to the lining of the sulcus or the ulceration of sulcular epithelium. The blood comes from lamina propria after the ulceration of the lining. JX, LW, YH bleeding gums AE bleeding on probing AE WEB: http://en.wikipedia.org/wiki/Bleeding_on_probing 牙龈出血 10018276 gingival bleeding AE OAE:0001986 a hearing disorder AE that is a partial or total inability to hear. In children it may affect the development of language and can cause work related difficulties for adults. JX, LW, YH anacusis AE deafness AE hard of hearing AE hearing impaired AE hearing impairment AE WEB: http://en.wikipedia.org/wiki/Hearing_loss 听力下降 10019245 10019246 hearing loss AE CTCAE: E10276 NCIt: C50576 OAE:0001987 Muscle fatigue AE is a muscle adverse event that is the decline in ability of a muscle to generate force. It can be a result of vigorous exercise but abnormal fatigue may be caused by barriers to or interference with the different stages of muscle contraction. JX, LW, YH physical fatigue AE WEB: http://en.wikipedia.org/wiki/Muscle_fatigue 肌肉疲劳 10049565 muscle fatigue AE OAE:0001988 Regurgitation AE is a digestive system AE that is the expulsion of material from the pharynx, or esophagus, usually characterized by the presence of undigested food or blood. JX, LW, YH http://en.wikipedia.org/wiki/Regurgitation_%28digestion%29 反胃 10067171 regurgitation AE OAE:0001989 Skin irritation AE is a skin AE that is a mild inflammatory dermal tissue reaction, it can be caused by physical contact with an irritant or can be a local response to a systemic trigger. JX, LW, YH 皮肤刺激 10040880 skin irritation AE OAE:0001990 a herpes viral infection AE tha is caused by both Herpes simplex virus type 1 (HSV-1) and type 2 (HSV-2). JX, LW, YH herpes catarrhalis AE WEB: http://en.wikipedia.org/wiki/Herpes_simplex 单纯疱疹 10019948 herpes simplex AE OAE:0001991 Measles AE is a viral infection AE is an infection of the respiratory system, immune system and skin caused by a virus, specifically a paramyxovirus of the genus Morbillivirus. JX, LW, YH English measles AE morbilli AE rubeola AE WEB: http://en.wikipedia.org/wiki/Measles 麻疹 10027011 measles AE OAE:0001992 Hypercholesteremia AE is a blood cholesterol abnormal AE that is the presence of high levels of cholesterol in the blood. JX, LW, YH cholesterol high AE dyslipidemia hypercholesterolemia AE WEB: http://en.wikipedia.org/wiki/Hypercholesterolemia 高胆固醇血症 10005425 10008661 10020604 hypercholesteremia AE OAE:0001993 Toxic epidermal necrolysis AE is a skin AE that is a rare, life-threatening skin condition which is usually caused by a reaction to drugs. JX, LW, YH, MW Lyell's syndrome AE WEB: http://en.wikipedia.org/wiki/Toxic_epidermal_necrolysis 中毒性表皮坏死溶解症 10044223 toxic epidermal necrolysis AE CTCAE:E13743 NCIt:C79777 OAE:0001994 Atrioventricular junctional rhythm AE is an arrhythmia AE that is an electrocardiographic finding in which the pacer of the heart is located in the AV junction, presenting with a narrow QRS complex and a rate of 40-60 beats per minute. JX, LW, YH 房室交界性心律 atrioventricular junctional rhythm AE OAE:0001995 Unconsciousness AE is a sensory capability AE that is a state which occurs when the ability to maintain a awareness of self and environment is lost, it involves a complete or near-complete lack of responsiveness to people and other environmental stimuli. JX, LW, YH loss of consciousness AE WEB: http://en.wikipedia.org/wiki/Unconsciousness 意识丧失 10045481 unconsciousness AE OAE:0001996 Pemphigus AE is a skin AE that is a rare group of blistering autoimmune diseases that affect the skin and mucous membranes. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Pemphigus 天疱疮 10034280 pemphigus AE OAE:0001997 Onychomycosis AE is a nail infection AE that is a fungal infection of the nail. It is the most common disease of the nails and constitutes about half of all nail abnormalities. JX, LW, YH dermatophytic onychomycosis AE tinea unguium AE WEB: http://en.wikipedia.org/wiki/Onychomycosis 甲癣 onychomycosis AE OAE:0001998 Miosis AE is an eye AE that is a term with various definitions, which generally include constriction of the pupil. JX, LW, YH myosis AE WEB: http://en.wikipedia.org/wiki/Miosis 瞳孔缩小 10027646 miosis AE OAE:0001999 an optic neuropathy AE that shows the loss of some or most of the nerve fibers in the optic nerve. The effects range from visual change to severe visual loss. JX, LW, YH WEB: http://www.kellogg.umich.edu/patientcare/conditions/optic.atrophy.html 视神经萎缩 10030910 optic atrophy AE OAE:0002000 Albuminuria AE is a urine abnormality AE that is a pathological condition wherein albumin is present in the urine. It is a type of proteinuria. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Albuminuria 蛋白尿 10001580 albuminuria AE OAE:0002001 Enuresis AE is a urine abnormality AE that refers to a repeated inability to control urination. Use of the term is usually limited to describing individuals old enough to be expected to exercise such control. This term appears to be a synonym to the 'urinary incontinence AE'. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Enuresis 遗尿 10014928 enuresis AE OAE:0002002 Gum hypertrophy AE is a digestive system AE that is an increase in the size of the gingiva (gums). It is a common feature of gingival disease. Gingival enlargement can be caused by a number of factors, including inflammatory conditions and the side effects of certain medications. JX, LW, YH gingival enlargement AE gingival hyperplasia AE gingival hypertrophy AE gingival over-growth AE hypertrophic gingivitis AE WEB: http://en.wikipedia.org/wiki/Gingival_enlargement 牙龈增生 10018781 gum hypertrophy AE OAE:0002003 Contact dermatitis AE is a dermatitis AE that is a type of skin inflammation.It results from exposure to allergens (allergic contact dermatitis) or irritants (irritant contact dermatitis). Phototoxic dermatitis occurs when the allergen or irritant is activated by sunlight. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Contact_dermatitis 接触性皮炎 10010790 contact dermatitis AE OAE:0002004 Necrotizing vasculitis AE is a vasculitis AE that is a rare condition which involves inflammation of the blood vessel walls. JX, LW, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/000432.htm 坏死性血管炎 10028892 necrotizing vasculitis AE OAE:0002005 Carpal tunnel syndrome AE is a peripheral neuropathy AE that is a median entrapment neuropathy that causes paresthesia, pain, numbness, and other symptoms in the distribution of the median nerve due to its compression at the wrist in the carpal tunnel. JX, LW, YH median nerve neuropathy AE WEB: http://emedicine.medscape.com/article/1141168-clinical#showall WEB: http://en.wikipedia.org/wiki/Carpal_tunnel_syndrome 腕管综合征 10007697 carpal tunnel syndrome AE OAE:0002006 Erythromelalgia AE is a peripheral arterial disease AE that is a rare neurovascular peripheral pain disorder in which blood vessels, usually in the lower extremities or hands, are episodically blocked (frequently on and off daily), then become hyperemic and inflamed. JX, LW, YH Mitchell's disease AE acromelalgia AE erythermalgia AE red neuralgia AE WEB: http://en.wikipedia.org/wiki/Erythromelalgia 红斑性肢痛症 10015284 erythromelalgia AE OAE:0002007 a syndrome AE which results in the Raynaud's syndrome, a rare disease causes some areas of your body — such as your fingers and toes — to feel numb and cold in response to cold temperatures or stress. In Raynaud's disease, smaller arteries that supply blood to your skin narrow, limiting blood circulation to affected areas (vasospasm). JX, LW, YH Raynaud's disease AE Raynaud's phenomenon AE WEB: http://www.mayoclinic.org/diseases-conditions/raynauds-disease/basics/definition/con-20022916 雷诺综合症 10037914 Raynaud's syndrome AE OAE:0002008 Extrapyramidal syndrome AE is a nervous system AE that is drug induced movement disorders which include acute and tardive symptoms. JX, LW, YH extrapyramidal side effects AE vertebral body outside the beam syndrome AE WEB: http://en.wikipedia.org/wiki/Extrapyramidal_symptoms 椎体外系综合征 10015836 extrapyramidal syndrome AE OAE:0002009 an electrolyte lab test abnormal AE that is when the kidneys hold on to more sodium and do not excrete it with the kidneys. This tends to expand the blood volume, which can elevate the blood pressure. JX, LW, YH WEB: https://answers.yahoo.com/question/index?qid=20100823074826AAcg7WV 钠潴留 10041277 sodium retention AE OAE:0002010 complex regional pain syndrome AE is a pain AE that results in an uncommon form of chronic pain that usually affects an extremity. SJ, YH WEB: http://www.mayoclinic.org/diseases-conditions/complex-regional-pain-syndrome/basics/definition/con-20022844 10064332 Complex regional pain syndrome typically develops after an injury, surgery, stroke or heart attack, but the pain is out of proportion to the severity of the initial injury. complex regional pain syndrome AE OAE:0002011 Sciatica AE is a pain AE that is a set of symptoms including pain caused by general compression or irritation of one of five spinal nerve roots of each sciatic nerve or by compression or irritation of the left or right or both sciatic nerves. JX, LW, YH lumbar radiculopathy AE sciatic neuralgia AE sciatic neuritis AE WEB: http://en.wikipedia.org/wiki/Sciatica 坐骨神经痛 10039674 sciatica AE OAE:0002012 Joint stiffness AE is a joint disorder AE that may be either the symptom of pain on moving a joint, the symptom of loss of range of motion or the physical sign of reduced range of motion. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Joint_stiffness 关节僵硬 10023230 joint stiffness AE OAE:0002013 Breast engorgement AE is a reproductive system AE that occurs in the mammary glands due to expansion and pressure exerted by the synthesis and storage of breast milk. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Breast_engorgement 乳房充盈 10006240 breast engorgement AE OAE:0002014 Nervous tension AE is a behavior and neurological AE that might be said to be a physical expression of how people deal with negatively experienced emotion. JX, LW, YH WEB: http://helpmetosleep.org/featured-articles/how-to-relieve-nervous-tension/ 神经紧张 10029214 nervous tension AE OAE:0002015 Nervousness AE is a behavior and neurological AE that shows an uneasy psychological state which including anxiety, neurosis, neuroticism, and worry, etc. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Nervousness 神经过敏 10029216 nervousness AE OAE:0002016 Osteoarthritis AE is an arthritis AE that is a group of mechanical abnormalities involving degradation of joints, including articular cartilage and subchondral bone. Osteoarthritis is not an inflammatory disease even-though the name suggest one. Symptoms may include joint pain, tenderness, stiffness, locking, and sometimes an effusion. JX, LW, YH degenerative arthritis AE degenerative joint disease AE osteoarthrosis AE WEB: http://en.wikipedia.org/wiki/Osteoarthritis 骨关节炎 10031161 osteoarthritis AE OAE:0002017 Methemoglobinemia AE is a red blood cell profile abnormal AE that is a disorder characterized by the presence of a higher than normal level of methemoglobin (metHb, i.e., ferric [Fe3+] rather than ferrous [Fe2+] haemoglobin) in the blood. It's a form of hemoglobin that contains ferric [Fe3+] iron and has a decreased ability to bind oxygen. JX, LW, YH methaemoglobinaemia AE WEB: http://en.wikipedia.org/wiki/Methemoglobinemia 高铁血红蛋白症 10027506 methemoglobinemia AE OAE:0002018 Hemiageusia AE is a ageusia AE that shows loss of taste from one side of the tongue. JX, LW, YH hemiageustia AE hemigeusia AE WEB: http://www.medilexicon.com/medicaldictionary.php?t=39885 偏侧味觉缺失 hemiageusia AE OAE:0002019 Skin swelling AE is an edema AE that has an outcome of the occurrence of swelling which is located on the skin. JX, LW, YH WEB: http://www.rightdiagnosis.com/sym/skin_swelling.htm 胕肿 10053262 skin swelling AE OAE:0002020 Fibrosing alveolitis AE is a lung inflammation AE that is a disease of unknown cause mainly involving the gas-exchanging portions of the lungs. It may occur in isolation and be called cryptogenic or idiopathic, in which case the clinical manifestations are mainly respiratory, or it may be associated with other disorders, such as rheumatoid arthritis. JX, LW, YH WEB: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1818528/ 纤维化肺泡炎 10016640 fibrosing alveolitis AE OAE:0002021 an electrolyte chloride abnormal AE where the patient's body has abnormally low levels of chloride. This condition usually results from an extremely high loss of chloride, rather than a low intake of it. JX, LW, YH WEB: http://www.wisegeek.com/what-is-hypochloremic-alkalosis.htm 低氯性碱中毒 10020958 hypochloremic alkalosis AE OAE:0002022 Erythema annulare centrifugum AE is an erythema AE that is a descriptive term for a skin lesion. The lesions form consists of redness (erythema) in a ring form (anulare) that spreads from the center (centrifugum). JX, LW, YH MedDRA: 10015154 deep gyrate erythema AE erythema perstans AE palpable migrating erythema AE superficial gyrate erythema AE WEB: http://en.wikipedia.org/wiki/Erythema_annulare_centrifugum 离心性环形红斑 erythema annulare centrifugum AE OAE:0002023 Irritation is a behavior and neurological AE that is a state of inflammation or painful reaction to allergy or cell-lining damage. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Irritation 刺激 10029216 irritation AE OAE:0002024 a psychiatric disorder AE that is a fundamental personality trait in the study of psychology characterized by anxiety, fear, moodiness, worry, envy, frustration, jealousy, and loneliness. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Neuroticism 神经质 neuroticism AE OAE:0002025 Hyperirritability AE is a behavior and neurological AE that shows abnormally great or uninhibited response to stimuli. This term appears to be a synonym to the 'irritability AE'. JX, LW, YH WEB: http://www.merriam-webster.com/medical/hyperirritability; http://en.wikipedia.org/wiki/Irritability 过激 hyperirritability AE OAE:0002026 Rhinostenosis AE is a respiratory system AE that shows narrowing or obliteration of the nasal airway by scar formation JX, LW, YH WEB: http://www.drugs.com/dict/rhinostenosis.html 鼻道狭窄 rhinostenosis AE OAE:0002027 Sino-auricular heart-block AE is a conduction system disorder AE that refers to a rare heart condition caused by abnormalities in the heart's electrical system rather than arterial disease. JX, LW, YH WEB: http://www.rightdiagnosis.com/s/sino_auricular_heart_block/intro.htm 窦房传导阻滞 sino-auricular heart-block AE OAE:0002028 Anisosphygmia AE is a cardiovascular disorder AE that shows difference in volume, force, or time of the pulse in the corresponding arteries on two sides of the body, the two radials, or femorals. JX, LW, YH WEB: http://www.medilexicon.com/medicaldictionary.php?t=4352 脉搏不规则 anisosphygmia AE OAE:0002029 Rubefaction AE is a skin AE that refers to erythema of the skin caused by local application of a counterirritant. JX, LW, YH WEB: http://www.medilexicon.com/medicaldictionary.php?t=79112 发红 rubefaction AE OAE:0002030 Myodystony AE is an abnormal muscle tone AE that refers to a condition of slow relaxation, interrupted by a succession of slight contractions, following electrical stimulation of a muscle. JX, LW, YH WEB: http://www.drugs.com/dict/myodystony.html 肌张力不全 myodystony AE OAE:0002031 Allotriosmia is a behavior and neurological AE that shows incorrect recognition of odors. JX, LW, YH heterosmia AE WEB: http://www.medilexicon.com/medicaldictionary.php?t=2401 嗅觉异常 10029216 allotriosmia AE OAE:0002032 Pharyngotonsillitis is an inflammation AE that is a medical condition characterized by an inflammation of both the tonsils and the pharynx (located at the back of the throat). It occurs due to viral or bacterial infections. JX, LW, YH WEB: http://www.persify.com/en/perspectives/medical-conditions-diseases/pharyngotonsillitis-_-951000101807 咽扁桃体炎 10049140 pharyngotonsillitis AE OAE:0002033 Hypersensitivity pneumonitis AE is a pneumonia AE that is an inflammation of the alveoli within the lung caused by hypersensitivity to inhaled organic dusts. Sufferers are commonly exposed to the dust by their occupation or hobbies. JX, LW, YH extrinsic allergic alveolitis AE WEB: http://en.wikipedia.org/wiki/Hypersensitivity_pneumonitis 过敏性肺炎 10015887 hypersensitivity pneumonitis AE OAE:0002034 Stagger AE is a movement disorder AE that shows an unsteady movement of the body in walking or standing, as if one were about to fall. JX, LW, YH WEB: http://en.wiktionary.org/wiki/stagger 蹒跚 stagger AE OAE:0002035 Myocardial anoxia AE is a hypoxia AE that shows a reduced concentration of O2 in the myocardium. JX, LW, YH 心肌缺氧 myocardial anoxia AE OAE:0002036 Biliary colic AE is a pain AE that is the term used to describe a type of pain related to the gallbladder that occurs when a gallstone transiently obstructs the cystic duct and the gallbladder contracts. JX, LW, YH cholecystalgia AE WEB: http://en.wikipedia.org/wiki/Biliary_colic 胆绞痛 10004663 biliary colic AE OAE:0002037 Hyperemia AE is a cardiovascular disorder AE that is the increase of blood flow to different tissues in the body. It can have medical implications, but is also a regulatory response, allowing change in blood supply to different tissues through vasodilation. JX, LW, YH hyperaemia AE WEB: http://en.wikipedia.org/wiki/Hyperaemia 充血 hyperemia AE OAE:0002038 a sensory capability AE that has an outcome increased sensitivity to pain in a patient RR WEB: http://www.oxforddictionaries.com/us/definition/american_english/tenderness 10043224 tenderness AE OAE:0002039 a skin AE with the outcome of induration, which is an increase in the fibrous elements in tissue commonly associated with inflammation and marked by loss of elasticity and pliability or a hardened mass or formation RR WEB: http://www.merriam-webster.com/medical/induration 10060708 induration AE OAE:0002040 an eye AE which has an outcome of a foreign body sensation in the eye, or the sensation that something is in or scratching the eye RR WEB: http://www.richmondeye.com/eyehealth_foreignbody/ 10051116 foreign body sensation in eyes AE OAE:0002041 a cellulititis AE that occurs at an injection-site. RR WEB: http://www.nhs.uk/Conditions/Cellulitis/Pages/Symptoms.aspx 10050057 injection site cellulitis AE OAE:0002042 a sensory capability AE that has an outcome of peripheral coldness, or coldness of extremeties RR WEB: http://www.patient.co.uk/leaflets/peripheral_coldness.htm 10034568 peripheral coldness AE OAE:0002043 a hypoaesthesia AE that has an outcome of a decrease in facial sensitivity RR hypoaesthesia facial AE hypoesthesia facial AE WEB: http://www.webster-dictionary.org/definition/hypoesthesia 10065312 hypoesthesia facial AE OAE:0002044 a sleep disorder AE that shows poor quality sleep RR 10062519 poor quality sleep AE OAE:0002045 a rash AE characterized by the formation of vesicles RR rash vesicular AE WEB: http://www.merriam-webster.com/medical/vesicular 10037898 vesicular rash AE OAE:0002046 a discomfort AE that occurs at a limb RR 10061224 limb discomfort AE OAE:0002047 an eye disorder AE which has an outcome of discoloration of the sclera, or the whites of the eyes RR scleral discolouration AE 10039696 scleral discoloration AE OAE:0002048 an urticaria AE that occurs in an injection site RR WEB: http://www.uptodate.com/contents/hives-urticaria-beyond-the-basics 10022107 injection site urticaria AE OAE:0002049 a behavior and neurological AE that results in dysstasia, or difficulty standing RR WEB: http://www.medilexicon.com/medicaldictionary.php?t=27458 10050256 dysstasia AE OAE:0002050 a sensory capability AE that has an outcome of hyperaesthesia, meaning unusual or pathological sensitivity of the skin or of a particular sense RR hyperaesthesia AE WEB: http://www.merriam-webster.com/dictionary/hyperesthesia 神经过敏 10020568 hyperesthesia AE OAE:0002051 a nuclear magnetic resonance imaging result abnormal AE that has an outcome of abnormal nuclear magnetic resonance imaging test of the spinal cord RR 10069585 nuclear magnetic resonance imaging spinal cord abnormal AE OAE:0002052 an eye disorder AE which has an outcome of ocular icterus, or jaundice of the eye RR WEB: http://www.merriam-webster.com/dictionary/icterus 10058117 ocular icterus AE OAE:0002053 An edema AE that occurs in the mouth RR oedema mouth AE 10030110 edema mouth AE OAE:0002054 a respiratory system AE which has an outcome of painful respiration, an unpleasant sensation ranging from mild discomfort to unbearable agony while breathing RR WEB: http://www.healthline.com/health/painful-respiration 10033517 painful respiration AE OAE:0002055 a neurological, special senses and psychiatric investigation result abnormal AE that results in an abnormal ophthalmological examination RR 10056836 ophthalmological examination abnormal AE OAE:0002056 an optic neuropahty AE which shows an infarction of the optic disk which presents as painless vision loss RR optic ischemic neuropathy AE WEB: http://www.geteyesmart.org/eyesmart/diseases/ischemic-optic-neuropathy/ WEB: http://www.merckmanuals.com/professional/eye_disorders/optic_nerve_disorders/ischemic_optic_neuropathy.html 10030924 ischemic optic neuropathy AE OAE:0002057 a bacterial infection AE with an outcome of Lyme disease, a tick-bourne illness cause by the bacterium B. burgdorferi that causes dermatologic, rheumatologic, neurologic, and cardiac abnormalities RR WEB: http://wwwn.cdc.gov/nndss/script/casedef.aspx?CondYrID=752&DatePub=1/1/2011 10025169 lyme disease AE OAE:0002058 a pain AE that has an outcome of lymph node pain RR 10025182 lymph node pain AE CTCAE: E10052 NCIt: C78440 OAE:0002059 RR 10024860 a movement disorder AE that has an outcome of loss of control of patient's legs loss of control of legs AE OAE:0002060 a vascular disorder AE that has an outcome of levedo reticularis, a condition of the peripheral blood vessels characterized by reddish blue mottling of the skin especially of the extremeties usually upon exposure to cold RR WEB: http://www.merriam-webster.com/medical/livedo%20reticularis 10024648 livedo reticularis AE OAE:0002061 a muscle adverse event AE that has an outcome of muscle strain, which happens when a muscle is stretched too much and tears RR pulled muscle AE WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001109/ 10050031 muscle strain AE OAE:0002062 a muscle adverse event AE that has an outcome of muscle tightness, which is a tense feeling in muscles RR WEB: http://www.chirocommunity.com/muscletightness.htm 10049816 muscle tightness AE OAE:0002063 a muscle adverse event AE that has an outcome of muscle rigidity, a state of continuous firm, tense muscles with marked resistance to passive movement RR WEB: http://www.healthline.com/symptom/muscle-rigidity 肌肉僵硬 10028330 muscle rigidity AE OAE:0002064 Miller Fisher syndrome is a rare, acquired nerve disease that is considered to be a variant of Guillain-Barre syndrome. It is characterized by abnormal muscle coordination, paralysis of the eye muscles, and absence of the tendon reflexes RR WEB: http://www.ninds.nih.gov/disorders/miller_fisher/miller_fisher.htm 10049567 Miller Fisher syndrome AE OAE:0002065 a hypersensitivity AE which has an outcome of type III immune complex mediated reaction, a type of hypersensitivity reaction in which circulating antigen-antibody immune complexes are deposited in post-capillary venules, with subsequent complement fixation RR WEB: http://emedicine.medscape.com/article/136217-overview 10053614 type III immune complex mediated reaction AE OAE:0002066 a tonsilitis AE with the outcome of tonsilar hypertrophy, or enlargement of the tonsils RR WEB: http://www.cchi.com.hk/symposia/s3_ear_1.htm 10044003 tonsilar hypertrophy AE OAE:0002067 a sensory capability AE that results in temperature intolerance RR 10057040 temperature intolerance AE OAE:0002068 a sensory capability AE that results in the patient being unresponsive to stimuli RR 10045555 unresponsive to stimuli AE OAE:0002069 a respiratory system AE that shows discolored sputum RR 10041806 sputum discolored AE OAE:0002070 a musculoskeletal system AE that has an outcome of spinal column stenosis, or narrowing of spaces in the spine that results in pressure on the spinal cord and/or nerve roots RR WEB: http://www.niams.nih.gov/Health_Info/Spinal_Stenosis/ 10041540 spinal column stenosis AE OAE:0002071 a skin AE with the outcome of skin tightness RR 10050637 skin tightness AE OAE:0002072 a pain AE with the outcome of ligament pain RR 10068790 ligament pain AE OAE:0002073 a thrombocytopenic purpura AE with no known cause (idiopathic). Idiopathic thrombocytopenic purpura is a bleeding disorder in which the immune system destroys platelets, which are necesssary for normal blood clotting. Persons with this disorder have too few platelets in the blood. RR WEB: http://www.nlm.nih.gov/medlineplus/ency/article/000535.htm 特发性血小板减少性紫癜 10021245 idiopathic thrombocytopenic purpura AE OAE:0002074 A palsy AE that shows cerebral palsy, a disorder of movement, muscle tone, or posture that is caused by an insult to the immature, developing brain, most often before birth RR WEB: http://www.mayoclinic.org/diseases-conditions/cerebral-palsy/basics/definition/con-20030502 10008129 cerebral palsy AE OAE:0002075 a neurological AE with the outcome of chronic inflammatory demyelinating polyradiculoneuropathy, a neurological disorder characterized by progressive weakness and impaired sensory function in the legs and arms caused by damage to the myelin sheath of the peripheral nerves RR WEB: http://www.ninds.nih.gov/disorders/cidp/cidp.htm 10057645 chronic inflammatory demyelinating polyradiculoneuropathy AE OAE:0002076 an allergy AE which displays an allergic skin response following contact of an allergen, with the skin typically marked by an itchy red rash often accompanied by swelling and watery blisters. RR, JX, YH dermatitis allergic AE WEB: http://www.merriam-webster.com/dictionary/allergic%20contact%20dermatitis 10012434 allergic dermatitis AE OAE:0002077 a behavior and neurological AE with an outcome of the patient refusing to eat RR 10012775 diet refusal AE OAE:0002078 an abnormal blood pressure AE that has an outcome of blood pressure fluctuations RR 10005746 blood pressure fluctuation AE OAE:0002079 a digestive system AE which has an outcome of aphagia, which is the loss of the ability to swallow RR WEB: http://www.merriam-webster.com/medical/aphagia 10049866 aphagia AE OAE:0002080 a speech disorder AE with an outcome of aphonia, or loss of voice and of all but whispered speech RR, MW WEB: http://www.merriam-webster.com/dictionary/aphonia 10002953 aphonia AE CTCAE:E12589 NCIt:C79539 OAE:0002082 a stomach pain AE that is observed in lower stomach RR WEB: http://www.mayoclinic.org/symptoms/abdominal-pain/basics/definition/sym-20050728 10000084 abdominal pain lower AE OAE:0002083 an eye AE with an outcome of an abnormal sensation in the eye RR 10000173 abnormal sensation in eye AE OAE:0002084 a behavior and neurological AE which has an outcome of impaired driving ability RR 10049564 impaired driving ability AE OAE:0002085 a respiratory system AE that has an outcome of increased bronchial secretion, or an increase in the substance produced in the bronchial tree, which includes mucus, protein salts, plasma fluid, and proteins RR WEB: http://medical-dictionary.thefreedictionary.com/bronchial+secretion 10062530 increased bronchial secretion AE OAE:0002086 an injection-site AE that displays injection site streaking, a red pattern on the skin localized to the injection site RR WEB: http://www.bannerhealth.com/incfiles/housecalls/peds/FeverInfectionsCrying/ImmunizationReactions.htm 10066778 injection site streaking AE OAE:0002087 an injection-site AE that displays injection site streaking, which are small, fluid-filled blisters localized to the injection site RR WEB: http://www.nlm.nih.gov/medlineplus/ency/article/003939.htm 10022111 injection site vesicles AE OAE:0002088 a lab test abnormal AE that has an outcome of an increased international normalized ratio, indicating an individual is more prone to bleeding RR, MW, YH INR increased AE WEB: http://circ.ahajournals.org/content/126/5/e52.full 10022402 10022595 international normalized ratio increased AE CTCAE: E12175 NCIt: C78366 OAE:0002089 a sleep disorder AE with the outcome of irregular sleep phase, which is an abnormality in the timing of sleep RR WEB: http://www.mayoclinic.org/diseases-conditions/delayed-sleep-phase/basics/definition/con-20035242 10022995 irregular sleep phase AE OAE:0002090 an injection-site AE that displays injection site anesthesia, or numbness at the injection site RR 10022047 injection site anesthesia AE OAE:0002091 an infection AE that occurs at an injection-site RR WEB: http://www.merriam-webster.com/dictionary/infection 10022076 injection site infection AE OAE:0002092 a behavior and neurological AE which has an outcome of decreased grip strength, or a reduction in the force applied by the hand to pull on or suspend from objects RR WEB: http://www.krepublishers.com/02-Journals/JLS/JLS-01-0-000-09-Web/JLS-01-1-000-09-Abst-PDF/JLS-01-01-057-09-020-Koley-S/JLS-01-01-057-09-020-Koley-S-Tt.pdf 10062556 grip strength decreased AE OAE:0002093 an eye AE with the outcome of eyelid margin crusting RR 10052132 eyelid margin crusting AE OAE:0002094 an ear AE with the outcome of ear discomfort, an uncomfortable or painful feeling in the ear RR WEB: http://www.merriam-webster.com/dictionary/discomfort 10052137 ear discomfort AE OAE:0002095 an abnormal defecation AE that has an outcome of fecal incontinence, the accidental passing of solid or liquid stool or mucus from the rectum RR, MW, YH faecal incontinence AE WEB: http://digestive.niddk.nih.gov/ddiseases/pubs/fecalincontinence/#what 10016092 10016296 fecal incontinence AE CTCAE: E10693 NCIt: C78498 OAE:0002096 a behavior and neurological AE that has an outcome of fear, which is to be afraid and/or worried RR WEB: http://www.merriam-webster.com/dictionary/fear 10016275 fear AE OAE:0002097 a pain AE that has an outcome of pain in gums RR WEB: http://www.merriam-webster.com/dictionary/gingival 10018286 gingival pain AE CTCAE: E10763 NCIt: C78325 OAE:0002098 a tongue disorder with the outcome of glossitis, a condition in which the tongue is swollen and changes color, which may make the tongue appear smooth RR WEB: http://www.nlm.nih.gov/medlineplus/ency/article/001053.htm 10018386 glossitis AE OAE:0002099 an injury AE which has an outcome of muscle injury RR 10028314 muscle injury AE OAE:0002100 a sensory capability AE that has an outcome of sensory disturbance RR 10040026 sensory disturbance AE OAE:0002101 an edema AE with an outcome of tracheal edema, which is the swelling of the airway between the throat and the lungs RR WEB: http://firstaidcalgary.ca/causes-of-tracheal-edema/ 10044296 tracheal edema AE OAE:0002102 Allergic eruption AE is a skin AE that is most drug-induced cutaneous reactions, especially found in younger adults. Sometimes also be diagnosed with eczema. This term appears to be a synonym to the 'eczema AE'. JX, LW, YH 过敏性皮疹 allergic eruption AE OAE:0002103 Erythrodermia AE is a skin AE that is an inflammatory skin disease with erythema and scaling that affects nearly the entire cutaneous surface. JX, LW, YH dermatitis exfoliativa AE exfoliative dermatitis AE red man syndrome AE WEB: http://en.wikipedia.org/wiki/Erythroderma 红皮病 10037165 erythrodermia AE OAE:0002104 Mycotic dermatitis is a dermatitis AE that is a inflammation of skin which induced by mycetes. JX, LW, YH 真菌性皮炎 mycotic dermatitis AE OAE:0002105 Peritendinitis symptom AE is an inflammation AE that has an outcome of inflammation of the synovial lining of a tendon sheath. Causes include trauma, tendon stress, bacterial disease (gonorrhea, tuberculosis), rheumatic disease, and gout. Common sites are the hand, wrist, shoulder capsule, hip capsule, hamstring muscles, and Achilles tendon. The tendon sheaths become inflamed and painful, and accumulate fluid. Joint mobility is usually reduced. JX, LW, YH 腱鞘炎样症状 peritendinitis symptom AE OAE:0002106 Orthostatic hypotension AE is a hypotension AE that is a form of hypotension in which a person's blood pressure falls when suddenly standing up or stretching. In medical terms, it is defined as a fall in systolic blood pressure of at least 20 mm Hg or diastolic blood pressure of at least 10 mm Hg when a person assumes a standing position. JX, LW, YH orthostasis AE postural hypotension AE WEB: http://en.wikipedia.org/wiki/Orthostatic_hypotension 直立性低血压 10031127 orthostatic hypotension AE OAE:0002107 JX, LW, YH chromatopsia AE WEB: http://ghr.nlm.nih.gov/condition/color-vision-deficiency 色视力缺乏 Color vision deficiency AE is an abnormal vision AE that is a group of conditions that affect the perception of color. They cause a range of changes in color vision, from mild difficulty with distinguishing shades to a total inability to detect color. These conditions are divided into three major categories: red-green color vision defects, blue-yellow color vision defects, and a complete absence of color vision. color vision deficiency AE OAE:0002108 Carcinogenesis AE is a tumor AE that is literally the 'creation' of cancer. It is a process by which normal cells are transformed into cancer cells. JX, LW, YH oncogenesis AE tumorigenesis AE WEB: http://en.wikipedia.org/wiki/Carcinogenesis 致癌 carcinogenesis AE OAE:0002109 a circulatory AE that is a serious allergic reaction associated with systemic vasodilation that causes low blood pressure which is by definition 30% lower than the person's baseline or below standard values. JX, LW, YH, RR WEB: http://en.wikipedia.org/wiki/Anaphylaxis WEB: http://smschile.cl/documentos/cursos2010/MedicalClinicsNorthAmerica/Acute%20Symptoms%20of%20Drug%20Hypersensitivity%20%28Urticaria,%20Angioedema,%20Anaphylaxis,%20Anaphylactic%20Shock%29.pdf WEB: http://www.medicinenet.com/script/main/art.asp?articlekey=10092 过敏性休克 10002199 anaphylactic shock AE OAE:0002110 Pituitary adenomas AE is a tumor AE that is a tumor which occur in the pituitary gland. Pituitary adenomas are generally divided into three categories dependent upon their biological functioning: benign adenoma, invasive adenoma, and carcinomas, with carcinomas accounting for 0.1% to 0.2%, approximately 35% being invasive adenomas and most being benign adenomas. Pituitary adenomas represent from 10% to 25% of all intracranial neoplasms and the estimated prevalence rate in the general population is approximately 17%. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Pituitary_adenoma pituitary adenomas AE OAE:0002111 Fatty infiltration AE is an embolism AE that shows the abnormal accumulation of fat droplets in the cytoplasm of cells. JX, LW, YH WEB: http://dictionary.reference.com/browse/fatty+infiltration 脂肪侵润 fatty infiltration AE OAE:0002112 Epigastric discomfort is a discomfort AE that shows discomfort in the upper central region of the abdomen. JX, LW, YH upper Abdominal discomfort AE WEB: http://www.rightdiagnosis.com/sym/epigastric_discomfort.htm 上腹部不适 10053155 epigastric discomfort AE OAE:0002113 Acute intravascular hemolysis AE is a cardiovascular AE that has an outcome of disruption of red blood cells occurs while they are within blood vessels. JX, LW, YH 急性血管内溶血 acute intravascular hemolysis AE OAE:0002114 Allergic hepatitis AE is a hepatitis AE that is a tissue-specific inflammatory diease caused by hepersensitivity to a particular drug, accomopanied by a systemic allergic reaction such as eosinophilia. JX, LW, YH WEB: http://medical-dictionary.thefreedictionary.com/viral+hepatitis 过敏性肝炎 10071198 allergic hepatitis AE OAE:0002115 Paranoid anxiety AE is a anxiety AE that is a term used in object relations theory, particularity in discussions about the Paranoid-schizoid and depressive positions. The term was frequently used by Melanie Klein, especially to refer to a pre-depressive and persecutory sense of anxiety characterised by the psychological splitting of objects. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Paranoid_anxiety 偏执性焦虑 paranoid anxietas AE OAE:0002116 Thrombotic thrombocytopenic purpura AE is a thrombocytopenic purpura AE that is a rare disorder of the blood-coagulation system, causing extensive microscopic clots to form in the small blood vessels throughout the body. JX, LW, YH moschcowitz syndrome AE WEB: http://en.wikipedia.org/wiki/Thrombotic_thrombocytopenic_purpura 血栓性血小板减少性紫癜 10043648 thrombotic thrombocytopenic purpura AE CTCAE: E10061 NCIt: C78797 OAE:0002117 Glaucoma AE is an eye AE that is a term describing a group of ocular (eye) disorders resulting in optic nerve damage or loss to the field of vision, in many patients caused by a clinically characterized pressure buildup in regards to the fluid of the eye (intraocular pressure-associated optic neuropathy). JX, LW, YH WEB: http://en.wikipedia.org/wiki/Glaucoma 青光眼 10018304 glaucoma AE CTCAE: E10392 NCIt: C26782 OAE:0002118 an allergy AE that shows a serious allergic reaction that is rapid in onset and may cause death. It typically causes a number of symptoms including an itchy rash, throat swelling, and low blood pressure. Common causes include insect bites and stings, foods, and medications. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Anaphylaxis 过敏症 10002218 anaphylaxis AE CTCAE: E11254 NCIt: C50460 OAE:0002119 an allergy AE which occur during certain times of the year, usually when outdoor molds release their spores, and trees, grasses, and weeds release tiny pollen particles into the air to fertilize other plants. JX, LW, YH WEB: http://kidshealth.org/parent/medical/allergies/seasonal_allergies.html 季节性变态反应 10048908 seasonal allergy AE OAE:0002120 a blood sodium abnormal AE with an abnormally decreased sodium concentration in the blood YH, MW hyponatraemia AE WEB: http://www.mayoclinic.org/diseases-conditions/hyponatremia/basics/definition/con-20031445 10021036 10021038 hyponatremia AE CTCAE: E12339 NCIt: C37976 OAE:0002121 Skin redness AE is an erythema AE that is abnormal redness of the skin, often signaling a pathological condition, such as inflammation, infection, or sunburn. JX, LW, YH WEB: http://www.healthline.com/health/skin-redness 皮肤发红 skin redness AE OAE:0002122 a chest pain that is caused when your heart muscle doesn't get enough oxygen-rich blood. DJ, SS, YH chest pain - cardiac AE tight chest AE WEB: http://www.ncbi.nlm.nih.gov/pubmed/23016723 10002383 10008481 angina AE CTCAE: E10110 HPO: HP_0001681 NCIt: C51221 SIDER: C0002962 OAE:0002123 an angina AE that is aggravating. JX, YH aggravating angina AE OAE:0002124 an aggravating angina AE that is caused by severe hypotension JX, YH 严重低血压导致心绞痛症状加重现象 severe hypotension caused angina symptom aggravating AE OAE:0002125 an eye AE that shows abnormal involuntary blinking of the eyelids JX, LW, YH corneal reflex abnormal AE URL: https://en.wikipedia.org/wiki/Corneal_reflex 睑闭反射反常 10058960 blink reflex abnormal AE OAE:0002126 Dazzling AE is a eye disorder AE that has an outcome of the consequence of illumination too intense for adaptation by the eye. In contrast to glare, dazzling is alleviated by appropriate tinted glasses. JX, LW, YH WEB: http://medical-dictionary.thefreedictionary.com/dazzling 目眩 dazzling AE OAE:0002127 Ventricular rhythm AE is an arrhythmia AE that shows the electrocardiographic finding of an ectopic ventricular rhythm with three or more consecutive ventricular premature beats with a rate less than 100 beats per minute. JX, LW, YH 室性心律 10047297 ventricular rhythm AE OAE:0002128 Extrapyramidal signs AE is a nervous system AE that shows defects in basal ganglia function. It characterized by changes in muscle tone, poverty of voluntary movements (akinesia), or abnormal involuntary movements (dyskinesia). JX, LW, YH 锥体外体征 extrapyramidal signs AE OAE:0002129 Hearing disorder AE is an ear disorder that shows impairment of the sense of hearing. JX, LW, YH 听觉障碍 10019243 hearing disorder AE OAE:0002130 Yellow urine AE is a urine abnormality AE that may be due to excretion of picric acid, dinitrophenol, phenacetin or chrysarobin or in alkaline pH, to increased secretion of anthocyanin, or associated with ingestion of beets or blackberries. Pure yellow urine is associated with increased acriflavine and has a green fluorescence; yellow-orange urine may be highly concentrated or contain increased bilirubin and biliverdin. JX, LW, YH 尿液呈黄色 yellow urine AE OAE:0002131 Epidermal necrosis AE is a necrosis AE that shows widespread keratinocyte cell death via apoptosis results in the tissue damage. JX, LW, YH 表皮坏死 10059284 epidermal necrosis AE OAE:0002132 Arthromeningitis AE is an inflammation AE that shows inflammation of a synovial membrane, usually painful, particularly on motion, and characterized by fluctuating swelling, due to effusion in a synovial sac. JX, LW, YH 滑膜炎 arthromeningitis AE OAE:0002133 Pulmonary tuberculosis AE is a lung disorder AE that is a contagious bacterial infection that involves the lungs. It may spread to other organs. JX, LW, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/000077.htm 10037440 pulmonary tuberculosis AE OAE:0002134 Coronary heart disease AE is a cardiovascular disorder AE that is a disease in which a waxy substance called plaque (plak) builds up inside the coronary arteries. These arteries supply oxygen-rich blood to your heart muscle. JX, LW, YH WEB: http://www.nhlbi.nih.gov/health/health-topics/topics/cad/ 冠心病 10068617 coronary heart disease AE OAE:0002135 Increased defecation frequency AE is a abnormal stool AE that shows defecation number increased. JX, LW, YH 大便次数增加 increased defecation frequency AE OAE:0002136 Symptomatic hypotension AE is a hypotension AE that shows blood pressure that less than 90/60 mm Hg with dizziness, vertigo etc. JX, LW, YH 症状性低血压 symptomatic hypotension AE OAE:0002137 Non-specific gastrointestinal dysfunction AE is a gastrointestinal disorder AE that shows non-specific gastrointestinal dysfunction. JX, LW, YH 非特异性胃肠功能紊乱 non-specific gastrointestinal dysfunction AE OAE:0002138 Abnormal sclerotin AE is a bone disorder AE that shows abnormal sclerotin. JX, LW, YH 骨质异常 abnormal sclerotin AE OAE:0002139 Fast and weak heart beat AE is a cardiac disorder AE that shows fast and weak heart beat. JX, LW, YH 心跳快而弱 fast and weak heart beat AE OAE:0002140 Pain over the liver AE is a pain AE that shows pain over the liver. JX, LW, YH 肝区痛 pain over the liver AE OAE:0002141 Increased biliary calculus AE is a liver, biliary, and pancreatic AE that shows increased biliary calculus. JX, LW, YH 胆石增加 increased biliary calculus AE OAE:0002142 Muscle function disorder AE is a muscle AE that shows muscle function disorder. JX, LW, YH 肌肉功能失调 muscle function disorder AE OAE:0002143 Accidental injury AE is a fall AE that shows accidental falls. JX, LW, YH 意外跌倒 accidental fall AE OAE:0002144 Accidental injury AE is an injury AE that shows accidedntal injury. JX, LW, YH 意外损伤 10000380 accidental injury AE OAE:0002145 Abnormal ejaculation AE is a male reproductive system AE that shows abnormal ejaculation. JX, LW, YH 异常射精 10000128 abnormal ejaculation AE OAE:0002146 Distention of head AE is a cardiovascular AE that shows distention of head. JX, LW, YH 头胀 distention of head AE OAE:0002147 Water-sodium retention AE is an abnormal fluid regulation AE that shows water-sodium retention. JX, LW, YH WEB: http://www.livestrong.com/article/485782-sodium-retention-weight-gain/ 水钠潴留 water-sodium retention AE OAE:0002148 Dizziness when standing up AE is a dizziness AE that shows dizziness when standing up. JX, LW, YH 站起时头晕 dizziness when standing up AE OAE:0002149 Change of gustation AE is a gustatory system AE that shows the change of gustation. JX, LW, YH 味觉改变 change of gustation AE OAE:0002150 Vascular stimulation of pain AE is a pain AE that shows pain which due to vascular stimulation. JX, LW, YH 血管刺激性疼痛 vascular stimulation of pain AE OAE:0002151 Vascular pain AE is a pain AE that shows vascular pain. JX, LW, YH 血管疼痛 vascular pain AE OAE:0002152 Heaviness sense of arm AE is a sensation of heaviness AE that shows a sensation feeling of heaviness in the arm. JX, LW, YH 手臂沉重感 heaviness sense of arm AE OAE:0002153 Breast swelling AE is an edema AE that is common for almost all women in the second half of their menstrual cycle. It in the premenstrual portion of the cycle can be mild to severe. JX, LW, YH WEB: http://www.healthgrades.com/symptoms/breast-swelling 乳房肿胀 10006312 breast swelling AE OAE:0002154 Gastrointestinal cramp AE is a muscle spasm AE that shows abnormal contractions of the gastrointestinal muscles. JX, LW, YH 肠胃痉挛 10049136 gastrointestinal cramp AE OAE:0002155 Heart discomfort AE is a discomfort AE that shows an uncomfortable feeling in the heart. JX, LW, YH 心脏不适 heart discomfort AE OAE:0002156 Angiectopia of skin AE a vascular disorder AE that shows abnormal position or course of a vessel in the skin. JX, LW, YH 皮肤血管异位 angiectopia of skin AE OAE:0002157 Joint discomfort AE is a discomfort AE that shows an uncomfortable feeling in the joint. JX, LW, YH 关节不适 joint discomfort AE OAE:0002158 Eye discomfort AE is a discomfort AE that shows an uncomfortable feeling in the eye. JX, LW, YH 眼部不适 eye discomfort AE OAE:0002159 Instability of gait AE is a abnormal gait AE that shows instability of gait. JX, LW, YH 步态不稳 instability of gait AE OAE:0002160 Pemphigoid injury AE is an injury AE that shows a skin disorder where one has large blisters on the skin. JX, LW, YH 类天疱疮样损伤 pemphigoid injury AE OAE:0002161 Pulse frequency change AE is a cardiovascular AE that shows dpulse frequency change. JX, LW, YH pulse abnormal AE 脉搏频率变化 pulse frequency change AE OAE:0002162 Inhibition of myocardial contraction force AE is a cardiac disorder AE that shows inhibition of myocardial contraction force. JX, LW, YH 抑制心肌收缩力 inhibition of myocardial contraction force AE OAE:0002163 Decreased of atrial conduction velocity AE is a conduction system disorder AE that shows decreased of atrial conduction velocity. JX, LW, YH 心房传导速度减慢 decreased of atrial conduction velocity AE OAE:0002164 Spasm of lower limbs AE is a muscle spasm AE that shows tightening and spasms of the muscles in the legs. JX, LW, YH 下肢痉挛 spasm of lower limbs AE OAE:0002165 Electrocardiogram prolonged PR interval AE is an electrocardiogram result abnormal AE that shows a prolonged time between the onset of atrial depolarization (P wave) to the beginning of ventricular depolarization (QRS complex). JX, LW, YH 心电图出现PR间期延长 electrocardiogram prolonged PR interval AE OAE:0002166 Qrs wave broadening AE is a electrocardiogram qrs complex abnormal AE that shows broadening qrs complex in the electrocardiogram. JX, LW, YH QRS波增宽 qrs wave broadening AE OAE:0002167 Edema of lower limbs AE is an edema AE that shows enlargement of the leg, due to the accumulation of fluids. JX, LW, YH 下肢浮肿 edema of lower limbs AE OAE:0002168 Accelerated pulse AE is a cardiovascular AE that shows increased of the number of pulsations per minute palpable in an artery. JX, LW, YH 脉搏加快 accelerated pulse AE OAE:0002169 Bitter taste of mouth AE is a digestive system AE that is not from a bitter substance is a distorted sense of taste. A persistent bad taste in the mouth, whether bitter, metallic or foul, is called dysgeusia. JX, LW, YH WEB: http://www.healthgrades.com/symptoms/bitter-taste-in-mouth 口苦 bitter taste of mouth AE OAE:0002170 Skin irritant reaction AE is a skin AE that shows rash, inflammation, swelling, scaling, or abnormal tissue which growth in the affected area. JX, LW, YH 皮肤刺激反应 skin irritant reaction AE OAE:0002171 Vitreous suspended substance AE is an eye AE shows vitreous suspended substance in the eyes. JX, LW, YH 玻璃体悬浮物 vitreous suspended substance AE OAE:0002172 Dreaminess AE is a sleep disorder AE that shows dreaminess in the sleeping. JX, LW, YH 多梦 dreaminess AE OAE:0002173 Abdominal spasm AE is a muscle spasm AE that is typically a feeling of cramping in the abdomen caused by a rigid expansion of muscles. It can vary from mild discomfort to moderate or severe pain. JX, LW, YH WEB: http://www.wisegeekhealth.com/what-are-abdominal-spasms.htm 腹部痉挛 10051889 abdominal spasm AE OAE:0002174 Coronary contraction AE is a coronary artery disorder AE that shows coronary contraction. JX, LW, YH 冠状动脉收缩 coronary contraction AE OAE:0002175 Lower extremity edema caused by blood vessels AE is an edema AE that shows excess fluid accumalated in the leg dut to blood vessels. JX, LW, YH 因血管扩张引起的下肢水肿 lower extremity edema caused by blood vessels AE OAE:0002176 Asthenia of lower limbs AE is a asthenia AE that occurs in the lower limbs. It is a condition typified by a weakness of voluntary movement. JX, LW, YH 下肢无力 asthenia of lower limbs AE OAE:0002177 Small bronchial lumen occlusion AE is a lung disorder AE that shows small bronchial lumen occlusion. JX, LW, YH 小支气管腔闭塞 small bronchial lumen occlusion AE OAE:0002178 Prolonged orthostatic hypotension AE is a orthostatic hypotension AE that shows prolonged orthostatic hypotension. JX, LW, YH 延长体位性低血压时间 prolonged orthostatic hypotension AE OAE:0002179 an allergy AE that shows produce cross or incomplete cross allergic reaction to similar medicinal chemistry structure. JX, LW, YH 交叉过敏反应 cross allergic reaction AE OAE:0002180 Deep venous thrombophlebitis AE is a thrombophlebitis AE that is causes by a blood clot blocking in the deep vein. JX, LW, YH 深静脉血栓静脉炎 deep venous thrombophlebitis AE OAE:0002181 Change of hematology AE is a hematology investigation result abnormal AE that shows the change of hematology. JX, LW, YH 血液学改变 change of hematology AE OAE:0002182 Cardiac depression AE is a cardiac disorder AE that shows cardiac depression. JX, LW, YH 抑制心脏 cardiac depression AE OAE:0002183 Side limb numbness AE is a numbness AE that shows reduced or loss of sensation on the skin of an arm and leg on the same side of the body. JX, LW, YH 侧肢的麻木感 side limb numbness AE OAE:0002184 Numbness of tongue AE is a numbness AE that shows abnormal feeling or loss of sensation in the tongue. JX, LW, YH 舌部麻木 numbness of tongue AE OAE:0002185 Numbness of the limbs AE is a numbness AE that shows reduced or loss of sensation on the skin of the arm and leg. JX, LW, YH 肢体麻木 numbness of the limbs AE OAE:0002186 Lip numbness AE is a numbness AE that shows abnormal feeling in the lips, including numbness and tingling. JX, LW, YH 嘴唇发麻 lip numbness AE OAE:0002187 Reflex Increased pulse rate AE is a cardiovascular AE that shows increased pulse rate. JX, LW, YH 反射性脉率增加 reflex Increased pulse rate AE OAE:0002188 Irritation of the digestive tract AE is a digestive system AE that shows irritation of the digestive tract. JX, LW, YH 消化道刺激 irritation of the digestive tract AE OAE:0002189 Unconscious chorea AE is a chorea AE that is characterized by brief, non-repetitive irregular muscle contractions. JX, LW, YH 不自觉舞蹈症 unconscious chorea AE OAE:0002190 Phlebectasia of limbs AE is a vasodilatation AE that shows dilation of the veins in the extremity. JX, LW, YH 肢端静脉扩张 phlebectasia of limbs AE OAE:0002191 Heart beat skip AE is a irregular heartbeat AE which is sometimes called as either heart palpitation, or premature atrial or ventricular contraction are very common occurrences. They may or may not be accompanied by heart conditions or heart problems. JX, LW, YH WEB: http://ehealthwall.com/heart-skips-a-beat-causes-symptoms-treatment/ 漏跳 heart beat skip AE OAE:0002192 Fatal liver cell necrosis AE is a hepatic necrosis AE that has an outcome of fatal liver cell necrosis. JX, LW, YH 致命性肝细胞坏死 fatal liver cell necrosis AE OAE:0002193 Warm and hot feeling in the neck AE is a skini warm AE that shows warm and hot feeling in the neck. JX, LW, YH 颈感觉温热 warm and hot feeling in the neck AE OAE:0002194 Facial warm feeling AE is a skin warm AE that shows a warm feeling in the face. JX, LW, YH 面部感觉温热 facial warm feeling AE OAE:0002195 Increased peripheral vascular resistance AE is a vascular disorder AE that shows increased peripheral vascular resistance, the degree to which the blood vessels impede the flow of blood. High resistance causes an increase in blood pressure, which increases the workload of the heart. JX, LW, YH 外周血管阻力升高 increased peripheral vascular resistance AE OAE:0002196 Venous ischemia AE is an ischaemia AE that shows in insufficient blood supply in the vein. JX, LW, YH 静脉供血不足 venous ischemia AE OAE:0002197 Increased blood creatine AE is a metabolic and nutritional investigation result abnormal AE that shows an increased creatine level in blood. JX, LW, YH 血肌酸增加 increased blood creatine AE OAE:0002198 Increased nonprotein nitrogen AE is an investigation result abnormal AE that shows increased nonprotein nitrogen, the nitrogenous constituents of the blood exclusive of the protein bodies, consisting of the nitrogen of urea, uric acid, creatine, creatinine, amino acids, polypeptides, and an undetermined part known as rest nitrogen. JX, LW, YH 非蛋白氮增加 increased nonprotein nitrogen AE OAE:0002199 Soft feces AE is a abnormal stool AE that shows soft and shapeless of the feces. JX, LW, YH 软便 soft feces AE OAE:0002200 Increased hepatic function AE is a hepatic function abnormal AE that shows the values of liver function tests (LFTs) high than the normal. JX, LW, YH WEB: http://www.webmd.com/a-to-z-guides/liver-function-test-lft 肝功能升高 increased hepatic function AE OAE:0002201 Knee pain AE is a pain AE that shows discomfort in the structures of both knees. Keen pain may be due to injury, inflammation or infection. JX, LW, YH WEB: http://www.mayoclinic.org/diseases-conditions/knee-pain/basics/definition/CON-20029534 膝痛 10023477 knee pain AE OAE:0002202 Loss of libido AE is a libido disorder AE that shows loss of the desire for sexual interaction. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Hypoactive_sexual_desire_disorder 性欲丧失 10024870 loss of libido AE OAE:0002203 Over sedation AE is a behavior and neurological AE that shows the over reduction of irritability or agitation. JX, LW, YH 过度镇静 over sedation AE OAE:0002204 Finger tremor AE is a tremor AE that shows involuntary muscle contraction and relaxation in the finger. JX, LW, YH 手指强硬颤动 finger tremor AE OAE:0002205 Leg cramp AE is a muscle cramp AE that shows tightening, or spasms, of the muscles in the legs. JX, LW, YH 腿部痉挛 leg cramp AE OAE:0002206 a sleep disorder AE in which there is an inability to fall asleep or to stay asleep as long as desired. YH, MW WEB: https://en.wikipedia.org/wiki/Insomnia 10022437 Insomnia is a symptom of a sleeping disorder characterized by persistent difficulty falling asleep or staying asleep despite the opportunity. Insomnia is a symptom, not a stand-alone diagnosis or a disease. insomnia AE CTCAE: E12925 HPO: HP_0002360 SIDER: C0917801 OAE:0002207 Terminal insomnia AE is a insomnia AE that is a medical condition affecting sleep patterns. Typically, people who suffer from terminal insomnia wake up after only four to five hours of sleep. For those afflicted, getting back to sleep can be difficult, resulting in fatigue, irritability, and lack of concentration. JX, LW, YH matutinal insomnia AE WEB: http://www.wisegeek.com/what-is-terminal-insomnia.htm 早醒 10068932 terminal insomnia AE OAE:0002208 Bone marrow granuloma AE is a bone marrow disorder AE that shows an organized collection of macrophages in the bone marrow. JX, LW, YH 骨髓肉芽肿 10066816 bone marrow granuloma AE OAE:0002209 Cholestatic liver injury AE is a liver damage AE that shows buildup of bile acids in hepatocytes, then causes hepatocellular injury. JX, LW ,YH 胆汁郁积性肝损伤 10067969 cholestatic liver injury AE OAE:0002210 Distant heart sounds AE is a cardiac disorder AE that shows distant heart sounds. JX, LW, YH 心音遥远 distant heart sounds AE OAE:0002211 Pink skin AE is a skin AE that shows pink skin. JX, LW, YH 皮肤粉红 pink skin AE OAE:0002212 Acute laryngeal edema AE is an edema AE that shows acute laryngeal edema, abnormal accumulation of fluid in tissues of any part of the larynx, commonly associated with laryngeal injuries and allergic reactions. JX, LW, YH 急性喉头水肿 10066705 acute laryngeal edema AE OAE:0002213 Hypoplastic bone marrow AE is a bone marrow disorder AE that shows insufficient blood stem cells in the marrow. JX, LW, YH 骨髓发育不全 hypoplastic bone marrow AE OAE:0002214 Bleeding and coagulation disorders AE is a hematopoietic system AE that shows bleeding and coagulation disorders. JX, LW, YH 出凝血功能障碍 bleeding and coagulation disorders AE OAE:0002215 Polymorphic ventricular tachycardia AE is a ventricular tachycardia AE that is an abnormally fast heart rhythm starting in the ventricles, the lower chambers of the heart. JX, LW, YH WEB: http://www.healthguideinfo.com/arrhythmias-heart-palpitations/p110132/ 多行性室性心动过速 10036095 polymorphic ventricular tachycardia AE OAE:0002216 Monomorphic ventricular tachycardia AE is a ventricular tachycardia AE that is a type of tachycardia which has a uniform beat-to-beat QRS morphology. JX, LW, YH 单行性室性心动过速 10058185 monomorphic ventricular tachycardia AE OAE:0002217 Respiratory tract symptoms AE is a respiratory system AE that is a series of discomforts which occurs in respiratory tract. JX, LW, YH 呼吸道症状 respiratory tract symptoms AE OAE:0002218 Clammy skin AE is a skin AE that occurs when the skin turns cooler than normal and is moist, despite a cooler surface temperature. Clammy skin is often pale. JX, LW, YH WEB: http://www.healthgrades.com/symptoms/clammy-skin 皮肤湿冷 clammy skin AE OAE:0002219 Abnormal visual accommodation AE is an abnormal vision AE that shows abnormal visual accommodation. Accommodation is the process by which the vertebrate eye changes optical power to maintain a clear image or focus on an object as its distance varies. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Accommodation_%28eye%29 视调节异常 abnormal visual accommodation AE OAE:0002220 an allergy AE that shows swelling and irritation of the skin, caused by an allergy to a substance in the environment. JX, LW, YH 皮肤过敏 skin allergy AE OAE:0002221 Heaviness of the head AE is a sensation of heaviness AE that shows a sensation feeling of heaviness in the head. JX, LW, YH 头重感 10049121 heaviness of the head AE OAE:0002222 Rheumatoid factor positive AE is an immunology and allergy investigation result abnormal AE that shows positive of the rheumatoid factor. Rheumatoid factor is a blood test that measures the amount of the RF antibody in the blood. JX, LW, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/003548.htm 类风湿因子阳性 10039080 rheumatoid factor positive AE OAE:0002223 Retinal detachment AE is an eye AE that is a separation of the retina from its attachments to the underlying tissue within the eye. JX, LW, YH WEB: http://www.medicinenet.com/retinal_detachment/article.htm 视网膜脱离 10038848 retinal detachment AE CTCAE: E10420 NCIT: C26874 NCIt: C26874 OAE:0002224 Arm pain AE is a pain AE that shows discomfort in the structures of the arm. It can be caused by a wide variety of problems, ranging from joint injuries to compressed nerves. JX, LW, YH WEB: http://www.mayoclinic.org/symptoms/arm-pain/basics/definition/SYM-20050870 手臂疼痛 arm pain AE OAE:0002225 Peripheric paresthesia AE is a paresthesia AE that shows paresthesia in the peripheric area. JX, LW, YH 外周感觉异常 peripheric paresthesia AE OAE:0002226 Edema of glottis AE is an edema AE that is a swelling caused by fluid accumulation in the soft tissues of the larynx. The condition, usually inflammatory, may result from an infection, injury, allergy, or inhalation of toxic substances. JX, LW, YH 声门肿胀 edema of glottis AE OAE:0002227 Prolonged qrs complex AE is a electrocardiogram qrs complex abnormal AE that shows qrs complex prolonged. The QRS complex is a name for the combination of three of the graphical deflections seen on a typical electrocardiogram. JX, LW, YH QRS时间延长 prolonged qrs complex AE OAE:0002228 Prolonged bleeding time AE is a hematology investigation result abnormal AE that shows prolonged time for small blood vessels in the skin close to stop from bleeding. JX, LW, YH 出血时间延长 prolonged bleeding time AE OAE:0002229 Acute generalized exanthematous pustulosis AE is a skin AE that is a not uncommon cutaneous reaction pattern that in 90% of cases is related to medication administration, characterized by a sudden eruption that appears on average five days after the medication is started. JX, LW, YH pustular drug eruption AE toxic pustuloderma AE WEB: http://en.wikipedia.org/wiki/Acute_generalized_exanthematous_pustulosis 急性全身性浓疱病 10062372 acute generalized exanthematous pustulosis AE OAE:0002230 Upper and lower limbs flare AE is an edema AE that shows edema in the upper and lower limbs, which is an accumulation of an excessive amount of watery fluid in cells or intercellular tissues. JX, LW, YH 上下肢红肿 upper and lower limbs flare AE OAE:0002231 Abnormal blood sugar with empty stomach AE is a blood glucose level abnormal AE that shows abnormal blood glucose level with empty stomach. JX, LW, YH 空腹时血糖异常 abnormal blood sugar with empty stomach AE OAE:0002232 Increased blood sugar with empty stomach AE is blood glucose level decreased AE that shows an increased glucose level in blood with empty stomach. JX, LW, YH 空腹时血糖升高 increased blood sugar with empty stomach AE OAE:0002233 Hydrochloric acid in gastric juice secretion increased AE is a gastric disorder AE that shows increased gastric acid. JX, LW, YH 胃酸分泌增多 hydrochloric acid in gastric juice secretion increased AE OAE:0002234 Torsades de pointes AE is a ventricular tachycardia AE that is a polymorphic ventricular tachycardia that exhibits distinct characteristics on the electrocardiogram. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Torsades_de_pointes 扭转性室速 10044067 torsades de pointes AE OAE:0002235 Proximal myasthenia AE is a myasthenia AE that shows proximal myasthenia. Myasthenia represents myasthenia gravis, a neuromuscular disease leading to fluctuating muscle weakness and fatigability. JX, LW, YH 近端肌无力 proximal myasthenia AE OAE:0002236 Dilated skin vessels AE is a vasodilatation AE that shows vasodilatation in the skin, which refers to the widening of blood vessels resulting from relaxation of smooth muscle cells within the vessel walls, particularly in the large arteries, smaller arterioles and large veins. JX, LW, YH 皮肤血管扩张 dilated skin vessels AE OAE:0002237 Numbness of oral mucosa AE is a numbness AE that shows an abnormal feeling or loss of sensation in the oral mucosa. JX, LW, YH 口腔黏膜发麻 numbness of oral mucosa AE OAE:0002238 Orthostatic dizziness AE is a dizziness AE that shows dizziness provocation by sudden postural change. JX, LW, YH 体位性头晕 10031125 orthostatic dizziness AE OAE:0002239 Acid reflux AE is a digestive system AE that shows the acid and pepsin secreted in the stomach back up in to the esophagus. JX, LW, YH 反酸 10066872 acid reflux AE OAE:0002240 Jugular phlebectasia AE is a vasodilatation AE that is an isolated saccular or fusiform dilation of a vein without tortuosity. JX, LW, YH WEB: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3708235/ 颈静脉扩张 jugular phlebectasia AE OAE:0002241 Laryngeal edema AE is an edema AE that shows abnormal accumulation of fluid in tissues of any part of the larynx, commonly associated with laryngeal injuries and allergic reactions. JX, LW, YH, MW laryngeal oedema AE 喉肿胀 10023838 laryngeal edema AE CTCAE:E13393 NCIt:C79607 OAE:0002242 Flatus AE is a digestive system AE that shows gas or air expelled through the anus. JX, LW, YH 排气 10016769 flatus AE OAE:0002243 Continuous polymorphic ventricular tachycardia AE is a polymorphic ventricular tachycardia AE that shows polymorphic ventricular tachycardia is constantly. JX, LW, YH 连续性多形性室性心动过速 continuous polymorphic ventricular tachycardia AE OAE:0002244 Continuous polymorphic ventricular tachycardia AE is a polymorphic ventricular tachycardia AE that shows polymorphic ventricular tachycardia is intermittent. JX, LW, YH 间歇性多形性室性心动过速 intermittent polymorphic ventricular tachycardia AE OAE:0002245 Aggravated ulcer AE is a ulcer AE that shows aggravated ulcer. JX, LW, YH 溃疡加重 aggravated ulcer AE OAE:0002246 Heart failure increased AE is a cardiovascular disorder AE that shows aggravated heart failure. JX, LW, YH 心脏衰竭加重 heart failure increased AE OAE:0002247 Aggravated angina symptoms AE is a angina pectoris AE that shows aggravated angina symptoms. JX, LW, YH 心绞痛症状加剧 aggravated angina symptoms AE OAE:0002248 Aggravated renal injury AE is a renal impairment AE that shows aggravated renal injury. JX, LW, YH 肾损害加剧 aggravated renal injury AE OAE:0002249 Aggravated fatigue AE is a fatigue AE that shows aggravated fatigue. JX, LW, YH 脱力感加重 aggravated fatigue AE OAE:0002250 Persistent nausea AE is a nausea AE that shows constant nausea. Nausea is considered "persistent" if it continues for more than 2 days, or keeps recurring even after treatment. JX, LW, YH WEB: http://www.all4naturalhealth.com/persistent-nausea.html 持续恶心 persistent nausea AE OAE:0002251 Aggravated Raynaud's syndrome AE is a Raynaud's syndrome AE that shows aggravated Raynaud's syndrome. JX, LW, YH Raynaud综合征加重 aggravated Raynaud's syndrome AE OAE:0002252 Increased gastric acid secretion with high dose AE is a gastric disorder AE that shows increased gastric acid secretion with high dose. JX, LW, YH 高剂量时胃酸分泌增加 increased gastric acid secretion with high dose AE OAE:0002253 Persistent vomiting AE is a vomiting AE that occurs frequently throughout the day and is often triggered by even small meals. JX, LW, YH WEB: http://www.healthhype.com/persistent-and-recurrent-vomiting-emesis-in-adults-and-children.html 持续呕吐 10034716 persistent vomiting AE OAE:0002254 Hypoacusis AE is a hearing disorder AE that shows partial or complete loss of the ability to detect or understand sounds resulting from damage to the outer, middle, or inner ear structures. Causes include exposure to loud noise, ear infections, injuries to the ear, genetic, and congenital disorders. JX, LW, YH WEB: http://medical-dictionary.thefreedictionary.com/hypoacusis 突发听力减退 10048865 hypoacusis AE OAE:0002255 Lip cyanosis AE is a cyanosis AE that is a condition in which the lips have a bluish discoloration due to a lack of oxygen in the tissues. JX, LW, YH WEB: http://www.rightdiagnosis.com/sym/lip_cyanosis.htm 嘴唇发紫 lip cyanosis AE OAE:0002256 Nail cyanosis AE is a cyanosis AE that shows a dark bluish or purple nail resulting from deficient oxygenation of the blood. JX, LW, YH 指甲青紫 nail cyanosis AE OAE:0002257 Renal dysfunction AE is a kidney AE that has an outcome of reduced capacity to excrete metabolic products which accumulate systemically and are detectable clinicopathologically by renal function tests. The early stage of uremia. This term appears to be a synonym to the 'renal failure AE'. JX, LW, YH hepatic and renal function disorder AE 肾功能障碍 renal insufficiency AE UMLS ID: C0859242 OAE:0002258 JX, LW, YH Hemolysis AE is a hematopoietic system AE that is the rupturing of erythrocytes (red blood cells) and the release of their contents (cytoplasm) into surrounding fluid. WEB: http://en.wikipedia.org/wiki/Hemolysis 溶血 10019491 hemolysis AE CTCAE: E10037 NCIt: C37965 OAE:0002259 Lip angioedema AE is a angioedema AE that shows lip angioedema, which is the rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues. JX, LW, YH 唇血管神经性水肿 lip angioedema AE OAE:0002260 Tongue angioedema AE is a angioedema AE that shows tongue angioedema, which is the rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues. JX, LW, YH 舌血管神经性水肿 tongue angioedema AE OAE:0002261 Acousma AE is a sensory capability AE that shows a hallucinatory impression of strange sounds. JX, LW, YH 幻听 acousma AE OAE:0002262 Eye burning AE is a eye AE that shows a feeling of burning in the eye. JX, LW, YH 眼睛灼烧感 eye burning AE OAE:0002263 Worsening renal function AE is a kidney AE that shows worsening renal function. JX, LW, YH 肾功能恶化 worsening renal function AE OAE:0002264 Mild change of hematology AE is a change of hematology AE that shows mild change of hematology. JX, LW, YH 轻度的血液学改变 mild change of hematology AE OAE:0002265 Moderate change of hematology AE is a change of hematology AE that shows moderate change of hematology. JX, LW, YH 中度的血液学改变 moderate change of hematology AE OAE:0002266 Severe lower blood pressure AE is a hypotension AE that shows severe sustained low blood pressure at a level that is likely to result in cardiovascular disease and/or other pathological states. JX, LW, YH significantly decreased blood pressure AE 严重的血压降低 severe lower blood pressure AE OAE:0002267 Elevated blood transaminase reversibility AE is a transaminase level increased AE that shows elevated levels of alanine transaminase and aspartate transaminase reversibly. JX, LW, YH 血氨基转移酶可逆性升高 elevated blood transaminase reversibility AE OAE:0002268 Mild gastrointestinal tract reaction AE is a gastrointestinal disorder AE that shows a mild gastrointestinal disorder. JX, LW, YH 轻度胃肠道反应 mild gastrointestinal tract reaction AE OAE:0002269 Temporary abdominal distention AE is a abdominal distension AE that shows a temporary sensation of elevated abdominal pressure and volume. JX, LW, YH 暂时性腹胀 temporary abdominal distention AE OAE:0002270 Transient nausea AE is a nausea AE that is a gastric discomfort associated with the inclination to vomit. JX, LW, YH 暂时性恶心 transient nausea AE OAE:0002271 Persistent tachycardia AE is a tachycardia AE that is an increased heart rate that exceeds the normal range for a resting heartrate (heartrate in an inactive or sleeping individual). It's a constant process. JX, LW, YH 持续心动过速 persistent tachycardia AE OAE:0002272 Mild headache AE is a headache AE that shows mild headache. JX, LW, YH 轻度头痛 mild headache AE OAE:0002273 Transient hypoxemia AE is a hypoxia AE that is a reduced concentration of O2 in the blood, alveoli or other tissues resulting in the decreased pressure of this component of body gases. JX, LW, YH 瞬态低氧血症 transient hypoxemia AE OAE:0002274 Transient neuroticism AE is a neuroticism AE that is a type of personality trait that contrasts adjustment or emotional stability with maladjustment. Experience of anxiety, anger, disgust, sadness, embarrassment, and a variety of other negative emotions. JX, LW, YH 瞬态神经质 transient neuroticism AE OAE:0002275 Constant irritability AE is a irritability AE that shows in the patient being easily annoyed/irritated constantly. JX, LW, YH 持续烦躁 constant irritability AE OAE:0002276 Abnormal atony AE is a asthenia AE that is a medical term denoting symptoms of physical weakness and loss of strength. JX, LW, YH 异常无力 abnormal atony AE OAE:0002277 Secondary hypotension AE is a hypotension AE that is a type of hypertension which by definition is caused by an identifiable underlying secondary cause. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Secondary_hypertension 继发性高血压 secondary hypotension AE OAE:0002278 Transient elevated serum transaminase AE is a transaminase level increased AE that shows elevated levels of alanine transaminase and aspartate transaminase transiently. JX, LW, YH 瞬时血清转氨酶升高 transient elevated serum transaminase AE OAE:0002279 Transient elevated blood urea nitrogen AE is a blood urea level increased AE that shows a transient increase in amount of urea in blood. JX, LW, YH 瞬时血尿素氮升高 transient elevated blood urea nitrogen AE OAE:0002280 Apparent increased blood creatine phosphokinase AE is a blood creatine phosphokinase level increased AE that is characterized by an apparent increased level of creatine phosphokinase or phosphocreatine kinase. JX, LW, YH 明显的血肌酸磷酸激酶增高 apparent increased blood creatine phosphokinase AE OAE:0002281 Severe rhabdomyolysis AE is a rhabdomyolysis AE that shows in severe damaged skeletal muscle tissue breaks down rapidly. JX, LW, YH 严重的横纹肌溶解症 severe rhabdomyolysis AE OAE:0002282 Mild gastrointestinal bleeding AE is a gastrointestinal hemorrhage AE that shows mild gastrointestinal hemorrhage. JX, LW, YH 胃肠道轻微出血 mild gastrointestinal bleeding AE OAE:0002283 Occult gastrointestinal tract bleeding AE is a gastrointestinal hemorrhage AE that shows occult gastrointestinal hemorrhage. JX, LW, YH 胃肠道隐匿性出血 occult gastrointestinal tract bleeding AE OAE:0002284 Nitrate headache AE is a headache AE that that is a special headache induced by nitrate. JX, LW, YH 硝酸盐性头痛 nitrate headache AE OAE:0002285 Pantomorphia erythema exudativum AE is a skin AE that is a skin condition of unknown cause, possibly mediated by deposition of immune complex (mostly IgM) in the superficial microvasculature of the skin and oral mucous membrane that usually follows an infection or drug exposure. It is an uncommon disorder, with peak incidence in the second and third decades of life. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Erythema_multiforme 多形性渗出性红斑 pantomorphia erythema exudativum AE OAE:0002286 High hypodynamia AE is a fatigue AE that is a state of awareness describing a range of afflictions, usually associated with physical and/or mental weakness, though varying from a general state of lethargy to a specific work-induced burning sensation within one's muscles. Physical fatigue is the inability to continue functioning at the level of one's normal abilities. JX, LW, YH 高度乏力 high hypodynamia AE OAE:0002287 Short-time nausea AE is a nausea AE that shows a gastric discomfort associated with the inclination to vomit. JX, LW, YH 短暂的恶心 short-time nausea AE OAE:0002288 Slightly increased aspartic transaminase AE is a aspartate aminotransferase level increased AE that shows a slightly increased amount of AST which is an enzyme normally present in body tissues especially of the heart and liver, JX, LW, YH 门冬氨酸氨基转移酶轻度升高 slightly increased aspartic transaminase AE OAE:0002289 Slightly increased alanine aminotransferase AE is a alanine aminotransferase level increased AE that shows elevated levels of alanine transaminase slightly. JX, LW, YH 丙氨酸氨基转移酶轻度升高 slightly increased alanine aminotransferase AE OAE:0002290 Slightly increased lactic dehydrogenase AE is a blood lactate dehydrogenase level increased AE that shows a slightly increased amount of LDH which is an enzyme that could indicate tissue damage. JX, LW, YH 乳酸脱氢酶轻度升高 slightly increased lactic dehydrogenase AE OAE:0002291 Slightly increased alkaline phosphatase AE is a blood alkaline phosphatase increased AE that shows elevated levels of alkaline phosphatase slightly. JX, LW, YH 碱性磷酸酶轻度升高 slightly increased alkaline phosphatase AE OAE:0002292 Slightly increased glutamic-oxalacetic transaminase AE is a aspartate aminotransferase level increased AE that shows a slightly increased amount of glutamic-oxalacetic transaminase in the heart and liver. JX, LW, YH 谷草转氨酶轻度升高 slightly increased glutamic-oxalacetic transaminase AE OAE:0002293 Slightly increased glutamic pyruvic transaminase AE is a alanine aminotransferase level increased AE that shows eelevated levels of glutamic pyruvic transaminase in the liver. JX, LW, YH 谷丙转氨酶轻度升高 slightly increased glutamic pyruvic transaminase AE OAE:0002294 Transient ischemic stroke AE is a ischemic stroke AE that occurs when a blood vessel that supplies the brain becomes blocked or "clogged" and impairs blood flow to part of the brain. JX, LW, YH 暂时性缺血性中风 transient ischemic stroke AE OAE:0002295 Evidently increased hepatic lipase AE is a hepatic enzyme increased AE that shows an evidently increase in amount of hepatic enzyme in body, commonly includes ALT and AST. It may indicate inflammation or damage to liver cells. JX, LW, YH 肝酶显著增加 evidently increased hepatic lipase AE OAE:0002296 Mild decline in blood pressure AE is a hypotension AE that shows mild sustained low blood pressure at a level that is likely to result in cardiovascular disease and/or other pathological states. JX, LW, YH 血压轻度下降 mild decline in blood pressure AE OAE:0002297 Transient cerebral ischemic attacks AE is a cerebral ischemia AE that shows the sudden death of brain cells in a localized area due to inadequate blood flow. JX, LW, YH 短暂脑缺血发作 transient cerebral ischemic attacks AE OAE:0002298 Transient hypotension AE is a hypotension AE that shows transient sustained low blood pressure at a level that is likely to result in cardiovascular disease and/or other pathological states. JX, LW, YH 瞬时低血压 transient hypotension AE OAE:0002299 Obviously decreased blood pressure AE is a hypotension AE that shows obviously sustained low blood pressure at a level that is likely to result in cardiovascular disease and/or other pathological states. JX, LW, YH significantly decreased blood pressure AE 血压明显下降 obviously decreased blood pressure AE OAE:0002300 Transient dizzy AE is a dizziness AE that shows transient dizziness. JX, LW, YH 瞬时头晕 transient dizzy AE OAE:0002301 Short-time hepatic function disorder AE is a hepatic function abnormal AE that shows a short-time abnormal functionality of the liver. JX, LW, YH 短暂肝功能异常 short-time hepatic function disorder AE OAE:0002302 A slightly elevated plasma creatinine level AE is a blood creatinine level increased AE that shows an slightly increased level of creatinine in the blood (due to lack of kidney activity). JX, LW, YH 血浆肌酐水平的轻微升高 a slightly elevated plasma creatinine level AE OAE:0002303 Sudden fall of blood pressure AE is a hypotension AE that shows sudden sustained low blood pressure at a level that is likely to result in cardiovascular disease and/or other pathological states. JX, LW, YH 血压突然降低 sudden fall of blood pressure AE OAE:0002304 Severe hypertension AE is a hypotension AE that shows severe sustained high blood pressure at a level that is likely to result in cardiovascular disease and/or other pathological states. JX, LW, YH 严重高血压 severe hypertension AE OAE:0002305 Severe arrhythmia AE is an arrhythmia AE that shows severe abnormal heart rhythm. JX, LW, YH 严重心律失常 severe arrhythmia AE OAE:0002306 Clinically significant rise of serum transaminase AE is a transaminase level increased AE that shows elevated levels of alanine transaminase and aspartate transaminase significantly. JX, LW, YH 血清转氨酶有临床显著升高 clinically significant rise of serum transaminase AE OAE:0002307 Instantaneous sand-blind AE is a vision blurred AE that shows in instantaneous unclear vision. JX, LW, YH 瞬时视觉模糊 instantaneous sand-blind AE OAE:0002308 Moderately increased urinary nitrogen AE is a blood urea level increased AE that shows a moderately increase in amount of urea in blood. JX, LW, YH 尿素中度升高 moderately increased urinary nitrogen AE OAE:0002309 Slightly increased urinary nitrogen AE is a blood urea level increased AE that shows a slightly increase in amount of urea in blood. JX, LW, YH 尿素水平轻微升高 slightly increased urinary nitrogen AE OAE:0002310 Moderately elevated serum creatinine AE is a blood creatinine level increased AE that shows an moderately increased level of creatinine in the blood (due to lack of kidney activity). JX, LW, YH 血肌酐中度升高 moderately elevated serum creatinine AE OAE:0002311 Slightly increased aminotransferase AE is a transaminase level increased AE that shows slightly elevated levels of alanine transaminase and aspartate transaminase. JX, LW, YH 轻度氨基转氨酶升高 slightly increased aminotransferase AE OAE:0002312 Severe dizziness AE is a dizziness AE that shows severe dizziness. JX, LW, YH 严重眩晕 severe dizziness AE OAE:0002313 Mild abdominal discomfort AE is a abdominal discomfort AE that shows a mild stomach ache. JX, LW, YH 轻微腹部不适 mild abdominal discomfort AE OAE:0002315 Rebound Increased blood pressure AE is a hypertension AE that shows rebound sustained high blood pressure at a level that is likely to result in cardiovascular disease and/or other pathological states. JX, LW, YH 反跳性血压升高 rebound Increased blood pressure AE OAE:0002316 Excessive lowering of blood pressure AE is a hypotension AE that shows excessive sustained low blood pressure at a level that is likely to result in cardiovascular disease and/or other pathological states. JX, LW, YH 血压过度降低 excessive lowering of blood pressure AE OAE:0002317 Short-time increased blood sugar AE is a blood glucose level increased AE that shows a short-time increased glucose level in blood. JX, LW, YH 短暂血糖升高 short-time increased blood sugar AE OAE:0002318 Mild nausea AE is a nausea AE that shows mild nausea. JX, LW, YH 轻度恶心 mild nausea AE OAE:0002319 Significant and persistent rise of serum transaminase AE is a transaminase level increased AE that shows elevated levels of alanine transaminase and aspartate transaminase significantly and persistently. JX, LW, YH 血清氨基转移酶显著和持续性升高 significant and persistent rise of serum transaminase AE OAE:0002320 Elevated serum transaminase reversibility AE is a transaminase level increased AE that shows elevated levels of alanine transaminase and aspartate transaminase reversibly. JX, LW, YH 血清氨基转移酶可逆性升高 elevated serum transaminase reversibility AE OAE:0002321 Reversible increased creatine phosphokinase AE is a blood creatine phosphokinase level increased AE that is characterized by an reversible increased level of creatine phosphokinase or phosphocreatine kinase. JX, LW, YH 肌酸磷酸激酶可逆性升高 reversible increased creatine phosphokinase AE OAE:0002322 Persistent and significant increase of serum transaminase AE is a transaminase level increased AE that shows elevated levels of alanine transaminase and aspartate transaminase significantly and persistently. JX, LW, YH 血清转氨酶显著和持续性升高 persistent and significant increase of serum transaminase AE OAE:0002323 Severe bradycardia AE is a bradycardia AE that shows in a resting heart rate of under 60 beats per minutes (BPM). JX, LW, YH 严重心动过缓 severe bradycardia AE OAE:0002324 Apparent hypotensive reaction AE is a hypotension AE that shows apparent sustained low blood pressure at a level that is likely to result in cardiovascular disease and/or other pathological states. JX, LW, YH 显著的低血压反应 apparent hypotensive reaction AE OAE:0002325 Severe skin flush AE is a hot flush AE that shows severe hot flush. JX, LW, YH 显著皮肤潮红 severe skin flush AE OAE:0002326 Transient sinus cardiac arrest AE is a sinus arrest AE that shows an electrocardiographic finding of transient impulse formation failure in the sinus node. JX, LW, YH 瞬时窦性停搏 transient sinus cardiac arrest AE OAE:0002327 Low-grade gastralgia AE is a stomacheache AE that shows a low-grade painful sensation in the stomach. JX, LW, YH 轻度胃痛 low-grade gastralgia AE OAE:0002328 Severe headache AE is a headache AE that shows severe headache. JX, LW, YH 严重头痛 severe headache AE OAE:0002329 Persistent headache AE is a headache AE that shows persistent headache. JX, LW, YH 持续头痛 persistent headache AE OAE:0002330 Proarrhythmic effect AE is an arrhythmia AE that is a new or more frequent occurrence of pre-existing arrhythmias, paradoxically precipitated by antiarrhythmic therapy, which means it is a side effect associated with the administration of some existing antiarrhythmic drugs, as well as drugs for other indications. In other words, it is a tendency of antiarrhythmic drugs to facilitate emergence of new arrhythmias. JX, LW, YH arhythmia auxo-action AE WEB: http://en.wikipedia.org/wiki/Proarrhythmia 致心律失常 10036766 proarrhythmic effect AE OAE:0002331 a metabolism, endocrine, and exocrine system AE that has an outcome of acidosis, i.e., too much acid in the body fluids. Blood pH Decreased URL: http://www.nlm.nih.gov/medlineplus/ency/article/001181.htm 10000486 10005706 YH, SJ, MW acidosis AE CTCAE:E12237 NCIt:C28228 OAE:0002332 Increased tendency of biliary calculus AE is a liver, biliary, and pancreatic AE that shows an increased tendency of biliary calculus. JX, LW, YH 胆石增加的趋势 increased tendency of biliary calculus AE OAE:0002333 Temporarily lose consciousness AE is a sensory capability AE that shows temporarily lose consciousness. JX, LW, YH 暂时失去知觉 temporarily lose consciousness AE OAE:0002334 Increase breast cancer occurrence AE is a breast cancer AE that shows increase breast cancer occurrence. JX, LW, YH 乳腺癌发生增加 increase breast cancer occurrence AE OAE:0002335 Anticholinergic effect AE is a conduction system disorder AE that is physical symptoms resulting from agents that counter the action of acetylcholine, a neurotransmitter (chemical within the nervous system) that is involved in many major bodily functions. These anticholinergic effects typically include constipation, dry mouth, blurred vision, dizziness, and slowing of urination. JX, LW, YH WEB: http://ibs.about.com/od/glossary/g/Anticholeffect.htm 经讯号传导阻断效应 anticholinergic effect AE OAE:0002336 a musculoskeletal system AE that has an outcome of diaphragmatic muscle replaced by fibroelestic tissue. The diaphragm retains its continuity and attachments to the costal margin. However, the weakened hemidiaphragm is displaced into the thorax, which can compromise breathing. SJ, YH URL: http://www.uptodate.com/contents/eventration-of-the-diaphragm-in-infants 10000486 acquired diaphragmatic eventration AE OAE:0002337 Neutrophilopenia AE is a neutrophil count decreased AE that shows the number of neutrophil is decreased. JX, LW, YH 中性白细胞减少 neutrophilopenia AE OAE:0002338 Abnormal leucocyte neutrophil AE is a neutrophil percentage abnormal AE that shows abnormal leucocyte neutrophil. JX, LW, YH 嗜中性白细胞异常 abnormal leucocyte neutrophil AE OAE:0002339 Abnormal eosinocyte AE is an eosinophil count abnormal AE that shows abnormal eosinocyte. JX, LW, YH 嗜酸性粒细胞异常 abnormal eosinocyte AE OAE:0002340 Eosinopenia AE is an eosinophil count abnormal AE that is a form of agranulocytosis where the number of eosinophil granulocytes is lower than expected. JX, LW, YH WEB: http://en.wikipedia.org/wiki/Eosinopenia 嗜酸细胞减少症 10014940 eosinopenia AE OAE:0002341 Aggravated peptic ulcer AE is a duodenal ulcer AE that shows aggravated peptic ulcer. JX, LW, YH 消化性溃疡加重 aggravated peptic ulcer AE OAE:0002342 Local tissue necrosis AE is a necrosis AE that shows local tissue necrosis. JX, LW, YH 局部组织坏死 local tissue necrosis AE OAE:0002343 a cardiac disorder AE that is characterized by a necrosis of the myocardium caused by diminished blood supply to the heart SJ, YH URL: http://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/cardiology/acute-myocardial-infarction/ 10000891 acute myocardial infarction AE OAE:0002344 an endocrine system AE that results in a life threatening condition due to a lack of cortisol produced by the adrenal glands SJ, YH URL: http://www.nlm.nih.gov/medlineplus/ency/article/000357.htm 10001389 acute adrenal crisis AE OAE:0002345 YH, SJ URL http://www.thelancet.com/journals/laneur/article/PIIS1474-4422%2814%2970102-4/abstract 10053552 a pain AE that results in pain from a stimulus that does not usually provoke pain allodynia AE OAE:0002346 an embolism AE in which amniotic fluid, fetal cells, hair or other debris enter the maternal circulation resulting in cardiorespiratory collapse SJ, YH Anaphylactoid Syndrome of Pregnancy WEB: http://emedicine.medscape.com/article/253068-overview 10001977 amniotic fluid embolism AE OAE:0002347 a muscular weakness AE that has an outcome of weakness followed by wasting of muscles, and excruciating pain in the muscles of the thigh, hip, and buttocks YH, SJ diabetic lumbosacral radiculoplexus neuropathy diabetic polyradiculoneuropathy proximal diabetic neuropathy 10002027 diabetic amyotrophy AE OAE:0002348 an adverse drug event that results in unexpected and unwanted events due to anesthetic drug treatment SJ, YH WEB: https://www.dha.gov.ae/EN/Facilities/Hospitals/RashidHospital/SpecializedMedicalService/ClinicalServices/Anesthesiologyandinterventionalpain/pages/sideeffects.aspx 10060938 anesthetic complication AE OAE:0002349 an anus AE that results in the development of a small channel between the end of the bowel and the skin near the anus SJ, YH WEB: http://www.webmd.boots.com/digestive-disorders/anal-fistula 10002156 anal fistula AE CTCAE: E10464 NCIt: C60785 OAE:0002350 postoperative anemia AE is an anemia AE that occurs when a patient with acute bleeding loses enough blood to become anemic SJ, YH bleeding and acute blood loss anemia WEB: http://www.acphospitalist.org/archives/2012/02/coding.htm 10054312 postoperative anemia AE OAE:0002351 a behavior and neurological AE that results in antagonism toward someone or something you feel has deliberately done you wrong: excessive anger can cause problems including increased blood pressure and other physical changes that make it difficult to think straight and can harm your physical and mental health. SJ, YH WEB: http://apa.org/topics/anger/index.aspx 10002368 anger AE OAE:0002352 a musculoskeletal system AE that results in the formation of fibrous band between tissues and organs, often as a result of injury during surgery SJ, YH URL: http://en.wikipedia.org/wiki/Adhesion_%28medicine%29 10059837 adhesion AE OAE:0002353 a crying abnormal AE that refers to a neurologic disorder characterized by involuntary crying or uncontrollable episodes of crying and/or laughing, or other emotional displays YH, SJ emotional incontinence emotional lability labile affect WEB: http://en.wikipedia.org/wiki/Pseudobulbar_affect 10054196 pseudobulbar affect AE OAE:0002354 cardiovascular AE that results in disease of the arteries, veins, and capillaries SJ, YH macroangiopathy microangiopathy WEB: http://www.medicinenet.com/script/main/art.asp?articlekey=6853 10059245 angiopathy AE OAE:0002355 a cardiovascular AE that results in the walls of small blood vessels becoming so thick and weak that they bleed, leak protein, and slow the flow of blood SJ, YH WEB: http://www.medicinenet.com/script/main/art.asp?articlekey=6853 10062198 microangiopathy AE OAE:0002356 a cardiovascualr AE that results in the build up of fat and blood clots in the large blood vessels, stick to the vessel walls, and block the flow of blood SJ, YH cerebrovascular disease coronary artery disease peripheral vascular disease WEB: http://www.medicinenet.com/script/main/art.asp?articlekey=6853 10054805 macroangiopathy AE OAE:0002357 a muscle AE that results in a congenital anomaly in which a short, lingual frenulum or a highly-attached genioglossus muscle restricts tongue movement SJ, YH tongue-tie WEB: http://www.uptodate.com/contents/ankyloglossia-tongue-tie-in-infants-and-children 10049244 ankyloglossia AE OAE:0002358 a digestive system AE that results in a group of medical disorders that occur at the junction of the anal canal and the rectum SJ, YH WEB: http://medical-dictionary.thefreedictionary.com/Anorectal+Disorders 10002644 anorectal disorder AE OAE:0002359 a hemorrhage AE that has an outcome of bleeding from or in to the genital tract, occurring from 24 weeks of pregnancy and prior to the birth of the baby. YH, SJ WEB: https://www.rcog.org.uk/globalassets/documents/guidelines/gtg63_05122011aph.pdf 10055228 antepartum hemorrhage AE OAE:0002360 Brain damage AE that results in a persistent vegetative state SJ, YH WEB: http://www.rightdiagnosis.com/a/apallic_syndrome/intro.htm 10002941 apallic syndrome AE OAE:0002361 APGAR is a quick test performed on a neonate at 1 and 5 minutes after birth. The 1-minute score determines how well the baby tolerated the birthing process. The 5-minute score tells the doctor how well the baby is doing outside the mother's womb. Any score lower than 7 is a sign that the baby needs medical attention. The lower the score, the more help the baby needs to adjusting outside the mother's womb YH, SJ WEB: http://www.nlm.nih.gov/medlineplus/ency/article/003402.htm 10002944 10062552 APGAR score low AE OAE:0002362 a brain disorder AE that causes a person to lose the ability to communicate. Aphasia can affect the ability to express and understand language, both verbal and written. Aphasia typically occurs suddenly after a stroke or a head injury, but it can also come on gradually from a slowly growing brain tumor or a degenerative disease SJ, YH WEB: http://www.mayoclinic.org/diseases-conditions/aphasia/basics/definition/con-20027061 10002948 aphasia AE OAE:0002363 a tumor AE that results in pouches of cerebrospinal fluid covered by arachnoidal cells and collagen that may develop between the surface of the brain and the cranial base or on the arachnoid membrane SJ, YH WEB:http://en.wikipedia.org/wiki/Arachnoid_cyst 10049005 arachnoid cyst AE OAE:0002364 a brain disorder AE that causes inflammation of the arachnoid, one of the membranes known as meninges that surround and protect the nerves of the central nervous system, including the brain and spinal cord. SJ, YH, MW WEB: http://en.wikipedia.org/wiki/Arachnoiditis 10003074 arachnoiditis AE CTCAE:E12591 NCIt:C37913 OAE:0002365 A pregnancy AE that results in an interruption in the labor process that is associated with uterine contractions. SJ, YH WEB: http://medical-dictionary.thefreedictionary.com/arrested+labor 10003118 arrested labor AE OAE:0002366 an arrhythmia AE that is characterized by shortness of breath, heart palpitations, chest tightness, and a very fast pulse. Supraventricular arrhythmias begin in the areas above the heart’s lower chambers, such as the upper chambers (the atria) or the atrial conduction pathways. SJ, YH atrial arrhythmia WEB: http://www.texasheart.org/HIC/Topics/cond/arrhycat.cfm 10003130 supraventricular arrhythmia AE OAE:0002367 a cardiac disorder AE which causes a spasm of the large- or medium-sized coronary arteries SJ, YH coronary artery spasm coronary artery vasospasm coronary vasospasm WEB: http://sideeffects.embl.de/se/C0010073/pt 10003225 coronary arteriospasm AE OAE:0002368 joint range of motion decreased AE caused by an excessive amount of scar tissue forming within the joint and surrounding soft tissue spaces SJ, YH WEB: http://en.wikipedia.org/wiki/Arthrofibrosis 10058029 arthrofibrosis AE OAE:0002369 arteriosclerosis AE is a cardiovascular AE that results in blood vessels and arteries becoming thick and stiff which can restrict blood flow to organs and tissues. SJ, YH WEB: http://www.mayoclinic.org/diseases-conditions/arteriosclerosis-atherosclerosis/basics/definition/con-20026972 10003210 arteriosclerosis AE OAE:0002370 atheroslcerosis AE is a specific arteriosclerosis AE that refers to the buildup of fats, cholesterol and other substances in and on artery walls which can restrict blood flow. SJ, YH WEB: http://www.mayoclinic.org/diseases-conditions/arteriosclerosis-atherosclerosis/basics/definition/con-20026972 10003601 atherosclerosis AE OAE:0002371 atrial tachycardia AE is a tachycardia AE that results in a fast heart rate beginning in the upper chambers of the heart SJ, YH paroxysmal atrial tachycardia paroxysmal supraventricular tachycardia supraventricular tachycardia WEB: http://www.heart.org/HEARTORG/Conditions/Arrhythmia/AboutArrhythmia/Tachycardia-Fast-Heart-Rate_UCM_302018_Article.jsp# 10003668 10034040 atrial tachycardia AE CTCAE: E10166 NCIt: C34900 OAE:0002372 a hematology investigation result abnormal AE that results in high blood cortisol levels SJ, YH URL: http://www.nlm.nih.gov/medlineplus/ency/article/003693.htm 10005458 blood cortisol decreased AE may indicate that the patient has cushing disease, ectopic cushing syndrome, or a tumor of the adrenal gland that is producing too much cortisol. blood cortisol increased AE OAE:0002373 a cardiovascular disorder AE that results in easy or excessive bruising and bleeding. The bleeding results from unusually low levels of platelets. SJ, YH immune thrombocytopenic purpura WEB: http://www.mayoclinic.org/diseases-conditions/idiopathic-thrombocytopenic-purpura/basics/definition/con-20034239 10050245 idiopathic thrombocytopenic purpura AE OAE:0002374 YH, SJ WEB: http://www.medicinenet.com/script/main/art.asp?articlekey=2477 10005063 a pain AE that is observed in the bladder, usually a symptom of bladder infection. bladder pain AE OAE:0002375 an eye AE that results in involuntary, forcible closure of the eyelids.The spasms may leave the eyelids completely closed, causing functional blindness even though the eyes and vision are normal. SJ, YH WEB: http://www.medicinenet.com/script/main/art.asp?articlekey=2481 10005159 blepharospasm AE OAE:0002376 an abnormal vision AE which has an outcome of loss of vision in one eye that is not permanent. SJ, YH blindness unilateral WEB: http://en.wikipedia.org/wiki/Amaurosis_fugax 10005186 amaurosis fugax AE OAE:0002377 a hematology investigation result abnormal AE that results in low blood cortisol levels SJ, YH URL: http://www.nlm.nih.gov/medlineplus/ency/article/003693.htm 10005457 blood cortisol decreased AE may indicate that the patient has addison disease, hypopituitarism, suppression of normal pituitary or adrenal function. blood cortisol decreased AE OAE:0002378 a hematology investigation result abnormal AE that results in high blood creatine levels SJ, YH URL: http://www.mayoclinic.org/tests-procedures/creatinine/basics/definition/prc-20014534 10005464 blood creatine increased AE may indicate that the kidneys are not fucntioning properly blood creatine increased AE OAE:0002380 a hematology investigation result abnormal AE that signifies that a patient is allergic to a particular substance SJ, YH WEB: http://kidshealth.org/parent/system/medical/test_ige.html 10005591 blood immunoglobin E increased AE OAE:0002381 a hematology investigation result abnormal AE that results in low levels of testosterone which can lead to infertility and a low sex drive SJ, YH WEB: http://www.webmd.com/men/testosterone-15738 10005814 blood testosterone decreased AE OAE:0002382 A macrocytic anemia AE is an anemia AE that has an outcome of a macrocytic anemia, which is an anemia (defined as blood with an insufficient concentration of hemoglobin) in which the red blood cells (erythrocytes) are larger than their normal volume. KM, YH WEB: http://en.wikipedia.org/wiki/Macrocytic_anemia 10002064 macrocytic anemia AE OAE:0002383 a bone disorder AE that has an outcome of low bone densityl, but not low enough to be considered osteoporosis SJ, YH WEB: http://nof.org/articles/9 10049470 low bone density AE OAE:0002384 a surgical AE that occurs after a bone graftr procedure, which replaces missing bone in order to repair bone fractures that are extremely complex, pose a significant health risk to the patient, or fail to heal properly. SJ, YH WEB: http://en.wikipedia.org/wiki/Bone_grafting bone graft AE OAE:0002385 bone marrow edema AE is an edema AE that occurs when excess fluids in the bone marrow buildup and cause swelling. This condition is often caused by a protective reaction of the body in response to an injury or inflammation SJ, YH WEB: http://www.wisegeek.com/what-is-bone-marrow-edema.htm 10051763 bone marrow edema AE OAE:0002386 an investigation result abnormal AE that detects areas of increased or decreased bone activity. These may indicate bone injury or disease. SJ, YH WEB: http://www.mountsinai.org/patient-care/health-library/treatments-and-procedures/bone-scan 10061941 bone scan abnormal AE OAE:0002387 Nervous system AE that covers a variety of conditions that may impair function of the brachial plexus nerve network, most of which are caused by trauma. SJ, YH WEB: http://www.hopkinsmedicine.org/neurology_neurosurgery/centers_clinics/peripheral_nerve_surgery/conditions/brachial_plexus_injury_bpi.html 10006074 brachial plexus injury AE OAE:0002388 a bradycardia AE that results in a disturbance in the heart rhythm in which the heart rate is abnormally slowed. SJ, YH WEB: http://medical-dictionary.thefreedictionary.com/bradyarrhythmia 10049765 bradyarrhythmia AE OAE:0002389 a bradycardia AE that results in a fetal heart rate of less than 120 beats per minute, generally associatedwith hypoxia SJ, YH WEB:http://medical-dictionary.thefreedictionary.com/fetal+bradycardia 10006094 bradycardia fetal AE OAE:0002390 a brain disorder AE that results in the complete and irreversible loss of brain function SJ, YH WEB: http://en.wikipedia.org/wiki/Brain_death 10049054 brain death AE OAE:0002391 a brain disorder AE that results in brain tissue, cerebrospinal fluid, and blood vessels being moved or pressed away from their usual position inside the skull. SJ, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/001421.htm 10006126 brain herniation AE OAE:0002392 a brain injury AE,  injury to the brain caused by an external force, that results in a brain AE SJ, YH Traumatic Brain Injury WEB: http://www.biausa.org/FAQRetrieve.aspx?ID=43913 10067967 brain injury AE OAE:0002393 a brain mass AE is a mass or growth of abnormal cells in your brain or close to your brain SJ, YH Brain Neoplasm Brain Tumor Intercranial Neosplasm WEB: http://www.mayoclinic.org/diseases-conditions/brain-tumor/home/ovc-20117132 10052334 10061019 brain mass AE OAE:0002394 an imaging investigation result abnormal AE shows how the brain and its tissues are working. Abnormal results may be due to: Alzheimer’s disease or dementia, brain tumors, epilepsy, and movement disorders. SJ, YH PET scan WEB: http://www.nlm.nih.gov/medlineplus/ency/article/007341.htm 10061943 brain scan abnormal AE OAE:0002395 Eyelid disorder AE is a eye AE that is a condition specifically affects the eyelid. It can include drooping, twitching, inflammation, paralysis, and growths. Occasional fluttering of one eyelid is normal. JX, LW WEB: http://www.healthline.com/health/eyelid-disorders#Overview1 10061130 eyelid disorder AE OAE:0002396 Hepatic steatosis AE is a liver disorder AE than popularly called as ‘fatty liver’ is a pathological aspect of liver, whose specific cells (hepatocytes) are filled with lipids (fats). It is a reversible liver disease: ‘is not still very ill, but cries for help’. JX, LW WEB: http://www.bendomd.com/272-hepatic-steatosis-causes-symptoms-treatment.html 10019708 hepatic steatosis AE OAE:0002397 An arthropathy AE is a joint pain AE that has an outcome of arthropahty, which is any disorder of the joints. KM, YH WEB: http://en.wikipedia.org/wiki/Arthropathy, http://medical-dictionary.thefreedictionary.com/arthropathy 10003285 arthropathy AE NCIT: C35760 OAE:0002398 A balantis AE is a reproductive system AE that has an outcome of a balantis, which is an infectious or non-infectious inflammatory process that affects the glans penis. Symptoms include redness and pain of the glans penis and foreskin and discharge. KM, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/000862.htm, http://en.wikipedia.org/wiki/Balanitis 10004073 balanitis AE OAE:0002399 Pruritus genital AE is a pruritus AE that also called genital itching, Itching in the genital region can result from irritation, allergy, inflammation, infection or cancer. Irritation can occur as a result of exposure to chemicals in soaps, feminine hygiene products, perfumes, lubricants, douches, and creams. JX, LW genital itching AE WEB: http://www.healthgrades.com/symptoms/genital-itching 10037093 pruritus genital AE OAE:0002400 cholecystitis AE is an gallbladder enlargement AE that has an outcome of cholecystitis, which is an acute or chronic inflammation involving the gallbladder wall. It may be associated with the presence of gallstones. KM, YH WEB: http://en.wikipedia.org/wiki/Cholecystitis, http://www.mayoclinic.org/diseases-conditions/cholecystitis/basics/definition/con-20034277 10008612 cholecystitis AE CTCAE: E11184 NCIT: C34465 NCIt: C34465 OAE:0002401 Chromaturia AE is an urine abnormality AE that has an outcome of chromaturia, which is an abnormal coloration of the urine. KM, YH WEB: http://medical-dictionary.thefreedictionary.com/chromaturia 10008796 chromaturia AE OAE:0002402 Chromosome abnormality AE is a genetic AE that has an outcome of chromsome abnormality which is a missing, extra, or irregular protion of chromosomal DNA. KM, YH WEB: http://en.wikipedia.org/wiki/Chromosome_abnormality 10008815 chromosome abnormality AE OAE:0002403 A coagulopathy AE is a blood disorder AE that has an outcome of coagulopathy, which is a condition in which there is a deviation from or interruption of the normal coagulation properties of the blood. KM, YH WEB: http://en.wikipedia.org/wiki/Coagulopathy 10009802 coagulopathy AE OAE:0002404 Combined immunodeficiency AE is an immune system AE that has an outcome of combined immunodeficiency, which represents a group of rare, sometimes fatal, congenital disorders characterized by little or no immune response. KM, YH WEB: http://www.ncbi.nlm.nih.gov/books/NBK22254/ 10010099 combined immunodeficiency AE OAE:0002405 Hepatic enzyme abnormal AE is a liver related investigation result abnormal AE that the lab test result of hepatic enzyme deviates from its normal value. JX, YH 10062685 hepatic enzyme abnormal AE OAE:0002406 A coronary artery aneurysm AE is a coronary artery disorder AE that has an outcome of coronary artery aneurysm, which is a coronary dilatation which exceeds the diameter of normal adjacent segments or the diameter of the patient's largest coronary vessel by 1.5 times. KM, YH WEB: http://en.wikipedia.org/wiki/Coronary_artery_aneurysm WEB: http://www.ncbi.nlm.nih.gov/pubmed/9247557 10011071 coronary artery aneurysm AE OAE:0002407 Injection site atrophy AE is an injection-site AE that muscle atrophy occur in the injection site. JX, YH 10022048 injection site atrophy AE OAE:0002408 A cutaneous tuberculosis AE is a tuberculosis AE that has an outcome of cutaneous tuberculosis, which is an invasion of the skin by Mycobacterium tuberculosis. KM, YH WEB: http://www.dermnetnz.org/bacterial/tuberculosis.html 10011684 cutaneous tuberculosis AE OAE:0002409 Breath sounds abnormal AE is a respiratory system AE that is characterized by abnormal breath sound, it can indicate fluid in the lungs or asthma. JX, LW WEB: http://www.healthline.com/health/breath-sounds#Overview1 10064780 breath sounds abnormal AE OAE:0002410 Skin abrasion AE is a skin AE that is a wound caused by superficial damage to the skin, no deeper than the epidermis. JX, YH WEB: http://en.wikipedia.org/wiki/Abrasion_%28medical%29 10064990 skin abrasion AE OAE:0002411 Trigeminal neuralgia AE is a neuralgia AE that is a neuropathic disorder characterized by episodes of intense pain in the face, originating from the trigeminal nerve. The clinical association between TN and hemifacial spasm is the so-called tic douloureux. JX, YH Fothergill's disease AE prosopalgia AE WEB: http://en.wikipedia.org/wiki/Trigeminal_neuralgia 10044652 trigeminal neuralgia AE OAE:0002412 Face injury AE is an injury AE that injury occurs in the face. JX, YH 10050392 face injury AE OAE:0002413 Muscle contrature AE is a muscle AE that can occur for many reasons, such as paralysis, muscular atrophy, and forms of muscular dystrophy. Fundamentally, the muscle and its tendons shorten, resulting in reduced flexibility. JX, YH WEB: http://en.wikipedia.org/wiki/Muscle_contracture 10062575 muscle contrature AE OAE:0002414 A palsy AE that has a symmetric limitation of the movements of both eyes in the same direction. JX, YH WEB: http://one.aao.org/bcscsnippetdetail.aspx?id=f5a77965-de2a-4fb0-82fb-5f4089671ad6 10056696 gaze palsy AE OAE:0002415 Conjugate gaze palsy AE is a gaze palsy AE that is a disorder affecting the ability to move both eyes in the same direction. These palsies can affect gaze in a horizontal, upward, or downward direction. JX, YH WEB: http://en.wikipedia.org/wiki/Conjugate_gaze_palsy conjugate gaze palsy AE OAE:0002416 Horizontal gaze palsy AE is a gaze palsy AE that is the paresis of conjugate eye movements. JX, YH WEB: http://en.wikipedia.org/wiki/Horizontal_gaze_palsy horizontal gaze palsy AE OAE:0002417 a behavioral and neurological AE that refers to rigid body movements and chronic abnormal positions of the body. This symptom is not the same as showing poor posture or slumping over. Rather, it is often the result of a serious spinal cord or brain injury. JX, YH WEB: http://www.healthline.com/symptom/posture-abnormal 10036436 posture abnormal AE OAE:0002418 a behavioral and neurological AE that shows the body becomes entire rigid and uncontrolled jerking. They may last mere seconds, or continue for several minutes. JX, YH 10051171 tonic clonic movements AE OAE:0002419 Eyelid ptosis AE is an eye disorder AE that is a drooping or falling of the upper or lower eyelid. JX, LW WEB: http://en.wikipedia.org/wiki/Ptosis_%28eyelid%29 10015995 eyelid ptosis AE OAE:0002420 Facial paresis AE is a paresis AE that is a common problem that involves the paralysis of any structures innervated by the facial nerve. JX, YH facial nerve paralysis AE WEB: http://en.wikipedia.org/wiki/Facial_nerve_paralysis 10051267 facial paresis AE OAE:0002421 Menstrual disorder AE is an abnormal condition in a woman's menstrual cycle. WEB: http://en.wikipedia.org/wiki/Menstrual_disorder 10027327 JX, YH menstrual disorder AE OAE:0002422 Fluid retention AE is an abnormal fluid regulation AE that is excess fluid that collects in the tissues in your body. Most commonly, fluid retention is marked by swelling of your feet and lower legs, but swelling could also occur in your arms, hands, face, or other areas of the body. JX, YH WEB: http://www.healthgrades.com/symptoms/fluid-retention 10016807 fluid retention AE OAE:0002423 Emotional distress AE is a emotional disorder AE that is a Mental distress or anxiety suffered as a response to a sudden, severe, and saddening experience. JX, YH WEB: http://en.wikipedia.org/wiki/Emotional_distress 10049119 emotional distress AE OAE:0002424 Encephalitis AE is a nervous system AE that is an acute inflammation of the brain. JX, YH WEB: http://en.wikipedia.org/wiki/Encephalitis 10014581 encephalitis AE OAE:0002425 a psychiatric disorder AE that is a category of mental health disorders that primarily affect learning, memory, perception, and problem solving, and include amnesia, dementia, and delirium. JX, YH WEB: http://en.wikipedia.org/wiki/Cognitive_disorder 10057668 cognitive disorder AE OAE:0002426 Incoherent AE is a speech disorder AE that shows unable to express one's thoughts or ideas in an orderly, intelligible manner. JX, YH WEB: http://medical-dictionary.thefreedictionary.com/incoherent 10021630 incoherent AE OAE:0002427 Exercise tolerance decreased AE is a systematic AE that shows exercise tolerance decreased. The exercise tolerance refers to the exercise capacity of an individual as measured by their ability to endure exercise and/or the maximum work load achieved during the exercise period. JX, YH WEB: http://copd.about.com/od/glossaryofcopdterms/g/activitytoleran.htm 10051301 exercise tolerance decreased AE OAE:0002428 a burn AE that is a type of burn resulted from making contact with heated objects, such as boiling water, steam, hot cooking oil, fire, and hot objects. JX, LW WEB: http://en.wikipedia.org/wiki/Thermal_burn 10053615 thermal burn AE OAE:0002429 a psychiatric disorder AE that describes a wide array of experiences from mild detachment from immediate surroundings to more severe detachment from physical and emotional experience. JX, YH WEB: http://en.wikipedia.org/wiki/Dissociation_%28psychology%29 10013457 dissociation AE OAE:0002431 Mucous membrane disorder AE is a systematic AE that the diseases occur in mucous membrane, which is a lining of mostly endodermal origin. JX, YH WEB: http://en.wikipedia.org/wiki/Mucous_membrane 10028133 mucous membrane disorder AE OAE:0002432 a polyneuropathy AE that arises when the myelin sheaths around nerve cells are damaged. Myelin, the insulating layer of tissue that surrounds nerve cells, helps ensure that signals from the brain are rapidly transmitted to the proper places in the body. When myelin is damaged or destroyed, it can lead to problems with communication between the brain and the body. JX, YH WEB: http://www.healthgrades.com/conditions/chronic-inflammatory-demyelinating-polyneuropathy 10061811 demyelinating polyneuropathy AE OAE:0002433 a syndrome AE that results in increased pressure in a muscle compartment which can lead to nerve damage and impaired blood flow. SJ, YH URL: http://www.nlm.nih.gov/medlineplus/ency/article/001224.htm 10010121 Thick layers of tissue, called fascia, separate groups of muscles in the arms and legs from each other. Inside each layer of fascia is a confined space, called a compartment. The compartment includes the muscle tissue, nerves, and blood vessels. compartment syndrome AE OAE:0002434 Therapeutic response decreased is found among people who take Cialis, especially for people who are male, 60+ old, have been taking the drug for < 1 month, also take medication Aspirin, and have Erection problems. JX, LW WEB: http://www.ehealthme.com/ds/cialis/therapeutic+response+decreased 10043414 therapeutic response decreased OAE:0002436 a seizure AE that resutls in impariment of awareness and involuntary but coordinated and repeated movements. YH, SJ WEB: http://www.webmd.com/epilepsy/guide/types-of-seizures-their-symptoms?page=2 10010145 complex partial seizure AE OAE:0002437 Autoimmune disorder AE is an immune system AE that arises from an abnormal immune response of the body against substances and tissues normally present in the body (autoimmunity). JX, YH WEB: http://en.wikipedia.org/wiki/Autoimmune_disease 10061664 autoimmune disorder AE CTCAE: E11258 NCIt: C2889 OAE:0002438 a hemorrhage AE that has an outcome of bleeding into the pons or mesencephalon. SJ, YH WEB: http://medical-dictionary.thefreedictionary.com/brainstem+hemorrhage 10006146 brain stem hemorrhage AE is often secondary to brainstem distortion due to rapidly expanding intracranail lessions. brainstem hemorrhage AE OAE:0002439 Menstruation irregular AE is a endocrine system AE that is an abnormal variation in length of menstrual cycles in a female. JX, YH, MW irregular menstruation AE WEB: http://en.wikipedia.org/wiki/Irregular_menstruation 10022992 10027339 menstruation irregular AE CTCAE: E13125 NCIt: C35219 OAE:0002440 Generalised tonic-clonic seizure AE is a seizure AE that is a type of generalized seizure that affects the entire brain. Tonic–clonic seizures are the seizure type most commonly associated with epilepsy and seizures in general, though it is a misconception that they are the only type. JX, YH WEB: http://en.wikipedia.org/wiki/Tonic%E2%80%93clonic_seizure 10018100 generalised tonic-clonic seizure AE OAE:0002441 a psychiatric disorder AE that an involuntary flexion or extension of the arms and legs, indicating severe brain injury. JX, YH WEB: http://en.wikipedia.org/wiki/Abnormal_posturing 10036437 posturing AE OAE:0002443 Demyelination AE is a nervous system AE that is any disease of the nervous system in which the myelin sheath of neurons is damaged. JX, YH WEB: http://en.wikipedia.org/wiki/Demyelinating_disease 10012305 demyelination AE OAE:0002444 Gram stain negative AE is a microbiology and serology investigation result abnormal AE that has an outcome of detection of gram-negative bacteria. JX, YH WEB: http://en.wikipedia.org/wiki/Gram-negative_bacteria 10018656 gram stain negative AE OAE:0002445 Red blood cells CSF positive AE is a CSF test result abnormal AE that has an outcome of CSF red blood cells count positive. JX, YH 10038173 red blood cells CSF positive AE OAE:0002446 CSF white blood cell count increased AE is a CSF test result abnormal AE that has an outcome of CSF white blood cell count increased. JX, YH 10053805 CSF white blood cell count increased AE OAE:0002447 Influenza A virus test positive AE is a influenza virus test positive AE that has an outcome of positive result in an influenza A virus test. JX, YH 10070215 influenza A virus test positive AE OAE:0002448 a behavior and neurological test abnormal AE that shows a abnormal result of nerve conduction study (NCS). NCS is a medical diagnostic test commonly used to evaluate the function, especially the ability of electrical conduction, of the motor and sensory nerves of the human body. JX, YH WEB: http://en.wikipedia.org/wiki/Nerve_conduction_study 10029175 nerve conduction study abnormal AE OAE:0002449 Myocardial necrosis AE is a cardiac disorder AE that shows death of the cells of an area of the heart muscle (myocardium) as a result of oxygen deprivation, which in turn is caused by obstruction of the blood supply. JX, YH URL: http://medical-dictionary.thefreedictionary.com/myocardial+necrosis 10028602 myocardial necrosis AE OAE:0002450 a brainstem infarction AE is a stroke AE that occurs when blood cannot flow to the brainstem, when oxygen cannot get to an area of the brain, tissue in that area may be damaged. SJ, YH brainstem stroke WEB: http://en.wikipedia.org/wiki/Brain_stem_stroke_syndrome WEB: http://www.drugs.com/cg/brain-stem-infarction.html 10006147 A person may have vertigo, dizziness and severe imbalance without the hallmark of most strokes – weakness on one side of the body. But dizziness alone is not a sign of stroke. Brain stem stroke can also cause diplopia, slurred speech and decreased level of consciousness. brainstem infarction AE OAE:0002451 a lung disorder AE that occurs when the noises produced by the structures of the lungs during breathing are decreased or absent. SJ, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/007535.htm 10006333 Absent or decreased breath sounds can indicate air or fluid around the lungs, increased thickness of chest wall, over-inflation of part of the lungs, or reduced airflow to part of the lungs. breath sounds decreased AE OAE:0002452 a syndrome AE that is characterised by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. SJ, YH sudden adult death syndrome (SADS) WEB: http://en.wikipedia.org/wiki/Brugada_syndrome 10059027 Brugada syndrome AE OAE:0002453 Buttock pain AE is a pain AE that is a common problem in the butt, it can be due to bursitis, bruising, piriformis syndrome, and shingles,or due to more serious diseases with long-term consequences, such as cancer, arthritis of the sacroiliac joints, and herniated disc with sciatica. SJ, YH, MW Butt Pain WEB:http://www.medicinenet.com/buttock_pain/symptoms.htm 10048677 buttock pain AE CTCAE:E12396 NCIt:C78228 OAE:0002454 a digestive system AE with an outcome of small white calcium lumps forming under the skin that may leak a chalky white fluid. These lumps are formed becuase of too much calcium in the diet. SJ, YH WEB: http://www.sclero.org/medical/symptoms/skin/calcinosis.html 10006938 These most commonly occur on the hands, or near joints such as elbows or knees, although they may appear anywhere. Calcinosis may range from one very tiny deposit, to large (and often painful) clusters. calcinosis AE OAE:0002455 an infection adverse event that caused by a species of the yeast Candida. SJ, YH WEB: http://medical-dictionary.thefreedictionary.com/candidiasis 10007152 This is a common cause of vaginal infections in women. Also, Candida may cause mouth infections in people with reduced immune function, or in patients taking certain antibiotics. Candida can be found in virtually all normal people but causes problems in only a fraction. candidiasis AE OAE:0002456 a hematology investigation result abnormal AE that occurs when the cardaic enzymes and proteins leak out of damaged heart muscle cells, and their levels in the bloodstream rise. SJ, YH URL: http://www.webmd.com/heart-disease/cardiac-enzyme-studies 10007548 cardiac enzymes increased AE may indicate that the heart muscle is injured, such as from a heart attack. cardiac enzymes increased AE OAE:0002457 Acute decompensated heart failure AE is a cardiovascular disorder AE that shows a worsening of the symptoms, typically shortness of breath (dyspnea), edema, and fatigue, in a patient with existing heart disease. SJ, YH Cardiac Failure Acute WEB: http://en.wikipedia.org/wiki/Acute_decompensated_heart_failure 10007556 10064653 acute decompensated heart failure AE OAE:0002459 Cardiac murmur AE is a cardiac disorder AE that is characterised by abnormal sounds during the heartbeat cycle — such as whooshing or swishing — made by turbulent blood in or near the heart. SJ, YH Heart Murmur WEB: http://www.mayoclinic.org/diseases-conditions/heart-murmurs/basics/definition/con-20028706 10007586 cardiac murmur AE OAE:0002460 a behavior and neurological AE that is seen most frequently in schizophrenia, characterized by muscular rigidity and mental stupor, sometimes alternating with great excitement and confusion. YH, SJ WEB: http://dictionary.reference.com/browse/catatonia 10007776 catatonia AE OAE:0002461 a coronary artery disorder AE that results in narrowing of the inner surface of the carotid atery. SJ, YH WEB: http://en.wikipedia.org/wiki/Carotid_artery_stenosis 10007687 carotid artery stenosis AE OAE:0002462 orbital cellulitis AE is a sudden infection of the tissues around the eye, affecting the eyelid, eyebrow, and cheek. SJ, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/001012.htm 10007918 orbital cellulitis AE OAE:0002463 Chronic cholecystitis AE the inflammation of the gallbladder persisting for a prolonged period of time or having repeated attacks. SJ, YH WEB: http://www.healthline.com/health/chronic-cholecystitis#Overview1 10008617 chronic cholecystitis AE OAE:0002464 a brain lesion AE is an area of injury or disease within the brain. SJ, YH WEB: http://www.webmd.com/brain/brain-lesions-causes-symptoms-treatments 10051290 brain lesion AE OAE:0002465 Central venous pressure increased AE is a mesaurement of the pressure of the blood within the superior and inferior vena cava and large veins of the body. Increased pressure can be the result of cardiac failure and congestion of circulation. SJ, YH WEB: http://medical-dictionary.thefreedictionary.com/central+venous+pressure 10007980 central venous pressure increased AE OAE:0002466 a brain disorder AE occurs when the brain is damaged by injury, disease, or health conditions. SJ, YH WEB: http://www.healthline.com/health/brain-disorders#Overview1 10054938 Brain disorders may affect the main areas of your brain that control how you move, think, and behave. Some tumors can constrict the blood vessels in your brain. brain disorder AE OAE:0002467 a cerebral infarction is a type of ischaemic stroke AE that is caused by a blockage in the blood vessels supplying blood to the brain. SJ WEB: http://en.wikipedia.org/wiki/Cerebral_infarction 10008118 cerebral infarction AE OAE:0002468 a nervous system AE that occurs when the cerebrospinal fluid leaks through a defect in the dura or the skull and out through the nose or ear resulting from a tear in the dura. SJ, YH, MW cerebrospinal fluid leakage AE WEB: http://www.hopkinsmedicine.org/neurology_neurosurgery/centers_clinics/brain_tumor/center/skull-base/types/csf-leak.html 10008164 cerebrospinal fluid leak AE CTCAE: E12611 NCIt: C50487 OAE:0002469 a female reproductive system AE that refers to abnormal changes in the cells on the surface of the cervix. The changes are not cancer. But they can lead to cancer of the cervix if not treated. SJ, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/001491.htm 10008263 cervical dysplasia AE OAE:0002470 a bone disorder AE that results in pain and neurological symptoms resulting from any type of condition that irritates a nerve in the cervical spine. SJ, YH WEB: http://www.spine-health.com/conditions/neck-pain/what-cervical-radiculopathy 10008303 cervical radiculopathy AE OAE:0002471 Cervical spinal stenosis AE is a nervous system AE that occurs when the spinal canal in the neck narrows. SJ, YH WEB: http://www.webmd.com/back-pain/tc/cervical-spinal-stenosis-topic-overview 10008313 cervical spinal stenosis AE OAE:0002472 a respiratory AE that results in the inability to breath because something gets stuck in the throat or because the air is not good for breathing SJ, YH WEB: http://www.merriam-webster.com/dictionary/choke 10008589 choking AE OAE:0002473 a musculoskeletal and connective tissue AE that results in tlhe disappearance of articular cartilage as the result of disintegration or dissolution of the cartilage matrix and cells. SJ, YH WEB: http://www.medilexicon.com/medicaldictionary.php?t=17184 10058112 chondrolysis AE OAE:0002474 A joint disorder AE in which the cartilage on the undersurface of the patella deteriorates and softens. SJ, YH WEB: http://www.healthline.com/health/chondromalacia-patella#Overview1 10008729 chondromalacia AE OAE:0002475 an adverse event that occurs after a therapeutic intervention YH, JX therapy adverse event OAE:0002477 a seizure AE that resutls in jerking and muscle rigidity, unusual sensations affecting vision, hearing, smell, taste or touch, and memory or emothional disturbances. YH, SJ WEB: http://www.webmd.com/epilepsy/guide/types-of-seizures-their-symptoms?page=2 10040703 simple partial seizure AE OAE:0002478 chemosis AE is a conjunctival disorder AE that results in swelling of the conjunctiva die to exudation of abnormaly permeable capillaries. SJ, YH conjunctival edema WEB: http://en.wikipedia.org/wiki/Chemosis 10053163 chemosis AE OAE:0002480 a behavior and neurological AE that results in the expression of psychlogical stress in physical ways or a mental or emotional crises that begins to have a physical affect. YH, SJ functional neurological symptom disorder WEB: http://www.mayoclinic.org/diseases-conditions/conversion-disorder/basics/definition/con-20029533 10010893 conversion disorder AE OAE:0002481 a cardiac disorder AE which causes a thickening and loss of elasticity of the coronary arteries, leading to progressive insufficiency of the arteries. SJ, YH arteriosclerotic coronary artery disease coronary artery atherosclerosis WEB: http://ghr.nlm.nih.gov/glossary=coronaryarteriosclerosis 10011076 coronary arteriosclerosis AE OAE:0002482 a cardiac disorder AE which causes a partial or complete blockage of the coronary artery which can lead to heart attack. SJ, YH WEB: http://en.wikipedia.org/wiki/Coronary_occlusion 10011086 coronary occlusion AE OAE:0002483 a cardiac disorder AE which results in inflammation and the buildup of plaque which narrow the coronary arteries. SJ, YH WEB: http://www.mayoclinic.org/diseases-conditions/coronary-artery-disease/basics/definition/con-20032038 10011089 coronary artery disease AE OAE:0002484 An joint disorder AE that results in the noise produced by the rubbing together of bone or irregular cartilage surfaces. YH, SJ WEB: http://medical-dictionary.thefreedictionary.com/crepitation 10011376 crepitation AE OAE:0002485 cryptorchidism AE is a male reproductive system AE which results in the absence of one or both testes from the scrotum. YH, SJ undescended testis WEB: http://en.wikipedia.org/wiki/Cryptorchidism 10011498 cryptorchidism AE OAE:0002486 CSF glucose is proportional to blood glucose levels which correspond to 60-70% of the concentration in blood. SJ, YH hypoglycorrhachia 10011537 decreased CSF glucose AE can be caused by CNS infections, inflammatory conditions, subarachnoid hemorrhage, hypoglycemia, impaired glucose transport, increased CNS glycolytic activity and metastatic carcinoma. decreased CSF glucose AE OAE:0002487 wound culture positive AE is a a test to find and identify germs that may be growing on the skin or in a wound. If something that can cause infection grows, the culture is positive. The type of organisms may be identified with a microscope, chemical tests, or both. SJ, YH WEB: http://www.webmd.com/a-to-z-guides/skin-and-wound-cultures 10011643 wound culture positive AE OAE:0002488 skin cyst AE is a skin AE that occurs when a cluster of cells that have grouped together to form a sac which may contain air, fluids, or semi-solid material. YH, SJ cyst WEB: http://en.wikipedia.org/wiki/Cyst 10011732 skin cyst AE OAE:0002489 conductive hearing loss AE is a hearing loss AE that results from probelms with the ear canal, ear drum, or middle ear and its little bones. SJ, YH sensorineural hearing loss (SNHL) WEB: http://www.hearingloss.org/content/types-causes-and-treatment 10010282 conductive hearing loss AE OAE:0002490 transient hearing loss AE is a hearing loss AE that results from poor ventilation of the middle ear in children. SJ, YH deafness transitory WEB: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3139416/ 10011900 transient hearing loss AE OAE:0002491 a psychiatric disorder AE that results in a persistent false psychotic belief regarding the self or objects outside the self that is maintained despite indisputable evidence to the contrary. SJ, YH WEB: http://www.merriam-webster.com/dictionary/delusion 10012239 delusion AE OAE:0002492 a behavioral and neurological AE that results in long-standing need for the person to be taken care of and a fear of being abandoned or separated from important individuals. SJ, YH WEB: http://psychcentral.com/disorders/dependent-personality-disorder-symptoms/ 10012355 Individuals with Dependent Personality Disorder are often characterized by pessimism and self-doubt, and tend to belittle their abilities and assets. This leads the person to engage in dependent and submissive behaviors that are designed to elicit care-giving behaviors in others. dependent personality disorder AE OAE:0002493 Nervous system AE that results in failure to meet certain developmental milestones, such as sitting, walking, and talking, at the average age. Developmental delay may indicate a problem in development of the central nervous system. SJ, YH WEB: http://medical-dictionary.thefreedictionary.com/developmental+delay 10012559 developmental delay AE OAE:0002494 diabetic ketoacidosis AE is a cardiovascular AE that develops when your body is unable to produce enough insulin and begins to break down fat as an alternate fuel, this process produces a buildup of toxic acids in the bloodstream called ketones. SJ, YH WEB: http://www.mayoclinic.org/diseases-conditions/diabetic-ketoacidosis/basics/definition/con-20026470 10012671 diabetic ketoacidosis AE OAE:0002496 congenital diaphragmatic hernia AE is a congential disorder in which an absent or partially formed diaphragm results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs. This crowding can lead to underdevelopment of the lungs, potentially resulting in life-threatening breathing difficulties that are apparent from birth. SJ, YH WEB: http://medical-dictionary.thefreedictionary.com/aspiration 10061106 congenital diaphragmatic hernia AE OAE:0002497 a paralysis AE that has an outcome of paralysis affecting symmetrical parts of the body. SJ, YH WEB: http://en.wikipedia.org/wiki/Diplegia 10013033 diplegia AE OAE:0002498 cystitis interstitial AE is a cystitis AE that has an outcome of cystitis interstitial, which is a condition that causes discomfort or pain in the bladder and a need to urinate frequently and urgently. KM, YH WEB: http://www.nlm.nih.gov/medlineplus/interstitialcystitis.html 10011796 cystitis interstitial AE OAE:0002499 A disseminated tuberculosis AE is a tuberculosis AE that has an outcome of disseminated tuberculosis, which is a contagious bacterial infection in which TB bacteria has spread from the lungs to other parts of the body through the blood or lymph system. KM, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/000624.htm 10013453 disseminated tuberculosis AE OAE:0002500 Exotosis AE is a bone pain AE that has resulted in a non-neoplastic overgrowth of bone. KM, YH WEB: http://en.wikipedia.org/wiki/Exostosis 10015688 exotosis AE OAE:0002501 An exudative retinopathy AE is an eye AE that shows an outcome of exudative retinopathy marked by masses of white or yellowish exudate in the posterior part of the fundus oculi, with deposits of cholesterol and blood debris from retinal hemorrhage, that leads to destruction of the macula and blindness. KM, YH Coats' disease, Coats' retinitis WEB: http://medical-dictionary.thefreedictionary.com/exudative+retinopathy 10015901 exudative retinopathy AE OAE:0002502 A tendon disorder AE that has an outcome of tendinous which is damage to a tendon at a cellular level. It is thought to be caused by microtears in the connective tissue in and around the tendon, leading to an increase in tendon repair cells. KM, YH WEB: http://en.wikipedia.org/wiki/Tendinosis 10016662 tendinous AE OAE:0002503 A monocyte percentage abnormal AE that results in abnormally high levels of monocytes in the blood. KM, YH WEB: http://en.wikipedia.org/wiki/Monocytosis 10027906 monocytosis AE NCIT: C35147 OAE:0002504 A male reproductive system AE that has an outcome of genital candidiasis, which is a fungal infection due to any types of Candida (types of yeasts). This is a fungal infection of the genital region. KM, YH WEB: http://en.wikipedia.org/wiki/Candidiasis WEB: http://www.cdc.gov/fungal/diseases/candidiasis/genital/ 10018143 genital candidiasis AE OAE:0002505 KM, YH WEB: http://www.webmd.com/pain-management/tc/groin-problems-and-injuries-topic-overview 10018735 A groin pain AE is a pain AE that shows a pain in the groin area. groin pain AE OAE:0002506 A blood disorder AE that has an outcome of the breakdown of red blood cells. KM, YH hemolysis WEB: http://www.nlm.nih.gov/medlineplus/ency/article/002372.htm 10018910 haemolysis AE OAE:0002507 A hepatosplenomegaly AE is a liver inflammation AE that has an outcome of an abnormal enlargement of the liver and spleen. KM, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/imagepages/17215.htm WEB: http://www.medicinenet.com/script/main/art.asp?articlekey=3716 10019847 hepatosplenomegaly AE OAE:0002508 A gastric disorder AE that occurs when part of your stomach pushes upward through your diaphragm. KM, YH WEB: http://www.mayoclinic.org/diseases-conditions/hiatal-hernia/basics/definition/con-20030640 10020028 hiatus hernia AE OAE:0002509 A viral infection AE that is caused by the human immunodeficiency virus. KM, YH 10020161 HIV infection AE NCIT: C3108 OAE:0002510 A hypertonic bladder AE is a digestive system AE that where the bladder-storage function that causes a sudden urge to urinate. SJ, YH irritable bladder overactive bladder WEB: http://healbladder.info/healbladder/hypertonic-bladder WEB: http://www.mayoclinic.org/diseases-conditions/overactive-bladder/basics/definition/con-20027632 10020853 hypertonic bladder AE OAE:0002511 A hypovitaminosis AE is a gustatory system AE which shows an insufficiency of one or more essential vitamins. KM, YH WEB: http://en.wikipedia.org/wiki/Hypovitaminosis 10021135 hypovitaminosis AE OAE:0002512 A gastrointestinal disorder AE that shows the inflammation of the ileum. KM, YH WEB: http://en.wikipedia.org/wiki/Ileitis 10021312 ileitis AE NCIT: C84782 OAE:0002513 A joint pain AE that occurs when there is an abnormal separation in the joint, where two or more bones meet. KM, YH dislocated joint, luxation WEB: http://en.wikipedia.org/wiki/Joint_dislocation 10023204 joint dislocation AE OAE:0002514 A syndrome AE that shows Kawasaki's disease, a vasculitis characterized by inflammation of the arteries, particularly the coronary arteries. The vasculitis may lead to aneurysm formation and possibly, heart attacks. It affects young children who usually present with persistent high fever, redness of the mucous membranes of the mouth, redness of the palms and soles, skin rashes, lymphadenitis, and joint pain and swelling. KM, YH Mucocutaneous Lymph Node Syndrome WEB: http://en.wikipedia.org/wiki/Kawasaki_disease 10023320 kawasaki disease AE NCIT: C34825 OAE:0002515 An abscess AE where a bacterial, parasitic, or fungal abscess that develops in the liver. It is usually the result of an abdominal infection, trauma, or surgery in the right upper quadrant. Signs and symptoms include abdominal pain, nausea, vomiting, and fever. KM, YH WEB: http://en.wikipedia.org/wiki/Liver_abscess 10024652 liver abscess AE NCIT: C99089 OAE:0002516 A blood disorder AE that the body's blood supply will stop moving after the heart has stopped pumping it around the inside of the deceased. KM, YH WEB: http://www.exploreforensics.co.uk/rigor-mortis-and-lividity.html 10024728 lividity AE OAE:0002517 A lymphangitis AE is an inflammation AE that has an infection of the lymph vessels (channels). KM, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/007296.htm 10025226 lymphangitis AE OAE:0002518 An infection adverse event that results in malaria, a protozoan infection caused by the genus Plasmodium. There are four species of Plasmodium that can infect humans: Plasmodium falciparum, vivax, ovale, and malariae. It is transmitted to humans by infected mosquitoes. Signs and symptoms include paroxysmal high fever, sweating, chills, and anemia. KM, YH WEB: http://en.wikipedia.org/wiki/Malaria 10025487 malaria AE NCIT: C34797 OAE:0002519 A metabolic disoder AE where there is increased acidity in the blood secondary to acid base imbalance. Causes include diabetes, kidney failure and shock. KM, YH Acidosis WEB: http://www.nlm.nih.gov/medlineplus/ency/article/000335.htm 10027417 metabolic acidosis AE NCIT: C28228 OAE:0002520 An abnormal stool AE that has an outcome of a significant amount of mucus in the stool. The mucus is accompanied by diarrhea, pain or blood may signify an intestinal condition such as infection or inflammation. Increased amounts of mucus in the stool can also occur with cancers of the colon or rectum or with bowel obstruction. KM, YH WEB: http://www.healthgrades.com/symptoms/mucus-in-stool 10028140 mucous stool AE OAE:0002521 A muscle spasm AE that has an outcome of tight or stiff muscles and an inability to control those muscles. KM, YH, MW, MW spasticity AE WEB: http://www.webmd.com/pain-management/pain-management-spasticity 10028335 10041416 muscle spasticity AE CTCAE: E12820 NCIt: C79750 OAE:0002522 A respiratory distress AE that has an outcome of a newborn dyspnea (i.e., impaired breathing) with cyanosis, most frequently occurring in premature infants, children of diabetic mothers and infants delivered by cesarean section, and sometimes with no predisposing cause. KM, YH Newborn Respiratory Distress Syndrome WEB: http://www.nlm.nih.gov/medlineplus/ency/article/001563.htm 10001052 neonatal respiratory distress AE NCIT: C27560 OAE:0002523 A neutrophil count increased AE that has an outcome of an abnormally high level of neutrophils in the blood. KM, YH WEB: http://en.wikipedia.org/wiki/Neutrophilia 10029379 neutrophilia AE NCIT: C35164 OAE:0002524 A male reproductive system AE that results in an inflammation of one or both testes due to viral or bacterial infections. Signs and symptoms include enlargement or tenderness of the affected testis, inguinal lymphadenopathy, blood in the semen, and pain during urination, intercourse, or ejaculation. KM, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/001280.htm 10031064 orchitis AE NCIT: C97145 OAE:0002525 an inflammation AE that occurs in a bone. KM, YH Osteitis fibrosa WEB: http://www.nlm.nih.gov/medlineplus/ency/article/001252.htm 10031149 osteitis AE OAE:0002526 A bone disorder AE that has an dissolution of bone, especially the removal or loss of the calcium of bone. KM, YH WEB: http://en.wikipedia.org/wiki/Osteolysis 10031248 osteolysis AE NCIT: C50681 OAE:0002527 An arrhythmia AE that has an outcome of palpitations, an abnormality of heartbeat characterized by simultaneous awareness of one’s pulse and discomfort. KM, YH WEB: http://en.wikipedia.org/wiki/Palpitations 10033557 palpitations AE CTCAE: E10163 NCIt: C37999 OAE:0002528 A skin AE that shows a solid, raised spot on the skin that is up to 0.5 centimeter wide, which is a type of skin lesion. KM, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/003233.htm 10033733 papule AE OAE:0002529 A parotid gladn enlargement AE that has an outcome of parotitis, the inflammation of one or more of the parotid glands. KM, YH WEB: http://emedicine.medscape.com/article/882461-overview WEB: http://www.nlm.nih.gov/medlineplus/ency/article/001041.htm 10034038 parotitis AE OAE:0002530 A male reproductive system AE that has an disorder in a penis, including priapism, Peyronie's disease, balanitis, phimosis, paraphimosis, and penile cancer. KM, YH WEB: http://www.medicinenet.com/penis_disorders/article.htm 10034336 penis disorder AE OAE:0002531 An abdominal AE that shows an inflammation of the peritoneum, the thin tissue that lines the inner wall of the abdomen and covers most of the abdominal organs. KM, YH WEB: http://en.wikipedia.org/wiki/Peritonitis 10034674 peritonitis AE NCIT: C26849 OAE:0002533 An arthritis AE that has an outcome of polyarthritis, which includes any type of arthritis that involves 5 or more joints simultaneously. KM, YH WEB: http://en.wikipedia.org/wiki/Polyarthritis 10036030 polyarthritis AE OAE:0002534 A male reproductive system AE that affects prostatic gland in the male reproductive system. KM, YH WEB: http://www.britannica.com/EBchecked/topic/479519/prostatic-disorder 10036956 prostatic disorder AE OAE:0002535 A tumor AE that shows a benign disorder of lymphoid cells or histiocytes that produces clinical features of a malignant lymphoma. KM, YH WEB: http://medical-dictionary.thefreedictionary.com/pseudolymphoma 10037108 pseudo lymphoma AE OAE:0002536 A skin AE that shows a pyogenic skin disease. These include superficial bacterial infections such as impetigo, impetigo contagiosa, ecthyma, folliculitis, Bockhart's impetigo, furuncle, carbuncle, tropical ulcer, etc. KM, YH WEB: http://en.wikipedia.org/wiki/Pyoderma 10037632 pyoderma AE OAE:0002537 A urine abnormality AE that shows the presence of white blood cells or pus in the urine, usually a sign of urinary tract infection. KM, YH WEB: http://en.wikipedia.org/wiki/Pyuria WEB: http://medical-dictionary.thefreedictionary.com/pyuria 10037686 pyuria AE OAE:0002538 a blood sodium abnormal AE that is characterized by an abnormally high level of sodium in the blood YH, MW hypernaetremia WEB: http://emedicine.medscape.com/article/241094-overview 10020679 10020680 hypernatremia AE CTCAE: E12293 HPO: HP_0003228 NCIt: C37970 SIDER: C0595878 OAE:0002539 A rash AE that shows a rash like measles. The rash consists of macular lesions that are red and usually 2–10 mm in diameter but may be confluent in places. KM, YH measles-like maculopapular rash AE WEB: http://en.wikipedia.org/wiki/Morbilliform WEB: http://www.wisegeek.com/what-is-a-morbilliform-rash.htm 10037870 morbilliform rash AE OAE:0002540 A rash AE that shows a raised, blistery rash. KM, YH WEB: http://www.medicinenet.com/script/main/art.asp?articlekey=11955 10037898 vesicular rash AE OAE:0002541 A red blood cell count increased AE that has an increased count of reticulocytes in the blood. Reticulocytes are slightly immature red blood cells. KM, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/003637.htm 10038792 reticulocyte count increased AE OAE:0002542 a behavior and neurological AE that results in impaired or inhibited ego functioning in which the ability to process reality-based information is diminished and disordered. SJ, YH WEB: http://medical-dictionary.thefreedictionary.com/acute+psychosis 10001022 acute psychosis AE OAE:0002543 An eye AE that shows an abnormal blood vessel development in the retina of the eye and it occurs in infants that are born too early. KM, YH Terry syndrome retrolental fibroplasia retrolental fibroplasia (RLF) WEB: http://en.wikipedia.org/wiki/Retinopathy_of_prematurity WEB: http://www.nlm.nih.gov/medlineplus/ency/article/001618.htm 10038933 retinopathy of prematurity AE OAE:0002544 A skin AE that results in a scar, a mark left on the skin. KM, YH WEB: http://en.wikipedia.org/wiki/Scar 10039580 scar AE NCIT: C34483 OAE:0002545 A skin AE that has an outcome of a localized or systemic chronic and progressive autoimmune disorder characterized by thickening of the skin and the connective tissues. KM, YH WEB: http://en.wikipedia.org/wiki/Scleroderma 10039710 Localized scleroderma affects only the skin. Systemic scleroderma affects internal organs, including the heart, lungs, gastrointestinal tract, and kidneys. scleroderma AE NCIT: C26746 OAE:0002546 A male reproductive system AE that has an outcome of an abnormal enlargement of the scrotum, the sac surrounding the testicles. KM, YH scrotal edema scrotal swelling WEB: http://www.nlm.nih.gov/medlineplus/ency/article/003161.htm 10039755 scrotal oedema AE OAE:0002547 A skin AE that results in the degeneration and thinning of the epidermis and dermis. KM, YH, MW atrophy of the skin WEB: http://www.wisegeek.com/what-is-skin-atrophy.htm 10040799 skin atrophy AE CTCAE:E13714 NCIT: C35163 NCIt:C35163 OAE:0002548 A skin discoloration AE that shows the lightening of the skin, or loss of pigment. KM, YH Depigmentation WEB: http://en.wikipedia.org/wiki/Depigmentation 皮肤脱色 10040825 skin depigmentation AE OAE:0002549 A skin discoloration AE that shows abnormal lightening of skin due to decreased melanin production or deposition. KM, YH, MW Hypopigmentation, Pigment Dilution WEB: http://en.wikipedia.org/wiki/Hypopigmentation 10040868 Vitiligo, albinism, and leukoderma are among the disorders that are associated with skin hypopigmentation. skin hypopigmentation AE CTCAE:E13721 NCIt:C78610 http://en.wikipedia.org/wiki/Hypopigmentation OAE:0002550 An immune system disorder AE that has an disorder in spleen, the largest organ in the lymphatic system. KM, YH splenic diseases WEB: http://en.wikipedia.org/wiki/Splenic_disease WEB: http://www.livescience.com/44725-spleen.html 10041633 spleen disorder AE CTCAE: E10056 NCIt: C35823 OAE:0002551 a muscle AE that shows the absence or loss of control of voluntary muscle movements. SJ, YH URL: http://medical-dictionary.thefreedictionary.com/akinesia 10001541 akinesia AE OAE:0002552 a seizure AE that shows a brief episode of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. JX, YH epilepsy WEB: http://en.wikipedia.org/wiki/Epileptic_seizure 癫痫 epileptic seizure AE OAE:0002553 a cranial neuropathy AE which shows an damage or abnormality to the nerves in the eyes. RR, YH WEB: http://www.allaboutvision.com/conditions/optic-neuritis.htm 10061323 optic neuropathy AE OAE:0002554 an optic neuropathy AE characterized by optic disc swelling, peripapillary and macular hard exudates, and vitreous cells. RR, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/6466175 10060701 neuroretinitis AE OAE:0002555 an optic neuropathy AE characterized by vision loss, optic disc swelling, flame hemorrhages, and cotton-wool exudates. It occurs when blood flow is interrupted to the front (anterior) part of the optic nerve (also called optic nerve head). RR, YH AION WEB: http://emedicine.medscape.com/article/1216891-overview WEB: http://www.geteyesmart.org/eyesmart/diseases/ischemic-optic-neuropathy/ 10068250 anterior ischemic optic neuropathy AE OAE:0002556 a type of anterior ischemic optic neuropathy AE that presents primarily with vision loss, especially upon wakening, and sectorial disc edema. RR, YH WEB: http://emedicine.medscape.com/article/1216891-clinical#a0217 10068249 non-arteritic anterior ischemic optic neuropathy AE OAE:0002557 a peripheral neuropathy AE that shows a combination of axonal and demyelinating neuropathy. RR, YH WEB: http://www.aafp.org/afp/2010/0401/p887.html mixed neuropathy AE OAE:0002558 a peripheral sensory neuropathy AE that shows neuropathy in many sensory nerves at one time RR, YH WEB: http://www.merckmanuals.com/home/brain_spinal_cord_and_nerve_disorders/peripheral_nerve_disorders/polyneuropathy.html sensory peripheral polyneuropathy AE OAE:0002559 a peripheral neuropathy AE that results from the loss of the myelin sheath on peripheral nerves roughly evenly distributed on both sides of the body RR, YH peripheral demyelinating polyneuropathy AE OAE:0002560 a neuropathy AE that shows nerve damage and occurs in a patient with diabetes RR, YH WEB: http://www.mayoclinic.org/diseases-conditions/diabetic-neuropathy/basics/definition/con-20033336 10012680 diabetic neuropathy AE OAE:0002561 a nervous system AE that is an umbrella term referring to conditions relating to the nervous system, including loss of sensation and paralysis RR, YH WEB: http://en.wikipedia.org/wiki/Functional_neurological_deficit neurological deficit AE OAE:0002562 An abscess AE that is caused by an Staphylococcus aureus infection. KM, YH abscess http://medical-dictionary.thefreedictionary.com/staphylococcal+abscess 10041917 staphylococcal abscess AE OAE:0002563 An eye AE that results in an intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object. Strabismus is caused by an imbalance in the extraocular muscles which control the positioning of the eyes. KM, YH cross-eyed heterotropia wall-eyed WEB: http://en.wikipedia.org/wiki/Strabismus 10042159 strabismus AE OAE:0002564 A vein discoloration AE that has an outcome of local dilatation of small vessels resulting in red discoloration of the skin or mucous membranes. KM, YH, MW http://en.wikipedia.org/wiki/Telangiectasia 10043189 telangiectasia AE CTCAE:E13740 NCIT: C28194 NCIt:C28194 OAE:0002565 A muscle spasm AE that results in the lack of ability to open the mouth fully due to decreased range of motion of the muscles of mastication. KM, YH, MW WEB: http://www.medicinenet.com/script/main/art.asp?articlekey=40739 10044684 Trismus is a symptom of tetanus. trismus AE CTCAE:E12541 NCIt: C78651 OAE:0002566 A bacterial infection AE with an outcome of thypoid fever, a bacterial infectious disorder caused by the Salmonella typhi bacteria. KM, YH tyhpoid WEB: http://www.webmd.com/a-to-z-guides/typhoid-fever 10045275 Typhoid fever is often contracted by consumption of food or drink contaminated with Salmonella typhi. typhoid fever AE NCIT: C35089 OAE:0002567 a urinary system AE that results in the inflammation (swelling and irritation) of the urethra. KM, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/000439.htm 10046480 urethritis AE OAE:0002568 a skin discoloration AE which shows a chronic skin disease characterized by portions of the skin losing their pigment. KM, YH WEB: http://en.wikipedia.org/wiki/Vitiligo 白癫风；白驳风；白斑 10047642 vitiligo AE NCIT: C26915 OAE:0002569 an injury AE that displays a type of injury to flesh or skin caused by heat, electricity, chemicals, friction, or radiation. YH WEB: http://en.wikipedia.org/wiki/Burn 10006634 burn AE CTCAE: E11669 NCIt: C34441 OAE:0002570 a hematopoietic system AE which has a decreased erythrocyte sedimentation rate (ESR). EST is the rate at which red blood cells sediment in a period of one hour. KM, YH ESR erythrocyte sedimentation rate red blood cell sedimentation rate decreased AE Westergren ESR decreased AE http://en.wikipedia.org/wiki/Erythrocyte_sedimentation_rate 10049188 sedimentation rate decreased AE OAE:0002571 a skin AE that has decreased skin turgor which is the skin's ability to change shape and return to normal (elasticity). KM, YH WEB: http://www.nlm.nih.gov/medlineplus/ency/article/003281.htm 10049428 skin turgor decreased AE OAE:0002572 A tumor AE that shows a tumor occuring in the gastrointestinal tract. KM, YH WEB: http://ghr.nlm.nih.gov/condition/gastrointestinal-stromal-tumor 10051066 gastrointestinal stromal tumour AE OAE:0002573 A bacterial infection AE that has the presence of pus in a bacterial infection. KM, YH WEB: http://dermatology.about.com/library/bldeffluctuance.htm 10051723 fluctuance AE OAE:0002574 A bacterial infection AE which is caused by Acinetobacter. KM, YH WEB: http://www.cdc.gov/HAI/organisms/acinetobacter.html 10051894 Outbreaks of Acinetobacter infections typically occur in intensive care units and healthcare settings housing very ill patients. Acinetobacter infections rarely occur outside of healthcare settings. acinetobacter infection AE OAE:0002575 an injury AE that breaks the skin or other body tissues. KM, YH WEB: http://www.nlm.nih.gov/medlineplus/woundsandinjuries.html 10052428 wound AE OAE:0002576 a tuberculosis AE which is an invasion of the peritoneum by Mycobacterium tuberculosis. KM, YH WEB: http://www.ncbi.nlm.nih.gov/pubmed/21215540 10053583 peritoneal tuberculosis AE OAE:0002577 a tumor AE that shows a benigh tumor of vascular origin usually seen in early childhood. YH WEB: http://radiopaedia.org/articles/haemangioma haemangioma AE OAE:0002578 a vascular disorder AE that has an outcome of the blockage of a blood vessel, usually with a clot. KM, YH WEB: http://en.wikipedia.org/wiki/Vascular_occlusion 10053648 vascular occlusion AE OAE:0002579 a tuberculosis AE that shows an tuberculosis of the joints. KM, YH WEB: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1577591/ 10056367 joint tuberculosis AE OAE:0002580 an arrhythmia AE that shows abnormal heart rhythms that originate in the bottom chambers of the heart called the ventricles. LW, YH WEB: http://my.clevelandclinic.org/services/heart/departments-centers/ventricular-arrhythmia-center 室性心律失常 10047281 ventricular arrhythmia AE CTCAE: E10230 NCIt: C26924 OAE:0002581 A bacterial infection AE that is caused by Salmonella. KM, YH WEB: http://en.wikipedia.org/wiki/Salmonella 10058878 Salmonella AE OAE:0002582 a blood potassium abnormal AE that has a lab test outcome of abnormally lower than normal amount of potassium in the blood YH, MW hypokalemia AE hypopotassaemia AE hypopotassemia AE potassium depletion AE WEB: http://en.wikipedia.org/wiki/Hypokalemia WEB: http://medical-dictionary.thefreedictionary.com/hyperkalemia WEB: http://www.emedicinehealth.com/low_potassium/article_em.htm 血钾过少 10021015 10021018 hypokalaemia AE CTCAE: E12327 NCIt: C37974 OAE:0002583 a necrosis AE, tumor necrosis factor (TNF, tumor necrosis factor alpha, TNFα, cachexin, or cachectin) is a cell signaling protein (adipokine) involved in systemic inflammation and is one of the cytokines that make up the acute phase reaction. KM, YH WEB: http://en.wikipedia.org/wiki/Tumor_necrosis_factor_alpha 10059981 alpha tumour necrosis factor AE OAE:0002584 a tumor AE that that is a benign or malignant neoplasm involving the oral cavity and/or the lips. KM, YH WEB: http://www.nlm.nih.gov/medlineplus/oralcancer.html 10061325 oral neoplasm AE NCIT: C8989 OAE:0002585 a cardiac disorder AE that can present clinically as acute pericarditis, pericardial effusion, cardiac tamponade, and constrictive pericarditis. KM, YH WEB: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2878263/ 10061338 pericardial disease AE OAE:0002586 a tumor AE that shows a benign or malignant neoplasm that affects the peritoneal cavity. KM, YH WEB: http://www.webmd.com/cancer/peritoneal-cancer-prognosis-symptoms-treatments 10061344 Representative examples of benign neoplasms include adenomatoid tumor and disseminated peritoneal leiomyomatosis. Representative examples of malignant neoplasms include primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma. peritoneal neoplasm AE NCIT: C3322 OAE:0002587 an inflammation AE that shows the formation or presence of pus. KM, YH MedDRA: 10061926 WEB: http://medical-dictionary.thefreedictionary.com/purulence purulence AE OAE:0002588 a bacterial infection AE with bacteria of the genus Mycobacterium. KM, YH Mycobacterium Infection WEB: http://www.nlm.nih.gov/medlineplus/mycobacterialinfections.html 10062207 mycobacterial infection AE NCIT: C26831 OAE:0002589 a tumor AE that shows the most common benign spinal neoplasm, often located in the thoracic and lumbar spine, with a peak incidence of occurrence in the fourth to sixth decades. KM, YH WEB: http://radiopaedia.org/articles/vertebral-haemangioma 10065275 spinal haemangioma AE OAE:0002590 a syndrome AE that reuslts in an autosomal recessive combined immunodeficiency syndrome caused by mutations in the RAG-1 and RAG-2 genes. It is characterized by the presence of alopecia, erythroderma, desquamation, lymphadenopathy, and chronic diarrhea. YH: This is also a genetic AE. We will later find a way to link to there. KM, YH WEB: http://en.wikipedia.org/wiki/Omenn_syndrome 10069097 Omenn syndrome AE NCIT: C61240 OAE:0002591 a immune system AE that results in a state in which the immune system's ability to fight infectious disease is compromised or entirely absent. KM, YH WEB: http://en.wikipedia.org/wiki/Immunodeficiency immunodeficiency AE OAE:0002592 a hepatitis AE that resutls in a hepatitis C viral infection. KM, YH HCV WEB: http://en.wikipedia.org/wiki/Hepatitis_C_virus hepatitis C AE NCIT: C14312 OAE:0002593 a blood phosphorus abnormal AE that shows an abnormal blood phosphate level EB 10054823 blood phosphate abnormal AE OAE:0002594 a hematology investigation result abnormal AE that results in an abnormal level of albumin in the blood EB 10005800 blood albumin abnormal AE OAE:0002595 an electrolyte blood lab test abnormal AE that results in an abnormal level of sodium in the blood YH, MW blood carbon dioxide abnormal AE' OAE:0002596 a blood carbon dioxide abnormal AE in which the levels of carbon dioxide in the blood is abnormally high DJ, SS, YH, MW CO2 retention AE hypercapnea AE hypercarbia AE WEB: https://en.wikipedia.org/wiki/Hypercapnia 10020591 hypercapnia AE UMLS CUI: C0020440 OAE:0002599 a rash AE that shows follicular eruptions characterized by papules and pustules resembling acne. YH, MW acneiform eruption AE rash acneiform AE WEB: http://en.wikipedia.org/wiki/Acne_vulgaris WEB: http://en.wikipedia.org/wiki/Acneiform_eruption 10037847 The term "acneiform", literally, refers to an appearance similar to acne. Acne vulgaris (or simply acne) is a long-term skin condition characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring. acneiform rash AE CTCAE: E13694 NCIt: C35277 OAE:0002600 A rash AE that is characterized by an eruption consisting of papules (a small, raised pimple) and pustules (a small pus filled blister), typically appearing in face, scalp, and upper chest and back. YH WEB: http://www.medaphile.com/medical-dictionary/papulopustular-rash 10069138 Unlike acne, papulopustular rash does not present with whiteheads or blackheads, and can be symptomatic, with itchy or tender lesions. papulopustular rash AE CTCAE: E11491 NCIt: C80119 OAE:0002601 an neuropathy AE that occurs when any of the twelve cranial nerves (nerves that exit from the brain directly) are damaged. MW, YH WEB: http://www.emedicinehealth.com/neuropathy/article_em.htm#types_of_neuropathy 10061096 cranial neuropathy AE OAE:0002602 a cranial neuropathy AE which shows an damage or abnormality to the nerve that carries signals from the inner ear to the brain and is responsible for hearing. MW, YH WEB: http://www.emedicinehealth.com/neuropathy/article_em.htm#types_of_neuropathy auditory neuropathy AE OAE:0002603 a cognitive disorder AE that shows conspicuous changes in cognitive functions. MW, YH 10009845 cognitive disturbance AE CTCAE: E12617 NCIt: C27101 OAE:0002604 an neuropathy AE that is restricted to one nerve or group of nerves, or one area of the body MW, YH WEB: http://www.emedicinehealth.com/neuropathy/article_em.htm#types_of_neuropathy focal neuropathy AE OAE:0002605 a vascular disorder AE that form in a blood vessel a clot (thrombus) that breaks loose and is carried by the blood stream to plug another vessel. MW, YH thromboembolic event AE WEB: http://www.medicinenet.com/script/main/art.asp?articlekey=25032 10043565 thromboembolism AE CTCAE: E13825 OAE:0002606 an injury AE that occurs in the cardiovascular system YH 10007654 cardiovascular injury AE UMLS CUI: C0560570 OAE:0002607 a cardiovascular injury AE that occurs in a heart. YH 10061200 heart injury AE UMLS CUI: C0018805 OAE:0002608 a heart injury AE that shows a laceration or tearing of the myoardium, which is the muscular tissue of the heart. YH WEB: https://en.wikipedia.org/wiki/Myocardial_rupture 10028604 myocardial rupture AE UMLS CUI: C0018813 OAE:0002609 a cardiomyopathy AE that is characterized by a weekened heart caused by the effects of high blood pressure. YH WEB: http://www.freemd.com/hypertensive-cardiomyopathy/overview.htm 10058222 hypertensive cardiomyopathy AE UMLS CUI: C1144799 OAE:0002610 A hypertrophic cardiomyopathy AE where the distortion of normal heart anatomy causes an obstruction of the outflow of blood from the left ventricle of the heart YH ASH HOCM IHSS asymmetric septal hypertrophy idiopathic hypertrophic subaortic stenosis WEB: https://en.wikipedia.org/wiki/Hypertrophic_cardiomyopathy#Obstructive_and_non-obstructive 10020204 hypertrophic obstructive cardiomyopathy AE UMLS CUI: C0007194 OAE:0002611 A hypertrophic cardiomyopathy AE where the distortion of normal heart anatomy does not cause an obstruction of the outflow of blood from the left ventricle of the heart YH Yamaguchi Hypertrophy Yamaguchi Syndrome apical hypertrophic cardiomyopathy idiopathic hypertrophic subaortic stenosis non-obstructive cardiomyopathy WEB: http://medical-dictionary.thefreedictionary.com/cardiomyopathy WEB: https://en.wikipedia.org/wiki/Hypertrophic_cardiomyopathy#Obstructive_and_non-obstructive hypertrophic non-obstructive cardiomyopathy AE OAE:0002612 a cardiovascular investigation result abnormal AE that results in an abnormal result on a test used to evaluate heart function YH WEB: http://www.drsinatra.com/heart-function-tests-to-assess-heart-disease-risk/ WEB: https://en.wikipedia.org/wiki/Cardiology_diagnostic_tests_and_procedures 10058479 cardiac function test abnormal AE UMLS CUI: C0438177 OAE:0002613 a cardiac disorder AE that results in multiple cardiac defects. YH WEB: https://en.wikipedia.org/wiki/Cardiology_diagnostic_tests_and_procedures 10058479 multiple cardiac defects AE UMLS CUI: C0438177 OAE:0002614 an injury and procedural complication AE that results in a blockage of a device. YH 10064685 device occlusion AE UMLS CUI: C1608397 OAE:0002617 a procedural complication AE that occurs after the usage of a medical device. YH device AE device adverse event medical device adverse event OAE:0002618 a skin ulceration AE that has a combined area of ulcers <1 cm and nonblanchable erythema of intact skin with associated warmth or edema MW, YH WEB: http://www.nhs.uk/Conditions/Pressure-ulcers/Pages/Symptoms.aspx Grade 1 skin ulceration AE CTCAE: E13731 OAE:0002619 a skin ulceration AE that has a combined area of ulcers 1 - 2 cm and partial thickness skin loss involving skin or subcutaneous fat MW, YH WEB: http://www.nhs.uk/Conditions/Pressure-ulcers/Pages/Symptoms.aspx Grade 2 skin ulceration AE CTCAE: E13732 OAE:0002620 a skin ulceration AE that has a combined area of ulcers >2 cm and full-thickness skin loss involving damage to or necrosis of subcutaneous tissue that may extend down to fascia MW, YH WEB: http://www.nhs.uk/Conditions/Pressure-ulcers/Pages/Symptoms.aspx Grade 3 skin ulceration AE CTCAE: E13733 OAE:0002621 a skin ulceration AE that has any size ulcer with extensive destruction, tissue necrosis, or damage to muscle, bone, or supporting structures with or without full thickness skin loss MW, YH WEB: http://www.nhs.uk/Conditions/Pressure-ulcers/Pages/Symptoms.aspx Grade 4 skin ulceration AE CTCAE: E13734 OAE:0002622 A dysesthesia AE that shows an uncomfortable persistent sensation in the area of the laryngopharynx. MW, YH 10062667 Laryngopharyngeal dysesthesia AE CTCAE: E13433 NCIt: C78414 OAE:0002623 a hospitalization AE that leads to an intial hospitalization. YH, JX WEB: http://www.fda.gov/Safety/MedWatch/HowToReport/ucm053087.htm initial hospitalization AE OAE:0002624 a hospitalization AE that leads to a prolonged hospitalization. YH, JX WEB: http://www.fda.gov/Safety/MedWatch/HowToReport/ucm053087.htm prolonged hospitalization AE OAE:0002625 an adverse event that occurs locally in a certain location. This is different from the systematci adverse event that occurs throughout the systemtic circulation. YH, JX URL: https://en.wikipedia.org/wiki/Adverse_drug_reaction local AE OAE:0002627 a nervous system AE that occurs in the central nervous system JX, YH central nervous system AE OAE:0002628 a nervous system AE that occurs in the area of meninges JX, YH WEB: https://en.wikipedia.org/wiki/Meninges meninges AE OAE:0002629 an inflammation AE which has an outcome of brain inflammation, which is local accumulation of fluid, plasma proteins, and leukocytes in the brain According to the Vaccine Adverse Event Reporting System (VAERS), 'encephalitis' is an adverse event that was mentioned in 480 VAERS reports (0.4%) during1991-2001 (Reference: PMID: 12825543). meninges inflammation AE MP: MP_0001847 OAE:0002630 a mental disorder that has false personal beliefs held contrary to reality, despite contradictory evidence and common sense. MW, YH 10012260 delusions AE CTCAE: E12904 NCIt: C26741 OAE:0002631 an inflammation AE that has an inflammation involving the larynx. MW, YH 10065735 laryngeal inflammation AE CTCAE: E13411 NCIt: C26811 OAE:0002632 a male reproductive system AE that has involvement of the testis. MW, YH 10043306 testicular disorder AE CTCAE: E13215 NCIt: C26890 OAE:0002633 an urinary system AE that has urination at short intervals. MW, YH 10046539 urinary frequency AE CTCAE: E13039 NCIt: C26906 OAE:0002634 a reproduction system inflammation AE that has inflammation involving the vagina. Symptoms may include redness, edema, marked discomfort and an increase in vaginal discharge. MW, YH 10046916 vaginal inflammation AE CTCAE: E13270 NCIt: C26911 OAE:0002635 a cranial neuropathy AE that has involvement of the trigeminal nerve (fifth cranial nerve). MW, YH 10060890 trigeminal nerve disorder AE CTCAE: E12841 NCIt: C26952 OAE:0002636 cranial neuropathy AE that has involvement of the accessory nerve (eleventh cranial nerve). MW, YH 10060929 accessory nerve disorder AE CTCAE: E12573 NCIt: C26953 OAE:0002637 a cranial neuropathy AE that has involvement of the hypoglossal nerve (twelfth cranial nerve). MW, YH 10061212 hypoglossal nerve disorder AE CTCAE: E12692 NCIt: C26954 OAE:0002638 a hemorrhage AE that has bleeding from the pharynx. MW, YH 10055315 pharyngeal hemorrhage AE CTCAE: E13460 NCIt: C26986 OAE:0002639 a distal neuropathy AE that has regional paresthesia of the brachial plexus, marked discomfort and muscle weakness, and limited movement in the arm or hand. MW, YH 10065417 brachial plexopathy AE CTCAE: E12601 NCIt: C27194 OAE:0002640 a cranial neuropathy AE that has involvement of the acoustic nerve (eighth cranial nerve) MW, YH 10000521 acoustic nerve disorder NOS AE CTCAE: E12577 NCIt: C27207 OAE:0002641 a cranial neuropathy AE that has involvement of the olfactory nerve (first cranial nerve). MW, YH 10056388 olfactory nerve disorder AE CTCAE: E12755 NCIt: C27210 OAE:0002642 a cranial neuropathy AE that has involvement of the glossopharyngeal nerve (ninth cranial nerve). MW, YH 10061185 glossopharyngeal nerve disorder AE CTCAE: E12672 NCIt: C27211 OAE:0002643 a cranial neuropathy AE that has involvement of the vagus nerve (tenth cranial nerve). MW, YH 10061403 vagus nerve disorder AE CTCAE: E12845 NCIt: C27591 OAE:0002644 a cranial neuropathy AE that has involvement of the abducens nerve (sixth cranial nerve). MW, YH 10053662 abducens nerve disorder AE CTCAE: E12569 NCIt: C27593 OAE:0002645 a cranial neuropathy AE that has involvement of the facial nerve (seventh cranial nerve). MW, YH 10061457 facial nerve disorder AE CTCAE: E12668 NCIt: C27594 OAE:0002646 a cranial neuropathy AE that has involvement of the oculomotor nerve (third cranial nerve). MW, YH 10053661 oculomotor nerve disorder AE CTCAE: E12751 NCIt: C27598 OAE:0002647 a sensory neuropathy AE that has distortion of sensory perception, resulting in an abnormal and unpleasant sensation. MW, YH 10062872 dysesthesia AE CTCAE: E12639 NCIt: C28246 OAE:0002648 a pain AE that has painful or difficult coitus. MW, YH 10013941 dyspareunia AE CTCAE: E13081 NCIt: C2997 OAE:0002649 a bone disorder AE that has non-neoplastic overgrowth of bone. MW, YH 10015688 exostosis AE CTCAE: E12404 NCIt: C3029 OAE:0002650 an endocrine system AE that has excessive development of the breasts in males. MW, YH 10018801 gynecomastia AE CTCAE: E13115 NCIt: C3073 OAE:0002651 a brain edema AE that has an abnormal increase of cerebrospinal fluid in the ventricles of the brain. MW, YH 10020508 hydrocephalus AE CTCAE: E12682 NCIt: C3111 OAE:0002652 an edema AE that has excessive fluid collection in tissues that causes swelling. MW, YH 10025233 lymphedema AE CTCAE: E13802 NCIt: C3207 OAE:0002653 a menstrual disorder AE that has the permanent cessation of menses, usually defined by 12 consecutive months of amenorrhea in a woman over 45 years of age. MW, YH 10027308 menopause AE CTCAE: E13750 NCIt: C3231 OAE:0002654 a physical examination result abnormal AE that is having a high amount of body fat. MW, YH 10029883 obesity AE CTCAE: E12361 NCIt: C3283 OAE:0002655 a lung inflammation AE that has progressive and life-threatening pulmonary distress in the absence of an underlying pulmonary condition, usually following major trauma or surgery. MW, YH 10001409 adult respiratory distress syndrome AE CTCAE: E13299 NCIt: C3353 OAE:0002656 a cardiovascular AE that has obstruction of the blood flow in the superior vena cava. Signs and symptoms include swelling and cyanosis of the face, neck, and upper arms, cough, orthopnea and headache. MW, YH Superior vena cava syndrome AE CTCAE: E13819 NCIt: C3396 OAE:0002657 a menstrual disorder AE that has abnormally painful abdominal cramps during menses. MW, YH 10013934 dysmenorrhea AE CTCAE: E13077 NCIt: C34559 OAE:0002658 a behavior and neurological AE that has an exaggerated feeling of well-being which is disproportionate to events and stimuli. MW, YH 10015533 euphoria AE CTCAE: E12915 NCIt: C34598 OAE:0002659 a pain AE that has marked discomfort sensation on the lateral side of the body in the region below the ribs and above the hip. MW, YH 10016750 flank pain flank pain AE CTCAE: E12414 NCIt: C34615 OAE:0002660 a metabolic disorder AE that has an inability to properly metabolize glucose. MW, YH 10052426 glucose intolerance AE CTCAE: E12264 NCIt: C34646 OAE:0002661 a urine abnormality AE that has laboratory test results that indicate the presence of free hemoglobin in the urine. MW, YH haemoglobinuria AE 10018906 10019489 hemoglobinuria AE CTCAE: E13006 NCIt: C34677 OAE:0002662 a sweating AE that has reduced sweating. MW, YH 10021013 hypohidrosis AE CTCAE: E13652 NCIt: C34718 OAE:0002663 a bone disorder AE that has an abnormal increase in the curvature of the thoracic portion of the spine. MW, YH 10023509 kyphosis AE CTCAE: E12447 NCIt: C34754 OAE:0002664 a bone disorder AE that has an abnormal increase in the curvature of the lumbar portion of the spine. MW, YH 10024842 lordosis AE CTCAE: E12451 NCIt: C34787 OAE:0002665 a male reproductive system AE that has a decrease in the number of spermatozoa in the semen. MW, YH 10030300 oligospermia AE CTCAE: E13141 NCIt: C34860 OAE:0002666 a necrosis AE that has necrotic changes in the bone tissue due to interruption of blood supply. Most often affecting the epiphysis of the long bones, the necrotic changes result in the collapse and the destruction of the bone structure. MW, YH 10066480 avascular necrosis AE CTCAE: E12382 NCIt: C34880 OAE:0002667 an inflammation AE that has inflammation of the skin characterized by the presence of bullae which are filled with fluid. MW, YH 10006556 bullous dermatitis AE CTCAE: E13617 NCIt: C35149 OAE:0002668 a speech disorder AE that has impairment of verbal communication skills, often resulting from brain damage. MW, YH 10013951 dysphasia AE CTCAE: E12646 NCIt: C35546 OAE:0002669 a female reproductive system AE that has a narrowing of the vaginal canal. MW, YH 10053496 vaginal stricture AE CTCAE: E13290 NCIt: C36064 OAE:0002670 a metabolism, endocrine, and exocrine system AE that has abnormally high alkalinity (low hydrogen-ion concentration) of the blood and other body tissues. MW, YH 10001680 alkalosis AE CTCAE: E12247 NCIt: C37909 OAE:0002671 a gastrointestinal disorder AE that has repeated gulp sounds that result from an involuntary opening and closing of the glottis. This is attributed to a spasm of the diaphragm. MW, YH 10020039 Hiccups AE CTCAE: E13380 NCIt: C37966 OAE:0002672 an urine abnormality AE that has laboratory test results that indicate the presence of excessive protein in the urine. It is predominantly albumin, but also globulin. MW, YH 10037032 proteinuria AE CTCAE: E13008 NCIt: C38012 OAE:0002673 an inflammation AE that has generalized inflammatory erythema and exfoliation. The inflammatory process involves > 90% of the body surface area. MW, YH 10015277 erythroderma AE CTCAE: E13633 NCIt: C39646 OAE:0002674 a syndrome AE that has dysfunction of the corticospinal (pyramidal) tracts of the spinal cord. Symptoms include an increase in the muscle tone in the lower extremities, hyperreflexia, positive Babinski and a decrease in fine motor coordination. MW, YH 10063636 pyramidal tract syndrome AE CTCAE: E12780 NCIt: C43245 OAE:0002675 a brain edema AE that has swelling due to an excessive accumulation of fluid in the brain. MW, YH 10014217 edema cerebral AE CTCAE: E12650 NCIt: C4909 OAE:0002676 a tumor AE that has development of a malignancy most probably as a result of treatment for a previously existing malignancy. MW, YH 10049737 treatment related secondary malignancy AE CTCAE: E12561 NCIt: C4969 OAE:0002677 a hemorrhage AE that has bleeding from the cranium. MW, YH 10022763 intracranial hemorrhage AE CTCAE: E12696 NCIt: C50438 OAE:0002678 a death AE that has death in utero; failure of the product of conception to show evidence of respiration, heartbeat, or definite movement of a voluntary muscle after expulsion from the uterus, without possibility of resuscitation. MW, YH 10016479 fetal death AE CTCAE: E12855 NCIt: C50620 OAE:0002679 a ischemia AEE that has a brief attack (less than 24 hours) of cerebral dysfunction of vascular origin, with no persistent neurological deficit. MW, YH 10044391 transient ischemic attacks AE CTCAE: E12834 NCIt: C50781 OAE:0002680 afemale reproductive system AE that has vaginal secretions. Mucus produced by the cervical glands is discharged from the vagina naturally, especially during the childbearing years. MW, YH 10046901 vaginal discharge AE CTCAE: E13251 NCIt: C50795 OAE:0002681 a sensory capability AE that has a sudden drop of the blood pressure, bradycardia, and peripheral vasodilation that may lead to loss of consciousness. It results from an increase in the stimulation of the vagus nerve. MW, YH 10047166 vasovagal reaction AE CTCAE: E12851 NCIt: C50798 OAE:0002682 apregnancy AE that has delivery of a viable infant before the normal end of gestation. Typically, viability is achievable between the twentieth and thirty-seventh week of gestation. MW, YH 早产 10036595 premature delivery AE CTCAE: E12867 NCIt: C50917 OAE:0002683 a psychiatric disorder AE that has excitement of psychotic proportions manifested by mental and physical hyperactivity, disorganization of behavior and elevation of mood. MW, YH 10026749 mania AE CTCAE: E12936 NCIt: C61374 OAE:0002684 a hair growth abnormal AE that has the presence of excess hair growth in women in anatomic sites where growth is considered to be a secondary male characteristic and under androgen control (beard, moustache, chest, abdomen) MW, YH 10020112 hirsutism AE CTCAE: E13642 NCIt: C61444 OAE:0002685 a necrosis AE that has a necrotic process occurring in the bone of the mandible. MW, YH 10064658 osteonecrosis of jaw AE CTCAE: E12502 NCIt: C63924 OAE:0002686 a necrosis AE that has a necrotic process occurring in the soft tissues of the abdominal wall. MW, YH 10065775 abdominal soft tissue necrosis AE CTCAE: E12369 NCIt: C78165 OAE:0002687 a metabolic disorder AE that has an increase in sensitivity to the adverse effects of alcohol, which can include nasal congestion, skin flushes, heart dysrhythmias, nausea, vomiting, indigestion and headaches. MW, YH 10001598 alcohol intolerance AE CTCAE: E12242 NCIt: C78167 OAE:0002688 a psychiatric disorder AE that has an inability to achieve orgasm. MW, YH 10002652 anorgasmia AE CTCAE: E12880 NCIt: C78177 OAE:0002689 an urinary system AE that has a rupture in the bladder wall. MW, YH 10063575 bladder perforation AE CTCAE: E12979 NCIt: C78208 OAE:0002690 an urinary system AE that has a sudden and involuntary contraction of the bladder wall. MW, YH 10048994 bladder spasm AE CTCAE: E12984 NCIt: C78210 OAE:0002691 a hemorrhage AE that is bleeding from the bronchial wall and/or lung parenchyma. MW, YH 10065746 bronchopulmonary hemorrhage AE CTCAE: E13346 NCIt: C78224 OAE:0002692 a respiratory system AE that has blockage of a bronchus passage, most often by bronchial secretions and exudates. MW, YH 10006440 bronchial obstruction AE CTCAE: E13328 NCIt: C78225 OAE:0002693 a respiratory system AE that has a narrowing of the bronchial tube. MW, YH 10063524 bronchial stricture AE CTCAE: E13334 NCIt: C78226 OAE:0002694 a necrosis AE that has a necrotic process occurring in the brain and/or spinal cord. MW, YH 10065784 central nervous system necrosis AE CTCAE: E12605 NCIt: C78236 OAE:0002695 a pain AE that has marked discomfort sensation in the chest wall region. MW, YH 10008496 chest wall pain AE CTCAE: E12400 NCIt: C78238 OAE:0002696 a cystitis AE that has inflammation of the bladder which is not caused by an infection of the urinary tract. MW, YH 10063057 cystitis noninfective AE CTCAE: E12994 NCIt: C78250 OAE:0002697 a psychiatric disorder AE that has sexual dysfunction characterized by a delay in climax. MW, YH 10057066 delayed orgasm AE CTCAE: E12895 NCIt: C78252 OAE:0002698 a male reproductive system AE that has problems related to ejaculation. This category includes premature, delayed, retrograde and painful ejaculation. MW, YH 10014326 ejaculation disorder AE CTCAE: E13085 NCIt: C78264 OAE:0002699 a muscular weakness AE that has a reduction in the strength of the facial muscles. MW, YH 10051272 facial muscle weakness AE CTCAE: E12664 NCIt: C78290 OAE:0002700 a female reproductive system AE that has blockage of the normal flow of the contents in the fallopian tube. MW, YH 10065789 fallopian tube obstruction AE CTCAE: E13092 NCIt: C78293 OAE:0002701 a female reproductive system AE that has a narrowing of the fallopian tube lumen. MW, YH 10065791 fallopian tube stenosis AE CTCAE: E13096 NCIt: C78295 OAE:0002702 a connective tissue disorder AE that has shrinking of adipose tissue. MW, YH 10016241 fat atrophy AE CTCAE: E13638 NCIt: C78297 OAE:0002703 a fistula AE that has an abnormal communication between a female reproductive system organ and another organ or anatomic site. MW, YH 10061149 female genital tract fistula AE CTCAE: E13102 NCIt: C78298 OAE:0002704 an endocrine system AE that has the development of secondary female sex characteristics in males due to extrinsic factors. MW, YH 10054382 feminization acquired AE CTCAE: E13108 NCIt: C78299 OAE:0002705 a connective tissue disorder AE that has fibrotic degeneration of the deep connective tissues. MW, YH 10065799 fibrosis deep connective tissue AE CTCAE: E12408 NCIt: C78301 OAE:0002706 a muscular weakness AE that has a reduction in the strength of muscles in multiple anatomic sites. MW, YH 10062572 generalized muscle weakness AE CTCAE: E12418 NCIt: C78323 OAE:0002707 a musculoskeletal and connective tissue AE that has stature that is smaller than normal as expected for age. MW, YH 10018761 growth suppression AE CTCAE: E12422 NCIt: C78328 OAE:0002708 a necrosis AE that has a necrotic process occurring in the soft tissues of the head. MW, YH 10065779 head soft tissue necrosis AE CTCAE: E12426 NCIt: C78331 OAE:0002709 a female reproductive system AE that has the presence of blood in a fallopian tube. MW, YH 10060602 hematosalpinx AE CTCAE: E13119 NCIt: C78332 OAE:0002710 a sleep disorder AE that has characterized by excessive sleepiness during the daytime. MW, YH 10020765 hypersomnia AE CTCAE: E12688 NCIt: C78346 OAE:0002711 a homeostasis AE that has accumulation of iron in the tissues. MW, YH 10065973 iron overload AE CTCAE: E12350 NCIt: C78393 OAE:0002712 an ischemia AE that has a decrease or absence of blood supply to the brain caused by obstruction (thrombosis or embolism) of an artery resulting in neurological damage. MW, YH 10023030 ischemia cerebrovascular AE CTCAE: E12702 NCIt: C78394 OAE:0002713 a cranial neuropathy AE that has involvement of the trochlear nerve (fourth cranial nerve). MW, YH 10065836 IVth nerve disorder AE CTCAE: E12705 NCIt: C78395 OAE:0002714 a joint disorder AE that has a decrease in flexibility of a cervical spine joint. MW, YH 10065796 joint range of motion decreased cervical spine AE CTCAE: E12439 NCIt: C78404 OAE:0002715 a joint disorder AE that has a decrease in flexibility of a lumbar spine joint. MW, YH 10065800 joint range of motion decreased lumbar spine AE CTCAE: E12443 NCIt: C78405 OAE:0002716 a fistula AE that has an abnormal communication between the larynx and another organ or anatomic site. MW, YH 10065786 laryngeal fistula AE CTCAE: E13399 NCIt: C78410 OAE:0002717 a hemorrhage AE that has bleeding from the larynx. MW, YH 10065759 laryngeal hemorrhage AE CTCAE: E13405 NCIt: C78411 OAE:0002718 an inflammation AE that has an inflammation involving the mucous membrane of the larynx. MW, YH 10065880 laryngeal mucositis AE CTCAE: E13415 NCIt: C78412 OAE:0002719 a respiratory system AE that has blockage of the laryngeal airway. MW, YH 10059639 laryngeal obstruction AE CTCAE: E13421 NCIt: C78413 OAE:0002720 a libido disorder AE that has a decrease in sexual desire. MW, YH 10024419 libido decreased AE CTCAE: E12929 NCIt: C78432 OAE:0002721 a libido disorder AE that has an increase in sexual desire. MW, YH 10024421 libido increased AE CTCAE: E12932 NCIt: C78433 OAE:0002722 a skin AE that has hypertrophy of the subcutaneous adipose tissue at the site of multiple subcutaneous injections of insulin. MW, YH 10062315 lipohypertrophy AE CTCAE: E13657 NCIt: C78436 OAE:0002723 an immune system AE that has the loss of lymph fluid into the surrounding tissue or body cavity. MW, YH 10065773 lymph leakage AE CTCAE: E13797 NCIt: C78439 OAE:0002724 an immune system AE that has a cystic lesion containing lymph. MW, YH 10048642 lymphocele AE CTCAE: E13806 NCIt: C78442 OAE:0002725 a hemorrhage AE that has bleeding from the mediastinum. MW, YH 10056356 mediastinal hemorrhage AE CTCAE: E13444 NCIt: C78443 OAE:0002726 a movement disorder AE that has uncontrolled and purposeless movements. MW, YH 10028041 movements involuntary AE CTCAE: E12728 NCIt: C78453 OAE:0002727 a muscular weakness AE that has a reduction in the strength of the muscles on the left side of the body. MW, YH 10065780 muscle weakness left-sided AE CTCAE: E12455 NCIt: C78455 OAE:0002728 a muscular weakness AE that has a reduction in the strength of the lower limb muscles. MW, YH 10065776 muscle weakness lower limb AE CTCAE: E12459 NCIt: C78456 OAE:0002729 a muscular weakness AE that has a reduction in the strength of the muscles on the right side of the body. MW, YH 10065794 muscle weakness right-sided AE CTCAE: E12463 NCIt: C78457 OAE:0002730 a muscular weakness AE that has a reduction in the strength of the trunk muscles. MW, YH 10065795 muscle weakness trunk AE CTCAE: E12467 NCIt: C78458 OAE:0002731 a muscular weakness AE that has a reduction in the strength of the upper limb muscles. MW, YH 10065895 muscle weakness upper limb AE CTCAE: E12471 NCIt: C78459 OAE:0002732 a musculoskeletal and connective tissue AE that has a malformation of the musculoskeletal system. MW, YH 10065783 musculoskeletal deformity AE CTCAE: E12481 NCIt: C78488 OAE:0002733 a nail AE that has a change in the color of the nail plate. MW, YH 10028691 nail discoloration AE CTCAE: E13661 NCIt: C78492 OAE:0002734 a nail AE that has loss of all or a portion of the nail. MW, YH 10049281 nail loss AE CTCAE: E13663 NCIt: C78494 OAE:0002735 a nail AE that has vertical or horizontal ridges on the nails. MW, YH 10062283 nail ridging AE CTCAE: E13666 NCIt: C78499 OAE:0002736 a necrosis AE that has a necrotic process occurring in the soft tissues of the neck. MW, YH 10065781 neck soft tissue necrosis AE CTCAE: E12497 NCIt: C78502 OAE:0002737 a female reproductive system AE that has a malformation of the nipple. MW, YH 10065823 nipple deformity AE CTCAE: E13138 NCIt: C78503 OAE:0002738 a hemorrhage AE that has bleeding from the ovary. MW, YH 10065763 ovarian hemorrhage AE CTCAE: E13145 NCIt: C78511 OAE:0002739 a female reproductive system AE that is tearing or disruption of the ovarian tissue. MW, YH 10033279 ovarian rupture AE CTCAE: E13151 NCIt: C78513 OAE:0002740 a pain AE that has marked discomfort sensation in one side of the abdomen between menstrual cycles, around the time of the discharge of the ovum from the ovarian follicle. MW, YH 10033314 ovulation pain AE CTCAE: E13157 NCIt: C78514 OAE:0002741 a muscular weakness AE that has a reduction in the strength of the muscles of the pelvic floor. MW, YH 10064026 pelvic floor muscle weakness AE CTCAE: E13161 NCIt: C78524 OAE:0002742 a necrosis AE that has a necrotic process occurring in the soft tissues of the pelvis. MW, YH 10065793 pelvic soft tissue necrosis AE CTCAE: E12516 NCIt: C78525 OAE:0002743 a pain AE that has marked discomfort sensation in the penis. MW, YH 10034310 penile pain AE CTCAE: E13171 NCIt: C78527 OAE:0002744 a psychiatric disorder AE that has a conspicuous change in a person's behavior and thinking. MW, YH 10034719 personality change AE CTCAE: E12942 NCIt: C78548 OAE:0002745 a fistula AE that has an abnormal communication between the pharynx and another organ or anatomic site. MW, YH 10034825 pharyngeal fistula AE CTCAE: E13454 NCIt: C78551 OAE:0002746 an inflammation AE that has an inflammation involving the mucous membrane of the pharynx. MW, YH 10065881 pharyngeal mucositis AE CTCAE: E13466 NCIt: C78553 OAE:0002747 a necrosis AE that has a necrotic process occurring in the pharynx. MW, YH 10065706 pharyngeal necrosis AE CTCAE: E13472 NCIt: C78554 OAE:0002748 a respiratory system AE that has a narrowing of the pharyngeal airway. MW, YH 10050028 pharyngeal stenosis AE CTCAE: E13476 NCIt: C78555 OAE:0002749 a hemorrhage AE that has bleeding from the prostate gland. MW, YH 10055325 prostatic hemorrhage AE CTCAE: E13181 NCIt: C78572 OAE:0002750 a prostatic disorder AE that has compression of the urethra secondary to enlargement of the prostate gland. This results in voiding difficulties (straining to void, slow urine stream, and incomplete emptying of the bladder). MW, YH 10055026 prostatic obstruction AE CTCAE: E13187 NCIt: C78573 OAE:0002751 a pain AE that has a sensation of marked discomfort in the prostate gland. MW, YH 10036968 prostatic pain AE CTCAE: E13191 NCIt: C78574 OAE:0002752 a psychiatric disorder AE that has personality change, impaired functioning, and loss of touch with reality. It may be a manifestation of schizophrenia, bipolar disorder or brain tumor. MW, YH 10037234 psychosis AE CTCAE: E12954 NCIt: C78576 OAE:0002753 a fistula AE that has an abnormal communication between the lung and another organ or anatomic site. MW, YH 10065873 pulmonary fistula AE CTCAE: E13533 NCIt: C78577 OAE:0002754 an inflammation AE that has inflammation involving a nerve root. Patients experience marked discomfort radiating along a nerve path because of spinal pressure on the connecting nerve root. MW, YH 10061928 radiculitis AE CTCAE: E12786 NCIt: C78581 OAE:0002755 a recurrent alsy AE that occurs at the laryngeal nerve. MW, YH 10038130 recurrent laryngeal nerve palsy AE CTCAE: E12792 NCIt: C78592 OAE:0002756 a renal calculus AE that has paroxysmal and severe flank marked discomfort radiating to the inguinal area. Often, the cause is the passage of kidney stones. MW, YH 10038419 renal colic AE CTCAE: E13024 NCIt: C78593 OAE:0002757 a hemorrhage AE that has bleeding from the kidney. MW, YH 10038463 renal hemorrhage AE CTCAE: E13028 NCIt: C78594 OAE:0002758 a syndrome AE that has weight gain, dyspnea, pleural and pericardial effusions, leukocytosis and/or renal failure originally described in patients treated with all-trans retinoic acid. MW, YH 10038921 retinoic acid syndrome AE CTCAE: E13554 NCIt: C78597 OAE:0002759 a bone disorder AE that has a malformed, lateral curvature of the spine. MW, YH 10039722 scoliosis AE CTCAE: E12521 NCIt: C78603 OAE:0002760 a pain AE that has marked discomfort sensation in the scrotal area. MW, YH 10039757 scrotal pain AE CTCAE: E13201 NCIt: C78607 OAE:0002761 a pain AE that has marked discomfort in the face, between the eyes, or upper teeth originating from the sinuses. MW, YH 10040747 sinus pain AE CTCAE: E12810 NCIt: C78609 OAE:0002762 an induration AE that has an area of hardness in the skin. MW, YH 10051837 skin induration AE CTCAE: E13724 NCIt: C78611 OAE:0002763 a necrosis AE that has a necrotic process occurring in the soft tissues of the lower extremity. MW, YH 10065777 soft tissue necrosis lower limb AE CTCAE: E12525 NCIt: C78620 OAE:0002764 a necrosis AE that has a necrotic process occurring in the soft tissues of the upper extremity. MW, YH 10065778 soft tissue necrosis upper limb AE CTCAE: E12530 NCIt: C78621 OAE:0002765 a hemorrhage AE that has bleeding from the spermatic cord. MW, YH 10065762 spermatic cord hemorrhage AE CTCAE: E13205 NCIt: C78623 OAE:0002766 a male reproductive system AE that has blockage of the normal flow of the contents of the spermatic cord. MW, YH 10065805 spermatic cord obstruction AE CTCAE: E13211 NCIt: C78624 OAE:0002767 a connective tissue disorder AE that has fibrotic degeneration of the superficial soft tissues. MW, YH 10065798 superficial soft tissue fibrosis AE CTCAE: E12535 NCIt: C78633 OAE:0002768 a hemorrhage AE that has bleeding from the testis. MW, YH 10055347 testicular hemorrhage AE CTCAE: E13221 NCIt: C78635 OAE:0002769 a pain AE that has a sensation of marked discomfort in the testis. MW, YH 10043345 testicular pain AE CTCAE: E13227 NCIt: C78636 OAE:0002770 a fistula AE that hasan abnormal communication between the trachea and another organ or anatomic site. MW, YH 10065787 tracheal fistula AE CTCAE: E13583 NCIt: C78641 OAE:0002771 an inflammation AE that has an inflammation involving the mucous membrane of the trachea. MW, YH 10065900 tracheal mucositis AE CTCAE: E13589 NCIt: C78644 OAE:0002772 a respiratory system AE that has a narrowing of the trachea. MW, YH 10050816 tracheal stenosis AE CTCAE: E13595 NCIt: C78646 OAE:0002773 a pain AE that has marked discomfort from a neoplasm that may be pressing on a nerve, blocking blood vessels, inflamed or fractured from metastasis. MW, YH 10045158 tumor pain AE CTCAE: E12565 NCIt: C78656 OAE:0002774 a musculoskeletal and connective tissue AE that hasa discrepancy between the lengths of the lower or upper extremities. MW, YH 10065738 unequal limb length AE CTCAE: E12545 NCIt: C78657 OAE:0002775 an urine abnormality AE that has a change in the color of the urine. MW, YH 10046628 urine discoloration AE CTCAE: E13065 NCIt: C78678 OAE:0002776 a fistula AE that has an abnormal communication between the uterus and another organ or anatomic site. MW, YH 10065811 uterine fistula AE CTCAE: E13231 NCIt: C78685 OAE:0002777 an urinary system AE that has blockage of the uterine outlet. MW, YH 10065928 uterine obstruction AE CTCAE: E13243 NCIt: C78693 OAE:0002778 a pain AE that has a sensation of marked discomfort in the uterus. MW, YH 10046809 uterine pain AE CTCAE: E13247 NCIt: C78694 OAE:0002779 a female reproductive system AE that has an uncomfortable feeling of itching and burning in the vagina. MW, YH 10046904 vaginal dryness AE CTCAE: E13254 NCIt: C78699 OAE:0002780 a female reproductive system AE that has blockage of vaginal canal. MW, YH 10065817 vaginal obstruction AE CTCAE: E13276 NCIt: C78700 OAE:0002781 a pain AE that has a sensation of marked discomfort in the vagina. MW, YH 10046937 vaginal pain AE CTCAE: E13280 NCIt: C78701 OAE:0002782 a female reproductive system AE that has a rupture in the vaginal wall. MW, YH 10065818 vaginal perforation AE CTCAE: E13284 NCIt: C78702 OAE:0002783 a female reproductive system AE that hasinvoluntary spasms of the pelvic floor muscles, resulting in pathologic tightness of the vaginal wall during penetration such as during sexual intercourse. MW, YH 10046947 vaginismus AE CTCAE: E13295 NCIt: C78703 OAE:0002784 an ischemia AE that has a decrease in blood supply due to narrowing or blockage of a visceral (mesenteric) artery. MW, YH 10054692 visceral arterial ischemia AE CTCAE: E13843 NCIt: C78712 OAE:0002785 a skin AE that has an abnormal body smell resulting from the growth of bacteria on the body. MW, YH 10005901 body odor AE CTCAE: E13614 NCIt: C79542 OAE:0002786 a fistula AE that has an abnormal communication between the bronchus and another organ or anatomic site. MW, YH 10006437 bronchial fistula AE CTCAE: E13322 NCIt: C79543 OAE:0002787 a nervous system AE that has an abnormal, repetitive, involuntary muscle movements, frenzied speech and extreme restlessness. MW, YH 10015832 extrapyramidal disorder AE CTCAE: E12658 NCIt: C79593 OAE:0002788 a hair growth abnormal AE that has hair density or length beyond the accepted limits of normal in a particular body region, for a particular age or race. MW, YH 10020864 hypertrichosis AE CTCAE: E13649 NCIt: C79597 OAE:0002789 a female reproductive system AE that has disturbances of milk secretion. It is not necessarily related to pregnancy that is observed in females and can be observed in males. MW, YH 10061261 lactation disorder AE CTCAE: E13129 NCIt: C79606 OAE:0002790 a respiratory system AE that has a narrowing of the laryngeal airway. MW, YH 10023862 laryngeal stenosis AE CTCAE: E13427 NCIt: C79608 OAE:0002791 a nervous system AE that has neck stiffness, headache, and photophobia resulting from irritation of the cerebral meninges. MW, YH 10027198 meningismus AE CTCAE: E12722 NCIt: C79694 OAE:0002792 a pain AE that has marked discomfort related to a limb or an organ that is removed from or is not physically part of the body. MW, YH 10056238 phantom pain AE CTCAE: E12774 NCIt: C79703 OAE:0002793 a pain AE that has marked discomfort sensation in the skin covering the top and the back of the head. MW, YH 10049120 scalp pain AE CTCAE: E13704 NCIt: C79716 OAE:0002794 a pregnancy AE that has an unexpected pregnancy at the time of conception. MW, YH 10045542 unintended pregnancy AE CTCAE: E12872 NCIt: C79801 OAE:0002795 a urinary tract disoder AE that has blockage of the normal flow of contents of the urinary tract. MW, YH 10061574 urinary tract obstruction AE CTCAE: E13052 NCIt: C79805 OAE:0002796 a fistula AE that has an abnormal communication between the vagina and another organ or anatomic site. MW, YH 10065813 vaginal fistula AE CTCAE: E13258 NCIt: C79847 OAE:0002797 a fistula AE that has an abnormal communication between any part of the urinary system and another organ or anatomic site. MW, YH 10065368 urinary fistula AE CTCAE: E13034 NCIt: C79850 OAE:0002798 a male reproductive system AE that has laboratory test results that indicate complete absence of spermatozoa in the semen. MW, YH 10003883 azoospermia AE CTCAE: E13067 NCIt: C80076 OAE:0002799 a renal failure AE that has gradual and usually permanent loss of kidney function resulting in renal failure. MW, YH 10064848 chronic kidney disease AE CTCAE: E12988 NCIt: C80078 OAE:0002800 a behavior and neurological AE that has a deterioration in the ability to concentrate. MW, YH 10010250 concentration impairment AE CTCAE: E12621 NCIt: C80081 OAE:0002801 a fetal disorder AE that has inhibition of fetal growth resulting in the inability of the fetus to achieve its potential weight. MW, YH 10054746 fetal growth retardation AE CTCAE: E12857 NCIt: C80083 OAE:0002802 a menstrual disorder AE that has ovarian failure before the age of 40. Symptoms include hot flashes, night sweats, mood swings and a decrease in sex drive. MW, YH 10036601 premature menopause AE CTCAE: E13179 NCIt: C80099 OAE:0002803 a tumor AE that has leukemia arising as a result of the mutagenic effect of chemotherapy agents. MW, YH 10048293 leukemia secondary to oncology chemotherapy AE CTCAE: E12549 NCIt: C80691 OAE:0002804 a fistula AE that has an abnormal communication between a bronchus and the pleural cavity. MW, YH 10053481 bronchopleural fistula AE CTCAE: E13340 NCIt: C80694 OAE:0002805 a pain AE that has a sensation of marked discomfort in the urinary tract. MW, YH 10062225 urinary tract pain AE CTCAE: E13058 NCIt: C83493 OAE:0002806 a female reproductive system AE that has underdevelopment of the breast. MW, YH 10006179 breast atrophy AE CTCAE: E13069 NCIt: C83494 OAE:0002808 an AE that occurs in an incision site. YH, SS incision site AE OAE:0002810 a hymphedema AE that has trace thickening or faint discoloration YH, MW Grade 1 lymphedema AE CTCAE: E13803 OAE:0002811 a hymphedema AE that has marked discoloration; leathery skin texture; papillary formation; limiting instrumental ADL YH, MW Grade 2 lymphedema AE CTCAE: E13804 OAE:0002812 a superior vena cava syndrome AE that has asymptomatic; incidental finding of SVC thrombosis YH, MW Grade 1 superior vena cava syndrome AE CTCAE: E13820 OAE:0002813 a superior vena cava syndrome AEthat has symptomatic; medical intervention indicated (e.g., anticoagulation, radiation or chemotherapy) YH, MW Grade 2 superior vena cava syndrome AE CTCAE: E13821 OAE:0002814 a superior vena cava syndrome AE that has severe symptoms; multi-modality intervention indicated (e.g., anticoagulation, chemotherapy, radiation, stenting) YH, MW Grade 3 superior vena cava syndrome AE CTCAE: E13822 OAE:0002815 a superior vena cava syndrome AE that has life-threatening consequences; urgent multi-modality intervention indicated (e.g., lysis, thrombectomy, surgery) YH, MW Grade 4 superior vena cava syndrome AE CTCAE: E13823 OAE:0002816 a thromboembolic event AE that has venous thrombosis (e.g., superficial thrombosis) YH, MW Grade 1 thromboembolic event AE CTCAE: E13826 OAE:0002817 a thromboembolic event AE that has venous thrombosis (e.g., uncomplicated deep vein thrombosis), medical intervention indicated YH, MW Grade 2 thromboembolic event AE CTCAE: E13827 OAE:0002818 a thromboembolic event AE that has thrombosis (e.g., uncomplicated pulmonary embolism [venous], non-embolic cardiac mural [arterial] thrombus), medical intervention indicated YH, MW Grade 3 thromboembolic event AE CTCAE: E13828 OAE:0002819 a thromboembolic event AE that has life-threatening (e.g., pulmonary embolism, cerebrovascular event, arterial insufficiency); hemodynamic or neurologic instability; urgent intervention indicated YH, MW Grade 4 thromboembolic event AE CTCAE: E13829 OAE:0002820 a visceral arterial ischemia AE that has brief (<24 hrs) episode of ischemia managed medically and without permanent deficit YH, MW Grade 2 visceral arterial ischemia AE CTCAE: E13844 OAE:0002821 a visceral arterial ischemia AE that has prolonged (>=24 hrs) or recurring symptoms and/or invasive intervention indicated YH, MW Grade 3 visceral arterial ischemia AE CTCAE: E13845 OAE:0002822 a menopause AE that the menopause occurres at age 46 - 53 years of age YH, MW Grade 1 menopause AE CTCAE: E13751 OAE:0002823 a menopause AE that the menopause occurres at age 40 - 45 years of age YH, MW Grade 2 menopause AE CTCAE: E13752 OAE:0002824 a menopause AE that the menopause occurres before age 40 years of age YH, MW Grade 3 menopause AE CTCAE: E13753 OAE:0002825 a body odor AE that has mild odor; physician intervention not indicated; self care interventions YH, MW Grade 1 body odor AE CTCAE: E13615 OAE:0002826 a body odor AE that has pronounced odor; psychosocial impact; patient seeks medical intervention YH, MW Grade 2 body odor AE CTCAE: E13616 OAE:0002827 a bullous AE that has asymptomatic; blisters covering <10% BSA YH, MW Grade 1 bullous dermatitis AE CTCAE: E13618 OAE:0002828 a bullous AE that has blisters covering 10 - 30% BSA; painful blisters; limiting instrumental ADL YH, MW Grade 2 bullous dermatitis AE CTCAE: E13619 OAE:0002829 a bullous AE that has blisters covering >30% BSA; limiting self care ADL YH, MW Grade 3 bullous dermatitis AE CTCAE: E13620 OAE:0002830 a bullous AE that has blisters covering >30% BSA; associated with fluid or electrolyte abnormalities; ICU care or burn unit indicated YH, MW Grade 4 bullous dermatitis AE CTCAE: E13621 OAE:0002831 an erythroderma AE that has erythema covering >90% BSA without associated symptoms; limiting instrumental ADL YH, MW Grade 2 erythroderma AE CTCAE: E13634 OAE:0002832 an erythroderma AE that has erythema covering >90% BSA with associated symptoms (e.g., pruritus or tenderness); limiting self care ADL YH, MW Grade 3 erythroderma AE CTCAE: E13635 OAE:0002833 an erythroderma AE that has erythema covering >90% BSA with associated fluid or electrolyte abnormalities; ICU care or burn unit indicated YH, MW Grade 4 erythroderma AE CTCAE: E13636 OAE:0002834 a fat atrophy AE that is covering <10% BSA and asymptomatic YH, MW Grade 1 fat atrophy AE CTCAE: E13639 OAE:0002835 a fat atrophy AE that is covering 10 - 30% BSA and associated with erythema or tenderness; limiting instrumental ADL YH, MW Grade 2 fat atrophy AE CTCAE: E13640 OAE:0002836 a fat atrophy AE that is covering >30% BSA; associated with erythema or tenderness; limiting self-care ADL YH, MW Grade 3 fat atrophy AE CTCAE: E13641 OAE:0002837 a hirsutism AE that is In women, increase in length, thickness or density of hair in a male distribution that the patient is able to camouflage by periodic shaving, bleaching, or removal of hair YH, MW Grade 1 hirsutism AE CTCAE: E13643 OAE:0002838 a hirsutism AE that In women, increase in length, thickness or density of hair in a male distribution that requires daily shaving or consistent destructive means of hair removal to camouflage; associated with psychosocial impact YH, MW Grade 2 hirsutism AE CTCAE: E13644 OAE:0002839 a hypertrichosis AE that has increased in length, thickness or density of hair. The patient is either able to camouflage by periodic shaving or removal of hairs or is not concerned enough about the overgrowth to use any form of hair removal YH, MW Grade 1 hypertrichosis AE CTCAE: E13650 OAE:0002840 a hypertrichosis AE that has increased in length, thickness or density of hair at least on the usual exposed areas of the body [face (not limited to beard/moustache area) plus/minus arms] that requires frequent shaving or use of destructive means of hair removal to camouflage; associated with psychosocial impact YH, MW Grade 2 hypertrichosis AE CTCAE: E13651 OAE:0002841 a hypertrichosis AE that has increased in body temperature; limiting self care ADL YH, MW Grade 3 hypohidrosis AE CTCAE: E13654 OAE:0002842 a hypertrichosis AE that has heat stroke YH, MW Grade 4 hypohidrosis AE CTCAE: E13655 OAE:0002843 a lipohypertrophy AE that has asymptomatic and covering <10% BSA YH, MW Grade 1 lipohypertrophy AE CTCAE: E13658 OAE:0002844 a lipohypertrophy AE that covers 10 - 30% BSA and associated tenderness; limiting instrumental ADL YH, MW Grade 2 lipohypertrophy AE CTCAE: E13659 OAE:0002845 a lipohypertrophy AE that covers >30% BSA and associated tenderness and narcotics or NSAIDs indicated; lipohypertrophy; limiting self care ADL YH, MW Grade 3 lipohypertrophy AE CTCAE: E13660 OAE:0002846 a nail loss AE that has asymptomatic separation of the nail bed from the nail plate or nail loss YH, MW Grade 1 nail loss AE CTCAE: E13664 OAE:0002847 a nail loss AE that has symptomatic separation of the nail bed from the nail plate or nail loss; limiting instrumental ADL YH, MW Grade 2 nail loss AE CTCAE: E13665 OAE:0002848 a rash acneiform AE that has papules and/or pustules covering <10% BSA, which may or may not be associated with symptoms of pruritus or tenderness YH, MW Grade 1 rash acneiform AE CTCAE: E13695 OAE:0002849 a rash acneiform AE that has papules and/or pustules covering 10 - 30% BSA, which may or may not be associated with symptoms of pruritus or tenderness; associated with psychosocial impact; limiting instrumental ADL YH, MW Grade 2 rash acneiform AE CTCAE: E13696 OAE:0002850 a rash acneiform AE that has papules and/or pustules covering >30% BSA, which may or may not be associated with symptoms of pruritus or tenderness; limiting self care ADL; associated with local superinfection with oral antibiotics indicated YH, MW Grade 3 rash acneiform AE CTCAE: E13697 OAE:0002851 a rash acneiform AE that has papules and/or pustules covering any % BSA, which may or may not be associated with symptoms of pruritus or tenderness and are associated with extensive superinfection with IV antibiotics indicated; life-threatening consequences YH, MW Grade 4 rash acneiform AE CTCAE: E13698 OAE:0002852 a rash maculopapular AE that has macules/papules covering <10% BSA with or without symptoms (e.g., pruritus, burning, tightness) YH, MW Grade 1 rash maculo-papular AE CTCAE: E13701 OAE:0002853 a rash maculopapular AE that has macules/papules covering 10 - 30% BSA with or without symptoms (e.g., pruritus, burning, tightness); limiting instrumental ADL YH, MW Grade 2 rash maculo-papular AE CTCAE: E13702 OAE:0002854 a rash maculopapular AE that has macules/papules covering >30% BSA with or without associated symptoms; limiting self care ADL YH, MW Grade 3 rash maculo-papular AE CTCAE: E13703 OAE:0002855 a skin induration AE that has mild induration, able to move skin parallel to plane (sliding) and perpendicular to skin (pinching up) YH, MW Grade 1 skin induration AE CTCAE: E13725 OAE:0002856 a skin induration AE that has moderate induration, able to slide skin, unable to pinch skin; limiting instrumental ADL YH, MW Grade 2 skin induration AE CTCAE: E13726 OAE:0002857 a skin induration AE that has severe induration, unable to slide or pinch skin; limiting joint movement or orifice (e.g., mouth, anus); limiting self care ADL YH, MW Grade 3 skin induration AE CTCAE: E13727 OAE:0002858 a skin induration AE that has generalized; associated with signs or symptoms of impaired breathing or feeding YH, MW Grade 4 skin induration AE CTCAE: E13728 OAE:0002859 a bronchial fistula AE that has symptomatic; tube thoracostomy or medical management indicated; limiting instrumental ADL YH, MW Grade 2 bronchial fistula AE CTCAE: E13324 OAE:0002860 a bronchial fistula AE that has severe symptoms; limiting self care ADL; endoscopic or operative intervention indicated (e.g., stent or primary closure) YH, MW Grade 3 bronchial fistula AE CTCAE: E13325 OAE:0002861 a bronchial fistula AE that has life-threatening consequences; urgent operative intervention with thoracoplasty, chronic open drainage or multiple thoracotomies indicated YH, MW Grade 4 bronchial fistula AE CTCAE: E13326 OAE:0002862 a bronchial obstruction AE that has symptomatic (e.g., mild wheezing); endoscopic evaluation indicated; radiographic evidence of atelectasis/lobar collapse; medical management indicated (e.g., steroids, bronchodilators) YH, MW Grade 2 bronchial obstruction AE CTCAE: E13330 OAE:0002863 a bronchial obstruction AE that has shortness of breath with stridor; endoscopic intervention indicated (e.g., laser, stent placement) YH, MW Grade 3 bronchial obstruction AE CTCAE: E13331 OAE:0002864 a bronchial stricture AE that AE symptomatic (e.g., rhonchi or wheezing) but without respiratory distress; medical intervention indicated (e.g., steroids, bronchodilators) YH, MW Grade 2 bronchial stricture AE CTCAE: E13336 OAE:0002865 a bronchial stricture AE that AE shortness of breath with stridor; endoscopic intervention indicated (e.g., laser, stent placement) YH, MW Grade 3 bronchial stricture AE CTCAE: E13337 OAE:0002866 a bronchopleural fistula AE that has severe symptoms; limiting self care ADL; endoscopic or operative intervention indicated (e.g., stent or primary closure) YH, MW Grade 3 bronchopleural fistula AE CTCAE: E13343 OAE:0002867 a bronchopleural fistula AE that has life-threatening consequences; urgent operative intervention with thoracoplasty, chronic open drainage or multiple thoracotomies indicated YH, MW Grade 4 bronchopleural fistula AE CTCAE: E13344 OAE:0002868 a laryngeal fistula AE that has symptomatic; tube thoracostomy or medical management indicated; limiting instrumental ADL YH, MW Grade 2 laryngeal fistula AE CTCAE: E13401 OAE:0002869 a laryngeal fistula AE that has severe symptoms; limiting self care ADL; endoscopic or operative intervention indicated (e.g., stent or primary closure) YH, MW Grade 3 laryngeal fistula AE CTCAE: E13402 OAE:0002870 a laryngeal fistula AE that has life-threatening consequences; urgent operative intervention indicated (e.g., thoracoplasty, chronic open drainage or multiple thoracotomies) YH, MW Grade 4 laryngeal fistula AE CTCAE: E13403 OAE:0002871 a laryngeal hemorrhage AE that has mild cough or trace hemoptysis; laryngoscopic findings YH, MW Grade 1 laryngeal hemorrhage AE CTCAE: E13406 OAE:0002872 a laryngeal inflammation AE that has mild sore throat; raspy voice YH, MW Grade 1 laryngeal inflammation AE CTCAE: E13412 OAE:0002873 a laryngeal inflammation AE that has moderate sore throat; analgesics indicated YH, MW Grade 2 laryngeal inflammation AE CTCAE: E13413 OAE:0002874 a laryngeal inflammation AE that has severe throat pain; endoscopic intervention indicated YH, MW Grade 3 laryngeal inflammation AE CTCAE: E13414 OAE:0002875 a laryngeal mucositis AE that has endoscopic findings only; mild discomfort with normal intake YH, MW Grade 1 laryngeal mucositis AE CTCAE: E13416 OAE:0002876 a laryngeal mucositis AE that has moderate discomfort; altered oral intake YH, MW Grade 2 laryngeal mucositis AE CTCAE: E13417 OAE:0002877 a laryngeal mucositis AE that has severe pain; severely altered eating/swallowing; medical intervention indicated YH, MW Grade 3 laryngeal mucositis AE CTCAE: E13418 OAE:0002878 a laryngeal mucositis AE that has life-threatening airway compromise; urgent intervention indicated (e.g., tracheotomy or intubation) YH, MW Grade 4 laryngeal mucositis AE CTCAE: E13419 OAE:0002879 a laryngeal obstruction AE that has symptomatic (e.g., noisy airway breathing), but causing no respiratory distress; medical management indicated (e.g., steroids); limiting instrumental ADL YH, MW Grade 2 laryngeal obstruction AE CTCAE: E13423 OAE:0002880 a laryngeal obstruction AE that has limiting self care ADL; stridor; endoscopic intervention indicated (e.g., stent, laser) YH, MW Grade 3 laryngeal obstruction AE CTCAE: E13424 OAE:0002881 a laryngeal stenosis AE that has symptomatic (e.g., noisy airway breathing), but causing no respiratory distress; medical management indicated (e.g., steroids) YH, MW Grade 2 laryngeal stenosis AE CTCAE: E13429 OAE:0002882 a laryngeal stenosis AE that has limiting self care ADL; stridor; endoscopic intervention indicated (e.g., stent, laser) YH, MW Grade 3 laryngeal stenosis AE CTCAE: E13430 OAE:0002883 a laryngopharyngeal dysesthesia AE that has moderate symptoms; mild anxiety, but no dyspnea; short duration of observation and or anxiolytic indicated; limiting instrumental ADL YH, MW Grade 2 laryngopharyngeal dysesthesia AE CTCAE: E13435 OAE:0002884 a laryngopharyngeal dysesthesia AE that has severe symptoms; dyspnea and swallowing difficulty; limiting self care ADL YH, MW Grade 3 laryngopharyngeal dysesthesia AE CTCAE: E13436 OAE:0002885 a laryngospasm AE that has transient episode; intervention not indicated YH, MW Grade 2 laryngospasm AE CTCAE: E13440 OAE:0002886 a laryngospasm AE that has recurrent episodes; noninvasive intervention indicated (e.g., breathing technique, pressure point massage) YH, MW Grade 3 laryngospasm AE CTCAE: E13441 OAE:0002887 a laryngospasm AE that has persistent or severe episodes associated with syncope; urgent intervention indicated (e.g., fiberoptic laryngoscopy, intubation, botox injection) YH, MW Grade 4 laryngospasm AE CTCAE: E13442 OAE:0002888 a pharyngeal fistula AE that has symptomatic; tube thoracostomy or medical intervention indicated; limiting instrumental ADL YH, MW Grade 2 pharyngeal fistula AE CTCAE: E13456 OAE:0002889 a pharyngeal fistula AE that has severe symptoms; limiting self care ADL; endoscopic or operative intervention indicated (e.g., stent or primary closure) YH, MW Grade 3 pharyngeal fistula AE CTCAE: E13457 OAE:0002890 a pharyngeal mucositis AE that has endoscopic findings only; minimal symptoms with normal oral intake; mild pain but analgesics not indicated YH, MW Grade 1 pharyngeal mucositis AE CTCAE: E13467 OAE:0002891 a pharyngeal mucositis AE that has moderate pain and analgesics indicated; altered oral intake; limiting instrumental ADL YH, MW Grade 2 pharyngeal mucositis AE CTCAE: E13468 OAE:0002892 a pharyngeal mucositis AE that has severe pain; unable to adequately aliment or hydrate orally; limiting self care ADL YH, MW Grade 3 pharyngeal mucositis AE CTCAE: E13469 OAE:0002893 a pharyngeal necrosis AE that has inability to aliment adequately by GI tract; tube feeding or TPN indicated; radiologic, endoscopic, or operative intervention indicated YH, MW Grade 3 pharyngeal necrosis AE CTCAE: E13473 OAE:0002894 a pharyngeal stenosis AE that has symptomatic (e.g., noisy airway breathing), but causing no respiratory distress; medical management indicated (e.g., steroids); limiting instrumental ADL YH, MW Grade 2 pharyngeal stenosis AE CTCAE: E13478 OAE:0002895 a pharyngeal stenosis AE that has limiting self care ADL; stridor; endoscopic intervention indicated (e.g., stent, laser) YH, MW Grade 3 pharyngeal stenosis AE CTCAE: E13479 OAE:0002896 a pharyngeal stenosis AE that has life-threatening airway compromise; urgent intervention indicated (e.g., tracheotomy or intubation) YH, MW Grade 4 pharyngeal stenosis AE CTCAE: E13480 OAE:0002897 a pulmonary fistula AE that has symptomatic; tube thoracostomy or medical management indicated; limiting instrumental ADL YH, MW Grade 2 pulmonary fistula AE CTCAE: E13535 OAE:0002898 a pulmonary fistula AE that has limiting self care ADL; endoscopic stenting or operative intervention indicated YH, MW Grade 3 pulmonary fistula AE CTCAE: E13536 OAE:0002899 a retinoic acid syndrome AE that has fluid retention; <3 kg of weight gain; intervention with fluid restriction and/or diuretics indicated YH, MW Grade 1 retinoic acid syndrome AE CTCAE: E13555 OAE:0002904 a tracheal fistula AE that has symptomatic; tube thoracostomy or medical intervention indicated; limiting instrumental ADL YH, MW Grade 2 tracheal fistula AE CTCAE: E13585 OAE:0002905 a tracheal fistula AE that has severe symptoms; limiting self care ADL; endoscopic or operative intervention indicated (e.g., stent or primary closure) YH, MW Grade 3 tracheal fistula AE CTCAE: E13586 OAE:0002906 a tracheal fistula AE that has life-threatening consequences; urgent operative intervention indicated (e.g., thoracoplasty, chronic open drainage or multiple thoracotomies) YH, MW Grade 4 tracheal fistula AE CTCAE: E13587 OAE:0002907 a tracheal mucositis AE that has endoscopic findings only; minimal hemoptysis, pain, or respiratory symptoms YH, MW Grade 1 tracheal mucositis AE CTCAE: E13590 OAE:0002908 a tracheal mucositis AE that has severe pain; hemorrhage or respiratory symptoms; limiting self care ADL YH, MW Grade 3 tracheal mucositis AE CTCAE: E13592 OAE:0002909 a tracheal stenosis AE that has symptomatic (e.g., noisy airway breathing), but causing no respiratory distress; medical management indicated (e.g., steroids) YH, MW Grade 2 tracheal stenosis AE CTCAE: E13597 OAE:0002910 a tracheal stenosis AE that has stridor or respiratory distress limiting self care ADL; endoscopic intervention indicated (e.g., stent, laser) YH, MW Grade 3 tracheal stenosis AE CTCAE: E13598 OAE:0002911 a tracheal stenosis AE that has life-threatening airway compromise; urgent intervention indicated (e.g., tracheotomy or intubation) YH, MW Grade 4 tracheal stenosis AE CTCAE: E13599 OAE:0002912 an azoospermia AE that has absence of sperm in ejaculate YH, MW Grade 3 azoospermia AE CTCAE: E13068 OAE:0002913 A breast atrophy AE that has asymmetry >1/3 of breast volume; severe atrophy YH, MW Grade 3 breast atrophy AE CTCAE: E13072 OAE:0002914 an ejaculation disorder AE that has diminished ejaculation YH, MW Grade 1 ejaculation disorder AE CTCAE: E13086 OAE:0002915 an ejaculation disorder AE that has anejaculation or retrograde ejaculation YH, MW Grade 2 ejaculation disorder AE CTCAE: E13087 OAE:0002916 a genital edema AE that has mild swelling or obscuration of anatomic architecture on close inspection YH, MW Grade 1 genital edema AE CTCAE: E13112 OAE:0002917 a genital edema AE that has readily apparent obscuration of anatomic architecture; obliteration of skin folds; readily apparent deviation from normal anatomic contour YH, MW Grade 2 genital edema AE CTCAE: E13113 OAE:0002918 a genital edema AE that has lymphorrhea; gross deviation from normal anatomic contour; limiting self care ADL YH, MW Grade 3 genital edema AE CTCAE: E13114 OAE:0002919 a gynecomastia AE that has asymptomatic breast enlargement YH, MW Grade 1 gynecomastia AE CTCAE: E13116 OAE:0002920 a gynecomastia AE that has symptomatic (e.g., pain or psychosocial impact) YH, MW Grade 2 gynecomastia AE CTCAE: E13117 OAE:0002921 a hematosalpinx AE that has minimal bleeding identified on imaging study or laparoscopy; intervention not indicated YH, MW Grade 1 hematosalpinx AE CTCAE: E13120 OAE:0002922 an irregular menstruation AE that has intermittent menses with skipped menses for no more than 1 to 3 months YH, MW Grade 1 irregular menstruation AE CTCAE: E13126 OAE:0002923 an irregular menstruation AE that has intermittent menses with skipped menses for more than 4 to 6 months YH, MW Grade 2 irregular menstruation AE CTCAE: E13127 OAE:0002924 an irregular menstruation AE that has persistent amenorrhea for more than 6 months YH, MW Grade 3 irregular menstruation AE CTCAE: E13128 OAE:0002925 a lactation disorder AE that has mild changes in lactation, not significantly affecting production or expression of breast milk YH, MW Grade 1 lactation disorder AE CTCAE: E13130 OAE:0002926 a lactation disorder AE that has changes in lactation, significantly affecting breast production or expression of breast milk YH, MW Grade 2 lactation disorder AE CTCAE: E13131 OAE:0002927 a nipple deformity AE that has asymptomatic; asymmetry with slight retraction and/or thickening of the nipple areolar complex YH, MW Grade 1 nipple deformity AE CTCAE: E13139 OAE:0002928 a nipple deformity AE that has symptomatic; asymmetry of nipple areolar complex with moderate retraction and/or thickening of the nipple areolar complex YH, MW Grade 2 nipple deformity AE CTCAE: E13140 OAE:0002929 an oligospermia AE requires sperm concentration >48 million/mL or motility >68% YH, MW Grade 1 oligospermia AE CTCAE: E13142 OAE:0002930 an oligospermia AE requires sperm concentration 13 - 48 million/mL or motility 32 - 68% YH, MW Grade 2 oligospermia AE CTCAE: E13143 OAE:0002931 an oligospermia AE requires sperm concentration <13 million/mL or motility <32% YH, MW Grade 3 oligospermia AE CTCAE: E13144 OAE:0002932 a testicular disorder AE that has symptomatic but not interfering with urination or sexual activities; intervention not indicated; limiting instrumental ADL YH, MW Grade 2 testicular disorder AE CTCAE: E13217 OAE:0002933 a testicular disorder AE that has severe symptoms; interfering with urination or sexual function; limiting self care ADL; intervention indicated YH, MW Grade 3 testicular disorder AE CTCAE: E13218 OAE:0002934 a vaginal discharge AE that has mild vaginal discharge (greater than baseline for patient) YH, MW Grade 1 vaginal discharge AE CTCAE: E13252 OAE:0002935 a vaginal discharge AE that has moderate to heavy vaginal discharge; use of perineal pad or tampon indicated YH, MW Grade 2 vaginal discharge AE CTCAE: E13253 OAE:0002936 a bladder spasm AE that has antispasmodics indicated YH, MW Grade 2 bladder spasm AE CTCAE: E12986 OAE:0002937 a bladder spasm AE that has hospitalization indicated YH, MW Grade 3 bladder spasm AE CTCAE: E12987 OAE:0002938 a chronic kidney disease AE that requires eGFR (estimated Glomerular Filtration Rate) or CrCl (creatinine clearance) <LLN - 60 ml/min/1.73 m2 or proteinuria 2+ present; urine protein/creatinine >0.5 YH, MW Grade 1 chronic kidney disease AE CTCAE: E12989 OAE:0002939 a chronic kidney disease AE that requires eGFR or CrCl 59 - 30 ml/min/1.73 m2 YH, MW Grade 2 chronic kidney disease AE CTCAE: E12990 OAE:0002940 a chronic kidney disease AE that requires eGFR or CrCl 29 - 15 ml/min/1.73 m2 YH, MW Grade 3 chronic kidney disease AE CTCAE: E12991 OAE:0002941 a chronic kidney disease AE that requires eGFR or CrCl <15 ml/min/1.73 m2; dialysis or renal transplant indicated YH, MW Grade 4 chronic kidney disease AE CTCAE: E12992 OAE:0002942 a cystitis noninfective AE that has microscopic hematuria; minimal increase in frequency, urgency, dysuria, or nocturia; new onset of incontinence YH, MW Grade 1 cystitis noninfective AE CTCAE: E12995 OAE:0002943 a cystitis noninfective AE that has moderate hematuria; moderate increase in frequency, urgency, dysuria, nocturia or incontinence; urinary catheter placement or bladder irrigation indicated; limiting instrumental ADL YH, MW Grade 2 cystitis noninfective AE CTCAE: E12996 OAE:0002944 a cystitis noninfective AE that has gross hematuria; transfusion, IV medications or hospitalization indicated; elective endoscopic, radiologic or operative intervention indicated YH, MW Grade 3 cystitis noninfective AE CTCAE: E12997 OAE:0002945 a proteinuria AE that requires 1+ proteinuria; urinary protein <1.0 g/24 hrs YH, MW Grade 1 proteinuria AE CTCAE: E13009 OAE:0002946 a proteinuria AE that requires YH, MW Grade 2 proteinuria AE CTCAE: E13010 OAE:0002947 a proteinuria AE that requires YH, MW Grade 3 proteinuria AE CTCAE: E13011 OAE:0002948 a renal calculi AE that has asymptomatic or mild symptoms; occasional use of nonprescription analgesics indicated YH, MW Grade 1 renal calculi AE CTCAE: E13019 OAE:0002949 a renal calculi AE that has symptomatic; oral antiemetics indicated; around the clock nonprescription analgesics or any oral narcotic analgesics indicated YH, MW Grade 2 renal calculi AE CTCAE: E13020 OAE:0002950 a renal calculi AE that has hospitalization indicated; IV intervention (e.g., analgesics, antiemetics); elective endoscopic or radiologic intervention indicated YH, MW Grade 3 renal calculi AE CTCAE: E13021 OAE:0002951 an urinary fistula AE that has noninvasive intervention indicated; urinary or suprapubic catheter placement indicated YH, MW Grade 2 urinary fistula AE CTCAE: E13035 OAE:0002952 an urinary fistula AE that has limiting self care ADL; elective radiologic, endoscopic or operative intervention indicated; permanent urinary diversion indicated YH, MW Grade 3 urinary fistula AE CTCAE: E13036 OAE:0002953 an urinary tract obstruction AE that has symptomatic but no hydronephrosis, sepsis or renal dysfunction; urethral dilation, urinary or suprapubic catheter indicated YH, MW Grade 2 urinary tract obstruction AE CTCAE: E13054 OAE:0002954 an urinary tract obstruction AE that has symptomatic and altered organ function (e.g., hydronephrosis, or renal dysfunction); elective radiologic, endoscopic or operative intervention indicated YH, MW Grade 3 urinary tract obstruction AE CTCAE: E13055 OAE:0002955 a mania AE that has mild manic symptoms (e.g., elevated mood, rapid thoughts, rapid speech, decreased need for sleep) YH, MW Grade 1 mania AE CTCAE: E12937 OAE:0002956 a mania AE that has moderate manic symptoms (e.g., relationship and work difficulties; poor hygiene) YH, MW Grade 2 mania AE CTCAE: E12938 OAE:0002957 a mania AE that has severe manic symptoms (e.g., hypomania; major sexual or financial indiscretions); hospitalization not indicated YH, MW Grade 3 mania AE CTCAE: E12939 OAE:0002958 a fetal growth retardation AE that has <10% percentile of weight for gestational age YH, MW Grade 2 fetal growth retardation AE CTCAE: E12858 OAE:0002959 a fetal growth retardation AE that has <5% percentile of weight for gestational age YH, MW Grade 3 fetal growth retardation AE CTCAE: E12859 OAE:0002960 a fetal growth retardation AE that has <1% percentile of weight for gestational age YH, MW Grade 4 fetal growth retardation AE CTCAE: E12860 OAE:0002961 a premature delivery AE that has delivery of a liveborn infant at >34 to 37 weeks gestation YH, MW Grade 1 premature delivery AE CTCAE: E12868 OAE:0002962 a premature delivery AE that has delivery of a liveborn infant at >28 to 34 weeks gestation YH, MW Grade 2 premature delivery AE CTCAE: E12869 OAE:0002963 a premature delivery AE that has delivery of a liveborn infant at 24 to 28 weeks gestation YH, MW Grade 3 premature delivery AE CTCAE: E12870 OAE:0002964 a premature delivery AE that has delivery of a liveborn infant at 24 weeks of gestation or less YH, MW Grade 4 premature delivery AE CTCAE: E12871 OAE:0002965 a spasticity AE that has mild or slight increase in muscle tone YH, MW Grade 1 spasticity AE CTCAE: E12821 OAE:0002966 a spasticity AE that has moderate increase in muscle tone and increase in resistance through range of motion YH, MW Grade 2 spasticity AE CTCAE: E12822 OAE:0002967 a spasticity AE that has severe increase in muscle tone and increase in resistance through range of motion YH, MW Grade 3 spasticity AE CTCAE: E12823 OAE:0002968 a spasticity AE that has life-threatening; unable to move active or passive range of motion YH, MW Grade 4 spasticity AE CTCAE: E12824 OAE:0002969 a treatment related secondary malignancy AE that has non life-threatening secondary malignancy YH, MW Grade 3 treatment related secondary malignancy AE CTCAE: E12562 OAE:0002970 a treatment related secondary malignancy AE that has acute life-threatening secondary malignancy; blast crisis in leukemia YH, MW Grade 4 treatment related secondary malignancy AE CTCAE: E12563 OAE:0002971 an abdominal soft tissue necrosis AE that has local wound care; medical intervention indicated (e.g., dressings or topical medications) YH, MW Grade 2 abdominal soft tissue necrosis AE CTCAE: E12370 OAE:0002972 an abdominal soft tissue necrosis AE that has operative debridement or other invasive intervention indicated (e.g. tissue reconstruction, flap or grafting) YH, MW Grade 3 abdominal soft tissue necrosis AE CTCAE: E12371 OAE:0002973 a fibrosis deep connective tissue AE that has mild induration, able to move skin parallel to plane (sliding) and perpendicular to skin (pinching up) YH, MW Grade 1 fibrosis deep connective tissue AE CTCAE: E12409 OAE:0002974 a fibrosis deep connective tissue AE that has moderate induration, able to slide skin, unable to pinch skin; limiting instrumental ADL YH, MW Grade 2 fibrosis deep connective tissue AE CTCAE: E12410 OAE:0002975 a fibrosis deep connective tissue AE that has severe induration; unable to slide or pinch skin; limiting joint or orifice movement (e.g. mouth, anus); limiting self care ADL YH, MW Grade 3 fibrosis deep connective tissue AE CTCAE: E12411 OAE:0002976 a fibrosis deep connective tissue AE that has generalized; associated with signs or symptoms of impaired breathing or feeding YH, MW Grade 4 fibrosis deep connective tissue AE CTCAE: E12412 OAE:0002977 a growth suppression AE that has reduction in growth velocity by 10 - 29% ideally measured over the period of a year YH, MW Grade 1 growth suppression AE CTCAE: E12423 OAE:0002978 a growth suppression AE that has reduction in growth velocity by 30 - 49% ideally measured over the period of a year or 0 - 49% reduction in growth from the baseline growth curve YH, MW Grade 2 growth suppression AE CTCAE: E12424 OAE:0002979 a growth suppression AE that has reduction in growth velocity of >=50% ideally measured over the period of a year YH, MW Grade 3 growth suppression AE CTCAE: E12425 OAE:0002980 a head soft tissue necrosis AE that has local wound care; medical intervention indicated (e.g., dressings or topical medications) YH, MW Grade 2 head soft tissue necrosis AE CTCAE: E12427 OAE:0002981 a head soft tissue necrosis AE that has operative debridement or other invasive intervention indicated (e.g., tissue reconstruction, flap or grafting) YH, MW Grade 3 head soft tissue necrosis AE CTCAE: E12428 OAE:0002982 a joint range of motion decreased cervical spine AE that has mild restriction of rotation or flexion between 60 - 70 degrees YH, MW Grade 1 joint range of motion decreased cervical spine AE CTCAE: E12440 OAE:0002983 a joint range of motion decreased cervical spine AE that has rotation <60 degrees to right or left; <60 degrees of flexion YH, MW Grade 2 joint range of motion decreased cervical spine AE CTCAE: E12441 OAE:0002984 a joint range of motion decreased cervical spine AE that has ankylosed/fused over multiple segments with no C-spine rotation YH, MW Grade 3 joint range of motion decreased cervical spine AE CTCAE: E12442 OAE:0002985 a joint range of motion decreased lumbar spine AE that has stiffness; difficulty bending to the floor to pick up a very light object but able to do athletic activity YH, MW Grade 1 joint range of motion decreased lumbar spine AE CTCAE: E12444 OAE:0002986 a joint range of motion decreased lumbar spine AE that has pain with range of motion (ROM) in lumbar spine; requires a reaching aid to pick up a very light object from the floor YH, MW Grade 2 joint range of motion decreased lumbar spine AE CTCAE: E12445 OAE:0002987 a joint range of motion decreased lumbar spine AE that requires <50% lumbar spine flexion; associated with symptoms of ankylosis or fused over multiple segments with no L-spine flexion (e.g., unable to reach to floor to pick up a very light object) YH, MW Grade 3 joint range of motion decreased lumbar spine AE CTCAE: E12446 OAE:0002988 a neck soft tissue necrosis AE that has local wound care; medical intervention indicated (e.g., dressings or topical medications) YH, MW Grade 2 neck soft tissue necrosis AE CTCAE: E12498 OAE:0002989 a neck soft tissue necrosis AE that has operative debridement or other invasive intervention indicated (e.g., tissue reconstruction, flap or grafting) YH, MW Grade 3 neck soft tissue necrosis AE CTCAE: E12499 OAE:0002990 a pelvic soft tissue necrosis AE that has local wound care; medical intervention indicated (e.g., dressings or topical medications) YH, MW Grade 2 pelvic soft tissue necrosis AE CTCAE: E12517 OAE:0002991 a pelvic soft tissue necrosis AE that has operative debridement or other invasive intervention indicated (e.g., tissue reconstruction, flap or grafting) YH, MW Grade 3 pelvic soft tissue necrosis AE CTCAE: E12518 OAE:0002992 a scoliosis AE that requires <20 degrees; clinically undetectable YH, MW Grade 1 scoliosis AE CTCAE: E12522 OAE:0002993 a scoliosis AE that requires >20 - 45 degrees; visible by forward flexion; limiting instrumental ADL YH, MW Grade 2 scoliosis AE CTCAE: E12523 OAE:0002994 a scoliosis AE that requires >45 degrees; scapular prominence in forward flexion; operative intervention indicated; limiting self care ADL; disabling YH, MW Grade 3 scoliosis AE CTCAE: E12524 OAE:0002995 a soft tissue necrosis lower limb AE that has local wound care; medical intervention indicated (e.g., dressings or topical medications) YH, MW Grade 2 soft tissue necrosis lower limb AE CTCAE: E12526 OAE:0002996 a soft tissue necrosis lower limb AE that has operative debridement or other invasive intervention indicated (e.g., tissue reconstruction, flap or grafting) YH, MW Grade 3 soft tissue necrosis lower limb AE CTCAE: E12527 OAE:0002997 a soft tissue necrosis upper limb AE that has local wound care; medical intervention indicated (e.g., dressings or topical medications) YH, MW Grade 2 soft tissue necrosis upper limb AE CTCAE: E12531 OAE:0002998 a soft tissue necrosis upper limb AE that has operative debridement or other invasive intervention indicated (e.g., tissue reconstruction, flap or grafting) YH, MW Grade 3 soft tissue necrosis upper limb AE CTCAE: E12532 OAE:0002999 a Superficial soft tissue fibrosis AE that has mild induration, able to move skin parallel to plane (sliding) and perpendicular to skin (pinching up) YH, MW Grade 1 superficial soft tissue fibrosis AE CTCAE: E12536 OAE:0003000 a Superficial soft tissue fibrosis AE that has moderate induration, able to slide skin, unable to pinch skin; limiting instrumental ADL YH, MW Grade 2 superficial soft tissue fibrosis AE CTCAE: E12537 OAE:0003001 a Superficial soft tissue fibrosis AE that has severe induration; unable to slide or pinch skin; limiting joint or orifice movement (e.g., mouth, anus); limiting self care ADL YH, MW Grade 3 superficial soft tissue fibrosis AE CTCAE: E12538 OAE:0003002 a superficial soft tissue fibrosis AE that has generalized; associated with signs or symptoms of impaired breathing or feeding YH, MW Grade 4 superficial soft tissue fibrosis AE CTCAE: E12539 OAE:0003003 a trismus AE that has decreased ROM (range of motion) without impaired eating YH, MW Grade 1 trismus AE CTCAE: E12542 OAE:0003004 a trismus AE that has decreased ROM requiring small bites, soft foods or purees YH, MW Grade 2 trismus AE CTCAE: E12543 OAE:0003005 a trismus AE that has decreased ROM with inability to adequately aliment or hydrate orally YH, MW Grade 3 trismus AE CTCAE: E12544 OAE:0003006 An unequal limb length AE that has mild length discrepancy <2 cm YH, MW Grade 1 unequal limb length AE CTCAE: E12546 OAE:0003007 An unequal limb length AE that has moderate length discrepancy 2 - 5 cm; shoe lift indicated; limiting instrumental ADL YH, MW Grade 2 unequal limb length AE CTCAE: E12547 OAE:0003008 An unequal limb length AE that has severe length discrepancy >5 cm; limiting self care ADL; disabling; operative intervention indicated YH, MW Grade 3 unequal limb length AE CTCAE: E12548 OAE:0003009 a alkalosis AE that requires pH >normal, but <=7.5 YH, MW Grade 1 alkalosis AE CTCAE: E12248 OAE:0003010 a alkalosis AE that requires pH >7.5 YH, MW Grade 3 alkalosis AE CTCAE: E12249 OAE:0003011 a glucose intolerance AE that has symptomatic; dietary modification or oral agent indicated YH, MW Grade 2 glucose intolerance AE CTCAE: E12266 OAE:0003012 a glucose intolerance AE that has severe symptoms; insulin indicated YH, MW Grade 3 glucose intolerance AE CTCAE: E12267 OAE:0003013 a hypermagnesemia AE that requires >ULN - 3.0 mg/dL; >ULN - 1.23 mmol/L YH, MW Grade 1 hypermagnesemia AE CTCAE: E12289 OAE:0003014 a hypermagnesemia AE that requires >3.0 - 8.0 mg/dL; >1.23 - 3.30 mmol/L YH, MW Grade 3 hypermagnesemia AE CTCAE: E12290 OAE:0003015 a hypermagnesemia AE that requires >8.0 mg/dL; >3.30 mmol/L; life-threatening consequences YH, MW Grade 4 hypermagnesemia AE CTCAE: E12291 OAE:0003016 a hypernatremia AE that requires >ULN - 150 mmol/L YH, MW Grade 1 hypernatremia AE CTCAE: E12294 OAE:0003017 a hypernatremia AE that requires >150 - 155 mmol/L YH, MW Grade 2 hypernatremia AE CTCAE: E12295 OAE:0003018 a hypernatremia AE that requires >155 - 160 mmol/L; hospitalization indicated YH, MW Grade 3 hypernatremia AE CTCAE: E12296 OAE:0003019 a hypernatremia AE that requires >160 mmol/L; life-threatening consequences YH, MW Grade 4 hypernatremia AE CTCAE: E12297 OAE:0003020 a hypokalemia AE that requires <LLN - 3.0 mmol/L YH, MW Grade 1 hypokalemia AE CTCAE: E12328 OAE:0003021 a hypokalemia AE that requires <LLN - 3.0 mmol/L; symptomatic; intervention indicated YH, MW Grade 2 hypokalemia AE CTCAE: E12329 OAE:0003022 a hypokalemia AE that requires <3.0 - 2.5 mmol/L; hospitalization indicated YH, MW Grade 3 hypokalemia AE CTCAE: E12330 OAE:0003023 a hypokalemia AE that requires <2.5 mmol/L; life-threatening consequences YH, MW Grade 4 hypokalemia AE CTCAE: E12331 OAE:0003024 a hyponatremia AE that requires <LLN - 130 mmol/L YH, MW Grade 1 hyponatremia AE CTCAE: E12340 OAE:0003025 a hyponatremia AE that requires <130 - 120 mmol/L YH, MW Grade 3 hyponatremia AE CTCAE: E12341 OAE:0003026 a hyponatremia AE that requires <120 mmol/L; life-threatening consequences YH, MW Grade 4 hyponatremia AE CTCAE: E12342 OAE:0003027 an obesity AE that requires BMI 25 - 29.9 kg/m2 YH, MW Grade 2 obesity AE CTCAE: E12362 OAE:0003028 an obesity AE that requires BMI 30 - 39.9 kg/m2 YH, MW Grade 3 obesity AE CTCAE: E12363 OAE:0003029 an obesity AE that requires BMI >=40 kg/m2 YH, MW Grade 4 obesity AE CTCAE: E12364 OAE:0003030 a flushing AE that has symptomatic, associated with hypotension and/or tachycardia; limiting self care ADL YH, MW Grade 3 flushing AE CTCAE: E13774 OAE:0003031 a hematoma AE that requires minimally invasive evacuation or aspiration YH, MW Grade 2 hematoma AE CTCAE: E13777 OAE:0003032 a hematoma AE that requires transfusion, radiologic, endoscopic, or elective operative intervention YH, MW Grade 3 hematoma AE CTCAE: E13778 OAE:0003033 an hypertension AE that has prehypertension (systolic BP 120 - 139 mm Hg or diastolic BP 80 - 89 mm Hg) YH, MW Grade 1 hypertension AE CTCAE: E13786 OAE:0003034 an hypertension AE that for Adult: has stage 1 hypertension (systolic BP 140 - 159 mm Hg or diastolic BP 90 - 99 mm Hg); medical intervention indicated; recurrent or persistent (>=24 hrs); symptomatic increase by >20 mm Hg (diastolic) or to >140/90 mm Hg if previously WNL; monotherapy indicated; for Pediatric: recurrent or persistent (>=24 hrs) BP >ULN; monotherapy indicated. YH, MW Grade 2 hypertension AE CTCAE: E13787 OAE:0003035 an hypertension AE that for Adult has Stage 2 hypertension (systolic BP >=160 mm Hg or diastolic BP >=100 mm Hg); medical intervention indicated; more than one drug or more intensive therapy than previously used indicated; for Pediatric: Same as adult. YH, MW Grade 3 hypertension AE CTCAE: E13788 OAE:0003036 an hypertension AE that for Adult has life-threatening consequences (e.g., malignant hypertension, transient or permanent neurologic deficit, hypertensive crisis); urgent intervention indicated; for Pediatric: Same as adult YH, MW Grade 4 hypertension AE CTCAE: E13789 OAE:0003037 a peripheral ischaemia AE that has brief (<24 hrs) episode of ischemia managed non-surgically and without permanent deficit YH, MW Grade 2 peripheral ischemia AE CTCAE: E13811 OAE:0003038 a peripheral ischaemia AE that has a recurring or prolonged (>=24 hrs) and/or invasive intervention indicated YH, MW Grade 3 peripheral ischemia AE CTCAE: E13812 OAE:0003039 a vasculitis AE that shows severe symptoms, medical intervention indicated (e.g., steroids) YH, MW Grade 3 vasculitis AE CTCAE: E13840 OAE:0003040 a vasculitis AE that shows threatening; evidence of peripheral or visceral ischemia; urgent intervention indicated YH, MW Grade 4 vasculitis AE CTCAE: E13841 OAE:0003041 an alopecia AE that has hair loss of <50% of normal for that individual that is not obvious from a distance but only on close inspection; a different hair style may be required to cover the hair loss but it does not require a wig or hair piece to camouflage YH, MW Grade 1 alopecia AE CTCAE: E13612 OAE:0003042 an alopecia AE that has hair loss of >=50% normal for that individual that is readily apparent to others; a wig or hair piece is necessary if the patient desires to completely camouflage the hair loss; associated with psychosocial impact YH, MW Grade 2 alopecia AE CTCAE: E13613 OAE:0003043 a dry skin AE that is coverying <10% BSA and no associated erythema or pruritus YH, MW Grade 1 dry skin AE CTCAE: E13624 OAE:0003044 a dry skin AE that is coverying 10 - 30% BSA and associated with erythema or pruritus; limiting instrumental ADL YH, MW Grade 2 dry skin AE CTCAE: E13625 OAE:0003045 a dry skin AE that is coverying >30% BSA and associated with pruritus; limiting self care ADL YH, MW Grade 3 dry skin AE CTCAE: E13626 OAE:0003046 an erythema multiforme AE that has target lesions covering <10% BSA and not associated with skin tenderness YH, MW Grade 1 erythema multiforme AE CTCAE: E13628 OAE:0003047 an erythema multiforme AE that has target lesions covering 10 - 30% BSA and associated with skin tenderness YH, MW Grade 2 erythema multiforme AE CTCAE: E13629 OAE:0003048 an erythema multiforme AE that has target lesions covering >30% BSA and associated with oral or genital erosions YH, MW Grade 3 erythema multiforme AE CTCAE: E13630 OAE:0003049 an erythema multiforme AE that has target lesions covering >30% BSA; associated with fluid or electrolyte abnormalities; ICU care or burn unit indicated YH, MW Grade 4 erythema multiforme AE CTCAE: E13631 OAE:0003050 a hyperhidros AE that shows limited to one site (palms, soles, or axillae); self care interventions YH, MW Grade 1 hyperhidrosis AE CTCAE: E13646 OAE:0003051 a hyperhidros AE that has Involving >1 site; patient seeks medical intervention; associated with psychosocial impact YH, MW Grade 2 hyperhidrosis AE CTCAE: E13647 OAE:0003052 a hyperhidros AE that has Generalized involving sites other than palms, soles, or axillae; associated with electrolyte/hemodynamic imbalance YH, MW Grade 3 hyperhidrosis AE CTCAE: E13648 OAE:0003053 a palmar-plantar erythrodysesthesia syndrome AE that has minimal skin changes or dermatitis (e.g., erythema, edema, or hyperkeratosis) without pain YH, MW Grade 1 palmar-plantar erythrodysesthesia syndrome AE CTCAE: E13673 OAE:0003054 a palmar-plantar erythrodysesthesia syndrome AE that has skin changes (e.g., peeling, blisters, bleeding, edema, or hyperkeratosis) with pain; limiting instrumental ADL YH, MW Grade 2 palmar-plantar erythrodysesthesia syndrome AE CTCAE: E13674 OAE:0003055 a palmar-plantar erythrodysesthesia syndrome AE that has severe skin changes (e.g., peeling, blisters, bleeding, edema, or hyperkeratosis) with pain; limiting self care ADL YH, MW Grade 3 palmar-plantar erythrodysesthesia syndrome AE CTCAE: E13675 OAE:0003056 a periorbital edema AE that has soft or non-pitting YH, MW Grade 1 periorbital edema AE CTCAE: E13677 OAE:0003057 a periorbital edema AE that has indurated or pitting edema; topical intervention indicated YH, MW Grade 2 periorbital edema AE CTCAE: E13678 OAE:0003058 a periorbital edema AE that has edema associated with visual disturbance; increased intraocular pressure, glaucoma or retinal hemorrhage; optic neuritis; diuretics indicated; operative intervention indicated YH, MW Grade 3 periorbital edema AE CTCAE: E13679 OAE:0003059 a photosensitivity reaction AE that has painless erythema and erythema covering <10% BSA YH, MW Grade 1 photosensitivity AE CTCAE: E13681 OAE:0003060 a photosensitivity reaction AE that has tender erythema covering 10 - 30% BSA YH, MW Grade 2 photosensitivity AE CTCAE: E13682 OAE:0003061 a photosensitivity reaction AE that has erythema covering >30% BSA and erythema with blistering; photosensitivity; oral corticosteroid therapy indicated; pain control indicated (e.g., narcotics or NSAIDs) YH, MW Grade 3 photosensitivity AE CTCAE: E13683 OAE:0003062 a pruritus AE that has mild or localized; topical intervention indicated YH, MW Grade 1 pruritus AE CTCAE: E13687 OAE:0003063 a pruritus AE that has intense or widespread; intermittent; skin changes from scratching (e.g., edema, papulation, excoriations, lichenification, oozing/crusts); oral intervention indicated; limiting instrumental ADL YH, MW Grade 2 pruritus AE CTCAE: E13688 OAE:0003064 a pruritus AE that has intense or widespread; constant; limiting self care ADL or sleep; oral corticosteroid or immunosuppressive therapy indicated YH, MW Grade 3 pruritus AE CTCAE: E13689 OAE:0003065 a purpura AE that has combined area of lesions covering <10% BSA YH, MW Grade 1 purpura AE CTCAE: E13691 OAE:0003066 a purpura AE that has combined area of lesions covering 10 - 30% BSA; bleeding with trauma YH, MW Grade 2 purpura AE CTCAE: E13692 OAE:0003067 a purpura AE that has combined area of lesions covering >30% BSA; spontaneous bleeding YH, MW Grade 3 purpura AE CTCAE: E13693 OAE:0003068 a skin atrophy AE that has covering <10% BSA; associated with telangiectasias or changes in skin color YH, MW Grade 1 skin atrophy AE CTCAE: E13715 OAE:0003069 a skin atrophy AE that has covering 10 - 30% BSA; associated with striae or adnexal structure loss YH, MW Grade 2 skin atrophy AE CTCAE: E13716 OAE:0003070 a skin atrophy AE that has covering >30% BSA; associated with ulceration YH, MW Grade 3 skin atrophy AE CTCAE: E13717 OAE:0003071 a skin hyperpigmentation AE that has hyperpigmentation covering <10% BSA; no psychosocial impact YH, MW Grade 1 skin hyperpigmentation AE CTCAE: E13719 OAE:0003072 a skin hyperpigmentation AE that has hyperpigmentation covering >10% BSA; associated psychosocial impact YH, MW Grade 2 skin hyperpigmentation AE CTCAE: E13720 OAE:0003073 a skin hypopigmentation AE that has hypopigmentation or depigmentation covering <10% BSA; no psychosocial impact YH, MW Grade 1 skin hypopigmentation AE CTCAE: E13722 OAE:0003074 a skin hypopigmentation AE that has hypopigmentation or depigmentation covering >10% BSA; associated psychosocial impact YH, MW Grade 2 skin hypopigmentation AE CTCAE: E13723 OAE:0003075 a stevens-johnson syndrome AE that has skin sloughing covering <10% BSA with associated signs (e.g., erythema, purpura, epidermal detachment and mucous membrane detachment) YH, MW Grade 3 stevens-Johnson syndrome AE CTCAE: E13737 OAE:0003076 a stevens-johnson syndrome AE that has skin sloughing covering 10 - 30% BSA with associated signs (e.g., erythema, purpura, epidermal detachment and mucous membrane detachment) YH, MW Grade 4 stevens-Johnson syndrome AE CTCAE: E13738 OAE:0003077 a telangiectasia AE that has telangiectasias covering <10% BSA YH, MW Grade 1 telangiectasia AE CTCAE: E13741 OAE:0003078 a telangiectasia AE that has telangiectasias covering >10% BSA; associated with psychosocial impact YH, MW Grade 2 telangiectasia AE CTCAE: E13742 OAE:0003079 a toxic epidermal necrolysis AE that has skin sloughing covering >=30% BSA with associated symptoms (e.g., erythema, purpura, or epidermal detachment) YH, MW Grade 4 toxic epidermal necrolysis AE CTCAE: E13744 OAE:0003080 an urticaria AE that has urticarial lesions covering <10% BSA; topical intervention indicated YH, MW Grade 1 urticaria AE CTCAE: E13747 OAE:0003081 an urticaria AE that has urticarial lesions covering 10 - 30% BSA; oral intervention indicated YH, MW Grade 2 urticaria AE CTCAE: E13748 OAE:0003082 an urticaria AE that has urticariallesions covering >30% BSA; IV intervention indicated YH, MW Grade 3 urticaria AE CTCAE: E13749 OAE:0003083 an aspiration AE that has altered eating habits; coughing or choking episodes after eating or swallowing; medical intervention indicated (e.g., suction or oxygen) YH, MW Grade 2 aspiration AE CTCAE: E13312 OAE:0003084 an aspiration AE that has dyspnea and pneumonia symptoms (e.g., aspiration pneumonia); hospitalization indicated; unable to aliment orally YH, MW Grade 3 aspiration AE CTCAE: E13313 OAE:0003085 an atelectasis AE that has symptomatic (e.g., dyspnea, cough); medical intervention indicated (e.g., chest physiotherapy, suctioning); bronchoscopic suctioning YH, MW Grade 2 atelectasis AE CTCAE: E13318 OAE:0003086 an atelectasis AE that has oxygen indicated; hospitalization or elective operative intervention indicated (e.g., stent, laser) YH, MW Grade 3 atelectasis AE CTCAE: E13319 OAE:0003087 a chylothorax AE that has symptomatic; thoracentesis or tube drainage indicated YH, MW Grade 2 chylothorax AE CTCAE: E13360 OAE:0003088 a chylothorax AE that has severe symptoms; elective operative intervention indicated YH, MW Grade 3 chylothorax AE CTCAE: E13361 OAE:0003089 an epistaxis AE that has moderate symptoms; medical intervention indicated (e.g., nasal packing, cauterization; topical vasoconstrictors) YH, MW Grade 2 epistaxis AE CTCAE: E13376 OAE:0003090 a Hiccups AE that has interfering with sleep; limiting self care ADL YH, MW Grade 3 hiccups AE CTCAE: E13383 OAE:0003091 a hoarseness AE that has mild or intermittent voice change; fully understandable; self-resolves YH, MW Grade 1 hoarseness AE CTCAE: E13385 OAE:0003092 a hoarseness AE that has Moderate or persistent voice changes; may require occasional repetition but understandable on telephone; medical evaluation indicated YH, MW Grade 2 hoarseness AE CTCAE: E13386 OAE:0003093 a hoarseness AE that has severe voice changes including predominantly whispered speech YH, MW Grade 3 hoarseness AE CTCAE: E13387 OAE:0003094 a hypoxia AE that has decreased oxygen saturation with exercise (e.g., pulse oximeter <88%); intermittent supplemental oxygen YH, MW Grade 2 hypoxia AE CTCAE: E13389 OAE:0003095 a hypoxia AE that has decreased oxygen saturation at rest (e.g., pulse oximeter <88% or PaO2 <=55 mm Hg) YH, MW Grade 3 hypoxia AE CTCAE: E13390 OAE:0003096 a hypoxia AE that has life-threatening airway compromise; urgent intervention indicated (e.g., tracheotomy or intubation) YH, MW Grade 4 hypoxia AE CTCAE: E13391 OAE:0003097 a laryngeal edema AE that has stridor; respiratory distress; hospitalization indicated YH, MW Grade 3 laryngeal edema AE CTCAE: E13396 OAE:0003098 a laryngeal edema AE that has life-threatening airway compromise; urgent intervention indicated (e.g., tracheotomy or intubation) YH, MW Grade 4 laryngeal edema AE CTCAE: E13397 OAE:0003099 a pleural effusion AE that has symptomatic; intervention indicated (e.g., diuretics or limited therapeutic thoracentesis) YH, MW Grade 2 pleural effusion AE CTCAE: E13488 OAE:0003100 a pleural effusion AE that has symptomatic with respiratory distress and hypoxia; surgical intervention including chest tube or pleurodesis indicated YH, MW Grade 3 pleural effusion AE CTCAE: E13489 OAE:0003101 a pleural hemorrhage AE that has asymptomatic; mild hemorrhage confirmed by thoracentesis YH, MW Grade 1 pleural hemorrhage AE CTCAE: E13493 OAE:0003102 a pleural hemorrhage AE that has symptomatic or associated with pneumothorax; chest tube drainage indicated YH, MW Grade 2 pleural hemorrhage AE CTCAE: E13494 OAE:0003103 a pleural hemorrhage AE that has >1000 ml of blood evacuated; persistent bleeding (150-200 ml/hr for 2 - 4 hr); persistent transfusion indicated; elective operative intervention indicated YH, MW Grade 3 pleural hemorrhage AE CTCAE: E13495 OAE:0003104 a pneumonitis AE that has severe symptoms; limiting self care ADL; oxygen indicated YH, MW Grade 3 pneumonitis AE CTCAE: E13505 OAE:0003105 a pneumonitis AE that has life-threatening respiratory compromise; urgent intervention indicated (e.g., tracheotomy or intubation) YH, MW Grade 4 pneumonitis AE CTCAE: E13506 OAE:0003106 a pneumothorax AE that has symptomatic; intervention indicated (e.g., tube placement without sclerosis) YH, MW Grade 2 pneumothorax AE CTCAE: E13510 OAE:0003107 a pneumothorax AE that has sclerosis and/or operative intervention indicated; hospitalization indicated YH, MW Grade 3 pneumothorax AE CTCAE: E13511 OAE:0003108 a productive cough AE that has occasional/minimal production of sputum with cough YH, MW Grade 1 productive cough AE CTCAE: E13518 OAE:0003109 a productive cough AE that has moderate sputum production; limiting instrumental ADL YH, MW Grade 2 productive cough AE CTCAE: E13519 OAE:0003110 a productive cough AE that has persistent or copious production of sputum; limiting self care ADL YH, MW Grade 3 productive cough AE CTCAE: E13520 OAE:0003111 a pulmonary edema AE that has radiologic findings only; minimal dyspnea on exertion YH, MW Grade 1 pulmonary edema AE CTCAE: E13522 OAE:0003112 a pulmonary edema AE that has moderate dyspnea on exertion; medical intervention indicated; limiting instrumental ADL YH, MW Grade 2 pulmonary edema AE CTCAE: E13523 OAE:0003113 a pulmonary edema AE that has severe dyspnea or dyspnea at rest; oxygen indicated; limiting self care ADL YH, MW Grade 3 pulmonary edema AE CTCAE: E13524 OAE:0003114 a pulmonary edema AE that has life-threatening respiratory compromise; urgent intervention or intubation with ventilatory support indicated YH, MW Grade 4 pulmonary edema AE CTCAE: E13525 OAE:0003115 a pulmonary fibrosis AE that has mild hypoxemia; radiologic pulmonary fibrosis <25% of lung volume YH, MW Grade 1 pulmonary fibrosis AE CTCAE: E13528 OAE:0003116 a pulmonary fibrosis AE that has moderate hypoxemia; evidence of pulmonary hypertension; radiographic pulmonary fibrosis 25 - 50% YH, MW Grade 2 pulmonary fibrosis AE CTCAE: E13529 OAE:0003117 a pulmonary fibrosis AE that has severe hypoxemia; evidence of right-sided heart failure; radiographic pulmonary fibrosis >50 - 75% YH, MW Grade 3 pulmonary fibrosis AE CTCAE: E13530 OAE:0003118 a pulmonary fibrosis AE that has life-threatening consequences (e.g., hemodynamic/pulmonary complications); intubation with ventilatory support indicated; radiographic pulmonary fibrosis >75% with severe honeycombing YH, MW Grade 4 pulmonary fibrosis AE CTCAE: E13531 OAE:0003119 a pulmonary hypertension AE that has minimal dyspnea; findings on physical exam or other evaluation YH, MW Grade 1 pulmonary hypertension AE CTCAE: E13540 OAE:0003120 a pulmonary hypertension AE that has moderate dyspnea, cough; requiring evaluation by cardiac catheterization and medical intervention YH, MW Grade 2 pulmonary hypertension AE CTCAE: E13541 OAE:0003121 a pulmonary hypertension AE that has severe symptoms, associated with hypoxemia, right heart failure; oxygen indicated YH, MW Grade 3 pulmonary hypertension AE CTCAE: E13542 OAE:0003122 a pulmonary hypertension AE that has life-threatening airway consequences; urgent intervention indicated (e.g., tracheotomy or intubation) YH, MW Grade 4 pulmonary hypertension AE CTCAE: E13543 OAE:0003123 a sinus disorder AE that has asymptomatic mucosal crusting; blood-tinged secretions YH, MW Grade 1 sinus disorder AE CTCAE: E13561 OAE:0003124 a sinus disorder AE that has symptomatic stenosis or edema/narrowing interfering with airflow; limiting instrumental ADL YH, MW Grade 2 sinus disorder AE CTCAE: E13562 OAE:0003125 a sinus disorder AE that has stenosis with significant nasal obstruction; limiting self care ADL YH, MW Grade 3 sinus disorder AE CTCAE: E13563 OAE:0003126 a sinus disorder AE that has necrosis of soft tissue or bone; urgent operative intervention indicated YH, MW Grade 4 sinus disorder AE CTCAE: E13564 OAE:0003127 a sore throat AE that has Severe pain; limiting self care ADL; limiting ability to swallow YH, MW Grade 3 sore throat AE CTCAE: E13578 OAE:0003128 a stridor AE that has respiratory distress limiting self care ADL; medical intervention indicated YH, MW Grade 3 stridor AE CTCAE: E13580 OAE:0003129 a stridor AE that has life-threatening airway compromise; urgent intervention indicated (e.g., tracheotomy or intubation) YH, MW Grade 4 stridor AE CTCAE: E13581 OAE:0003130 a voice alteration AE that has mild or intermittent change from normal voice YH, MW Grade 1 voice alteration AE CTCAE: E13602 OAE:0003131 a voice alteration AE that has moderate or persistent change from normal voice; still understandable YH, MW Grade 2 voice alteration AE CTCAE: E13603 OAE:0003132 a voice alteration AE that has severe voice changes including predominantly whispered speech; may require frequent repetition or face-to-face contact for understandability; may require assistive technology YH, MW Grade 3 voice alteration AE CTCAE: E13604 OAE:0003133 a wheezing AE that has detectable airway noise with minimal symptoms YH, MW Grade 1 wheezing AE CTCAE: E13606 OAE:0003134 a wheezing AE that has severe respiratory symptoms limiting self care ADL; oxygen therapy or hospitalization indicated YH, MW Grade 3 wheezing AE CTCAE: E13608 OAE:0003135 a menorrhagia AE that has moderate symptoms; medical intervention indicated (e.g., hormones) YH, MW Grade 2 menorrhagia AE CTCAE: E13134 OAE:0003136 a menorrhagia AE that has severe; transfusion indicated; surgical intervention indicated (e.g., hysterectomy) YH, MW Grade 3 menorrhagia AE CTCAE: E13135 OAE:0003137 an acute kidney injury AE that has creatinine level increase of >0.3 mg/dL; creatinine 1.5 - 2.0 x above baseline YH, MW Grade 1 acute kidney injury AE CTCAE: E12974 OAE:0003138 an acute kidney injury AE that has creatinine 2 - 3 x above baseline YH, MW Grade 2 acute kidney injury AE CTCAE: E12975 OAE:0003139 an acute kidney injury AE that has creatinine >3 x baseline or >4.0 mg/dL; hospitalization indicated YH, MW Grade 3 acute kidney injury AE CTCAE: E12976 OAE:0003140 a hematuria AE that has symptomatic; urinary catheter or bladder irrigation indicated; limiting instrumental ADL YH, MW Grade 2 hematuria AE CTCAE: E13002 OAE:0003141 a hematuria AE that has gross hematuria; transfusion, IV medications or hospitalization indicated; elective endoscopic, radiologic or operative intervention indicated; limiting self care ADL YH, MW Grade 3 hematuria AE CTCAE: E13003 OAE:0003142 an urinary incontinence AE that has occasional (e.g., with coughing, sneezing, etc.), pads not indicated YH, MW Grade 1 urinary incontinence AE CTCAE: E13043 OAE:0003143 an urinary incontinence AE that has spontaneous; pads indicated; limiting instrumental ADL YH, MW Grade 2 urinary incontinence AE CTCAE: E13044 OAE:0003144 an urinary incontinence AE that has Intervention indicated (e.g., clamp, collagen injections); operative intervention indicated; limiting self care ADL YH, MW Grade 3 urinary incontinence AE CTCAE: E13045 OAE:0003145 an urinary retention AE that has urinary, suprapubic or intermittent catheter placement not indicated; able to void with some residual YH, MW Grade 1 urinary retention AE CTCAE: E13047 OAE:0003146 an urinary retention AE that has placement of urinary, suprapubic or intermittent catheter placement indicated; medication indicated YH, MW Grade 2 urinary retention AE CTCAE: E13048 OAE:0003147 an urinary retention AE that has elective operative or radiologic intervention indicated; substantial loss of affected kidney function or mass YH, MW Grade 3 urinary retention AE CTCAE: E13049 OAE:0003148 a suicidal ideation AE that has increased thoughts of death but no wish to kill oneself YH, MW Grade 1 suicidal ideation AE CTCAE: E12965 OAE:0003149 a suicidal ideation AE that has suicidal ideation with no specific plan or intent YH, MW Grade 2 suicidal ideation AE CTCAE: E12966 OAE:0003150 a suicidal ideation AE that has specific plan to commit suicide without serious intent to die which may not require hospitalization YH, MW Grade 3 suicidal ideation AE CTCAE: E12967 OAE:0003151 a suicidal ideation AE that has specific plan to commit suicide with serious intent to die which requires hospitalization YH, MW Grade 4 suicidal ideation AE CTCAE: E12968 OAE:0003152 a suicide attempt AE that has suicide attempt or gesture without intent to die which may not require hospitalization YH, MW Grade 3 suicide attempt AE CTCAE: E12970 OAE:0003153 a suicide attempt AE that has suicide attempt with intent to die which requires hospitalization YH, MW Grade 4 suicide attempt AE CTCAE: E12971 OAE:0003154 an aphonia AE that has voicelessness; unable to speak YH, MW Grade 3 aphonia AE CTCAE: E12590 OAE:0003155 a depressed level of consciousness AE that has decreased level of alertness YH, MW Grade 1 depressed level of consciousness AE CTCAE: E12626 OAE:0003156 a depressed level of consciousness AE that has Sedation; slow response to stimuli; limiting instrumental ADL YH, MW Grade 2 depressed level of consciousness AE CTCAE: E12627 OAE:0003157 a depressed level of consciousness AE that is difficult to arouse YH, MW Grade 3 depressed level of consciousness AE CTCAE: E12628 OAE:0003158 a dysgenusia AE that has altered taste but no change in diet YH, MW Grade 1 dysgeusia AE CTCAE: E12644 OAE:0003159 a dysgenusia AE that has altered taste with change in diet (e.g., oral supplements); noxious or unpleasant taste; loss of taste YH, MW Grade 2 dysgeusia AE CTCAE: E12645 OAE:0003160 a leukoencephalopathy AE that has asymptomatic; small focal T2/FLAIR hyperintensities; involving periventricular white matter or <1/3 of susceptible areas of cerebrum +/- mild increase in subarachnoid space (SAS) and/or mild ventriculomegaly YH, MW Grade 1 leukoencephalopathy AE CTCAE: E12713 OAE:0003161 a leukoencephalopathy AE that has moderate symptoms; focal T2/FLAIR hyperintensities, involving periventricular white matter extending into centrum semiovale or involving 1/3 to 2/3 of susceptible areas of cerebrum +/- moderate increase in SAS and/or moderate ventriculomegaly YH, MW Grade 2 leukoencephalopathy AE CTCAE: E12714 OAE:0003162 a leukoencephalopathy AE that has severe symptoms; extensive T2/FLAIR hyperintensities, involving periventricular white matter involving 2/3 or more of susceptible areas of cerebrum +/- moderate to severe increase in SAS and/or moderate to severe ventriculomegaly YH, MW Grade 3 leukoencephalopathy AE CTCAE: E12715 OAE:0003163 a leukoencephalopathy AE that has life-threatening consequences; extensive T2/FLAIR hyperintensities, involving periventricular white matter involving most of susceptible areas of cerebrum +/- moderate to severe increase in SAS and/or moderate to severe ventriculomegaly YH, MW Grade 4 leukoencephalopathy AE CTCAE: E12716 OAE:0003164 a myelitis AE that has asymptomatic; mild signs (e.g., Babinski's reflex or Lhermitte's sign) YH, MW Grade 1 myelitis AE CTCAE: E12733 OAE:0003165 a myelitis AE that has moderate weakness or sensory loss; limiting instrumental ADL YH, MW Grade 2 myelitis AE CTCAE: E12734 OAE:0003166 a myelitis AE that has severe weakness or sensory loss; limiting self care ADL YH, MW Grade 3 myelitis AE CTCAE: E12735 OAE:0003167 a presyncope AE that has present (e.g., near fainting) YH, MW Grade 2 presyncope AE CTCAE: E12779 OAE:0003168 a seizure AE that has brief partial seizure; no loss of consciousness YH, MW Grade 1 seizure AE CTCAE: E12805 OAE:0003169 a seizure AE that has brief generalized seizure YH, MW Grade 2 seizure AE CTCAE: E12806 OAE:0003170 a seizure AE that has multiple seizures despite medical intervention YH, MW Grade 3 seizure AE CTCAE: E12807 OAE:0003171 a seizure AE that has life-threatening; prolonged repetitive seizures YH, MW Grade 4 seizure AE CTCAE: E12808 OAE:0003172 a somnolence AE that has mild but more than usual drowsiness or sleepiness YH, MW Grade 1 somnolence AE CTCAE: E12815 OAE:0003173 a somnolence AE that has moderate sedation; limiting instrumental ADL YH, MW Grade 2 somnolence AE CTCAE: E12816 OAE:0003174 a somnolence AE that has obtundation or stupor YH, MW Grade 3 somnolence AE CTCAE: E12817 OAE:0003175 a syncope AE that has fainting; orthostatic collapse YH, MW Grade 3 syncope AE CTCAE: E12833 OAE:0003176 an arthritis AE that has mild pain with inflammation, erythema, or joint swelling YH, MW Grade 1 arthritis AE CTCAE: E12379 OAE:0003177 an arthritis AE that has moderate pain associated with signs of inflammation, erythema, or joint swelling; limiting instrumental ADL YH, MW Grade 2 arthritis AE CTCAE: E12380 OAE:0003178 an arthritis AE that has severe pain associated with signs of inflammation, erythema, or joint swelling; irreversible joint damage; disabling; limiting self care ADL YH, MW Grade 3 arthritis AE CTCAE: E12381 OAE:0003179 a joint range of motion decreased AE that requires <=25% loss of ROM (range of motion); decreased ROM limiting athletic activity YH, MW Grade 1 joint range of motion decreased AE CTCAE: E12436 OAE:0003180 a joint range of motion decreased AE that requires >25 - 50% decrease in ROM; limiting instrumental ADL YH, MW Grade 2 joint range of motion decreased AE CTCAE: E12437 OAE:0003181 a joint range of motion decreased AE that requires >50% decrease in ROM; limiting self care ADL; disabling YH, MW Grade 3 joint range of motion decreased AE CTCAE: E12438 OAE:0003182 an osteoporosis AE that has radiologic evidence of osteoporosis or Bone Mineral Density (BMD) t-score -1 to -2.5 (osteopenia); no loss of height or intervention indicated YH, MW Grade 1 osteoporosis AE CTCAE: E12509 OAE:0003183 an osteoporosis AE that has BMD t-score <-2.5; loss of height <2 cm; anti-osteoporotic therapy indicated; limiting instrumental ADL YH, MW Grade 2 osteoporosis AE CTCAE: E12510 OAE:0003184 an osteoporosis AE that has loss of height >=2 cm; hospitalization indicated; limiting self care ADL YH, MW Grade 3 osteoporosis AE CTCAE: E12511 OAE:0003185 an acidosis AE that has pH <normal, but >=7.3 YH, MW Grade 1 acidosis AE CTCAE: E12238 OAE:0003186 an acidosis AE that has pH <7.3 YH, MW Grade 3 acidosis AE CTCAE: E12239 OAE:0003187 an anorexia AE that has loss of appetite without alteration in eating habits YH, MW Grade 1 anorexia AE CTCAE: E12253 OAE:0003188 an anorexia AE that has oral intake altered without significant weight loss or malnutrition; oral nutritional supplements indicated YH, MW Grade 2 anorexia AE CTCAE: E12254 OAE:0003189 an anorexia AE that has associated with significant weight loss or malnutrition (e.g., inadequate oral caloric and/or fluid intake); tube feeding or TPN indicated YH, MW Grade 3 anorexia AE CTCAE: E12255 OAE:0003190 a dehydration AE that has increased oral fluids indicated; dry mucous membranes; diminished skin turgor YH, MW Grade 1 dehydration AE CTCAE: E12259 OAE:0003191 a dehydration AE that requires IIV fluids indicated <24 hrs YH, MW Grade 2 dehydration AE CTCAE: E12260 OAE:0003192 a hypercalcemia AE that has corrected serum calcium of >ULN - 11.5 mg/dL; >ULN - 2.9 mmol/L; Ionized calcium >ULN - 1.5 mmol/L YH, MW Grade 1 hypercalcemia AE CTCAE: E12271 OAE:0003193 a hypercalcemia AE that has corrected serum calcium of >11.5 - 12.5 mg/dL; >2.9 - 3.1 mmol/L; Ionized calcium >1.5 - 1.6 mmol/L; symptomatic YH, MW Grade 2 hypercalcemia AE CTCAE: E12272 OAE:0003194 a hypercalcemia AE that has corrected serum calcium of >12.5 - 13.5 mg/dL; >3.1 - 3.4 mmol/L; Ionized calcium >1.6 - 1.8 mmol/L; hospitalization indicated YH, MW Grade 3 hypercalcemia AE CTCAE: E12273 OAE:0003195 a hypercalcemia AE that has corrected serum calcium of >13.5 mg/dL; >3.4 mmol/L; Ionized calcium >1.8 mmol/L; life-threatening consequences YH, MW Grade 4 hypercalcemia AE CTCAE: E12274 OAE:0003196 a hypeglycemia AE that has fasting glucose value >ULN - 160 mg/dL; Fasting glucose value >ULN - 8.9 mmol/L YH, MW Grade 1 hyperglycemia AE CTCAE: E12277 OAE:0003197 a hypeglycemia AE that has fasting glucose value >160 - 250 mg/dL; Fasting glucose value >8.9 - 13.9 mmol/L YH, MW Grade 2 hyperglycemia AE CTCAE: E12278 OAE:0003198 a hypeglycemia AE that has >250 - 500 mg/dL; >13.9 - 27.8 mmol/L; hospitalization indicated YH, MW Grade 3 hyperglycemia AE CTCAE: E12279 OAE:0003199 a hypeglycemia AE that has >500 mg/dL; >27.8 mmol/L; life-threatening consequences YH, MW Grade 4 hyperglycemia AE CTCAE: E12280 OAE:0003200 a hyperkalemia AE that requires >ULN - 5.5 mmol/L YH, MW Grade 1 hyperkalemia AE CTCAE: E12283 OAE:0003201 a hyperkalemia AE that requires >5.5 - 6.0 mmol/L YH, MW Grade 2 hyperkalemia AE CTCAE: E12284 OAE:0003202 a hyperkalemia AE that requires >6.0 - 7.0 mmol/L; hospitalization indicated YH, MW Grade 3 hyperkalemia AE CTCAE: E12285 OAE:0003203 a hyperkalemia AE that requires >7.0 mmol/L; life-threatening consequences YH, MW Grade 4 hyperkalemia AE CTCAE: E12286 OAE:0003204 a hypertriglyceridemia AE that requires 150 mg/dL - 300 mg/dL; 1.71 mmol/L - 3.42 mmol/L YH, MW Grade 1 hypertriglyceridemia AE CTCAE: E12300 OAE:0003205 a hypertriglyceridemia AE that requires >300 mg/dL - 500 mg/dL; >3.42 mmol/L - 5.7 mmol/L YH, MW Grade 2 hypertriglyceridemia AE CTCAE: E12301 OAE:0003206 a hypertriglyceridemia AE that requires >500 mg/dL - 1000 mg/dL; >5.7 mmol/L - 11.4 mmol/L YH, MW Grade 3 hypertriglyceridemia AE CTCAE: E12302 OAE:0003207 a hypertriglyceridemia AE that requires >1000 mg/dL; >11.4 mmol/L; life-threatening consequences YH, MW Grade 4 hypertriglyceridemia AE CTCAE: E12303 OAE:0003208 a hyperuricemia AE that requires >ULN - 10 mg/dL (0.59 mmol/L) without physiologic consequences YH, MW Grade 1 hyperuricemia AE CTCAE: E12306 OAE:0003209 a hyperuricemia AE that requires >ULN - 10 mg/dL (0.59 mmol/L) with physiologic consequences YH, MW Grade 3 hyperuricemia AE CTCAE: E12307 OAE:0003210 a hyperuricemia AE that requires >10 mg/dL; >0.59 mmol/L; life-threatening consequences YH, MW Grade 4 hyperuricemia AE CTCAE: E12308 OAE:0003211 a hypoalbuminemia AE that requires NCI<LLN - 3 g/dL; <LLN - 30 g/L YH, MW Grade 1 hypoalbuminemia AE CTCAE: E12311 OAE:0003212 a hypoalbuminemia AE that requires NCI<3 - 2 g/dL; <30 - 20 g/L YH, MW Grade 2 hypoalbuminemia AE CTCAE: E12312 OAE:0003213 a hypoalbuminemia AE that requires NCI<2 g/dL; <20 g/L YH, MW Grade 3 hypoalbuminemia AE CTCAE: E12313 OAE:0003214 a hypocalcemia AE that requires corrected serum calcium of <LLN - 8.0 mg/dL; <LLN - 2.0 mmol/L; Ionized calcium <LLN - 1.0 mmol/L YH, MW Grade 1 hypocalcemia AE CTCAE: E12317 OAE:0003215 a hypocalcemia AE that requires corrected serum calcium of <8.0 - 7.0 mg/dL; <2.0 - 1.75 mmol/L; Ionized calcium <1.0 - 0.9 mmol/L; symptomatic YH, MW Grade 2 hypocalcemia AE CTCAE: E12318 OAE:0003216 a hypocalcemia AE that requires corrected serum calcium of <7.0 - 6.0 mg/dL; <1.75 - 1.5 mmol/L; Ionized calcium <0.9 - 0.8 mmol/L; hospitalization indicated YH, MW Grade 3 hypocalcemia AE CTCAE: E12319 OAE:0003217 a hypocalcemia AE that requires corrected serum calcium of <6.0 mg/dL; <1.5 mmol/L; Ionized calcium <0.8 mmol/L; life-threatening consequences YH, MW Grade 4 hypocalcemia AE CTCAE: E12320 OAE:0003218 a hypoglycernia AE that requires <LLN - 55 mg/dL; <LLN - 3.0 mmol/L YH, MW Grade 1 hypoglycemia AE CTCAE: E12323 OAE:0003219 a hypoglycernia AE that requires <55 - 40 mg/dL; <3.0 - 2.2 mmol/L YH, MW Grade 2 hypoglycemia AE CTCAE: E13874 OAE:0003220 a hypoglycernia AE that requires <40 - 30 mg/dL; <2.2 - 1.7 mmol/L YH, MW Grade 3 hypoglycemia AE CTCAE: E12324 OAE:0003221 a hypoglycernia AE that requires <30 mg/dL; <1.7 mmol/L; life-threatening consequences; seizures YH, MW Grade 4 hypoglycemia AE CTCAE: E12325 OAE:0003222 a hypomagnesemia AE that requires <LLN - 1.2 mg/dL; <LLN - 0.5 mmol/L YH, MW Grade 1 hypomagnesemia AE CTCAE: E12334 OAE:0003223 a hypomagnesemia AE that requires <1.2 - 0.9 mg/dL; <0.5 - 0.4 mmol/L YH, MW Grade 2 hypomagnesemia AE CTCAE: E12335 OAE:0003224 a hypomagnesemia AE that requires <0.9 - 0.7 mg/dL; <0.4 - 0.3 mmol/L YH, MW Grade 3 hypomagnesemia AE CTCAE: E12336 OAE:0003225 a hypomagnesemia AE that requires <0.7 mg/dL; <0.3 mmol/L; life-threatening consequences YH, MW Grade 4 hypomagnesemia AE CTCAE: E12337 OAE:0003226 a hypophosphatemia AE that requires <LLN - 2.5 mg/dL; <LLN - 0.8 mmol/L YH, MW Grade 1 hypophosphatemia AE CTCAE: E12345 OAE:0003227 a hypophosphatemia AE that requires <2.5 - 2.0 mg/dL; <0.8 - 0.6 mmol/L YH, MW Grade 2 hypophosphatemia AE CTCAE: E12346 OAE:0003228 a hypophosphatemia AE that requires <2.0 - 1.0 mg/dL; <0.6 - 0.3 mmol/L YH, MW Grade 3 hypophosphatemia AE CTCAE: E12347 OAE:0003229 a hypophosphatemia AE that requires <1.0 mg/dL; <0.3 mmol/L; life-threatening consequences YH, MW Grade 4 hypophosphatemia AE CTCAE: E12348 OAE:0003231 a cough AE that shows an increased rate of coughing YH, JX WEB: http://medical-dictionary.thefreedictionary.com/cough 10011228 cough increased AE OAE:0003233 a viral infection AE that is caused by a herpes virus. Note that there are 8 herpesvirus types. YH, JX WEB: https://en.wikipedia.org/wiki/Herpesviridae 10019972 herpes viral infection AE OAE:0003234 a herpez zoster AE that occurs in children. YH, JX WEB: https://en.wikipedia.org/wiki/Varicella_zoster_virus chickenpox AE OAE:0003235 a nervous system AE that shows abnormal neurologic reflexes, which can be tesetd by the knee jerk reaction. JX, YH WEB: http://www.medicinenet.com/script/main/art.asp?articlekey=20423 10038254 abnormal reflex AE OAE:0003236 an abnormal reflex AE where the patient has a condition of below normal or absent reflexes (areflexia). Hyporeflexia is the condition of below normal or absent reflexes. Hyporeflexia is generally associated with a lower motor neuron deficit (at the alpha motor neurons from the spinal cord to muscle). SS, JX, YH reflexes decreased AE WEB: http://en.wikipedia.org/wiki/Hyporeflexia WEB: http://www.medicinenet.com/script/main/art.asp?articlekey=20423 10021089 hyporeflexia AE HPO: HP_0009072 SIDER: C0151888 OAE:0003237 an abnormal reflex AE that has an outcome of overactive reflexes, indicative of upper motor neuron disease as well as lessening or loss of control ordinarily exerted by higher brain centers of lower neural pathways. JX, YH WEB: https://en.wikipedia.org/wiki/Hyperreflexia 10020745 hyperreflexia AE HPO: HP_0001347 SIDER: C0151889 OAE:0003238 a cardiac arrest AE where there is no discernible electrical activity on the ECG monitor. YH, MW asystole WEB: http://www.cardiachealth.org/asystole-and-pulseless-electrical-activity 10003586 Asystole is the absence of electrical activity in the heart, as evidenced by a flat line on an EKG. Cardiac arrest is a more general term for conditions where the heart is not circulating blood. Ventricular fibrillation (V-fib) or pulseless Ventricular tachycardia (V-tach) are examples of EKG rhythms which also will produce cardiac arrest, but are not asystole. Pulseless electrical activity (PEA) is another catch-all where there is an otherwise survivable EKG, but no blood is circulating. This can be caused by trauma to the heart, or tremendous blood loss, among other reasons. See: https://answers.yahoo.com/question/index?qid=20081027100243AAy0yt4 asystole AE CTCAE: E10077 NCit:C50479 OAE:0003239 an eye inflammation AE that occurs at the corneal area. MW, YH WEB: http://www.mayoclinic.org/diseases-conditions/keratitis/basics/definition/con-20035288 10023332 keratitis AE CTCAE: E10397 NCIT: C26805 OAE:0003240 an infection AE where one or two eyes get infected by bacteria, fungi, or viruses. MW, YH WEB: https://www.nlm.nih.gov/medlineplus/eyeinfections.html 10015929 eye infection AE CTCAE: E11391 NCIT: C45372 OAE:0003241 an inflammation AE that shows inflammation at the location of appendix. MW, YH 10003011 appendicitis AE CTCAE: E11292 NCIt: C35145 OAE:0003242 an electrocardiogram QT prolonged AE that estimates the QT interval at a heart rate of 60 bpm. MW, YH WEB: http://lifeinthefastlane.com/ecg-library/basics/qt_interval/ 10014383 electrocardiogram QT corrected interval prolonged AE CTCAE: E12146 NCIt: C71034 UMLS: C0855333 OAE:0003244 an anorexia AE that has loss of appetite of greasy food. QL, YH WEB: http://www.anxietycare.org.uk/docs/eating.asp aversion to greasy food AE OAE:0003246 a skin AE that has an outcome of injury to the skin and underlying tissues from exposure to a large external dose of radiation MW, YH WEB: http://www.dermnetnz.org/reactions/radiation-dermatitis.html 10061103 dermatitis radiation AE CTCAE: E11675 NCIt: C0034561 OAE:0003247 a gastric disorder AE that shows an rupture in the stomach QL, YH stomach rupture WEB: http://medical-dictionary.thefreedictionary.com/gastrorrhexis gastrorrhexis AE OAE:0003248 an injury AE that refers to break or burst suddenly (esp. of a pipe, a vessel, or a bodily part such as an organ or membrane) YH. QL WEB: https://en.wikipedia.org/wiki/Rupture rupture AE OAE:0003249 a radiation skin injury AE that shows skin burn from exposure to a large external dose of radiation MW, YH WEB: https://en.wikipedia.org/wiki/Radiation_burn 10063640 radiation burn AE OAE:0003250 a troponin AE which indicates increased levels of cardiac troponin I in a biological specimen MW, YH 10007612 cardiac troponin I increased AE CTCAE: E12116 NCIt: C78230 OAE:0003251 a musculoskeletal or connective tissue AE that has greater growth than expected for age. MW, YH 10018746 growth accelerated AE CTCAE: E10317 NCIt: C83495 OAE:0003252 a surgery AE that has the finding of a previously undocumented problem that occurs after a thoracic procedure. MW, YH 10056745 postoperative thoracic procedure complication AE CTCAE: E11909 NCIt: C78567 OAE:0003253 a uterine AE that has a rupture in the uterine wall. MW, YH 10046810 uterine perforation AE CTCAE: E12028 NCIt: C50793 OAE:0003254 a female reproductive system AE that has the finding of rupture of the fallopian tube wall. MW, YH 10065790 fallopian tube perforation AE CTCAE: E11697 NCIt: C78294 OAE:0003255 an endocrine system AE that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex as in Addison's disease or primary adrenal insufficiency. MW, YH 10001367 adrenal insufficiency AE CTCAE: E10298 NCIt: C26691 OAE:0003256 an endocrine system AE that has signs and symptoms that resemble Cushing's disease or syndrome: buffalo hump obesity, striations, adiposity, hypertension, diabetes, and osteoporosis, usually due to exogenous corticosteroids. MW, YH 10011655 cushingoid AE CTCAE: E10304 NCIt: C37938 OAE:0003257 an endocrine system AE that has unusually late sexual maturity. MW, YH 10012205 delayed puberty AE CTCAE: E10308 NCIt: C62587 OAE:0003258 an endocrine system AE that has an increase in production of parathyroid hormone by the parathyroid glands. This results in hypercalcemia (abnormally high levels of calcium in the blood). MW, YH 10020705 hyperparathyroidism AE CTCAE: E10319 NCIt: C48259 OAE:0003259 an endocrine system AE that has a decrease in production of parathyroid hormone by the parathyroid glands. MW, YH 10021041 hypoparathyroidism AE CTCAE: E10328 NCIt: C78350 OAE:0003260 an endocrine system AE that has inappropriate masculinization occurring in a female or prepubertal male. MW, YH 10047488 virilization AE CTCAE: E10343 NCIt: C79859 OAE:0003261 an endocrine system AE that has unusually early development of secondary sexual features; the onset of sexual maturation begins usually before age 8 for girls and before age 9 for boys. MW, YH 10058084 precocious puberty AE CTCAE: E10340 NCIt: C79704 OAE:0003262 a medical intervention site AE that has the finding of tumor-like collection of serum in the tissues. MW, YH 10040102 seroma AE CTCAE: E11938 NCIt: C50739 OAE:0003263 a medical intervention site AE that has a circumscribed, inflammatory and necrotic erosive lesion on the jejunal mucosal surface close to the anastomosis site following a gastroenterostomy procedure. MW, YH 10042127 stomal ulcer AE CTCAE: E11965 NCIt: C79766 OAE:0003264 a medical intervention site AE that has a finding of blood leakage from the intestinal stoma. MW, YH 10049468 intestinal stoma site bleeding AE CTCAE: E11764 NCIt: C78371 OAE:0003265 a medical intervention site AE that has the finding of leakage due to breakdown of a pancreatic anastomosis (surgical connection of two separate anatomic structures). MW, YH 10050457 pancreatic anastomotic leak AE CTCAE: E11891 NCIt: C78518 OAE:0003266 a medical intervention site AE that has the finding of leakage of bile due to breakdown of a biliary anastomosis (surgical connection of two separate anatomic structures). MW, YH 10050458 biliary anastomotic leak AE CTCAE: E11654 NCIt: C78183 OAE:0003267 a medical intervention site AE that has the finding of blockage of the normal flow of the contents of the intestinal stoma. MW, YH 10059094 intestinal stoma leak AE CTCAE: E11759 NCIt: C78370 OAE:0003268 a medical intervention site AE that has the finding of leakage of contents from an intestinal stoma (surgically created opening on the surface of the body). MW, YH 10059095 intestinal stoma leak AE CTCAE: E11753 NCIt: C78369 OAE:0003269 a medical intervention site AE that has the finding of a previously undocumented problem related to the vascular access site. MW, YH 10062169 vascular access complication AE CTCAE: E12046 NCIt: C78709 OAE:0003270 a medical intervention site AE that has the finding of leakage due to breakdown of a pharyngeal anastomosis (surgical connection of two separate anatomic structures). MW, YH 10065705 pharyngeal anastomotic leak AE CTCAE: E11897 NCIt: C78550 OAE:0003271 a medical intervention site AE that has the finding of protrusion of the intestinal stoma (surgically created opening on the surface of the body) above the abdominal surface. MW, YH 10065745 prolapse of intestinal stoma AE CTCAE: E11914 NCIt: C78570 OAE:0003272 a medical intervention site AE that has the finding of bleeding from the urostomy site. MW, YH 10065748 urostomy site bleeding AE CTCAE: E12011 NCIt: C78682 OAE:0003273 a medical intervention site AE that has the finding of blood leakage from the tracheostomy site. MW, YH 10065749 tracheostomy site bleeding AE CTCAE: E11981 NCIt: C78648 OAE:0003274 a medical intervention site AE that has the finding of leakage due to breakdown of a fallopian tube anastomosis (surgical connection of two separate anatomic structures). MW, YH 10065788 fallopian tube anastomotic leak AE CTCAE: E11691 NCIt: C78292 OAE:0003275 a medical intervention site AE that has the finding of leakage of urine due to breakdown of a bladder anastomosis (surgical connection of two separate anatomic structures). MW, YH 10065802 bladder anastomotic leak AE CTCAE: E11660 NCIt: C78206 OAE:0003276 a medical intervention site AE that has the finding of leakage of urine due to breakdown of a kidney anastomosis (surgical connection of two separate anatomic structures). MW, YH 10065803 kidney anastomotic leak AE CTCAE: E11879 NCIt: C78406 OAE:0003277 a medical intervention site AE that has the finding of leakage due to breakdown of a ureteral anastomosis (surgical connection of two separate anatomic structures). MW, YH 10065814 ureteric anastomotic leak AE CTCAE: E11987 NCIt: C78662 OAE:0003278 a medical intervention site AE that has the finding of leakage due to breakdown of a urethral anastomosis (surgical connection of two separate anatomic structures). MW, YH 10065815 urethral anastomotic leak CTCAE: E11993 NCIt: C78667 OAE:0003279 a medical intervention site AE that has the finding of displacement of the urostomay MW, YH 10065822 prolapse of urostomy AE CTCAE: E11920 NCIt: C78571 OAE:0003280 a medical intervention site AE that has the finding of leakage due to breakdown of a gastrointestinal anastomosis (surgical connection of two separate anatomic structures). MW, YH 10065879 gastrointestinal anastomotic leak CTCAE: E11715 NCIt: C78318 OAE:0003281 a medical intervention site AE that has the finding of leakage of contents from a urostomy. MW, YH 10065882 urostomy leak AE CTCAE: E11999 NCIt: C78679 OAE:0003282 a medical intervention site AE that has the finding of blockage of the urostomy. MW, YH 10065883 urostomy obstruction AE CTCAE: E12005 NCIt: C78680 OAE:0003283 a medical intervention site AE that has the finding of narrowing of the opening of a urostomy. MW, YH 10065885 urostomy stenosis AE CTCAE: E12017 NCIt: C78683 OAE:0003284 a medical intervention site AE that has the finding of leakage due to breakdown of a uterine anastomosis (surgical connection of two separate anatomic structures). MW, YH 10065886 uterine anastomotic leak AE CTCAE: E12022 NCIt: C78684 OAE:0003285 a medical intervention site AE that has the finding of leakage due to breakdown of a vaginal anastomosis (surgical connection of two separate anatomic structures). MW, YH 10065887 vaginal anastomotic leak AE CTCAE: E12034 NCIt: C78698 OAE:0003286 a medical intervention site AE that has the finding of leakage due to breakdown of a vas deferens anastomosis (surgical connection of two separate anatomic structures). MW, YH 10065888 vas deferens anastomotic leak AE CTCAE: E12040 NCIt: C78704 OAE:0003287 a medical intervention site AE that has the finding of leakage due to breakdown of an anastomosis (surgical connection of two separate anatomic structures) in the large intestine. MW, YH 10065891 large intestinal anastomotic leak AE CTCAE: E11885 NCIt: C78408 OAE:0003288 a medical intervention site AE that has the finding of leakage due to breakdown of an anastomosis (surgical connection of two separate anatomic structures) in the small bowel. MW, YH 10065892 small intestinal anastomotic leak AE CTCAE: E11942 NCIt: C78612 OAE:0003289 a medical intervention site AE that has the finding of leakage due to breakdown of a gastric anastomosis (surgical connection of two separate anatomic structures). MW, YH 10065893 gastric anastomotic leak AE CTCAE: E11709 NCIt: C78310 OAE:0003290 a medical intervention site AE that has the finding of leakage due to breakdown of a rectal anastomosis (surgical connection of two separate anatomic structures). MW, YH 10065894 rectal anastomotic leak AE CTCAE: E11932 NCIt: C78583 OAE:0003291 a medical intervention site AE that has the finding of leakage due to breakdown of a spermatic cord anastomosis (surgical connection of two separate anatomic structures). MW, YH 10065897 spermatic cord anastomotic leak AE CTCAE: E11948 NCIt: C78622 OAE:0003292 a medical intervention site AE that has the finding of narrowing of the gastrointestinal stoma (surgically created opening on the surface of the body). MW, YH 10065898 stenosis of gastrointestinal stoma AE CTCAE: E11960 NCIt: C78628 OAE:0003293 a medical intervention site AE that has the finding of leakage due to breakdown of an esophageal anastomosis (surgical connection of two separate anatomic structures). MW, YH 10065961 esophageal anastomotic leak AE CTCAE: E11681 NCIt: C78270 OAE:0003294 an infection AE that has an infectious process involving the bladder. MW, YH 10005047 bladder infection AE CTCAE: E11309 NCIt: C26738 OAE:0003295 an infection AE that has an infectious process involving the uterine cervix. MW, YH 10008330 cervicitis infection AE CTCAE: E11337 NCIt: C78360 OAE:0003296 an infection AE that has an infectious process involving the brain tissue. MW, YH 10014594 encephalitis infection AE CTCAE: E11365 NCIt: C79550 OAE:0003297 an infection AE that has an infectious process involving the brain and spinal cord tissues. MW, YH 10014621 encephalomyelitis infection AE CTCAE: E11369 NCIt: C79551 OAE:0003298 an infection AE that has an infectious process involving the endocardial layer of the heart. MW, YH 10014678 endocarditis infective AE CTCAE: E11373 NCIt: C78265 OAE:0003299 an infection AE that has an infectious process involving the gums. MW, YH 10018784 gum infection AE CTCAE: E11400 NCIt: C78329 OAE:0003300 an infection AE that has an infectious process involving the skeletal muscles. MW, YH 10021918 infective myositis AE CTCAE: E11421 NCIt: C26984 OAE:0003301 an infection AE that has an infectious process involving a joint. MW, YH 10023216 joint infection AE CTCAE: E11426 NCIt: C78402 OAE:0003302 an infection AE that has an infectious process involving the kidney. MW, YH 10023424 kidney infection AE CTCAE: E11431 NCIt: C34965 OAE:0003303 an infection AE that has an infectious process involving the outer ear and ear canal. Contributory factors include excessive water exposure (swimmer's ear infection) and cuts in the ear canal. Symptoms include fullness, itching, swelling and marked discomfort in the ear and ear drainage. MW, YH 10033072 otitis externa AE CTCAE: E11472 NCIt: C3299 OAE:0003304 an infection AE that has an infectious process involving the salivary gland. MW, YH 10039413 salivary gland infection AE CTCAE: E11550 NCIt: C78601 OAE:0003305 an infection AE that has an infectious process involving the wound. MW, YH 10048038 wound infection AE CTCAE: E11635 NCIt: C45234 OAE:0003306 an infection AE that has an infectious process involving a tooth. MW, YH 10048762 tooth infection AE CTCAE: E11594 NCIt: C78639 OAE:0003307 an infection AE that has an infectious process involving the prostate gland. MW, YH 10050662 prostate infection AE CTCAE: E11540 NCIt: C27615 OAE:0003308 an infection AE that has an infectious process involving the lymph nodes. MW, YH 10050823 lymph gland infection AE CTCAE: E11449 NCIt: C26821 OAE:0003309 an infection AE that has an infectious process involving the pancreas. MW, YH 10051741 pancreas infection AE CTCAE: E11487 NCIt: C78517 OAE:0003310 an infection AE that has an infectious process involving the urethra. MW, YH 10052298 urethral infection AE CTCAE: E11609 NCIt: C78671 OAE:0003311 an infection AE that has an infectious process involving the ovary. MW, YH 10055005 ovarian infection AE CTCAE: E11482 NCIt: C78512 OAE:0003312 an infection AE that has an infectious process involving the abdominal cavity. MW, YH 10056519 abdominal infection AE CTCAE: E11282 NCIt: C35669 OAE:0003313 an infection AE that has an infectious process involving the liver. MW, YH 10056522 hepatic infection AE CTCAE: E11406 NCIt: C78339 OAE:0003314 an infection AE that has an infectious process involving the vein. Clinical manifestations include erythema, marked discomfort, swelling, and induration along the course of the infected vein. MW, YH 10056627 phlebitis infective AE CTCAE: E11530 NCIt: C78558 OAE:0003315 an infection AE that has an infectious process involving the peritoneum. MW, YH 10057262 peritoneal infection AE CTCAE: E11521 NCIt: C78540 OAE:0003316 an infection AE that has an infectious process involving the mediastinum. MW, YH 10057483 mediastinal infection AE CTCAE: E11454 NCIt: C26827 OAE:0003317 an infection AE that has an infectious process involving the pelvic cavity. MW, YH 10058674 pelvic infection AE CTCAE: E11501 NCIt: C3889 OAE:0003318 an infection AE that has an infectious process involving the esophagus. MW, YH 10058804 esophageal infection AE CTCAE: E11386 NCIt: C78277 OAE:0003319 an infection AE that has an infectious process involving the small and large intestines. MW, YH 10058838 enterocolitis infectious AE CTCAE: E11381 NCIt: C80513 OAE:0003320 an infection AE that has an infectious process involving the nasal mucosal. MW, YH 10059827 rhinitis infective AE CTCAE: E11548 NCIt: C78599 OAE:0003321 an infection AE that has an infectious process involving the bones. MW, YH 10061017 bone infection AE CTCAE: E11314 NCIt: C26839 OAE:0003322 an infection AE that has an infectious process involving the pleura. MW, YH 10061351 pleural infection AE CTCAE: E11535 NCIt: C78563 OAE:0003323 an infection AE that has an infectious process involving the anal area and the rectum. MW, YH 10061640 anorectal infection AE CTCAE: E11286 NCIt: C78174 OAE:0003324 an infection AE that has an infectious process involving the biliary tract. MW, YH 10061695 biliary tract infection AE CTCAE: E11305 NCIt: C26718 OAE:0003325 an infection AE that has an infectious process involving the penis. MW, YH 10061912 penile infection AE CTCAE: E11506 NCIt: C78526 OAE:0003326 an infection AE that has an infectious process involving the spleen. MW, YH 10062112 splenic infection AE CTCAE: E11584 NCIt: C78627 OAE:0003327 an infection AE that has an infectious process involving the scrotum. MW, YH 10062156 scrotal infection AE CTCAE: E11555 NCIt: C78606 OAE:0003328 an infection AE that has an infectious process involving the endometrium. It may extend to the myometrium and parametrial tissues. MW, YH 10062233 uterine infection AE CTCAE: E11619 NCIt: C26764 OAE:0003329 an infection AE that has an infectious process involving the gallbladder. MW, YH 10062632 gallbladder infection AE CTCAE: E11396 NCIt: C78306 OAE:0003330 an infection AE that has an infectious process involving a stoma (surgically created opening on the surface of the body). MW, YH 10064505 stoma site infection AE CTCAE: E11588 NCIt: C78629 OAE:0003331 an infection AE that has an infectious process involving an artery. MW, YH 10065744 arteritis infective AE CTCAE: E11301 NCIt: C34399 OAE:0003332 an infection AE that has an infectious process involving the duodenum. MW, YH 10065752 duodenal infection AE CTCAE: E11360 NCIt: C78258 OAE:0003333 an infection AE that has an infectious process involving the lips. MW, YH 10065755 lip infection AE CTCAE: E11440 NCIt: C78434 OAE:0003334 an infection AE that has an infectious process involving the cecum. MW, YH 10065761 cecal infection AE CTCAE: E11333 NCIt: C78235 OAE:0003335 an infection AE that has an infectious process involving a mucosal surface. MW, YH 10065764 mucosal infection AE CTCAE: E11462 NCIt: C78454 OAE:0003336 an infection AE that has an infectious process involving a cranial nerve. MW, YH 10065765 cranial nerve infection AE CTCAE: E11352 NCIt: C78248 OAE:0003337 an infection AE that has an infectious process involving the peripheral nerves. MW, YH 10065766 peripheral nerve infection AE CTCAE: E11516 NCIt: C27589 OAE:0003338 an infection AE that has an infectious process involving the small intestine. MW, YH 10065771 small intestine infection AE CTCAE: E11574 NCIt: C78618 OAE:0003339 an infection AE that has an infectious process involving the vulva. MW, YH 10065772 vulval infection AE CTCAE: E11629 NCIt: C78716 OAE:0003340 a pain AE that has a sensation of marked discomfort in the anal region. MW, YH 10002167 anal pain AE CTCAE: E10486 NCIt: C78172 OAE:0003341 a pain AE that has a sensation of marked discomfort in the gallbladder region. MW, YH 10017638 gallbladder pain AE CTCAE: E11204 NCIt: C78304 OAE:0003342 a pain AE that has a sensation of marked discomfort in the gastrointestinal region. MW, YH 10017999 gastrointestinal pain AE CTCAE: E10755 NCIt: C78320 OAE:0003343 a pain AE that has a sensation of marked discomfort in the liver region. MW, YH 10019705 hepatic pain AE CTCAE: E11224 NCIt: C78341 OAE:0003344 a pain AE that has a sensation of marked discomfort of the lip. MW, YH 10024561 lip pain AE CTCAE: E10857 NCIt: C79684 OAE:0003345 a pain AE that has a sensation of marked discomfort in the rectal region. MW, YH 10038072 rectal pain AE CTCAE: E10977 NCIt: C78587 OAE:0003346 a pain AE that has a sensation of marked discomfort in the stomach. MW, YH 10042112 stomach pain AE CTCAE: E11044 NCIt: C78630 OAE:0003347 a chest pain AE that has discomfort in the chest unrelated to a heart disorder. MW, YH 10062501 non-cardiac chest pain AE CTCAE: E11163 NCIt: C78504 OAE:0003348 a respiratory system AE that has the finding of blockage of the lumen of the trachea. MW, YH 10044291 tracheal obstruction AE CTCAE: E11975 NCIt: C78645 OAE:0003349 a hemorrhage AE that has bleeding from the colon. MW, YH 10009998 colonic hemorrhage AE CTCAE: E10533 NCIt: C78240 OAE:0003350 a hemorrhage AE that has bleeding from the esophagus. MW, YH 10015384 esophageal hemorrhage AE CTCAE: E10645 NCIt: C78271 OAE:0003351 a hemorrhage AE that has bleeding from esophageal varices. MW, YH 10015453 esophageal varices hemorrhage AE CTCAE: E10682 NCIt: C78282 OAE:0003352 a hemorrhage AE that has bleeding from the liver. MW, YH 10019678 hepatic hemorrhage AE CTCAE: E11215 NCIt: C78338 OAE:0003353 a hemorrhage AE that has bleeding from the mouth. MW, YH 10030980 oral hemorrhage AE CTCAE: E10898 NCIt: C79699 OAE:0003354 a hemorrhage AE that has bleeding from the pancreas. MW, YH 10033626 pancreatic hemorrhage AE CTCAE: E10920 NCIt: C78521 OAE:0003355 a hemorrhage AE that has bleeding from the retroperitoneal area. MW, YH 10038981 retroperitoneal hemorrhage AE CTCAE: E10998 NCIt: C26944 OAE:0003356 a hemorrhage AE that has bleeding from the lower gastrointestinal tract (small intestine, large intestine, and anus). MW, YH 10051746 lower gastrointestinal hemorrhage AE CTCAE: E10861 NCIt: C78438 OAE:0003357 a hemorrhage AE that has bleeding from the duodenum. MW, YH 10055242 duodenal hemorrhage AE CTCAE: E10588 NCIt: C78257 OAE:0003358 a hemorrhage AE that has bleeding from the ileal wall. MW, YH 10055287 ileal hemorrhage AE CTCAE: E10783 NCIt: C78353 OAE:0003359 a hemorrhage AE that has bleeding in the abdominal cavity. MW, YH 10055291 intra-abdominal hemorrhage AE CTCAE: E10817 NCIt: C78372 OAE:0003360 a hemorrhage AE that has bleeding from the jejunal wall. MW, YH 10055300 jejunal hemorrhage AE CTCAE: E10828 NCIt: C78397 OAE:0003361 a hemorrhage AE that has the finding of bleeding occurring after a surgical procedure. MW, YH 10055322 postoperative hemorrhage AE CTCAE: E11903 NCIt: C34938 OAE:0003362 a hemorrhage AE that has the finding of bleeding from the trachea. MW, YH 10062548 tracheal hemorrhage AE CTCAE: E11969 NCIt: C78642 OAE:0003363 a hemorrhage AE that has bleeding from the cecum. MW, YH 10065747 cecal hemorrhage AE CTCAE: E10511 NCIt: C78234 OAE:0003364 an anus AE that has a narrowing of the lumen of the anal canal. MW, YH 10002176 anal stenosis AE CTCAE: E10490 NCIt: C78173 OAE:0003365 a digestive system AE that has an abnormal communication between the bile ducts and another organ or anatomic site. MW, YH 10004665 biliary fistula AE CTCAE: E11179 NCIt: C79540 OAE:0003366 a digestive system AE that has subject-reported feeling of uncomfortable fullness of the abdomen. MW, YH 10005265 bloating AE CTCAE: E10508 NCIt: C78213 OAE:0003367 a digestive system AE that has an abnormal communication between the large intestine and another organ or anatomic site. MW, YH 10009995 colonic fistula AE CTCAE: E10527 NCIt: C78239 OAE:0003368 a digestive system AE that has blockage of the normal flow of the intestinal contents in the colon. MW, YH 10010000 colonic obstruction AE CTCAE: E10539 NCIt: C78241 OAE:0003369 a digestive system AE that has a rupture in the colonic wall. MW, YH 10010001 colonic perforation AE CTCAE: E10545 NCIt: C78242 OAE:0003370 a digestive system AE that has a circumscribed, inflammatory and necrotic erosive lesion on the mucosal surface of the colon. MW, YH 10010006 colonic ulcer AE CTCAE: E10556 NCIt: C78244 OAE:0003371 a duodenum AE that has an abnormal communication between the duodenum and another organ or anatomic site. MW, YH 10013828 duodenal fistula AE CTCAE: E10582 NCIt: C78256 OAE:0003372 a duodenum AE that has blockage of the normal flow of stomach contents through the duodenum. MW, YH 10013830 duodenal obstruction AE CTCAE: E10594 NCIt: C79548 OAE:0003373 a duodenum AE that has a rupture in the duodenal wall. MW, YH 10013832 duodenal perforation AE CTCAE: E10600 NCIt: C78259 OAE:0003374 an esophagus AE that has blockage of the normal flow of the contents in the esophagus. MW, YH 10015387 esophageal obstruction AE CTCAE: E10655 NCIt: C78279 OAE:0003375 an esophagus AE that has a circumscribed, inflammatory and necrotic erosive lesion on the mucosal surface of the esophageal wall. MW, YH 10015451 esophageal ulcer AE CTCAE: E10676 NCIt: C26950 OAE:0003376 a digestive system AE that has an abnormal communication between the gallbladder and another organ or anatomic site. MW, YH 10017631 gallbladder fistula AE CTCAE: E11189 NCIt: C78305 OAE:0003377 a digestive system AE that has blockage of the normal flow of the contents of the gallbladder. MW, YH 10017636 gallbladder obstruction AE CTCAE: E11198 NCIt: C78308 OAE:0003378 a gastrointestinal perforation AE that occurs in the stomach wall. MW, YH 10017815 gastric perforation AE CTCAE: E10716 NCIt: C78316 OAE:0003379 a gastrointestinal disoder AE that has an abnormal communication between any part of the gastrointestinal system and another organ or anatomic site. MW, YH 10017877 gastrointestinal fistula AE CTCAE: E10749 NCIt: C78319 OAE:0003380 a gastric AE that has an incomplete paralysis of the muscles of the stomach wall resulting in delayed emptying of the gastric contents into the small intestine. MW, YH 10018043 gastroparesis AE CTCAE: E10759 NCIt: C80512 OAE:0003381 a digestive system AE that has a narrowing of the lumen of the ileum. MW, YH 10021307 ileal stenosis AE CTCAE: E10800 NCIt: C78356 OAE:0003382 a digestive system AE that has a circumscribed, inflammatory and necrotic erosive lesion on the mucosal surface of the ileum. MW, YH 10021309 ileal ulcer AE CTCAE: E10806 NCIt: C78357 OAE:0003383 a digestive system AE that has a rupture in the jejunal wall. MW, YH 10023174 jejunal perforation AE CTCAE: E10840 NCIt: C78399 OAE:0003384 a digestive system AE that has a narrowing of the lumen of the jejunum. MW, YH 10023176 jejunal stenosis AE CTCAE: E10845 NCIt: C78400 OAE:0003385 a digestive system AE that has a circumscribed, inflammatory and necrotic erosive lesion on the mucosal surface of the jejunum. MW, YH 10023177 jejunal ulcer AE CTCAE: E10851 NCIt: C78401 OAE:0003386 a digestive system AE that has inadequate absorption of nutrients in the small intestine. Symptoms include abdominal marked discomfort, bloating and diarrhea. MW, YH 10025476 malabsorption AE CTCAE: E10867 NCIt: C3214 OAE:0003387 a digestive system AE that has blockage of the normal flow of the contents in the stomach. MW, YH 10029957 obstruction gastric AE CTCAE: E10882 NCIt: C78505 OAE:0003388 a digestive system AE that has a rupture in the wall of the extrahepatic or intrahepatic bile duct. MW, YH 10034405 perforation bile duct AE CTCAE: E11234 NCIt: C78528 OAE:0003389 a digestive system AE that has an abnormal communication between the rectum and another organ or anatomic site. MW, YH 10038062 rectal fistula AE CTCAE: E10949 NCIt: C79713 OAE:0003390 a digestive system AE that has a rupture in the rectal wall. MW, YH 10038073 rectal perforation AE CTCAE: E10981 NCIt: C78588 OAE:0003391 a digestive system AE that has a narrowing of the lumen of the rectum. MW, YH 10038079 rectal stenosis AE CTCAE: E10986 NCIt: C78589 OAE:0003392 a digestive system AE that has a circumscribed, inflammatory and necrotic erosive lesion on the mucosal surface of the rectum. MW, YH 10038080 rectal ulcer AE CTCAE: E10992 NCIt: C78590 OAE:0003393 a digestive system AE that has an abnormal communication between a salivary gland and another organ or anatomic site. MW, YH 10039411 salivary gland fistula AE CTCAE: E11009 NCIt: C79715 OAE:0003394 a digestive system AE that has a rupture in the small intestine wall. MW, YH 10041103 small intestinal perforation AE CTCAE: E11027 NCIt: C78616 OAE:0003395 a digestive system AE that has an abnormal communication between the pancreas and another organ or anatomic site. MW, YH 10049192 pancreatic fistula AE CTCAE: E10914 NCIt: C79701 OAE:0003396 a duodenum AE that has a narrowing of the lumen of the duodenum. MW, YH 10050094 duodenal stenosis AE CTCAE: E10605 NCIt: C78260 OAE:0003397 a digestive system AE that has a narrowing of the lumen of the bile duct. MW, YH 10051341 bile duct stenosis AE CTCAE: E11173 NCIt: C78182 OAE:0003398 a gastric disorder AE that has a necrotic process occurring in the gastric wall. MW, YH 10051886 gastric necrosis AE CTCAE: E10712 NCIt: C78314 OAE:0003399 a digestive system AE that has a necrotic process occurring in the pancreas. MW, YH 10058096 pancreatic necrosis AE CTCAE: E10926 NCIt: C78522 OAE:0003400 a digestive system AE that has a necrotic process occurring in the gallbladder. MW, YH 10059446 gallbladder necrosis AE CTCAE: E11195 NCIt: C78307 OAE:0003401 a gastric disorder AE that has a narrowing of the lumen of the stomach. MW, YH 10061970 gastric stenosis AE CTCAE: E10721 NCIt: C78317 OAE:0003402 a digestive system AE that has an abnormal communication between the urinary bladder and the intestine. MW, YH 10062570 enterovesical fistula AE CTCAE: E10633 NCIt: C78266 OAE:0003403 a digestive system AE that has a narrowing of the lumen of the pancreatic duct. MW, YH 10065703 pancreatic duct stenosis AE CTCAE: E10908 NCIt: C78519 OAE:0003404 a digestive system AE that has a necrotic process occurring in the peritoneum. MW, YH 10065704 peritoneal necrosis AE CTCAE: E10939 NCIt: C78543 OAE:0003405 a digestive system AE that has blockage of the normal flow of the intestinal contents in the rectum. MW, YH 10065707 rectal obstruction AE CTCAE: E10971 NCIt: C78586 OAE:0003406 a gastrointestinal disoder AE that has the finding of a necrotic process occurring in the gastrointestinal tract stoma. MW, YH 10065712 gastrointestinal stoma necrosis CTCAE: E11721 NCIt: C78321 OAE:0003407 a gastric disorder AE that has an abnormal communication between the stomach and another organ or anatomic site. MW, YH 10065713 gastric fistula AE CTCAE: E10700 NCIt: C79595 OAE:0003408 a digestive system AE that has an abnormal communication between the jejunum and another organ or anatomic site. MW, YH 10065719 jejunal fistula AE CTCAE: E10822 NCIt: C78396 OAE:0003409 an anus AE that has a necrotic process occurring in the anal region. MW, YH 10065722 anal necrosis AE CTCAE: E10482 NCIt: C78171 OAE:0003410 an esophagus AE that has a necrotic process occurring in the esophageal wall. MW, YH 10065727 esophageal necrosis AE CTCAE: E10651 NCIt: C78278 OAE:0003411 a digestive system AE that has an abnormal communication between the ileum and another organ or anatomic site. MW, YH 10065728 ileal fistula AE CTCAE: E10777 NCIt: C78352 OAE:0003412 a digestive system AE that has blockage of the normal flow of the intestinal contents in the ileum. MW, YH 10065730 ileal obstruction AE CTCAE: E10789 NCIt: C78354 OAE:0003413 a digestive system AE that has blockage of the normal flow of the intestinal contents in the jejunum. MW, YH 10065732 jejunal obstruction AE CTCAE: E10834 NCIt: C78398 OAE:0003414 an esophagus AE that has an abnormal communication between the esophagus and another organ or anatomic site. MW, YH 10065851 esophageal fistula AE CTCAE: E10639 NCIt: C79574 OAE:0003415 an eye AE that has dryness of the cornea and conjunctiva. MW, YH 10013774 dry eye AE CTCAE: E10363 NCIt: C34553 OAE:0003416 an eye AE that has a sudden or brief burst of light. MW, YH 10016757 flashing lights AE CTCAE: E10384 NCIt: C50568 OAE:0003417 an eye AE that has an individual seeing spots before their eyes. The spots are shadows of opaque cell fragments in the vitreous humor or lens. MW, YH 10016778 floaters AE CTCAE: E10388 NCIt: C37955 OAE:0003418 an eye AE that has an inability to see clearly in dim light. MW, YH 10029404 night blindness AE CTCAE: E10401 NCIt: C34850 OAE:0003419 an eye AE that has a small laceration of the retina, this occurs when the vitreous separates from the retina. Symptoms include flashes and floaters. MW, YH 10038897 retinal tear AE CTCAE: E10425 NCIt: C50732 OAE:0003420 an eye AE that has pathological retinal blood vessels that adversely affects vision. MW, YH 10038901 retinal vascular disorder AE CTCAE: E10429 NCIt: C35170 OAE:0003421 an eye AE that has blood extravasation into the vitreous humor. MW, YH 10047656 vitreous hemorrhage AE CTCAE: E10447 NCIt: C50469 OAE:0003422 an eye AE that has excessive tearing in the eyes; it can be caused by overproduction of tears or impaired drainage of the tear duct. MW, YH 10047848 watering eyes AE CTCAE: E10452 NCIt: C78717 OAE:0003423 an eye AE that has involvement of the optic nerve (second cranial nerve). MW, YH 10061322 optic nerve disorder AE CTCAE: E10406 NCIt: C79698 OAE:0003424 an eye AE that has involvement of the sclera of the eye. MW, YH 10061510 scleral disorder AE CTCAE: E10437 NCIt: C79717 OAE:0003425 an ear AE that has dizziness, imbalance, nausea, and vision problems. MW, YH 10047386 vestibular disorder AE CTCAE: E10295 NCIt: C27166 OAE:0003426 an ear pain AE that has a sensation of marked discomfort in the external ear region. MW, YH 10065785 external ear pain AE CTCAE: E10272 NCIt: C78285 OAE:0003427 a cardiovascular AE that has a thickened and fibrotic pericardial sac; these fibrotic changes impede normal myocardial function by restricting myocardial muscle action. MW, YH 10010783 constrictive pericarditis AE CTCAE: E10120 NCIt: C78246 OAE:0003428 a cardiovascular AE that has a dysrhythmia with alternating periods of bradycardia and atrial tachycardia accompanied by syncope, fatigue and dizziness. MW, YH 10040639 sick sinus syndrome AE CTCAE: E10202 NCIt: C62244 OAE:0003429 a cardiovascular AE that has an increase in intrapericardial pressure due to the collection of blood or fluid in the pericardium. MW, YH 10053565 pericardial tamponade AE CTCAE: E10177 NCIt: C50481 OAE:0003430 a cardiovascular AE that has a defect in tricuspid valve function or structure. MW, YH 10061389 tricuspid valve disease AE CTCAE: E10224 NCIt: C78649 OAE:0003431 a cardiovascular AE that has a defect in mitral valve function or structure. MW, YH 10061532 mitral valve disease AE CTCAE: E10134 NCIt: C78446 OAE:0003432 a cardiovascular AE that has a defect in pulmonary valve function or structure. MW, YH 10061541 pulmonary valve disease AE CTCAE: E10186 NCIt: C78579 OAE:0003433 a cardiovascular AE that has a defect in aortic valve function or structure. MW, YH 10061589 aortic valve disease AE CTCAE: E10071 NCIt: C78650 OAE:0003434 a bone AE that has a change in tooth hue or tint. MW, YH 10044031 tooth discoloration AE CTCAE: E11052 NCIt: C80112 OAE:0003435 an edema AE that has swelling due to an accumulation of excessive fluid in the neck. MW, YH 10054482 neck edema AE CTCAE: E11159 NCIt: C78501 OAE:0003436 an edema AE that has swelling due to excessive fluid accumulation in the trunk area. MW, YH 10058720 edema trunk AE CTCAE: E11090 NCIt: C78263 OAE:0003437 an inflammation AE that has inflammation of the rectum. MW, YH 10036774 proctitis AE CTCAE: E10943 NCIt: C38011 OAE:0003438 an inflammation AE that has inflammation of the mucous membrane of the rectum MW, YH 10063190 rectal mucositis AE CTCAE: E10961 NCIt: C78584 OAE:0003439 an inflammation AE that has inflammation of the mucous membrane of the anus. MW, YH 10065721 anal mucositis AE CTCAE: E10476 NCIt: C78170 OAE:0003440 an inflammation AE that has inflammation, swelling and redness to the outer ear and ear canal. MW, YH 10065837 external ear inflammation AE CTCAE: E10266 NCIt: C79601 OAE:0003441 an inflammation AE that has inflammation (physiologic response to irritation), swelling and redness to the middle ear. MW, YH 10065838 middle ear inflammation AE CTCAE: E10281 NCIt: C34885 OAE:0003442 a death AE that has cessation of life occurring during the first 28 days of life. MW, YH 10011912 death neonatal AE CTCAE: E11078 NCIt: C80082 OAE:0003443 a fracture AE that has a break in the continuity of the ankle bone. Symptoms include marked discomfort, swelling and difficulty moving the affected leg and foot. MW, YH 10002544 ankle fracture AE CTCAE: E11640 NCIt: C26989 OAE:0003444 a fracture AE that has the finding of traumatic injury to the hip in which the continuity of either the femoral head, femoral neck, intertrochanteric or subtrochanteric regions is broken. MW, YH 10020100 hip fracture AE CTCAE: E11726 NCIt: C26794 OAE:0003445 a fracture AE that has the finding of traumatic injury to the spine in which the continuity of a vertebral bone is broken. MW, YH 10041569 spinal fracture AE CTCAE: E11954 NCIt: C80516 OAE:0003446 a fracture AE that has the finding of traumatic injury to the wrist joint in which the continuity of a wrist bone is broken. MW, YH 10048049 wrist fracture AE CTCAE: E12069 NCIt: C80517 OAE:0003447 a lung infection AE that has an infectious process involving the bronchi. MW, YH 10055078 bronchial infection AE CTCAE: E11323 NCIt: C2911 OAE:0003448 a muscle enzyme level increased AE that has the finding based on laboratory test results that indicate an increase in levels of creatine phosphokinase in a blood specimen. MW, YH 10011268 CPK increased AE CTCAE: E12132 NCIt: C78247 OAE:0003449 a recall phenomenon AE that has the finding of acute skin inflammatory reaction caused by drugs, especially chemotherapeutic agents, for weeks or months following radiotherapy. The inflammatory reaction is confined to the previously irradiated skin and the symptoms disappear after the removal of the pharmaceutical agent. MW, YH 10037767 radiation recall reaction (dermatologic) AE CTCAE: E11926 NCIt: C78580 OAE:0003450 an immunology and allergy investigation result abnormal AE that has the finding based on laboratory test results that indicate an decrease in levels of CD4 lymphocytes in a blood specimen. MW, YH 10007839 CD4 lymphocytes decreased AE CTCAE: E12122 NCIt: C78233 OAE:0003451 a respiratory and pulmonary investigation result abnormal AE that has the finding based on pulmonary function test results that indicate an abnormal vital capacity (amount of exhaled after a maximum inhalation) when compared to the predicted value. MW, YH 10047580 vital capacity abnormal AE CTCAE: E12220 NCIt: C78715 OAE:0003452 a respiratory and pulmonary investigation result abnormal AE that has the finding based on lung function test results that indicate a decrease in the lung capacity to absorb carbon monoxide. MW, YH 10065906 carbon monoxide diffusing capacity decreased AE CTCAE: E12112 NCIt: C78229 OAE:0003453 an endocrine investigation result abnormal AE that has the finding based on laboratory test results that indicate abnormal levels of antidiuretic hormone in the blood specimen. MW, YH 10005332 blood antidiuretic hormone abnormal AE CTCAE: E12092 NCIt: C78214 OAE:0003454 an endocrine investigation result abnormal AE that has the finding based on laboratory test results that indicate an decrease in levels of corticotrophin in a blood specimen. MW, YH 10005452 blood corticotrophin decreased AE CTCAE: E12101 NCIt: C78215 OAE:0003455 an endocrine investigation result abnormal AE that has the finding based on laboratory test results that indicate abnormal levels of gonadotrophin hormone in a blood specimen. MW, YH 10005561 blood gonadotrophin abnormal AE CTCAE: E12105 NCIt: C78216 OAE:0003456 an endocrine investigation result abnormal AE that has the finding based on laboratory test results that indicate abnormal levels of prolactin hormone in a blood specimen. MW, YH 10005778 blood prolactin abnormal AE CTCAE: E12109 NCIt: C78217 OAE:0003457 an endocrine investigation result abnormal AE that has the finding based on laboratory test results that indicate abnormal levels of growth hormone in a biological specimen. MW, YH 10018748 growth hormone abnormal AE CTCAE: E12166 NCIt: C78327 OAE:0003458 an enzyme investigation result abnormal AE that has the finding based on laboratory test results that indicate an decrease in levels of pancreatic enzymes in a biological specimen. MW, YH 10062646 pancreatic enzymes decreased AE CTCAE: E12203 NCIt: C78520 OAE:0003459 a hematology investigation result abnormal AE that has the finding based on laboratory test results that indicate an decrease in levels of fibrinogen in a blood specimen. MW, YH 10016596 fibrinogen decreased AE CTCAE: E12151 NCIt: C78300 OAE:0003460 a hematology investigation result abnormal with the finding based on laboratory test results that indicate an decrease in levels of haptoglobin in a blood specimen. MW, YH 10019150 haptoglobin decreased AE CTCAE: E12169 NCIt: C78330 OAE:0003461 a coronary heart disease AE that has signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction. MW, YH 10051592 acute coronary syndrome AE CTCAE: E10066 NCIt: C53652 OAE:0003462 an eyelid disorder AE that has impaired eyelid function. MW, YH 10061145 eyelid function disorder AE CTCAE: E10380 NCIt: C78288 OAE:0003463 an injury AE that has the finding of damage to the aorta. MW, YH 10002899 aortic injury AE CTCAE: E11644 NCIt: C35623 OAE:0003464 an injury AE that has the finding of damage to an artery MW, YH 10003162 arterial injury AE CTCAE: E11648 NCIt: C35401 OAE:0003465 an injury AE that has the finding of damage to the carotid artery. MW, YH 10022161 injury to carotid artery AE CTCAE: E11730 NCIt: C79599 OAE:0003466 an injury AE that has the finding of damage to the inferior vena cava. MW, YH 10022213 injury to inferior vena cava AE CTCAE: E11734 NCIt: C78363 OAE:0003467 an injury AE that has the finding of damage to the superior vena cava. MW, YH 10022356 injury to superior vena cava AE CTCAE: E11741 NCIt: C78365 OAE:0003468 an injury AE that has the finding of damage to the gastrointestinal system during a surgical procedure. MW, YH 10065825 intraoperative gastrointestinal injury AE CTCAE: E11798 NCIt: C78380 OAE:0003469 an injury AE that has the finding of damage to an artery during a surgical procedure. MW, YH 10065826 intraoperative arterial injury AE CTCAE: E11770 NCIt: C78375 OAE:0003470 an injury AE that has the finding of damage to the hepatic parenchyma and/or biliary tract during a surgical procedure. MW, YH 10065827 intraoperative hepatobiliary injury AE CTCAE: E11814 NCIt: C78382 OAE:0003471 an injury AE that has the finding of damage to the urinary system during a surgical procedure. MW, YH 10065828 intraoperative urinary injury AE CTCAE: E11867 NCIt: C78391 OAE:0003472 an injury AE that has the finding of damage to the musculoskeletal system during a surgical procedure. MW, YH 10065829 intraoperative musculoskeletal injury AE CTCAE: E11820 NCIt: C78383 OAE:0003473 an injury AE that has the finding of damage to the nervous system during a surgical procedure. MW, YH 10065830 intraoperative neurological injury AE CTCAE: E11826 NCIt: C78384 OAE:0003474 an injury AE that has the finding of damage to the breast parenchyma during a surgical procedure. MW, YH 10065831 intraoperative breast injury AE CTCAE: E11776 NCIt: C78376 OAE:0003475 an injury AE that has the finding of damage to the respiratory system during a surgical procedure. MW, YH 10065832 intraoperative respiratory injury AE CTCAE: E11850 NCIt: C78388 OAE:0003476 an injury AE that has the finding of damage to the endocrine gland during a surgical procedure. MW, YH 10065834 intraoperative endocrine injury AE CTCAE: E11792 NCIt: C78379 OAE:0003477 an injury AE that has the finding of damage to the reproductive organs during a surgical procedure. MW, YH 10065840 intraoperative reproductive tract injury AE CTCAE: E11844 NCIt: C78387 OAE:0003478 an injury AE that has the finding of damage to the eye during a surgical procedure. MW, YH 10065841 intraoperative ocular injury AE CTCAE: E11832 NCIt: C78385 OAE:0003479 an injury AE that has the finding of damage to the head and neck during a surgical procedure. MW, YH 10065842 lintraoperative head and neck injury AE CTCAE: E11804 NCIt: C78381 OAE:0003480 an injury AE that has the finding of damage to the heart during a surgical procedure. MW, YH 10065843 intraoperative cardiac injury AE CTCAE: E11782 NCIt: C78377 OAE:0003481 an injury AE that has the finding of damage to the ear during a surgical procedure. MW, YH 10065844 intraoperative ear injury AE CTCAE: E11786 NCIt: C78378 OAE:0003482 an injury AE that has the finding of damage to the kidney during a surgical procedure. MW, YH 10065845 intraoperative renal injury AE CTCAE: E11838 NCIt: C78386 OAE:0003483 an injury AE finding of damage to the skin during a surgical procedure. MW, YH 10065846 intraoperative skin injury AE CTCAE: E11856 NCIt: C78389 OAE:0003484 an injury AE that has the finding of damage to the spleen during a surgical procedure. MW, YH 10065847 intraoperative splenic injury AE CTCAE: E11862 NCIt: C78390 OAE:0003485 an injury AE that has the finding of damage to a vein during a surgical procedure. MW, YH 10065848 intraoperative venous injury AE CTCAE: E11873 NCIt: C78392 OAE:0003486 an injury AE that has the finding of damage to the jugular vein. MW, YH 10065849 injury to jugular vein AE CTCAE: E11737 NCIt: C78364 OAE:0003487 an appendicitis AE that has acute inflammation to the vermiform appendix caused by a pathogenic agent with gangrenous changes resulting in the rupture of the appendiceal wall. The appendiceal wall rupture causes the release of inflammatory and bacterial contents from the appendiceal lumen into the abdominal cavity. MW, YH 10003012 appendicitis perforated AE CTCAE: E11296 NCIt: C78178 OAE:0003488 a troponin AE which indicates increased levels of cardiac troponin T in a biological specimen MW, YH 10007613 cardiac troponin T increased CTCAE: E12119 NCIt: C78231 OAE:0003489 an eye infection AE that has an infectious process involving the conjunctiva. Clinical manifestations include pink or red color in the eyes. MW, YH 10010742 conjunctivitis infective AE CTCAE: E11342 NCIt: C35704 OAE:0003490 an eye infection AE that has an infectious process involving the internal structures of the eye. MW, YH 10014801 endophthalmitis AE CTCAE: E11377 NCIt: C34586 OAE:0003491 an eye infection AE that has an infectious process involving the orbit of the eye. MW, YH 10051472 periorbital infection AE CTCAE: E11511 NCIt: C78531 OAE:0003492 an eye infection AE that has an infectious process involving the cornea. MW, YH 10061788 corneal infection AE CTCAE: E11347 NCIt: C26805 OAE:0003493 a fatigue AE that has fatigue relieved by rest MW, YH Grade 1 fatigue AE CTCAE: E11099 OAE:0003494 a fatigue AE that has fatigue not relieved by rest; limiting instrumental activities of daily living MW, YH Grade 2 fatigue AE CTCAE: E11100 OAE:0003495 a fatigue AE that has fatigue not relieved by rest, limiting self care activities of daily living MW, YH Grade 3 fatigue AE CTCAE: E11101 OAE:0003496 a myocardial infarction AE that has asymptomatic and cardiac enzymes minimally abnormal and no evidence of ischemic ECG changes MW, YH Grade 2 myocardial infarction AE CTCAE: E10153 OAE:0003497 a myocardial infarction AE that has severe symptoms; cardiac enzymes abnormal; hemodynamically stable; ECG changes consistent with infarction MW, YH Grade 3 myocardial infarction AE CTCAE: E10154 OAE:0003498 a pancreatitis AE that has enzyme elevation or radiologic findings only MW, YH Grade 3 pancreatitis AE CTCAE: E10931 OAE:0003499 a pancreatitis AE that has severe pain; vomiting; medical intervention indicated (e.g., analgesia, nutritional support) MW, YH Grade 3 pancreatitis AE CTCAE: E10932 OAE:0003500 an activated partial thromboplastin time prolonged AE that is greater than the upper limit of normal to 1.5 times the upper limit of normal MW, YH Grade 1 activated partial thromboplastin time prolonged AE CTCAE: E12074 OAE:0003501 an activated partial thromboplastin time prolonged AE that is 1.5-2.5 times the upper limit of normal MW, YH Grade 2 activated partial thromboplastin time prolonged AE CTCAE: E12075 OAE:0003502 an activated partial thromboplastin time prolonged AE that is greater than 2.5 times the upper limit of normal; hemorrhage MW, YH Grade 3 activated partial thromboplastin time prolonged AE CTCAE: E12076 OAE:0003503 an alanine aminotransferase level increased AE that is greater than the upper limit of normal to 3 times the upper limit of normal MW, YH Grade 1 alanine aminotransferase level increased AE CTCAE: E12078 OAE:0003504 an alanine aminotransferase level increased AE that is greater than 3 to 5 times the upper limit of normal MW, YH Grade 2 alanine aminotransferase level increased AE CTCAE: E12079 OAE:0003505 an alanine aminotransferase level increased AE that is greater than 5 to 20 times the upper limit of normal MW, YH Grade 3 alanine aminotransferase level increased AE CTCAE: E12080 OAE:0003506 an alanine aminotransferase level increased AE that is greater than 20 times the upper limit of normal MW, YH Grade 4 alanine aminotransferase level increased AE CTCAE: E12081 OAE:0003507 an anal ulcer AE that is symptomatic; altered GI function MW, YH Grade 2 anal ulcer AE CTCAE: E10498 OAE:0003508 an anal ulcer AE that has severely altered GI function; TPN indicated; elective operative or endoscopic intervention indicated; disabling MW, YH Grade 3 anal ulcer AE CTCAE: E10499 OAE:0003509 an atrial flutter AE that has symptomatic and incompletely controlled medically, or controlled with device (e.g., pacemaker), or ablation MW, YH Grade 3 atrial flutter AE CTCAE: E10090 OAE:0003510 an otitis media AE that is localized; local intervention indicated (e.g., topical antibiotic, antifungal, or antiviral) MW, YH Grade 2 otitis media AE CTCAE: E11478 OAE:0003511 an otitis media AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 otitis media AE CTCAE: E11479 OAE:0003512 a pericarditis AE that has asymptomatic, ECG or physical findings (e.g., rub) consistent with pericarditis MW, YH Grade 1 pericarditis AE CTCAE: E10181 OAE:0003513 a pericarditis AE that has symptomatic pericarditis (e.g., chest pain) MW, YH Grade 2 pericarditis AE CTCAE: E10182 OAE:0003514 a pericarditis AE that has pericarditis with physiologic consequences (e.g., pericardial constriction) MW, YH Grade 3 pericarditis AE CTCAE: E10183 OAE:0003515 a pharyngitis AE that is localized; local intervention indicated (e.g., topical antibiotic, antifungal, or antiviral) MW, YH Grade 2 pharyngitis AE CTCAE: E11526 OAE:0003516 a pharyngitis AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 pharyngitis AE CTCAE: E11527 OAE:0003517 a fever AE that has 38.0 - 39.0 degrees C (100.4 - 102.2 degrees F) MW, YH Grade 1 fever AE CTCAE: E11103 OAE:0003518 a fever AE that has greater than 39.0 - 40.0 degrees C (102.3 - 104.0 degrees F) MW, YH Grade 2 fever AE CTCAE: E11104 OAE:0003519 a fever AE that has greater than 40.0 degrees C (greater than104.0 degrees F) for less than or equal to 24 hrs MW, YH Grade 3 fever AE CTCAE: E11105 OAE:0003520 a fever AE that has greater than 40.0 degrees C (greater than104.0 degrees F) for more than 24 hrs MW, YH Grade 4 fever AE CTCAE: E11106 OAE:0003521 an injection-site adverse event characterized by tenderness with or without associated symptoms (e.g., warmth, erythema, itching) MW, YH Grade 1 injection-site adverse event CTCAE: E11139 OAE:0003522 an injection-site adverse event characterized by pain; lipodystrophy; edema; phlebitis MW, YH Grade 2 injection-site adverse event CTCAE: E11140 OAE:0003523 an injection-site adverse event characterized by ulceration or necrosis; severe tissue damage; operative intervention indicated MW, YH Grade 3 injection-site adverse event CTCAE: E11141 OAE:0003524 a leukocyte cell number increased AE where leukocytes are greater than 100,000/mm3 MW, YH Grade 3 leukocytosis AE CTCAE: E10049 OAE:0003525 a leukocyte cell number increased AE that has clinical manifestations of leucostasis; urgent intervention indicated MW, YH Grade 4 leukocytosis AE CTCAE: E10050 OAE:0003526 a leukocyte cell number decreased AE that is less than the lower limit of normal - 3000/mm3; less than the lower limit of normal - 3.0 x 10e9 /L MW, YH Grade 1 leukocyte cell number decreased AE CTCAE: E12233 OAE:0003527 a leukocyte cell number decreased AE that is less than 3000 - 2000/mm3; less than 3.0 - 2.0 x 10e9 /L MW, YH Grade 2 leukocyte cell number decreased AE CTCAE: E12234 OAE:0003528 a leukocyte cell number decreased AE that is less than 2000 - 1000/mm3; less than 2.0 - 1.0 x 10e9 /L MW, YH Grade 3 leukocyte cell number decreased AE CTCAE: E12235 OAE:0003529 a leukocyte cell number decreased AE that is less than 1000/mm3; less than 1.0 x 10e9 /L MW, YH Grade 4 leukocyte cell number decreased AE CTCAE: E12236 OAE:0003530 a malaise AE that has uneasiness or lack of well being MW, YH Grade 1 malaise AE CTCAE: E11153 OAE:0003531 a malaise AE that has uneasiness or lack of well being; limiting instrumental activities of daily living MW, YH Grade 2 malaise AE CTCAE: E11154 OAE:0003532 a chills AE that has mild sensation of cold; shivering; chattering of teeth MW, YH Grade 1 chills AE CTCAE: E11075 OAE:0003533 A chills AE that has moderate tremor of the entire body; narcotics indicated MW, YH Grade 2 chills AE CTCAE: E11076 OAE:0003534 a chills AE that has severe or prolonged, not responsive to narcotics MW, YH Grade 3 chills AE CTCAE: E11077 OAE:0003535 an edema face AE that has localized facial edema MW, YH Grade 1 edema face AE CTCAE: E11083 OAE:0003536 a meningitis AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated; focal neurologic deficit MW, YH Grade 3 meningitis AE CTCAE: E11459 OAE:0003537 a serum sickness AE that has moderate arthralgia; fever, rash, urticaria, antihistamines indicated MW, YH Grade 2 serum sickness AE CTCAE: E11278 OAE:0003538 a serum sickness AE that has severe arthralgia or arthritis; extensive rash; steroids or IV fluids indicated MW, YH Grade 3 serum sickness AE CTCAE: E11279 OAE:0003539 a urinary tract infection AE that is localized; local intervention indicated (e.g., topical antibiotic, antifungal, or antiviral) MW, YH Grade 2 urinary tract infection AE CTCAE: E11615 OAE:0003540 a urinary tract infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 urinary tract infection AE CTCAE: E11616 OAE:0003541 a laryngitis AE that has moderate symptoms; oral intervention indicated (e.g., antibiotic, antifungal, antiviral) MW, YH Grade 2 laryngitis AE CTCAE: E11436 OAE:0003542 a laryngitis AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 laryngitis AE CTCAE: E11437 OAE:0003543 a dry mouth AE that is symptomatic (e.g., dry or thick saliva) without significant dietary alteration; unstimulated saliva flow greater than0.2 ml/min MW, YH Grade 1 dry mouth AE CTCAE: E10579 OAE:0003544 a dry mouth AE that has moderate symptoms; oral intake alterations (e.g., copious water, other lubricants, diet limited to purees and/or soft, moist foods); unstimulated saliva 0.1 to 0.2 ml/min MW, YH Grade 2 dry mouth AE CTCAE: E10580 OAE:0003545 a dry mouth AE that has the inability to adequately aliment orally; tube feeding or TPN indicated; unstimulated saliva <0.1 ml/min MW, YH Grade 3 dry mouth AE CTCAE: E10581 OAE:0003546 a pustular rash AE that is localized; local intervention indicated (e.g., topical antibiotic, antifungal, or antiviral) MW, YH Grade 2 pustular rash AE CTCAE: E11546 OAE:0003547 a pustular rash AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 pustular rash AE CTCAE: E11547 OAE:0003548 a flatulence AE that has moderate; persistent; psychosocial sequelae MW, YH Grade 2 flatulence AE CTCAE: E10699 OAE:0003549 a weight loss AE that is 5 to less than 10% from baseline; intervention not indicated MW, YH Grade 1 weight loss AE CTCAE: E12229 OAE:0003550 a weight loss AE that is 10 - less than 20% from baseline; nutritional support indicated MW, YH Grade 2 weight loss AE CTCAE: E12230 OAE:0003551 a weight loss AE that is greater than or equal to 20% from baseline; tube feeding or TPN indicated MW, YH Grade 3 weight loss AE CTCAE: E12231 OAE:0003552 an abnormal gait AE that has mild change in gait (e.g., wide-based, limping or hobbling) MW, YH Grade 1 abnormal gait AE CTCAE: E11113 OAE:0003553 an abnormal gait AE that has moderate change in gait (e.g., wide-based, limping or hobbling); assistive device indicated; limiting instrumental activities of daily living MW, YH Grade 2 abnormal gait AE CTCAE: E11114 OAE:0003554 an anemia AE where hemoglobin (Hgb) is less than the lower limit of normal (LLN), which is 10.0 g/dL, 6.2 mmol/L, or 100 g/L. MW, YH Grade 1 anemia AE CTCAE: E10011 OAE:0003555 an anemia AE where hemoglobin (Hgb) is less than 10.0-8.0 g/dL, 6.2 -4.9 mmol/L, or 100 - 80 g/L. MW, YH Grade 2 anemia AE CTCAE: E10012 OAE:0003556 an anemia AE where hemoglobin (Hgb) is less than 8.0 g/dL, 4.9 mmol/L, or 80 g/L. MW, YH Grade 3 anemia AE CTCAE: E10013 OAE:0003557 a sinusitis AE that is localized; local intervention indicated (e.g., topical antibiotic, antifungal, or antiviral) MW, YH Grade 2 sinusitis AE CTCAE: E11564 OAE:0003558 a sinusitis AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic, endoscopic, or operative intervention indicated MW, YH Grade 3 sinusitis AE CTCAE: E11565 OAE:0003559 an allergy AE that has transient flushing or rash, drug fever <38 degrees C (<100.4 degrees F); intervention not indicated MW, YH Grade 1 allergy AE CTCAE: E11249 OAE:0003560 an allergy AE where intervention or infusion interruption indicated; responds promptly to symptomatic treatment (e.g., antihistamines, NSAIDS, narcotics); prophylactic medications indicated for less than or equal to 24 hrs MW, YH Grade 2 allergy AE CTCAE: E11250 OAE:0003561 an allergy AE that is prolonged (e.g., not rapidly responsive to symptomatic medication and/or brief interruption of infusion); recurrence of symptoms following initial improvement; hospitalization indicated for clinical sequelae (e.g., renal impairment, pulmonary infiltrates) MW, YH Grade 3 allergy AE CTCAE: E11251 OAE:0003562 a dysphagia AE that is symptomatic, able to eat regular diet MW, YH Grade 1 dysphagia AE CTCAE: E10622 OAE:0003563 a dysphagia AE that is symptomatic and altered eating/swallowing MW, YH Grade 2 dysphagia AE CTCAE: E10623 OAE:0003564 a dysphagia AE that has severely altered eating/swallowing; tube feeding or TPN or hospitalization indicated MW, YH Grade 3 dysphagia AE CTCAE: E10624 OAE:0003565 a platelet count decreased AE that is less than the lower limit of normal - 75,000/mm3; less than the lower limit of normal - 75.0 x 10e9 /L MW, YH Grade 1 platelet count decreased AE CTCAE: E12208 OAE:0003566 a platelet count decreased AE that is less than 75,000 - 50,000/mm3; less than 75.0 - 50.0 x 10e9 /L MW, YH Grade 2 platelet count decreased AE CTCAE: E12209 OAE:0003567 a platelet count decreased AE that is less than 50,000 - 25,000/mm3; less than 50.0 - 25.0 x 10e9 /L MW, YH Grade 3 platelet count decreased AE CTCAE: E12210 OAE:0003568 a platelet count decreased AE that is less than 25,000/mm3; less than 25.0 x 10e9 /L MW, YH Grade 4 platelet count decreased AE CTCAE: E12211 OAE:0003569 a vomiting AE that has 1 - 2 episodes (separated by 5 minutes) in 24 hrs MW, YH Grade 1 vomiting AE CTCAE: E11069 OAE:0003570 a vomiting AE that has 3 - 5 episodes (separated by 5 minutes) in 24 hrs MW, YH Grade 2 vomiting AE CTCAE: E11070 OAE:0003571 a vomiting AE that has 6 or more episodes (separated by 5 minutes) in 24 hrs; tube feeding, TPN or hospitalization indicated MW, YH Grade 3 vomiting AE CTCAE: E11071 OAE:0003572 a constipation AE that has occasional or intermittent symptoms; occasional use of stool softeners, laxatives, dietary modification, or enema MW, YH Grade 1 constipation AE CTCAE: E10563 OAE:0003573 a constipation AE that has persistent symptoms with regular use of laxatives or enemas; limiting instrumental activities of daily living MW, YH Grade 2 constipation AE CTCAE: E10564 OAE:0003574 a constipation AE that has obstipation with manual evacuation indicated; limiting self care activities of daily living MW, YH Grade 3 constipation AE CTCAE: E10565 OAE:0003575 a lymphocyte count increased AE that is greater than 4000/mm3 - 20,000/mm3 MW, YH Grade 2 lymphocyte count increased AE CTCAE: E12196 OAE:0003576 a lymphocyte count increased AE that is greater than 20,000/mm3 MW, YH Grade 3 lymphocyte count increased AE CTCAE: E12197 OAE:0003577 a hypothermia AE that has 35 - greater than 32 degrees C; 95 - greater than 89.6 degrees F MW, YH Grade 2 hypothermia AE CTCAE: E11123 OAE:0003578 a hypothermia AE that has 32 - greater than 28 degrees C; 89.6 - greater than 82.4 degrees F MW, YH Grade 3 hypothermia AE CTCAE: E11124 OAE:0003579 a hypothermia AE that has less than or equal to 28 degrees C; 82.4 degrees F; life-threatening consequences (e.g., coma, hypotension, pulmonary edema, acidemia, ventricular fibrillation) MW, YH Grade 4 hypothermia AE CTCAE: E11125 OAE:0003580 a hematoma AE that is localized or in a dependent area MW, YH Grade 1 hematoma AE CTCAE: E11667 OAE:0003581 a hematoma AE that is generalized MW, YH Grade 2 hematoma AE CTCAE: E11668 OAE:0003582 an aspartate aminotransferase level increased AE that is greater than the upper limit of normal to 3 times the upper limit of normal MW, YH Grade 1 aspartate aminotransferase level increased AE CTCAE: E12088 OAE:0003583 an aspartate aminotransferase level increased AE that is greater than 3 to 5 times the upper limit of normal MW, YH Grade 2 aspartate aminotransferase level increased AE CTCAE: E12089 OAE:0003584 an aspartate aminotransferase level increased AE that is greater than 5 to 20 times the upper limit of normal MW, YH Grade 3 aspartate aminotransferase level increased AE CTCAE: E12090 OAE:0003585 an aspartate aminotransferase level increased AE that is greater than 20 times the upper limit of normal MW, YH Grade 4 aspartate aminotransferase level increased AE CTCAE: E12091 OAE:0003586 an atrial fibrillation AE that has symptomatic and incompletely controlled medically, or controlled with device (e.g., pacemaker), or ablation MW, YH Grade 3 atrial fibrillation AE CTCAE: E10084 OAE:0003587 a blood alkaline phosphatase increased AE that is greater than the upper limit of normal to 2.5 times the upper limit of normal MW, YH Grade 1 blood alkaline phosphatase increased AE CTCAE: E12083 OAE:0003588 a blood alkaline phosphatase increased AE that is greater than 2.5 to 5 times the upper limit of normal MW, YH Grade 2 blood alkaline phosphatase increased AE CTCAE: E12084 OAE:0003589 a blood alkaline phosphatase increased AE that is greater than 5 to 20 times the upper limit of normal MW, YH Grade 3 blood alkaline phosphatase increased AE CTCAE: E12085 OAE:0003590 a blood alkaline phosphatase increased AE that is greater than 20 times the upper limit of normal MW, YH Grade 4 blood alkaline phosphatase increased AE CTCAE: E12086 OAE:0003591 a blood amylase level increased AE that is greater than the upper limit of normal - 1.5 times the upper limit of normal MW, YH Grade 1 blood amylase level increased AE CTCAE: E12213 OAE:0003592 a blood amylase level increased AE that is greater than 1.5 - 2.0 times the upper limit of normal MW, YH Grade 2 blood amylase level increased AE CTCAE: E12214 OAE:0003593 a blood amylase level increased AE that is greater than 2.0 - 5.0 times the upper limit of normal MW, YH Grade 3 blood amylase level increased AE CTCAE: E12215 OAE:0003594 a blood amylase level increased AE that is greater than 5.0 times the upper limit of normal MW, YH Grade 4 blood amylase level increased AE CTCAE: E12216 OAE:0003595 a blood bilirubin level increased AE that is greater than the upper limit of normal to 1.5 times the upper limit of normal MW, YH Grade 1 blood bilirubin level increased AE CTCAE: E12097 OAE:0003596 a blood bilirubin level increased AE that is greater than 1.5 to 3 times the upper limit of normal MW, YH Grade 2 blood bilirubin level increased AE CTCAE: E12098 OAE:0003597 a blood bilirubin level increased AEgreater than3.0 - 10.0 x upper limit of normal MW, YH Grade 3 blood bilirubin level increased AE CTCAE: E12099 OAE:0003598 a blood bilirubin level increased AE that is greater than 10 times the upper limit of normal MW, YH Grade 4 blood bilirubin level increased AE CTCAE: E12100 OAE:0003599 a blood cholesterol increased AE that is greater than the upper limit of normal to 300 mg/dL; greater than the upper limit of normal to 7.75 mmol/L MW, YH Grade 1 blood cholesterol increased AE CTCAE: E12128 OAE:0003600 a blood cholesterol increased AE that is greater than 300 - 400 mg/dL; greater than 7.75 - 10.34 mmol/L MW, YH Grade 2 blood cholesterol increased AE CTCAE: E12129 OAE:0003601 a blood cholesterol increased AE that is greater than 400 - 500 mg/dL; greater than 10.34 - 12.92 mmol/L MW, YH Grade 3 blood cholesterol increased AE CTCAE: E12130 OAE:0003602 a blood cholesterol increased AE that is greater than 500 mg/dL; greater than 12.92 mmol/L MW, YH Grade 4 blood cholesterol increased AE CTCAE: E12131 OAE:0003603 a blood creatinine level increased AE that is greater than 1 - 1.5 times the baseline; greater than the upper limit of normal - 1.5 times the upper limit of normal MW, YH Grade 1 blood creatinine level increased AE CTCAE: E12138 OAE:0003604 a blood creatinine level increased AE that is greater than 1.5 - 3.0 times the baseline; greater than 1.5 - 3.0 times the upper limit of normal MW, YH Grade 2 blood creatinine level increased AE CTCAE: E12139 OAE:0003605 a blood creatinine level increased AE that is greater than 3.0 times the baseline; greater than 3.0 - 6.0 times the upper limit of normal MW, YH Grade 3 blood creatinine level increased AE CTCAE: E12140 OAE:0003606 a blood creatinine level increased AE that is greater than 6.0 times the upper limit of normal MW, YH Grade 4 blood creatinine level increased AE CTCAE: E12141 OAE:0003607 a bone marrow depression AE categorized as mildly hypocellular or less than or equal to 25% reduction from normal cellularity for age MW, YH Grade 1 bone marrow depression AE CTCAE: E10023 OAE:0003608 a bone marrow depression AE categorized as moderately hypocellular or greater than 25 to less than 50% reduction from normal cellularity for age MW, YH Grade 2 bone marrow depression AE CTCAE: E10024 OAE:0003609 a bone marrow depression AE cateogirzed as severely hypocellular or greater than 50 to less than or equal to 75% reduction cellularity from normal for age MW, YH Grade 3 bone marrow depression AE CTCAE: E10025 OAE:0003610 a bone marrow depression AE categorized as aplastic persistent for longer than 2 weeks MW, YH Grade 4 bone marrow depression AE CTCAE: E10026 OAE:0003611 a breast infection AE that has local infection with moderate symptoms; oral intervention indicated (e.g., antibiotic, antifungal, antiviral) MW, YH Grade 2 breast infection AE CTCAE: E11319 OAE:0003612 a breast infection AE that has severe infection; axillary adenitis; IV antibacterial, antifungal, or antiviral intervention indicated MW, YH Grade 3 breast infection AE CTCAE: E11320 OAE:0003613 a cardiac failure AE that is asymptomatic with laboratory (e.g., BNP [B-Natriuretic Peptide ]) or cardiac imaging abnormalities MW, YH Grade 1 cardiac failure AE CTCAE: E10125 OAE:0003614 a cardiac failure AE that has symptoms with mild to moderate activity or exertion MW, YH Grade 2 cardiac failure AE CTCAE: E10126 OAE:0003615 a cardiac failure AE that has severe with symptoms at rest or with minimal activity or exertion; intervention indicated MW, YH Grade 3 cardiac failure AE CTCAE: E10127 OAE:0003616 a cardiac failure AE that has life-threatening consequences; urgent intervention indicated (e.g., continuous IV therapy or mechanical hemodynamic support) MW, YH Grade 4 cardiac failure AE CTCAE: E10128 OAE:0003617 a cataract AE that is symptomatic; moderate decrease in visual acuity (20/40 or better) MW, YH Grade 2 cataract AE CTCAE: E10352 OAE:0003618 a cataract AE that is symptomatic with marked decrease in visual acuity (worse than 20/40 but better than 20/200); operative intervention indicated (e.g., cataract surgery) MW, YH Grade 3 cataract AE CTCAE: E10353 OAE:0003619 a cataract AE that is characterized by blindness (20/200 or worse) in the affected eye MW, YH Grade 4 cataract AE CTCAE: E10354 OAE:0003620 a catheter related infection AE that is localized; local intervention indicated; oral intervention indicated (e.g., antibiotic, antifungal, antiviral) MW, YH Grade 2 catheter related infection AE CTCAE: E11329 OAE:0003621 a catheter related infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 catheter related infection AE CTCAE: E11330 OAE:0003622 a colitis AE that has abdominal pain; mucus or blood in stool MW, YH Grade 2 colitis AE CTCAE: E10523 OAE:0003623 a colitis AE that has severe abdominal pain; change in bowel habits; medical intervention indicated; peritoneal signs MW, YH Grade 3 colitis AE CTCAE: E10524 OAE:0003624 a cytokine release syndrome AE that has a mild reaction; infusion interruption not indicated; intervention not indicated MW, YH Grade 1 cytokine release syndrome AE CTCAE: E11265 OAE:0003625 a cytokine release syndrome AE where therapy or infusion interruption indicated but responds promptly to symptomatic treatment (e.g., antihistamines, NSAIDS, narcotics, IV fluids); prophylactic medications indicated for less than or equal to 24 hrs MW, YH Grade 2 cytokine release syndrome AE CTCAE: E11266 OAE:0003626 a cytokine release syndrome AEthat is prolonged (e.g., not rapidly responsive to symptomatic medication and/or brief interruption of infusion); recurrence of symptoms following initial improvement; hospitalization indicated for clinical sequelae (e.g., renal impairment, pulmonary infiltrates) MW, YH Grade 3 cytokine release syndrome AE CTCAE: E11267 OAE:0003627 a dental caries AE that has one or more dental caries, not involving the root MW, YH Grade 1 dental caries AE CTCAE: E10569 OAE:0003628 a dental caries AE that has dental caries involving the root MW, YH Grade 2 dental caries AE CTCAE: E10570 OAE:0003629 a dental caries AE that has dental caries resulting in pulpitis or periapical abscess or resulting in tooth loss MW, YH Grade 3 dental caries AE CTCAE: E10571 OAE:0003630 a device related infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 device related infection AE CTCAE: E11357 OAE:0003631 a disseminated intravascular coagulation AE that has laboratory findings with no bleeding MW, YH Grade 2 disseminated intravascular coagulation AE CTCAE: E10029 OAE:0003632 a disseminated intravascular coagulation AE that has laboratory findings and bleeding MW, YH Grade 3 disseminated intravascular coagulation AE CTCAE: E10030 OAE:0003633 an ejection fraction decreased AE where the resting ejection fraction (EF) 50 - 40%; 10 - 19% drop from baseline MW, YH Grade 2 ejection fraction decreased AE CTCAE: E12143 OAE:0003634 an ejection fraction decreased AE where the resting ejection fraction (EF) 39 - 20%; greater than 20% drop from baseline MW, YH Grade 3 ejection fraction decreased AE CTCAE: E12144 OAE:0003635 an ejection fraction decreased AE where the resting ejection fraction (EF) less than 20% MW, YH Grade 4 ejection fraction decreased AE CTCAE: E12145 OAE:0003636 an electrocardiogram qt prolonged AE where the QTc 450 - 480 ms MW, YH Grade 1 electrocardiogram qt prolonged AE CTCAE: E12147 OAE:0003637 an electrocardiogram qt prolonged AE where the QTc 481 - 500 ms MW, YH Grade 2 electrocardiogram qt prolonged AE CTCAE: E12148 OAE:0003638 an electrocardiogram qt prolonged AE where the QTc is greater than or equal to 501 ms on at least two separate ECGs MW, YH Grade 3 electrocardiogram qt prolonged AE CTCAE: E12149 OAE:0003639 an electrocardiogram qt prolonged AE where the QTc is greater than or equal to 501 or greater than 60 ms change from baseline and Torsade de pointes or polymorphic ventricular tachycardia or signs/symptoms of serious arrhythmia MW, YH Grade 4 electrocardiogram qt prolonged AE CTCAE: E12150 OAE:0003640 an enterocolitis AE that has abdominal pain; mucus or blood in stool MW, YH Grade 2 enterocolitis AE CTCAE: E10629 OAE:0003641 an enterocolitis AE that has severe or persistent abdominal pain; fever; ileus; peritoneal signs MW, YH Grade 3 enterocolitis AE CTCAE: E10630 OAE:0003642 a fall AE that is minor with no resultant injuries; intervention not indicated MW, YH Grade 1 fall AE CTCAE: E11688 OAE:0003643 a fall AE where hospitalization indicated MW, YH Grade 3 fall AE CTCAE: E11690 OAE:0003644 a febrile neutropenia AE categorized as anC less than 1000/mm3 with a single temperature of greater than 38.3 degrees C (101 degrees F) or a sustained temperature of greater than or equal to 38 degrees C (100.4 degrees F) for more than one hour. MW, YH Grade 3 febrile neutropenia AE CTCAE: E10034 OAE:0003645 a forced expiratory volume decreased AE where FEV1% (percentages of observed FEV1 and FVC related to their respective predicted values) 99 - 70% predicted MW, YH Grade 1 forced expiratory volume decreased AE CTCAE: E12157 OAE:0003646 a forced expiratory volume decreased AE where FEV1 60 - 69% MW, YH Grade 2 forced expiratory volume decreased AE CTCAE: E12158 OAE:0003647 a forced expiratory volume decreased AE where FEV1 50 - 59% MW, YH Grade 3 forced expiratory volume decreased AE CTCAE: E12159 OAE:0003648 a forced expiratory volume decreased AE where FEV1 is less than or equal to 49% MW, YH Grade 4 forced expiratory volume decreased AE CTCAE: E12160 OAE:0003649 a fracture AE that is symptomatic but non-displaced; immobilization indicated MW, YH Grade 2 fracture AE CTCAE: E11705 OAE:0003650 a fracture AE that has severe symptoms; displaced or open wound with bone exposure; disabling; operative intervention indicated MW, YH Grade 3 fracture AE CTCAE: E11706 OAE:0003651 a gamma-glutamyltransferase level increased AE that is greater than the upper limit of normal - 2.5 times upper limit of normal MW, YH Grade 1 gamma-glutamyltransferase level increased AE CTCAE: E12162 OAE:0003652 a gamma-glutamyltransferase level increased AE that is greater than 2.5 - 5.0 times the upper limit of normal MW, YH Grade 2 gamma-glutamyltransferase level increased AE CTCAE: E12163 OAE:0003653 a gamma-glutamyltransferase level increased AE that is greater than 5.0 - 20.0 times the upper limit of normal MW, YH Grade 3 gamma-glutamyltransferase level increased AE CTCAE: E12164 OAE:0003654 a gamma-glutamyltransferase level increased AE that is greater than 20.0 times the upper limit of normal MW, YH Grade 4 gamma-glutamyltransferase level increased AE CTCAE: E12165 OAE:0003655 a gastric ulcer AE that is symptomatic; altered GI function; medical intervention indicated; limiting instrumental activities of daily living MW, YH Grade 2 gastric ulcer AE CTCAE: E10729 OAE:0003656 a gastric ulcer AE that has severely altered GI function; TPN indicated; elective operative or endoscopic intervention indicated; limiting self care activities of daily living; disabling MW, YH Grade 3 gastric ulcer AE CTCAE: E10730 OAE:0003657 a gastritis AE that is symptomatic; altered GI function; medical intervention indicated MW, YH Grade 2 gastritis AE CTCAE: E10735 OAE:0003658 a gastritis AE that has severely altered eating or gastric function; TPN or hospitalization indicated MW, YH Grade 3 gastritis AE CTCAE: E10736 OAE:0003659 a hemolytic uremic syndrome AE that has evidence of RBC destruction (schistocytosis) without clinical consequences MW, YH Grade 1 hemolytic uremic syndrome AE CTCAE: E10044 OAE:0003660 a hemolytic uremic syndrome AE that has laboratory findings with clinical consequences (e.g., renal insufficiency, petechiae) MW, YH Grade 3 hemolytic uremic syndrome AE CTCAE: E10045 OAE:0003661 a hemolytic uremic syndrome AE that has life-threatening consequences, (e.g., CNS hemorrhage or thrombosis/embolism or renal failure) MW, YH Grade 4 hemolytic uremic syndrome AE CTCAE: E10046 OAE:0003662 a hemorrhoidal hemorrhage AE where transfusion, radiologic, endoscopic, or elective operative intervention indicated MW, YH Grade 3 hemorrhoidal hemorrhage AE CTCAE: E10770 OAE:0003663 a hepatic failure AE that has asterixis; mild encephalopathy; limiting self care activities of daily living MW, YH Grade 3 hepatic failure AE CTCAE: E11212 OAE:0003664 a hepatic failure AE that has moderate to severe encephalopathy; coma; life-threatening consequences MW, YH Grade 4 hepatic failure AE CTCAE: E11213 OAE:0003665 a hepatitis viral AE that has symptomatic liver dysfunction; fibrosis by biopsy; compensated cirrhosis; reactivation of chronic hepatitis MW, YH Grade 3 hepatitis viral AE CTCAE: E11412 OAE:0003666 a hepatitis viral AE that has decompensated liver function (e.g., ascites, coagulopathy, encephalopathy, coma) MW, YH Grade 4 hepatitis viral AE CTCAE: E11413 OAE:0003667 an ileus AE that is symptomatic; altered GI function; bowel rest indicated MW, YH Grade 2 ileus AE CTCAE: E10813 OAE:0003668 an ileus AE that has severely altered GI function; TPN indicated MW, YH Grade 3 ileus AE CTCAE: E10814 OAE:0003669 an infusion related reaction AE that has mild transient reaction; infusion interruption not indicated; intervention not indicated MW, YH Grade 1 infusion related reaction AE CTCAE: E11128 OAE:0003670 an infusion related reaction AE where therapy or infusion interruption indicated but responds promptly to symptomatic treatment (e.g., antihistamines, NSAIDS, narcotics, IV fluids); prophylactic medications indicated for less than or equal to 24 hrs MW, YH Grade 2 infusion related reaction AE CTCAE: E11129 OAE:0003671 an infusion related reaction AE that is prolonged (e.g., not rapidly responsive to symptomatic medication and/or brief interruption of infusion); recurrence of symptoms following initial improvement; hospitalization indicated for clinical sequelae MW, YH Grade 3 infusion related reaction AE CTCAE: E11130 OAE:0003672 an infusion site extravasation AE that has erythema with associated symptoms (e.g., edema, pain, induration, phlebitis) MW, YH Grade 2 infusion site extravasation AE CTCAE: E11134 OAE:0003673 an infusion site extravasation AE that has ulceration or necrosis; severe tissue damage; operative intervention indicated MW, YH Grade 3 infusion site extravasation AE CTCAE: E11135 OAE:0003674 an irritability AE that has mild; easily consolable MW, YH Grade 1 irritability AE CTCAE: E11145 OAE:0003675 an irritability AE that has moderate; limiting instrumental activities of daily living; increased attention indicated MW, YH Grade 2 irritability AE CTCAE: E11146 OAE:0003676 an irritability AE that has severe abnormal or excessive response; limiting self care activities of daily living; inconsolable MW, YH Grade 3 irritability AE CTCAE: E11147 OAE:0003677 a left ventricular dysfunction AE that has symptomatic due to drop in ejection fraction responsive to intervention MW, YH Grade 3 left venticular systolic dysfuction AE CTCAE: E10131 OAE:0003678 a left ventricular dysfunction AE chracterized as refractory or poorly controlled heart failure due to drop in ejection fraction; intervention such as ventricular assist device, intravenous vasopressor support, or heart transplant indicated MW, YH Grade 4 left ventricular systolic dysfuction AE CTCAE: E10132 OAE:0003679 a lipase increased AE that is greater than the upper limit of normal - 1.5 times upper limit of normal MW, YH Grade 1 lipase increased AE CTCAE: E12186 OAE:0003680 a lipase increased AE that is greater than 1.5 - 2.0 times upper limit of normal MW, YH Grade 2 lipase increased AE CTCAE: E12187 OAE:0003681 a lipase increased AE that is greater than 2.0 - 5.0 times upper limit of normal MW, YH Grade 3 lipase increased AE CTCAE: E12188 OAE:0003682 a lipase increased AE that is greater than 5.0 times upper limit of normal MW, YH Grade 4 lipase increased AE CTCAE: E12189 OAE:0003683 a localized edema AE that has localized to dependent areas, no disability or functional impairment MW, YH Grade 1 localized edema AE CTCAE: E11149 OAE:0003684 a lung infection AE that has moderate symptoms; oral intervention indicated (e.g., antibiotic, antifungal, antiviral) MW, YH Grade 2 lung infection AE CTCAE: E11445 OAE:0003685 a lung infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic, endoscopic, or operative intervention indicated MW, YH Grade 3 lung infection AE CTCAE: E11446 OAE:0003686 a lymphocyte count decreased AE that is less than the lower limit of normal - 800/mm3; less than the lower limit of normal - 0.8 x 10e9 /L MW, YH Grade 1 lymphocyte count decreased AE CTCAE: E12191 OAE:0003687 a lymphocyte count decreased AE that is less than 800 - 500/mm3; less than 0.8 - 0.5 x 10e9 /L MW, YH Grade 2 lymphocyte count decreased AE CTCAE: E12192 OAE:0003688 a lymphocyte count decreased AE that is less than 500 - 200/mm3; less than 0.5 - 0.2 x 10e9 /L MW, YH Grade 3 lymphocyte count decreased AE CTCAE: E12193 OAE:0003689 a lymphocyte count decreased AE that is less than 200/mm3; less than 0.2 x 10e9 /L MW, YH Grade 4 lymphocyte count decreased AE CTCAE: E12194 OAE:0003690 a myocarditis AE that has asymptomatic with laboratory (e.g., BNP [B-Natriuretic Peptide ]) or cardiac imaging abnormalities MW, YH Grade 1 myocarditis AE CTCAE: E10158 OAE:0003691 a myocarditis AE that has symptoms with mild to moderate activity or exertion MW, YH Grade 2 myocarditis AE CTCAE: E10159 OAE:0003692 a myocarditis AE that has severe with symptoms at rest or with minimal activity or exertion; intervention indicated MW, YH Grade 3 myocarditis AE CTCAE: E10160 OAE:0003693 a myocarditis AE that has life-threatening consequences; urgent intervention indicated (e.g., continuous IV therapy or mechanical hemodynamic support) MW, YH Grade 4 myocarditis AE CTCAE: E10161 OAE:0003694 a neutrophil count decreased AE that is less than the lower limit of normal - 1500/mm3; less than the lower limit of normal - 1.5 x 10e9 /L MW, YH Grade 1 neutrophil count decreased AE CTCAE: E12199 OAE:0003695 a neutrophil count decreased AE that is less than 1500 - 1000/mm3; less than 1.5 - 1.0 x 10e9 /L MW, YH Grade 2 neutrophil count decreased AE CTCAE: E12200 OAE:0003696 a neutrophil count decreased AE that is less than 1000 - 500/mm3; less than 1.0 - 0.5 x 10e9 /L MW, YH Grade 3 neutrophil count decreased AE CTCAE: E12201 OAE:0003697 a neutrophil count decreased AE that is less than 500/mm3; less than 0.5 x 10e9 /L MW, YH Grade 4 neutrophil count decreased AE CTCAE: E12202 OAE:0003698 an esophageal stenosis AE that is symptomatic; altered GI function MW, YH Grade 2 esophageal stenosis AE CTCAE: E10672 OAE:0003699 an esophageal stenosis AE that has severely altered GI function; tube feeding; hospitalization indicated; elective operative intervention indicated MW, YH Grade 3 esophageal stenosis AE CTCAE: E10673 OAE:0003700 an esophagitis AE that is symptomatic; altered eating/swallowing; oral supplements indicated MW, YH Grade 2 esophagitis AE CTCAE: E10689 OAE:0003701 an esophagitis AE that has severely altered eating/swallowing; tube feeding, TPN or hospitalization indicated MW, YH Grade 3 esophagitis AE CTCAE: E10690 OAE:0003702 an oral cavity fistula AE that is symptomatic; altered GI function MW, YH Grade 2 oral cavity fistula AE CTCAE: E10890 OAE:0003703 an oral cavity fistula AE that has severely altered GI function; TPN or hospitalization indicated; elective operative intervention indicated MW, YH Grade 3 oral cavity fistula AE CTCAE: E10891 OAE:0003704 a papilloedema AE that has a symptomatic decline in vision; visual field defect present sparing the central 20 degrees MW, YH Grade 2 papilledema AE CTCAE: E10413 OAE:0003705 a papilloedema AE that has a marked visual field defect (worse than 20/40 but better than 20/200) MW, YH Grade 3 papilledema AE CTCAE: E10414 OAE:0003706 a papilloedema AE that has blindness (20/200 or worse) in the affected eye MW, YH Grade 4 papilledema AE CTCAE: E10415 OAE:0003707 a pericardial effusion AE that has asymptomatic effusion size small to moderate MW, YH Grade 2 pericardial effusion AE CTCAE: E10173 OAE:0003708 a pericardial effusion AE that has effusion with physiologic consequences MW, YH Grade 3 pericardial effusion AE CTCAE: E10174 OAE:0003709 a portal hypertension AE that has decreased portal vein flow MW, YH Grade 2 portal hypertension AE CTCAE: E11239 OAE:0003710 a portal hypertension AE that has reversal/retrograde portal vein flow; associated with varices and/or ascites MW, YH Grade 3 portal hypertension AE CTCAE: E11240 OAE:0003711 a dermatitis radiation AE that has faint erythema or dry desquamation MW, YH Grade 1 dermatitis radiation AE CTCAE: E11676 OAE:0003712 a dermatitis radiation AE that has moderate to brisk erythema; patchy moist desquamation, mostly confined to skin folds and creases; moderate edema MW, YH Grade 2 dermatitis radiation AE CTCAE: E11677 OAE:0003713 a dermatitis radiation AE that has moist desquamation in areas other than skin folds and creases; bleeding induced by minor trauma or abrasion MW, YH Grade 3 dermatitis radiation AE CTCAE: E11678 OAE:0003714 a dermatitis radiation AE that has life-threatening consequences; skin necrosis or ulceration of full thickness dermis; spontaneous bleeding from involved site; skin graft indicated MW, YH Grade 4 dermatitis radiation AE CTCAE: E11679 OAE:0003715 a rectal hemorrhage AE where transfusion, radiologic, endoscopic, or elective operative intervention indicated MW, YH Grade 3 rectal hemorrhage AE CTCAE: E10958 OAE:0003716 a skin infection AE that is localized, local intervention indicated MW, YH Grade 1 skin infection AE CTCAE: E11569 OAE:0003717 a skin infection AE where oral intervention indicated (e.g., antibiotic, antifungal, antiviral) MW, YH Grade 2 skin infection AE CTCAE: E11570 OAE:0003718 a skin infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 skin infection AE CTCAE: E11571 OAE:0003719 a small intestinal obstruction AE that is symptomatic; altered GI function; limiting instrumental activities of daily living MW, YH Grade 2 small intestinal obstruction AE CTCAE: E11023 OAE:0003720 a small intestinal stenosis AE that is symptomatic; altered GI function MW, YH Grade 2 small intestinal stenosis AE CTCAE: E11034 OAE:0003721 a small intestinal stenosis AE that is symptomatic and severely altered GI function; tube feeding, TPN or hospitalization indicated; non-emergent operative intervention indicated MW, YH Grade 3 small intestinal stenosis AE CTCAE: E11035 OAE:0003722 a soft tissue infection AE that is localized; local intervention indicated (e.g., topical antibiotic, antifungal, or antiviral) MW, YH Grade 2 soft tissue infection AE CTCAE: E11580 OAE:0003723 a soft tissue infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 soft tissue infection AE CTCAE: E11581 OAE:0003724 a gastric hemorrhage AE where transfusion, radiologic, endoscopic, or elective operative intervention indicated MW, YH Grade 3 gastric hemorrhage AE CTCAE: E10709 OAE:0003725 a tracheitis AE that has moderate symptoms; oral intervention indicated (e.g., antibiotic, antifungal, antiviral) MW, YH Grade 2 tracheitis AE CTCAE: E11600 OAE:0003726 a tracheitis AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic, endoscopic, or operative intervention indicated MW, YH Grade 3 tracheitis AE CTCAE: E11601 OAE:0003727 an upper gastrointestinal hemorrhage AE where transfusion, radiologic, endoscopic, or elective operative intervention indicated MW, YH Grade 3 upper gastrointestinal hemorrhage AE CTCAE: E11065 OAE:0003728 a urine output decreased AE that has oliguria (less than 80 ml in 8 hr) MW, YH Grade 3 urine output decreased AE CTCAE: E12218 OAE:0003729 a urine output decreased AE that has anuria (less than 240 ml in 24 hr) MW, YH Grade 4 urine output decreased AE CTCAE: E12219 OAE:0003730 a vaginal infection AE that is localized; local intervention indicated (e.g., topical antibiotic, antifungal, or antiviral) MW, YH Grade 2 vaginal infection AE CTCAE: E11625 OAE:0003731 a vaginal infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 vaginal infection AE CTCAE: E11626 OAE:0003732 a venous injury AE that is symptomatic (e.g., claudication); repair or revision not indicated MW, YH Grade 2 venous injury AE CTCAE: E12053 OAE:0003733 a venous injury AE that has severe symptoms; limiting self care activities of daily living; repair or revision indicated; disabling MW, YH Grade 3 venous injury AE CTCAE: E12054 OAE:0003734 a venous injury AE that has life-threatening consequences; evidence of end organ damage; urgent operative intervention indicated MW, YH Grade 4 venous injury AE CTCAE: E12055 OAE:0003735 a weight increased AE that is 5 - less than 10% from baseline MW, YH Grade 1 weight increased AE CTCAE: E12225 OAE:0003736 a weight increased AE that is 10 - less than 20% from baseline MW, YH Grade 2 weight increased AE CTCAE: E12226 OAE:0003737 a weight increased AE that is greater than or equal to 20% from baseline MW, YH Grade 3 weight increased AE CTCAE: E12227 OAE:0003738 a wolff-parkinson-white syndrome AE that is symptomatic and incompletely controlled medically or controlled with procedure MW, YH Grade 3 Wolff-Parkinson-White syndrom AE CTCAE: E10247 OAE:0003739 a wound complication AE that has incisional separation of less than or equal to 25% of wound, no deeper than superficial fascia MW, YH Grade 1 wound complication AE CTCAE: E12058 OAE:0003740 a wound complication AE that has incisional separation greater than 25% of wound; local care indicated MW, YH Grade 2 wound complication AE CTCAE: E12059 OAE:0003741 a wound complication AE that has hernia without evidence of strangulation; fascial disruption/dehiscence; primary wound closure or revision by operative intervention indicated MW, YH Grade 3 wound complication AE CTCAE: E12060 OAE:0003742 a wound complication AE that has hernia with evidence of strangulation; major reconstruction flap, grafting, resection, or amputation indicated MW, YH Grade 4 wound complication AE CTCAE: E12061 OAE:0003743 a wound dehiscence AE that has incisional separation of less than or equal to 25% of wound, no deeper than superficial fascia MW, YH Grade 1 wound dehiscence AE CTCAE: E12064 OAE:0003744 a wound dehiscence AE that has incisional separation greater than 25% of wound with local care; asymptomatic hernia or symptomatic hernia without evidence of strangulation MW, YH Grade 2 wound dehiscence AE CTCAE: E12065 OAE:0003745 a wound dehiscence AE that has fascial disruption or dehiscence without evisceration; primary wound closure or revision by operative intervention indicated MW, YH Grade 3 wound dehiscence AE CTCAE: E12066 OAE:0003746 a wound dehiscence AE that has life-threatening consequences; symptomatic hernia with evidence of strangulation; fascial disruption with evisceration; major reconstruction flap, grafting, resection, or amputation indicated MW, YH Grade 4 wound dehiscence AE CTCAE: E12067 OAE:0003747 a multi-organ failure AE chracterized by shock with azotemia and acid-base disturbances; significant coagulation abnormalities MW, YH Grade 3 multi-organ failure AE CTCAE: E11156 OAE:0003748 a multi-organ failure AE that has life-threatening consequences (e.g., vasopressor dependent and oliguric or anuric or ischemic colitis or lactic acidosis) MW, YH Grade 4 multi-organ failure AE CTCAE: E11157 OAE:0003749 a restrictive cardiomyopathy AE that has symptomatic heart failure or other cardiac symptoms, responsive to intervention MW, YH Grade 3 restrictive cardiomyopathy AE CTCAE: E10193 OAE:0003750 a restrictive cardiomyopathy AE that has refractory heart failure or other poorly controlled cardiac symptoms MW, YH Grade 4 restrictive cardiomyopathy AE CTCAE: E10194 OAE:0003751 a complete atrioventricular block AE that has symptomatic and incompletely controlled medically, or controlled with device (e.g., pacemaker) MW, YH Grade 3 atrioventricular block complete AE CTCAE: E10095 OAE:0003752 a Mobitz type I block AE that has symptomatic and incompletely controlled medically, or controlled with device (e.g., pacemaker) MW, YH Grade 3 Mobitz type I block AE CTCAE: E10149 OAE:0003753 a Mobitz type II block AE that has symptomatic and incompletely controlled medically, or controlled with device (e.g., pacemaker) MW, YH Grade 3 Mobitz type II atrioventricular block AE CTCAE: E10143 OAE:0003754 a hemoglobin level increased AE where the increase is greater than 0 - 2 gm/dL above upper limit of normal or above baseline if baseline is above upper limit of normal MW, YH Grade 1 hemoglobin level increased AE CTCAE: E12172 OAE:0003755 a hemoglobin level increased AE where the increase is greater than 2 - 4 gm/dL above the upper limit of normal or above baseline if baseline is above upper limit of normal MW, YH Grade 2 hemoglobin level increased AE CTCAE: E12173 OAE:0003756 a hemoglobin level increased AE where the increase is greater than 4 gm/dL above the upper limit of normal or above baseline if baseline is above upper limit of normal MW, YH Grade 3 hemoglobin level increased AE CTCAE: E12174 OAE:0003757 a right ventricular dysfunction AE that has asymptomatic with laboratory (e.g., BNP [B-Natriuretic Peptide ]) or cardiac imaging abnormalities MW, YH Grade 1 right ventricular dysfuction AE CTCAE: E10197 OAE:0003758 a right ventricular dysfunction AE that has symptoms with mild to moderate activity or exertion MW, YH Grade 2 right ventricular dysfuction AE CTCAE: E10198 OAE:0003759 a right ventricular dysfunction AE that has severe symptoms, associated with hypoxemia, right heart failure; oxygen indicated MW, YH Grade 3 right ventricular dysfuction AE CTCAE: E10199 OAE:0003760 a right ventricular dysfunction AE that has life-threatening consequences; urgent intervention indicated (e.g., ventricular assist device); heart transplant indicated MW, YH Grade 4 right ventricular dysfunction AE CTCAE: E10200 OAE:0003761 a Intraoperative hemorrhage AE where postoperative radiologic, endoscopic, or operative intervention indicated MW, YH Grade 3 intraoperative hemorrhage AE CTCAE: E11811 OAE:0003762 an uveitis AE that has anterior uveitis; medical intervention indicated MW, YH Grade 2 uveitis AE CTCAE: E10444 OAE:0003763 an uveitis AE that has posterior or pan-uveitis MW, YH Grade 3 uveitis AE CTCAE: E10445 OAE:0003764 an uveitis AE that has blindness (20/200 or worse) in the affected eye MW, YH Grade 4 uveitis AE CTCAE: E10446 OAE:0003765 a retinopathy AE that is symptomatic with moderate decrease in visual acuity (20/40 or better); limiting instrumental activities of daily living MW, YH Grade 2 retinopathy AE CTCAE: E10434 OAE:0003766 a retinopathy AE that is symptomatic with marked decrease in visual acuity (worse than 20/40); disabling; limiting self care activities of daily living MW, YH Grade 3 retinopathy AE CTCAE: E10435 OAE:0003767 a retinopathy AE that has blindness (20/200 or worse) in the affected eye MW, YH Grade 4 retinopathy AE CTCAE: E10436 OAE:0003768 a hearing loss AE for adults enrolled on a Monitoring Program (on a 1, 2, 3, 4, 6 and 8 kHz audiogram): Threshold shift of 15 - 25 dB averaged at 2 contiguous test frequencies in at least one ear. Adults not enrolled in Monitoring Program: subjective change in hearing in the absence of documented hearing loss. Pediatric (on a 1, 2, 3, 4, 6 and 8 kHz audiogram): Threshold shift greater than20 dB at 8 kHz in at least one ear. MW, YH Grade 1 hearing loss AE CTCAE: E10277 OAE:0003769 a hearing loss AE for adults enrolled in Monitoring Program (on a 1, 2, 3, 4, 6 and 8 kHz audiogram): Threshold shift of greater than25 dB averaged at 2 contiguous test frequencies in at least one ear. Adults not enrolled in Monitoring Program: hearing loss but hearing aid or intervention not indicated; limiting instrumental activities of daily living. Pediatric (on a 1, 2, 3, 4, 6 and 8 kHz audiogram): Threshold shift greater than20 dB at 4 kHz and above in at least one ear. MW, YH Grade 2 hearing loss AE CTCAE: E10278 OAE:0003770 a hearing loss AE for adults enrolled in Monitoring Program (on a 1, 2, 3, 4, 6 and 8 kHz audiogram): Threshold shift of greater than25 dB averaged at 3 contiguous test frequencies in at least one ear; therapeutic intervention indicated. Adults not enrolled in Monitoring Program: hearing loss with hearing aid or intervention indicated; limiting self care activities of daily living. Pediatric (on a 1, 2, 3, 4, 6 and 8 kHz audiogram): hearing loss sufficient to indicate therapeutic intervention, including hearing aids; threshold shift greater than20 dB at 3 kHz and above in at least one ear; additional speech-language related services indicated. MW, YH Grade 3 hearing loss AE CTCAE: E10279 OAE:0003771 a hearing loss AE for adults: Decrease in hearing to profound bilateral loss (absolute threshold greater than80 dB HL at 2 kHz and above); non-servicable hearing. Pediatric: Audiologic indication for cochlear implant and additional speech-language related services indicated. MW, YH Grade 4 hearing loss AE CTCAE: E10280 OAE:0003772 a international normalized ratio increased AE that is greater than 1 - 1.5 times the upper limit of normal; greater than 1 - 1.5 times above baseline if on anticoagulation MW, YH Grade 1 international normalized ratio increased AE CTCAE: E12176 OAE:0003773 a international normalized ratio increased AE that is greater than 1.5 - 2.5 times the upper limit of normal; greater than 1.5 - 2.5 times above baseline if on anticoagulation MW, YH Grade 2 international normalized ratio increased AE CTCAE: E12177 OAE:0003774 a international normalized ratio increased AE that is greater than 2.5 times the upper limit of normal; greater than 2.5 times above baseline if on anticoagulation MW, YH Grade 3 international normalized ratio increased AE CTCAE: E12178 OAE:0003775 a fecal incontinence AE that has occasional use of pads required MW, YH Grade 1 fecal incontinence AE CTCAE: E10694 OAE:0003776 a fecal incontinence AE that has daily use of pads required MW, YH Grade 2 fecal incontinence AE CTCAE: E10695 OAE:0003777 a fecal incontinence AE that has severe symptoms; elective operative intervention indicated MW, YH Grade 3 fecal incontinence AE CTCAE: E10696 OAE:0003778 a thrombotic thrombocytopenic purpura AE that has evidence of RBC destruction (schistocytosis) without clinical consequences MW, YH Grade 1 thrombotic thrombocytopenic purpura AE CTCAE: E10062 OAE:0003779 a thrombotic thrombocytopenic purpura AE charaterized by laboratory findings with clinical consequences (e.g., renal insufficiency, petechiae) MW, YH Grade 3 thrombotic thrombocytopenic purpura AE CTCAE: E10063 OAE:0003780 a thrombotic thrombocytopenic purpura AE that has life-threatening consequences, (e.g., CNS hemorrhage or thrombosis/embolism or renal failure) MW, YH Grade 4 thrombotic thrombocytopenic purpura AE CTCAE: E10064 OAE:0003781 a glaucoma AE that has elevated intraocular pressure (EIOP) with single topical agent for intervention; no visual field deficit MW, YH Grade 1 glaucoma AE CTCAE: E10393 OAE:0003782 a glaucoma AE that has elevated intraocular pressure causing early visual field deficits; multiple topical or oral agents indicated; limiting instrumental activities of daily living MW, YH Grade 2 glaucoma AE CTCAE: E10394 OAE:0003783 a glaucoma AE that has elevated intraocular pressure causing marked visual field deficits (e.g., involving both superior and inferior visual fields); operative intervention indicated; limiting self care activities of daily living MW, YH Grade 3 glaucoma AE CTCAE: E10395 OAE:0003784 a glaucoma AE that has blindness (20/200 or worse) in the affected eye MW, YH Grade 4 glaucoma AE CTCAE: E10396 OAE:0003785 an anaphylaxis AE that has symptomatic bronchospasm, with or without urticaria; parenteral intervention indicated; allergy-related edema/angioedema; hypotension MW, YH Grade 3 anaphylaxis AE CTCAE: E11255 OAE:0003786 a retinal detachment AE that has exudative and visual acuity 20/40 or better MW, YH Grade 2 retinal detachment AE CTCAE: E10422 OAE:0003787 a retinal detachment AE that has rhegmatogenous or exudative detachment; operative intervention indicated; decline in vision (worse than 20/40 but better than 20/200) MW, YH Grade 3 retinal detachment AE CTCAE: E10423 OAE:0003788 a retinal detachment AE that has blindness (20/200 or worse) in the affected eye MW, YH Grade 4 retinal detachment AE CTCAE: E10424 OAE:0003789 a hemolysis AE that has laboratory evidence of hemolysis only (e.g., direct antiglobulin test; DAT; Coombs'; schistocytes; decreased haptoglobin) MW, YH Grade 1 hemolysis AE CTCAE: E10038 OAE:0003790 a hemolysis AE that has evidence of hemolysis and greater than or equal to 2 gm decrease in hemoglobin. MW, YH Grade 2 hemolysis AE CTCAE: E10039 OAE:0003791 a hemolysis AE where transfusion or medical intervention is indicated (e.g., steroids) MW, YH Grade 3 hemolysis AE CTCAE: E10040 OAE:0003792 an anal fistula AE that is symptomatic; altered GI function MW, YH Grade 2 anal fistula AE CTCAE: E10466 OAE:0003793 an anal fistula AE that has severely altered GI function; tube feeding, TPN or hospitalization indicated; elective operative intervention indicated MW, YH Grade 3 anal fistula AE CTCAE: E10467 OAE:0003794 an atrial tachycardia AE where IV medication is indicated MW, YH Grade 3 atrial tachycardia AE CTCAE: E10169 OAE:0003795 an atrial tachycardia AE that has life-threatening consequences; incompletely controlled medically; cardioversion indicated MW, YH Grade 4 atrial tachycardia AE CTCAE: E10170 OAE:0003796 a cholecystitis AE that has severe symptoms; radiologic, endoscopic or elective operative intervention indicated MW, YH Grade 3 cholecystitis AE CTCAE: E11186 OAE:0003797 an autoimmune disorder AE that is asymptomatic; serologic or other evidence of autoimmune reaction, with normal organ function; intervention not indicated MW, YH Grade 1 autoimmune disorder AE CTCAE: E11259 OAE:0003798 an autoimmune disorder AE that has evidence of autoimmune reaction involving a non-essential organ or function (e.g., hypothyroidism) MW, YH Grade 2 autoimmune disorder AE CTCAE: E11260 OAE:0003799 an autoimmune disorder AE that has autoimmune reactions involving major organ (e.g., colitis, anemia, myocarditis, kidney) MW, YH Grade 3 autoimmune disorder AE CTCAE: E11261 OAE:0003800 a spleen disorder AE that has incidental findings (e.g., Howell-Jolly bodies); mild degree of thrombocytosis and leukocytosis MW, YH Grade 1 spleen disorder AE CTCAE: E10057 OAE:0003801 a spleen disorder AE when prophylactic antibiotics are indicated MW, YH Grade 2 spleen disorder AE CTCAE: E10058 OAE:0003802 a burn AE that requires medical intervention; minimal debridement indicated MW, YH Grade 2 burn AE CTCAE: E11671 OAE:0003803 a burn AE that requires moderate to major debridement or reconstruction indicated MW, YH Grade 3 burn AE CTCAE: E11672 OAE:0003804 a papulopustular rash AE that has papules and/or pustules covering less than 10% body surface area which may or may not be associated with symptoms of pruritus or tenderness MW, YH Grade 1 papulopustular rash AE CTCAE: E11492 OAE:0003805 a papulopustular rash AE that has papules and/or pustules covering 10-30% body surface area, which may or may not be associated with symptoms of pruritus or tenderness; associated with psychosocial impact; limiting instrumental activities of daily living MW, YH Grade 2 papulopustular rash AE CTCAE: E11493 OAE:0003806 a papulopustular rash AE that has papules and/or pustules covering greater than 30% body surface area, which may or may not be associated with symptoms of pruritus or tenderness; limiting self-care activities of daily living; associated with local superinfection with oral antibiotics indicated MW, YH Grade 3 papulopustular rash AE CTCAE: E11494 OAE:0003807 a papulopustular rash AE that has papules and/or pustules covering any % body surface area, which may or may not be associated with symptoms of pruritus or tenderness and are associated with extensive superinfection with IV antibiotics indicated; life-threatening consequences MW, YH Grade 4 papulopustular rash AE CTCAE: E11495 OAE:0003808 an acute coronary syndrome AE that has symptomatic, progressive angina; cardiac enzymes normal; hemodynamically stable MW, YH Grade 2 acute coronary syndrome AE CTCAE: E10067 OAE:0003809 an acute coronary syndrome AE that has symptomatic, unstable angina and/or acute myocardial infarction, cardiac enzymes abnormal, hemodynamically stable MW, YH Grade 3 acute coronary syndrome AE CTCAE: E10068 OAE:0003810 an acute coronary syndrome AE that has symptomatic, unstable angina and/or acute myocardial infarction, cardiac enzymes abnormal, hemodynamically unstable MW, YH Grade 4 acute coronary syndrome AE CTCAE: E10069 OAE:0003811 an aortic valve disease AE that has asymptomatic valvular thickening with or without mild valvular regurgitation or stenosis by imaging MW, YH Grade 1 aortic valve disease AE CTCAE: E10072 OAE:0003812 an aortic valve disease AE that has symptomatic; moderate regurgitation or stenosis by imaging MW, YH Grade 2 aortic valve disease AE CTCAE: E10073 OAE:0003813 an aortic valve disease AE that has symptomatic; severe regurgitation or stenosis by imaging; symptoms controlled with medical intervention MW, YH Grade 3 aortic valve disease AE CTCAE: E10074 OAE:0003814 an aortic valve disease AE that has life-threatening consequences; urgent intervention indicated (e.g., valve replacement, valvuloplasty) MW, YH Grade 4 aortic valve disease AE CTCAE: E10075 OAE:0003815 an asystole AE that has periods of asystole; non-urgent medical management indicated MW, YH Grade 1 asystole AE CTCAE: E10078 OAE:0003816 a constrictive pericarditis AE that has symptomatic heart failure or other cardiac symptoms, responsive to intervention MW, YH Grade 3 constrictive pericarditis AE CTCAE: E10121 OAE:0003817 a constrictive pericarditis AE that has refractory heart failure or other poorly controlled cardiac symptoms MW, YH Grade 4 constrictive pericarditis AE CTCAE: E10122 OAE:0003818 a mitral valve disease AE that has asymptomatic valvular thickening with or without mild valvular regurgitation or stenosis by imaging MW, YH Grade 1 mitral valve disease AE CTCAE: E10135 OAE:0003819 a mitral valve disease AE that has asymptomatic; moderate regurgitation or stenosis by imaging MW, YH Grade 2 mitral valve disease AE CTCAE: E10136 OAE:0003820 a mitral valve disease AE that has symptomatic; severe regurgitation or stenosis by imaging; symptoms controlled with medical intervention MW, YH Grade 3 mitral valve disease AE CTCAE: E10137 OAE:0003821 a mitral valve disease AE that has life-threatening consequences; urgent intervention indicated (e.g., valve replacement, valvuloplasty) MW, YH Grade 4 mitral valve disease AE CTCAE: E10138 OAE:0003822 a pulmonary valve disease AE that has asymptomatic valvular thickening with or without mild valvular regurgitation or stenosis by imaging MW, YH Grade 1 pulmonary valve disease AE CTCAE: E10187 OAE:0003823 a pulmonary valve disease AE that has asymptomatic; moderate regurgitation or stenosis by imaging MW, YH Grade 2 pulmonary valve disease AE CTCAE: E10188 OAE:0003824 a pulmonary valve disease AE that has symptomatic; severe regurgitation or stenosis by imaging; symptoms controlled with medical intervention MW, YH Grade 3 pulmonary valve disease AE CTCAE: E10189 OAE:0003825 a pulmonary valve disease AE that has life-threatening consequences; urgent intervention indicated (e.g., valve replacement, valvuloplasty) MW, YH Grade 4 pulmonary valve disease AE CTCAE: E10190 OAE:0003826 a tricuspid valve disease AE that has asymptomatic valvular thickening with or without mild valvular regurgitation or stenosis MW, YH Grade 1 tricuspid valve disease AE CTCAE: E10225 OAE:0003827 a tricuspid valve disease AE that is asymptomatic; moderate regurgitation or stenosis by imaging MW, YH Grade 2 tricuspid valve disease AE CTCAE: E10226 OAE:0003828 a tricuspid valve disease AE that is symptomatic; severe regurgitation or stenosis; symptoms controlled with medical intervention MW, YH Grade 3 tricuspid valve disease AE CTCAE: E10227 OAE:0003829 a tricuspid valve disease AE that has life-threatening consequences; urgent intervention indicated (e.g., valve replacement, valvuloplasty) MW, YH Grade 4 tricuspid valve disease AE CTCAE: E10228 OAE:0003830 an external ear inflammation AE that has external otitis with erythema or dry desquamation MW, YH Grade 1 external ear inflammation AE CTCAE: E10267 OAE:0003831 an external ear inflammation AE that has external otitis with moist desquamation, edema, enhanced cerumen or discharge; tympanic membrane perforation; tympanostomy MW, YH Grade 2 external ear inflammation AE CTCAE: E10268 OAE:0003832 an external ear inflammation AE that has external otitis with mastoiditis; stenosis or osteomyelitis; necrosis of soft tissue or bone MW, YH Grade 3 external ear inflammation AE CTCAE: E10269 OAE:0003833 an external ear inflammation AE where urgent operative intervention indicated MW, YH Grade 4 external ear inflammation AE CTCAE: E10270 OAE:0003834 a middle ear inflammation AE that has serous otitis MW, YH Grade 1 middle ear inflammation AE CTCAE: E10282 OAE:0003835 a middle ear inflammation AE that has serous otitis, medical intervention indicated MW, YH Grade 2 middle ear inflammation AE CTCAE: E10283 OAE:0003836 a middle ear inflammation AE that has mastoiditis; necrosis of canal soft tissue or bone MW, YH Grade 3 middle ear inflammation AE CTCAE: E10284 OAE:0003837 a delayed puberty AE that has no breast development by age 13 yrs for females; testes volume of <3 cc or no Tanner Stage 2 development by age 14.5 yrs for males MW, YH Grade 2 delayed puberty AE CTCAE: E10309 OAE:0003838 a delayed puberty AE that has no breast development by age 14 yrs for females; no increase in testes volume or no Tanner Stage 2 by age 16 yrs for males; hormone replacement indicated MW, YH Grade 3 delayed puberty AE CTCAE: E10310 OAE:0003839 a growth accelerated AE that has greater than or equal to +2 SD (standard deviation) above mid parental height or target height MW, YH Grade 2 growth accelerated AE CTCAE: E10318 OAE:0003840 a precocious puberty AE that has physical signs of puberty with no biochemical markers for females younger than 8 years and males younger than 9 years MW, YH Grade 1 precocious puberty AE CTCAE: E10341 OAE:0003841 a precocious puberty AE that has physical signs and biochemical markers of puberty for females younger than 8 years and males younger than 9 years MW, YH Grade 2 precocious puberty AE CTCAE: E10342 OAE:0003842 a corneal ulcer AE that has limiting self care activities of daily living declining vision (worse than 20/40 but better than 20/200) MW, YH Grade 3 corneal ulcer AE CTCAE: E10361 OAE:0003843 a corneal ulcer AE that has perforation or blindness (20/200 or worse) in the affected eye MW, YH Grade 4 corneal ulcer AE CTCAE: E10362 OAE:0003844 a dry eye AE that is asymptomatic; clinical or diagnostic observations only; mild symptoms relieved by lubricants MW, YH Grade 1 dry eye AE CTCAE: E10364 OAE:0003845 a dry eye AE that has a decrease in visual acuity (<20/40); limiting self care activities of daily living MW, YH Grade 3 dry eye AE CTCAE: E10366 OAE:0003846 a keratitis AE that has a decline in vision (worse than 20/40 but better than 20/200); limiting self care activities of daily living MW, YH Grade 3 keratitis AE CTCAE: E10399 OAE:0003847 a keratitis AE that has perforation or blindness (20/200 or worse) in the affected eye MW, YH Grade 4 keratitis AE CTCAE: E10400 OAE:0003848 a night blindness AE that has blindness (20/200 or worse) in the affected eye MW, YH Grade 4 night blindness AE CTCAE: E10405 OAE:0003849 an optic nerve disorder AE that has limiting vision of the affected eye (20/40 or better) MW, YH Grade 2 optic nerve disorder AE CTCAE: E10408 OAE:0003850 an optic nerve disorder AE that has limiting vision in the affected eye (worse than 20/40 but better than 20/200) MW, YH Grade 3 optic nerve disorder AE CTCAE: E10409 OAE:0003851 an optic nerve disorder AE that has blindness (20/200 or worse) in the affected eye MW, YH Grade 4 optic nerve disorder AE CTCAE: E10410 OAE:0003852 a retinal tear AE where laser therapy or pneumopexy indicated MW, YH Grade 2 retinal tear AE CTCAE: E10426 OAE:0003853 a retinal tear AE where vitroretinal surgical repair indicated MW, YH Grade 3 retinal tear AE CTCAE: E10427 OAE:0003854 a retinal tear AE that has blindness (20/200 or worse) in the affected eye MW, YH Grade 4 retinal tear AE CTCAE: E10428 OAE:0003855 a retinal vascular disorder AE where topical medication indicated MW, YH Grade 2 retinal vascular disorder AE CTCAE: E10430 OAE:0003856 a retinal vascular disorder AE where intravitreal medication; operative intervention indicated MW, YH Grade 3 retinal vascular disorder AE CTCAE: E10431 OAE:0003857 a scleral disorder AE that is symptomatic, limiting instrumental activities of daily living; moderate decrease in visual acuity (20/40 or better) MW, YH Grade 2 scleral disorder AE CTCAE: E10439 OAE:0003858 a scleral disorder AE that is symptomatic, limiting self care activities of daily living; marked decrease in visual acuity (worse than 20/40) MW, YH Grade 3 scleral disorder AE CTCAE: E10440 OAE:0003859 a scleral disorder AE that has blindness (20/200 or worse) in the affected eye MW, YH Grade 4 scleral disorder AE CTCAE: E10441 OAE:0003860 a vitreous hemorrhage AE that has limiting self care activities of daily living; vitrectomy indicated MW, YH Grade 3 vitreous hemorrhage AE CTCAE: E10450 OAE:0003861 a vitreous hemorrhage AE that has blindness (20/200 or worse) in the affected eye MW, YH Grade 4 vitreous hemorrhage AE CTCAE: E10451 OAE:0003862 an anal necrosis AE where TPN or hospitalization indicated; radiologic, endoscopic, or operative intervention indicated MW, YH Grade 3 anal necrosis AE CTCAE: E10483 OAE:0003863 an anal stenosis AE that is symptomatic; altered GI function MW, YH Grade 2 anal stenosis AE CTCAE: E10492 OAE:0003864 an anal stenosis AE that is symptomatic and severely altered GI function; non-emergent operative intervention indicated; TPN or hospitalization indicated MW, YH Grade 3 anal stenosis AE CTCAE: E10493 OAE:0003865 a bloating AE that has no change in bowel function or oral intake MW, YH Grade 1 bloating AE CTCAE: E10509 OAE:0003866 a bloating AE that is symptomatic, decreased oral intake; change in bowel function MW, YH Grade 2 bloating AE CTCAE: E10510 OAE:0003867 a cecal hemorrhage AE that has moderate symptoms; medical intervention or minor cauterization indicated MW, YH Grade 2 cecal hemorrhage AE CTCAE: E10513 OAE:0003868 a cecal hemorrhage AE where transfusion, radiologic, endoscopic, or elective operative intervention indicated MW, YH Grade 3 cecal hemorrhage AE CTCAE: E10514 OAE:0003869 a colonic fistula AE that is symptomatic; altered GI function MW, YH Grade 2 colonic fistula AE CTCAE: E10529 OAE:0003870 a colonic fistula AE that has severely altered GI function; bowel rest, TPN or hospitalization indicated; elective operative intervention indicated MW, YH Grade 3 colonic fistula AE CTCAE: E10530 OAE:0003871 a colonic hemorrhage AE where transfusion, radiologic, endoscopic, or elective operative intervention indicated MW, YH Grade 3 colonic hemorrhage AE CTCAE: E10536 OAE:0003872 a colonic obstruction AE that is symptomatic; altered GI function MW, YH Grade 2 colonic obstruction AE CTCAE: E10541 OAE:0003873 a colonic ulcer AE that is symptomatic; altered GI function MW, YH Grade 2 colonic ulcer AE CTCAE: E10558 OAE:0003874 a colonic ulcer AE that has severely altered GI function; TPN indicated; elective operative or endoscopic intervention indicated; disabling MW, YH Grade 3 colonic ulcer AE CTCAE: E10559 OAE:0003875 a duodenal fistula AE that is symptomatic; altered GI function MW, YH Grade 2 duodenal fistula AE CTCAE: E10584 OAE:0003876 a duodenal fistula AE that has severely altered GI function; tube feeding, TPN or hospitalization indicated; elective operative intervention indicated MW, YH Grade 3 duodenal fistula AE CTCAE: E10585 OAE:0003877 a duodenal hemorrhage AE where transfusion, radiologic, endoscopic, or elective operative intervention indicated MW, YH Grade 3 duodenal hemorrhage AE CTCAE: E10591 OAE:0003878 a duodenal obstruction AE that is symptomatic; altered GI function MW, YH Grade 2 duodenal obstruction AE CTCAE: E10596 OAE:0003879 a duodenal stenosis AE that is symptomatic; altered GI function MW, YH Grade 2 duodenal stenosis AE CTCAE: E10607 OAE:0003880 a duodenal stenosis AE that has severely altered GI function; tube feeding; hospitalization indicated; elective operative intervention indicated MW, YH Grade 3 duodenal stenosis AE CTCAE: E10608 OAE:0003881 an esophageal fistula AE that is symptomatic; altered GI function MW, YH Grade 2 esophageal fistula AE CTCAE: E10641 OAE:0003882 an esophageal fistula AE that has severely altered GI function; tube feeding, TPN or hospitalization indicated; elective operative intervention indicated MW, YH Grade 3 esophageal fistula AE CTCAE: E10642 OAE:0003883 an esophageal hemorrhage AE where transfusion, radiologic, endoscopic, or elective operative intervention indicated MW, YH Grade 3 esophageal hemorrhage AE CTCAE: E10648 OAE:0003884 an esophageal necrosis AE that has inability to aliment adequately by GI tract; radiologic, endoscopic, or operative intervention indicated MW, YH Grade 3 esophageal necrosis AE CTCAE: E10652 OAE:0003885 an esophageal obstruction AE that is symptomatic; altered GI function; limiting instrumental activities of daily living MW, YH Grade 2 esophageal obstruction AE CTCAE: E10657 OAE:0003886 an esophageal ulcer AE that is symptomatic; altered GI function; limiting instrumental activities of daily living MW, YH Grade 2 esophageal ulcer AE CTCAE: E10678 OAE:0003887 an esophageal ulcer AE that has severely altered GI function; TPN indicated; elective operative or endoscopic intervention indicated; limiting self care activities of daily living; disabling MW, YH Grade 3 esophageal ulcer AE CTCAE: E10679 OAE:0003888 an esophageal varices hemorrhage AE where transfusion, radiologic, endoscopic, or elective operative intervention indicated MW, YH Grade 3 esophageal varices hemorrhage AE CTCAE: E10684 OAE:0003889 a gastric fistula AE that is symptomatic; altered GI function MW, YH Grade 2 gastric fistula AE CTCAE: E10702 OAE:0003890 a gastric fistula AE that has severely altered GI function; bowel rest; tube feeding, TPN or hospitalization indicated; elective operative intervention indicated MW, YH Grade 3 gastric fistula AE CTCAE: E10703 OAE:0003891 a gastric necrosis AE that has inability to aliment adequately by GI tract; radiologic, endoscopic, or operative intervention indicated MW, YH Grade 3 gastric necrosis AE CTCAE: E10713 OAE:0003892 a gastric stenosis AE that is symptomatic; altered GI function MW, YH Grade 2 gastric stenosis AE CTCAE: E10723 OAE:0003893 a gastric stenosis AE that has severely altered GI function; tube feeding; hospitalization indicated; elective operative intervention indicated MW, YH Grade 3 gastric stenosis AE CTCAE: E10724 OAE:0003894 a gastrointestinal fistula AE that is symptomatic; altered GI function MW, YH Grade 2 gastrointestinal fistula AE CTCAE: E10751 OAE:0003895 a gastrointestinal fistula AE that has severely altered GI function; tube feeding, TPN or hospitalization indicated MW, YH Grade 3 gastrointestinal fistula AE CTCAE: E10752 OAE:0003896 a gastroparesis AE that has mild nausea, early satiety and bloating, able to maintain caloric intake on regular diet MW, YH Grade 1 gastroparesis AE CTCAE: E10760 OAE:0003897 a gastroparesis AE that has moderate symptoms; able to maintain nutrition with dietary and lifestyle modifications; may need pharmacologic intervention MW, YH Grade 2 gastroparesis AE CTCAE: E10761 OAE:0003898 a gastroparesis AE that has weight loss; refractory to medical intervention; unable to maintain nutrition orally MW, YH Grade 3 gastroparesis AE CTCAE: E10762 OAE:0003899 an ileal fistula AE that is symptomatic; altered GI function MW, YH Grade 2 ileal fistula AE CTCAE: E10779 OAE:0003900 an ileal fistula AE that has severely altered GI function; TPN or hospitalization indicated; elective operative intervention indicated MW, YH Grade 3 ileal fistula AE CTCAE: E10780 OAE:0003901 an ileal hemorrhage AE where transfusion, radiologic, endoscopic, or elective operative intervention indicated MW, YH Grade 3 ileal hemorrhage AE CTCAE: E10786 OAE:0003902 an ileal obstruction AE that is symptomatic; altered GI function; limiting instrumental activities of daily living MW, YH Grade 2 ileal obstruction AE CTCAE: E10791 OAE:0003903 an ileal stenosis AE that is symptomatic; altered GI function MW, YH Grade 2 ileal stenosis AE CTCAE: E10802 OAE:0003904 an ileal stenosis AE that has severely altered GI function; tube feeding or hospitalization indicated; elective operative intervention indicated MW, YH Grade 3 ileal stenosis AE CTCAE: E10803 OAE:0003905 an ileal ulcer AE that is symptomatic; altered GI function MW, YH Grade 2 ileal ulcer AE CTCAE: E10808 OAE:0003906 an ileal ulcer AE that has severely altered GI function; TPN indicated; elective operative or endoscopic intervention indicated; disabling MW, YH Grade 3 ileal ulcer AE CTCAE: E10809 OAE:0003907 an intra-abdominal hemorrhage AE where transfusion, radiologic, endoscopic, or elective operative intervention indicated MW, YH Grade 3 intra-abdominal hemorrhage AE CTCAE: E10819 OAE:0003908 a jejunal fistula AE that is symptomatic; altered GI function MW, YH Grade 2 jejunal fistula AE CTCAE: E10824 OAE:0003909 a jejunal fistula AE that has severely altered GI function; TPN or hospitalization indicated; elective operative intervention indicated MW, YH Grade 3 jejunal fistula AE CTCAE: E10825 OAE:0003910 ajejunal hemorrhage AE where transfusion, radiologic, endoscopic, or elective operative intervention indicated MW, YH Grade 3 jejunal hemorrhage AE CTCAE: E10831 OAE:0003911 a jejunal obstruction AE that is symptomatic; altered GI function; limiting instrumental activities of daily living MW, YH Grade 2 jejunal obstruction AE CTCAE: E10836 OAE:0003912 a jejunal stenosis AE that is symptomatic; altered GI function MW, YH Grade 2 jejunal stenosis AE CTCAE: E10847 OAE:0003913 a jejunal stenosis AE that has severely altered GI function; tube feeding or hospitalization indicated; elective operative intervention indicated MW, YH Grade 3 jejunal stenosis AE CTCAE: E10848 OAE:0003914 a jejunal ulcer AE that is symptomatic; altered GI function MW, YH Grade 2 jejunal ulcer AE CTCAE: E10853 OAE:0003915 a jejunal ulcer AE that has severely altered GI function; TPN indicated; elective operative or endoscopic intervention indicated; disabling MW, YH Grade 3 jejunal ulcer AE CTCAE: E10854 OAE:0003916 a lower gastrointestinal hemorrhage AE where transfusion, radiologic, endoscopic, or elective operative intervention indicated MW, YH Grade 3 lower gastrointestinal hemorrhage AE CTCAE: E10864 OAE:0003917 a malabsorption AE where altered diet; oral intervention indicated MW, YH Grade 2 malabsorption AE CTCAE: E10868 OAE:0003918 a malabsorption AE that has inability to aliment adequately; TPN indicated MW, YH Grade 3 malabsorption AE CTCAE: E10869 OAE:0003919 an obstruction gastric AE that is symptomatic; altered GI function; limiting instrumental activities of daily living MW, YH Grade 2 obstruction gastric AE CTCAE: E10884 OAE:0003920 an oral hemorrhage AE where transfusion, radiologic, endoscopic, or elective operative intervention indicated MW, YH Grade 3 oral hemorrhage AE CTCAE: E10901 OAE:0003921 a pancreatic duct stenosis AE that is symptomatic; altered GI function MW, YH Grade 2 pancreatic duct stenosis AE CTCAE: E10910 OAE:0003922 a pancreatic duct stenosis AE that has severely altered GI function; tube feeding or hospitalization indicated; elective operative intervention indicated MW, YH Grade 3 pancreatic duct stenosis AE CTCAE: E10911 OAE:0003923 a pancreatic fistula AE that is symptomatic; altered GI function MW, YH Grade 2 pancreatic fistula AE CTCAE: E10916 OAE:0003924 a pancreatic fistula AE that has severely altered GI function; tube feeding or TPN or hospitalization indicated; elective operative intervention indicated MW, YH Grade 3 pancreatic fistula AE CTCAE: E10917 OAE:0003925 a pancreatic hemorrhage AE where transfusion, radiologic, endoscopic, or elective operative intervention indicated MW, YH Grade 3 pancreatic hemorrhage AE CTCAE: E10923 OAE:0003926 a pancreatic necrosis AE where tube feeding or TPN indicated; radiologic, endoscopic, or operative intervention indicated MW, YH Grade 3 pancreatic necrosis AE CTCAE: E10927 OAE:0003927 a peritoneal necrosis AE where tube feeding or TPN indicated; radiologic, endoscopic, or operative intervention indicated MW, YH Grade 3 peritoneal necrosis AE CTCAE: E10940 OAE:0003928 a proctitis AE that has rectal discomfort, intervention not indicated MW, YH Grade 1 proctitis AE CTCAE: E10944 OAE:0003929 a proctitis AE that has symptoms (e.g., rectal discomfort, passing blood or mucus); medical intervention indicated; limiting instrumental activities of daily living MW, YH Grade 2 proctitis AE CTCAE: E10945 OAE:0003930 a proctitis AE that has severe symptoms; fecal urgency or stool incontinence; limiting self care activities of daily living MW, YH Grade 3 proctitis AE CTCAE: E10946 OAE:0003931 a rectal fistula AE that is symptomatic; altered GI function MW, YH Grade 2 rectal fistula AE CTCAE: E10951 OAE:0003932 a rectal fistula AE that has severely altered GI function; TPN or hospitalization indicated; elective operative intervention indicated MW, YH Grade 3 rectal fistula AE CTCAE: E10952 OAE:0003933 a rectal obstruction AE that is symptomatic; altered GI function; limiting instrumental activities of daily living MW, YH Grade 2 rectal obstruction AE CTCAE: E10973 OAE:0003934 a rectal stenosis AE that is symptomatic; altered GI function MW, YH Grade 2 rectal stenosis AE CTCAE: E10988 OAE:0003935 a rectal stenosis AE that has severely altered GI function; tube feeding or hospitalization indicated; elective operative intervention indicated MW, YH Grade 3 rectal stenosis AE CTCAE: E10989 OAE:0003936 a rectal ulcer AE that is symptomatic; altered GI function (e.g. altered dietary habits, vomiting, diarrhea) MW, YH Grade 2 rectal ulcer AE CTCAE: E10994 OAE:0003937 a rectal ulcer AE that has severely altered GI function; TPN indicated; elective operative or endoscopic intervention indicated; disabling MW, YH Grade 3 rectal ulcer AE CTCAE: E10995 OAE:0003938 a retroperitoneal hemorrhage AE where transfusion, medical, radiologic, endoscopic, or elective operative intervention indicated MW, YH Grade 3 retroperitoneal hemorrhage AE CTCAE: E11000 OAE:0003939 a salivary gland fistula AE that is symptomatic; altered GI function; tube feeding indicated MW, YH Grade 2 salivary gland fistula AE CTCAE: E11011 OAE:0003940 a salivary gland fistula AE that has severely altered GI function; hospitalization indicated; elective operative intervention indicated MW, YH Grade 3 salivary gland fistula AE CTCAE: E11012 OAE:0003941 a tooth discoloration AE that has surface stains MW, YH Grade 1 tooth discoloration AE CTCAE: E11053 OAE:0003942 an edema limbs AE that has 5 - 10% inter-limb discrepancy in volume or circumference at point of greatest visible difference; swelling or obscuration of anatomic architecture on close inspection MW, YH Grade 1 edema limbs AE CTCAE: E11087 OAE:0003943 an edema limbs AE that has more than 10 to 30% inter-limb discrepancy in volume or circumference at point of greatest visible difference; readily apparent obscuration of anatomic architecture; obliteration of skin folds; readily apparent deviation from normal anatomic contour; limiting instrumental activities of daily living MW, YH Grade 2 edema limbs AE CTCAE: E11088 OAE:0003944 an edema limbs AE that has more than 30% inter-limb discrepancy in volume; gross deviation from normal anatomic contour; limiting self care activities of daily living MW, YH Grade 3 edema limbs AE CTCAE: E11089 OAE:0003945 an edema trunk AE that has swelling or obscuration of anatomic architecture on close inspection MW, YH Grade 1 edema trunk AE CTCAE: E11091 OAE:0003946 an edema trunk AE that has readily apparent obscuration of anatomic architecture; obliteration of skin folds; readily apparent deviation from normal anatomic contour; limiting instrumental activities of daily living MW, YH Grade 2 edema trunk AE CTCAE: E11092 OAE:0003947 an edema trunk AE that has gross deviation from normal anatomic contour; limiting self care activities of daily living MW, YH Grade 3 edema trunk AE CTCAE: E11093 OAE:0003948 A neck edema AE that has moderate neck edema; slight obliteration of anatomic landmarks; limiting instrumental activities of daily living MW, YH Grade 2 neck edema AE CTCAE: E11161 OAE:0003949 a neck edema AE that has generalized neck edema (e.g., difficulty in turning neck); limiting self care activities of daily living MW, YH Grade 3 neck edema AE CTCAE: E11162 OAE:0003950 a bile duct stenosis AE that is symptomatic; altered GI function; IV fluids indicated <24 hrs MW, YH Grade 2 bile duct stenosis AE CTCAE: E11175 OAE:0003951 a bile duct stenosis AE that has severely altered GI function; radiologic, endoscopic or elective operative intervention indicated MW, YH Grade 3 bile duct stenosis AE CTCAE: E11176 OAE:0003952 a biliary fistula AE that has severely altered GI function; TPN indicated; endoscopic intervention indicated; elective operative intervention indicated MW, YH Grade 3 biliary fistula AE CTCAE: E11181 OAE:0003953 a gallbladder fistula AE that is symptomatic or severely altered GI function; TPN indicated; radiologic, endoscopic or elective operative intervention indicated MW, YH Grade 3 gallbladder fistula AE CTCAE: E11192 OAE:0003954 a gallbladder obstruction AE that is symptomatic; altered GI function; IV fluids indicated <24 hrs MW, YH Grade 2 gallbladder obstruction AE CTCAE: E11200 OAE:0003955 a gallbladder obstruction AE that is symptomatic and severely altered GI function; tube feeding, TPN or hospitalization indicated; non-emergent operative intervention indicated MW, YH Grade 3 gallbladder obstruction AE CTCAE: E11201 OAE:0003956 a hepatic hemorrhage AE where transfusion indicated MW, YH Grade 3 hepatic hemorrhage AE CTCAE: E11218 OAE:0003957 a perforation bile duct AE where radiologic, endoscopic or elective operative intervention indicated MW, YH Grade 3 perforation bile duct AE CTCAE: E11235 OAE:0003958 an abdominal infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 abdominal infection AE CTCAE: E11283 OAE:0003959 an anorectal infection AE that is localized; local intervention indicated MW, YH Grade 1 anorectal infection AE CTCAE: E11287 OAE:0003960 an anorectal infection AE where oral intervention indicated (e.g., antibiotic, antifungal, antiviral) MW, YH Grade 2 anorectal infection AE CTCAE: E11288 OAE:0003961 an anorectal infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic, endoscopic, or operative intervention indicated MW, YH Grade 3 anorectal infection AE CTCAE: E11289 OAE:0003962 an appendicitis AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 appendicitis AE CTCAE: E11293 OAE:0003963 an arteritis infective AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 arteritis infective AE CTCAE: E11302 OAE:0003964 a biliary tract infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 biliary tract infection AE CTCAE: E11306 OAE:0003965 a bladder infection AE where oral intervention indicated (e.g., antibiotic, antifungal, antiviral) MW, YH Grade 2 bladder infection AE CTCAE: E11310 OAE:0003966 a bladder infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic, endoscopic, or operative intervention indicated MW, YH Grade 3 bladder infection AE CTCAE: E11311 OAE:0003967 a bone infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 bone infection AE CTCAE: E11315 OAE:0003968 a bronchial infection AE that has moderate symptoms; oral intervention indicated (e.g., antibiotic, antifungal, antiviral) MW, YH Grade 2 bronchial infection AE CTCAE: E11324 OAE:0003969 a bronchial infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic, endoscopic, or operative intervention indicated MW, YH Grade 3 bronchial infection AE CTCAE: E11325 OAE:0003970 a cecal infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic, endoscopic, or operative intervention indicated MW, YH Grade 3 cecal infection AE CTCAE: E11334 OAE:0003971 a cervicitis infection AE that is localized; local intervention indicated (e.g., topical antibiotic, antifungal, or antiviral) MW, YH Grade 2 cervicitis infection AE CTCAE: E11338 OAE:0003972 a cervicitis infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 cervicitis infection AE CTCAE: E11339 OAE:0003973 a conjunctivitis infective AE that is localized; local intervention indicated (e.g., topical antibiotic, antifungal, or antiviral) MW, YH Grade 2 conjunctivitis infective AE CTCAE: E11343 OAE:0003974 a conjunctivitis infective AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 conjunctivitis infective AE CTCAE: E11344 OAE:0003975 a corneal infection AE that is localized; local intervention indicated (e.g., topical antibiotic, antifungal, or antiviral) MW, YH Grade 2 corneal infection AE CTCAE: E11348 OAE:0003976 a corneal infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 corneal infection AE CTCAE: E11349 OAE:0003977 a cranial nerve infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 cranial nerve infection AE CTCAE: E11353 OAE:0003978 a duodenal infection AE that has moderate symptoms; medical intervention indicated (e.g., oral antibiotics) MW, YH Grade 2 duodenal infection AE CTCAE: E11361 OAE:0003979 a duodenal infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 duodenal infection AE CTCAE: E11362 OAE:0003980 an encephalitis infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; severe changes in mental status; self-limited seizure activity; focal neurologic abnormalities MW, YH Grade 3 encephalitis infection AE CTCAE: E11366 OAE:0003981 an encephalomyelitis infection AE when IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 encephalomyelitis infection AE CTCAE: E11370 OAE:0003982 an endocarditis infective AE when IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 endocarditis infective AE CTCAE: E11374 OAE:0003983 an endophthalmitis AE that has blindness (20/200 or worse) MW, YH Grade 4 endophthalmitis AE CTCAE: E11380 OAE:0003984 an enterocolitis infectious AE that has the passage of more than 3 unformed stools per 24 hrs or duration of illness longer than 48 hrs; moderate abdominal pain MW, YH Grade 2 enterocolitis infectious AE CTCAE: E11382 OAE:0003985 an enterocolitis infectious AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic, endoscopic, or operative intervention indicated; profuse watery diarrhea with signs of hypovolemia; bloody diarrhea; fever; severe abdominal pain; hospitalization indicated MW, YH Grade 3 enterocolitis infectious AE CTCAE: E11383 OAE:0003986 an esophageal infection AE where local intervention indicated (e.g., oral antibiotic, antifungal, antiviral) MW, YH Grade 2 esophageal infection AE CTCAE: E11387 OAE:0003987 an esophageal infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 esophageal infection AE CTCAE: E11388 OAE:0003988 an eye infection AE that is localized; local intervention indicated (e.g., topical antibiotic, antifungal, or antiviral) MW, YH Grade 2 eye infection AE CTCAE: E11392 OAE:0003989 an eye infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 eye infection AE CTCAE: E11393 OAE:0003990 an eye infection AE that has life-threatening consequences; urgent intervention indicated; enucleation MW, YH Grade 4 eye infection AE CTCAE: E11394 OAE:0003991 a gallbladder infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic, endoscopic, or operative intervention indicated MW, YH Grade 3 gallbladder infection AE CTCAE: E11397 OAE:0003992 a gum infection AE where local therapy indicated (swish and swallow) MW, YH Grade 1 gum infection AE CTCAE: E11401 OAE:0003993 a gum infection AE that has moderate symptoms; oral intervention indicated (e.g., antibiotic, antifungal, antiviral) MW, YH Grade 2 gum infection AE CTCAE: E11402 OAE:0003994 a gum infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 gum infection AE CTCAE: E11403 OAE:0003995 a hepatic infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 hepatic infection AE CTCAE: E11407 OAE:0003996 a infective myositis AE that is localized; local intervention indicated (e.g., topical antibiotic, antifungal, or antiviral) MW, YH Grade 2 infective myositis AE CTCAE: E11422 OAE:0003997 a infective myositis AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 infective myositis AE CTCAE: E11423 OAE:0003998 a joint infection AE that is localized; local intervention indicated; oral intervention indicated (e.g., antibiotic, antifungal, antiviral); needle aspiration indicated (single or multiple) MW, YH Grade 2 joint infection AE CTCAE: E11427 OAE:0003999 a joint infection AE where arthroscopic intervention indicated (e.g., drainage) or arthrotomy (e.g., open surgical drainage) MW, YH Grade 3 joint infection AE CTCAE: E11428 OAE:0004000 a kidney infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic, endoscopic, or operative intervention indicated MW, YH Grade 3 kidney infection AE CTCAE: E11432 OAE:0004001 a lip infection AE that is localized, local intervention indicated MW, YH Grade 1 lip infection AE CTCAE: E11441 OAE:0004002 a lip infection AE where oral intervention indicated (e.g., antibiotic, antifungal, antiviral) MW, YH Grade 2 lip infection AE CTCAE: E11442 OAE:0004003 a lip infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 lip infection AE CTCAE: E11443 OAE:0004004 a lymph gland infection AE that is localized; local intervention indicated (e.g., topical antibiotic, antifungal, or antiviral) MW, YH Grade 2 lymph gland infection AE CTCAE: E11450 OAE:0004005 a lymph gland infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 lymph gland infection AE CTCAE: E11451 OAE:0004006 a mediastinal infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 mediastinal infection AE CTCAE: E11455 OAE:0004007 a mucosal infection AE that is localized, local intervention indicated MW, YH Grade 1 mucosal infection AE CTCAE: E11463 OAE:0004008 a mucosal infection AE where oral intervention indicated (e.g., antibiotic, antifungal, antiviral) MW, YH Grade 2 mucosal infection AE CTCAE: E11464 OAE:0004009 a mucosal infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 mucosal infection AE CTCAE: E11465 OAE:0004010 a nail infection AE that is localized, local intervention indicated MW, YH Grade 1 nail infection AE CTCAE: E11469 OAE:0004011 a nail infection AE where oral intervention indicated (e.g., antibiotic, antifungal, antiviral) MW, YH Grade 2 nail infection AE CTCAE: E11470 OAE:0004012 a nail infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 nail infection AE CTCAE: E11471 OAE:0004013 an otitis externa AE that is localized; local intervention indicated (e.g., topical antibiotic, antifungal, or antiviral) MW, YH Grade 2 otitis externa AE CTCAE: E11473 OAE:0004014 an otitis externa AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 otitis externa AE CTCAE: E11474 OAE:0004015 an ovarian infection AE that is localized; local intervention indicated (e.g., topical antibiotic, antifungal, or antiviral) MW, YH Grade 2 ovarian infection AE CTCAE: E11483 OAE:0004016 an ovarian infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 ovarian infection AE CTCAE: E11484 OAE:0004017 a pancreas infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 pancreas infection AE CTCAE: E11488 OAE:0004018 a paronychia AE that has nail fold edema or erythema; disruption of the cuticle MW, YH Grade 1 paronychia AE CTCAE: E11498 OAE:0004019 a paronychia AE where localized intervention indicated; oral intervention indicated (e.g., antibiotic, antifungal, antiviral); nail fold edema or erythema with pain; associated with discharge or nail plate separation; limiting instrumental activities of daily living MW, YH Grade 2 paronychia AE CTCAE: E11499 OAE:0004020 a paronychia AE where surgical intervention or IV antibiotics indicated; limiting self care activities of daily living MW, YH Grade 3 paronychia AE CTCAE: E11500 OAE:0004021 a pelvic infection AE that has moderate symptoms; oral intervention indicated (e.g., antibiotic, antifungal, antiviral) MW, YH Grade 2 pelvic infection AE CTCAE: E11502 OAE:0004022 a pelvic infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 pelvic infection AE CTCAE: E11503 OAE:0004023 a penile infection AE that is localized; local intervention indicated (e.g., topical antibiotic, antifungal, or antiviral) MW, YH Grade 2 penile infection AE CTCAE: E11507 OAE:0004024 a penile infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 penile infection AE CTCAE: E11508 OAE:0004025 a periorbital infection AE that is localized; local intervention indicated (e.g., topical antibiotic, antifungal, or antiviral) MW, YH Grade 2 periorbital infection AE CTCAE: E11512 OAE:0004026 a periorbital infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 periorbital infection AE CTCAE: E11513 OAE:0004027 a peripheral nerve infection AE that is localized; local intervention indicated (e.g., topical antibiotic, antifungal, or antiviral) MW, YH Grade 2 peripheral nerve infection AE CTCAE: E11517 OAE:0004028 a peripheral nerve infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 peripheral nerve infection AE CTCAE: E11518 OAE:0004029 a peritoneal infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic, endoscopic, or operative intervention indicated MW, YH Grade 3 peritoneal infection AE CTCAE: E11522 OAE:0004030 a phlebitis infective AE that is localized; local intervention indicated (e.g., topical antibiotic, antifungal, or antiviral) MW, YH Grade 2 phlebitis infective AE CTCAE: E11531 OAE:0004031 a phlebitis infective AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 phlebitis infective AE CTCAE: E11532 OAE:0004032 a pleural infection AE that is localized; local intervention indicated (e.g., topical antibiotic, antifungal, or antiviral) MW, YH Grade 2 pleural infection AE CTCAE: E11536 OAE:0004033 a pleural infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic, endoscopic, or operative intervention indicated MW, YH Grade 3 pleural infection AE CTCAE: E11537 OAE:0004034 a prostate infection AE that has moderate symptoms; oral intervention indicated (e.g., antibiotic, antifungal, antiviral) MW, YH Grade 2 prostate infection AE CTCAE: E11541 OAE:0004035 a prostate infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic, endoscopic, or operative intervention indicated MW, YH Grade 3 prostate infection AE CTCAE: E11542 OAE:0004036 a rhinitis infective AE that is localized; local intervention indicated (e.g., topical antibiotic, antifungal, or antiviral) MW, YH Grade 2 rhinitis infective AE CTCAE: E11549 OAE:0004037 a salivary gland infection AE that has moderate symptoms; oral intervention indicated (e.g., antibiotic, antifungal, antiviral) MW, YH Grade 2 salivary gland infection AE CTCAE: E11551 OAE:0004038 a salivary gland infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 salivary gland infection AE CTCAE: E11552 OAE:0004039 a scrotal infection AE that is localized; local intervention indicated (e.g., topical antibiotic, antifungal, or antiviral) MW, YH Grade 2 scrotal infection AE CTCAE: E11556 OAE:0004040 a scrotal infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 scrotal infection AE CTCAE: E11557 OAE:0004041 a small intestine infection AE that has moderate symptoms; oral intervention indicated (e.g., antibiotic, antifungal, antiviral) MW, YH Grade 2 small intestine infection AE CTCAE: E11575 OAE:0004042 a small intestine infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 small intestine infection AE CTCAE: E11576 OAE:0004043 a splenic infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 splenic infection AE CTCAE: E11585 OAE:0004044 a stoma site infection AE that is localized, local intervention indicated MW, YH Grade 1 stoma site infection AE CTCAE: E11589 OAE:0004045 a stoma site infection AE where oral intervention indicated (e.g., antibiotic, antifungal, antiviral) MW, YH Grade 2 stoma site infection AE CTCAE: E11590 OAE:0004046 a stoma site infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic, endoscopic, or operative intervention indicated MW, YH Grade 3 stoma site infection AE CTCAE: E11591 OAE:0004047 a tooth infection AE that is localized; local intervention indicated (e.g., topical antibiotic, antifungal, or antiviral) MW, YH Grade 2 tooth infection AE CTCAE: E11595 OAE:0004048 a tooth infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 tooth infection AE CTCAE: E11596 OAE:0004049 an upper respiratory infection AE that has moderate symptoms; oral intervention indicated (e.g., antibiotic, antifungal, antiviral) MW, YH Grade 2 upper respiratory infection AE CTCAE: E11605 OAE:0004050 an upper respiratory infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic, endoscopic, or operative intervention indicated MW, YH Grade 3 upper respiratory infection AE CTCAE: E11606 OAE:0004051 a urethral infection AE that is localized; local intervention indicated (e.g., topical antibiotic, antifungal, or antiviral) MW, YH Grade 2 urethral infection AE CTCAE: E11610 OAE:0004052 a urethral infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic, endoscopic, or operative intervention indicated MW, YH Grade 3 urethral infection AE CTCAE: E11611 OAE:0004053 a uterine infection AE that has moderate symptoms; oral intervention indicated (e.g., antibiotic, antifungal, antiviral) MW, YH Grade 2 uterine infection AE CTCAE: E11620 OAE:0004054 a uterine infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 uterine infection AE CTCAE: E11621 OAE:0004055 a vulval infection AE that is localized, local intervention indicated MW, YH Grade 1 vulval infection AE CTCAE: E11630 OAE:0004056 A vulval infection AE where oral intervention indicated (e.g., antibiotic, antifungal, antiviral) MW, YH Grade 2 vulval infection AE CTCAE: E11631 OAE:0004057 a vulval infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 vulval infection AE CTCAE: E11632 OAE:0004058 a wound infection AE that is localized; local intervention indicated (e.g., topical antibiotic, antifungal, or antiviral) MW, YH Grade 2 wound infection AE CTCAE: E11636 OAE:0004059 a wound infection AE where IV antibiotic, antifungal, or antiviral intervention indicated; radiologic or operative intervention indicated MW, YH Grade 3 wound infection AE CTCAE: E11637 OAE:0004060 an ankle fracture AE that is mild; non-surgical intervention indicated MW, YH Grade 1 ankle fracture AE CTCAE: E11641 OAE:0004061 an ankle fracture AE that is limiting instrumental activities of daily living; operative intervention indicated MW, YH Grade 2 ankle fracture AE CTCAE: E11642 OAE:0004062 an ankle fracture AE that is limiting self care activities of daily living; elective surgery indicated MW, YH Grade 3 ankle fracture AE CTCAE: E11643 OAE:0004063 an aortic injury AE that has severe symptoms; limiting self care activities of daily living; disabling; repair or revision indicated MW, YH Grade 3 aortic injury AE CTCAE: E11645 OAE:0004064 an aortic injury AE that has life-threatening consequences; evidence of end organ damage; urgent operative intervention indicated MW, YH Grade 4 aortic injury AE CTCAE: E11646 OAE:0004065 an arterial injury AE that is symptomatic (e.g., claudication); repair or revision not indicated MW, YH Grade 2 arterial injury AE CTCAE: E11650 OAE:0004066 an arterial injury AE that has severe symptoms; limiting self care activities of daily living; disabling; repair or revision indicated MW, YH Grade 3 arterial injury AE CTCAE: E11651 OAE:0004067 an arterial injury AE that has life-threatening consequences; evidence of end organ damage; urgent operative intervention indicated MW, YH Grade 4 arterial injury AE CTCAE: E11652 OAE:0004068 a biliary anastomotic leak AE that has severe symptoms; radiologic, endoscopic or elective operative intervention indicated MW, YH Grade 3 biliary anastomotic leak AE CTCAE: E11657 OAE:0004069 a bladder anastomotic leak AE that has severe symptoms; radiologic, endoscopic or elective operative intervention indicated MW, YH Grade 3 bladder anastomotic leak AE CTCAE: E11663 OAE:0004070 an esophageal anastomotic leak AE that has severe symptoms; radiologic, endoscopic or elective operative intervention indicated MW, YH Grade 3 esophageal anastomotic leak AE CTCAE: E11684 OAE:0004071 a fallopian tube anastomotic leak AE that has severe symptoms; radiologic, endoscopic or elective operative intervention indicated MW, YH Grade 3 fallopian tube anastomotic leak AE CTCAE: E11694 OAE:0004072 a fallopian tube perforation AE that has life-threatening consequences; urgent operative intervention indicated (e.g., organ resection) MW, YH Grade 4 fallopian tube perforation AE CTCAE: E11701 OAE:0004073 a gastric anastomotic leak AE that has severe symptoms; radiologic, endoscopic or elective operative intervention indicated MW, YH Grade 3 gastric anastomotic leak AE CTCAE: E11712 OAE:0004074 a gastrointestinal anastomotic leak AE that has severe symptoms; radiologic, endoscopic or elective operative intervention indicated MW, YH Grade 3 gastrointestinal anastomotic leak CTCAE: E11718 OAE:0004075 a gastrointestinal stoma necrosis AE that is a superficial necrosis; intervention not indicated MW, YH Grade 2 gastrointestinal stoma necrosis CTCAE: E11722 OAE:0004076 a hip fracture AE that has a hairline fracture; mild pain; limiting instrumental activities of daily living; non-surgical intervention indicated MW, YH Grade 2 hip fracture AE CTCAE: E11727 OAE:0004077 a hip fracture AE that has severe pain; hospitalization or intervention indicated for pain control (e.g., traction); operative intervention indicated MW, YH Grade 3 hip fracture AE CTCAE: E11728 OAE:0004078 a hip fracture AE that has life-threatening consequences; symptoms associated with neurovascular compromise MW, YH Grade 4 hip fracture AE CTCAE: E11729 OAE:0004079 an injury to carotid artery AE that has severe symptoms; limiting self care activities of daily living (e.g., transient cerebral ischemia); repair or revision indicated MW, YH Grade 3 injury to carotid artery AE CTCAE: E11731 OAE:0004080 an injury to jugular vein AE that is symptomatic limiting self care activities of daily living; disabling; repair or revision indicated MW, YH Grade 3 injury to jugular vein AE CTCAE: E11738 OAE:0004081 an injury to superior vena cava AE that has severe symptoms; limiting self care activities of daily living; disabling; repair or revision indicated MW, YH Grade 3 injury to superior vena cava AE CTCAE: E11744 OAE:0004082 a injury to superior vena cava AE that has life-threatening consequences; evidence of end organ damage; urgent operative intervention indicated MW, YH Grade 4 injury to superior vena cava AE CTCAE: E11745 OAE:0004083 an intestinal stoma leak AE that has severe symptoms; radiologic, endoscopic or elective operative intervention indicated MW, YH Grade 3 intestinal stoma leak AE CTCAE: E11756 OAE:0004084 an intestinal stoma leak AE that has severe symptoms; IV fluids, tube feeding, or TPN indicated greater than or equal to 24 hrs; elective operative intervention indicated MW, YH Grade 3 intestinal stoma leak AE CTCAE: E11761 OAE:0004085 an intestinal stoma site bleeding AE that has minimal bleeding identified on clinical exam; intervention not indicated MW, YH Grade 1 intestinal stoma site bleeding AE CTCAE: E11765 OAE:0004086 an intestinal stoma site bleeding AE that has severe bleeding; transfusion indicated; radiologic or endoscopic intervention indicated MW, YH Grade 3 intestinal stoma site bleeding AE CTCAE: E11767 OAE:0004087 an intraoperative arterial injury AE where primary repair of injured organ/structure indicated MW, YH Grade 1 intraoperative arterial injury AE CTCAE: E11771 OAE:0004088 an intraoperative arterial injury AE where partial resection of injured organ/structure indicated MW, YH Grade 2 intraoperative arterial injury AE CTCAE: E11772 OAE:0004089 an intraoperative arterial injury AE where complete resection or reconstruction of injured organ/structure indicated; disabling MW, YH Grade 3 intraoperative arterial injury AE CTCAE: E11773 OAE:0004090 an intraoperative breast injury AE where primary repair of injured organ/structure indicated MW, YH Grade 1 intraoperative breast injury AE CTCAE: E11777 OAE:0004091 an intraoperative breast injury AE where partial resection of injured organ/structure indicated MW, YH Grade 2 intraoperative breast injury AE CTCAE: E11778 OAE:0004092 an intraoperative breast injury AE where complete resection or reconstruction of injured organ/structure indicated; disabling MW, YH Grade 3 intraoperative breast injury AE CTCAE: E11779 OAE:0004093 an intraoperative cardiac injury AE where primary repair of injured organ/structure indicated MW, YH Grade 3 intraoperative cardiac injury AE CTCAE: E11783 OAE:0004094 an intraoperative ear injury AE where primary repair of injured organ/structure indicated MW, YH Grade 1 intraoperative ear injury AE CTCAE: E11787 OAE:0004095 an intraoperative ear injury AE where partial resection of injured organ/structure indicated MW, YH Grade 2 intraoperative ear injury AE CTCAE: E11788 OAE:0004096 an intraoperative ear injury AE where complete resection of injured organ/structure indicated; disabling (e.g., impaired hearing; impaired balance) MW, YH Grade 3 intraoperative ear injury AE CTCAE: E11789 OAE:0004097 an intraoperative endocrine injury AE where primary repair of injured organ/structure indicated MW, YH Grade 1 intraoperative endocrine injury AE CTCAE: E11793 OAE:0004098 an intraoperative endocrine injury AE where partial resection of injured organ/structure indicated MW, YH Grade 2 intraoperative endocrine injury AE CTCAE: E11794 OAE:0004099 an intraoperative endocrine injury AE where complete resection or reconstruction of injured organ/structure indicated; disabling MW, YH Grade 3 intraoperative endocrine injury AE CTCAE: E11795 OAE:0004100 an intraoperative gastrointestinal injury AE where primary repair of injured organ/structure indicated MW, YH Grade 1 intraoperative gastrointestinal injury AE CTCAE: E11799 OAE:0004101 an intraoperative gastrointestinal injury AE where partial resection of injured organ/structure indicated MW, YH Grade 2 intraoperative gastrointestinal injury AE CTCAE: E11800 OAE:0004102 an intraoperative gastrointestinal injury AE where complete resection or reconstruction of injured organ/structure indicated; disabling MW, YH Grade 3 intraoperative gastrointestinal injury AE CTCAE: E11801 OAE:0004103 a lintraoperative head and neck injury AE where primary repair of injured organ/structure indicated MW, YH Grade 1 lintraoperative head and neck injury AE CTCAE: E11805 OAE:0004104 a lintraoperative head and neck injury AE where partial resection of injured organ/structure indicated MW, YH Grade 2 lintraoperative head and neck injury AE CTCAE: E11806 OAE:0004105 a lintraoperative head and neck injury AE where complete resection or reconstruction of injured organ/structure indicated; disabling MW, YH Grade 3 lintraoperative head and neck injury AE CTCAE: E11807 OAE:0004106 an intraoperative hepatobiliary injury AE where primary repair of injured organ/structure indicated MW, YH Grade 1 intraoperative hepatobiliary injury AE CTCAE: E11815 OAE:0004107 an intraoperative hepatobiliary injury AE where partial resection of injured organ/structure indicated MW, YH Grade 2 intraoperative hepatobiliary injury AE CTCAE: E11816 OAE:0004108 an intraoperative hepatobiliary injury AE where complete resection or reconstruction of injured organ/structure indicated; disabling MW, YH Grade 3 intraoperative hepatobiliary injury AE CTCAE: E11817 OAE:0004109 an intraoperative musculoskeletal injury AE where primary repair of injured organ/structure indicated MW, YH Grade 1 intraoperative musculoskeletal injury AE CTCAE: E11821 OAE:0004110 an intraoperative musculoskeletal injury AE where partial resection of injured organ/structure indicated MW, YH Grade 2 intraoperative musculoskeletal injury AE CTCAE: E11822 OAE:0004111 an intraoperative musculoskeletal injury AE where complete resection or reconstruction of injured organ/structure indicated; disabling MW, YH Grade 3 intraoperative musculoskeletal injury AE CTCAE: E11823 OAE:0004112 an intraoperative neurological injury AE where primary repair of injured organ/structure indicated MW, YH Grade 1 intraoperative neurological injury AE CTCAE: E11827 OAE:0004113 an intraoperative neurological injury AE where partial resection of injured organ/structure indicated MW, YH Grade 2 intraoperative neurological injury AE CTCAE: E11828 OAE:0004114 an intraoperative neurological injury AE where complete resection or reconstruction of injured organ/structure indicated; disabling MW, YH Grade 3 intraoperative neurological injury AE CTCAE: E11829 OAE:0004115 an intraoperative ocular injury AE where primary repair of injured organ/structure indicated MW, YH Grade 1 intraoperative ocular injury AE CTCAE: E11833 OAE:0004116 an intraoperative ocular injury AE where partial resection of injured organ/structure indicated MW, YH Grade 2 intraoperative ocular injury AE CTCAE: E11834 OAE:0004117 an intraoperative ocular injury AE where complete resection or reconstruction of injured organ/structure indicated; disabling MW, YH Grade 3 intraoperative ocular injury AE CTCAE: E11835 OAE:0004118 an intraoperative renal injury AE where primary repair of injured organ/structure indicated MW, YH Grade 1 intraoperative renal injury AE CTCAE: E11839 OAE:0004119 an intraoperative renal injury AE where partial resection of injured organ/structure indicated MW, YH Grade 2 intraoperative renal injury AE CTCAE: E11840 OAE:0004120 an intraoperative renal injury AE where complete resection or reconstruction of injured organ/structure indicated; disabling MW, YH Grade 3 intraoperative renal injury AE CTCAE: E11841 OAE:0004121 an intraoperative reproductive tract injury AE where primary repair of injured organ/structure indicated MW, YH Grade 1 intraoperative reproductive tract injury AE CTCAE: E11845 OAE:0004122 an intraoperative reproductive tract injury AE where partial resection of injured organ/structure indicated MW, YH Grade 2 intraoperative reproductive tract injury AE CTCAE: E11846 OAE:0004123 an intraoperative reproductive tract injury AE where complete resection or reconstruction of injured organ/structure indicated; disabling MW, YH Grade 3 intraoperative reproductive tract injury AE CTCAE: E11847 OAE:0004124 an intraoperative respiratory injury AE where primary repair of injured organ/structure indicated MW, YH Grade 1 intraoperative respiratory injury AE CTCAE: E11851 OAE:0004125 an intraoperative respiratory injury AE where partial resection of injured organ/structure indicated MW, YH Grade 2 intraoperative respiratory injury AE CTCAE: E11852 OAE:0004126 an intraoperative respiratory injury AE where complete resection or reconstruction of injured organ/structure indicated; disabling MW, YH Grade 3 intraoperative respiratory injury AE CTCAE: E11853 OAE:0004127 an intraoperative skin injury AE where primary repair of injured organ/structure indicated MW, YH Grade 1 intraoperative skin injury AE CTCAE: E11857 OAE:0004128 an intraoperative skin injury AE where partial resection of injured organ/structure indicated MW, YH Grade 2 intraoperative skin injury AE CTCAE: E11858 OAE:0004129 an intraoperative skin injury AE where complete resection or reconstruction of injured organ/structure indicated; disabling MW, YH Grade 3 intraoperative skin injury AE CTCAE: E11859 OAE:0004130 an intraoperative splenic injury AE where primary repair of injured organ/structure indicated MW, YH Grade 2 intraoperative splenic injury AE CTCAE: E11863 OAE:0004131 an intraoperative splenic injury AE where resection or reconstruction of injured organ/structure indicated; disabling MW, YH Grade 3 intraoperative splenic injury AE CTCAE: E11864 OAE:0004132 an intraoperative urinary injury AE where primary repair of injured organ/structure indicated MW, YH Grade 1 intraoperative urinary injury AE CTCAE: E11868 OAE:0004133 an intraoperative urinary injury AE where partial resection of injured organ/structure indicated MW, YH Grade 2 intraoperative urinary injury AE CTCAE: E11869 OAE:0004134 an intraoperative urinary injury AE where complete resection or reconstruction of injured organ/structure indicated; disabling MW, YH Grade 3 intraoperative urinary injury AE CTCAE: E11870 OAE:0004135 an intraoperative venous injury AE where primary repair of injured organ/structure indicated MW, YH Grade 1 intraoperative venous injury AE CTCAE: E11874 OAE:0004136 an intraoperative venous injury AE where partial resection of injured organ/structure indicated MW, YH Grade 2 intraoperative venous injury AE CTCAE: E11875 OAE:0004137 an intraoperative venous injury AE where complete resection or reconstruction of injured organ/structure indicated; disabling MW, YH Grade 3 intraoperative venous injury AE CTCAE: E11876 OAE:0004138 a kidney anastomotic leak AE that has severe symptoms; radiologic, endoscopic or elective operative intervention indicated MW, YH Grade 3 kidney anastomotic leak AE CTCAE: E11882 OAE:0004139 a large intestinal anastomotic leak AE that has severe symptoms; radiologic, endoscopic or elective operative intervention indicated MW, YH Grade 3 large intestinal anastomotic leak AE CTCAE: E11888 OAE:0004140 a pancreatic anastomotic leak AE that has severe symptoms; radiologic, endoscopic or elective operative intervention indicated MW, YH Grade 3 pancreatic anastomotic leak AE CTCAE: E11894 OAE:0004141 a pharyngeal anastomotic leak AE that has severe symptoms; radiologic, endoscopic or elective operative intervention indicated MW, YH Grade 3 pharyngeal anastomotic leak AE CTCAE: E11900 OAE:0004142 a postoperative hemorrhage AE that has moderate bleeding; radiologic, endoscopic, or operative intervention indicated MW, YH Grade 2 postoperative hemorrhage AE CTCAE: E11905 OAE:0004143 a postoperative hemorrhage AE where transfusion indicated of greather than or equal to 2 units (10 cc/kg for pediatrics) pRBCs beyond protocol specification; urgent radiologic, endoscopic, or operative intervention indicated MW, YH Grade 3 postoperative hemorrhage AE CTCAE: E11906 OAE:0004144 a postoperative thoracic procedure complication AE when the patient is extubated within 24 - 72 hrs postoperatively MW, YH Grade 2 postoperative thoracic procedure complication AE CTCAE: E11910 OAE:0004145 a postoperative thoracic procedure complication AE when the patient is extubated more than 72 hrs postoperatively, but before tracheostomy indicated MW, YH Grade 3 postoperative thoracic procedure complication AE CTCAE: E11911 OAE:0004146 a postoperative thoracic procedure complication AE that has life-threatening airway compromise; urgent intervention indicated (e.g., tracheotomy or intubation) MW, YH Grade 3 postoperative thoracic procedure complication AE CTCAE: E11912 OAE:0004147 a prolapse of intestinal stoma AE that is asymptomatic; reducible MW, YH Grade 1 prolapse of intestinal stoma AE CTCAE: E11915 OAE:0004148 a prolapse of intestinal stoma AE that is recurrent after manual reduction; local irritation or stool leakage; difficulty to fit appliance; limiting instrumental activities of daily living MW, YH Grade 2 prolapse of intestinal stoma AE CTCAE: E11916 OAE:0004149 a prolapse of urostomy AE treated with local care or maintenance; minor revision indicated MW, YH Grade 2 prolapse of urostomy AE CTCAE: E11922 OAE:0004150 a prolapse of urostomy AE that has dysfunctional stoma; elective operative intervention or major stomal revision indicated MW, YH Grade 3 prolapse of urostomy AE CTCAE: E11923 OAE:0004151 a radiation recall reaction (dermatologic) AE that has faint erythema or dry desquamation MW, YH Grade 1 radiation recall reaction (dermatologic) AE CTCAE: E11927 OAE:0004152 a radiation recall reaction (dermatologic) AE that has moderate to brisk erythema; patchy moist desquamation, mostly confined to skin folds and creases; moderate edema MW, YH Grade 2 radiation recall reaction (dermatologic) AE CTCAE: E11928 OAE:0004153 a radiation recall reaction (dermatologic) AE that has moist desquamation in areas other than skin folds and creases; bleeding induced by minor trauma or abrasion MW, YH Grade 3 radiation recall reaction (dermatologic) AE CTCAE: E11929 OAE:0004154 a radiation recall reaction (dermatologic) AE that has life-threatening consequences; skin necrosis or ulceration of full thickness dermis; spontaneous bleeding from involved site; skin graft indicated MW, YH Grade 4 radiation recall reaction (dermatologic) AE CTCAE: E11930 OAE:0004155 a rectal anastomotic leak AE that has severe symptoms; radiologic, endoscopic or elective operative intervention indicated MW, YH Grade 3 rectal anastomotic leak AE CTCAE: E11935 OAE:0004156 a seroma AE that is symptomatic; simple aspiration indicated MW, YH Grade 2 seroma AE CTCAE: E11940 OAE:0004157 a seroma AE that is symptomatic, elective radiologic or operative intervention indicated MW, YH Grade 3 seroma AE CTCAE: E11941 OAE:0004158 a small intestinal anastomotic leak AE that has severe symptoms; radiologic, endoscopic or elective operative intervention indicated MW, YH Grade 3 small intestinal anastomotic leak AE CTCAE: E11945 OAE:0004159 a spermatic cord anastomotic leak AE that has severe symptoms; radiologic, endoscopic or elective operative intervention indicated MW, YH Grade 3 spermatic cord anastomotic leak AE CTCAE: E11951 OAE:0004160 a spinal fracture AE that has mild back pain; nonprescription analgesics indicated MW, YH Grade 1 spinal fracture AE CTCAE: E11955 OAE:0004161 a spinal fracture AE that has moderate back pain; prescription analgesics indicated; limiting instrumental activities of daily living MW, YH Grade 2 spinal fracture AE CTCAE: E11956 OAE:0004162 a spinal fracture AE that has severe back pain; hospitalization or intervention indicated for pain control (e.g., vertebroplasty); limiting self care activities of daily living; disability MW, YH Grade 3 spinal fracture AE CTCAE: E11957 OAE:0004163 a spinal fracture AE that has life-threatening consequences; symptoms associated with neurovascular compromise MW, YH Grade 4 spinal fracture AE CTCAE: E11958 OAE:0004164 a stenosis of gastrointestinal stoma AE that is symptomatic; IV fluids indicated <24 hrs; manual dilation at bedside MW, YH Grade 2 stenosis of gastrointestinal stoma AE CTCAE: E11961 OAE:0004165 a stenosis of gastrointestinal stoma AE that has severely altered GI function; tube feeding, TPN or hospitalization indicated; elective operative intervention indicated MW, YH Grade 3 stenosis of gastrointestinal stoma AE CTCAE: E11962 OAE:0004166 a tracheal hemorrhage AE that has severe bleeding; transfusion indicated; radiologic or endoscopic intervention indicated MW, YH Grade 3 tracheal hemorrhage AE CTCAE: E11972 OAE:0004167 a tracheal obstruction AE that has partial asymptomatic obstruction on examination (e.g., visual, radiologic or endoscopic) MW, YH Grade 1 tracheal obstruction AE CTCAE: E11976 OAE:0004168 a tracheal obstruction AE that is symptomatic (e.g., noisy airway breathing), no respiratory distress; medical intervention indicated (e.g., steroids); limiting instrumental activities of daily living MW, YH Grade 2 tracheal obstruction AE CTCAE: E11977 OAE:0004169 a tracheal obstruction AE that has stridor; radiologic or endoscopic intervention indicated (e.g., stent, laser); limiting self care activities of daily living MW, YH Grade 3 tracheal obstruction AE CTCAE: E11978 OAE:0004170 a tracheal obstruction AE that has life-threatening airway compromise; urgent intervention indicated (e.g., tracheotomy or intubation) MW, YH Grade 4 tracheal obstruction AE CTCAE: E11979 OAE:0004171 a tracheostomy site bleeding AE that has severe bleeding; transfusion indicated; radiologic or endoscopic intervention indicated MW, YH Grade 3 tracheostomy site bleeding AE CTCAE: E11984 OAE:0004172 an ureteric anastomotic leak AE that has severe symptoms; radiologic, endoscopic or elective operative intervention indicated MW, YH Grade 3 ureteric anastomotic leak AE CTCAE: E11990 OAE:0004173 an urethral anastomotic leak AE that has severe symptoms; radiologic, endoscopic or elective operative intervention indicated MW, YH Grade 3 urethral anastomotic leak CTCAE: E11996 OAE:0004174 a urostomy leak AESevere symptoms; radiologic, endoscopic or elective operative intervention indicated MW, YH Grade 3 urostomy leak AE CTCAE: E12002 OAE:0004175 a urostomy obstruction AE that is symptomatic; dilation or endoscopic repair or stent placement indicated MW, YH Grade 2 urostomy obstruction AE CTCAE: E12007 OAE:0004176 a urostomy site bleeding AE that has severe bleeding; transfusion indicated; radiologic or endoscopic intervention indicated MW, YH Grade 3 urostomy site bleeding AE CTCAE: E12014 OAE:0004177 a urostomy stenosis AE that is symptomatic but no hydronephrosis, no sepsis or no renal dysfunction; dilation or endoscopic repair or stent placement indicated MW, YH Grade 2 urostomy stenosis AE CTCAE: E12018 OAE:0004178 a urostomy stenosis AE that is symptomatic (e.g., hydronephrosis, or renal dysfunction); elective operative intervention indicated MW, YH Grade 3 urostomy stenosis AE CTCAE: E12019 OAE:0004179 a uterine anastomotic leak AE that has severe symptoms; radiologic, endoscopic or elective operative intervention indicated MW, YH Grade 3 uterine anastomotic leak AE CTCAE: E12025 OAE:0004180 a vaginal anastomotic leak AE that has severe symptoms; radiologic, endoscopic or elective operative intervention indicated MW, YH Grade 3 vaginal anastomotic leak AE CTCAE: E12037 OAE:0004181 a vas deferens anastomotic leak AE that has severe symptoms; radiologic, endoscopic or elective operative intervention indicated MW, YH Grade 3 vas deferens anastomotic leak AE CTCAE: E12043 OAE:0004182 a vascular access complication AE that has device dislodgement, blockage, leak, or malposition; device replacement indicated MW, YH Grade 2 vascular access complication AE CTCAE: E12047 OAE:0004183 A vascular access complication AE that has deep vein or cardiac thrombosis; intervention indicated (e.g., anticoagulation, lysis, filter, invasive procedure) MW, YH Grade 3 vascular access complication AE CTCAE: E12048 OAE:0004184 a vascular access complication AE that has embolic event including pulmonary embolism or life-threatening thrombus MW, YH Grade 4 vascular access complication AE CTCAE: E12049 OAE:0004185 a blood antidiuretic hormone abnormal AE where hospitalization indicated MW, YH Grade 3 blood antidiuretic hormone abnormal AE CTCAE: E12095 OAE:0004186 a blood corticotrophin decreased AE where hospitalization indicated MW, YH Grade 3 blood corticotrophin decreased AE CTCAE: E12104 OAE:0004187 a carbon monoxide diffusing capacity decreased AE that is 3 - 5 units below lower limit of normal; for follow-up, a decrease of 3 - 5 units (ml/min/mm Hg) below the baseline value MW, YH Grade 1 carbon monoxide diffusing capacity decreased AE CTCAE: E12113 OAE:0004188 a carbon monoxide diffusing capacity decreased AE that is 6 - 8 units below lower limit of normal; for follow-up, an asymptomatic decrease of greater than 5 - 8 units (ml/min/mm Hg) below the baseline value MW, YH Grade 2 carbon monoxide diffusing capacity decreased AE CTCAE: E12114 OAE:0004189 a carbon monoxide diffusing capacity decreased AE that is an asymptomatic decrease of greater than 8 units drop; greater than 5 units drop along with the presence of pulmonary symptoms (e.g. , greater than Grade 2 hypoxia or greater than Grade 2 or higher dyspnea) MW, YH Grade 3 carbon monoxide diffusing capacity decreased AE CTCAE: E12115 OAE:0004190 a cardiac troponin I increased AE that has levels above the upper limit of normal and below the level of myocardial infarction as defined by the manufacturer MW, YH Grade 1 cardiac troponin I increased AE CTCAE: E12117 OAE:0004191 a cardiac troponin I increased AE that has levels consistent with myocardial infarction as defined by the manufacturer MW, YH Grade 3 cardiac troponin I increased AE CTCAE: E12118 OAE:0004192 a cardiac troponin T increased AE that has levels above the upper limit of normal and below the level of myocardial infarction as defined by the manufacturer MW, YH Grade 1 cardiac troponin T increased AE CTCAE: E12120 OAE:0004193 a cardiac troponin T increased AE that has levels consistent with myocardial infarction as defined by the manufacturer MW, YH Grade 3 cardiac troponin T increased AE CTCAE: E12121 OAE:0004194 a CD4 lymphocytes decreased AE that is less than the lower limit of normal to 500/mm3 or 0.5 x 10e9 /L MW, YH Grade 1 CD4 lymphocytes decreased AE CTCAE: E12123 OAE:0004195 a CD4 lymphocytes decreased AE that is less than 500 - 200/mm3; less than 0.5 - 0.2 x 10e9 /L MW, YH Grade 2 CD4 lymphocytes decreased AE CTCAE: E12124 OAE:0004196 a CD4 lymphocytes decreased AE that is less than 200 - 50/mm3; less than 0.2 x 0.05 - 10e9 /L MW, YH Grade 3 CD4 lymphocytes decreased AE CTCAE: E12125 OAE:0004197 a CD4 lymphocytes decreased AE that is less than 50/mm3; less than 0.05 x 10e9 /L MW, YH Grade 4 CD4 lymphocytes decreased AE CTCAE: E12126 OAE:0004198 a CPK increased AE that is greater than the upper limit of normal to 2.5 times the upper limit of normal MW, YH Grade 1 CPK increased AE CTCAE: E12133 OAE:0004199 a CPK increased AE that is greater than 2.5 -5 times the upper limit of normal MW, YH Grade 2 CPK increased AE CTCAE: E12134 OAE:0004200 a CPK increased AE that is greater than 5 to 10 times the upper limit of normal MW, YH Grade 3 CPK increased AE CTCAE: E12135 OAE:0004201 a CPK increased AE that is greater than 10 times the upper limit of normal MW, YH Grade 4 CPK increased AE CTCAE: E12136 OAE:0004202 a fibrinogen decreased AE that is less than 1.0 - 0.75 times the lower limit of normal or less than 25% decrease from baseline MW, YH Grade 1 fibrinogen decreased AE CTCAE: E12152 OAE:0004203 a fibrinogen decreased AE that is less than 0.75 - 0.5 times the lower limit of normal or 25 - less than 50% decrease from baseline MW, YH Grade 2 fibrinogen decreased AE CTCAE: E12153 OAE:0004204 a fibrinogen decreased AE that is less than 0.5 - 0.25 times the lower limit of normal or 50 - less than 75% decrease from baseline MW, YH Grade 3 fibrinogen decreased AE CTCAE: E12154 OAE:0004205 a fibrinogen decreased AE that is less than 0.25 times the lower limit of normal or 75% decrease from baseline or absolute value less than 50 mg/dL MW, YH Grade 4 fibrinogen decreased AE CTCAE: E12155 OAE:0004206 a haptoglobin decreased AE that is less than the lower limit of normal MW, YH Grade 1 haptoglobin decreased AE CTCAE: E12170 OAE:0004207 a pancreatic enzymes decreased AE that is less than the lower limit of normal and asymptomatic MW, YH Grade 1 pancreatic enzymes decreased AE CTCAE: E12204 OAE:0004208 a pancreatic enzymes decreased AE that has an increase in stool frequency, bulk, or odor; steatorrhea MW, YH Grade 2 pancreatic enzymes decreased AE CTCAE: E12205 OAE:0004209 a pancreatic enzymes decreased AE that has sequelae of absorption deficiency MW, YH Grade 3 pancreatic enzymes decreased AE CTCAE: E12206 OAE:0004210 a vital capacity abnormal AE that has 90 - 75% of predicted value MW, YH Grade 1 vital capacity abnormal AE CTCAE: E12221 OAE:0004211 a vital capacity abnormal AE that is less than 75 - 50% of predicted value; limiting instrumental activities of daily living MW, YH Grade 2 vital capacity abnormal AE CTCAE: E12222 OAE:0004212 a vital capacity abnormal AE that is less than 50% of predicted value; limiting self care activities of daily living MW, YH Grade 3 vital capacity abnormal AE CTCAE: E12223 OAE:0004213 a seizure AE that occurs in a pregnant women that follows a preeclampsia. Such a seizure is not related to an existing brain condition. JS, YH WEB: https://en.wikipedia.org/wiki/Eclampsia WEB: https://www.nlm.nih.gov/medlineplus/ency/article/000899.htm 10014129 eclampsia AE OAE:0004214 a gastric disorder AE that shows the body under stress, causing acute erosion, bleeding and ulcers, stomach or duodenal mucosa damage collectively. The main clinical manifestations include upper gastrointestinal bleeding and a small perforation. QL, YH AGML AE WEB: http://medmantic.com/wiki/Acute_Gastric_Mucosal_Lesion 急性胃黏膜损害 10000753 acute gastric mucosal lesion AE OAE:0004215 a bowel sounds abnormal AE that shows an increased amount of bowel sounds. QL, YH WEB: https://www.nlm.nih.gov/medlineplus/ency/article/003137.htm hyperactive bowel sounds AE 肠鸣音亢进 10048720 bowel sounds increased AE UMLS CUI: C0232694 OAE:0004216 a bowel sounds abnormal AE that shows a decreased amount of bowel sounds. QL, YH WEB: https://www.nlm.nih.gov/medlineplus/ency/article/003137.htm hypoactive bowel sounds AE 肠鸣音减弱 bowel sounds decreased AE UMLS CUI: C0232695 OAE:0004217 a gastrointestinal disorder AE that shows an abnormal amount of bowel sounds. QL, YH WEB: https://www.nlm.nih.gov/medlineplus/ency/article/003137.htm 肠鸣音异常 bowel sounds abnormal AE UMLS CUI: C0159060 OAE:0004218 a bowel sounds abnormal AE that shows an cesssation of any bowel sounds. QL, YH WEB: https://www.nlm.nih.gov/medlineplus/ency/article/003137.htm 肠鸣音停止 肠鸣音消失 cessation of bowel sounds AE UMLS CUI: C0857330 OAE:0004219 a migraine AE which shows a migraine preceded or accompanied by sensory warning signs or symptoms, such as flashes of light, blind spots, or tingling in your hand or face. SJ, YH WEB: http://www.mayoclinic.org/diseases-conditions/migraine-with-aura/basics/definition/con-20030404 10027607 migraine with aura AE OAE:0004220 a hearing disorder AE with an abnormally disproportionate increase in the sensation of loudness in response to auditory stimuli of normal volume QL, YH WEB: https://en.wikipedia.org/wiki/Hyperacusis 听觉过敏 10052526 hyperacusia AE OAE:0004221 a back pain AE that occurs at the low back QL, YH low back pain AE WEB: https://en.wikipedia.org/wiki/Low_back_pain 下背痛 腰痛 lumbago AE OAE:0004222 a paralysis AE which occurs in a single limb, usually an arm SJ, YH WEB: http://en.wikipedia.org/wiki/Monoplegia 10027926 monoplegia AE OAE:0004223 a behavior and neurological AE which results in abnormal, disturbed or impaired functioning of a muscle, nerve, or center that affects or produces movement SJ, YH WEB: http://connection.ebscohost.com/c/reference-entries/23076155/motor-dysfunction 10061296 motor dysfunction AE OAE:0004224 a discomfort AE that occurs at the musculoskeletal level and results in musculoskeletal pain that affects the bones, muscles, ligaments, tendons, and nerves SJ, YH musculoskeletal pain AE WEB: http://my.clevelandclinic.org/health/diseases_conditions/hic_musculoskeletal_pain 10053156 musculoskeletal discomfort AE OAE:0004225 a musculoskeletal and connective tissue AE which results in a disease or abnormal condition of the musculoskeletal system SJ, YH 10048592 musculoskeletal disorder AE OAE:0004226 a urinary system AE which shows reduced excretion of urine SJ, YH WEB: http://c.merriam-webster.com/medlineplus/oliguria 10030302 oliguria AE OAE:0004227 a hypotension AE that happens during a medical procedure SJ, YH WEB: http://www.mayoclinic.org/diseases-conditions/low-blood-pressure/basics/definition/con-20032298 10062300 procedural hypotension AE OAE:0004228 a digestive system AE that occurs at esophagus YH, MW 食道副作用 esophagus AE OAE:0004229 a digestive system AE that occurs at anus YH, MW anus AE OAE:0004230 a digestive system AE that occurs at duodenum MW, YH duodenum AE OAE:0004231 QL, YH URL http://howshealth.com/kidney-pain-location-causes-symptoms-treatment/#percussion 肾区叩击痛 a renal pain AE that shows the pain in the kidney area identified by a percussion procedure. kidney area percussion pain AE OAE:0004234 a urine analysis result abnomal AE that shows cylindrical structures produced by the kidney and present in the urine. QL, YH urinary casts present AE WEB: http://medical-dictionary.thefreedictionary.com/cylindruria 管型尿 10011730 10067534 cylindruria AE OAE:0004235 a hepatitis AE that resutls in a hepatitis A viral infection. JX, YH hepatitis A AE WEB: https://en.wikipedia.org/wiki/Hepatitis_A 10019719 hepatitis A AE OAE:0004236 a connective tissue disorder AE that shows an inflammation of the fascia, the connective tissue surrounding muscles, blood vessels, and nerves. JX, YH WEB: https://en.wikipedia.org/wiki/Fasciitis 筋膜炎 10016228 fasciitis AE OAE:0004237 A tendon disorder AE that led to the formation of fibrous tissue in the tendon area JX, YH WEB: http://study.com/academy/lesson/fibrous-connective-tissue-function-types.html 10016662 fibrosis tendinous AE OAE:0004238 a fasciitis AE that shows an inflammation of the muscle fascia, the connective tissue surrounding muscles. JX, YH WEB: https://en.wikipedia.org/wiki/Fasciitis 肌筋膜炎 10052443 myofascitis AE OAE:0004239 an eye disorder AE that causes visual disturbance and interfere with normal sight. JX, YH WEB: http://www.healthline.com/symptom/visual-disturbance 10047543 visual disturbance AE OAE:0004240 a cognitive disturbance AE that has mild cognitive disability; not interfering with work/school/life performance; specialized educational services/devices not indicated MW, YH Grade 1 cognitive disturbance AE CTCAE: E12618 OAE:0004241 a cognitive disturbance AE that has moderate cognitive disability; interfering with work/school/life performance but capable of independent living; specialized resources on part time basis indicated MW, YH Grade 2 cognitive disturbance AE CTCAE: E12619 OAE:0004242 a cognitive disturbance AE that has severe cognitive disability; significant impairment of work/school/life performance MW, YH Grade 3 cognitive disturbance AE CTCAE: E12620 OAE:0004243 an abortion AE that results in a retention of dead products of conception in utero for more than 8 weeks. JX, YH WEB: http://medical-dictionary.thefreedictionary.com/missed+abortion 10000230 abortion missed AE OAE:0004244 an edema AE that has an outcome of swelling in the eye. JX, YH 10052139 eye edema AE OAE:0004245 Oral discomfort AE is a discomfort AE that shows an uncomfortable feeling in the oral. JX, YH 口腔不适 10030973 oral discomfort AE OAE:0004246 a female reproductive system AE that has an outcome of the presence of a fluid-filled sac within a patient's ovary. JX, YH WEB: https://en.wikipedia.org/wiki/Ovarian_cyst 10033132 ovarian cyst AE OAE:0004247 a female reproductive system AE that occurs in the placental area. JX, YH WEB: https://en.wikipedia.org/wiki/Placental_disease 10035132 placental disorder AE OAE:0004248 an inflammation AE that occurs at the central nervous system. JX, YH WEB: https://en.wikipedia.org/wiki/Central_nervous_system_disease 中枢神经系统炎症 central nervous system inflammation AE OAE:0004249 a nervous system AE that has outcome of lesion in the area of central nervous system. JX, YH WEB: http://www.emedicinehealth.com/brain_lesions_lesions_on_the_brain/article_em.htm 10051290 central nervous system lesion AE OAE:0004250 a behavioral and neurological AE is characterized by motor coordination problems with daily activities. JX, YH WEB: http://www.healthline.com/symptom/clumsiness 10009696 clumsiness AE OAE:0004251 a behavioral and neurological AE is a deficiency in the ability to write, primarily handwriting, but also coherence. JX, YH WEB: https://en.wikipedia.org/wiki/Dysgraphia 10058319 dysgraphia AE OAE:0004252 a sensory neuropathy AE than is the medical term for a sensation that exactly resembles that of small insects crawling on (or under) the skin. JX, YH WEB: https://en.wikipedia.org/wiki/Formication 10017062 formication AE OAE:0004253 a paresis AE that shows muscle weakness of the entire left or right side of the body. JX, YH WEB: https://en.wikipedia.org/wiki/Hemiparesis 轻偏瘫 10019465 hemiparesis AE OAE:0004254 an immunology and allergy investigation result abnormal AE that results in an increased level of an immunoglobulin. JX, YH WEB: http://www.webmd.com/a-to-z-guides/immunoglobulins immunoglobulin increased AE OAE:0004255 a urinary system AE that shows abnormalities in the process of URINE voiding, including bladder control, frequency of URINATION, as well as the volume and composition of URINE. JX, YH WEB: http://sideeffects.embl.de/se/C0042035/pt 10027561 micturition disorder AE OAE:0004256 a muscle twitch AE that has an outcome of contractions involuntary of muscle. JX, YH 肌肉不自觉收缩 10028293 muscle contractions involuntary AE OAE:0004257 a nervous system AE that describes any neurologic deficit related to the spinal cord. JX, YH WEB: https://en.wikipedia.org/wiki/Myelopathy 脊髓病 10028570 myelopathy AE OAE:0004258 a optic neuritis AE that has outcome of optic neuritis in retrobulbar. JX, YH WEB: https://en.wikipedia.org/wiki/Optic_neuritis 球后视神经炎 10030945 optic neuritis retrobulbar AE OAE:0004259 a eye AE that is an area of partial alteration in the field of vision consisting of a partially diminished or entirely degenerated visual acuity that is surrounded by a field of normal – or relatively well-preserved – vision. JX, YH WEB: https://en.wikipedia.org/wiki/Scotoma 暗点 10039729 scotoma AE OAE:0004260 A thyroiditis AE where the body interprets the thyroid glands and its hormone products T3, T4 and TSH as threats, therefore producing special antibodies that target the thyroid’s cells, thereby destroying it. JX, YH https://en.wikipedia.org/wiki/Autoimmune_thyroiditis 自我免疫性甲状腺炎 10049046 autoimmune thyroiditis AE OAE:0004261 a colitis AE that is a disease that causes inflammation and sores (ulcers) in the lining of the large intestine. JX, YH ulcerative colitis AE WEB: http://www.webmd.com/ibd-crohns-disease/ulcerative-colitis/ulcerative-colitis-topic-overview 溃疡性结肠炎 10009900 colitis ulcerative AE OAE:0004262 an abnormal stool AE that shows pale or clay-colored stool. JX, YH faeces pale AE WEB: http://www.healthline.com/symptom/pale-stools 大便苍白 10016102 feces pale AE OAE:0004263 a tumor AE that is a group of blood cell tumors that develop from lymphatic cells. JX, YH WEB: https://en.wikipedia.org/wiki/Lymphoma 淋巴瘤 10025310 lymphoma AE OAE:0004264 a paresis AE that affects a single limb, usually an arm. JX, YH WEB: https://en.wikipedia.org/wiki/Monoplegia 单肢轻瘫 10027925 monoparesis AE OAE:0004265 a eye AE that refers to weakness (-paresis) or paralysis (-plegia) of one or more extraocular muscles which are responsible for eye movements. JX, YH WEB: https://en.wikipedia.org/wiki/Ophthalmoparesis 眼肌麻痹 10030875 ophthalmoplegia AE OAE:0004266 a eye AE that has outcome of slight differences in pupil size. JX, YH WEB: https://www.nlm.nih.gov/medlineplus/ency/article/003314.htm 瞳孔不等 10037538 pupils unequal AE OAE:0004267 quadriplegia AE is paralysis caused by illness or injury that results in the partial or total loss of use of all four limbs and torso. JX, YH Tetraplegia WEB: https://en.wikipedia.org/wiki/Tetraplegia 四肢麻痹 10037714 quadriplegia AE OAE:0004268 a CSF white blood cell count increased AE with more than the normal number of lymphocytes in cerebrospinal fluid (CSF). JX, YH 脑脊液细胞增多 10035551 pleocytosis AE OAE:0004269 a behavior and neurological AE that shows an decreased preformance JX, YH WEB: https://en.wikipedia.org/wiki/Performance_status 体能下降 10048919 performance status decreased AE OAE:0004270 a skin AS that shows a mass at the skin. JX, YH skin tumor AE 10067868 skin mass AE OAE:0004271 an abnormal stool AE that shows an abnomal color in the feces. JX, YH faeces discoloured AE WEB: http://www.buzzle.com/articles/stool-colors-and-what-they-mean.html 10016100 feces discolored AE OAE:0004272 an investigation result abnormal AE that shows an abnormal ultrasound scan result. JX, YH WEB: http://www.nhs.uk/conditions/ultrasound-scan/Pages/Introduction.aspx 10061606 ultrasound scan abnormal AE OAE:0004273 an injection site AE that shows some substance release from an injection site. JX, YH 10065600 injection site discharge AE OAE:0004274 a tumor AE that has an outcome of the presense of a mass that arises from the axillary. JX, YH WEB: http://www.rightdiagnosis.com/sym/axillary_mass.htm 腋窝肿块 10049021 axillary mass AE OAE:0004275 a behavioral and neurological AE that involves a slowing-down of thought and a reduction of physical movements in an individual. JX, YH motormental retardation AE psychomotor impairment AE WEB: https://en.wikipedia.org/wiki/Psychomotor_retardation 精神运动性阻滞 10037213 psychomotor retardation AE OAE:0004276 an abscess AE that occurs at an injection-site. Note that an abscess is a collection of pus that has built up within a tissue of the body. JX, YH WEB: https://en.wikipedia.org/wiki/Abscess 10022044 injection site abscess AE OAE:0004277 an ulcer AE that occurs at an injection-site. JX, YH WEB: https://en.wikipedia.org/wiki/Ulcer 10022105 injection site ulcer AE OAE:0004278 a viral infection AE that is caused by a disseminated Bacillus Calmette-Guerin bacterial infection. JX, YH disseminated Bacillus Calmette-Guerin infection AE 10069636 disseminated BCG infection AE OAE:0004279 a paresis AE that shows a muscular weakness affecting all four extremities. JX, YH quadriparesis AE WEB: http://www.medilexicon.com/medicaldictionary.php?t=91062 tetraparesis AE OAE:0004280 a menstrual disorder AE that shows an extremely light menstrual blood flow QL, YH hypomenorrhoea AE WEB: https://en.wikipedia.org/wiki/Hypomenorrhea 月经减少 10021032 hypomenorrhea AE OAE:0004281 a menstrual disorder AE that shows a menstrual period with abnormally heavy flow and falls under the larger category of abnormal uterine bleeding (AUB) QL, YH hypermenorrhea AE WEB: https://en.wikipedia.org/wiki/Menorrhagia menorrhagia AE OAE:0004282 a male reproductive system AE in which spermatozoa in seminal fluid are dead or motionless QL, YH WEB: https://en.wikipedia.org/wiki/Necrospermia 死精 10074729 necrospermia AE MP: MP_0009325 OAE:0004283 a reproductive system AE that results in diminished ability to produce live offspring JX, LW, YH WEB: https://en.wikipedia.org/wiki/Infertility 生育能力下降 10042391 subfertility AE MP: MP_0001921 OAE:0004284 a reproductive system AE that results in an inability to conceive for at least one year after trying and having unprotected sex. QL, YH WEB: http://www.mayoclinic.org/diseases-conditions/infertility/basics/definition/con-20034770 不孕不育 10021926 infertility AE MP: MP_0001921 OAE:0004285 an endocrine investigation result abnormal AE that is characterized by a lower than normal level of estrogen, the primary sex hormone in women QL, YH estrogen deficiency AE hypoestrogenism AE WEB: http://www.md-health.com/Low-Estrogen.html WEB: https://en.wikipedia.org/wiki/Hypoestrogenism 性激素水平下降 10015519 low estrogen level AE OAE:0004286 a hemorrhage AE that occurs at the uterus, but it is not related to menstruation. The irregular and unpredictable bleeding usually comes from a dysfunctional endometrium. QL, YH WEB: http://emedicine.medscape.com/article/257007-overview 功能性子宫出血 10013908 dysfunctional uterine bleeding AE MESH: D008796 OAE:0004287 a testicular disorder AE that has a loss of testicular volume QL, YH WEB: https://en.wikipedia.org/wiki/Testicular_atrophy 睾丸萎缩 10043298 testicular atrophy AE OAE:0004288 an aplastic anemia AE that results in the suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production. QL, YH PRCA AE red-cell aplasia, pure WEB: http://emedicine.medscape.com/article/205695-overview 纯红再障性贫血 pure red cell aplasia AE MESH: D012010 OAE:0004289 a paralysis AE that shows an impairment in motor or sensory function of the lower extremities. YH, JX WEB: https://en.wikipedia.org/wiki/Paraplegia 10033892 paraplegia AE OAE:0004290 a cutaneous vasculitis AE that results in inflammation of small blood vessels, characterized clinically by palpable purpura, which is a slightly elevated purpuric rash over one or more areas of the kin. QL, YH WEB: https://www.nlm.nih.gov/medlineplus/ency/article/000874.htm 皮肤变应性血管炎 allergic cutaneous vasculitis AE DO: DOID_11450 OAE:0004291 a skin hyperpigmentation AE that shows the occurrence of pigmented patches on the tongue and buccal mucousmembranes. QL, YH WEB: http://www.medilexicon.com/medicaldictionary.php?t=53725 皮肤黑斑病 melanoplakia AE SNOMEDCT: 84647002 OAE:0004292 an erythema AE that showns an erythematous eruption characterized by inflammatory nodules that are usually tender, multiple, and bilateral. Such a symptom is commonly associated with drug reactions or infection. QL, YH erythemanodosum AE WEB: https://en.wikipedia.org/wiki/Erythema_nodosum 结节性红斑 10015226 erythema nodosum AE HPO: HP_0012219 MeSH: D004893 OAE:0004293 a muscle spasm AE that occurs when the contraction of a spasm is sustained or continuing. Such a spasm is generally severe because is is often caused by diseases that affect the central nervous system or brain, such as tetanus, rabies, and cerebral palsy. QL, YH WEB: http://medical-dictionary.thefreedictionary.com/tonic+spasm 强直性痉挛 tonic spasm AE OAE:0004294 a menstrual disorder AE that results in frequent menses amd the menstrual cycles lasting less than 21 days. QL, YH 月经频繁 10070501 polymenorrhea AE HP: HP_0400007 OAE:0004295 a menstrual disorder AE that shows an outcome of a shortened time of menstrual period QL, YH short menstrual period AE WEB: http://www.everydayhealth.com/pms/short-periods.aspx 经期缩短 shortened menstrual period AE OAE:0004296 a menstrual disorder AE that shows an outcome of a prolonged duration of menstrual period QL, YH prolonged menstruation AE WEB: http://www.healthline.com/symptom/menstrual-irregularity 经期延长 prolonged menstrual period AE OAE:0004297 musculoskeletal stiffness AE that occurs at the neck and is typically characterized by soreness and difficulty moving the neck, especially when trying to turn the head to the side. QL, YH stiff neck AE WEB: http://www.spine-health.com/conditions/neck-pain/stiff-neck-causes-symptoms-and-treatment 颈项强直 10028843 neck stiffness AE stiffness of the neck AE OAE:0004298 a female reproductive system AE that occurs at the ovaries where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40. QL, YH primary ovarian insufficiency AE WEB: http://www.mayoclinic.org/diseases-conditions/premature-ovarian-failure/basics/definition/con-20028351 WEB: https://www.nlm.nih.gov/medlineplus/prematureovarianfailure.html 卵巢早衰 premature ovarian failure AE DO: DOID_5426 OAE:0004299 a skin adverse event that has an outcome of a discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed. QL, YH 10040840 skin erosion AE HP: HP_0200041 OAE:0004300 a hematopoietic system AE that has an outcome of an arrest of the formation of blood cellular components. QL, YH WEB: https://en.wikipedia.org/wiki/Haematopoiesis 造血功能障碍 arrest of hematopoiesis AE OAE:0004301 an arrest of hematopoiesis AE that occurs quickly QL, YH WEB: https://en.wikipedia.org/wiki/Haematopoiesis 急性造血功能障碍 acute arrest of hematopoiesis AE OAE:0004302 an ulcer AE that occurs at the scrotum QL, YH 阴囊破溃 scrotum ulcer AE SNOMEDCT: 9750001 OAE:0004303 a skin adverse event that inherited chronic noninflammatory skin disease manifested by vesicles, large bullae (blisters), and skin erosions which often result from trauma. QL, YH epidermolysis bullosa type eruption AE WEB: http://www.mayoclinic.org/diseases-conditions/epidermolysis-bullosa/basics/definition/con-20032497 大疱性表皮坏死松解症 10014989 epidermolysis bullosa AE OAE:0004304 a female reproductive system AE that occurs in the uterus JX, YH WEB: https://en.wikipedia.org/wiki/Uterus uterine AE OAE:0004305 a reproduction system inflammation AE that occurs in the endometrium, the inner lining of the uterus. MW, YH WEB: https://en.wikipedia.org/wiki/Endometritis 子宫内膜炎 10014791 endometritis AE OAE:0004306 an inflammation AE which occurs in the female reproduction system YH, JX female reproduction system inflammation AE OAE:0004307 a reproduction system inflammation AE that occurs in the placenta. JX, YH WEB: https://en.wikipedia.org/wiki/Placenta 胎盘炎 10014791 placentitis AE OAE:0004308 a female reproductive system AE that occurs when the baby does not exit the pelvis during childbirth due to being physically blocked, even though the uterus is contracting normally. JX, YH obstructed labor AE obstructed labour AE WEB: https://en.wikipedia.org/wiki/Obstructed_labour 难产 dystocia AE OAE:0004309 a pneumonia AE that is caused by a mycotic infection JX, YH WEB: https://en.wikipedia.org/wiki/Fungal_pneumonia 真菌性肺炎 mycotic pneumonia AE OAE:0004310 an inflammation AE that refers to inflammation of the serous tissues of the body, the tissues lining the lungs (pleura), heart (pericardium), and the inner lining of the abdomen (peritoneum) and organs within. JX, YH WEB: https://en.wikipedia.org/wiki/Serositis 浆膜炎 10058556 serositis AE OAE:0004311 a female reproduction system inflammation AE that occurs in the wall of the uterus. JX, YH WEB: https://en.wikipedia.org/wiki/Metritis 子宫炎 10066270 metritis AE OAE:0004312 an abscess AE where the abscess is filled with pus. Note: based on the website: https://www.quora.com/What-is-a-purulent-abscess, it appears that the words purulent abscess are actually redundant. Purulent means pus. Abscess is a space or pocket in the body filled with pus. JX, YH 化脓性脓肿 purulent abscess AE OAE:0004313 a clostridial infection AE that results in muscle spasms. JX, YH lockjaw AE WEB: https://en.wikipedia.org/wiki/Tetanus 破伤风 10043376 tetanus AE OAE:0004314 a abscess AE that shows a collection of pus found near the rectum. JX, YH WEB: http://www.webmd.com/a-to-z-guides/anal-abscess 直肠脓肿 10048947 rectal abscess AE OAE:0004315 a brucellosis AE that shows an acute disease stage. JX, YH WEB: https://en.wikipedia.org/wiki/Brucellosis 急性布氏杆菌病 acute brucellosis AE OAE:0004316 a lymphadenopathy AE where the lymphadenopathy occurs in the supraclavicular lymph nodes. JX, YH WEB: https://en.wikipedia.org/wiki/Lymphadenopathy 锁骨上淋巴结病 supraclavicular lymphadenopathy AE OAE:0004317 a pain AE that shows a person with generalized aches and pains in multiple areas of the body. JX, YH WEB: http://www.everydayhealth.com/symptom-checker/body-aches 体痛 body ache AE OAE:0004318 an inflammation AE that occurs in the kidney tissue, calyces, and renal pelvis. JX, YH WEB: https://en.wikipedia.org/wiki/Pyelonephritis 肾盂肾炎 10037596 pyelonephritis AE OAE:0004319 a bacterial infection AE that is caused by the infection with Brucella, a Gram-negative bacterium. The infected animals can be human or a variety of mammal animals. JX, YH Bang's disease AE Crimean fever AE Gibraltar fever AE Malta fever AE Maltese fever AE Mediterranean fever AE rock fever AE undulant fever AE WEB: https://en.wikipedia.org/wiki/Brucellosis 布氏杆菌病 brucellosis AE OAE:0004320 an infection AE that is caused by a parasite. YH, JX WEB: https://en.wikipedia.org/wiki/Parasitic_disease parasitic infection AE OAE:0004321 a parasitic infection AE that is caused by a heminth, i.e., a parasitic worm, in the location of intestine. JX, YH WEB: https://en.wikipedia.org/wiki/Helminthiasis 肠道蠕虫病 intestinal helminthiasis AE OAE:0004322 a liver AE that has an outcome of the diffusion or accumulation of substances in the liver. JX, YH PubMed: http://www.ncbi.nlm.nih.gov/pubmed/20806348 WEB: https://en.wikipedia.org/wiki/Infiltration_(medical) 肝脏浸润 liver infiltration AE OAE:0004323 an epididymitis AE where the epidiymis is filled up with lymphocytes and plasma cells. JX, YH WEB: http://www.merriam-webster.com/medical/lymphoplasmacytic WEB: https://en.wikipedia.org/wiki/Epididymitis 淋巴浆细胞性附睾炎 lymphoplasmacytic epididymitis AE OAE:0004324 a testicular disorder AE that results in a discomfort or pain of the epidiymis, a curved structure at the back of the testicle in which sperm matures and is stored. JX, YH WEB: https://en.wikipedia.org/wiki/Epididymitis epididymitis AE OAE:0004325 a pneumonia AE that results in the dissemination of histiocytes in the lung. JX, YH PubMed: http://www.ncbi.nlm.nih.gov/pubmed/17882900 WEB: https://en.wikipedia.org/wiki/Pneumonia 弥漫性组织细胞性肺炎 disseminated histiocytic pneumonia AE OAE:0004326 a myocarditis AE where the heart muscle is filled with lymphocytes and plasma cells that are not normally seen. JX, YH WEB: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001204/ 淋巴浆细胞性心肌炎 lymphoplasmacytic myocarditis AE OAE:0004327 a syndrome AE in which the immune system begins to recover from an immunosuppression or AIDS, but then responds to a previously acquired opportunistic infection with an overwhelming inflammatory response that paradoxically makes the symptoms of infection worse. JX, YH IRIS AE immune recovery syndrome AE WEB: https://en.wikipedia.org/wiki/Immune_reconstitution_inflammatory_syndrome 10065042 immune reconstitution inflammatory syndrome AE OAE:0004329 a diarrhea AE that occurs when the bile acids are not reabsorbed into the bloodstream and enter the large bowel (colon), which causes abnormally high levels of water and salts in the large bowel and the formation of watery diarrhoea. YH bile acid malabsorption AE WEB: http://patient.info/health/bile-acid-malabsorptiondiarrhoea-leaflet WEB: https://en.wikipedia.org/wiki/Bile_acid_malabsorption WEB: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3002596/ 10069703 bile acid diarrhoea AE OAE:0004330 an adverse event that has an outcome of nutrition disorder, which can be caused by an insufficient intake of food or of certain nutrients, by an inability of the body to absorb and use nutrients, or by overconsumption of certain foods. YH nutrition disorder AE WEB: http://www.who.int/topics/nutrition_disorders/en/ 营养失调 nutritional disorder AE OAE:0004331 a nutrional disorder AE that has an outcome of malnutrition, a condition resulting from insufficient nutrients in the body. YH WEB: https://medlineplus.gov/ency/article/000404.htm 营养不良 malnutrition AE OAE:0004332 a gastrointestinal disorder AE that has an outcome of the presence of very large numbers of bacteria growing in the small intestine YH BLS AE BOS AE SIBO AE bacterial overgrowth syndrome AE blind loop syndrome AE small bowel bacterial overgrowth AE WEB: https://en.wikipedia.org/wiki/Blind_loop_syndrome WEB: https://medlineplus.gov/ency/article/000222.htm small intestinal bacterial overgrowth AE OAE:0004333 an edema face AE where the face has gradually swollen into a rounded shape YH WEB: http://www.webmd.com/a-to-z-guides/moon-facies moon face AE OAE:0004335 a behavioral and neurological AE that has an outcome of impaired daily self care activities. KY, YH ADL impaired AE WEB: https://en.wikipedia.org/wiki/Activities_of_daily_living 10050954 activities of daily living impaired AE OAE:0004336 a hematology investigation result abnormal AE that is characterized by an abnomalty in the antibody level in the blood YH, KY antibody test abnormal AE OAE:0004337 an antibody test abnormal AE that shows positive antinuclear antibody, which often attack a person's own cell nucleus. YH, KY ANA test abnormal AE URL: http://www.mayoclinic.org/tests-procedures/ana-test/basics/definition/prc-20014566 In most cases, a positive ANA test indicates that your immune system has launched a misdirected attack on your own tissue — in other words, an autoimmune reaction. But some people have positive ANA tests even when they're healthy. Ref: http://www.mayoclinic.org/tests-procedures/ana-test/basics/definition/prc-20014566 antinuclear antibody positive AE OAE:0004338 A nervous system AE which refers to an imbalance problem in the part of the nervous system that controls involuntary actions KY, YH https://medlineplus.gov/autonomicnervoussystemdisorders.html#cat59 10003840 autonomic nervous system imbalance AE OAE:0004339 A CSF test result abnormal AE with high glucose levels in the cerebrospinal fluid. KY, YH https://en.wikipedia.org/wiki/CSF_glucose 10050763 CSF glucose increased AE OAE:0004340 A CSF test result abnormal AE with high immunoglobin levels in the cerebrospinal fluid. KY, YH https://labtestsonline.org/understanding/conditions/multiplesclerosis/start/2/ 10064338 CSF immunoglobulin increased AE OAE:0004341 A palsy AE with temporary or permanent weakness of the facial muscles on one or both sides of the face. KY, YH http://www.facialpalsy.org.uk/about-facial-palsy/what-is-facial-palsy/1395/ 10016060 facial palsy AE OAE:0004342 A bone AE that refers to structural failure in a disc and advanced signs of aging. KY, YH https://www.ncbi.nlm.nih.gov/pubmed/16915105 10061246 intervertebral disc degeneration AE OAE:0004343 A behavioral and neurological test abnormal AE result that has an abnormal outcome in lumbar puncture involving pain or numbness to the legs, lower back pain, headaches, risk of infection, or risk of bleeding in the spinal canal. KY, YH http://www.hopkinsmedicine.org/healthlibrary/test_procedures/neurological/lumbar_puncture_lp_92,p07666/ 10025000 lumbar puncture abnormal AE OAE:0004344 A paralysis AE accompanied by involuntary tremors. KY, YH WEB: https://en.oxforddictionaries.com/definition/palsy WEB: https://en.wikipedia.org/wiki/Palsy 麻痹 palsy AE OAE:0004345 A behavioral and neurological test abnormal AE that involves an abnormal outcome in the series of simple questions and noninvasive tests in a neurological examination that provides crucial information about the nervous system. KY, YH http://www.healthcommunities.com/brain-nerve-tests/what-is-a-neuro-exam.shtml 10056832 neurological examination abnormal AE OAE:0004346 A paralysis AE characterized by extreme muscle weakness and loss of muscle tone. KY, YH http://www.brainandspinalcord.org/flaccid-paralysis/ 弛缓性麻痹 10033809 paralysis flaccid AE OAE:0004347 A paralysis AE on the peroneal nerve leading to loss of movement or sensation on the foot and leg and may lead to complete weakness or paralysis of the foot or leg. KY, YH https://medlineplus.gov/ency/article/000791.htm 10034701 peroneal nerve palsy AE OAE:0004348 A hyperaesthesia AE that occurs at the optic area, reflected by an abnormal sensitivity to light. YH, Jiahao Wang WEB: http://medical-dictionary.thefreedictionary.com/optic+hyperesthesia 光过敏 optic hyperesthesia AE OAE:0004349 An abnormal respiration AE that shows a severely deficient supply of oxygen to the body that arises from abnormal breathing. YH, Jiahao Wang asphyxiation AE WEB: https://en.wikipedia.org/wiki/Asphyxia 窒息 10003497 10003502 asphyxia AE OAE:0004350 An muscle AE showing delayed relaxation (prolonged contraction) of the skeletal muscles after voluntary contraction or electrical stimulation YH, Jiahao Wang WEB: https://en.wikipedia.org/wiki/Myotonia 肌强直 10061533 myotonia AE OAE:0004351 An myotonia AE that occurs in the neck. YH, Jiahao Wang WEB: https://en.wikipedia.org/wiki/Myotonia 颈项强直 neck myotonia AE OAE:0004352 a behavioral and neurological AE that refers to any pain or discomfort in the abdomen. NG, YH https://en.wikipedia.org/wiki/Distress_(medicine) 10000062 abdominal distress AE OAE:0004353 A blindness AE that refers to the reduced ability to distinguish between colors that are obvious to the rest of the population NG, YH https://en.wikipedia.org/wiki/Color_blindness 10010016 color blindness AE OAE:0004354 a behavioral and neurological AE that is characterized by involuntary muscle contractions that cause abnormal posture and slow, repetitive movements NG, YH http://www.webmd.com/brain/dystonia-causes-types-symptoms-and-treatments#1 10013983 dystonia AE OAE:0004355 a behavioral and neurological AE that is characterized by potentially impulsive or poorly controlled activity NG, YH 10015627 exciteness AE OAE:0004356 a dizziness AE that creates a feeling of a light head caused by a temporary decrease in blood to the brain NG, YH https://en.wikipedia.org/wiki/Lightheadedness 10024492 lightheadedness AE OAE:0004357 a psychiatric disorder AE that is characterized by an elevation or lowering of a person's mood NG, YH mood problem https://en.wikipedia.org/wiki/Mood_disorder 10027952 mood disorder AE OAE:0004358 a menstrual disorder AE that is characterized by infrequent menstrual periods NG, YH https://en.wikipedia.org/wiki/Oligomenorrhea 10030294 oligomenorrhea AE OAE:0004359 an ear AE that refers to ear poisoning resulting from exposure to drugs or chemicals that damage the inner ear NG, YH https://en.wikipedia.org/wiki/Ototoxicity 10033109 ototoxicity AE OAE:0004360 an inflammation AE that leads to swelling around the blood vessel wall NG, YH http://medical-dictionary.thefreedictionary.com/periarteritis 10034462 periarteritis AE OAE:0004361 a tumor AE that is benign and characterized by a small wart-like growth on the skin NG, YH https://en.wikipedia.org/wiki/Papilloma 10033722 skin papilloma AE OAE:0004362 a paresthesia AE characterized by unusual prickling sensations in any part of the body NG, YH http://www.mayoclinic.org/symptom-checker/numbness-or-tingling-in-hands-adult/related-factors/itt-20009075 10043876 tingling AE OAE:0004363 a diarrhea AE that has 4 stools per day over baseline; mild increase in ostomy output compared to baseline. MW, EO Grade 1 diarrhea AE CTCAE: E10573 OAE:0004364 a diarrhea AE that has increased of 4 - 6 stools per day over baseline; moderate increase in ostomy output compared to baseline. MW, EO Grade 2 diarrhea AE CTCAE: E10574 OAE:0004365 a diarrhea AE that has increased of >=7 stools per day over baseline; incontinence; hospitalization indicated; severe increase in ostomy output compared to baseline; limiting self care ADL MW, EO Grade 3 diarrhea AE CTCAE: E10575 OAE:0004366 An epileptic seizure AE that is a complex autosomal dominant disorder usually caused by mutations in SCN1A (a voltage-gated sodium channel). One third of patients have febrile seizures only; two thirds have a variety of epilepsy syndromes, both focal and generalized. GEFS+ AE https://www.ncbi.nlm.nih.gov/pubmed/25917466 BY, YH genetic epilepsy with febrile seizures plus AE OAE:0004367 MW, EO a nausea AE that has Loss of appetite without alteration in eating habits Grade 1 nausea AE CTCAE: E10879 OAE:0004368 MW, EO a nausea AE that has oral intake decreased without significant weight loss, dehydration or malnutrition Grade 2 nausea AE CTCAE: E10880 OAE:0004369 MW, EO a nausea AE that has inadequate oral caloric or fluid intake; tube feeding, TPN, or hospitalization indicated Grade 3 nausea AE CTCAE: E10881 OAE:0004370 A bacterial infection AE that is induced by the bacterium Bordetella pertussis, which causes an acute respiratory infection marked by severe, spasmodic coughing episodes during the paroxysmal phase. https://www.ncbi.nlm.nih.gov/books/NBK7813/ BY, YH Bordetella pertussis infection AE OAE:0004371 A thyroiditis AE that is caused by an infection with a pathogen (e.g., bacterium or virus). YH https://en.wikipedia.org/wiki/Thyroiditis 10071250 infectious thyroiditis AE OAE:0004373 A neurotoxicity that occurs at the central nervous system. This type of neurotoxity manifests as altered thought content resulting in psychosis or confusion. BY, YH https://www.ncbi.nlm.nih.gov/pubmed/24275175 10071215 central nervous system toxicity AE OAE:0004374 A paralysis AE that results from infection with any one of the three related poliovirus types (referred to as types P1, P2, and P3) and that attacks the body's nervous system. infantile paralysis AE polio AE http://www.who.int/biologicals/areas/vaccines/polio/en/ 10036012 BY, YH poliomyelitis AE OAE:0004375 An immune system AE where a transplant recipient's immune system attacks the transplanted organ or tissue. transplant rejection AE https://medlineplus.gov/ency/article/000815.htm 10018650 BY, YH graft rejection AE OAE:0004376 A vasculitis AE that affects medium-sized and small muscular arteries, resulting in microaneurysm formation, aneurysmal rupture with hemorrhage, thrombosis, and, consequently, organ ischemia or infarction. panarteritis nodosa AE polyarteritis nodosa AE http://emedicine.medscape.com/article/330717-overview 10034462 BY, YH periarteritis nodosa AE OAE:0004377 An abnormal reflex AE characterized by episodes of shaking or exaggerated shivering which can occur with a high fever. http://patient.info/doctor/rigors 10039177 BY, YH rigors AE OAE:0004378 An immunology AE in which cells of the lymphatic system grow excessively. It is a AE of the lymphoid cells and of cells from the reticuloendothelial system that usually occur in people with compromised immune systems. http://www.medicinenet.com/script/main/art.asp?articlekey=7859 10061232 BY. YH lymphoproliferative disorder AE OAE:0004379 A rash AE where the rash is present on only one area of the body, which is usually caused by cellulitis, contat dermatitis, and poison ivy. http://www.everydayhealth.com/symptom-checker/localized-rash 10062705 BY, YH localized rash AE OAE:0004380 A neuropathy AE that is characterized by recurrent episodes of numbness, tingling, and loss of muscle function in the region associated with the affected nerve, usually an arm, hand, leg, or foot. HNPP AE https://ghr.nlm.nih.gov/condition/hereditary-neuropathy-with-liability-to-pressure-palsies 10069382 BY, YH hereditary neuropathy with liability to pressure palsies AE OAE:0004381 A viral infection AE that is caused by a Rubella virus. This contagious AE leads to symptoms that can include a low-grade fever, sore throat, and a red rash that starts on the face and spreads to the rest of the body. german measles AE three-day measles AE http://bodyandhealth.canada.com/channel/childhood-vaccinations/related-conditions/rubella 10018206 BY, YH Rubella infection AE OAE:0004382 A poliomyelitis AE that is associated with oral poliovirus vaccine (OPV) that occurs among healthy OPV recipients and their contacts. It is clinically indistinguishable from poliomyelitis caused by wild-type polio virus, which causes temporary or permanent paralysis. VAPP AE https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3321898/ 10076716 BY, YH vaccine-associated paralytic poliomyelitis AE OAE:0004383 A seizure AE that is a rare, catastrophic, lifelong form of epilepsy that begins in the first year of life with frequent and/or prolonged seizures. SMEI AE dravet syndrome AE https://www.dravetfoundation.org/what-is-dravet-syndrome/ 10073677 BY, YH severe myoclonic epilepsy of infancy AE OAE:0004384 A bacterial infection AE that is caused by exposure to environmental sources of nontuberculous mycobacteria (NTM), which leads to NTM entering the lungs, causing inflammation in the respiratory system. This AE can lead to progressive lung infection characterized by cough, shortness of breath, fatigue, and weight loss. NTM infection AE http://www.lung.org/lung-health-and-diseases/lung-disease-lookup/nontuberculosis-mycobacteria/learn-about-ntm.html BY. YH nontuberculous mycobacteria infection AE OAE:0004385 An immunodeficiency AE that affects the immune system and results in the lack of the ability for the body to generate mature B cells, which manifests as a complete or near-complete lack of proteins called gamma globulins, including antibodies, in their bloodstream. This AE occurs almost exclusively in males. This AE also increases susceptibility to infections. Bruton’s Agammaglobulinemia AE Congenital Agammaglobulinemia AE XLA AE http://primaryimmune.org/about-primary-immunodeficiencies/specific-disease-types/agammaglobulinemia-x-linked-autosomal-recessive/ https://en.wikipedia.org/wiki/X-linked_agammaglobulinemia https://ghr.nlm.nih.gov/condition/x-linked-agammaglobulinemia BY. YH X-linked agammaglobulinemia AE OAE:0004386 A multi-organ failure AE that is associated with administration of a Yellow Fever vaccine. This happens when vaccine virus proliferates in multiple organs, causing multiple organ dysfunction syndrome or multiorgan failure and death. https://www.cdc.gov/travel-training/local/HistoryEpidemiologyandVaccination/page27412.html 10069197 BY, YH Yellow Fever vaccine-associated viscerotropic disease AE OAE:0004387 A duodenal ulcer AE that alters GI function and requiresTPN indicated; elective operative or endoscopic intervention indicated; limiting self care ADL. Grade 3 duodenal ulcer AE CTCAE: E10614 OAE:0004388 An anus AE that bleed from the anal region. 10055226 anal hemorrhage AE CTCAE: E10470 NCIt: C78168 OAE:0004389 An anal hemorrhage AE that has moderate symptoms; medical intervention or minor cauterization indicated. Grade 2 anal hemorrhage AE CTCAE: E10472 OAE:0004390 A thyroiditis AE where the thyroiditis inflammation has an acute process. YH https://en.wikipedia.org/wiki/Thyroiditis 10043780 acute thyroiditis AE OAE:0004391 An anal hemorrhage AE that has transfusion, radiologic, endoscopic, or elective operative intervention indicated. Grade 3 anal hemorrhage AE CTCAE: E10473 OAE:0004392 A gastrointestinal disorder AE that has a narrowing of the lumen of the colon. 10010004 colonic stenosis AE CTCAE: E10550 NCIt: C78243 OAE:0004393 A colonic stenosis AE that altered GI function. Grade 2 colonic stenosis AE CTCAE: E10552 OAE:0004394 A colonic stenosis AE that alters GI function and requires tube feeding or hospitalization. Grade 3 colonic stenosis AE CTCAE: E10553 OAE:0004395 An esophagus AE that has a rupture in the wall of the esophagus. 10055472 esophageal perforation AE CTCAE: E10665 NCIt: C50693 OAE:0004396 A mucosal inflammation AE that has moderate pain which is not interfering with oral intake but modified diet indicated. Grade 2 mucosal inflammation AE CTCAE: E10874 OAE:0004397 A mucosal inflammation AE that is interfering with oral intake. Grade 3 mucosal inflammation AE CTCAE: E10875 OAE:0004398 A dysesthesia AE that has burning or tingling sensation on the lips, tongue or entire mouth. 10054520 oral dysesthesia AE CTCAE: E10894 NCIt: C62545 OAE:0004399 An oral dysesthesia AE that has disabling pain, requires tube feeding and TPN. Grade 3 Oral dysesthesia AE CTCAE: E10897 OAE:0004400 An oral dysesthesia AE that has m oderate pain and is interfering with oral intake. Grade 2 Oral dysesthesia AE CTCAE: E10896 OAE:0004401 An oral dysesthesia AE that has mild discomfort but is not interfering with oral intake. Grade 1 Oral dysesthesia AE CTCAE: E10895 OAE:0004402 A periodontal disease AE that has spontaneous bleeding, severe bone loss with or without tooth loss and osteonecrosis of maxilla or mandible. Grade 3 periodontal disease AE CTCAE: E10938 OAE:0004403 A periodontal disease AE that has moderate gingival recession or gingivitis, multiple sites of bleeding on probing and moderate bone loss. Grade 2 periodontal disease AE CTCAE: E10937 OAE:0004404 A periodontal disease AE that has gingival recession or gingivitis, limited bleeding on probing and mild local bone loss. Grade 1 periodontal disease AE CTCAE: E10936 OAE:0004405 A necrosis AE that there the ecrotic process occurring in the rectal wall. 10065709 rectal necrosis AE CTCAE: E10967 NCIt: C78585 OAE:0004406 A rectal necrosis AE that requires tube feeding or TPN indicated; radiologic, endoscopic, or operative intervention indicated. Grade 3 rectal necrosis AE CTCAE: E10968 OAE:0004407 An inflammation AE that has inflammation of the salivary duct. 10056681 salivary duct inflammation AE CTCAE: E10470 NCIt: C78600 OAE:0004408 A salivary duct inflammation AE that has acute salivary gland necrosis; severe secretion-induced symptoms (e.g., thick saliva/oral secretions or gagging); tube feeding or TPN indicated; limiting self care ADL; disabling Grade 3 salivary duct inflammation AE CTCAE: E11006 OAE:0004409 A salivary duct inflammation AE that has thick, ropy, sticky saliva; markedly altered taste; alteration in diet indicated; secretion-induced symptoms; limiting instrumental ADL Grade 2 salivary duct inflammation AE CTCAE: E11005 OAE:0004410 A salivary duct inflammation AE that has slightly thickened saliva; slightly altered taste (e.g., metallic) Grade 1 salivary duct inflammation AE CTCAE: E11004 OAE:0004411 An inflammation AE that has inflammation of the mucous membrane of the small intestine. 10065710 small intestinal mucositis AE CTCAE: E11015 NCIt: C78613 OAE:0004412 A small intestinal mucositis AE that has severe pain and is interfering with oral intake; tube feeding, TPN or hospitalization indicated. Grade 3 small intestinal mucositis AE CTCAE: E11018 OAE:0004413 A small intestine ulcer AE that has altered GI function, requires TPN indicated. Elective operative or endoscopic intervention indicated; limiting self care ADL; disablingoperative intervention Grade 3 small intestine ulcer AE CTCAE: E11041 OAE:0004414 A small intestine ulcer AE that has altered GI function. Grade 2 small intestine ulcer AE CTCAE: E11040 OAE:0004415 A tooth disorder AE that has a pathological process of the teeth occurring during tooth development. 10044030 tooth development disorder AE CTCAE: E11048 NCIt: C35596 OAE:0004416 A tooth development disorder AE that has maldevelopment with impairment not surgically correctable. Grade 3 tooth development disorder AE CTCAE: E11051 OAE:0004417 A tooth development disorder AE that has impairment correctable with oral surgery Grade 2 tooth development disorder AE CTCAE: E11050 OAE:0004418 A tooth development disorder AE that has hypoplasia of tooth or enamel. Grade 1 tooth development disorder AE CTCAE: E11049 OAE:0004419 A digestive system AE that has abdominal pain, fever, change in bowel habits with ileus and peritoneal signs. Grade 3 cecitis AE CTCAE: E11059 OAE:0004420 A thyroiditis AE where the thyroiditis inflammation has a chronic process. YH https://en.wikipedia.org/wiki/Thyroiditis 10043781 chronic thyroiditis AE OAE:0004421 A chronic thyroiditis AE that shows a lot of dense fibrous tissue. YH Riedel goiter AE Riedel's thyroiditis AE chronic sclerosing thyroiditis AE chronic thyroiditis wood AE fibrous chronic thyroiditis AE invasive fibrous thyroiditis AE http://www.healthfrom.com/Disease/view-3435.html 10043782 chronic fibrous thyroiditis AE OAE:0004424 An acute thyroiditis AE that shows a form of painful, acute thyroiditis resulting from radioactive therapy to treat hyperthyroidism or from radiation to treat head and neck cancer or lymphoma. YH https://en.wikipedia.org/wiki/Radiation-induced_thyroiditis 10063885 radition thyroiditis AE OAE:0004425 An autoimmune thyroiditis AE where the thyroid gland is gradually destroyed. JX, YH Hashimoto's disease AE chronic lymphocytic thyroiditis AE https://en.wikipedia.org/wiki/Autoimmune_thyroiditis 10069432 Hashimoto's thyroiditis AE OAE:0004426 An autoimmune thyroiditis AE that shows an organ-specific autoimmune disease characterized by thyroid autoantibodies, functional hypothyroidism, and absence of goiter. YH https://link.springer.com/chapter/10.1007%2F978-1-60327-285-8_42 10077172 atrophic thyroiditis AE OAE:0004427 A thyroiditis AE that occurs after pregnancy and may involve hyperthyroidism, hypothyroidism or the two sequentially. YH https://en.wikipedia.org/wiki/Postpartum_thyroiditis postpartum thyroiditis AE OAE:0004428 An adverse event of hematoma in the subcapsular space of the kidney. This event occurs after a medical intervention, and may be caused by a tumor, trauma, vasculitis, renal infarction, or other disease process. YH, EO https://medical-dictionary.thefreedictionary.com/subcapsular+hematoma subcapsular hematoma subcapsular hematoma AE OAE:0004429 An adverse event of hematoma occurring around the kidney. YH, EO perinephric hematoma perinephric hematoma AE OAE:0004430 YH, EO arteriovenous fistulae arteriovenous fistula arteriovenous fistula AE OAE:0004431 An adverse event of surgery that leads to the puncturing of an adjacent organ. For example, a needle to the kidney may puncture the adjacent organs. Jennifer Schaub, Oliver He puncturing of adjacent organs https://www.ncbi.nlm.nih.gov/books/NBK493205/ puncturing of adjacent organ AE OAE:0004432 A renal failure AE that is characterized by abnormally high levels of nitrogen-containing compounds (such as urea, creatinine, various body waste compounds, and other nitrogen-rich compounds) in the blood. David Ameriguian, Oliver He https://en.wikipedia.org/wiki/Azotemia 10003885 azotaemia AE OAE:0004433 An adverse event with the IgA nephropathy, a form of glomerulonephritis (an inflammation of the glomeruli of the kidney), primarily characterized by deposition of the IgA antibody in the glomerulus. YH Berger's disease IgA nephritis IgAN synpharyngitic glomerulonephritis https://en.wikipedia.org/wiki/IgA_nephropathy IgA nephropathy AE OAE:0004434 An adverse event with the IgM nephropathy, a form of glomerulonephritis (an inflammation of the glomeruli of the kidney), primarily characterized by deposition of the IgM antibody in the glomerulus. YH https://nephcure.org/livingwithkidneydisease/understanding-glomerular-disease/other-glomerular-diseases/igm-nephropathy/ IgM nephropathy AE OAE:0004435 A urine abnormality AE that is characterized by dark colored urine resulting from abormally high blood levels of conjugated bilirubin. David Ameriguian, Oliver He https://meded.ucsd.edu/clinicalimg/genital_urine_bili.htm 10004710 bilirubinuria AE OAE:0004436 A bladder cancer AE that is characterized by a benign or malignant, primary or metastatic neoplasm of the bladder. David Ameriguian, Oliver He https://www.ncbi.nlm.nih.gov/medgen/594 10005056 bladder neoplasm AE OAE:0004437 A urine abnormality AE that is characterized by the presence of bile in urine. David Ameriguian, Oliver He https://en.wikipedia.org/wiki/Choluria 10008684 choluria AE OAE:0004438 A urine abnormality AE that is characterized by when one passes blood sugar (blood glucose) into urine. David Ameriguian, Oliver He https://www.healthline.com/healthy/glycosuria 10018473 glycosuria AE OAE:0004439 A urine abnormality AE that is characterized by an abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine. David Ameriguian, Oliver He https://www.ncbi.nlm.nih.gov/publications/dictionaries/cancer-terms/def/hydroureter 10021096 hyposthenuria AE OAE:0004440 A urine abnormality AE that is characterized by a medical condition in which ketone bodies are present in the urine. David Ameriguian, Oliver He https://en.wikipedia.org/wiki/Ketonuria 10023388 ketonuria AE OAE:0004441 A urine abnormality AE that is characterized by an abnormal pathologic state in which an excessive amount of myoglobin is found in the urine, imparting a cola-like hue, usually in association with myonecrosis and a clinical picture of weakness, myalgias, edema. David Ameriguian, Oliver He https://www.ncbi.nlm.nih.gov/pubmed/10658177 10028629 myoglobinuria AE OAE:0004443 A kidney AE that is characterized by disease or damage of the kidney, which can eventually result in kidney failure David Ameriguian, Oliver He https://www.news-medical.net/health/What-is-Nephropathy.aspx 10029151 nephropathy AE OAE:0004444 A nephropathy AE that is characterized by any adverse functional or structural changes in the kidney due to the effect of a chemical or biological product that is inhaled, ingested, injected, or otherwise absorbed, or that yields toxic metabolites with an identifiable adverse effect on the kidneys. David Ameriguian, Oliver He https://jamanetwork.com/journals/jama/fullarticle/655056 10029155 nephropathy toxic AE OAE:0004445 A congenital AE that is characterized by a birth defect and inherited condition that affects the urinary tract (kidneys, ureters, and bladder) or the genital tract (reproductive organs). David Ameriguian, Oliver He https://umiamihealth.org/treatments-and-services/nephrology/congenital-urogenital-abnormalities 10062334 congenital genitourinary abnormality AE OAE:0004446 A urinary system AE that is characterized by the abnormal enlargement of the ureter caused by any blockage that prevents urine from draining into the bladder. David Ameriguian, Oliver He https://www.cancer.gov/publications/dictionaries/cancer-terms/def/hydroureter 10020533 hydroureter AE OAE:0004447 A urinary system AE that is characterized by a condition in which the nephrons, the functional units of the kidneys, become inflamed. David Ameriguian, Oliver He https://www.medicalnewstoday.com/articles/312579.php 10029117 nephritis AE OAE:0004448 A kidney AE that is characterized by a progressive disease of the kidneys that results from sclerosis (hardening) of the small blood vessels in the kidneys. David Ameriguian, Oliver He https://www.medicinenet.com/script/main/art.asp?articlekey=4533 10029159 nephrosclerosis AE OAE:0004451 A pain AE that is characterized by pain from disease or injury to a kidney David Ameriguian, Oliver He kidney pain AE https://www.mayoclinic.org/symptoms/kidney-pain/basics/definition/sym-20050902 10039490 renal pain AE OAE:0004452 A kidney AE that is characterized by a very heterogeneous group of hereditary and acquired diseases that involve singular or complex dysfunctions of transporters and channels in the renal tubular system David Ameriguian, Oliver He https://www.amboss.com/us/knowledge/Renal_tubular_disorders 10038537 renal tubular disorder AE OAE:0004453 A renal tubular disorder AE that is characterized by acute kidney injury in the renal category involving damage to the tubule cells of the kidneys, which can lead to acute kidney failure David Ameriguian, Oliver He https://medlineplus.gov/ency/article/000512.htm 10038540 renal tubular necrosis AE OAE:0004454 A kidney AE that is characterized by vessel wall leukocyte infiltration, often with necrosis affecting the kidney David Ameriguian, Oliver He https://www.ncbi.nlm.nih.gov/pubmed/19891303 10038546 renal vasculitis AE OAE:0004455 A urinary system AE that is characterized by when a person has trouble starting or maintaining a urine stream David Ameriguian, Oliver He https://www.medicalnewstoday.com/articles/321087.php 10046542 urinary hesitation AE OAE:0004456 A urinary system AE that is characterized by any disorder that affects your urinary tract, which is the body's drainage system for removing urine David Ameriguian, Oliver He https://www.niddk.nih.gov/health-information/urologic-diseases 10046566 urinary tract disorder AE OAE:0004457 A uninary system AE that occurs in bladder David Ameriguian, Oliver He bladder disorder AE 10005037 10056655 bladder AE OAE:0004458 A urine abnormality AE that is characterized by the presence of porphyrins in the urine David Ameriguian, Oliver He https://en.wiktionary.org/wiki/porphyrinuria 10036193 porphyrinuria AE OAE:0004459 An abscess AE that is characterized by an infection that has gotten into the kidneys caused by bacteria. David Ameriguian, Oliver He https://www.urologyhealth.org/urologic-conditions/kidney-(renal)-abscess 10038351 renal abscess AE OAE:0004460 A kidney AE that is characterized by a kidney disorder where the kidneys are relatively small in comparison to the gender, age, and body weight of the patient. David Ameriguian, Oliver He https://www.novusbio.com/diseases/congenital-renal-atrophy 10038381 renal atrophy AE OAE:0004461 A kidney AE that is characterized by a sac of fluid that forms in the kidney. David Ameriguian, Oliver He https://www.radiologyinfo.org/en/info.cfm?pg=renal-cyst 10038423 renal cyst AE OAE:0004462 A bladder AE that is characterized by complete absence, or agenesis, of the urinary bladder David Ameriguian, Oliver He https://jamanetwork.com/journals/jama/fullarticle/325825 10056655 bladder agenesis AE OAE:0004463 A bladder AE that is characterized by a pouch in the bladder wall that a person may either be born with or get later. David Ameriguian, Oliver He https://www.urologyhealth.org/urologic-conditions/bladder-diverticulum 10005038 bladder diverticulum AE OAE:0004464 A bladder AE that is characterized by scarring and hardening of the tissue in the bladder. David Ameriguian, Oliver He https://www.oncolink.org/support/side-effects/genitourinary-side-effects/bladder-fibrosis 10005042 bladder fibrosis AE OAE:0004465 A bladder AE that is characterized by tumor-like formations, projecting above the level of the mucous membrane of the efferent urinary passages, and consisting of granulation tissue. David Ameriguian, Oliver He https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1464-410X.1937.tb06608.x 10005043 bladder granuloma AE OAE:0004466 A bladder AE that is characterized by an enlarged bladder where the bladder walls become thicker and then grow because they are overstretched. David Ameriguian, Oliver He enlarged bladder AE https://www.healthline.com/health/enlarged-bladder 10063408 bladder hypertrophy AE OAE:0004467 A bladder AE that is characterized by external bladder injuries that are caused by either blunt or penetrating trauma to the lower abdomen, pelvis, or perineum. David Ameriguian, Oliver He https://www.merckmanuals.com/professional/injuries-poisoning/genitourinary-tract-trauma/bladder-trauma 10061698 bladder injury AE OAE:0004468 A bladder AE that is characterized by squamous metaplasia of the transitional epithelium and keratinization; it is a rare condition. David Ameriguian, Oliver He https://www.ncbi.nlm.nih.gov/pubmed/1949238 10051257 bladder leukoplakia AE OAE:0004469 A bladder AE that is characterized by acute or chronic changes in the uterine shape or position; this can occur in women prior to labor, during labor, or postpartum. David Ameriguian, Oliver He https://emedicine.medscape.com/article/272497-overview 10049716 bladder malposition acquired AE OAE:0004470 A bladder AE that is characterized by an overly distended bladder with flattened urothelium. David Ameriguian, Oliver He https://ntp.niehs.nih.gov/nnl/urinary/urinary_bladder/dilation/urinary_bladder-dilation_508.pdf 10005033 bladder dilatation AE OAE:0004471 A bladder AE that is characterized by being the putative precursor of urothelial carcinoma in situ (CIS) and invasive urothelial carcinoma of the urinary tract. David Ameriguian, Oliver He https://www.ncbi.nlm.nih.gov/pubmed/10199474 10069448 bladder dysplasia AE OAE:0004472 A bladder AE that is characterized by a number of urinary conditions in people who lack bladder control due to a brain, spinal cord, or nerve problem. David Ameriguian, Oliver He https://www.urologyhealth.org/urologic-conditions/neurogenic-bladder 10029279 neurogenic bladder AE OAE:0004473 A urinary system AE that is characterized by a problem that affects the urinary and genital tracts (reproductive organs) This term may need to move to a higher level. More work need to be done. David Ameriguian, Oliver He https://intermountainhealthcare.org/services/pediatrics/services/urology/urogenital-disorders/ 10046694 urogenital disorder AE OAE:0004474 A procedural complication AE that occurs after a blood transfusion YH blood transfusion reaction AE OAE:0004475 A kidney AE that is characterized by a reversible form of acute renal dysfunction; it encompasses several different conditions that vary considerably. David Ameriguian, Oliver He https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3895370/ 10001017 acute prerenal failure AE OAE:0004476 A urinary system AE that is characterized by an abnormal amount of amino acids in the urine. David Ameriguian, Oliver He https://www.ucsfbenioffchildrens.org/tests/003366.html 10001939 aminoaciduria AE OAE:0004477 A congenital AE that is characterized by a wide range of kidney disease that are from birth; cystic disease may involve one or both kidneys and may or may not occur in the presence of other anomalies. David Ameriguian, Oliver He https://en.wikipedia.org/wiki/Cystic_kidney_disease 10010428 congenital cystic kidney disease AE OAE:0004478 A bladder AE that is characterized by a bladder whose muscles do not fully contract. This makes it hard to urinate. David Ameriguian, Oliver He flaccid bladder, acontracile bladder https://www.healthline.com/health/atonic-bladder 10003629 atonic urinary bladder AE OAE:0004479 A kidney AE that is characterized by a disease that causes abnormal blood clots to form in small blood vessels in the kidneys. David Ameriguian, Oliver He atypical hemolytic uremic syndrome https://rarediseases.info.nih.gov/diseases/8702/atypical-hemolytic-uremic-syndrome 10079840 atypical haemolytic uraemic syndrome AE OAE:0004480 A urinary tract infection AE that is characterized by a type of urinary tract infection caused by bacteria where one or both kidneys become infected. David Ameriguian, Oliver He https://www.urologyhealth.org/urologic-conditions/kidney-(renal)-infection-pyelonephritis 10059517 bacterial pyelonephritis AE OAE:0004481 A urinary system AE that is characterized by the presence of bacteria in urine. It is often accompanied by symptoms is a urinary tract infection while that without is known as asymptomatic bacteriuria. David Ameriguian, Oliver He https://en.wikipedia.org/wiki/Bacteriuria 10004056 bacteriuria AE OAE:0004482 A bladder neoplasm AE that is characterized by a non-cancerous tumor of the bladder that does not spread (metastasize) to other parts of the body. David Ameriguian, Oliver He http://www.cancer.ca/en/cancer-information/cancer-type/bladder/bladder-cancer/non-cancerous-tumours/?region=on 10004302 benign neoplasm of bladder AE OAE:0004483 A bladder cancer AE that is characterized by cancer that has returned following initial treatment with surgery, radiation, chemotherapy, and immunotherapy. recurrent bladder cancer https://www.texasoncology.com/types-of-cancer/bladder-cancer/recurrent-bladder-cancer 10005005 bladder cancer recurrent AE OAE:0004484 A bladder AE that is characterized by problems with urination. This may include urgency of urination, frequency of urination, ability to "hold" urine during day or night, urinary incontinence, infrequent voiding, constipation, or other diagnoses. David Ameriguian, Oliver He https://www.choc.org/programs-services/urology/dysfunctional-bladder/ 10069632 bladder dysfunction AE OAE:0004485 A bladder AE that is characterized by a blockage at the base or neck of the bladder. Such a blockage reduces or stops the flow of urine into the urethra, which carries urine from the body. David Ameriguian, Oliver He https://my.clevelandclinic.org/health/diseases/15181-bladder-outlet-obstruction- 10005060 bladder obstruction AE OAE:0004486 A bladder AE that is characterized by a narrowing that can cause bladder obstruction that leads to incomplete bladder emptying. David Ameriguian, Oliver He https://urobop.co.nz/our-services/id/62 10005082 bladder stenosis AE OAE:0004487 A bladder cancer AE that is characterized by cancer that starts in the urothelial cells that line the inside of the bladder. It is the most common type of bladder cancer. David Ameriguian, Oliver He urothelial carcinoma https://www.cancer.org/cancer/bladder-cancer/about/what-is-bladder-cancer.html 10005084 bladder transitional cell carcinoma AE OAE:0004488 A urinary system AE that is characterized by yeast in the urine which can range from procurement contamination to a sign of a life-threatening, opportunistic fungal infection. David Ameriguian, Oliver He https://www.ncbi.nlm.nih.gov/pubmed/11095903 10050762 candiduria AE OAE:0004489 A bladder AE that is characterized by a severe and long-standing reduction in bladder capacity. David Ameriguian, Oliver He https://www.auajournals.org/article/S0022-5347(17)70833-6/pdf 10010814 contracted bladder AE OAE:0004490 A kidney AE that is characterized by a medical test in which pain is elicited by percussion of the area of the back overlying the kidney (the costovertebral angle, an angle made by the vertebral column and the costal margin). David Ameriguian, Oliver He CVA tenderness, Murphy's punch sign, Pasternacki's sign, Goldflam's sign https://en.wikipedia.org/wiki/Costovertebral _angle_tenderness costovertebral angle tenderness AE OAE:0004491 A kidney AE that is characterized by a major shock and renal failure after a crushing injury to skeletal muscle. David Ameriguian, Oliver He Traumatic rhabdomyolysis, Bywaters' syndrome https://en.wikipedia.org/wiki/Crush_syndrome 10050702 crush syndrome AE OAE:0004492 A urinary system AE thta is characterized by cloudy urine when the cause of cloudiness is due to crystals found in the urine when performing a urine test. It is considered often as a benign condition. David Ameriguian, Oliver He https://en.wikipedia.org/wiki/Crystalluria 10011509 crystalluria AE OAE:0004493 A cystitis AE that is characterized by a strong, persistent urge to urinate; a burning sensation when urinating; passing ferquent, small amounts of urine; blood in the urine (hematuria); passing cloudy or strong-smelling urine; pelvic discomfort; a feeling of pressure in the lower abdomen; and a low-grade fever. David Ameriguian, Oliver He https://ww.mayoclinic.org/diseases-conditions/cystits/symptoms-causes/syc-20371306 10050687 cystitis-like symptom AE OAE:0004494 A kidney AE that is characterized by a birth defect in which a kidney is located below, above, or on the opposite side of its usual position; about one in 900 people has an ectopic kidney. David Ameriguian, Oliver He https://www.niddk.nih.gov/health-information/kidney-disease/children/ectopic-kidney 10063044 ectopic kidney AE OAE:0004495 A kidney AE that is characterized by two ureters coming from a single kidney. David Ameriguian, Oliver He https://www.chop.edu/conditions-diseases/duplex-kidney 10023416 kidney duplex AE OAE:0004496 A kidney AE that is characterized by a mixed bag of developmental abberations, all of which involve anatomical or major structural anomalies. David Ameriguian, Oliver He https://adc.bmj.com/content/77/6/471 10023430 kidney malformation AE OAE:0004497 A kidney AE that is characterized by either partial or complete fusion of the two kidneys. David Ameriguian, Oliver He https://www.omicsonline.org/open-access/renal-fusion-anomalies-a-review-of-surgical-anatomy-2161-0940-S5-001.php?aid=57809 10068033 renal fusion anomaly AE OAE:0004498 A urinary system AE that is characterized by either an anterior or posterior situation; the second type is the most common obstructive congenital malformation of the urethra. The condition presents with abnormal posterior urethral folds or membranes that prevent urine evacuation from the bladder. David Ameriguian, Oliver He https://www.sciencedirect.com/topics/medicine-and-dentistry/urethral-valves 10046479 urethral valves AE OAE:0004499 A bladder AE that is characterized by the urodynamic description of bladder outlet obstruction from detrusor muscle contraction with concomitant involuntary urethral sphincter activation. David Ameriguian, Oliver He https://www.ncbi.nlm.nih.fov/pmc/articles/PMC4739973 10012660 detrusor sphincter dyssynergia AE OAE:0004500 A kidney AE that is characterized by the most advanced stage of kidney disease. David Ameriguian, Oliver He https://www.heart.org/en/health-topics/diabetes/why-diabetes-matters/kidney-disease--diabetes 10012660 diabetic end stage renal disease AE OAE:0004501 A kidney AE that is characterized by a serious kidney-related complication of type 1 diabetes and type 2 diabetes. David Ameriguian, Oliver He diabetic kidney disease https://www.mayoclinic.org/diseases-conditions/diabetic-nephropathy/symptoms-causes/syc-20354556 10061835 diabetic nephropathy AE OAE:0004502 A kidney AE that is characterized by a rare disease that attacks the kidney's filtering units (glomeruli) causing serious scarring which leads to permanent kidney damage and even failure. David Ameriguian, Oliver He https://nephcure.org/livingwithkidneydisease/understanding-glomerular-disease/understanding-fsgs/ 10067757 focal segmental glomerulosclerosis AE OAE:0004503 A urinary system AE that is characterized by urinary retention in young women; the problem is caused by the sphincter's failure to relax to allow urine to be passed. David Ameriguian, Oliver He https://www.bladderandbowel.org/bladder/bladder-conditions-and-symptoms/fowlers-syndrome/ 10071718 fowler's syndrome AE OAE:0004504 A urinary system AE that is characterized by any symptom related to the urinary and genital organs. David Ameriguian, Oliver He https://www.stanfordchildrens.org/en/topic/default?id=overview-of-genitourinary-disorders-90-P03103 10075537 genitourinary symptom AE OAE:0004505 A kidney AE that is characterized by inflammation and subsequent damage of the glomeruli leading to hematuria, proteinuria, and azotemia; it may be caused by primary renal disease or systemic conditions. Acute glomerulonephritis is the third most common cause of end-stage renal disease. David Ameriguian, Oliver He https://emedicine.medscape.com/article/777272-overview 10018366 glomerulonephritis acute AE OAE:0004506 A kidney AE that is characterized by glomerulonephritis that develops silently (without symptoms) over several years, leading, often, to complete kidney failure. David Ameriguian, Oliver He https://www.kidney.org/atoz/content/glomerul 10018367 glomerulonephritis chronic AE OAE:0004507 A kidney AE that is characterized by a type of glomerulonephritis caused by deposits in the kidney glomerular mesangium and basement membrane thickening. David Ameriguian, Oliver He https://en.wikipedia.org/wiki/Membranoproliferative_glomerulonephritis 10018370 glomerulonephritis membranoproliferative AE OAE:0004508 A kidney AE that is characterized by a specific type of glomerulonephritis that develops when inflammation of your kidney structures causes problems with the functioning of your kidney. David Ameriguian, Oliver He https://www.healthline.com/health/membranous-nephropathy 10018372 glomerulonephritis membranous AE OAE:0004509 A kidney AE that is characterized by a disease affecting the kidneys which causes a nephrotic syndrome. David Ameriguian, Oliver He minimal change disease https://en.wikipedia.org/wiki/Minimal_change_disease 10018374 glomerulonephritis minimal lesion AE OAE:0004510 A kidney AE that is characterized by an increased number of cells in the glomerulus. David Ameriguian, Oliver He https://en.wikipedia.org/wiki/Glomerulonephritis 10018376 glomerulonephritis proliferative AE OAE:0004511 A kidney AE that is characterized by any disease of renal glomeruli. David Ameriguian, Oliver He 10018620 glomerulonephropathy AE OAE:0004512 An autoimmune disorder AE that is characterized by a rare autoimmune disease in which antibodies attack the basement membrane in lungs and kidneys, leading to bleeding from the lungs and kidney failure. David Ameriguian, Oliver He goodpasture syndrome https://en.wikipedia.org/wiki/Goodpasture_syndrome 10018620 goodpasture's syndrome AE OAE:0004513 A urinary system AE that is characterized by bleeding of the urinary tract that can happen without a clear cause or as a result of an injury. David Ameriguian, Oliver He hemorrhage urinary tract https://www.hog.org/handbook/article/3/33/urinary-tract-bleeds 10055847 haemorrhage urinary tract AE OAE:0004514 A kidney AE that is characterized by a rare kidney disease leading to chronic kidney disease in a non-negligible percentage of patients. David Ameriguian, Oliver He https://cjasn.asnjournals.org/content/6/3/679 10069440 henoch-schonlein purpura nephritis AE OAE:0004515 A urinary system AE that is characterized by when hemoglobin is released from RBCs into the bloodstream in excess of the binding capacity of haptoglobin. It occurs with chronic introvascular hemolysis and is called "brown urine." David Ameriguian, Oliver He hemosiderinuria https://en.wikipedia.org/wiki/Hemosiderinuria 10069395 haemosiderinuria AE OAE:0004516 A kidney AE that is characterized by rapid deterioration in kidney function in individuals with cirrhosis or fulminant liver failure. It is a life-threatening medical condition. David Ameriguian, Oliver He https://en.wikipedia.org/wiki/Hepatorenal_syndrome 10019846 hepatorenal syndrome AE OAE:0004517 A urinary system AE that is characterized by an excessive urinary excretion of oxalate. David Ameriguian, Oliver He https://en.wikipedia.org/wiki/Hyperoxaluria 10020703 hyperoxaluria AE OAE:0004518 A nephropathy AE that is characterized by a disease of the kidneys where the vasculature of the kidneys is damaged with an increase in blood pressure (high blood pressure). David Ameriguian, Oliver He https://www.myvmc.com/diseases/hypertensive-nephropathy/ 10055171 hypertensive nephropathy AE OAE:0004519 A urinary system AE that is characterized by low urinary-citrate excretion (defined as less than 320 mg/day), which can cause kidney stones in up to 2/3 of cases. David Ameriguian, Oliver He https://en.wikipedia.org/wiki/Kidney_stone_disease#Hypocitraturia 10070871 hypocitraturia AE OAE:0004520 A congenital AE that is characterized by a congenital disorder of the urethra where the urinary opening is not at the usual location on the head of the penis. David Ameriguian, Oliver He https://en.wikipedia.org/wiki/Hypospadias 10021093 hypospadias AE OAE:0004521 A bladder AE that is characterized by the hypotonic bladder muscle failing to squeeze hard enough to completely empty the bladder. David Ameriguian, Oliver He http://urologygroup.com/conditions-we-treat/urinary-retention/ 10058914 hypotonic urinary bladder AE OAE:0004522 An AE with the fragmentation of the nucleus Anthony Huffman, Oliver He https://en.wikipedia.org/wiki/Karyorrhexis https://jvi.asm.org/content/78/22/12672.long https://www.nature.com/articles/43591 10063393 karyorrhexis AE OAE:0004523 A cardiac disorder AE that shows a disorder of the heart's electrical activity, which can cause sudden, uncontrollable, dangerous arrhythmias in response to exercise or stress. The term "long QT" refers to an abnormal pattern seen on an EKG (electrocardiogram), a test that detects and records the heart's electrical activity. Madison Kalter, Jamie Ngai, Beccca Racz, Oliver He LQTS AE https://en.wikipedia.org/wiki/Long_QT_syndrome https://www.nhlbi.nih.gov/health-topics/long-qt-syndrome long QT syndrome AE OAE:0004524 an injection-site AE that displays erythema at the injection site. Liwei Wang, Oliver He injection site erythema AE OAE:0004525 an adverse event that occurs immediately after an injection Liwei Wang, Oliver He immediate post-injection reaction AE OAE:0004526 an adverse event that displays swelling at the injection site Liwei Wang, Oliver He Injection site swelling AE OAE:0004527 Jessica DeGuise, Oliver He 1003880 axillary vein thrombosis AE OAE:0004528 Jessica DeGuise, Oliver He 10063093 basilar artery thrombosis AE OAE:0004529 Jessica DeGuise, Oliver He 10062573 brain stem thrombosis AE OAE:0004530 Jessica DeGuise, Oliver He 10053994 cardiac ventricular thrombosis AE OAE:0004531 Jessica DeGuise, Oliver He 10079523 catheter site thrombosis AE OAE:0004532 Jessica DeGuise, Oliver He 10007830 cavernous sinus thrombosis AE OAE:0004533 Jessica DeGuise, Oliver He 10063176 prosthetic cardiac valve thrombosis AE OAE:0004534 An adverse event with the outcome of the cerebral venous sinus thrombosis (CVST), which occurs when a blood clot forms in the brain’s venous sinuses. CVST prevents blood from draining out of the brain. As a result, blood cells may break and leak blood into the brain tissues, forming a hemorrhage. Jessica DeGuise, Oliver He https://www.hopkinsmedicine.org/health/conditions-and-diseases/cerebral-venous-sinus-thrombosis 10083037 CVST cerebral venous sinus thrombosis AE OAE:0004535 Jessica DeGuise, Oliver He 10072240 foetal placental thrombosis AE OAE:0004536 Jessica DeGuise, Oliver He 10019636 hepatic artery thrombosis AE OAE:0004537 Jessica DeGuise, Oliver He 10019713 hepatic vein thrombosis AE OAE:0004538 Jessica DeGuise, Oliver He 10027397 mesenteric artery thrombosis AE OAE:0004539 Jessica DeGuise, Oliver He 10072564 peripheral artery thrombosis AE OAE:0004540 An adverse event in any patient presenting with both acute venous or arterial thrombosis AND new onset thrombocytopenia after a medical intervention such as vaccination. Oliver He, Jessica DeGuise TTS https://brightoncollaboration.us/wp-content/uploads/2021/04/TTS-Case-Finding-and-Definition-Process.v9.0-April-16-202115853.pdf thrombosis with thrombocytopenia syndrome AE OAE:0004541 Jessica DeGuise, Oliver He 10077022 postpartum thrombosis AE OAE:0004542 Jessica DeGuise, Oliver He 10036300 postpartum venous thrombosis AE OAE:0004543 Jessica DeGuise, Oliver He 10037459 pulmonary venous thrombosis AE OAE:0004544 Jessica DeGuise, Oliver He 10038380 renal artery thrombosis AE OAE:0004545 Jessica DeGuise, Oliver He 10062108 retinal vascular thrombosis AE OAE:0004546 Jessica DeGuise, Oliver He 10071316 spinal artery thrombosis AE OAE:0004547 Jessica DeGuise, Oliver He 10074600 splenic artery thrombosis AE OAE:0004548 Jessica DeGuise, Oliver He 10041659 splenic vein thrombosis AE OAE:0004549 Jessica DeGuise, Oliver He 10043634 thrombosis prophylaxis AE OAE:0004550 Jessica DeGuise, Oliver He 10063934 vascular stent thrombosis AE OAE:0004551 Jessica DeGuise, Oliver He 10078675 vascular access site thrombosis AE OAE:0004552 Jessica DeGuise, Oliver He 10069922 vascular graft thrombosis AE OAE:0004553 Jessica DeGuise, Oliver He 10063363 brachiocephalic vein thrombosis AE OAE:0004554 Jessica DeGuise, Oliver He 10057777 vertebral artery thrombosis AE OAE:0004555 Jessica DeGuise, Oliver He 10077623 portosplenomesenteric venous thrombosis AE OAE:0004556 Jessica DeGuise, Oliver He 10058568 arteriovenous fistula thrombosis AE OAE:0004557 Jessica DeGuise, Oliver He 10074494 hepatic vascular thrombosis AE OAE:0004558 Jessica DeGuise, Oliver He 10069550 intrapericardial thrombosis AE OAE:0004559 Jessica DeGuise, Oliver He 10081144 ophthalmic artery thrombosis AE OAE:0004560 Jessica DeGuise, Oliver He 10074349 ophthalmic vein thrombosis AE OAE:0004561 an arterial embolism AE that results in the blockage of the main artery of a lung or one of its branches by a substance that has travelled from elsewhere in the body through the bloodstream [SS] moved by relation 'SubclassOf' from lung disorder AE to arterial embolism on 01/07/14 SZ, SS, YH, JD WEB: http://www.ncbi.nlm.nih.gov/pubmed/23299609 10037437 pulmonary thrombosis AE HPO: HP_0002204 SIDER: C0034065 OAE:0004562 Jessica DeGuise, Oliver He 10038518 renal vein thrombosis AE OAE:0004563 Jessica DeGuise, Oliver He 10038831 retinal artery thrombosis AE OAE:0004564 Jessica DeGuise, Oliver He 10074601 splenic thrombosis AE OAE:0004565 Jessica DeGuise, Oliver He 10042334 subclavian artery thrombosis AE OAE:0004566 Jessica DeGuise, Oliver He 10043626 thrombosis mesenteric vessel AE OAE:0004567 Jessica DeGuise, Oliver He 10044457 transverse sinus thrombosis AE OAE:0004568 Jessica DeGuise, Oliver He 10076190 vaccination site thrombosis AE OAE:0004569 Jessica DeGuise, Oliver He ophthalmic thrombosis AE OAE:0004570 Jessica DeGuise, Oliver He hepatic thrombosis AE OAE:0004571 Jessica DeGuise, Oliver He renal thrombosis AE OAE:0004572 Jessica DeGuise, Oliver He 10062108 retinal thrombosis AE OAE:0004573 Jessica DeGuise, Oliver He brain thrombosis AE OAE:0004574 cardiac thrombosis AE OAE:0004575 Jessica DeGuise, Oliver He 10019713 visceral venous thrombosis AE OAE:0004576 A definit case of TTS Oliver He, Jessica DeGuise Level 1 thrombosis with thrombocytopenia syndrome AE https://brightoncollaboration.us/wp-content/uploads/2021/04/TTS-Case-Finding-and-Definition-Process.v9.0-April-16-202115853.pdf Level 1 TTS AE OAE:0004577 A probable case of TTS Oliver He, Jessica DeGuise Level 2 thrombosis with thrombocytopenia syndrome AE https://brightoncollaboration.us/wp-content/uploads/2021/04/TTS-Case-Finding-and-Definition-Process.v9.0-April-16-202115853.pdf Level 2 TTS AE OAE:0004578 A possible case TTS Oliver He, Jessica DeGuise Level 3 thrombosis with thrombocytopenia syndrome AE https://brightoncollaboration.us/wp-content/uploads/2021/04/TTS-Case-Finding-and-Definition-Process.v9.0-April-16-202115853.pdf Level 3 TTS AE OAE:0004579 A reported case as TTS but there is insufficient evidence to meet any level of the case. Oliver He, Jessica DeGuise Level 4 thrombosis with thrombocytopenia syndrome AE https://brightoncollaboration.us/wp-content/uploads/2021/04/TTS-Case-Finding-and-Definition-Process.v9.0-April-16-202115853.pdf Level 4 TTS AE OAE:0004580 most likely not a case of TTS Oliver He, Jessica DeGuise Level 5 thrombosis with thrombocytopenia syndrome AE https://brightoncollaboration.us/wp-content/uploads/2021/04/TTS-Case-Finding-and-Definition-Process.v9.0-April-16-202115853.pdf Level 5 TTS AE OAE:0004581 an arterial embolism AE that results in the blockage of the main artery of a lung or one of its branches by a substance that has travelled from elsewhere in the body through the bloodstream [SS] moved by relation 'SubclassOf' from lung disorder AE to arterial embolism on 01/07/14 SZ, SS, YH, JD WEB: http://www.ncbi.nlm.nih.gov/pubmed/23299609 10037340 pulmonary artery thrombosis AE HPO: HP_0002204 SIDER: C0034065 OAE:0004582 a thrombosis AE that occurs in subclavian vein. Among patients with effort-induced thrombosis with subclavian vein stenosis, the thrombosis occurs in the dominant arm in 80% of cases. SS WEB: http://emedicine.medscape.com/article/424777-overview#showall 10049446 subclavian thrombosis AE OAE:0004583 Jessica DeGuise, Oliver He 10027397 mesenteric thrombosis AE doves1:a43ca2f5_8117_40d7_8487_72f616a86366 health condition control outcome A Health Condition Control Outcome is a Health Benefit Outcome that describes the ability to better understand how to manage a health condition that a patient has. doves1:a61dbcd2_0d2c_4269_a9dd_c34cb9fd5965 adolescent age group Adolescent Age Group is an Age Group defined according to the NIH as individuals 13-17 years olf. Accoridng to the NIH, they may also be referred to as teenagers depending on the context. https://www.nih.gov/nih-style-guide/age doves1:ad3e8f0e_7216_4aeb_a35a_1c9802d501c2 reduction in hypoglycemic events outcome A Reduction in Hypoglycemic Events Outcome is a Reduction in Glycemic Events Outcome which describes the influence of a digital medicine application in reducing hypoglycemic events. doves1:b2d3030b_40f0_4dd1_aff3_54541392be23 reduction in hyperglycemic events outcome A Reduction in Hyperglycemic Events Outcome is a Reduction in Glycemic Events Outcome which describes the influence of a digital medicine application in reducing hyperglycemic events. doves1:b66e23da_fb2f_44cf_a6b0_632a066bd00a blood glucose time above range outcome A Blood Glucose Time Above Range Outcome is a Glycemic Control Outcome that describes how much time a person's blood sugar is above range, which is between 70 and 180 mg/dL for most people. A Blood Glucose Time Above Range Outcome is a Glycemic Control Outcome that describes how much time a person's blood sugar is above range, which is between 70 and 180 mg/dL for most people. doves1:b80c62bc_fe83_4ea8_bd0d_280adf6aa06b increased primary care encounter rate outcome An Increased Primary Care Encounter Rate Outcome is a Modified Primary Care Outcome that is influenced by digial medicine applications that increase appropriate healthcare utilization in primary care. doves1:b897832d-5e82-44b2-bbcc-9fe8ec64fea0 White is a Race defined as a person whose origins are in any of the original peoples of Europe, the Middle East, or North Africa. Source: https://www.nih.gov/nih-style-guide/race-national-origin#white white race doves1:c79ccb8f_0c35_4c25_bf04_037bdd603325 reduction in diabetic ketoacidosis events outcome Reduction in DKA Events Outcome A Reduction in Diabetic Ketoacidosis Events Outcome is a Reduction in Hyperglycemic Events Outcome which describes the influence of a digital medicine application in reducing diabetic ketoacidosis events. doves1:ca912fb6_a4a7_487e_9646_f0844650b77f blood glucose time in range outcome A Blood Glucose Time in Range Outcome is a Glycemic Control Outcome that describes how much time a person's blood sugar is in range, which is between 70 and 180 mg/dL for most people. A Blood Glucose Time in Range Outcome is a Glycemic Control Outcome that describes how much time a person's blood sugar is in range, which is between 70 and 180 mg/dL for most people. doves1:e63990da-3423-41df-ab19-98af4cec86c7 race GSSO:002199 Race is a Refining Value defined as a social construct meant to group people according to common, visible physical traits. Categories of race follow guidance from the United States Census Bureau as of Aug 4, 2021. https://www.census.gov/newsroom/blogs/random-samplings/2021/08/measuring-racial-ethnic-diversity-2020-census.html doves1:efe61c04_f9aa_484c_846c_d7ee7cb02f58 Gender is a Refining Value that refers to the characteristics of women, men, girls and boys that are socially constructed. This includes norms, behaviours and roles associated with being a woman, man, girl or boy, as well as relationships with each other. As a social construct, gender varies from society to society and can change over time. Gender is hierarchical and produces inequalities that intersect with other social and economic inequalities. Gender interacts with but is different from sex, which refers to the different biological and physiological characteristics of females, males and intersex persons, such as chromosomes, hormones and reproductive organs. Gender and sex are related to but different from gender identity. Gender identity refers to a person’s deeply felt, internal and individual experience of gender, which may or may not correspond to the person’s physiology or designated sex at birth. Source: https://www.who.int/health-topics/gender#tab=tab_1 gender adult age group Adult Age Group is an Age Group defined by the NIH as those individuals 18 years old or older. https://www.nih.gov/nih-style-guide/age Native Hawaiian of Other Pacific Islander is a Race defined as a person who traces their lineage and language to Polynesians, including Tahitians, Maoris and Samoans, or to one of eight groups—Fijian, Guamanian, Hawaiian, Northern Mariana Islander, Palauan, Samoan, Tahitian and Tongan respectively. Source: https://www.nih.gov/nih-style-guide/race-national-origin#:~:text=Asian%2C%20Asian%20American,Philippines%2C%20Thailand%2C%20and%20Vietnam. native hawaiian or other pacific islander race NIST certification outcome A NIST Certification Outcome is a Technical Certification Outcome that describes certification by the National Institutes of Standards and Technology https://www.nist.gov/accreditation decreased number of appointments scheduled per Worker-Time unit outcome Decreased Number of Appointments Scheduled per Worker-Time Unity outcome is an Appointment Scheduling Outcome that describes a digital medicine application's potential - through its own appointment scheduling ability - to decrease the number of appointments scheduled per unit of time by workers. continuous glucose monitor coefficient of variation control outcome CGM CV Control Outcome CGM Coefficient of Variation Control Outcome Contiunuous Glucose Monitor Coefficient of Variation Control Outcome is a Glycemic Control Outcome that describes a digital medicine application's influence over a continuous glucose monitor's coefficient of variation, which is the glucose standard deviation divided by the mean glucose, expressed as a percent. Asian is a Race defined as a person whose origins are in any of the original populations of the Far East, Southeast Asia, or the Indian subcontinent, including, for example, Cambodia, China, India, Japan, Korea, Malaysia, Pakistan, the Philippines, Thailand, and Vietnam. Source: https://www.nih.gov/nih-style-guide/race-national-origin#:~:text=Asian%2C%20Asian%20American,Philippines%2C%20Thailand%2C%20and%20Vietnam. asian race glycemic control outcome A Glycemic Control Outcome is a Sign Control Outcome that reflects the control of blood sugars, particularly in individuals with diabetes. It may be reflected by improvements in hemglobin A1c (HbA1c), average glucose, fewer hypoglycemic events, fewer hyperglycemic events, fewer diabetic ketoacidosis events, time in range, time below range, time above range, among others. decreased primary care encounter rate outcome A Decreased Primary Care Encounter Rate Outcome is a Modified Primary Care Outcome that is influenced by digial medicine applications that decrease inappropriate healthcare utilization in primary care. blood pressure control outcome A Blood Pressure Control Outcome is a Sign Control Outcome that reflects the control of blood pressure, particularly in individuals with hypertension, but also potentially in individuals with hypotension. It may be reflected by improvements in being within a desired blood pressure range, fewer hypertnsive urgency / emergency events, fewer hypotensive events, and lower rates of end organ damage, among others. screening process of care outcome Screening Process of Care Outcome is a Process of Care Outcome that describes a digital medicine application's ability to help close gaps in performance on patient screening for standard processes of care such as vaccination screening, cancer screening, and others. menopause symptom control outcome A Menopause Symptom Control is a Symptom Control Outcome that describes the influence of a digital medicine application on menopause symptoms. hemoglobin A1C control outcome Hb A1C Control Outcome HbA1C Control Outcome A Hemoglobin A1C Control Outcome is a Glycemic Control Outcome describes the levels which dictate how controlled a patient's hemoglobin A1C is. Less than 8% indicates control and greater than 9% indicates poor control. A Hemoglobin A1C Control Outcome is a Glycemic Control Outcome describes the levels which dictate how controlled a patient's hemoglobin A1C is. Less than 8% indicates control and greater than 9% indicates poor control. Black or African American is a Race defined as a person whose origins are in any of the Black racial groups of Africa. If appropriate, specific terms such as Haitian or Nigerian may also be used. Black is broader and more inclusive than African American. Source: https://www.nih.gov/nih-style-guide/race-national-origin#:~:text=Asian%2C%20Asian%20American,Philippines%2C%20Thailand%2C%20and%20Vietnam. black or african american race continuous glucose monitor glucose management indicator control outcome CGM Glucose Management Indicator Control Outcome Continuous Glucose Monitor GMI Control Outcome Continuous Glucose Monitor Glucose Management Indicator Control Outcome A Continuous Glucose Monitor Glucose Management Indicator Control Outcome is a Glycemic Control Outcome which uses a sensor inserted into the skin to continuously track blood glucose levels. A Continuous Glucose Monitor Glucose Management Indicator Control Outcome is a Glycemic Control Outcome which uses a sensor inserted into the skin to continuously track blood glucose levels. reduced paid claims outcome Reduced Paid Claims Outcome is a Reduced Costs Outcome describing a digital medicine application's influence on reducing the actual payments, net of recoveries, made to a health and medical services provider or reimbursed to an individual by a carrier, third party administrator, or excess loss of stop loss carrier. Reduced Paid Claims Outcome is a Reduced Costs Outcome describing a digital medicine application's influence on reducing the actual payments, net of recoveries, made to a health and medical services provider or reimbursed to an individual by a carrier, third party administrator, or excess loss of stop loss carrier. Some Other Race is a Race defined by exlcusion as none of the other categories of Race. some other race percent of prior authorization approvals outcome Percent or Prior Authorization Approvals Outcome is a Billing Outcome that describes a digital medicine application's ability to influence the percent of prior authorizations submitted that get approved. blood glucose time below range outcome A Blood Glucose Time Below Range Outcome is a Glycemic Control Outcome that describes how much time a person's blood sugar is below range, which is between 70 and 180 mg/dL for most people. A Blood Glucose Time Below Range Outcome is a Glycemic Control Outcome that describes how much time a person's blood sugar is below range, which is between 70 and 180 mg/dL for most people. reduction in hyperosmolar hyperglycemic state events outcome Reduction in HSS Events Outcome A Reduction in Hyperosmolar Hyperglycemic State Events Outcome is a Reduction in Hyperglycemic Events Outcome which describes the influence of a digital medicine application in reducing hyperosmolar hyperglycemic state events. American Indian or Alaska Native is a Race referring to a person having origins in any of the original peoples of North and South America (including Central America) and who maintains tribal affiliation or community attachment. Source: https://www.census.gov/history/pdf/c2010br-10.pdf american indian or alaska native race reduction in glycemic events outcome A Reduction in Glycemic Events Outcome is a Glycemic Control Outcome which describes a digital medicine application's influence in reducing glycemic events. doves-ontology:ACL_Title_III-D_Evidence-Based_Program_Certification administration for community living (ACL) title III-D Evidence-Based program certification The Administration for Community Living (ACL) Evidence-Based Program Certification is a certification that a given program meets the criteria for evidence, as funded through the Older Americans Act (OA) Title III-D. https://www.ncoa.org/article/apply-to-become-an-evidence-based-program doves-ontology:Acute_Rehabilitation_Facility Acute Rehabilitation Facility is a Setting in which a digital medicine or digital therapeutic applicaiton may be used. Acute rehabilitation is a program, usually based in a hospital, that helps people who have experienced some major injury, disorder or illness to regain the skills needed to return to everyday living. Using a multidisciplinary team approach, the inpatient rehabilitation program covers everything from regaining the ability to walk after an amputation, to talking after a stroke, to being able to safely take daily medications after a serious illness. Rehabilitation can be used to retrain a person on the basics of activities of daily living or may be used to help an elderly person recover from a fall. Inpatient rehabilitation hospitals/units are licensed and certified facilities, which primarily promote special rehabilitative health care services rather than general medical and surgical services. Rehabilitation is defined as restoration of a disabled person to self-sufficiency or maximal possible functional independence. An inpatient rehabilitation program utilizes an inter-disciplinary coordinated team approach that involves a minimum of three (3) hours rehabilitation services daily. These services may include physical therapy, occupational therapy, speech therapy, cognitive therapy, respiratory therapy, psychology services, prosthetic/orthotic services, or a combination thereof. Source: https://www.thepatientchoice.com/elderly-care-facilities/what-are-acute-care-rehab-facilities/ acute rehabilitation facility setting doves-ontology:Alcohol_Use_Outcome Alcohol Use Outcome is a Lifestyle Adherence Outcome that describes the influence a digital medicine applicaiton has on an individual's use of or tracking of either abstinence from or use of alcohol. alcohol use outcome doves-ontology:Ambulatory Ambulatory Setting is a Setting for which a digital medicine or therapeutic product may be designed, and is described as a place of medical or surgical treatment in which a patient does not spend the night, including primary care settings and outpatient surgery centers. Source: https://www.sciencedirect.com/topics/social-sciences/outpatient-clinic ambulatory setting doves-ontology:Ante-partum_Age_Group In Utero Age Group is an Age Group defined as a term or pre-term human still in utero. in utero age group doves-ontology:Anxiety_Control anxiety control outcome An Anxiety Control Outcome is a Menopause Symptom Control Outcome that describes the influence of a digital medicine application on anxiety control related to menopause. doves-ontology:Anxiety_Control_Outcome anxiety control outcome An Anxiety Control Outcome is a Symptom Control Outcome that describes the influence of a digital medicine application on anxiety control. doves-ontology:Area_Under_the_Curve Increased Area Under the Curve (Receiver Operator Curve) is a type of Increased Accuracy measurement that is a measure of how well a parameter can distinguish between two diagnostic groups (diseased/normal) or between two tests. AUC ranges in value from 0 to 1. A model whose predictions are 100% wrong has an AUC of 0.0; one whose predictions are 100% correct has an AUC of 1.0. Source: https://developers.google.com/machine-learning/crash-course/classification/roc-and-auc#:~:text=AUC%20ranges%20in%20value%20from,AUC%20is%20scale%2Dinvariant. increased area under the curve doves-ontology:Bed_Control_Outcome bed control outcome Bed Control Outcome is a Resource Utilization Outcome that describes a digital medicine application's ability to influence bed control metric performance at healthcare facilities with beds. doves-ontology:Best_Corrected_Visual_Acuity_Outcome best corrected visual acuity outcome A Best Corrected Visual Acuity Outcome is a Vision Control Outcome which is a measurement which represents the ability to identify and distinguish shapes and objects at a set distance with corrective lenses. It is most commonly used when testing for eye conditions. The most common way is to ask patients to identify letters on a chart. A Best Corrected Visual Acuity Outcome is a Vision Control Outcome which is a measurement which represents the ability to identify and distinguish shapes and objects at a set distance with corrective lenses. It is most commonly used when testing for eye conditions. The most common way is to ask patients to identify letters on a chart. doves-ontology:Biofeedback_Technology Biofeedback Technology is a Technology defined as a process whereby electronic monitoring of a normally automatic bodily function is used to train someone to acquire voluntary control of that function. Source: Oxford Languages Dictionary biofeedback technology doves-ontology:Bladder_Emptying_Time_Outcome bladder emptying time outcome Bladder Emptying Time Outcome is a Urinary Control Outcome that describes the amount of time to physiologically empty one's bladder. doves-ontology:Bluetooth_SIG_Standard_Compliance_Outcome Bluetooth SIG Standard Compliance Outcome is a Data Standards Outcome that is defined as adherence to the Bluetooth Special Interest Group standards. Source: https://en.wikipedia.org/wiki/Bluetooth bluetooth SIG standard compliance outcome doves-ontology:Breast_Cancer_Screening_Outcome breast cancer screening outcome A Breast Cancer Screening Outcome is a HEDIS Measures Outcome related to HEDIS Breast Cancer Screening (BCS) that assesses women 50-74 years of age who had at least one mammogram to screen for breast cancer in the past two years. https://www.ncqa.org/hedis/measures/breast-cancer-screening/#:~:text=Breast%20Cancer%20Screening%20(BCS%2C%20BCS,in%20the%20past%20two%20years. doves-ontology:Bristol_Stool_Scale_Outcome The Bristol Stool Scale Outcome is a Sign Control Outcome that reflects the influence of a digital medicine application on the consistency of stool. https://en.wikipedia.org/wiki/Bristol_stool_scale bristol stool scale outcome A Bristol Stool Scale Outcome is a Sign Control Outcome that describes the Bristol Stool Scale , which is an aid used to diagnose and classify stools into seven different cateogories. Types 1 and 2 indicate constipation, types 3 to 5 indicate the normal range, and types 6 and 7 are loose stools, which indicate diarrhea. A Bristol Stool Scale Outcome is a Sign Control Outcome that describes the Bristol Stool Scale , which is an aid used to diagnose and classify stools into seven different cateogories. Types 1 and 2 indicate constipation, types 3 to 5 indicate the normal range, and types 6 and 7 are loose stools, which indicate diarrhea. doves-ontology:CISA_NSA_Identity_and_Access_Management_Compliance_Outcome CISA NSA Identity and Access Management Compliance Outcome is a Cybersecurity and Privacy Outcome developed by the Cybersecurity and Infrastructure Security Agency (CISA) and the National Security Agency (NSA) to provide system administrators with best practices and actionable recommendations to better secure their systems from threats to Identity and Access Management. Souce: https://www.cisa.gov/news-events/alerts/2023/03/21/cisa-and-nsa-release-enduring-security-framework-guidance-identity-and-access-management CISA NSA identity and access management compliance outcome doves-ontology:Cancer_Outcomes cancer outcome A Cancer Outcome is a Health Benefit Outcome describing the outcomes of digital medicine applications on cancer. doves-ontology:Caregiver_Burden_Reduction_Outcome caregiver burden reduction outcome Caregiver Burden Reduction Outcome is a Family and Carrgiver Outcome that describes a digital medicine application's influence on the amount of burden felt by a caregiver of a patient. doves-ontology:Change_in_Number_of_Lines_of_Visual_Acuity_Outcome change in number of lines of visual acuity outcome A Change in Number of Lines of Visual Acuity Outcome is a Vision Control Outcome that should signal additional investigation if two-lines or more are different from the last visit, and should signal clinical significance if the changes are three-lines or more. These line changes help signal changes in visual acuity. A Change in Number of Lines of Visual Acuity Outcome is a Vision Control Outcome that should signal additional investigation if two-lines or more are different from the last visit, and should signal clinical significance if the changes are three-lines or more. These line changes help signal changes in visual acuity. doves-ontology:Change_in_Stereoacuity_Outcome change in stereoacuity outcome A Change in Stereoacuity Outcome is a Vision Control Outcome that are related to chanages in ocular alignment. Deterioration in stereoacuity can be an indicator for surgery in some conditions. A Change in Stereoacuity Outcome is a Vision Control Outcome that are related to chanages in ocular alignment. Deterioration in stereoacuity can be an indicator for surgery in some conditions. doves-ontology:Change_in_Visual_Acuity_Outcome change in visual acuity outcome A Change in Visual Acuity Outcome is a Vision Control Outcome that can be due to several factors including: older age, uncorrected refractive error, presbyopia, retinal disorders, optic nerve disorders, and more. A Change in Visual Acuity Outcome is a Vision Control Outcome that can be due to several factors including: older age, uncorrected refractive error, presbyopia, retinal disorders, optic nerve disorders, and more. doves-ontology:Chart_Audit_Outcome Chart Audit Outcome is a Healthcare Operation Outcome that describes a digital medicine application's ability to automatically audit patient charts to identify patterns of interest. These may include, for example, over treatment, under treatment, or patients with disease without a treatment plan. chart audit outcome doves-ontology:Child_Age_Group child age group Child Age Group is a Pediatric Age Group defined by the NIH as thos eindividuals 1 year to 12 years old. https://www.nih.gov/nih-style-guide/age doves-ontology:Code_Event_Outcome A Code Event Outcome is a Critical Care Event Outcome that describes an event such as cardiopulmonary arrest or an acute stroke. A digital medicine or therapeutic application may influence a Code Event Outcome through early detection of signs or symptoms, enabling early intervention. code event outcome doves-ontology:Community_Based_Organization_Referral_Outcome community based organization referral outcome A Community Based Organization Referral Outcome is a Healthcare Access Outcome that described a digital medicine application's ability to facilitate referrals to community based organizations. doves-ontology:Completion_Rate_Outcome completion rate outcome A Completion Rate Outcome is an Engagement and Adherence Outcome that is reflected by a digital medicine application's influence for its user to complete an activity, action, intervnetion, or program. doves-ontology:Critical_Care_Event_Outcome A Critical Care Event Outcome is a Safety Event Outcome that describes an event in which a person's life is in imminent danger due to a medical reason. critical care event outcome doves-ontology:Customer_Support customer support outcome Customer Support Outcome is a Satisfaction Outcome that describes the level of satisfaction that a user of a digital medicine application has with Customer Support for the given application. doves-ontology:DICOM DICOM compliance outcome A Digital Imaging and Communications in Medicine (DICOM) Compliance Outcome is a Data Standards Outcome that describes whether a digital medicine application outcome adheres to the DICOM standard which specifies a non-proprietary data interchange protocol, digital image format, and file structure for biomedical images and image-related information. The fundamental concepts of the DICOM message protocol, services, and information objects are reviewed as background for a detailed discussion of the functionality of DICOM; the innovations and limitations of the Standard; and the impact of various DICOM features on information system users. DICOM addresses five general application areas: (1) network image management, (2) network image interpretation management, (3) network print management, (4) imaging procedure management, (5) off-line storage media management. DICOM is a complete specification of the elements required to achieve a practical level of automatic interoperability between biomedical imaging computer systems—from application layer to bit-stream encoding. A Digital Imaging and Communications in Medicine (DICOM) Compliance Outcome is a Data Standards Outcome that describes whether a digital medicine application outcome adheres to the DICOM standard which specifies a non-proprietary data interchange protocol, digital image format, and file structure for biomedical images and image-related information. The fundamental concepts of the DICOM message protocol, services, and information objects are reviewed as background for a detailed discussion of the functionality of DICOM; the innovations and limitations of the Standard; and the impact of various DICOM features on information system users. DICOM addresses five general application areas: (1) network image management, (2) network image interpretation management, (3) network print management, (4) imaging procedure management, (5) off-line storage media management. DICOM is a complete specification of the elements required to achieve a practical level of automatic interoperability between biomedical imaging computer systems—from application layer to bit-stream encoding. doves-ontology:Decreased_Diagnostic_Test_Unit_Cost_Outcome reduced diagnostic test unit cost outcome A Reduced Diagnostic Test Unit Cost Outcome is a Reduced Costs Outcome that reflects a digital medicine application's influence on reducing the cost per test for a patient. doves-ontology:Decreased_Image_Processing_Time Decreased Image Processing Time is an Increased Radiology Diagnostic Throughput Outcome that describes a digital medicine application's ability to reduce the amount of time required to process a radiology image. decreased image processing time doves-ontology:Decreased_Number_Needed_to_Treat Decreased Number Needed to Treat (NNT) is a Refining Value that descrbies a digital medicine or therapeutic application's influence on decreasing the number needed to treat, defined as the average number of patients who need to be treated to prevent one additional bad outcome. Although this is commonly a measure of effectiveness of an intervention, the concept for digital medicine may be associated with a digital medicine application's accuracy in identifying individuals with a given disease and thereby effecting number needed to treat. decreased number needed to treat doves-ontology:Decreased_Proportion_of_Indeterminate_Results Decreased Proportion of Indeterminate Results is a measure of Increased Accuracy that describes a decreased proportion of results from the use of a digital medicine application are indeterminate. decreased proportion of indeterminate results doves-ontology:Decreased_Sleep_Interruption_Outcome decreased sleep interruption outcome doves-ontology:Decreased_Sleep_Latency_Outcome decreased sleep latency outcome doves-ontology:Decreased_Specialty_Care_Encounter_Rate_Outcome decreased specialty care encounter rate outcome A Decreased Specialty Care Encounter Rate Outcome is a Modified Specialty Care Outcome that is influenced by digital medicine applications that decrease inappropriate healthcare utilization in medical specialties. doves-ontology:Depression_Control depression control outcome A Depression Control Outcome is a Menopause Symptom Control Outcome that describes the influence of a digital medicine application on depression control related to menopause doves-ontology:Depression_Control_Outcome depression control outcome A Depression Control Outcome is a Symptom Control Outcome that describes the influence of a digital medicine application on depression control. doves-ontology:Diabetic_Retinopathy_Exam_Outcome HEDIS diabetic retinopathy exam outcome A HEDIS Diabetic Retinopathy Exam Outcome is a HEDIS Measure Diabetes Care Outcome which measures the percentage of individuals who have had a comprehensive eye exam to screen or monitor for diabetic retinal disease, and includes those patients who have had: a retinal or dilated eye exam by an optometrist or ophthalmologist in the measurement year. a negative retinal or dilated eye exam (negative for retinopathy) by an optometrist or ophthalmologist in the year prior to the measurement year. bilateral eye enucleation any time during the member’s history through the measurement year. doves-ontology:Dietary_Adherence_Outcome Dietary Adherence Outcome is a Lifestyle Adherence Outcome that describes the influence of a digital medicine application on an individual's adherence to and/or tracking of dietary recommendations (e.g. adherence to a diabetic diet). dietary adherence outcome doves-ontology:Digital_Health_Application A Digital Health Application includes technologies, platforms, and systems that engage consumers for lifestyle, wellness, and health-related purposes; capture, store, or transmit health data; and/or support life science and clinical operations. Digital Health applications typically do not require clinical evidence, and do not meet the regulatory definition of a medical device and do not require regulatory oversight. digital health application A Digital Health Application includes technologies, platforms, and systems that engage consumers for lifestyle, wellness, and health-related purposes; capture, store, or transmit health data; and/or support life science and clinical operations. Digital Health applications typically do not require clinical evidence, and do not meet the regulatory definition of a medical device and do not require regulatory oversight. doves-ontology:Digital_Health_Assessment_Framework_Certification_Outcome digital medicine assessment framework (DHAF) certification outcome A digital medicine Assessment Framework (DHAF) Certification Outcome is a Digital Medicine Assessment Certification Outcome that describes a comprehensive set of criteria intended to identify high-quality, safe and effective digital medicine tools (or apps). The criteria are organized into four domains: 1. Data & Privacy Adherence to federal laws designed to protect the rights and freedoms of individuals. A deeper dive into laws that are specific to individual products, such as the need for HIPAA compliance and COPPA Clinical Assurance & Safety Is the app safe and effective, based on evidence requirements related to the complexity of the app? Does the content draw on high-quality clinical guidelines (including ACP Clinical Guidelines, USPSTF Guidelines, and similar) or other respected sources? For patient safety, is the app a medical device as outline by FDA digital medicine Requirements? View more details about the clinical assurance & safety process. 2. Usability & Accessibility 3. Design and development; accessibility; usability; user support Compliance with design standards Technical Security & Stability 4. App was built in compliance with the secure coding practice guidelines of the OWASP (Open Web Application Security Project) A digital medicine Assessment Framework (DHAF) Certification Outcome is a Digital Medicine Assessment Certification Outcome that describes a comprehensive set of criteria intended to identify high-quality, safe and effective digital medicine tools (or apps). The criteria are organized into four domains: 1. Data & Privacy Adherence to federal laws designed to protect the rights and freedoms of individuals. A deeper dive into laws that are specific to individual products, such as the need for HIPAA compliance and COPPA Clinical Assurance & Safety Is the app safe and effective, based on evidence requirements related to the complexity of the app? Does the content draw on high-quality clinical guidelines (including ACP Clinical Guidelines, USPSTF Guidelines, and similar) or other respected sources? For patient safety, is the app a medical device as outline by FDA digital medicine Requirements? View more details about the clinical assurance & safety process. 2. Usability & Accessibility 3. Design and development; accessibility; usability; user support Compliance with design standards Technical Security & Stability 4. App was built in compliance with the secure coding practice guidelines of the OWASP (Open Web Application Security Project) doves-ontology:Digital_Medicine_Assessment_Certification_Outcome digital medicine assessment certification outcome Digital Medicine Assessment Certification Outcome is a Product Performance Non-Clinical Outcome that describes whether a digtial medicine application has been evaluated under the framework and passed a dedicated digital medicine or digital medicine assessment. Many frameworks currently exist including the Digitial Technology Assessment Criteria, the digital medicine Assessment Framework, and others. doves-ontology:Digital_Technology_Assessment_Criteria_Certification_Outcome digital technology assessment criteria certification outcome A Digital Technology Assessment Criteria Certification (DTAC) Outcome is a Digital Medicine Assessment Certification Outcome which brings together legislation and good practice for clinical safety, data protection, technical security, interoperability, and usability and accessibility standards for the National Health Service (NHS) in England. It is the national baseline criteria for digital medicine technologies entering and already used in the NHS and social care. The DTAC is designed to be used by healthcare organizations to assess suppliers at the point of procurement or as part of a due diligence process, to make sure digital technologies meet our minimum baseline standards. For developers, it sets out what is expected for entry into the NHS and social care. A Digital Technology Assessment Criteria Certification (DTAC) Outcome is a Digital Medicine Assessment Certification Outcome which brings together legislation and good practice for clinical safety, data protection, technical security, interoperability, and usability and accessibility standards for the National Health Service (NHS) in England. It is the national baseline criteria for digital medicine technologies entering and already used in the NHS and social care. The DTAC is designed to be used by healthcare organizations to assess suppliers at the point of procurement or as part of a due diligence process, to make sure digital technologies meet our minimum baseline standards. For developers, it sets out what is expected for entry into the NHS and social care. doves-ontology:Digital_Therapeutic_Application A digital Therapeutic Application is health software intended to treat or alleviate a disease, disorder, or injury by generating and delivering a medical intervention that has a demonstrable positive therapeutic impact on a patient's health. ISO /TR11147:2023(en) It can also be considered to be a digital product that delivers evidence-based therapeutic intervention to prevent, manage, or treat a medical disorder or condition. Digital Therapeutic applications typically require clinical evidence and real world outcomes and must be reviewed and cleared by regulatory bodies as required to support product claims of risk, efficacy, and intended use. digital therapeutic application A digital Therapeutic Application is health software intended to treat or alleviate a disease, disorder, or injury by generating and delivering a medical intervention that has a demonstrable positive therapeutic impact on a patient's health. ISO /TR11147:2023(en) It can also be considered to be a digital product that delivers evidence-based therapeutic intervention to prevent, manage, or treat a medical disorder or condition. Digital Therapeutic applications typically require clinical evidence and real world outcomes and must be reviewed and cleared by regulatory bodies as required to support product claims of risk, efficacy, and intended use. doves-ontology:Disease_Course_Modification_Outcome disease course modification outcome A Disease Course Modification Outcome is a Health Benefit Outcome that reflects a digital medicine tool's ability to modify the course of a disease. doves-ontology:Disease_Course_Outcome disease course insight outcome A Disease Course Insight Outcome is a Health Benefit Outcome that describes the ability to better understand the course or natural progression of a disease, including sugns and symptoms, that subsequently facilitates better management insights and options. doves-ontology:Economic_Value_from_Digital_Medicine_Billing_Codes_Outcome Economic Value from Digital Medicine Billing Codes Outcome is a Healthcare Economic Outcome that reflects the degree to which billing codes (e.g. CPT or remote patient monitoring billing codes) are used to capture reimbursement. economic value from digital medicine billing codes outcome An Economic Value from Digital Medicine Billing Codes Outcome is a Healthcare Economic Outcome that describes the influence a digital medicine application has on the economic return to the health system of billing codes that can be utilized for care provided. doves-ontology:Electronic_Health_Record_Integration_Outcome EHR integration EHR Integration is a Refining Value that describes the types of electronic health record (EHR) platforms with which the digital health application integrates, including "not applicable" or "none." doves-ontology:Emergency_Department Emergency Department is a Setting for which a digital medicine or therapeutic product may be designed, and is described as a hospital facility that is staffed 24 hours a day, 7 days a week, and provides unscheduled outpatient services to patients whose condition requires immediate care. Source: https://www.cdc.gov/nchs/hus/sources-definitions/emergency-department.htm emergency department setting doves-ontology:Employee_Burnout_Reduction_Outcome healthcare employee burnout reduction outcome A Healthcare Employee Burnout Reduction Outcome is a Healthcare Operation Outcome which aims to reduce burnout by changing lifestyle habits and optimizing work-life balance. A Healthcare Employee Burnout Reduction Outcome is a Healthcare Operation Outcome which aims to reduce burnout by changing lifestyle habits and optimizing work-life balance. doves-ontology:Ethnicity ethnicity Ethnicity is a Refining Value defined according to the United States Census Bureai Aug 4, 2021 https://www.census.gov/newsroom/blogs/random-samplings/2021/08/measuring-racial-ethnic-diversity-2020-census.html doves-ontology:Exercise_Adherence_outcome Exercise Adherence Outcome is a Lifestyle Adherence Outcome that describes a digital medicine application's influence on an individual adhering to and/or tracking a recommended exercise regimen. exercise adherence outcome doves-ontology:FDA FDA approval status is a regulatory approval status indicating that the Food and Drug Administation (FDA) of the United States indicating that agency has determined that the benefits of the product outweigh the risks for the intended use. Source: https://www.fda.gov/consumers/consumer-updates/it-really-fda-approved FDA approval status doves-ontology:FDA_Approved FDA Approved is an FDA Approval category meaning a product is determined by the agency to be safe and effective for the intended use, and that it can be manufactured to federal quality standards. If the FDA grants an approval, it means the agency has determined that the benefits of the product outweigh the risks for the intended use. Source: https://www.fda.gov/consumers/consumer-updates/it-really-fda-approved FDA approved doves-ontology:FDA_Cleared FDA Cleared is a FDA Approval category indicating that the FDA has allowed a product to go to market through the 510(k) process based on substantial equivalence to a legally marketed predicate device. "FDA Cleared" is a lower standard than "FDA Approved", and in many cases the product is cleared because it is similar to an existing product, rather than that it has passed rigorous independent safety trials. FDA cleared doves-ontology:FDA_Granted FDA Granted is an FDA Approval category describing medical devices using the De Novo process that are Granted approval by FDA before they can be legally marketed in the United States. FDA granted doves-ontology:Family_and_Caregiver_Outcome family and caregiver outcome Family and Caregiver Outcome is a Healthcare Outcome that describes a digital medicine application's outcome that is an outcome for a family or caregiver of a patient, but not necessarily for the patient him or herself. doves-ontology:Five-Star_Quality_Rating_System_Outcome Five-Star Quality Rating System Outcome is a Healthcare Quality of Care Outcome that helps consumers, their families, and caregivers compare nursing homes more easily and to help identify areas about which they may want to ask questions. Source: https://www.cms.gov/Medicare/Provider-Enrollment-and-Certification/CertificationandComplianc/FSQRS Five-Star quality rating system outome doves-ontology:Five_Nines_Availability_Outcome Five Nines Availability Outcome is a System Availability Outcome that describes a digital medicine application's availability 99.999% of the time in a given year. five nines availability outcome doves-ontology:Five_Year_Survival_Outcome five year survival outcome A Five Year Survival Outcome is a Cancer Outcome used to quantify the survival rates of certain types of cancer for a 5 year timeframe. A Five Year Survival Outcome is a Cancer Outcome used to quantify the survival rates of certain types of cancer for a 5 year timeframe. doves-ontology:Formulary_Transparency_Outcome formulary transparency outcome Formulary Transparency Outcome is a Patient/Family Education Outcome that reflects a digital medicine application's ability to make items on a formulary visible to patients and families. doves-ontology:Four_Nines_Availability_Outcome Four Nines Availability Outcome is a System Availability Outcome that describes a digital medicine application's availabilkity 99.99% of the year. four nines availability outcome doves-ontology:Friend_or_Peer_Role Friend or Peer Role is a Role describing a friend or peer of a patient as a user type of a digital medicine or digital therapeutic application. friend or peer role doves-ontology:GDPR_Compliance_Outcome GDPR compliance outcome GPDR Compliance Outcome is a Cybersecurity and Privacy Outcome that describes whether a digital medicine application complies with the General Data Protection Regulation GPDR Compliance Outcome is a Cybersecurity and Privacy Outcome that describes whether a digital medicine application complies with the General Data Protection Regulation doves-ontology:HEDIS_Diabetes_Blood_Pressure_Control_Outcome HEDIS diabetes blood pressure control outcome A HEDIS Diabetes Blood Pressure Control Outcome is a HEDIS Measure Diabetes Care Outcome that measures the percentage of individuals who’ve had a blood pressure control test (<140/90 mm Hg). doves-ontology:HEDIS_Diabetic_Nephropathy_Screening_Outcome HEDIS diabetic nephropathy exam screening outcome A HEDIS Diabetic Nephropathy Exam Screening Outcome is a HEDIS Measure Diabetes Care Outcome that measures the percentage of individuals who have had a test to check for deterioration of kidney function. This is commonly performed by performing a urine test to screen for microalbuminuria. doves-ontology:HEDIS_HbA1c_Control HEDIS HbA1c control outcome A HEDIS HbA1c Control Outcome is a HEDIS Measure Diabetes Care Outcome which measures the percentage of individuals who’ve had an HbA1c test during that year that demonstrates good control. Measures the percentage of individuals who have HbA1C in control, defined as <8%. Measures the percentage of individuals who are in Poor control, defined by HbA1ct >9.0% doves-ontology:HIE_Integration HIE Integration is a Refining Value that describes a digital medicine application's integration with Health Information Exchanges (HIEs). health information exchange integration HIE integration doves-ontology:HL7_Access_Outcome HL7 access outcome HL7 Access Outcome is an Interoperability Outcome that describes whether a digital medicine application adheres to HL& standards for the transfer of clinical and administrative data between applications. HL7 Access Outcome is an Interoperability Outcome that describes whether a digital medicine application adheres to HL& standards for the transfer of clinical and administrative data between applications. doves-ontology:Headache_Control_Outcome Headache Control Outcome is a Pain Control Outcome that describes the influence of a digital medicine or therapeutic application on headache. headache control outcome doves-ontology:Health_Literacy_Outcome health literacy outcome Personal health literacy is the degree to which individuals have the ability to find, understand, and use information and services to inform health-related decisions and actions for themselves and others. Organizational health literacy is the degree to which organizations equitably enable individuals to find, understand, and use information and services to inform health-related decisions and actions for themselves and others. Personal health literacy is the degree to which individuals have the ability to find, understand, and use information and services to inform health-related decisions and actions for themselves and others. Organizational health literacy is the degree to which organizations equitably enable individuals to find, understand, and use information and services to inform health-related decisions and actions for themselves and others. doves-ontology:Healthcare_Access_Outcome healthcare access outcome A Healthcare Access Outcome is a Healthcare Operation Outcome that reflects the effect that a digital medicine application may have on increasing access to healthcare or healthcare services. doves-ontology:Healthcare_Provider_Reported_Outcome healthcare provider reported outcome A Healthcare Provider Reported Outcome is a Healthcare Outcome that describes a digital medicine application's ability to capture healthcare provider reported outcomes. Unlike patient reported outcomes that rely exclusively on a patient's input to complete, a healthcare provider reported outcome relies exclusively on a healthcare provider to complete. Commonly, these are composite scores derived from multipke, often objective inputs on a specific topic to which the healthcare provider has access (e.g. quantitative range of motion) but to which the patient may not. Examples of clinician completed outcome measures in orthopedics can be seen here: https://www.orthopaedicscore.com/ doves-ontology:Healthcare_Quality_of_Care_Outcome Healthcare Quality of Care Outcome is a Healthcare Outcome that describes a digital medicine application's ability to either influence or to track/report on healthcare quality measures. healthcare quality of care outcome doves-ontology:Healthcare_System_Navigation_Outcome healthcare system navigation outcome Healthcare System Navigation Outcome is a Family and Caregiver Outcome that describes a digital medicine application's influence on assisting family or caregivers navigate (physically, administratively, financially, etc.) the complexity of the healthcare system. doves-ontology:Healthy_Eating_Index_Score_Outcome healthy eating index score outcome The Healthy Eating Index (HEI) Outcome is a Dietary Adherence Outcome that is a measure of diet quality used to assess how well a set of foods aligns with key recommendations of the Dietary Guidelines for Americans. The Dietary Guidelines for Americans is designed for nutrition and health professionals to help individuals and families to consume a healthful and nutritionally adequate diet. The HEI uses a scoring system to evaluate a set of foods. The scores range from 0 to 100. An ideal overall HEI score of 100 reflects that the set of foods aligns with key dietary recommendations from the Dietary Guidelines for Americans. https://www.fns.usda.gov/healthy-eating-index-hei doves-ontology:Hispanic_or_Latino Hispanic or Latino is an Ethnicity that describes people who are descended from Spanish-speaking populations. People who identify their origina as Hispanic, Latino, or Spanish may be of any race. Source: https://www.nih.gov/nih-style-guide/race-national-origin#:~:text=Hispanic,may%20be%20of%20any%20race. hispanic or latino doves-ontology:Hot_Flashes_Control hot flashes control outcome A Hot Flashes Control Outcome is a Menopause Symptom Control Outcome that describes the influence of a digital medicine application on hot flashes, which are random, sudden feelings of warmth in the body. doves-ontology:Hybrid_Healthcare_Provider-Patient_Reported_Outcome hybrid healthcare Provider-Patient reported outcome doves-ontology:ICU_Bounce_Back_Outcome ICU Bounce Back Outcome is a Bed Control Outcome that describes a digital medicine or therapeutic application's influence on decreasing the rate at which patients who have transferred out of the ICU to a lower level of care, end up back in the ICU within a given period of time. ICU bounce back outcome doves-ontology:IEC_60601_Testing_Compliance_Outcome IEC 60601 Compliance Outcome is a Technical Certification Outcome that is a standard for the basic safety and essential performance of medical electrical equipment. Source: https://www.ul.com/services/iec-60601-testing-and-certification IEC 60601 compliance outcome doves-ontology:ISO_13485_Certification_Outcome ISO 13485 certification outcome An ISO 13485 Certification Outcome is a Technical Certification Outcome that describes a standard of the International Organization for standards pertaining to medical devices- quality management systems - requirements for regulatory purposes. https://www.iso.org/standard/59752.html ISO 13485:2016 specifies requirements for a quality management system where an organization needs to demonstrate its ability to provide medical devices and related services that consistently meet customer and applicable regulatory requirements. Such organizations can be involved in one or more stages of the life-cycle, including design and development, production, storage and distribution, installation, or servicing of a medical device and design and development or provision of associated activities (e.g. technical support). ISO 13485:2016 can also be used by suppliers or external parties that provide product, including quality management system-related services to such organizations. doves-ontology:ISO_27001_Certification_Outcome ISO 27001 certification outcome ISO/IEC 27001 Certification Outcome ISO 27001 Certification Outcome is a Cybersecurity and Privacy Outcome that describes whether a digital medicine application has ISO/IEC 27001 certification. ISO 27001 is an international standard to manage information security. The standard was originally published jointly by the International Organization for Standardization and the International Electrotechnical Commission in 2005, revised in 2013, and again most recently in 2022. ISO 27001 Certification Outcome is a Cybersecurity and Privacy Outcome that describes whether a digital medicine application has ISO/IEC 27001 certification. ISO 27001 is an international standard to manage information security. The standard was originally published jointly by the International Organization for Standardization and the International Electrotechnical Commission in 2005, revised in 2013, and again most recently in 2022. doves-ontology:ISO_9241-210_Certification_Outcome ISO 9241-210 certification outcome An ISO 9241-210 Certification Outcome is a Human Factors and Usability outcome that indicates a product's certification to the International Organization for Standardization's Ergonomics for human-system interaction Part 210 Human-centered design for interactive systems. An ISO 9241-210 Certification Outcome is a Human Factors and Usability outcome that indicates a product's certification to the International Organization for Standardization's Ergonomics for human-system interaction Part 210 Human-centered design for interactive systems. doves-ontology:Improvement_in_Pittsbrgh_Sleep_Quality_Index_Outcome pittsburgh sleep quality index outcome An Improvement in Pittsburge Sleep Quality Index (PSQI) Outcome is a Sleep Disorder Symptom Scale Outcomes which describes a 19-item, self-rated questionnaire designed to measure sleep quality and disturbance over the past month in clinical populations.17 The 19 items are grouped into 7 components, including (1) sleep duration, (2) sleep disturbance, (3) sleep latency, (4) daytime dysfunction due to sleepiness, (5) sleep efficiency, (6) overall sleep quality, and (7) sleep medication use. Each of the sleep components yields a score ranging from 0 to 3, with 3 indicating the greatest dysfunction. The sleep component scores are summed to yield a total score ranging from 0 to 21 with the higher total score (referred to as global score) indicating worse sleep quality. An Improvement in Pittsburge Sleep Quality Index (PSQI) Outcome is a Sleep Disorder Symptom Scale Outcomes which describes a 19-item, self-rated questionnaire designed to measure sleep quality and disturbance over the past month in clinical populations.17 The 19 items are grouped into 7 components, including (1) sleep duration, (2) sleep disturbance, (3) sleep latency, (4) daytime dysfunction due to sleepiness, (5) sleep efficiency, (6) overall sleep quality, and (7) sleep medication use. Each of the sleep components yields a score ranging from 0 to 3, with 3 indicating the greatest dysfunction. The sleep component scores are summed to yield a total score ranging from 0 to 21 with the higher total score (referred to as global score) indicating worse sleep quality. doves-ontology:Improvement_in_Sleep_Disturbance_Scale_for_Children_Outcome sleep disturbance scale for children outcome The Sleep Disturbance Scale for Children Outcome is a Sleep Disorder Symptom Scale Outcome that consists of a 27-item scale to evaluate sleep specific disorders in children and to provide an overall measure of sleep disturbance suitable for use in clinical screening and research. The Sleep Disturbance Scale for Children Outcome is a Sleep Disorder Symptom Scale Outcome that consists of a 27-item scale to evaluate sleep specific disorders in children and to provide an overall measure of sleep disturbance suitable for use in clinical screening and research. doves-ontology:Improvement_in_Sleep_Quality_Scale_Outcome sleep quality scale outcome Sleep Quality Scale Outcome is a Sleep Disorder Outcome that describes a 28-item patient survey on six domains including: daytime symptoms, restoration after sleep, problems iniating and maintaining sleep, difficulty waking, and sleep satisfaction. Sleep Quality Scale Outcome is a Sleep Disorder Outcome that describes a 28-item patient survey on six domains including: daytime symptoms, restoration after sleep, problems iniating and maintaining sleep, difficulty waking, and sleep satisfaction. doves-ontology:Improvement_in_Trauma_Related_Nightmare_Symptoms_Outcome trauma related nightmare survey outcome The Trauma Related Nightmare Survey Outcome is a Sleep Disorder Symptom Scale Outcome consisting of a 16-item survey to measure and track sleep and nightmare related information, including nightmare frequency, nightmare severity, skeep onset and maintenance, and subjective emotions on awakening. The Trauma Related Nightmare Survey Outcome is a Sleep Disorder Symptom Scale Outcome consisting of a 16-item survey to measure and track sleep and nightmare related information, including nightmare frequency, nightmare severity, skeep onset and maintenance, and subjective emotions on awakening. doves-ontology:Improving_Healthcare_Team_Communication_Outcome improving healthcare team communication outcome An Improving Healthcare Team Communication Outcome is a Healthcare Operation Outcome that is influenced by digital medicine applications that facilitate and improve communications among healthcare providers. doves-ontology:Improving_Transitions_in_Care_Outcome improving transitions in care outcome An Improving Transitions in Care Outcome is a Healthcare Operations Outcome that is influenced by digital medicine applications that facilitate transitions in care such as discharge from the hospital, hand-offs from one healthcare provider to another, or transitions between acute or post-acute healthcare facilities. doves-ontology:Increased_Cardiology_Diagnostic_Procedure_Throughput_Outome Increased Cardiolology Diagnostic Procedure Throughput Outcome is an Increased Diagnostic Throughput Outcome that reflects a digital medicine or therapeutic application's effect on increasing the number of cardiology diagnostic tests that can be performend per unit of time or person-time. increased cardiology diagnostic procedure throughput outome doves-ontology:Increased_Discharge_to_Home_from_ED_Outcome increased discharge to home from ED outcome Increased Discharge to Home from ED Outcome is a Reduced Emergwency Department Utilization Outcome that describes a digital medicine application's influence over increasing the rate at which patients are discharged to home from the emergency department relative to the rate at which they have other dispositions (e.g. admitted to the hospital, placed on hold, placed on observation status, etc.) doves-ontology:Increased_Echocardiography_Diagnostic_Throughput_Outcome Increased Echocardiography Throughput Outcome is an Increased Cardiolopgy Diagnostic Procedure Throughput Outcome that describes a digital medicine or therapeutic application's effect on increasing the throughput of echocardiolgraphy tests, interpretations, or reads. increased echocardiography throughput outcome doves-ontology:Increased_Electroencephalography_Throughput_Outcome Increased Electroencephalography Throughput Outcome is an Increased Neurology Diagnostoc Procedure Throughput Outcome that describes a digital medicine or therapeutics application's ability to increase the throughput of electroencephalography procedures. increased electroencephalography throughput outcome doves-ontology:Increased_Electromyography_Throughput_Outcome Increased Electromyography Throughput Outcome is an Increased Neurology Diagnostoc Procedure Throughput Outcome that dscreibed a digital medicine or therapeutics application's ability to increase the throughput of electromyographic procedures. increased electromyography throughput outcome doves-ontology:Increased_Lumbar_Puncture_Throughput_Outcome Increased Lumbar Puncture Throughput Outcome is an Increased Neurology Diagnostic Procedure Throughput Outcome that reflects a digital medicine or therapeutics aplication to increase the throughput associated with lumbar puncture procedures. increased lumbar puncture throughput outcome doves-ontology:Increased_Magnetic_Resonance_Imaging_Throughput_Outcome Increased Magnetic Resonance Imaging Throughput Outcome is an Increased Radiology Throughput Outcome that reflects a digital medicine or therapeutic application's effect on increasing the number of magnetic resonance imaging tests and reads that can be performend per unit of time or person-time. increased magnetic resonance imaging throughput outcome doves-ontology:Increased_Neurology_Diagnostic_Procedure_Throughput_Outcome Increased Neurology Diagnostic Procedure Throughput Outcome is an Increased Diagnostic Throughput Outcome that reflects a digital medicine or therapeutic application's effect on increasing the number of neurology diagnostic tests that can be performend per unit of time or person-time. increased neurology diagnostic procedure throughput outcome doves-ontology:Increased_Nuclear_Medicine_Diagnostic_Throughput_Outcome Increased Nuclear Medicine Throughput Outcome is an Increased Diagnostic Throughput Outcome that reflects a digital medicine or therapeutic application's effect on increasing the number of nuclear medicine tests and reads that can be performend per unit of time or person-time. increased nuclear medicine diagnostic throughput outcome doves-ontology:Increased_Nuclear_Stress_Test_Throughput_Outcome An Increased Nuclear Stress Test Throughput Outcome is an Increased Nuclear Medicine Diagnostic Throughput Outcome that describes a digital medicine application's influence on increasing the throughput on cardiac nuclear stress testing. increased nuclear stress test throughput outcome doves-ontology:Increased_Radiology_Throughput_Outcome Increased Radiology Throughput Outcome is an Increased Diagnostic Throughput Outcome that reflects a digital medicine or therapeutic application's effect on increasing the number of radiological tests and reads that can be performend per unit of time or person-time. increased radiology diagnostic throughput outcome doves-ontology:Increased_Rate_of_Return_to_Work_Outcome increased rate of return to work outcome An Increased Rate of Return to Work Outcome is a Patient Socioeconomic Outcome that reflects the effect of a digital medicine application's influence on increased work pressenteeism through improvement of health. doves-ontology:Increased_Revenue_Outcome increased revenue outcome An Increased Revenue Outcome is a Healthcare Economic Outcome describing a digital medicine application's influence on the positive gains in earnings related to healthcare. doves-ontology:Increased_Sleep_Quantity_Outcome increased sleep quantity outcome doves-ontology:Increased_Specialty_Care_Encounter_Rate_Outcome increased specialty care encounter rate outcome An Increased Specialty Care Encounter Rate Outcome is a Modified Specialty Care Outcome that is influenced by digital medicine applications that increase appropriate healthcare utilization in medical specialties. doves-ontology:Increased_Speed_of_Return_to_Work_Outcome increased speed of return to work outcome An Increased Speed of Return to Work Outcome is a Patient Socioeconomic Outcome that reflects the effect of a digital medicine application's influence on increasing how quickly a patient can recover and return to work. doves-ontology:Increased_Treadmill_Stress_Test_Throughput_Outcome Increased Treadmill Stress Test Throughput Outcome is an Increased Cardiology Diagnostic Procedure Throughput Outcome that describes a digital medicine or therapeutic application's effect on increasing the throughput of treadmill stress test, interpretation, or reads. doves-ontology:Increased_Treatment_Throughput_Outcome increased treatment throughput outcome An Increased Treatment Throughput Outcome is a Healthcare Operation Outcome that reflects higher patient or treatment throughput relative to current or other forms of care. doves-ontology:Increased_Ultrasonography_Throughput_Outcome Increased Ultrasonography Throughput Outcome is an Increased Radiology Throughput Outcome that reflects a digital medicine or therapeutic application's effect on increasing the number of ultrasound imaging tests and reads that can be performend per unit of time or person-time. increased ultrasonography throughput outcome doves-ontology:Increased_XRay_Throughput_Outcome Increased XRay Throughput Outcome is an Increased Radiology Diagnostic Throughput Outcome that describes a digital medicine application's ability to increase the throughput of xray imaging. increased XRay throughput outcome doves-ontology:Infant_Age_Group infant age group Infant Age Group is a Pediatric Age Group defined by the NIH as those individuals 1 month to 1 year old. https://www.nih.gov/nih-style-guide/age doves-ontology:Informed_Outcome informed outcome The Informed Outcome is a Patient/Family Education Outcome that measures the degree to which the respondent feels informed about their medical care or treatment. doves-ontology:Inpatient Acute Care Hospital is a Setting for which a digital medicine or therapeutic product may be designed, and is defined as a short-term hospital that has facilities, medical staff and all necessary personnel to provide diagnosis, care and treatment of a wide range of acute conditions, including injuries. Source: https://portal.ct.gov/-/media/OHS/ohca/HospitalStudy/HospTodaypdf.pdf?la=en acute care hospital setting doves-ontology:Insomnia_Control_Outcome insomnia control outcome An Insomnia Control Outcome is a Symptom Control Outcome that describes the influence of a digital medicine application on insomnia control. doves-ontology:Insomnia_Sign_Control_Outcome insomnia sign control outcome doves-ontology:Insomnia_Symptom_Control_Outcome improvement in insomnia symptom control outcome doves-ontology:Intesive_Care_Unit Intensive Care Unit is an Acute Care Hospital Setting defined as the setting in which care is provided to patients who are hospitalized and critically ill in which intensive and specialized medical and nursing care, an enhanced capacity for monitoring, and multiple modalities of physiologic organ support to sustain life during a period of life-threatening organ system insufficiency are available. Interventions may include but are not limited to invasive monitoring, ventilatory support, and vasopressor support. Source: https://pubmed.ncbi.nlm.nih.gov/27612678/ intensive care unit (ICU) doves-ontology:Irritable_Bowel_Syndrome_Symptom_Control_Outcome irritable bowel syndrome symptom control outcome An Irritable Bowel Syndrome Symptom Control Outcome is a Symptom Control Outcome that describes the influence of a digital medicine application on irritable bowel syndrome (IBS). doves-ontology:JSON_API_Standard_Outcome JSON API Standard Outcome is a Data Standards Outcome that is a specification for how a client should request that resources be fetched or modified, and how a server should respond to those requests. JSON:API can be easily extended with extensions and profiles. Source: https://jsonapi.org/format/#:~:text=JSON%3AAPI%20is%20a%20specification,extended%20with%20extensions%20and%20profiles. JSON API standard outcome doves-ontology:Lifestyle_Adherence_Outcome lifestyle adherence outcome A Lifestyle Adherence Outcome is an Engagement and Adherence Outcome that describes adherence to lifestyle modifications including diet, exercise, smoking, alcohol consumption, etc. doves-ontology:Lipids_Intake_Adherence_Outcome Lipids Intake Adherence Outcome is a Dietary Adherence Outcome that describes the influence of a digital medicine application on an individual's adherence to and/or tracking of lipids intake (e.g. adherence to a low lipid diet). For example: https://www.ncbi.nlm.nih.gov/books/NBK218759/ lipids intake adherence outcome doves-ontology:Long_Term_Care_Hospital Long Term Care Hospital (LTCH) is a setting in which a digital medicine or digital therapeutic product may be used and is a setting certified as an acute‑care hospital. LTCHs focus on patients who, on average, stay more than 25 days. Many of the patients in LTCHs are transferred there from an intensive or critical care unit. Source: https://www.medicare.gov/Pubs/pdf/11347-Long-Term-Care-Hospitals.pdf long term care hospital setting doves-ontology:Machine_Learning_Technology Machine Learning Technology is a Technology that enables computer systems to learn and adapt without following explicit instructions, by using algorithms and statistical models to analyze and draw inferences from patterns in data. Source: Oxford Languages Dictionary. machine learning technology doves-ontology:Medical_Surgical_Unit A Medical-Surgical Unit is an Acute Care Hospital Setting defined as the setting in which care is provided to patients who are hospitalized with a wide variety of conditions that is the baseline level of care intensity relative to Step Down Units or Intensive Care Units. medical surgical unit doves-ontology:Medico-Legal_Outcomes Medico-Legal Outcome is a Healthcare Outcome that describes a digital medicine or therapeutic application's influence on medico-legal outcomes including, for example, malpractice clains, involvement of legal council, lawsuits, etc. medico-legal outcome doves-ontology:Middle-Age_Age_Group Middle-Age age group Middle Age Age Group is defined by Brittanica as those individuals between the ages of 40-60. https://www.britannica.com/science/middle-age doves-ontology:Modified_Ambulatory_Care_Encounter_Rate_Outcome modified ambulatory care encounter outcome A Modified Ambulatory Care Encounter Outcome is a Healthcare Utilization Outcome that is influenced by digital medicine applications that increase appropriate or decrease inappropriate healthcare utilization in ambulatory care. doves-ontology:Modified_Procedural_Encounter_Outcome modified procedural encounter rate outcome Modified Procedural Encounter Rate Outcome is a Healthcare Utilization Outcome that describes a digital medicine application's influence over the need for a potential procedure. If the digital medicine application results in a decreased need for a procedure, then this is an example of a decreased procedural encounter outcome. doves-ontology:Modified_Specialty_Care_Encounter_Rate_Outcome modified specialty care encounter rate outcome A Modified Specialty Care Encounter Rate Outcome is a Modified Ambulatory Care Outcome that is influenced by digital medicine applications that increase appropriate or decrease inappropriate healthcare utilization in medical specialties. doves-ontology:Multi-dimensional_Lifestyle_Adherence_Outcome Multi-dimensional Lifestyle Adherence Outcome is a Lifestyle Adherence Outcome that spans several dimensions such as diet, exercise, smoking cessation, alcohol cessation, and others. multi-dimensional lifestyle adherence outcome doves-ontology:Musculoskeletal_Control_Outcome musculoskeletal control outcome Musculoskeletal Control Outcome is a Sign Control Outcome that is specific to the musculoskeletal system. doves-ontology:NIST_800-53_Compliance_Outcome A NIST 800-53 Compliance Outcome is a Cybersecurity and Privacy Outcome that describes security and privacy controls for information systems and organizations. Source: https://csrc.nist.gov/pubs/sp/800/53/r5/upd1/final NIST 800-53 compliance outcome doves-ontology:Nephropathy_Control_Outcome Nephropathy Control Outcome is a Sign Control Outcome that reflects the control of damage to the nephrons of the kidney as often reflected in routine blood and urine tests. nephropathy control outcome doves-ontology:Neuropathy_Sign_Control Neuropathy Sign Control Outcome is a Sign Control Outcome that reflects the control of damage to the nerves. While is may be reflected in symptom control, it may also be measured objectively with studies such as EEG and EMG. neuropathy sign control doves-ontology:Night_Sweat_Control night sweat control outcome A Night Sweat Control Outcome is a Menopause Symptom Control Outcome that describes the influence of a digital medicine application on night sweats, which are hot flashes that occur at night. doves-ontology:Not_Hispanic_or_Latino Not Hispanic or Latino is an Ethnicity whose definition is the inverse of Hispanic or Latino. not hispanic or latino doves-ontology:Number_of_Downtime_Events number of downtime events outcome Number of Downtime Events Outcome is a System Availability Outcome that describes the number of times in a given time period that a digital medicine application is out of action or unavailable for use, whether scheduled or unscheduled. doves-ontology:Number_of_Issues_per_Release_Outcome Number of Issues per Release Outcome is an Issue Resolution Outcome that describes the number of issues filed per software release cycle. number of issues per release outcome doves-ontology:Number_of_Medical_Malpratcie_Claims_Outcome Number of Medical Malpractice Claims Outcome is a Medico-Legal Outcome that describes a digital medicine or therapeutic application's influence on the number of malpractice claims filed against a given number of healthcare providers or organizations, in a given trimeframe. doves-ontology:Occupational_Therapist_Role Occupational Therapist Role is a Clinician Role describing an occupational therapist as a user type of a digital medicine or digital therapeutic application. occupational therapist role doves-ontology:Offline_Availability_Outcome offline availability outcome Offline Availability Outcome is a Product Performance Non-Clinical Outcome that describes whether a digital medicine application is usable without being connected to a cellular, wireless, or wired system. Examples include apps that can be downloaded onto devices and used in a full featured manner without requiring connectivity. doves-ontology:Older_Adult_Age_Group older adult age group Older Adults are defined by the NIH and the National Institute on Aging as any individual 65 years and older. https://www.nih.gov/nih-style-guide/age doves-ontology:Overall_Hospital_Quality_Star_Rating Overall Hospital Quality Star Rating is a Healthcare Quality of Care Outcome that summarizes a variety of measures across 5 areas of quality into a single star rating for each hospital. Once reporting thresholds are met, a hospital’s Overall Star Rating is calculated using only those measures for which data are available. Source: https://data.cms.gov/provider-data/topics/hospitals/overall-hospital-quality-star-rating overall hospital quality star rating doves-ontology:Pain_Control_Outcome pain control outcome A Pain Control Outcome is a Symptom Control Outcome that describes the influence of a digital medicine application on pain control. doves-ontology:Patient_Appointment_Non-Self-Scheduling_Capability Patient Appointment Non-Self-Scheduling Capability is a Patient Appointment Scheduling Capability of a digital medicine or therapeutic application that conducts or assists with patient appointment scheduling, but does not allow or enable the patient to schedule for him/herself. patient appointment Non-Self-Scheduling capability doves-ontology:Patient_Socioeconomic_Outcome patient socioeconomic outcome Patient Socioeconomic Outcome is a Healthcare Outcome that describes the influence a digital medicine application has on factors associated with a patient's socioecnonomic status or situation. doves-ontology:Percent_of_Issues_Open_Outcome percent of issues open outcome A Percent of Issues Open Outcome is an Issue Resolution Outcome that describes the proportion of filed issues that are unresolved (open) in a given time frame. doves-ontology:Peroportion_of_Issues_of_each_Severity_Category_Outcome Proportion of Issues of each Severity Category Outcome is an Issue Resolution Outcome that describes the proportion of issues in each category of severity, based on a given severity rating scale for issues or bugs. Severity typically is concerned with whether an issue has a serious impact on the product and not necessarily how far that impact goes (as opposed to priority). Source: https://kissflow.com/issue-tracking/difference-between-bug-severity-and-priority/#:~:text=In%20essence%2C%20bug%20severity%20is,the%20system%20and%20other%20factors. proportion of issues of each severity category outcome doves-ontology:Pharmacist_Role Adminstrator Role is a Clinician Role describing a pharmacist as a user type of a digital medicine or digital therapeutic application. pharmacist role doves-ontology:Physical_Therapist_Role Physical Therapist Role is a Clinician Role describing a physical therapist as a user type of a digital medicine or digital therapeutic application. physical therapist role doves-ontology:Pittsburgh_Sleep_Quality_Index pittsburgh sleep quality index outcome The Pittsburgh Sleep Quality Index (PSQI) Outcome is a Patient Reported Outcome that is is a 19-item, self-rated questionnaire designed to measure sleep quality and disturbance over the past month in clinical populations.17 The 19 items are grouped into 7 components, including (1) sleep duration, (2) sleep disturbance, (3) sleep latency, (4) daytime dysfunction due to sleepiness, (5) sleep efficiency, (6) overall sleep quality, and (7) sleep medication use. Each of the sleep components yields a score ranging from 0 to 3, with 3 indicating the greatest dysfunction. The sleep component scores are summed to yield a total score ranging from 0 to 21 with the higher total score (referred to as global score) indicating worse sleep quality. The Pittsburgh Sleep Quality Index (PSQI) Outcome is a Patient Reported Outcome that is is a 19-item, self-rated questionnaire designed to measure sleep quality and disturbance over the past month in clinical populations.17 The 19 items are grouped into 7 components, including (1) sleep duration, (2) sleep disturbance, (3) sleep latency, (4) daytime dysfunction due to sleepiness, (5) sleep efficiency, (6) overall sleep quality, and (7) sleep medication use. Each of the sleep components yields a score ranging from 0 to 3, with 3 indicating the greatest dysfunction. The sleep component scores are summed to yield a total score ranging from 0 to 21 with the higher total score (referred to as global score) indicating worse sleep quality. doves-ontology:Pittsburgh_Sleep_Quality_Index_Addendum_for_PTSD pittsburgh sleep quality index addendum for PTSD (PTSD-A) outcome A Pittsburgh Sleep Quality Index Addendum for PTSD (PSQI-A) Outcome is a Patient Reported Outcome that is a self-report instrument designed to assess the frequency of seven disruptive nocturnal behaviors. A Pittsburgh Sleep Quality Index Addendum for PTSD (PSQI-A) Outcome is a Patient Reported Outcome that is a self-report instrument designed to assess the frequency of seven disruptive nocturnal behaviors. doves-ontology:Potassium_Intake_Adherence_Outcome Potassium Intake Adherence Outcome is a Dietary Adherence Outcome that describes the influence of a digital medicine application on an individual's adherence to and/or tracking of potassium intake (e.g. adherence to a low potassium diet). For example: https://www.kidney.org/sites/default/files/NKF_Guide_to_Low_Potassium_Diet_Final_0.pdf potassium intake adherence outcome doves-ontology:Prescription_Digital_Therapeutic_Application prescription digital therapeutic application doves-ontology:Progression_Free_Survival_Outcome progression free survival outcome A Progression Free Survival Outcome is a Cancer Outcomes that describes the length of time during and after the treatment of a disease, such as cancer, that a patient lives with the disease but it does not get worse. doves-ontology:Proportion_of_Days_Covered_Outcome proportion of days covered outcome A Proportion of Days Covered Outcome is a Medication Adherence Outcome that reflects the number of days supply a drug is dispensed for, divided by the number of days rhe prescription is in the patient's possession. doves-ontology:Proportion_of_Days_Per_Month_of_Medication_Use_Outcome proportion of days per month of medication use outcome Proportion of Days Per Month of Medication Use it a Medication Adherence Outcome that reflects the number of days supply a drug is dispensed for, divided by the number of days the prescription is actually taken by the patient. doves-ontology:Proportion_of_Issues_of_each_Priority_Outcome Proportion of Issues of Each Priority Outcome is an Issue Resolution Outcome that describes the proportion of issues in each category of priority, based on a given priority rating scale for issues or bugs. Priority typically is concerned with the order in which issues should be resolved based on their impact on the system and other factors (as opposed to severity). Source: https://kissflow.com/issue-tracking/difference-between-bug-severity-and-priority/#:~:text=In%20essence%2C%20bug%20severity%20is,the%20system%20and%20other%20factors. proportion of issues of each priority outcome doves-ontology:Psychologist_Role Psychologist Role is a Clinician Role describing a psychologist as a user type of a digital medicine or digital therapeutic application. psychologist role doves-ontology:Quality_of_Patient_Care_Star_Ratings_Outcome Quality of Patient Care Star Ratings Outcome is a Healthcare Quality of Care Outcome that describes a digital medicine application's influence on or ability to report/track Quality of Patient Care Star Ratings, a rating system using stars to represent performance of Home Health Agencies that is valuable to consumers. Star ratings can help consumers more quickly identify differences in quality and make use of the information when selecting a health care provider. In addition to summarizing performance, star ratings can also help home organizations identify areas for improvement. They are useful to consumers, consumer advocates, health care providers, and other stakeholders, when updated regularly to present the most current information available. Source: https://www.cms.gov/Medicare/Quality-Initiatives-Patient-Assessment-Instruments/HomeHealthQualityInits/Downloads/Quality-of-Patient-Care-Star-Ratings-Methodology_2019.pdf quality of patient care star ratings outcome doves-ontology:Range_of_Motion_Outcome A Range of Motion Outcome is a Musculoskeletal Control Outcome that describes the objective range of motion of a limb or body part. Range of motion, for example, may be commonly measured to assess progress with physical therapy. range of motion outcome doves-ontology:Rapid_Response_Event_Outcome A Rapid Response Event Outcome is a Critical Care Event Outcome, usually in a hospital setting, in which a Rapid Response Team is called urgently to the bedside to evaluate and stabilize a patient not currently in the Intensive Care Unit, but whose level of care may need to be changed to the Intensive Care Unit. Digital medicine and therapeutic applications may influence the rate of Rapid Response Events through early detection of impending signs and symptoms, enabling early intervention. rapid response event outcome doves-ontology:Reduced_Calendar_Year_Total_Cost_of_Care_Outcome reduced calendar year total cost of care outcome Reduced Calendar Year Total Cost of Care Outcome is a Reduced Costs Outcome that describes a digital medicine application's influence on reducing the total cost of care over a calendar year period. doves-ontology:Reduced_Costs_in_Medical_Malpractice_Claims_Paid_Outcome Reduced Costs in Medical Malpractice Claims Paid Outcome is a Reduced Costs Outcome that describes a digital medicine or therapeutic applicaiton's effect on reducing the amount of money paid due to medical malpractice claims. reduced costs in medical malpractice claims paid outcome doves-ontology:Reduced_Hypertensive_Emergency_Outcome reduced hypertensive urgency outcome A Reduced Hypertensive Urgency Outcome is a Blood Pressure Control Outcome which is improved by better long-term blood pressure control. Rapidly lowering the patient's blood pressure does not show much benefit, whereas starting them on oral hypertensives that slowly lower their blood pressure over 24-48 hours shows some benefit. A Reduced Hypertensive Urgency Outcome is a Blood Pressure Control Outcome which is improved by better long-term blood pressure control. Rapidly lowering the patient's blood pressure does not show much benefit, whereas starting them on oral hypertensives that slowly lower their blood pressure over 24-48 hours shows some benefit. doves-ontology:Reduced_Hypertensive_Urgency_Outcome reduced hypertensive urgency outcome A Reduced Hypertensive Urgency Outcome is a Blood Pressure Control Outcome which is improved by better long-term blood pressure control. Rapidly lowering the patient's blood pressure does not show much benefit, whereas starting them on oral hypertensives that slowly lower their blood pressure over 24-48 hours shows some benefit. A Reduced Hypertensive Urgency Outcome is a Blood Pressure Control Outcome which is improved by better long-term blood pressure control. Rapidly lowering the patient's blood pressure does not show much benefit, whereas starting them on oral hypertensives that slowly lower their blood pressure over 24-48 hours shows some benefit. doves-ontology:Reduced_Liftetime_Total_Cost_Outcome Reduced Lifetime Total Cost Outcome is a Rediced Costs Outcome that reflects reduction in health related costs over the lifetime of an individual. reduced lifetime total cost outcome doves-ontology:Reduced_Per_Member_Per_Month_Cost_Outcome reduced per member per month cost outcome A Reduced Per Member Per Month Cost Outcome is a Reduced Costs Outcome that shows a reduction in cost on a per member per month (PMPM) basis. doves-ontology:Reduced_Prescription_Drug_Cost_Outcome reduced prescription drug cost outcome A Reduced Prescription Drug Cost Outcome is a Reduced Costs Outcome that reflects a digital medicine application's influence on a patient's reduction in expenditure on prescription medication costs. doves-ontology:Reduced_Procedural_Cost_Outcome reduced procedural cost outcome Reduced Procedural Cost Outcome is a Reduced Episode Total Cost of Care Outcome that describes a digital medicine application's ability to reduce the cost of one or more procedures. doves-ontology:Reduced_Return_to_Higher_Level_of_Care_Outcome reduced return to higher level of care outcome Reduced Return to Higher Level of Care Outcome is a Healthcare Utilization Outcome that describes a digital medicine application's influence in reducing the rate at which patients who are sent to a lower level of care (e.g. intensive care unit to general hospital ward, or hospital to skilled nursing facility) return within a given time frame to a higher level of care. doves-ontology:Reduction_in_Acute_Medication_Day_Outcome Reduction in Acute Medication Day Outcome is a Symptom Control Outcome that describes the reduction in the number of days over a given timespan that acute "rescue" medications may be needed. Examples include reduced number of days requiring acute inhaler use for asthma, or acute medication use for migraine prophylaxis, etc. reduction in acute medication day outcome doves-ontology:Reduction_in_Falls_Outcome reduction in falls outcome A Reduction in Falls Outcome is a Sign Control Outcome related to the decrease in older individuals' prevalence of falls. A reduction in falls improves older individuals' quality of life and safety in their environment. A Reduction in Falls Outcome is a Sign Control Outcome related to the decrease in older individuals' prevalence of falls. A reduction in falls improves older individuals' quality of life and safety in their environment. doves-ontology:Regulatory_Approval Regulatory Approval is a Refining Value that refers to government regulated approval for safety and efficacy of a digital medicine application or software as a medical device. regulatory approval status doves-ontology:Regulatory_Category Regulatory Category is a Refining Value that describes in rough terms, the appropriate category label for a digital application that pertains to health, according to definitions proposed in the white paper put out November 7, 2019 by the Digital Medicine (DiME) Society, the Digital Therapeutics Alliance, HealthXL, and NODE.Health. Source: https://www.healthxl.com/blog/digital-health-digital-medicine-digital-therapeutics-dtx-whats-the-difference regulatory category doves-ontology:Resource_Utilization_Outcome resource utilization outcome Resource Utilization Outcome is a Healthcare Operation Outcome that describes a digital medicine application's ability to influence the efficiency or planning of resource utilization. doves-ontology:Retinopathy_Control_Outcome A Retinopathy Control Outcome is a Sign Control Outcome that reflects the control of damage to the retina. retinopathy control outcome doves-ontology:Return_on_Investment_Outcome return on investment outcome A Return on Investment Outcome is a Healthcare Economic Outcome that is reflected by a digital medicine application's ability to dteremine or influence the return on investment of the application itself, or of another application. doves-ontology:Self-efficacy self-efficacy outcome Self-efficacy Outcome is a Satisfaction Outcome that describes a person's belief in his or her abilities with respect to a digital medicine application. It is a good predictor of motivation and behavior. Self-efficacy Outcome is a Satisfaction Outcome that describes a person's belief in his or her abilities with respect to a digital medicine application. It is a good predictor of motivation and behavior. doves-ontology:Setting Setting is a Refining Value that describes the clinical setting for which a digital medicine or digital therapeutic application is intended. setting doves-ontology:Shared_Decision_Making shared decision making capability Shared Decision Making Capability is a Technical Capability Area that describes digital health applications that facilitate the shared decision making between a healthcare professional and a patient, family member, or friend of the patient. doves-ontology:Shared_Decision_Making_Outcome shared decision making outcome A Shared Decision Making Outcome is a Family and Caregiver Outcome that describes the involvement of a patient's support system in the decision making process regarding their care. doves-ontology:Sign_Control_Outcome sign control outcome Sign Control Outcome is a Health Condition Control Outcome that describes a digital medicine application's influence over signs of a health sate (objective findings) as opposed to sypmptoms of a health state (subjective experiences). doves-ontology:Site_of_Care_Shift_Outcome site of care shift outcome Site of Care Shift Outcome is a Healthcare Utilization Outcome that describes a digital medicine application's influence over shifting the site of care where a patient receives care. For example, if a digital medicine application is used to triage patients, it might shift care from an emergency department to an urgent care center, or might shift the site of care from in-person to remote or vice versa. doves-ontology:Skilled_Nursing_Facility Skilled Nursing Facility is a Setting for which a digital medicine or therapeutic product may be designed, defined as a facility providing 24-hour skilled nursing care as well as related or rehabilitative services in which the resident typically is a person who is chronically ill or recuperating from an illness or surgery and needs regular nursing care and other health related services. Each resident is under the care of a personal physician or the facility's medical director. Source: https://www.aging.ca.gov/Care_Options/Skilled_Nursing_Facilities/ skilled nursing facility doves-ontology:Sleep_Disorder_Sign_Control_Outcome sleep disorder control outcome A Sleep Disorder Control Outcome is a Sign Control Outcome that describes the influence of a digital medicine application on managing sleep disorders. doves-ontology:Sleep_Disorder_Symptom_Scale sleep disorder symptom scale outcome Sleep Disorder Symptom Scale Outcome is a Patient Reported Outcome that describes a number of patient reported outcomes measures for sleep disorders. doves-ontology:Smoking_Cessation_Adherence_Outcome Smoking Cessation Adherence Outcome is a Lifestyle Adherence Outcome that describes the influence of a digital medicine application on an individual's adherence to smoking cessation. smoking cessation adherence outcome doves-ontology:Soc_2_Type_1_Certification_Outcome SOC 2 Type 1 Certificaiton is a SOC 2 Certification Outcome that evaluates the design of the security controls at a point in time. SOC 2 type 1 certification outcome doves-ontology:Soc_2_Type_2_Certification_Outcome A Soc 2 Type 2 Certification Outcome is a SOC2 Certification Outcome that assesses how effective security controls are over time by observing operations for 3-12 months. Type 2 audits go further in-depth on the operating effectiveness of the controls with evidence. The results of SOC 2 Type 2 are more indicative of how securely the organization operates. SOC 2 type 2 certification outcome doves-ontology:Sodium_Intake_Adherence_Outcome Sodium Intake Adherence Outcome is a Dietary Adherence Outcome that describes the influence of a digital medicine application on an individual's adherence to and/or tracking of sodium intake recommendations (e.g. adherence to a low sodium diet). For example: https://health.gov/myhealthfinder/health-conditions/heart-health/lower-sodium-foods-shopping-list sodium intake adherence outcome doves-ontology:Staffing_Level_Outcome staffing level outcome Staffing Level Outcome is a Resource Utilization Outcome that describes a digital medicine application's ability to influence metrics related to staffing levels. doves-ontology:Symptom_Control_Outcome symptom control outcome A Symptom Control Outcome is a Health Condition Control Outcome that describes the influence of a digital medicine application on an individual's symptoms. doves-ontology:System_Usability_Scale_Outcome system usability outcome A System Usability Outcome is a Human Factors and Usability Outcome that describes and measures system usability. One metric for system usability is the System Usability Score. A System Usability Outcome is a Human Factors and Usability Outcome that describes and measures system usability. One metric for system usability is the System Usability Score. doves-ontology:Technical_Certification_Outcome technical certification outcome A Technical Certification Outcome is a Technical Outcome that describes whether a digital medicine application has achieved a given technical certification from a certifying body. doves-ontology:Three_Nines_Availability_Outcome Three Nines Availability Outcome is a System Availability Outcome that describes a digital medicine application's availability 99.9% of the time in a given year. three nines availability outcome doves-ontology:Time_in_Automation_Outcome Time in Automation Outcome is a Glycemic Control Outcome that reflects the percent of time that an automated insulin delivery system is in automation mode. time in automation outcome Time in Automation Outcome is a Glycemic Control Outcome that describes the amount of time that a continuous blood glucose monitor spends in automation mode. doves-ontology:Time_to_Talk_to_a_Human_Outcome response time to reach a human outcome A Response Time to Reach a Human Outcome is an Issue Resolution Outcome that describes the response time between when a user of a digital medicine application reaches out to file an issue and the point in time at which (s)he is able to successfully, synchronously talk to support personnel over the telephone, live video call, or in person, but not necessarily via chat. doves-ontology:Toddler_Age_Group toddler age group Toddler Age Group is a Child Age Group defined by the CDC as conatining individuals aged 1-3 years of age. https://www.cdc.gov/ncbddd/childdevelopment/positiveparenting/toddlers2.html#:~:text=Toddlers%20(2%2D3%20years%20of%20age) doves-ontology:Transitional_Care_Unit A Step Down Unit (sometimes called Transitional Care Unit) is a type of Acute Care Hospital Setting defined as an intermediate level of care between the Intensive Care Unit (ICU) and the general medical-surgical wards. step down unit doves-ontology:Treatment_Adherence_Outcome treatment adherence outcome A Treatment Adherence Outcome is an Engagement and Adherence Outcome that reflects the extent to which a person follows the recommended treatment plan from a healthcare provider. A Treatment Adherence Outcome is an Engagement and Adherence Outcome that reflects the extent to which a person follows the recommended treatment plan from a healthcare provider. doves-ontology:Turnaround_Time_Outcome turnaround time outcome Turnaround Time Outcome is a Healthcare Operation Outcome that describes the time between a given item's intake and it's completion. doves-ontology:Type_2_Diabetes_Distress_Scale Type 2 Diabetes Distress Scale (T2-DDAS) is a self-reported survey that has 29 items. https://diabetesdistress.org/t2-dds-questions type 2 diabetes distress assessment system (T2-DDAS) outcome A Type 2 Diabetes Distress Assessment System (T2-DDAS) Outcome is a Patient Reported Outcome that is the only DD assessment scale that was developed, validated and standardized specifically for T2D adults. The T2-DDAS has two parts, which can be used independently based on specific clinical or research needs: the Core scale and the Sources scale. The Core scale contains 8 items and assesses the central, unalloyed element of DD as an emotional experience of diabetes-related distress. The Sources scale is 21 items, and it evaluates the relative impact of 7 common sources of DD that may be driving the distress. A Type 2 Diabetes Distress Assessment System (T2-DDAS) Outcome is a Patient Reported Outcome that is the only DD assessment scale that was developed, validated and standardized specifically for T2D adults. The T2-DDAS has two parts, which can be used independently based on specific clinical or research needs: the Core scale and the Sources scale. The Core scale contains 8 items and assesses the central, unalloyed element of DD as an emotional experience of diabetes-related distress. The Sources scale is 21 items, and it evaluates the relative impact of 7 common sources of DD that may be driving the distress. doves-ontology:Unknown Unknown sex is a Sex Assigned at Birth defined as a multidimensional biological construct based on anatomy, physiology, genetics, and hormones (sex traits) consistent with indeterminate genitalia and/or chromosomes. Source: https://orwh.od.nih.gov/sex-gender" unknown sex doves-ontology:Urinary_Sign_Outcome urinary control outcome A Urinary Control Outcome is a Sign Control Outcome which indicates whether or not a person has urinary incontinence, which is the loss of bladder control. Types of urinary incontinence include stress incontinence, urge incontinence, and overflow incontinence. A Urinary Control Outcome is a Sign Control Outcome which indicates whether or not a person has urinary incontinence, which is the loss of bladder control. Types of urinary incontinence include stress incontinence, urge incontinence, and overflow incontinence. doves-ontology:Vision_Control_Outcome vision control outcome A Vision Control Outcome is a Sign Control Outcome that describes the influence of a digital medicine application on vision control. doves-ontology:Vision_Related_Quality_of_Life_Outcome vision related quality of life outcome A Vision Related Quality of Life Outcome (VRQOL) is a Patient Reported Outcome which represents the degree to which vision impacts an individual's ability to complete activities of daily living and one's social, emotional and economic well-being. A Vision Related Quality of Life Outcome (VRQOL) is a Patient Reported Outcome which represents the degree to which vision impacts an individual's ability to complete activities of daily living and one's social, emotional and economic well-being. doves-ontology:Weight_Control_Outcome weight control outcome Weight Control Outcome is a Sign Control Outcome that describes a digital medicine application's influence over controlling or helping to control a patient's weight. doves-ontology:Work_Productivity_and_Activity work productivity and activity outcome A Work Productivity and Activity Outcome is a Patient Socioeconomic Outcome that describes the influence a digital medicine application may have on a patient's ability to work productively. doves-ontology:Work_Productivity_and_Activity_Impairment_Questionnaire The Work Productivitiy and Activitiy Impairment Questionnaire is a a questionnaire about the effect of an individual's health problems on his/her ability to work and perform regular activities. https://oml.eular.org/sysModules/obxOML/docs/id_98/WPAI-GH_English_US_V2.pdf work productivity and activity impairment questionnaire outcome A Work Productivity and Activity Impairment (WPAI) Questionnaire Outcome is a Patient Reported Outcome that describes a self-administered instrument used to assess the impact of disease on productivity. The WPAI measures work productivity loss due to general health or a specified health problem. This questionnaire has been validated for use in many diseases, including allergic rhinitis, dermatitis, gastro-oesophageal reflux disease, nocturia, asthma, irritable bowel syndrome, and Crohn’s disease. A Work Productivity and Activity Impairment (WPAI) Questionnaire Outcome is a Patient Reported Outcome that describes a self-administered instrument used to assess the impact of disease on productivity. The WPAI measures work productivity loss due to general health or a specified health problem. This questionnaire has been validated for use in many diseases, including allergic rhinitis, dermatitis, gastro-oesophageal reflux disease, nocturia, asthma, irritable bowel syndrome, and Crohn’s disease. doves-ontology:Young_Adult_Age_Group young adult age group Young Adult Age Group is defined as consisting of those individuals age 18-26. https://www.ncbi.nlm.nih.gov/books/NBK284791/#:~:text=Young%20adulthood%2C%20spanning%20approximately%20ages,and%20engaged%20members%20of%20the 30 second sit to stand test outcome A 30 Second Sit to Stand Test Outcome is a Musculoskeletal Control Outcome that tests leg strength and endurance in older adults. A 30 Second Sit to Stand Test Outcome is a Musculoskeletal Control Outcome that tests leg strength and endurance in older adults. barthel index (BI) outcome A Barthel Index (BI) Outcome is a Healthcare Provider Reported Outcome that measures ten functions that are important for independent living – feeding, bathing, grooming, dressing, bowel and bladder continence, toileting, transfers, mobility, and stair use. Items are weighted and scored according to their perceived importance. Higher scores indicate better performance. In the most commonly used version, the maximum score of 100 indicates full independence. Several versions of the Barthel Index and their associated scoring methods exist. A Barthel Index (BI) Outcome is a Healthcare Provider Reported Outcome that measures ten functions that are important for independent living – feeding, bathing, grooming, dressing, bowel and bladder continence, toileting, transfers, mobility, and stair use. Items are weighted and scored according to their perceived importance. Higher scores indicate better performance. In the most commonly used version, the maximum score of 100 indicates full independence. Several versions of the Barthel Index and their associated scoring methods exist. berg balance scale (BBS) outcome The Berg Balance Score (BBS) Outcome is a Healthcare Provider Reported Outcome that is an objective measurement tool, originally designed to measure balance in older individuals. It consists of 14 items scored on an ordinal scale of 0 to 4 for a total of 56 points (a higher score indicates lower fall risk). The Berg Balance Score (BBS) Outcome is a Healthcare Provider Reported Outcome that is an objective measurement tool, originally designed to measure balance in older individuals. It consists of 14 items scored on an ordinal scale of 0 to 4 for a total of 56 points (a higher score indicates lower fall risk). COPD assessment test (CAT) outcome Patient-completed questionnaire assessing globally the impact of COPD (cough, sputum, dysnea, chest tighteness) on health status. Range of CAT scores from 0–40. Higher scores denote a more severe impact of COPD on a patient's life. The difference between stable and exacerbation patients was five units. No target score represents the best achievable outcome. Patient-completed questionnaire assessing globally the impact of COPD (cough, sputum, dysnea, chest tighteness) on health status. Range of CAT scores from 0–40. Higher scores denote a more severe impact of COPD on a patient's life. The difference between stable and exacerbation patients was five units. No target score represents the best achievable outcome. Cardiac Intensive Care Unit Setting is a type of Intensive Care Unit Setting dedicated to patients with acute cardiac issues. cardiac intensive care unit (CICU) chronic respiratory disease questionnaire (CRQ) outcome A Chronic Respiratory Disease Questionnaire (CRQ) Outcome is a Patient Reported Outcome that is the most commonly used disease specific measurement tool to assess HRQL in patients with chronic respiratory disease. A Chronic Respiratory Disease Questionnaire (CRQ) Outcome is a Patient Reported Outcome that is the most commonly used disease specific measurement tool to assess HRQL in patients with chronic respiratory disease. Clinician and Group Consumer Assessment of Healthcare Providers and Systems (CG CAHPS) Outcome is a Healthcare Quality of Care Outcome that is a standardized survey used to measure patients' perceptions of care from healthcare providers that measures perceptions on patients' ability to get timely appointments, care, and information; how well providers communicate with patients; providers' use of information to coordinate patient care; and helpful, courteous, and respectful office staff. Source: https://www.ahrq.gov/cahps/surveys-guidance/cg/index.html clinician and group consumer assessment of healthcare providers and systems (CG CAHPS) outcome CE Approval (or CE Marking) is a Refining Value indicating that products sold in the European Economic Area have been assessed to meet high safety, health, and environmental protection requirements. Source: https://single-market-economy.ec.europa.eu/single-market/ce-marking_en conformite europeenne (CE) approval status Continuous Glucose Monitor (CGM) Wear Time is a Patient Engagement Outcome that reflects the percent of time that a patient wears his/her continuous glucose monitor. continuous glucose monitor (CGM) wear time outcome Continuous Glucose Monitor Wear Tme Outcome is a Patient Engagement Outcome that describes the amount of time that a continuous glucose monitor is worn by a patient. dynamic gait index (DGI) outcome The Dynamic Gait Index (DGI) Outcome is a Healthcare Provider Reported Outcome that assesses the ability of the participant to maintain walking balance while responding to different task demands, through various dynamic conditions. It is a useful test in individuals with vestibular and balance problems and those at risk of falls. The Dynamic Gait Index (DGI) Outcome is a Healthcare Provider Reported Outcome that assesses the ability of the participant to maintain walking balance while responding to different task demands, through various dynamic conditions. It is a useful test in individuals with vestibular and balance problems and those at risk of falls. Electronic Health Record (EHR) Inbox Management Outcome is a Healthcare operation Outcome that is influenced by a digital medicine application's ability to manage, and potentially decrease the volume of, or effort involved in a healthcare provider's need to manage his/her EHR inbox. electronic health record (EHR) inbox management outcome Electronic Health Record (EHR) Inbox Management Outcome is a Healthcare Operation Outcome that describes a digital medicine application's ability to help manage the healthcare provider's electronic inbox. fast healthcare interoperability resources (FHIR) API outcome An HL7® FHIR® (Fast Healthcare Interoperability Resources 1 ) is an API Access Outcome that describes whether a digital medicine application uses the HL& FIHR standard, which is a standard that defines how healthcare information can be exchanged between different computer systems regardless of how it is stored in those systems. It allows healthcare information, including clinical and administrative data, to be available securely to those who have a need to access it, and to those who have the right to do so for the benefit of a patient receiving care. The standards development organization HL7® (Health Level Seven®3) uses a collaborative approach to develop and upgrade FHIR. An HL7® FHIR® (Fast Healthcare Interoperability Resources 1 ) is an API Access Outcome that describes whether a digital medicine application uses the HL& FIHR standard, which is a standard that defines how healthcare information can be exchanged between different computer systems regardless of how it is stored in those systems. It allows healthcare information, including clinical and administrative data, to be available securely to those who have a need to access it, and to those who have the right to do so for the benefit of a patient receiving care. The standards development organization HL7® (Health Level Seven®3) uses a collaborative approach to develop and upgrade FHIR. greene climacetric scale (GCS) outcome A Greene Climacetric Scale (GCS) Outcome is a Patient Reported Outcome that provides a brief measure of menopause symptoms. It can be used to assess changes in different symptoms, before and after menopause treatment. Three main areas are measured: 1. Psychological (items 1-11). 2. Physical (items 12-18). 3. Vasomotor (items 19, 20). https://www.jeanhailes.org.au/uploads/Health-professionals/Menopause_symptom_scale_Greene_Climacteric.pdf hospital consumer assessment of healthcare providers and systems (HCAHPS) outcome A HCAHPS (Hospital Consumer Assessment of Healthcare Providers and Systems) survey Outcome is a Healthcare Quality of Care Outcome that is the first national, standardized, publicly reported survey of patients' perspectives of hospital care. HCAHPS (pronounced "H-caps"), also known as the CAHPS Hospital Survey, is a survey instrument and data collection methodology for measuring patients' perceptions of their hospital experience. A HCAHPS (Hospital Consumer Assessment of Healthcare Providers and Systems) survey Outcome is a Healthcare Quality of Care Outcome that is the first national, standardized, publicly reported survey of patients' perspectives of hospital care. HCAHPS (pronounced "H-caps"), also known as the CAHPS Hospital Survey, is a survey instrument and data collection methodology for measuring patients' perceptions of their hospital experience. Increased Computed Tomography (CT) Throughput Outcome is an Increased Radiology Diagnostic Throughput Outcome that describes a digital medicine application's increase the throughput of PET scan imaging. increased computed tomography (CT) throughput outcome Increased Positron Emission Tomography (PET) Scan Throughput Outcome is an Increased Nuclear Medicine Diagnostic Throughput Outcome that describes a digital medicine application's influence on increasing the throughput on PET scans. increased positron emission tomography (PET) scan throughput outcome irritable bowel syndrome - severity scoring system (IBS-SSS) outcome A Irritable Bowel Syndrome - Severity Scoring System (IBS-SSS) Outcome is a Patient Reported Outcome that is a composite score of abdominal pain, number of days with abdominal pain, bloating/distension, satisfaction with bowel habits, and IBS-related quality of life (QoL). Each measure is rated from 0 to 100, with total scores ranging from 0 to 500. A Irritable Bowel Syndrome - Severity Scoring System (IBS-SSS) Outcome is a Patient Reported Outcome that is a composite score of abdominal pain, number of days with abdominal pain, bloating/distension, satisfaction with bowel habits, and IBS-related quality of life (QoL). Each measure is rated from 0 to 100, with total scores ranging from 0 to 500. Life's Essential 8 Outcome is a Multi-dimensional Lifestyle Adherence Outcome that has been developed by the American Heart Association, and is comprised of Healthy Behaviors (Eat Better, Be More Active, Quit Tobacco, Get Health Sleep), and Health Factors (Manage weight, Control Cholesterol, Manage Blood Sugar, and Manage Blood Pressure). Source: https://www.heart.org/en/healthy-living/healthy-lifestyle/lifes-essential-8 life's essential 8 outcome MDS-Unified parkinson's disease rating scale (MDS-UPRDRS) outcome The MDS-UPDRS Outcome is a Patient Reported Outcome that is an updated and expanded version of the original UPDRS, and is the most studied and utilized movement disorders rating scale. It rates aspects of Parkinson disease on four subscales: Part I: ‘‘nonmotor experiences of daily living,’’ Part II: ‘‘motor experiences of daily living,’’ Part III: ‘‘motor examination,’’ and Part IV: ‘‘motor complications of levodopa therapy.’’ Although the UPDRS has been applied to assess the severity of parkinsonism in juvenile neuronal ceroid lipofuscinosis (Batten disease), its clinicometric properties have not been evaluated in children. The MDS-UPDRS Outcome is a Patient Reported Outcome that is an updated and expanded version of the original UPDRS, and is the most studied and utilized movement disorders rating scale. It rates aspects of Parkinson disease on four subscales: Part I: ‘‘nonmotor experiences of daily living,’’ Part II: ‘‘motor experiences of daily living,’’ Part III: ‘‘motor examination,’’ and Part IV: ‘‘motor complications of levodopa therapy.’’ Although the UPDRS has been applied to assess the severity of parkinsonism in juvenile neuronal ceroid lipofuscinosis (Batten disease), its clinicometric properties have not been evaluated in children. manual muscle testing (MMT) outcome Manual Muscle Testing (MMT) outcome is a Healthcare Provider Reported Outcome that grades muscle strength and function are usually labelled with the following terms: “zero,” “trace,” “poor,” “fair,” “good,” and “normal.” In addition, manual muscle testing grades can be further described using a numerical scale from 0 through 5. Manual Muscle Testing (MMT) outcome is a Healthcare Provider Reported Outcome that grades muscle strength and function are usually labelled with the following terms: “zero,” “trace,” “poor,” “fair,” “good,” and “normal.” In addition, manual muscle testing grades can be further described using a numerical scale from 0 through 5. Mean Time to Failure (MTTF) Outcome is a System Availablity Outcome that is a maintenance record that measures the average amount of itme a non-repairable asset operates before it fails. mean time to failure (MTTF) outcome modified ashworth scale (MAS) outcome A Modified Ashworth Scale (MAS) Outcome is a Healthcare Provider Reported Outcome the purpose of which is to grade muscle spasticity. The scale is as follows[4]: 0: No increase in muscle tone 1: Slight increase in muscle tone, with a catch and release or minimal resistance at the end of the range of motion when an affected part(s) is moved in flexion or extension 1+: Slight increase in muscle tone, manifested as a catch, followed by minimal resistance through the remainder (less than half) of the range of motion 2: A marked increase in muscle tone throughout most of the range of motion, but affected part(s) are still easily moved 3: Considerable increase in muscle tone, passive movement difficult 4: Affected part(s) rigid in flexion or extension A Modified Ashworth Scale (MAS) Outcome is a Healthcare Provider Reported Outcome the purpose of which is to grade muscle spasticity. The scale is as follows[4]: 0: No increase in muscle tone 1: Slight increase in muscle tone, with a catch and release or minimal resistance at the end of the range of motion when an affected part(s) is moved in flexion or extension 1+: Slight increase in muscle tone, manifested as a catch, followed by minimal resistance through the remainder (less than half) of the range of motion 2: A marked increase in muscle tone throughout most of the range of motion, but affected part(s) are still easily moved 3: Considerable increase in muscle tone, passive movement difficult 4: Affected part(s) rigid in flexion or extension Modified Long Term Acute Care (LTAC) Utilization is a Healthcare Utilizaiton Outcome that describes a digital medicine application's influence on patient utilization of Long Term Acute Care (LTAC) facilities, which are a facilities that are certified as an acute‑care hospital, and focus on patients who, on average, stay more than 25 days. Many of the patients in these facilities are transferred there from an intensive or critical care unit. Source: https://www.medicare.gov/Pubs/pdf/11347-Long-Term-Care-Hospitals.pdf" modified long term acute care (LTAC) utilization modified medical research council (MMRC) dyspnea scale outcome A Modified Medical Research Council (mMRC) Dyspnea Scale Outcome is a Patient Reported Outcome that describes a self-rating tool to measure the degree of disability that breathlessness poses on day-to-day activities on a scale from 0 to 4: 0, no breathlessness except on strenuous exercise; 1, shortness of breath when hurrying on the level or walking up a slight hill; 2, walks slower than people of same age on the level because of breathlessness or has to stop to catch breath when walking at their own pace on the level; 3, stops for breath after walking ∼100 m or after few minutes on the level; and 4, too breathless to leave the house, or breathless when dressing or undressing. A Modified Medical Research Council (mMRC) Dyspnea Scale Outcome is a Patient Reported Outcome that describes a self-rating tool to measure the degree of disability that breathlessness poses on day-to-day activities on a scale from 0 to 4: 0, no breathlessness except on strenuous exercise; 1, shortness of breath when hurrying on the level or walking up a slight hill; 2, walks slower than people of same age on the level because of breathlessness or has to stop to catch breath when walking at their own pace on the level; 3, stops for breath after walking ∼100 m or after few minutes on the level; and 4, too breathless to leave the house, or breathless when dressing or undressing. A Neonatal Intensive Care Unit (NICU) is a type of Intensive Care Unit (ICU) dedicated to the care of patients in the Neonatal Age Group. neonatal intensive care unit (NICU) O'Leary-Sant symptom index outcome The IC symptom index and the IC problem index measure urinary and pain symptoms and assesses how problematic symptoms are for patients with interstitial cystitis. The IC symptom index and the IC problem index measure urinary and pain symptoms and assesses how problematic symptoms are for patients with interstitial cystitis. oswestry disability index (ODI) outcome A Oswestry Disability Index (aka the Oswestry Low Back Pain Disability Questionnaire) Outcome is a Patient Reported Outcome that is an extremely important tool that researchers and disability evaluators use to measure a patient’s permanent functional disability. The test has been around since 1980 and is considered the ‘gold standard’ of low back pain functional outcome tools. A Oswestry Disability Index (aka the Oswestry Low Back Pain Disability Questionnaire) Outcome is a Patient Reported Outcome that is an extremely important tool that researchers and disability evaluators use to measure a patient’s permanent functional disability. The test has been around since 1980 and is considered the ‘gold standard’ of low back pain functional outcome tools. PTSD checklist for DSM-5 (PCL-5) outcome patient activation measure (PAM) outcome A Patient Activation Measure (PAM) Outcome is a Patient Reported Outcome that is a 22-item measure that assesses patient knowledge, skill, and confidence for self-management. The measure was developed using Rasch analyses and is an interval level, unidimensional, Guttman-like measure. A Patient Activation Measure (PAM) Outcome is a Patient Reported Outcome that is a 22-item measure that assesses patient knowledge, skill, and confidence for self-management. The measure was developed using Rasch analyses and is an interval level, unidimensional, Guttman-like measure. A Pediatric Intensive Care Unit (PICU) is a type of Intensive Care Unit (ICU) dedicated to the care of patients in the Pediatric Age Group. pediatric intensive care unit (PICU) pelvic floor disability index (PFDI-20) outcome A Pelvic Floor Disability Index (PFDI-20) Outcome is a Patient Reported Outcome which shows how the total PFDI-20 score was classified as the absence of symptoms (score zero), symptoms with mild distress (1 to 15 points), symptoms with moderate distress (16 to 34 points), and symptoms with severe distress (35 to 40 points). A Pelvic Floor Disability Index (PFDI-20) Outcome is a Patient Reported Outcome which shows how the total PFDI-20 score was classified as the absence of symptoms (score zero), symptoms with mild distress (1 to 15 points), symptoms with moderate distress (16 to 34 points), and symptoms with severe distress (35 to 40 points). reduced ED to Admission/Observation rate outcome Reduced ED to Admission/Observation Rate Outcome is a Reduced Emergency Department Utilization Outcome that describes a digital medicine application's influence on reducing the number of patients who are admitted to the hospital relative to the number of patients who are placed on observation status. representational state transfer (REST) outcome A Representational State Transfer (REST) Outcome is an API Access Outcome that describes whether a digital medicine application exchanges information using the World Wide Web standard transfer protocol HTTP, the underlying internet standard that forms the basis for all website data exchange. self efficacy to manage chronic disease (SEMCD) scale outcome A Self-Efficacy for Managing Chronic Disease (SEMCD) scale Outcome is a Patient Reported Outcome which is a 6-item questionnaire that measures confidence in one's ability to manage fatigue, pain, emotional distress, and other symptoms using self-management techniques. A Self-Efficacy for Managing Chronic Disease (SEMCD) scale Outcome is a Patient Reported Outcome which is a 6-item questionnaire that measures confidence in one's ability to manage fatigue, pain, emotional distress, and other symptoms using self-management techniques. st. george's respiratory questionnaire (SGRQ) outcome The St George's Respiratory Questionnaire (SGRQ) Outcome is a Patient Reported Outcome that is a standardized self-completed questionnaire for measuring impaired health and perceived well-being ('quality of life') in airways disease. It has been designed to allow comparative measurements of health between patient populations and quantify changes in health following therapy. The St George's Respiratory Questionnaire (SGRQ) Outcome is a Patient Reported Outcome that is a standardized self-completed questionnaire for measuring impaired health and perceived well-being ('quality of life') in airways disease. It has been designed to allow comparative measurements of health between patient populations and quantify changes in health following therapy. The Type 1 Diabetes Distress Scale is a self-reported survey that has 28 items. https://diabetesdistress.org/t1-dds-questions type 1 diabetes distress scale (T1-DDS) outcome A Type 1 Diabetes Distress Scale (T1-DDS) Outcome is a Patient Reported Outcome which is a 28-item self-report instrument. Each item is rated on a 6-point scale from (1) “not a problem” to (6) “a very significant problem.” The scale yields an overall distress score based on average responses along the 1-6 scale for all 28 items (range = 1-6). The scale also yields a score for each of 7 subscales based on the average response on all of the items in that subscale (range = 1-6). A Type 1 Diabetes Distress Scale (T1-DDS) Outcome is a Patient Reported Outcome which is a 28-item self-report instrument. Each item is rated on a 6-point scale from (1) “not a problem” to (6) “a very significant problem.” The scale yields an overall distress score based on average responses along the 1-6 scale for all 28 items (range = 1-6). The scale also yields a score for each of 7 subscales based on the average response on all of the items in that subscale (range = 1-6). https://pubmed.ncbi.nlm.nih.gov/30973342/ mHealth app usability questionnaire outcome A Mobile Health (mHealth) App Usability Questionnaire (MAUQ) Outcome is a Human Factors and Usability Outcome that assesses the usability of mHealth apps created for patients and providers. A Mobile Health (mHealth) App Usability Questionnaire (MAUQ) Outcome is a Human Factors and Usability Outcome that assesses the usability of mHealth apps created for patients and providers. owl:Thing doves:a01b3bf3-a332-4213-8b6d-0ae97be1f128 aerospace medicine doves:a0885d3f-beaa-4dbe-a81a-78484cb2757b neurocritical care doves:a100d2ec-67bd-4eb3-b08d-065e3d90f677 geriatric psychiatry doves:a141b618-7ee2-4bdd-8037-d072efc97740 forensic pathology doves:a2137378-288c-4e21-a277-b907e7654030 magnetic resonance imaging doves:a35064d9-a2f4-480d-9574-708a531398a7 ophthalmology screening rates doves:a5627207-3c76-4b6c-8c81-f24283570b23 Increased Sensitivity is a measure of Increased Accuracy defined as true positives/ (true positives + false negatives) increased sensitivity doves:a93a87f9-7853-4885-9856-28eb1fa52b3b general surgery doves:acb718e4-eb5d-4c70-aa21-06bddeb9fd05 For demo example diabetic retinopathy application An digital medicine application that is designed to address outcomes associated with diabetic retinopathy. doves:ad49b249-3b61-45af-91ea-1ec2bf61eff4 durable medical equipment ordering outcome DME Ordering Outcome Durable Medical Equipment Ordering Outcoe is an Ordering Outcome that describes a digital medicine application's ability to facilitate ordering of durable medical equipment. doves:ae3e5479-6f31-4619-992c-16509fef95fb An adolescent girl person is a Person who is female and is of the Adolescent Age Group adolescent girl person doves:afa90ae5-da23-4f28-8fd4-ce2d8ce18b40 price transparency outcome Price Transparency Outcome is a Patient/Family Education Outcome that pertains to healthcare cost transparency. doves:b10b1490-4dce-4970-bd31-5e59471fa6fb EHR data transfer outcome An EHR Data Transfer Outcome is a Data Transfer Outcome that pertains to transfer of electronic health record (EHR) data, including the use of tools to increase the efficiency of transfer of these data. doves:b129abd1-3d08-42e9-b1b3-7ed9f235fe93 Patient Role is a Role describing a patient as a user type of a digital medicine or digital therapeutic application. patient role doves:b2153ef6-a877-4374-be7f-8ff972c324be USCDI v1 outcome A USCDI V1 Outcome is a USCDI Compliance Outcome that describes whether a digital medicine application adheres to USCDI V1,a standardized set of health data classes and constituent data elements for nationwide, interoperable health information exchange. A USCDI V1 Outcome is a USCDI Compliance Outcome that describes whether a digital medicine application adheres to USCDI V1,a standardized set of health data classes and constituent data elements for nationwide, interoperable health information exchange. doves:b273e6c7-4b77-4244-8e80-f9b2f2ac864d A Child Boy Person is a Person who is male and of the Child Age Group. child boy person doves:b34f875c-61e8-4846-b5f4-8f9959ecc5b0 general family medicine doves:b483ae0e-a5bb-4d99-b155-5c1b33db8f83 pediatric otolaryngology doves:b4dfc8ef-6118-472c-a2f1-957eaa14dc1e reduced 30 day emergency department revisit rate outcome Reduced 30 Day Emergency Department Revisit Rate Outcome is a Reduced Emergency Department Utilization Outcome that describes a digital medicine application's influence on reducing the raw revisit rate of patients to the emergency department in a 30 day window, without any risk adjustment. doves:b52b3a8f-db53-4261-b6a9-17a98841e791 A Neonate boy person is a Person who is male and of the Neonate Age Group. neonate boy person doves:b532868a-cffa-4387-a74e-90dc255d2fe0 endocrinology doves:b7809475-8b09-4213-b83a-b4d970cb21ac public health education outcome A Public Health Education Outcome is an Education Outcome that is reflected in an aggregate measure of the public's understanding of a disease or condition relative to a comparator state of the public's understanding. doves:b8499147-fac1-4186-87c2-c937f0450fc7 Phase 1 Trial Evidence is Controlled Trial Evidence that comes from a Phase I trial which is usually done as a first in-humans trial to determine the safety of an intervention in a relatively small group. phase 1 trial evidence doves:b870f67f-2e8c-4eb9-9edf-9ce09bc91220 sleep medicine doves:bc6eb865-33bb-43b0-a9e4-b8c1545eca7b transplant hepatology doves:bdce4b1c-c192-4384-b138-911ec298fd2f A Child person is a Person of the Child Age Group. child person doves:bdd73cee-c6bb-434d-98ca-8beb1c6aa521 Intra-Operative processes doves:be939100-e527-489d-ab9a-94aa852245f6 human factors and usability outcome A Human Factors and Usability Outcome is a User Experience Outcome that describes how people interact with technology and how user interface design affects the interactions people have with technology. A Human Factors and Usability Outcome is a User Experience Outcome that describes how people interact with technology and how user interface design affects the interactions people have with technology. doves:c07c9209-0f8c-4e8d-9a1d-246baa2c4030 CIS controls v8 compliance outcome CIS Controls V8 Compliance Outcome is a Cybersecurity and Privacy Outcome that describes a digital medicine application compliance with CIS Controls V8, a Center for Internet Security (CIS) set of safeguards to mitigate the most prevalent cyber-attacks against systems and network. CIS Controls V8 Compliance Outcome is a Cybersecurity and Privacy Outcome that describes a digital medicine application compliance with CIS Controls V8, a Center for Internet Security (CIS) set of safeguards to mitigate the most prevalent cyber-attacks against systems and network. doves:c0d7e632-dd5d-4843-9f1d-4fd5820e04fa increased Scheduled/Available appointment outcome Increased Scheduled/Available Appointment Outcome is an Appointment Scheduling Outcome that describes a digital medicine application's ability to increase the ratio of successfully scheduled appointments relative to available appointment slots. doves:c0ee0de7-f797-47e8-bfc1-991e473018c3 undersea and hyperbaric medicine doves:c155802e-cb31-4f1d-89e9-4f161441f74c Medical Calculator Decision Support is a Clinical Decision Support Capability that is similar to Medical Calculator Capability, but differs in that the calculation support is built into a clinical decision support pop-up, enabling automated population of certain elements from the electronic health record, and not requiring that the user exits to an external medical calculator. medical calculator decision support doves:c1c003fc-196b-4f8b-b53b-330ad3f6336b epilepsy doves:c23323b6-fe6c-445d-8ce8-c8a2b9c0d50b congenital heart disease doves:c242c72d-5ced-4b37-8670-f2834907d963 Clinical Data Aggregation Capability is a Technical Capability Area describing a digital medicine or therapeutic's capability to aggregate and group clinical data. clinical data aggregation capability doves:c28dc506-592e-49a4-a783-c382a7b65c35 Post-Operative length of stay doves:c420321e-c648-4ee8-bf15-9df9800e8bde issue resolution outcome Issue Resolution Outcome is a Product Performance Non-Clinical Outcome that describes the variety of metrics measuring how a digital medicine application vendor handles issues such as bugs, downtime, and other matters raised by end users. doves:c6593bc1-6feb-427e-a736-28842e1208bc Billing Codes Capability is a Technical Capability Area describing a digital medicine or therapeutic's capability to provide functionlaity related to medical billing codes. billing codes capability doves:c6ffecc1-9d5b-4509-806d-fe7464f6421a comprehension outcome A Comprehension Outcome is a Patient/Family Education Outcome that is a measure of comprehension. doves:c8696978-6ad4-40a4-8569-2a5286f518b1 modified diagnostic accuracy outcome A Modified Diagnositc Accuracy Outcome is a Modified Diagnosis Outcome describing the capacity for a Digital Medicine Application to modify the accuracy of a diagnosis relative to that of a comparator means (e.g. current care, another digital medicine application, etc.) doves:c8b90c91-6b19-4865-985d-ae552056150e disease severity identification outcome A Disease Severity Identification Outcome is a Health Benefit Outcome that a Digital Medicine Application may help identify or quantify. It is a measure of the severity of a disease. doves:c8c2f65d-6731-408f-b01b-a39fb47a2764 pediatric ophthalmology doves:c9013f84-d508-4ab7-88b9-b85ac089eaa8 Increased Macro Precision is a measure of Increased Accuracy and is the arithmetic mean of all the precision values for the different classes. increased macro precision doves:ca36addf-e79a-40f6-b2c2-5cb5b46d6dab neurology doves:ccf65a8d-246e-43d7-b378-c840c50a5f36 peri-procedural stage Peri-procedural Stage is a Refining Value that describes a stage of preparation or recovery around a surgical procedure. A periprocedural action occurs soon before, during, or soon after the performance of a procedure. doves:ccfeb03c-e2a3-4686-87d6-b07272789813 urology doves:cd27d2cf-0101-410d-95d3-651f1245749d process of care gap closure outcome Process of Care Gap Closure Outcome is a Process of Care Outcome that describes a digital medicine application's ability to help close gaps in performance on processes of care. HEDIS Measure gaps are a good example, but there are others as well. doves:cd866c42-9c5a-40d7-901d-68102336838f Increased Kappa Statistic is a measure of Increased Accuracy that describes Cohen's kappa, a statistical measurement of agreement that takes into account the possibility of ageeement offucing by chance. It may be used to measure agreement between an intervention and a gold standard, for example. Source: https://en.wikipedia.org/wiki/Cohen%27s_kappa increased kappa statistic doves:cdec99b1-f3e5-4009-bdc5-49ea965dc503 modified emergency department utilization outcome Modified Emergency Department Utilization Outcome is a Healthcare Utilization Outcome that describes a digital medicine application's influence over reducing the amount of emergency room utilization by patient(s). doves:d042fc04-644c-4ce3-9ea9-c51efd5ac25a Data Processing Synthesis or Visualization Capability is a Technical Capability Area describing a digital medicine or therapeutic's capability to process or synthesize data and usually turn those data into meaningul output such as through visualizations. data processing synthesis or visualization capability doves:d0864caf-2471-462e-a5d9-a8bf52c7cbf5 operating room cancellation outcome Operating Room Cancellation Outcome is an Operating Room Outcome that describes a digital medicine application's ability to influence rate at which scheduled operating room cases are cancelled. doves:d12f4245-989e-4d9a-a72a-4fc8c9e5a254 Patient Generated Health Data Technology is a Remote Patient Monitoring Technology that creates, records, or gathers health-related data by or from patients (or family members or other caregivers) outside of the clinical setting to help address a health concern. Source: https://www.healthit.gov/topic/scientific-initiatives/pcor/patient-generated-health-data-pghd#:~:text=Patient%2Dgenerated%20health%20data%20(PGHD)%20are%20health%2Drelated,help%20address%20a%20health%20concern. patient generated health data technology doves:d1302803-32bc-4407-8b39-43d8b3f8faa3 cytopathology doves:d150bf81-f94c-4383-8e61-9cb75d89e491 advanced heart failure doves:d1d48951-3ab7-421a-9442-c849fccc2212 molecular genetic pathology doves:d20f03be-e7bc-4fdc-830b-0ad2afb01298 hematology doves:d3f9b329-68f0-4f5b-be4e-6de480313639 Increased Macro F-1 score is a measure of Increased Accuracy, and is appropriate as a measure of accuracy in an imbalanced data set. While F1 score is a machine learning evaluation metric that measures a model’s accuracy on the "micro" level, macro F1 is the unweighted mean of the F1 scores calculkated per class. It is defined as the sum(F1 scores)/nunber of classes. Source: https://www.v7labs.com/blog/f1-score-guide" Source: https://stephenallwright.com/micro-vs-macro-f1-score/ increased macro f-1 score doves:d629c2b2-e13f-4130-9ff5-d64843449e90 rheumatology doves:d70e348b-aceb-489b-b44d-1e43bb90d939 neonatal weight gain doves:d7fdedbd-6d0d-4d67-bd98-03f4c80c944b Age Group is a Refining Value that describes the age category(ies) of a digital medicine application's users. age group doves:d8021be1-d620-42b7-8de2-5fd880e31973 ophthalmology doves:d8921308-6f79-4d16-8633-d63e9d8ed046 knee doves:d9e2bafb-40d3-433f-8047-5f7a81973790 A digital medicine application is an application that leverages digital technologies to address healthcare outcomes relating to one or more diseases or specialties, using one or more technological approaches, with one or more users at least one of whom is a healthcare professional. Digital medicine applications are conceptually related to Software as a Medical Device (SaMD) or Software in a Medical Device (SiMD) digital medicine application A digital medicine application is a software application that measures and/or intervenes in the service of human health. Clinical evidence is required, and requirements for regulatory oversight vary. Digital medicine products that are classified as medical devices require clearance or approval. Digital medicine products used as a tool to develop other drugs, devices, or medical products require regulatory acceptance by the appropriate review division. A digital medicine application is a software application that measures and/or intervenes in the service of human health. Clinical evidence is required, and requirements for regulatory oversight vary. Digital medicine products that are classified as medical devices require clearance or approval. Digital medicine products used as a tool to develop other drugs, devices, or medical products require regulatory acceptance by the appropriate review division. doves:da3392c3-0c35-4aed-8a3a-c3307314a65e ultrasound doves:da5b1476-bbe6-4a2a-8267-886475bcc6f4 Adminstrator Role is a Role describing a medical administrator as a user type of a digital medicine or digital therapeutic application. administrator role doves:daed7098-b42f-4e48-8275-d0a97ef33b43 neurological surgery doves:dc24e719-9528-4044-83c2-7c884c50fe84 gastroenterology doves:dd0ba81a-9acc-46e2-806b-aae0d2aad8df orthopedic sports medicine doves:deabd44d-0752-4d89-95f4-953e926fffb6 transplant cardiology doves:e00f60fe-459e-4222-b551-01401c9a5c52 pediatric nephrology doves:e0572232-c809-440d-be51-980caa1f4b7f pediatric rheumatology doves:e069e35e-fd87-413e-9405-d49da292b047 anatomic pathology doves:e158ac72-b413-43dc-b773-9c8800640d98 patient records access outcome Patient Records Access Outcome is a Healthcare Operation Outcome that describes a digital medicine application's influence over the ease with which it is possible to access patient records relative to other approaches. doves:e15cbe9f-c88e-47ea-8727-d088fe7b767d shoulder doves:e1b32055-f68c-4f72-a5bb-0122d5fe2023 obstetrics and gynecology doves:e3b2aa1f-da25-4ddb-ba0a-a275d22cb2d4 patient reported quality of life outcome Patient Reported Quality of Life Outcome is a Patient Reported Outcome consisting of a variety of scales used to assess patient quality of life. doves:e3e08f27-e18a-4db8-937b-5ec4ba9c6c58 medical genetics and genomics doves:e664555f-ac26-4050-b63e-4bfa6725a165 infectious disease doves:e677ffb2-3a5a-4e16-a017-a7268e348735 reduced adverse event rate outcome Reduced Adverse Event Rate Outcome is a Safety Event Outcome that describes a digital medicine application's influence on reducing the rate at which adverse events occur. doves:e809c41b-c28d-4364-91d0-d62b8d900f73 reduced 90 day all cause hospital readmission rate outcome Reduced 90 Day All Cause Hospital Readmission Rate Outcome is a Reduced Hospital Readmission Rate Outcome that describes a digital medicine application's influence over reducing the rate at which patients are readmitted to the hospital for all causes within 90 days of a prior hospital discharge. It is a commonly used timeframe for quality reporting and for value based care purposes. doves:e849bada-9fc3-4799-b3d4-625dc79093f4 digital medicine application outcome A Digital Medicine Application Outcome is an outcome that associated with developent, use, or of application of, a digital medicine application. doves:e8a3913a-2e3c-42c6-b662-a35736ffcada Increased Accuracy is a Refining Value that describes the level and type of accuracy measurement for a digital health product that is intended to improve accuracy. increased accuracy doves:e99c9629-5449-42f1-b439-cbd9856c19f3 modified nutrition outcome A Modified Nutrition Outcome is a Health Benefit Outcome that describes a nutritional outcome (e.g. calorie, weight, etc.) deriving in whole or in part from a Digital Medicine Application. doves:ec2cd378-2780-47d1-bcfb-a7c4a1ec60eb radiology doves:ecb2896b-027f-4dbb-b63c-d0a230014bb2 Family Role is a Role describing a family member (typically of a patient) as a user type of a digital medicine or digital therapeutic application. family role doves:edd2c14b-bbc5-4eec-8c18-26acc71bcda5 A Female person is a Person who is female. female person doves:ee861978-0ba8-4b2c-a1f9-855683af0cac An adolescent boy person is a Person who is male and is of the Adolescent Age Group adolescent boy person doves:eebb534e-96d3-45d9-9815-72b59056ebec colon and rectal surgery doves:eec4d9eb-9db4-44f5-9523-c8b481cf4293 interoperability outcome Interoperability Outcome is a Product Performance Non-Clinical Outcome that describes the degree to which a digital medicine application is interoperable with other systems, meaning the ability of different information systems, devices and applications (systems) to access, exchange, integrate and cooperatively use data in a coordinated manner, within and across organizational, regional and national boundaries, to provide timely and seamless portability of information and optimize the health of individuals and populations globally. There are several standards for healthcare interoperability. Interoperability Outcome is a Product Performance Non-Clinical Outcome that describes the degree to which a digital medicine application is interoperable with other systems, meaning the ability of different information systems, devices and applications (systems) to access, exchange, integrate and cooperatively use data in a coordinated manner, within and across organizational, regional and national boundaries, to provide timely and seamless portability of information and optimize the health of individuals and populations globally. There are several standards for healthcare interoperability. doves:efd50c0f-cb79-46f8-9266-1d6afed04248 estimated life years impacted outcome An Estimated Life Years Impacted Outcome is a Health Benefit Outcome that pertains to quantifying the number of life years impacted, directly or indirectly, by a given Digital Medicine Application. doves:f13faa32-33d2-48c3-b9ce-9e0279af659c An Adolescent person is a Person who is of the Adolescent Age Group. adolescent person doves:f17801e2-a13c-406b-b395-cb6c0165dfb2 Increased Negative Predictive Value is a measure of Increased Accuracy that is defined as true negatives / (true negatives + false negatives) increased negative predictive value doves:f232fec5-bc9c-4b23-845c-0a4672a5be36 eFax data transfer outcome An eFax Outcome is a Data Transfer Outcome that is specific to electronic fax, and may pertain to improved data transfer outcomes of electronic faxes compared to another data transfer method. doves:f27262fb-abb0-40d3-86a6-4f080883d020 HOOS outcome Hip Disability and Osteoarthritis Outcome Score Outcome HOOS Outcome is a Patient Reported Outcome that describes the Hip Disability and Osteoarthritis Outcome Score (HOOS) that measures a patient's opinion about their hip and associated problems. HOOS Outcome is a Patient Reported Outcome that describes the Hip Disability and Osteoarthritis Outcome Score (HOOS) that measures a patient's opinion about their hip and associated problems. doves:f36e2870-61e7-4b51-abcd-8752df25ea68 Medical Assistant Role is a Clinician Role describing a medical assistant as a user type of a digital medicine or digital therapeutic application. medical assistant role doves:f4629b84-b36a-4289-b94f-dd16d8446cc5 XRay doves:f4c71cb0-20ca-4838-bea8-c8aa68037a97 healthcare economic outcome A Healthcare Ecnonomic Outcome is a Healthcare Outcome that pertains to costs or cost savings associated with health, healthcare, healthcare interventions, or the healthcare system. doves:f578ffc9-e13e-44ba-828b-fe600d844430 orthopedic surgery doves:f587aae7-957e-4b04-8883-7f8a4a72dfc4 Post-Operative processes doves:f5b0061b-5a83-4dbd-8b51-2da931c6e9b7 Increased F1 Score is a measure of Increased Accuracy is appropriate as a measure of accuracy in an imbalanced data set. F1 score is a machine learning evaluation metric that measures a model’s accuracy. It combines the precision and recall scores of a model. The F1 score is calculated as the harmonic mean of the precision and recall scores. It ranges from 0-100%, and a higher F1 score denotes a better quality classifier. Source: https://www.v7labs.com/blog/f1-score-guide increased f-1 score doves:f5bbbf82-bddb-4bd5-ad9d-e6669d65fca1 referral coordination outcome Referral Coordination Outcome is a Healthcare Operation Outcome that describes a digital medicine application's role in coordinating patient referrals to specialists. doves:f70ac7b3-c718-4511-9f13-2f4ab13050b8 engagement and adherence outcome Engagement and Adherence Outcome is a Healthcare Outcome that pertains to the engagement of a user of a Digital Medicine Application and/or the impact that a Digital Medicine Application has on a patient's healthcare engagement or adherence to a healthcare action plan or medication. doves:f740a23e-7565-4e5f-be22-7ba9e652fc45 decreased cost per quality adjusted life years outcome Decreased Cost per Quality Adjusted Life Years Outcome is an Increased Cost Effectiveness Outcome that is a decrease in the ratio of dollars spent relative to the quality adjusted life years gained, often called cost/QALY. doves:f7c5ecc6-56e3-4644-a133-e22d52d80686 reduced hospital allowed costs outcome Reduced Hospital Allowed Cost Outcome is a Reduced Cost Outcome that describes a digital medicine application's influence on the maximum amount a healthcare insurance plan will pay for a covered healthcare service. doves:f7de2ae0-4161-41bd-b250-25228a0c4cc1 sports medicine doves:f7effc2c-2d5b-405d-840e-9f83b47f3875 neurodevelopmental disabilities doves:f8c83883-9b87-4aa7-9406-6e361358faea adult person An Adult Person is a Person that is in the Adult Age Group doves:f921a0bd-b02b-446a-a2c9-6e4a80e8122c Patient Appointment Scheduling Capability is a Technical Capability Area describing a digital medicine or therapeutic's capability to carry out or assist in the process of scheduling patient medical appointments. patient appointment scheduling capability doves:f972b78e-ca4f-4811-990b-89b9eb375c93 Remote Patient Monitoring Technology is a Technology that is a type of telehealth in which healthcare providers monitor patients outside the traditional care setting using digital medical devices, such as weight scales, blood pressure monitors, pulse oximeters, and blood glucose meters. The data collected from these devices are then electronically transferred to providers for care management. Source: https://psnet.ahrq.gov/perspective/remote-patient-monitoring remote patient monitoring technology doves:f999b34f-5269-4945-9673-88ab1b9c7906 Maternal-Fetal medicine doves:fa9f1a07-dfaa-4d58-926b-ed0b754eb242 reduced 30 day risk adjusted emergency department revisit rate outcome Reduced 30 Day Risk Adjusted Emergency Department Revisit Rate Outcome is a Reduced Emergency Department Utilization Outcome that is adjusted for some parameters of risk (e.g. sicker patients with more chronic conditions have a higher inherent rate of emergency department revisits) over a 30 day time period. doves:fbee41fa-7ca0-44ad-85fa-7ab771b2b169 increased cost effectiveness outcome An Increased Cost Effectiveness Outcome is a Healthcare Economic Outcome that is an increase in the ratio of dollars spent relative to the quality adjusted life years gained, often called cost/QALY. doves:fd4beb3a-3aaa-4fb3-b223-3fc7b1b6106c vision impaired outcome A Vision Impaired Outcome is a Universal Design Outcome related to whether a digital medicine application takes vision impairment into its design consideration. Visual impairment, according to the International Classification of Diseases 11 (2018), is classified into two groups: distance and near presenting vision impairment. Distance vision impairment: Mild – visual acuity worse than 6/12 to 6/18 Moderate – visual acuity worse than 6/18 to 6/60 Severe – visual acuity worse than 6/60 to 3/60 Blindness – visual acuity worse than 3/60 Near vision impairment: Near visual acuity worse than N6 or M.08 at 40cm. A person’s experience of vision impairment varies depending upon many different factors. This includes for example, the availability of prevention and treatment interventions, access to vision rehabilitation (including assistive products such as spectacles or white canes), and whether the person experiences problems with inaccessible buildings, transport and information. A Vision Impaired Outcome is a Universal Design Outcome related to whether a digital medicine application takes vision impairment into its design consideration. Visual impairment, according to the International Classification of Diseases 11 (2018), is classified into two groups: distance and near presenting vision impairment. Distance vision impairment: Mild – visual acuity worse than 6/12 to 6/18 Moderate – visual acuity worse than 6/18 to 6/60 Severe – visual acuity worse than 6/60 to 3/60 Blindness – visual acuity worse than 3/60 Near vision impairment: Near visual acuity worse than N6 or M.08 at 40cm. A person’s experience of vision impairment varies depending upon many different factors. This includes for example, the availability of prevention and treatment interventions, access to vision rehabilitation (including assistive products such as spectacles or white canes), and whether the person experiences problems with inaccessible buildings, transport and information. doves:fdd05704-4a38-479d-82eb-dcc76abd28aa family medicine doves:fde9693d-2c71-48e4-9077-5f47633ba99e ordering outcome Ordering Outcome is a Process of Care Outcome that describes a digital medicine application's ability to facilitate orders in general (e.g. lab orders, imaging orders, referral orders, durable medical equipment orders, etc.) doves:fee7cbba-ae36-462f-b0ae-8eefa7460270 reduced appointment no show rate outcome Modified Appointment No Sho Rate Outcome is a Healthcare Utilization Outcome that describes a digital medicine application's influence on reducing the rate at which patient's do not show up for scheduled appointments. doves:ff617266-46f1-4941-9053-81d4c3531170 modified diagnosis outcome A Modified Diagnosis Outcome is a Health Benefit Outcome pertaining to a Digital Medicine Application's ability to modify the timeliness or accuracy of a diagnosis. doves:ffa41d5f-ac78-4968-bac4-f1db43842960 speech impaired outcome A Speech Impaired Outcome is a Unviersal Design Outcome which describes whether a digital medicine application takes into account language impairment in its design. Language impairment relates to a communication disorder, such as stuttering, impaired articulation, a language impairment, or a voice impairment, that may adversely affect educational performance. A Speech Impaired Outcome is a Unviersal Design Outcome which describes whether a digital medicine application takes into account language impairment in its design. Language impairment relates to a communication disorder, such as stuttering, impaired articulation, a language impairment, or a voice impairment, that may adversely affect educational performance. release of information outcome A Release of Information Outcome is a Data Transfer Outcome that pertains to the release of patient information and may include increased efficiency and/or increased throughtput enabled by a digitial medicine application relative to a comparison technology. pediatric transplant hepatology internal medicine user experience outcome A User Experience Outcome is a Digital Medicine Application Outcome that describes a user’s perceptions and responses that result from the use of a digital medicine system, product or service. User experience includes all the users' emotions, beliefs, preferences, perceptions, physical and psychological responses, behaviors and accomplishments that occur before, during, and after use. A User Experience Outcome is a Digital Medicine Application Outcome that describes a user’s perceptions and responses that result from the use of a digital medicine system, product or service. User experience includes all the users' emotions, beliefs, preferences, perceptions, physical and psychological responses, behaviors and accomplishments that occur before, during, and after use. An Adolescent female person is a Person who is of the Adolescent Age Group and of the female gender. adult female person For demo example peri-operative guidance application addiction psychiatry intra-procedural stage EHR data transfer time reduction outcome EHR Data Time Reduction Outcome is an EHR Data Transfer Outcome that describes the reduced amount of time that a digital medicine application facilitates in transferring EHR data. ankle reduced hospital length of stay outcome Reduced Hospital Length of Stay Outcome is a Healthcare Utilization Outcome that describes a digital medicine application's influence over the length of a hospital stay. A Person is a Refining Value defined as an individual human being. person Controlled Trial Evidence is Evidence that describes a controlled trial study design in which an intervention group is compared to a reference (control) group. Controls may be, for example, placebo, "no treatment", active treatment, dose-comparison, historical control, among others. Randomized controlled trials involve random assignment of subjects into the intervnetion or control group. Source: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6434767/ controlled trial evidence Artificial Intelligence Technology is a Technology defined as a computer system able to perform tasks that normally require human intelligence such as visual perception, speech recognition, decision-making, and translation between languages. Source: Oxford Languages Dictionary artificial intelligence technology USCDI v2 outcome A USCDI v2 Outcome is a USCDI Compliance Outcome that describes whether a digital medicine application adheres to USCDI V2, containing data classes and elements from USCDI v1 and new data classes and elements submitted through the ONDEC system. A USCDI v2 Outcome is a USCDI Compliance Outcome that describes whether a digital medicine application adheres to USCDI V2, containing data classes and elements from USCDI v1 and new data classes and elements submitted through the ONDEC system. patient/family education outcome A Patient/Family Education Outcome is an Education Outcome that is reflected in a patient or family member's understanding of a disease or condition relative to a comparator state of the the patient or family member's understanding. vascular surgery clinical pathology process of care outcome A Process of Care Outcome is a Healthcare Outcome that describes a digital medicine application's ability to impact performance on processes of care. Processes of care are evidence-based actions or interventions performed during the delivery of patient care which reflect a healthcare facility or provider's ability to execute and comply with recommended best patient care practices. A Process of Care Outcome is a Healthcare Outcome that describes a digital medicine application's ability to impact performance on processes of care. Processes of care are evidence-based actions or interventions performed during the delivery of patient care which reflect a healthcare facility or provider's ability to execute and comply with recommended best patient care practices. increased operating room cases per day outcome Increased Operating Room Cases Per Day Outcome is an Operating Room Throughput Outcome measured by the number of cases handled in the operating room per day. thoracic surgery patient activation measure outcome Patient Activation Measure Outcome is a measure based on the wotk by Juddith Hibbard and the formal metric referred to as the Patient Activation Measure (PAM). PAM is a 10 or 13 item survey with a survey score that assesses an individual's knowlegde, skills, and confidence integral to managing one's own health and healthcare. See https://www.insigniahealth.com/products/pam A Patient Activation Measure Outcome is a Engagement and Adherence Outcome based on the wotk by Juddith Hibbard and the formal metric referred to as the Patient Activation Measure (PAM). PAM is a 10 or 13 item survey with a survey score that assesses an individual's knowlegde, skills, and confidence integral to managing one's own health and healthcare. See https://www.insigniahealth.com/products/pam healthcare utilization outcome A Healthcare Utilization Outcome is a Healthcare Outcome that is a reflection of a patient's use of healthcare services. SOC2 certification outcome SOC2 Certification Outcome is a Cybersecurity and Privary Outcome that describes a digital medicine application's compliance with a standard set of assurances about the controls at a service organization relevant to security, availability, and processing integrity of the systems the service organization uses to process users’ data and the confidentiality and privacy of the information processed by these systems. SOC2 Certification Outcome is a Cybersecurity and Privary Outcome that describes a digital medicine application's compliance with a standard set of assurances about the controls at a service organization relevant to security, availability, and processing integrity of the systems the service organization uses to process users’ data and the confidentiality and privacy of the information processed by these systems. optimal medication dosing outcome An Optimal Medication Dosing Outcome is a Health Benefit Outcome that pertains to optimally identifying dosing of a medication based on a variety of input parameters. blood Banking/Transfusion medicine healthcare operation outcome A Healthcare operation Outcome is a Healthcare Outcome that pertains to operations associated with running healthcare facilities. These may include, for example, operational efficiencies, scheduling, throughput, etc. medication adherence outcome A Medication Adherence Outcome is an Treatment Adherence Outcome that reflects an individual's degree of adherence to taking their medications as recommended. Technical Capability Area is a Refining Value describing major technical categories of digital medicine or therapeutic products. technical capability HIPAA compliance outcome A Health Insurance Portability and Accountability Act (HIPAA) Compliance Outcome is a Cybersecurity and Privacy Outcome describing whether a digital medicine application confirm to HIPAA standards. HIPAA, also known as “The Privacy Rule,” set sstandards and regulations to protect patients from inappropriate disclosures of their protected health information (PHI) that could cause harm to their insurability, employability and/or their privacy. HIPAA allows for researchers to access and use PHI when necessary to conduct research. Not all research is subject to HIPAA regulations; HIPAA only affects research that uses, creates or discloses PHI. A Health Insurance Portability and Accountability Act (HIPAA) Compliance Outcome is a Cybersecurity and Privacy Outcome describing whether a digital medicine application confirm to HIPAA standards. HIPAA, also known as “The Privacy Rule,” set sstandards and regulations to protect patients from inappropriate disclosures of their protected health information (PHI) that could cause harm to their insurability, employability and/or their privacy. HIPAA allows for researchers to access and use PHI when necessary to conduct research. Not all research is subject to HIPAA regulations; HIPAA only affects research that uses, creates or discloses PHI. pediatrics Medical Specialty is a Refining Value a defined as a branch of medical practice that is focused on a defined group of patients, diseases, skills, or philosophy. Source: https://en.wikipedia.org/wiki/Medical_specialty medical specialty Phase 3 Trial Evidence is Controlled Trial Evidence that comes from a Phase 3 trial which is usually done after safety in a Phase 1 trial and effectiveness in a Phase 2 trial, in order to determine the safety and effectiveness of an intervention in a larger group than Phase 1 or 2 trials. phase 3 trial evidence occupational medicine registry and quality reporting data transfer outcome A Registry and Quality Reporting Data Transfer Outcome is a Data Transfer Outcome pertaining to transmitting data to/from registries and/or quality reporting databases that may include, for example, increased efficiency or fidelity of transferring the data to/from these entities. pathology FTE reduction outcome A FTE Reduction Outcome is a Healthcare Operation Outcome which achieves efficiencies thereby reducing the number of full time employees needed. Hand/Wrist/Elbow Clinician Role is a Role describing a healthcare provider as a user type of a digital medicine or digital therapeutic application. clinician role physical medicine and rehabilitation pediatric endocrinology decreased operating room cancellations per day outcome Decreased Operating Room Cancellations Per Day Outcome is an Operating Room Outcome that describes a digital medicine application's influence on decreasing operating room cancellations on a per day basis. psychiatry SF-36 profile outcome Short Form-36 Profile Outcome SF-36 Profile Outcome is a Patient Reported Quality of Life Outcome that describes an overall profile on 8 health dimensions: physical functioning, physical role limitations, bodily pain, general health perceptions, energy/vitality, social functioning, emotional role limitations, and mental health. SF-36 Profile Outcome is a Patient Reported Quality of Life Outcome that describes an overall profile on 8 health dimensions: physical functioning, physical role limitations, bodily pain, general health perceptions, energy/vitality, social functioning, emotional role limitations, and mental health. medical oncology pediatric infectious disease hematopathology KOOS outcome Knee injury and Osteoarthritis Outcome Score Outcome KOOS Outcome is a Patient Reported Outcome that describes the Knee Injury and Osteoarthritis Outcome Score (KOOS) that measures a patient's opinion about the health, symptoms, and functionality of their knee. KOOS Outcome is a Patient Reported Outcome that describes the Knee Injury and Osteoarthritis Outcome Score (KOOS) that measures a patient's opinion about the health, symptoms, and functionality of their knee. geriatric medicine pediatric emergency medicine net promoter score outcome A Net Promoter Score® Outcome, or NPS®, is a Satisfaction Outcome which measures customer experience and predicts business growth. This proven metric now provides the core measurement for customer experience management programs. A Net Promoter Score® Outcome, or NPS®, is a Satisfaction Outcome which measures customer experience and predicts business growth. This proven metric now provides the core measurement for customer experience management programs. cardiology preventive medicine FTE reduction pediatric critical care medicine female pelvic medicine and reconstructive surgery system availability outcome A System Availability Outcome is a Technical Outcome which is a maintenance metric used to measure the amount of time—as a percentage—that an asset can be used for production. It calculates the probability that a system won't experience downtime when workers need to use it. A System Availability Outcome is a Technical Outcome which is a maintenance metric used to measure the amount of time—as a percentage—that an asset can be used for production. It calculates the probability that a system won't experience downtime when workers need to use it. transplant surgery Intra-Operative monitoring neurotology prescription fill rate outcome A Prescription Fill Rate Outcome is a Medication Adherence Outcome that reflects the rate at which one or more individuals fill new prescription(s) as recommended. reduced leave without being seen rate outcome Reduced Leave Without Being Seen Rate Outcome is a Reduced Emergency Department Utilization Outcome that describes a digital medicine application's influence on the rate of patients who present to the emergency department but are not seen by a healthcare provider before leaving. Nursing Role is a Clinician Role describing a nurse as a user type of a digital medicine or digital therapeutic application. nurse role bariatrics real world evidence Real world evidence is evidence collected in a non-controlled manner with any/all users who use the product in a natural context. adolescent medicine API access outcome API Access Outcome is an Interoperability Outcome that describes a digital medicine application's ability to access the application programming interface for another application. There are a variety of API-based standards in healthcare. A digitial medicine application's adherence to one or more such standards is an API Access Outcome. API Access Outcome is an Interoperability Outcome that describes a digital medicine application's ability to access the application programming interface for another application. There are a variety of API-based standards in healthcare. A digitial medicine application's adherence to one or more such standards is an API Access Outcome. Male sex is a Sex Assigned at Birth defined as a multidimensional biological construct based on anatomy, physiology, genetics, and hormones (sex traits) consistent with male genitalia and chromosomes. Source: https://orwh.od.nih.gov/sex-gender" male sex USCDI compliance outcome A United States Core Data for Interoperability (USCDI) Compliance Outcome is a Data Standards Outcome which describes whether a digital medicine application adheres to the UCSDI standardized set of health data classes and constituent data elements for nationwide, interoperable health information exchange. A United States Core Data for Interoperability (USCDI) Compliance Outcome is a Data Standards Outcome which describes whether a digital medicine application adheres to the UCSDI standardized set of health data classes and constituent data elements for nationwide, interoperable health information exchange. pediatric Hematology-Oncology issue response time outcome An Issue Response Time Outcome is an Issue Resolution Outcome that describes the amount of time that has elapsed between when an issue is filed, and a non-automated response is generated back to the individual filing the issue. Physician Role is a Clinician Role describing a physician as a user type of a digital medicine or digital therapeutic application. physician role hip Role is a Refining Value that describes the user type of a digital medicine application. role pediatric dermatology Patient Appointment Self-Scheduling Capability is a Patient Appointment Scheduling Capability of a digital medicine or therapeutic application that conducts or assists with patients scheduling their own appointments. patient appointment Self-Scheduling capability satisfaction outcome A Satisfaction Outcome is a User Experience Outcome that describes the degree to which a user's needs, expectations, and preferences are met by a digital medicine application, or more broadly by a product or service. It can be influenced by many factors, such as usability, functionality, design, performance, support, and value. User satisfaction can be measured by various methods, such as surveys, ratings, feedback, reviews, and testimonials. Caregiver Role is a Role describing a caregiver of a patient as a user type of a digital medicine or digital therapeutic application. caregiver role Increased Positive Predictive Value is a measure of Increased Accuracy that is defined as true positives / (true positives + false positives) increased positive predictive value electrophysiology Evidence is a Refining Value that describes the level or class of evidence of a digital medicine application. Classes of evidence may be categorized on a I-IV basis and iformed by different study designs such as randomized controlled trial, or cohort studies, or case series for example. Source: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3838756/ evidence Medical Calculator Capability is a Technical Capability Area defined as a type of medical computer software, whose purpose is to allow easy calculation of various scores and indices, presenting the user with a friendly interface that hides the complexity of the formulas. Source: https://en.wikipedia.org/wiki/Medical_calculator medical calculator capability Phase 2 Trial Evidence is Controlled Trial Evidence that comes from a Phase 2 trial which is usually done after the establishment of safety in a Phase 1 Trial, in order to determine the potential efficacy of an intervention in a relatively small group phase 2 trial evidence reproductive endocrinology and infertility reduced infusion clinic no show rate outcome A Reduced Infusion Clinic No Show Rate Outcome is both a Medication Adherence Outcome (because it reflects an appointment for administering medication), and a Reduced Appointment No Show Rate Outcome (because it is a subclass of Appointment No Show Rate specific to a certain kind of appointment). plastic surgery Clinical Decision Support Capability is a Technical Capability Area describing a digital medicine or therapeutic's capability to provide functionlaity related to clinical decision support, defined as a process for enhancing health-related decisions and actions with pertinent, organized clinical knowledge and patient informartion to improve health and healthcare delivery. Source: https://www.cdc.gov/opioids/healthcare-admins/ehr/clinical-decision-support.html#:~:text=Print-,What%20Is%20Clinical%20Decision%20Support%3F,improve%20health%20and%20healthcare%20delivery. clinical decision support capability HEDIS measure diabetes care outcome HEDIS Measure Diabetes Care Outcome is a HEDIS Measures outcome that describes the HEDIS Measures pertaining to diabetes care, currently referred to as Comprehensive Diabetes Care, and includes hemoglobin A1c testing, monitoring, and control; performance of retinal eye exam; medical attention for nephropathy; and blood pressure control. HEDIS Measure Diabetes Care Outcome is a HEDIS Measures outcome that describes the HEDIS Measures pertaining to diabetes care, currently referred to as Comprehensive Diabetes Care, and includes hemoglobin A1c testing, monitoring, and control; performance of retinal eye exam; medical attention for nephropathy; and blood pressure control. appointment scheduling outcome An Appointment Scheduing Outcome is a Healthcare Access Outcome pertaining to scheduling patient appointments, and may include, for example, increasing efficiency or throughput in appointment scheduling. nuclear medicine uptime outcome Uptime Outcome is a System Availability Outcome that describes the amount of time or the percentage of time that a digital medicine application is operational and available for use. pediatric hospital medicine A Neonatal person is a Person who is of the Neonate Age Group. neonatal person data transfer outcome A Data Transfer Outcome is a Healthcare Operaration Outcome that pertains to transferring data. This may include, for example, increased data transfer rates, lower effort to transfer data, among others. general dermatology operating room outcome Operating Room Outcome is a Healthcare Operation Outcome that describes a digital medicine application's ability to influence a variety of opoerating room outcomes. These may include, for example, operating room throughput, operating room scheduling efficiency, among others. trainee education outcome A Trainee Education Outcome is a Clinician Education Outcome that pertains to a clinical trainee (e.g. medical student, resident). Mid-Level practitioner education outcome A Mid-Level Practitioner Education Outcome is a Clinician Education Outcome that pertains to a mid-level practitioner such as a Physician Assistant or a Nurse Practitioner. pre-procedural stage pediatric urology efficiency operating room throughout outcome Operating Room Throughput Outcome is an Operating Room Outcome that describes a digital medicine application's influence on the throughput of an operating room, in the variety of ways in which it might be measured. dexterity impaired outcome A Dexterity Impaired Outcome is a Universale Design Outcome related to whether a digital medicine application takes dexterity impairment into account in its design. Dexterity impairment refers to any physical disability that limits the physical function of one or more limbs. Mobility/Dexterity impairments can impact the individuals strength, speed, endurance, and coordination. A Dexterity Impaired Outcome is a Universale Design Outcome related to whether a digital medicine application takes dexterity impairment into account in its design. Dexterity impairment refers to any physical disability that limits the physical function of one or more limbs. Mobility/Dexterity impairments can impact the individuals strength, speed, endurance, and coordination. spine increased diagnostic throughput outcome Increased Diagnostic Throughput Outcome is a Healthcare Operation Outcome that describes a greater number of diagnostic tests that can be performed and/or interpreted per unit of person-time. For example, this may be achieved through some degree of automation. pediatric anesthesiology anesthesiology Pre-Operative processes pulmonology risk prediction outcome A Risk Prediction Outcome is a Health Benefit Outcome that describes a probability of condition or disease based on a variety of digital inputs. patient engagement outcome A Patient Engagement Outcome is an Engagement and Adherence Outcome that represents the degree to which a patient is engaged with a given healthcare intervention. increased appointment show rate outcome Increased Appointment Show Rate Outcome is an Appointment Scheduling Outcome that describes a digital medicine application's ability to increase the rate at which patient's appear for scheduled appointments. medical toxicology Pediatric Age Group is an Age Group defined as a person less than 18 years old. pediatric age group technical outcome Technical Outcome is a Product Performance Non-Clinical Outcome that describes the performance of the product from a technical and engineering perspective rather than from a clinical perspective. This may include uptime, the rate of bugs, technical certification status, among others. reduced episode total cost of care outcome Reduced Episode Total Cost of Care Outcome is a Reduced Cost Outcome that describes a digtial medicine application's ability to reduce the total cost of care, including all direct and indirect costs associated with an episode of care. clinician education outcome A Clinician Education Outcome is an Education Outcome that is reflected in a clinician's understanding of a disease or condition relative to a comparator state of the clinician's understanding. HEDIS measures outcome A Healthcare Effectiveness Data and Information Set (HEDIS) Measures Outcome is a Process of Care Gap Closure Outcome which is a tool used by more than 90 percent of U.S. health plans to measure performance on important dimensions of care and service. HEDIS measures address a range of health issues including: asthma medication use; persistence of beta-blocker treatment after a heart attack; controlling high blood pressure; comprehensive diabetes care; breast cancer screening; chlamydia screening; antidepressant medication management; immunization status; and advising smokers to quit. A Healthcare Effectiveness Data and Information Set (HEDIS) Measures Outcome is a Process of Care Gap Closure Outcome which is a tool used by more than 90 percent of U.S. health plans to measure performance on important dimensions of care and service. HEDIS measures address a range of health issues including: asthma medication use; persistence of beta-blocker treatment after a heart attack; controlling high blood pressure; comprehensive diabetes care; breast cancer screening; chlamydia screening; antidepressant medication management; immunization status; and advising smokers to quit. Euro-Qol score outcome A Euro-Qol Score Outcome is a Patient Reported Quality of Life Outcome that is a standardized measure of health-related quality of life developed by the EuroQol Group to provide a simple, generic questionnaire for use in clinical and economic appraisal or population health status surveys. A Euro-Qol Score Outcome is a Patient Reported Quality of Life Outcome that is a standardized measure of health-related quality of life developed by the EuroQol Group to provide a simple, generic questionnaire for use in clinical and economic appraisal or population health status surveys. Increased Macro Recall is a measure of Increased Accuracy and is the arithmetic mean of all the recall values for the different classes. increased macro recall post-procedural stage reduced 30 day all cause hospital readmission rate outcome Reduced 30 Day All Cause Hospital Readmission Rate Outcome is a Reduced Hospital Readmission Rate Outcome that describes a digital medicine application's influence over reducing the rate at which patients are readmitted to the hospital for all causes within 30 days of a prior hospital discharge. It is a commonly used time frame for quality reporting purposes. doctor education outcome A Doctor Education Outcome is a Clinician Education Outcome that pertains to a physician (MD or DO). A Child girl person is a Person who is female and of the Child Age Group. child girl person Physician Assistant Role is a Role describing a physician assistant as a user type of a digital medicine or digital therapeutic application. physician assistant role A Neonate girl person is a Person who is female and of the Neonate Age Group. neonate girl person addiction medicine interventional radiology reduced hospital readmission rate outcome Reduced Hospital Readmission Rate Outcome is a Healthcare Utilization Outcome that describes a digital medicine application's influence on reducing the rate (agnostic of time frame or risk adjustment) at which patients are readmitted to the hospital after a prior discharge. nephrology modified quality adjusted life year outcome A Modified Quality Adjusted Life Year Outcome is a Health Benefit Outcome that describes the number of quality adjusted life years impacted, in whole or in part, by a Digital Medicine Application. star ranking outcome A Star Ranking Outcome is a Satisfaction Outcome that describes a user's perception of the ranking of a digital medicine application, or more broadly of a product or service. A common rating scale uses a star glyph or typographical symbol, for example, with one star (lowest ranking) to 5 starts (highest ranking) prescription refill rate outcome A Prescription Refill Rate Outcome is a Medication Adherence Outcome that reflects the rate at which one or more individuals refill existing prescription(s) as recommended. For example, if a patient has been given a prescription that lasts 30 days as well as 2 refills, what is the rate at which the patient picks up the refills around days 30 and 60? EQ-5D score outcome EuroQol-5 Dimension Score Outcome EQ-5D Score Outcome is a Patient Reported Quality of Life Outcome that is a multi-attribute utility instrument for measuring health-related quality of life in cost-effectiveness analysis that assesses quality of life on 5 dimensions: mobility, self-care, usual activities, pain and discomort, and anxiety and depression. Overall health is also rated on a visual analog scale. EQ-5D Score Outcome is a Patient Reported Quality of Life Outcome that is a multi-attribute utility instrument for measuring health-related quality of life in cost-effectiveness analysis that assesses quality of life on 5 dimensions: mobility, self-care, usual activities, pain and discomort, and anxiety and depression. Overall health is also rated on a visual analog scale. HiTrust certification outcome A HiTrust Certification Outcome is a Cybersecurity and Privacy Outcome which describes whether a digital medicine application has been HiTrust Certified. HiTrust provides the structure, transparency, guidance, and cross-references to authoritative sources that organizations globally need to be certain of their data protection compliance. The initial development of the HiTrust leveraged nationally and internationally accepted security and privacy-related regulations, standards, and frameworks–including ISO, NIST, PCI, HIPAA, and GDPR–to ensure a comprehensive set of security and privacy controls, and continually incorporates additional authoritative sources. HiTrust standardizes these requirements, providing clarity and consistency and reducing the burden of compliance. A HiTrust Certification Outcome is a Cybersecurity and Privacy Outcome which describes whether a digital medicine application has been HiTrust Certified. HiTrust provides the structure, transparency, guidance, and cross-references to authoritative sources that organizations globally need to be certain of their data protection compliance. The initial development of the HiTrust leveraged nationally and internationally accepted security and privacy-related regulations, standards, and frameworks–including ISO, NIST, PCI, HIPAA, and GDPR–to ensure a comprehensive set of security and privacy controls, and continually incorporates additional authoritative sources. HiTrust standardizes these requirements, providing clarity and consistency and reducing the burden of compliance. Female sex is a Sex Assigned at Birth defined as a multidimensional biological construct based on anatomy, physiology, genetics, and hormones (sex traits) consistent with female genitalia and chromosomes. Source: https://orwh.od.nih.gov/sex-gender female sex education outcome An Education Outcome is a measurable Healthcare Outcome that described the impact of a Digital Medicine Application on a user or beneficiary's education relative to a comparator state, about a given medical condition or disease, or the management of that condition or disease. hospice and palliative medicine radiation oncology pediatric cardiology product performance non-clinical outcome A Product Performance Non-Clinical Outcome is a Digital Medicine Application Outcome that describes the performance of the software application rather than the Health Outcome or the User Satisfaction Outcome it influences. These may include, for example, technical performance, uptime, and technical certifications. billing outcome A Billing Outcome is a Healthcare Operation Outcome pertaining to the process of billing and/or reimbursement. This may include, for example, increased efficiency in the billing process, among others. Medication Dosing Capability is a Clinical Decision Support Capability that calculates medication dosing based on a number of parameters such as renal and/or hepatoc function, patient weight, prior medication or therapeutic levels, etc. medication dosing capability reduced costs outcome A Reduced Cost Outcome is a Healthcare Ecoomic Outcome that is a reflection of reduced absolute costs, specified around an episode of care, a timeframe, and/or over a population. A Reduced Cost Outcome is a Healthcare Ecoomic Outcome that is a reflection of reduced absolute costs, specified around an episode of care, a timeframe, and/or over a population. transcription error reduction outcome A Transcription Error Reduction Outcome is an EHR Data Transfer Outcome that describes a digital medicine application's capacity to reduce transrciption errors relative to a comparison technology. child and adolescent psychiatry Increased Specificity is a measure of Increased Accuracy that is defined as True negatives / (True negatives + False positives) increased specificity cost savings educational materials accessed outcome Educational Materials Accessed Outcome is a Patient/Family Education Outcome that reflects educational materials accessed by patients and/or family members about a clinical condition, medication, care plan, procedure preparation, follow up, or other care plan. annual rolling uptime outcome Annual Rolling Uptime Outcome is an Uptime Outcome describing the amount or percent of uptime as measured on a rolling annual basis. refining value A value that can be used to refine the description of a digital medicine application At some point it would be good to locate subclasses of this class in the appropriate BFO hierarchy location computed tomography PHQ-9 outcome Patient Health Questionnaire-9 Score Outcome A Patient Health Questionnaire (PHQ-9) Outcome is a Patient Reported Outcome that is a self-administered version of the PRIME-MD diagnostic instrument for common mental disorders. The PHQ-9 is the depression module, which scores each of the 9 DSM-IV criteria as “0” (not at all) to “3” (nearly every day). A Patient Health Questionnaire (PHQ-9) Outcome is a Patient Reported Outcome that is a self-administered version of the PRIME-MD diagnostic instrument for common mental disorders. The PHQ-9 is the depression module, which scores each of the 9 DSM-IV criteria as “0” (not at all) to “3” (nearly every day). allergy and immunology general ophthalmology digital literacy outcome A Digital Literacy Outcome is a Universal Design Outcome that describes a person's ability to use information and communication technologies to find, evaluate, create, and communicate information, requiring both cognitive and technical skills. A Digital Literacy Outcome is a Universal Design Outcome that describes a person's ability to use information and communication technologies to find, evaluate, create, and communicate information, requiring both cognitive and technical skills. Duration is a Refining Value that describes how long something lasts or how long it is in place. duration pediatric orthopedics integrations outcome Integrations Outcome is a Healthcare Operation Outcome that describes a digital medicine application's influence over integrating various systems, often, but not always associated with integrating with the electronic health record. emergency medicine health benefit outcome A Health Benefit Outcome is a Clinical Care Outcome that pertains to the direct or indirect health benefit for the beneficiary of a digital medicine application. decreased time to diagnosis outcome A Decreased Time to Diagnosis Outcome is a Modified Diagnosis Outcome describing a Digital Medicine Application's capacity to impact the time required to arrive at a diagnosis. Unlike Increased Diagnostic Throughput Outcome whose unit of measure is number of diagnostic tests/person-time, Modified Time to Diagnosis Outcome has a unit of measure that is only time. pediatric pulmonology healthcare outcome A Healthcare Outcome is a measurable Digital Medicine Application Outcome that is atrributable in whole or part to the use by a person (often a patient, clinical provider, or clinical administrator, but not exclusively) of a digital medicine application. It includes, for example, clinical outcomes, healthcare economic outcomes, process of care outcomes, healthcare operation outcomes, and education outcomes. sex assigned at birth Sex Assigned at Birth is a Refining Value defined according to the categories specified by the Office of the National Coordinator for Health Information Technology as specified in the UCSDI standards to describe the sex of an individual as assigned to them on birth. Source: https://www.healthit.gov/isa/uscdi-data/sex-assigned-birth public health and general preventive medicine diabetic retinopathy screening interventional cardiology dermatopathology safety event outcome A Safety Event Outcome is a Clinical Care Outcome that describes the mitigation (or worsening) of a safety event or side effect that a Digital Medicine Application may help mitigate, or that a Digital Medicine Application may cause. Best Practice Alerts (BPA) Capability is a Clinical Decision Support Capability describing a digital medicine or therapeutic's capability to provide functionality related to an alert notification system, wherein alerts are automated alerts embedded in the hospital's electronic medical/health record or computerized provider order entry system. BPA alerts help to facilitate communication of information to healthcare providers and guide clinical practice. Source: https://academic.oup.com/jamiaopen/article/6/3/ooad056/7235064 best practice alerts capability triage outcome Triage Outcome is a Healthcare Utilization Outcome that describes a digital medicine application's influence on patient triage. This could be, for example, a digital medicine applicaiton which interprets patient symptoms are recommends care at home, care by a primary care physician, or care in the emergency department. It could also be for an application that guides an emergency department healthcare provider as to the safest triage location for a patient being assessed in the emergency department. USCDI v3 outcome A USCDI v3 Outcome is a USCDI Compliance Outcome that describes whether a digital medicine application adheres to USCDI V3, which contains data classes and elements from USCDI v2 and new data classes and elements submitted through the ONDEC system. A USCDI v3 Outcome is a USCDI Compliance Outcome that describes whether a digital medicine application adheres to USCDI V3, which contains data classes and elements from USCDI v2 and new data classes and elements submitted through the ONDEC system. podiatry clinical process clinical data transformation Technology is a Refining Value that describes the tecnology or technologies used by a digital medicine or therapeutic application. technology neuroradiology general internal medicine Developmental-Behavioral pediatrics pain medicine universal design outcome A Universal Design Outcome is a Human Factors and Usability Outcome that describes the design and composition of an environment so that it can be accessed, understood and used to the greatest extent possible by all people regardless of their age, size, ability or disability. A Universal Design Outcome is a Human Factors and Usability Outcome that describes the design and composition of an environment so that it can be accessed, understood and used to the greatest extent possible by all people regardless of their age, size, ability or disability. dermatology patient reported outcome A Patient Reported Outcomes (PRO) is a Healthcare Outcome that describes a condition for which there is commonly a measure (Patient Reported Outcome Measure) that is a composite metric for that measure. PROs and their measures, PROMs, describe different aspects of a patient's health status as reported directly from the patient without added interpretation by a healthcare worker or anyone else. A Patient Reported Outcomes (PRO) is a Healthcare Outcome that describes a condition for which there is commonly a measure (Patient Reported Outcome Measure) that is a composite metric for that measure. PROs and their measures, PROMs, describe different aspects of a patient's health status as reported directly from the patient without added interpretation by a healthcare worker or anyone else. modified primary care encounter rate outcome A Modified Primary Care Encounter Rate Outcome is a Modified Ambulatory Care Outcome that is influenced by digital medicine applications that increase appropriate or decrease inappropriate healthcare utilization in primary care. procedural no show rates data standards outcome A Data Standards Outcome is an Interoperability Outcome that describes whether a digital medicine applicaiton adheres to one or more data standards for the collection, exchange, storage, and retrieval of infomration associated with healthcare applications including medical records, medications, radiological images, payment and reimbursement, medical devices and monitoring systerms, and administrative processes. A Data Standards Outcome is an Interoperability Outcome that describes whether a digital medicine applicaiton adheres to one or more data standards for the collection, exchange, storage, and retrieval of infomration associated with healthcare applications including medical records, medications, radiological images, payment and reimbursement, medical devices and monitoring systerms, and administrative processes. An Adolescent male person is a Person who is of the Adolescent Age Group and of the male gender. adult male person Neonatal-Perinatal medicine gynecologic oncology cybersecurity and privacy outcome Cybersecurity and Privacy Outcome is a Product Performance Non-Clinical Outcome describing whether a digital medicine application has met certain standards of privacy and cybersecurity. clinical care outcome A Clinical Care Outcome is a Healthcare Outcome that pertains to a change in a disease state or a condition of a patient. issue resolution time outcome Issue Resolution Time Outcome is an Issue Resolution Outcome that describes the amount of time that has elapsed between when an issue is filed, and when the issue is considered resolved. This is analogous to ticket duration. reduced hospital total costs outcome Reduced Hospital Total Costs Outcome is a Reduced Cost Outcome that describes a digital medicine application's ability to reduce the total cost of care, including all direct and indirect costs associated with an period of coverage. neonate age group Neonate Age Group is a Pediatric Age Group defined by the NIH as those individuals from birth to 1 month old. https://www.nih.gov/nih-style-guide/age otolaryngology A male person is a Person who is male. male person Flesch-Kincaid reading level outcome A Flesch-Kincaid Reading Level Outcome is a Digital Literacy Outcome that describes written text based on a U.S. grade school educational level. The formula uses the average number of words per sentence and the average number of syllables per word to generate a result. A grade level score of 8.0 means that an eighth grader can understand the text. A Flesch-Kincaid Reading Level Outcome is a Digital Literacy Outcome that describes written text based on a U.S. grade school educational level. The formula uses the average number of words per sentence and the average number of syllables per word to generate a result. A grade level score of 8.0 means that an eighth grader can understand the text. USCDI-V1 releases/2023-03-01 true realized_in realized in term replaced by has_characteristic has characteristic in_taxon in taxon transmitted_by transmitted by has_material_basis_in_germline_mutation_in has material basis in germline mutation in disease_has_basis_in_dysfunction_of disease has basis in dysfunction of disease_arises_from_feature disease arises from feature disease_causes_dysfunction_of disease causes dysfunction of disease_has_location disease has location disease_has_inflammation_site disease has inflammation site realized_in_response_to_stimulus realized in response to stimulus disease_has_feature disease has feature disease_arises_from_structure disease arises from structure realized_in_response_to realized in response to disease causes feature disease has basis in accumulation of disease_has_basis_in_development_of disease has major feature disease responds to disease shares features of disease triggers true excluded subClassOf http://orcid.org/0000-0001-5208-3432 true has exclusion reason has onset has_onset_before has_onset_during_or_after true may_be_merged_into part of progression of disease predisposes towards The Digital medicine Outcomes Value Set (DOVeS) ontology aims to provide users with a set of ontologically structured healthcare outcomes (clinical, operational, economic, technical, and others) tailored to digital medicine and digital therapeutic applications. Digital medicine Outcomes Value Set (DOVeS) Ontology has_alternative_id has_obo_format_version has_synonym_type in_subset true true object_label object_label